Paget’s disease Health Dictionary

A failure of the adaptive mechanisms of an organism to counteract adequately, normally or appropriately to stimuli and stresses to which the organism is subjected, resulting in a disturbance in the function or structure of some part of the organism. This definition emphasizes that disease is multifactorial and may be prevented or treated by changing any or a combination of the factors. Disease is a very elusive and difficult concept to define, being largely socially defined. Thus, criminality and drug dependence are presently seen by some as diseases, when they were previously considered to be moral or legal problems.... disease

A zoonotic disease caused by the spirochaete Borrelia burgdorferi and other species of the genus. Common in Europe and the USA and transmi tted by Ixodid ticks.... lyme disease

Around one in 100 people suffers from coeliac disease, a condition in which the small INTESTINE fails to digest and absorb food, but many have no or few symptoms and remain undiagnosed. The intestinal lining is permanently sensitive to the protein gliadin (an insoluble and potentially toxic PEPTIDE protein) which is contained in GLUTEN, a constituent of the germ of wheat, barley and rye. As bread or other grain-based foods are a regular part of most people’s diet, the constant presence of gluten in the intestine of sufferers of coeliac disease causes atrophy of the digestive and absorptive cells of the intestine. Children are usually diagnosed when they develop symptoms such as vomiting, diarrhoea, lethargy, ANAEMIA, swollen abdomen and pale, frothy, foul-smelling faeces with failure to thrive. The diagnosis is usually made by a positive blood antibody test such as antiendomysial antibodies. However, because there may be an occasional false positive result, the ‘gold standard’ is to obtain a biopsy of the JEJUNUM through a tiny metal capsule that can be swallowed, a specimen taken, and the capsule retrieved. Though coeliac disease was long thought to occur in childhood, a second peak of the disorder has recently been identi?ed among people in their 50s.

Not all sufferers from coeliac disease present with gastrointestinal symptoms: doctors, using screening techniques, have increasingly identi?ed large numbers of such people. This is important because researchers have recently discovered that untreated overt and silent coeliac disease increases the risk of sufferers developing osteoporosis (brittle bone disease – see BONE, DISORDERS OF) and cancer. The osteoporosis develops because the bowel fails to absorb the CALCIUM essential for normal bone growth. Because those with coeliac disease lack the enzyme LACTASE, which is essential for digesting milk, they avoid milk – a rich source of calcium.

The key treatment is a strict, lifelong diet free of gluten. As well as returning the bowel lining to normal, this diet results in a return to normal bone density. People with coeliac disease, or parents or guardians of affected children, can obtain help and guidance from the Coeliac Society of the United Kingdom. (See also MALABSORPTION SYNDROME; SPRUE.)... coeliac disease

An illness due to a specific infectious agent or its toxic products which arises through transmission of that agent or its products from a reservoir to a susceptible host - either directly, through the agencyof an intermediate plant or animal host, vector, or the inanimate environment.... communicable disease

A serious African viral haemorrhagic fever harboured by monkeys. Named after the city of Marburg in Germany where a serious outbreak occurred amongst laboratory workers handling the tissues of African Green (Vervet) monkeys.... marburg disease

Bornholm disease, also known as devil’s grip, and epidemic myalgia, is an acute infective disease due to COXSACKIE VIRUSES. It is characterised by the abrupt onset of pain around the lower margin of the ribs, headache, and fever; it occurs in epidemics, usually during warm weather, and is more common in young people than in old. The illness usually lasts seven to ten days. It is practically never fatal. The disease is named after the island of Bornholm in the Baltic, where several epidemics have been described.... bornholm disease

Brittle Bone Disease is another name for OSTEOGENESIS IMPERFECTA.... brittle bone disease

See COMPRESSED AIR ILLNESS.... caisson disease

A zoonotic protozoan disease endemic to parts of Latin America and caused by Trypanosmoma cruzi with reduviid (Triatomid or assassin) bugs as the vectors.... chagas’ disease

A hereditary disorder of blood coagulation which can only be distinguished from HAEMOPHILIA by laboratory tests. It is so-called after the surname of the ?rst case reported in this country. About one in every ten patients clinically diagnosed as haemophiliac has in fact Christmas disease. It is due to lack in the blood of Factor IX (see COAGULATION).... christmas disease

A group of diseases affecting CONNECTIVE TISSUE. The term is really outdated since there is no evidence that collagen is primarily involved. Fibrinoid NECROSIS and VASCULITIS are two ‘characteristics’, and autoimmunity reaction may occur in the connective tissue. The latter affects blood vessels and causes secondary damage in the connective tissue. Such conditions are sometimes described as collagen vascular diseases, examples being RHEUMATOID ARTHRITIS, SYSTEMIC LUPUS ERYTHEMATOSUS (SLE), and SCLERODERMA.... collagen diseases

The presence of numerous diverticula (sacs or pouches) in the lining of the COLON accompanied by spasmodic lower abdominal pain and erratic bowel movements. The sacs may become in?amed causing pain (see DIVERTICULITIS).... diverticular disease

A potentially serious disease of the newborn, characterised by haemolytic ANAEMIA (excessive destruction of red blood cells) and JAUNDICE. If severe, it may be obvious before birth because the baby becomes very oedematous (see OEDEMA) and develops heart failure – so-called hydrops fetalis. It may ?rst present on the ?rst day of life as jaundice and anaemia. The disease is due to blood-group incompatibility between the mother and baby, the commoneset being rhesus incompatibility (see BLOOD GROUPS). In this condition a rhesus-negative mother has been previously sensitised to produce rhesus antibodies, either by the delivery of a rhesus-positive baby, a miscarriage or a mismatched blood transfusion. These antibodies cross over into the fetal circulation and attack red blood cells which cause HAEMOLYSIS.

Treatment In severely affected fetuses, a fetal blood transfusion may be required and/or the baby may be delivered early for further treatment. Mild cases may need observation only, or the reduction of jaundice by phototherapy alone (treatment with light, involving the use of sunlight, non-visible ULTRAVIOLET light, visible blue light, or LASER).

Whatever the case, the infant’s serum BILIRUBIN – the bilirubin present in the blood – and its HAEMOGLOBIN concentration are plotted regularly so that treatment can be given before levels likely to cause brain damage occur. Safe bilirubin concentrations depend on the maturity and age of the baby, so reference charts are used.

High bilirubin concentrations may be treated with phototherapy; extra ?uid is given to prevent dehydration and to improve bilirubin excretion by shortening the gut transit time. Severe jaundice and anaemia may require exchange TRANSFUSION by removing the baby’s blood (usually 10 millilitres at a time) and replacing it with rhesus-negative fresh bank blood. Haemolytic disease of the newborn secondary to rhesus incompatibility has become less common since the introduction of anti-D (Rho) immunoglobulin. This antibody should be given to all rhesus-negative women at any risk of a fetomaternal transfusion, to prevent them from mounting an antibody response. Anti-D is given routinely to rhesus-negative mothers after the birth of a rhesus-positive baby, but doctors should also give it after threatened abortions, antepartum haemorrhages, miscarriages, and terminations of pregnancy.

Occasionally haemolytic disease is caused by ABO incompatibility or that of rarer blood groups.... haemolytic disease of the newborn

A contagious disease due to infection with coxsackie A16 virus (see COXSACKIE VIRUSES). Most common in children, the incubation period is 3–5 days. It is characterised by an eruption of blisters on the palms and the feet (often the toes), and in the mouth. The disease

has no connection with foot and mouth disease in cattle, deer, pigs and sheep.... hand, foot and mouth disease

A disease of humans or animals resulting from an infection.... infectious disease

Infection by the Gram negative rod, Legionella pneumophila and other species of the Genus. Often presents as an atypical pneumonia. Outbreaks have been reported from various countries.... legionnaire’s disease

Also called mucocutaneous lymph node syndrome, this disorder of unknown origin occurs mainly in children under ?ve and was ?rst described in Japan. It is characterised by high fever, conjunctivitis (see under EYE, DISORDERS OF), skin rashes and swelling of the neck glands. After about two weeks the skin from ?ngertips and toes may peel. The disease may last for several weeks before spontaneously resolving. It is possible that it is caused by an unusual immune response to INFECTION (see IMMUNITY).

Arteritis is a common complication and can result in the development of coronary artery aneurysms (see ANEURYSM) in up to 60 per cent of those affected. These aneurysms and even myocardial infarction (see HEART, DISEASES OF – Coronary thrombosis) are often detected after the second week of illness. The disease can be hard to diagnose as it mimics many childhood viral illnesses, especially in its early stages. The incidence in the UK is over 3 per 100,000 children under ?ve years of age.

Treatment Because of the danger of coronary artery disease, prompt treatment is important. This is with intravenous IMMUNOGLOBULINS and low-dose aspirin. To be e?ective, treatment must start in the ?rst week or so of the illness – a time when it is most di?cult to diagnose.... kawasaki disease

(PID) Also called salpingitis, the term is applied to infections of the fallopian tubes that follow or are concurrent with uterine and cervical infections. Gonorrhea and Chlamydia are the most common organisms, and the infection is usually begun through sexual contact, although metabolic imbalances, subtler systemic infections like a slow virus, the local insult of herpes or candidiasis, the sequela of medication or recreational drugs, birth control pills, even an IUD...all can alter the vaginal flora and induce inflammation sufficient to allow an endogenous organism to start the infection. PID after birth, on the other hand, is usually the result of staph or strep infections infecting injured membranes.... pelvic inflammatory disease

A disease causing failure of adrenal gland function, in particular deficiency of adrenal cortical hormones, mainly cortisol and aldosterone. Commonest causes are tuberculosis and auto- immune disease.

Symptoms: (acute) abdominal pain, muscle weakness, vomiting, low blood pressure due to dehydration, tiredness, mental confusion, loss of weight and appetite. Vomiting, dizzy spells. Increased dark pigmentation around genitals, nipples, palms and inside mouth. Persistent low blood pressure with occasional low blood sugar. Crisis is treated by increased salt intake. Research project revealed a craving for liquorice sweets in twenty five per cent of patients.

Herbs with an affinity for the adrenal glands: Parsley, Sarsaparilla, Wild Yam, Borage, Liquorice, Ginseng, Chaparral. Where steroid therapy is unavoidable, supplementation with Liquorice and Ginseng is believed to sustain function of the glands. Ginseng is supportive when glands are exhausted by prolonged stress. BHP (1983) recommends: Liquorice, Dandelion leaf.

Alternatives. Teas. Gotu Kola, Parsley, Liquorice root, Borage, Ginseng, Balm.

Tea formula. Combine equal parts: Balm and Gotu Kola. Preparation of teas and tea mixture: 1 heaped teaspoon to each cup boiling water: infuse 5-10 minutes; 1 cup 2 to 3 times daily.

Tablets/capsules. Ginseng, Seaweed and Sarsaparilla, Wild Yam, Liquorice. Dosage as on bottle. Formula. Combine: Gotu Kola 3; Sarsaparilla 2; Ginseng 1; Liquorice quarter. Doses. Powders: 500mg (two 00 capsules or one-third teaspoon). Liquid extracts: 30-60 drops. Tinctures: 1-2 teaspoons 2 to 3 times daily.

Formula. Alternative. Tinctures 1:5. Echinacea 20ml; Yellow Dock 10ml; Barberry 10ml; Sarsaparilla 10ml; Liquorice (liquid extract) 5ml. Dose: 1-2 teaspoons thrice daily.

Supplementation. Cod liver oil. Extra salt. B-Vitamins. Folic acid. ... addison’s disease

A progressive brain deterioration first described by the German Neurologist, Alois Alzheimer in 1906. Dementia. Not an inevitable consequence of ageing. A disease in which cells of the brain undergo change, the outer layer (cerebral cortex) leading to tangles of nerve fibres due to reduced oxygen and blood supply to the brain.

The patient lives in an unreal world in which relatives have no sense of belonging. A loving gentle wife they once knew is no longer aware of their presence. Simple tasks, such as switching on an electrical appliance are fudged. There is distressing memory loss, inability to think and learn, speech disturbance – death of the mind. Damage by free radicals implicated.

Symptoms: Confusion, restlessness, tremor. Finally: loss of control of body functions and bone loss.

A striking similarity exists between the disease and aluminium toxicity. Aluminium causes the brain to become more permeable to that metal and other nerve-toxins. (Tulane University School of Medicine, New Orleans). High levels of aluminium are found concentrated in the neurofibrillary tangles of the brain in Alzheimer’s disease. Entry into the body is by processed foods, cookware, (pots and pans) and drugs (antacids).

“Reduction of aluminium levels from dietary and medicinal sources has led to a decline in the incidence of dementia.” (The Lancet, Nov 26, 1983).

“Those who smoke more than one packet of cigarettes a day are 4.5 times more likely to develop Alzheimer’s disease than non-smokers.” (Stuart Shalat, epidemiologist, Harvard University).

Researchers from the University of Washington, Seattle, USA, claim to have found a link between the disease and head injuries with damage to the blood/brain barrier.

Also said to be associated with Down’s syndrome, thyroid disease and immune dysfunction. Other contributory factors are believed to be exposure to mercury from dental amalgam fillings. Animal studies show Ginkgo to increase local blood flow of the brain and to improve peripheral circulation. Alternatives. Teas: Alfalfa, Agrimony, Lemon Balm, Basil, Chaparral, Ginkgo, Chamomile, Coriander (crushed seeds), Ginseng, Holy Thistle, Gotu Kola, Horsetail, Rosemary, Liquorice root (shredded), Red Clover flowers, Skullcap, Ladies Slipper.

Tea. Formula. Combine, equal parts: German Chamomile, Ginkgo, Lemon Balm. 1 heaped teaspoon to cup boiling water; infuse 5-15 minutes. 1 cup freely.

Decoction. Equal parts: Black Cohosh, Blue Flag root, Hawthorn berries. 1 teaspoon in each cupful water; bring to boil and simmer 20 minutes. Dose: half-1 cup thrice daily.

Powders. Formula. Hawthorn 1; Ginkgo 1; Ginger half; Fringe Tree half. Add pinch Cayenne pepper. 500mg (two 00 capsules or one-third teaspoon) thrice daily.

Liquid extracts. Formula. Hawthorn 1; Ephedra half; Ginkgo 1. Dose: 30-60 drops, thrice daily, before meals.

Topical. Paint forehead and nape of neck with Tincture Arnica.

Diet: 2 day fluid-only fast once monthly for 6 months. Low fat, high fibre, lecithin. Lacto-vegetarian. Low salt.

Supplements. Vitamin B-complex, B6, B12, Folic acid, A, C, E, Zinc. Research has shown that elderly patients at high risk of developing dementia have lower levels of Vitamins A, E and the carotenes. Zinc and Vitamin B12 are both vital cofactors for brain enzymes.

Alzheimer’s Disease linked with zinc. Zinc is believed to halt cerebral damage. Senile plaques in the brain produce amyloid, damaging the blood-brain barrier. Toxic metals then cross into the brain, displacing zinc. This then produces abnormal tissue. (Alzheimer Disease and Associated Disorders, researchers, University of Geneva).

Japanese study. Combination of coenzyme Q10, Vitamin B6 and iron. Showed improved mental function. Abram Hoffer MD, PhD. Niacin 500mg tid, Vitamin C 500mg tid, Folic acid 5mg daily, Aspirin 300mg daily, Ginkgo herb 40mg daily. (International Journal of Alternative and Complementary Medicine, Feb 1994 p11)

Alzheimer’s Disease Society. 2nd Floor, Gordon House, 10 Greencoat Place, London SW1P 1PH, UK. Offers support to families and carers through membership. Practical help and information. Send SAE. ... alzheimer’s disease

Chronic inflammation and ulceration of the gut, especially the terminal ileum from changes in the gut blood vessels. Commences with ulceration which deepens, becomes fibrotic and leads to stricture. Defective immune system. Resistance low. May be associated with eye conditions and Vitamin B12 deficiency.

Symptoms: malaise, bloody alternating diarrhoea and constipation; right side colicky abdominal pain worse after meals; flatulence, loss of weight and appetite. Intestinal obstruction can usually be palpated. Blood count. A blood count high in whites indicates an abscess – a serious condition which may require surgical repair during which segments of the gut may have to be removed. Malignant change rare. Differential diagnosis. Ulcerative colitis, appendicitis, appendix abscess, irritable bowel syndrome.

Cracks or ulcers at corners of the mouth may be a good marker of Crohn’s Disease.

Treatment. Select one of the following. Herbal treatment offers a safe alternative to steroids by inducing remission in acute exacerbation. Good responses have been observed from the anti-bacterials Wild Yam and Goldenseal. Fenugreek seeds are of special value. Comfrey (tissue regeneration). Irish Moss.

Teas: Chamomile, Comfrey leaves, Hops, Marshmallow leaves, Meadowsweet, Shepherd’s Purse (Dr A. Vogel), Lobelia. Silverweed and Cranesbill are excellent for internal bleeding; Poke root for intestinal ulceration.

Decoction. Fenugreek seeds: 2 teaspoons to large cup water simmered gently 10 minutes. 1 cup freely. The seeds also should be consumed.

Tablets/capsules. Wild Yam, Fenugreek, Ginger, Goldenseal, Lobelia, Slippery Elm.

Powders. Formula. Wild Yam 2; Meadowsweet 2; Goldenseal 1. Dose: 500mg (two 00 capsules or one- third teaspoon) thrice daily.

Liquid Extracts. (1) Formula. Wild Yam 1, Echinacea 2. 30-60 drops in water thrice daily. Or, (2) Formula: Turkey Rhubarb 2, Goldenseal 1, Caraway half. 20-30 drops in water thrice daily.

Tinctures. Formula. Bayberry 2, Goldenseal 1, Cardamoms 1. Dose: One to two 5ml teaspoons thrice daily.

Ispaghula seeds. 2-4 teaspoons thrice daily.

Tea Tree oil Suppositories. Insertion at night.

Diet. Bland, little fibre, Slippery Elm gruel. Irish Moss preparations. Increase fluid intake. Reject: broccoli, tomatoes, lima, Soya, Brussels sprouts, pinto beans, cocoa, chocolate, cow’s milk, peas, onions, turnips, radishes. Accept fish oils.

Addenbrookes Hospital, Cambridge. Reject foods containing wheat and all dairy produce.

Supplements. Vitamins A, B12, C, Calcium, Iron, Magnesium, Potassium, Zinc.

Study. In a study carried out by UK researchers (1993) food allergies were found to be the most common cause of the disease. Results suggested that dietary changes may be as effective as corticosteroids in easing symptoms. The most common allergens were corn, wheat, milk, yeast, egg, potato, rye, tea, coffee, apples, mushrooms, oats, chocolate. An elemental diet with a formula of nutrients (E028, produced by Hospital Supplies, Liverpool) was used in trials. (The Lancet, 6.11.1993)

Notes. Crohn’s Disease is associated with Erythema nodosum, more frequently recognised in childhood. A frequent cause is cow’s milk intolerance. Smoking adds to the risk of Crohn’s disease.

In susceptible people, the food additives titanium dioxide and aluminosilicates may evoke a latent inflammatory response resulting in Crohn’s disease, ulcerative colitis or bowel cancer. These chemicals may be found in the intestinal lymphoid aggregations in gut mucosa. (Jonathan Powell, Gastro-intestinal Laboratory, St Thomas’s Hospital, London) (Titanium dioxide rarely occurs naturally but is added to confectionery, drinking water and anti-caking agents.) ... crohn’s disease

Leprosy. Progressive infection by Mycobacterium leprae. Two forms: (1) tuberculoid; infection of the nerve endings and membranes of the nose, with loss of feeling and pale patches on the body. (2) Lepromatous; with inflamed thickened painful red skin exacerbated by ulceration, fever, neuritis and orchitis. Distorted lips and loss of nasal bone as infection progresses.

Symptoms: numbness, nerves may swell like iron rods. Infected nerves kill all sensation. In endemic areas, pins and needles in hands may call attention to it. A disease of nerves rather than skin. NOTIFIABLE DISEASE.

Many laymen and practitioners will never have seen a case. In the absence of modern medicine some good can be achieved by traditional remedies. Ancient Hindu and Chinese records refer to the use of Gotu Kola (internally and externally). Dr C.D. de Granpre? (1888) refers. (Martindale 27; p.441)

Oil of Chaulmoogra was used up to one hundred years ago before introduction of modern drugs. It fell into dis-use until discovered by a Director of Health in the Philippine Islands during World War I when he used it successfully in combination with camphor. In South America, where the disease is still active, Sarsaparilla has a long traditional reputation. Walnut oil is used as a dressing, in China. An anti- staphylococcal fraction has been isolated from the seeds of Psoralea corylifolia for use in leprosy. (Indian Journal of Pharmacy 26: 141, 1964)

Tea. Gotu Kola. Half a teaspoon to each cup boiling water; infuse 15 minutes. Drink freely. Stronger infusions may be used externally to cleanse ulceration.

Decoction. Combine: Sarsaparilla 1; Gotu Kola 1; Echinacea 2. Half an ounce to 1 pint water gently simmered 20 minutes. Dose: Half a cup 3 times daily.

Formula. Echinacea 2; Sarsaparilla 1; Gotu Kola 2. Dose. Powders 500mg. Liquid Extracts 3-5ml. Tinctures 5-10ml. Thrice daily.

Note: Antibody-positive cases of AIDS are vulnerable to leprosy, both diseases being caused by a similar bacterium.

To be treated by infectious diseases specialist. ... hansen’s disease

(Lymphadenoma. Lymphogranulomatosis). Chronic enlargement of the lymph nodes often together with that of the liver, spleen and bone marrow. Affects more males than females, 30- 40 years. High white blood cell count. Cancer of the lymph vessels. Follows a typical clinical course with anaemia until necrosis supervenes. The disease is suspected by a combination of enlargement of lymph nodes (especially the neck), severe itching and unexplained fever. Symptoms vary according to part of the body affected.

Symptoms. Hard rubbery glands are general, chiefly detected under the arm and groin. Enlarged nodes may compress nearby structures to produce nerve pains. Weight loss. Accumulation of fluid in lungs and abdomen. Obstruction of bile duct leads to jaundice. Patient may be prone to shingles. High fever heralds approaching fatality. Blood count, bone marrow aspiration and node biopsy confirm. Tubercula glands may simulate Hodgkin’s disease.

Some success reported by the use of the Periwinkle plant. (vinca rosea – Vinchristine) Wm Boericke, M.D. refers to Figwort as a powerful agent in Hodgkin’s disease.

Alternatives. Although there is no known cure, emphasis on the cortex of the adrenal gland may reduce skin irritation and pain in the later stages (Gotu Kola, Liquorice, Sarsaparilla). To arrest wasting and constitutional weakness: Echinacea. Anti-pruritics, alteratives and lymphatics are indicated.

Tea. Formula. Equal parts, Nettles, Gotu Kola, Red Clover. 1 heaped teaspoon to each cup boiling water; infuse 15 minutes. 1 cup 3 or more times daily.

Decoction. Formula. Equal parts – Yellow Dock, Queen’s Delight, Echinacea. 1 teaspoon to each cup water gently simmered 20 minutes. Half-1 cup 3 or more times daily.

Tablets/capsules. Poke root. Blue Flag root. Echinacea. Mistletoe.

Powders. Formula. Echinacea 2; Poke root 1; Bladderwrack 1. Dose: 500mg (two 00 capsules or one- third teaspoon) 3 or more times daily.

Tinctures. Mixture. Parts: Echinacea 2; Goldenseal quarter; Thuja quarter; Poke root half; Periwinkle 1. Dose: 1-2 teaspoons, 3 or more times daily. Where active inflammation is present – add Wild Yam 1. External. Castor oil packs to abdomen.

Treatment by a general medical practitioner or hospital specialist.

HOLISTIC MEDICINE. A school of thought which regards disease as a manifestation of an inner disturbance of the vital force, and not merely abnormality of certain groups of nerves, muscles, veins, or even the mind itself. Article 43 of Dr Samuel Hahnemann’s Organon of the Healing Art describes it:

“No organ, no tissue, no cell, no molecule is independent of the activities of the others but the life of each one of these elements is merged into the life of the whole. The unit of human life cannot be the organ, the tissue, the cell, the molecule, the atom, but the whole organism, the whole man.”

Holistic medicine relates disease to a patient’s personality, posture, diet, emotional life, and lifestyle. Treatment will be related to body, mind and spirit. It encourages a positive psychological response to the disease from which a patient suffers. For instance, its gentle approach to cancer embraces stress control, meditation, forms of visualisation and other life-enhancing skills.

Diet may be vegetarian, even vegan.... hodgkin’s disease

An infection caused by a tapeworm Echinococcus granulosis, which infests cattle, foxes, sheep and especially dogs from which it finds its way into humans by contaminated food. Eggs pass through the wall of the gut to develop in body tissue as a hydatid cyst. Many years may pass before symptoms reveal its presence. Surgical operation is the only effective cure although certain vermifuges, taken from time to time, create in the intestine an inhospitable environment for the parasite: Wormwood, Malefern, Fennel, Pumpkin seeds; given in capsule or powder form. Such worms deplete reserves of Vitamin B12 and may cause megaloblastic anaemia.

Supplementation. Vitamin B12.

HYDRAGOGUE. A herbal cathartic that causes watery evacuation and drastic purgation. White Bryony, American Mandrake. (Practitioner use only) ... hydatid disease

Inner ear disorder. Constriction of cerebral blood vessels (vasospasm) increases pressure of fluids in the balancing mechanism. Ages 40-60; more in men.

Etiology. Obscure; though cases may be traced to auto-toxaemia, Vitamin B deficiency, menstruation, malaria drugs (chloroquine).

Symptoms: dizziness, nausea, vomiting, tinnitus, sound distortions, heavy sweating, loss of hearing; usually in one ear only. Early diagnosis essential for effective treatment. This may mean reference to a department of otolaryngology or otoneurology.

Treatment. Antispasmodics. Nervines. Sometimes a timely diuretic reduces severity – Uva Ursi, Dandelion root, Wild Carrot.

Alternatives. Current European practice: Betony, German Chamomile, Passion flower, Hawthorn, Hops, Feverfew, White Willow.

Tea. Combine, equal parts: Valerian, Wild Carrot, Agrimony. 2 teaspoons to each cup boiling water; infuse 15 minutes. Half-1 cup every 2 hours during attack; thrice daily thereafter.

Decoction. Mistletoe: 2 teaspoons to each cup cold water steeped overnight. Bring to boil. Allow to cool. Half-1 cup, as above.

Tablets/capsules. Feverfew, Mistletoe, Prickly Ash.

Formula. Ginkgo 2; Dandelion 1; Black Cohosh 1. Dose: Liquid Extracts: 1 teaspoon. Tinctures: 2 teaspoons. Powders: 500mg (two 00 capsules or one-third teaspoon). Thrice daily.

Feverfew tincture. See: FEVERFEW.

Dr J. Christopher: inject into ears, at night, few drops oil of Garlic (or contents of Garlic capsule).

Cider vinegar. 2 teaspoons to glass water: as desired.

Aromatherapy. Inhalants: Eucalyptus or Rosemary oils.

Diet: gluten-free, low salt; good responses observed. High fibre. Avoid dairy products and chocolate. Vitamins: B-complex, B1; B2; B6; E; F. Brewer’s yeast, Niacin.

Minerals: Calcium. Magnesium. Phosphorus. Dolomite. ... meniere’s disease

Also called regional enteritis or regional ileitis, this is a nonspecific inflammatory disease of the upper and lower intestine that forms granulated lesions. It is usually a chronic condition, with acute episodes of diarrhea, abdominal pain, loss of appetite, and loss of weight. It may affect the stomach or colon, but the most common sites are the duodenum and the lowest part of the small intestine, the lower ileum. The standard treatment is, initially, anti-inflammatory drugs, with surgical resectioning often necessary. The disease is autoimmune, and sufferers share the same tissue type (HLA-B27) as those who acquire ankylosing spondylitis.... crohn’s disease

See CYSTIC FIBROSIS.... fibrocystic disease of the pancreas

See THYROID GLAND, DISEASES OF.... graves’ disease

A form of ACUTE RESPIRATORY DISTRESS SYNDROME (ARDS) found in premature infants and some of those born by CAESAREAN SECTION, characterised by the onset of di?culty in breathing a few hours after birth. Most require extra oxygen and many need mechanical ventilation for a few days or even weeks. Recovery is the rule, although the most severely affected may die or suffer damage from oxygen lack. In this condition the ALVEOLITIS and the ?ner BRONCHIOLES of the lungs are lined with a dense membrane. The cause of the condition is a de?ciency of SURFACTANT in the lung passages which adversely affects gas exchanges in the alveoli.

Treatment includes the full gamut of neonatal intensive care, as well as speci?c therapy with PULMONARY SURFACTANT.... hyaline membrane disease

Disease induced by a physician: most commonly a drug-induced disease.... iatrogenic disease

An infectious or other disease required to be notified to the relevant State Government Authorityfor entry onto the Notifiable Diseases Register.... notifiable disease

A disease that started as, or became, impairment of structure or tissue. The smoker may have coughing and shortness of breath for years, and suffer from functional disorders; when the smoker gets emphysema, it is an organic disease.... organic disease

See PSITTACOSIS.... parrot disease

A collection of industrial diseases which provide those with a disease legal entitlement to welfare bene?ts. Examples are DEAFNESS from excessive noise in the workplace; ANTHRAX from farming; PNEUMOCONIOSIS from industrially generated dust (coal mining); and LEAD POISONING from the handling of chemicals. (See also OCCUPATIONAL HEALTH, MEDICINE AND DISEASES.)... prescribed diseases

A rare condition in which wasting of the skin and the bones, IMPOTENCE, and loss of hair (ALOPECIA) occur as a result of destruction of the PITUITARY GLAND.... simmonds’ disease

An inherited recessive condition in which there is abnormal accumulation of lipids (see LIPID) in the BRAIN. The result is blindness, mental retardation and death in early childhood. The disease can usually be prevented by genetic counselling in those communities in which the disease is known to occur.... tay sachs disease

See SEXUALLY TRANSMITTED DISEASES (STDS).... venereal diseases

Epidemic jaundice. A severe form of leptospirosis caused by such serovars as Leptospira icterrohaemorrhagiae.... weil’s disease

A group of disorders of unknown origin. Certain cells in the neurological system’s MOTOR nerves degenerate and die. Upper and lower motor neurones may be affected but sensory cells retain their normal functions. Three types of MND are identi?ed: amyotrophic lateral sclerosis (AML – 50 per cent of patients); progressive muscular atrophy (25 per cent), in which the prognosis is better than for AML; and bulbar palsy (25 per cent). Men are affected more than women, and the disorder affects about seven people in every 100,000. Those affected develop progressive weakness and wasting of their muscles. The diagnosis is con?rmed with various tests including the measurement of electrical activity in muscles, electromyography, muscle BIOPSY, blood tests and X-ray examination of the spine. There is no medical treatment: patients need physical and psychological support with aids to help them overcome disabilities. The Motor Neurone Disease Association provides excellent advice and help for sufferers and their relatives. (See APPENDIX 2: ADDRESSES: SOURCES OF INFORMATION, ADVICE, SUPPORT AND SELF-HELP.)... motor neurone disease (mnd)

See: REFLUX. ... gastro-oesophageal reflux disease

Degenerative changes in the growth centres of bones in children due to calcium or other mineral deficiency. Herbs rich in calcium, iron, and magnesium are indicated. (Horsetail, Chamomile, Plantain, Silverweed, Nettles, Mullein, etc)

Selenium 50mcg and Vitamin E 400iu are recommended by Jonathan Wright MD, for decreasing the pain of disease, decreasing over 3 months. (Health Update USA, June 1990) ... osgood schlatter disease

A rare skin disorder that sometimes becomes cancerous. A flat, regular-shaped, patch of red, scaly skin forms, most commonly on the face or hands. The diseased skin is removed surgically or destroyed by freezing or cauterization.... bowen’s disease

The narrowing of the blood vessels in the legs and, less commonly, in the arms. Blood ?ow is restricted, with pain occurring in the affected area. If the blood supply is seriously reduced, GANGRENE of the tissues supplied by the affected vessel(s) may occur and the limb may need to be amputated. The common cause is ATHEROSCLEROSIS which may be brought on by HYPERTENSION, excessively fatty diet, poorly controlled DIABETES MELLITUS or smoking – the latter being the biggest risk factor, with 90 per cent of affected patients having been moderate to heavy smokers. Stopping smoking is essential; adequate exercise and a low-fat diet are important measures. Surgery may be required.... peripheral vascular disease

A condition of the hip in children, due to death and fragmentation of the epiphysis (or spongy extremity) of the head of the femur. The cause is not known. The disease occurs in the 4–10 year age-group, with a peak between the ages of six and eight; it is ten times more common in boys than girls, and is bilateral in 10 per cent of cases. The initial sign is a lurching gait with a limp, accompanied by pain. Treatment consists of limiting aggressive sporting activity which may cause intact overlying CARTILAGE to loosen. Where there are no mechanical symptoms and MRI scanning shows that the cartilage is intact, only minor activity modi?cation may be necesssary – but for several months or even years. Any breach in the cartilage is dealt with at ARTHROSCOPY by ?xing or trimming any loose ?aps. Eventually the disease burns itself out.... perthes’ disease

Another name for glomerulonephritis.... bright’s disease

Any disease affecting an artery in, and supplying blood to, the brain: for example, atherosclerosis (narrowing of the arteries) or defects or weaknesses in arterial walls causing aneurysm (a balloon-like swelling in an artery).

The disease may eventually cause a cerebrovascular accident, which commonly leads to a stroke.

Extensive narrowing of blood vessels throughout the brain can be a cause of dementia.... cerebrovascular disease

See pulmonary disease, chronic obstructive.... chronic obstructive pulmonary disease

A genetic disorder in which the lack of the enzyme glucocerebrosidase leads to accumulation of a fatty substance, glucosylceramide, in the liver, spleen, bone marrow, and, sometimes, in the brain.

It is treated by regular injections of the missing enzyme.... gaucher’s disease

Technically, those diseases occurring in the area of the globe situated between the Tropic of Cancer and the Tropic of Capricorn: pertaining to the sun. They include many ‘exotic’ infections – many of them parasitic in origin – which fall under the umbrella of ‘TROPICAL MEDICINE’. However, disease in the tropics is far broader than this and includes numerous other infections, many of them with a viral or bacterial basis: for example, the viral hepatidises, streptococcal and pneumococcal infections, and tuberculosis. The prevalence of other diseases, such as rheumatic cardiac disease, cirrhosis, heptocellular carcinoma (‘hepatoma’), and various nutrition-related problems, is also much increased in most areas of the tropics. With people from developed countries increasingly travelling to worldwide destinations for business and holiday, the ‘importation’ of tropical diseases to temperate climates should be borne in mind when people fall ill.

The following diseases and conditions are treated under their separate dictionary entries: ANCYLOSTOMIASIS; BERIBERI; BLACKWATER FEVER; CHOLERA; DENGUE; DRACONTIASIS; DYSENTERY; ELEPHANTIASIS; FILARIASIS; HEAT STROKE; LEISHMANIASIS; LEPROSY; LIVER, DISEASES OF; MALARIA; ORIENTAL SORE; PLAGUE; PRICKLY HEAT; SCHISTOSOMIASIS; SLEEPING SICKNESS; STRONGYLOIDIASIS; SUNBURN; YAWS; YELLOW FEVER.... tropical diseases

A complication of a bone marrow transplant in which immune system cells in the transplanted marrow attack the recipient’s tissues. Graft-versus-host (GVH) disease may occur soon after transplantation or appear some months later. The first sign is usually a skin rash. This may be followed by diarrhoea, abdominal pain, jaundice, inflammation of the eyes and mouth, and breathlessness.

GVH disease can usually be prevented by administration of immunosuppressant drugs. If the disease develops, it can be treated with corticosteroid drugs and immunosuppressant drugs such as ciclosporin In some cases, however, it can be difficult to control.... graft-versus-host disease

An uncommon disease in which degeneration of the basal ganglia results in chorea and dementia. Symptoms of Huntington’s disease do not usually appear until age 35–50. The disease is due to a defective gene and is inherited in an autosomal dominant manner (see genetic disorders).

The chorea usually affects the face, arms, and trunk, resulting in random grimaces and twitches, and clumsiness. Dementia takes the form of irritability, personality and behavioural changes, memory loss, and apathy.

At present, there is no cure for Huntington’s disease, and treatment is aimed at reducing symptoms with drugs.... huntington’s disease

A collective term for chronic disorders affecting the small and/or large intestine that cause abdominal pain, bleeding, and diarrhoea. Crohn’s disease and ulcerative colitis are the most common types of inflammatory bowel disease.... inflammatory bowel disease

The most common type of motor neuron disease; also known as amyotrophic lateral sclerosis.... lou gehrig’s disease

See osteopetrosis.... marble bone disease

A rare genetic disorder characterized by muscle stiffness and painful cramps that increase during exertion and afterwards. The cause is a deficiency of an enzyme in muscle cells that stimulates breakdown of the carbohydrate glycogen into the simple sugar glucose. The result is a build-up of glycogen and low levels of glucose in the muscles. Damage to the muscles occurs, causing myoglobinuria (muscle-cell pigment in the urine), which may lead to kidney failure. There is no treatment, but symptoms may be relieved by eating glucose or fructose before exercise.... mcardle’s disease

The name given to a severe form of mercury poisoning that occurred in the mid-1950s, in people who had eaten polluted fish from Minamata Bay, Japan.

Many people suffered severe nerve damage and some died.... minamata disease

See pulmonary disease, chronic obstructive.... obstructive airways disease

Any disorder of the periodontium (the tissues that surround and support the teeth).... periodontal disease

A disorder of the penis in which part of the sheath of fibrous connective tissue thickens, causing the penis to bend during erection. This commonly makes intercourse difficult and painful. Eventually, some of the penile erectile tissue may also thicken. Men over 40 are most often affected. The cause is unknown. The disease may improve without treatment. Otherwise, local injections of corticosteroid drugs or surgical removal of the thickened area and replacement with normal tissue may be carried out.... peyronie’s disease

See rheumatoid arthritis, juvenile.... still’s disease

Another name for neurofibromatosis.... von recklinghausen’s disease

Another name for leptospirosis.... weil’s disease

A rare disorder, also called intestinal lipodystrophy, that can affect many organs. Symptoms include steatorrhoea as a result of malabsorption, abdominal pain, joint pains, progressive weight loss, swollen lymph nodes, anaemia, and fever. The heart, lungs, and brain can also be affected. The condition is most common in middle-aged men.

The cause is thought to be bacterial; affected tissues are found to contain macrophages (a type of scavenging cell) containing rod-shaped bacteria. Treatment is with antibiotic drugs for at least 1 year. Dietary supplements are used to correct nutritional deficiencies occurring as a result of malabsorption.... whipple’s disease

A rare, inherited disorder in which copper accumulates in the liver, resulting in conditions such as hepatitis and cirrhosis. Copper is slowly released into other body parts, damaging the brain, causing mild intellectual impairment, and leading to debilitating rigidity, tremor, and dementia. Symptoms usually appear in adolescence but can occur much earlier or later. Lifelong treatment with penicillamine is needed and, if begun soon enough, can sometimes produce some improvement. If the disease is discovered before the onset of symptoms, the drug may prevent them from developing.... wilson’s disease

(Thromboangiitis obliterans). An inflammatory condition of blood vessels of the legs, tobacco said to be the causative factor. Confined to men, especially Jews.

Symptoms. Intermittent claudication. Affected parts of the leg are much paler than others, the condition regressing to ulceration and possible gangrene. Inflammation of nerves, veins and arteries may lead to clot formation (thrombosis).

Treatment. Stop smoking. Vasodilator herbs.

Alternatives. Cayenne (minute doses), Bayberry, Lime flowers, Lobelia, Prickly Ash, Wahoo bark, Mistletoe, Skullcap, Cactus.

BHP (1983) recommends: Angelica root, Hawthorn berry, Wild Yam.

Decoction. Formula. Equal parts: Hawthorn, Mistletoe, Valerian. 2 teaspoons to two cups water gently simmered 10 minutes. Dose half-1 cup thrice daily, and when necessary.

Tablets/capsules. Alternatives. Prickly Ash 100mg. Hawthorn 200mg. Wild Yam 200mg. Dosage as on bottles.

Powders. Formula. Equal parts: Hawthorn, Wild Yam, Prickly Ash. Dose: 500mg (two 00 capsules or one-third teaspoon) thrice daily.

Tinctures. Formula. Equal parts: Bayberry, Hawthorn, Prickly Ash. Dose: 1-2 teaspoons thrice daily. Practitioner. Tincture Gelsemium BPC (1973). 0.3ml (5 drops) when necessary for relief of pain.

Diet. Low fat, low salt, high fibre.

Supplements. Daily. Vitamin E 1000-1500iu. Vitamin B-complex. Magnesium, Calcium.

Exercise. Physiotherapy exercise. From the sitting position raise legs to horizontal; rest for a few minutes. Lie down and raise legs to 45 degrees; rest for a few minutes. Reverse movements resting each time to equalise the circulation. (Brenda Cooke FNIMH) ... buerger’s disease

The cause of: coronary occlusion, coronary blockage, coronary thrombosis. A heart attack occurs when a coronary artery becomes blocked by swellings composed, among other things, of cholesterol. Such swellings may obstruct the flow of blood leading to a blood clot (thrombus). Cholesterol is a major cause of CHD.

Coronary thrombosis is more common in the West because of its preference for animal fats; whereas in the East fats usually take the form of vegetable oils – corn, sunflower seed, sesame, etc. Fatty deposits (atheroma) form in the wall of the coronary artery, obstructing blood-flow. Vessels narrowed by atheroma and by contact with calcium and other salts become hard and brittle (arterio-sclerosis) and are easily blocked. Robbed of oxygen and nutrients heart muscle dies and is replaced by inelastic fibrous (scar) tissue which robs the heart of its maximum performance.

Severe pain and collapse follow a blockage. Where only a small branch of the coronary arterial tree is affected recovery is possible. Cause of the pain is lack of oxygen (Vitamin E). Incidence is highest among women over 40 who smoke excessively and who take The Pill.

The first warning sign is breathlessness and anginal pain behind the breastbone which radiates to arms and neck. Sensation as if the chest is held in a vice. First-line agent to improve flow of blood – Cactus.

For cholesterol control target the liver. Coffee is a minor risk factor.

Measuring hair calcium levels is said to predict those at risk of coronary heart disease. Low hair concentrations may be linked with poor calcium metabolism, high aortic calcium build-up and the formation of plagues. (Dr Allan MacPherson, nutritionist, Scottish Agricultural College, Ayr, Scotland)

Evidence has been advanced that a diagonal ear lobe crease may be a predictor for coronary heart disease. (American Journal of Cardiology, Dec. 1992)

Tooth decay is linked to an increased risk of coronary heart disease and mortality, particularly in young men. (Dr Frank De Stefano, Marshfield Medical Research Foundation, Wisconsin, USA) Treatment. Urgency. Send for doctor or suitably qualified practitioner. Absolute bedrest for 3 weeks followed by 3 months convalescence. Thereafter: adapt lifestyle to slower tempo and avoid undue exertion. Stop smoking. Adequate exercise. Watch weight.

Cardiotonics: Motherwort, Hawthorn, Mistletoe, Rosemary. Ephedra, Lily of the Valley, Broom.

Cardiac vasodilators relax tension on the vessels by increasing capacity of the arteries to carry more blood. Others contain complex glycosides that stimulate or relax the heart at its work. Garlic is strongly recommended as a preventative of CHD.

Hawthorn, vasodilator and anti-hypertensive, is reputed to dissolve deposits in thickened and sclerotic arteries BHP (1983). It is believed to regulate the balance of lipids (body fats) one of which is cholesterol.

Serenity tea. Equal parts: Motherwort, Lemon Balm, Hawthorn leaves or flowers. 1 heaped teaspoon to each cup boiling water; infuse 5-15 minutes; 1 cup freely.

Decoction. Combine equal parts: Broom, Lily of the Valley, Hawthorn. 1-2 teaspoons to each cup water gently simmered 20 minutes. Half-1 cup freely.

Tablets/capsules. Hawthorn, Motherwort, Cactus, Mistletoe, Garlic.

Practitioner. Formula. Hawthorn 20ml; Lily of the Valley 10ml; Pulsatilla 5ml; Stone root 5ml; Barberry 5ml. Tincture Capsicum 1ml. Dose: Powders: 500mg (two 00 capsules or one-third teaspoon). Liquid extracts: 1 teaspoon. Tinctures: 2 teaspoons. Thrice daily in water or honey.

Prevention: Vitamin E – 400iu daily.

Diet. See: DIET – HEART AND CIRCULATION.

Supplements. Daily. Vitamin C, 2g. Vitamin E possesses anti-clotting properties, 400iu. Broad spectrum multivitamin and mineral including chromium, magnesium selenium, zinc, copper.

Acute condition. Strict bed-rest; regulate bowels; avoid excessive physical and mental exertion. Meditation and relaxation techniques dramatically reduce coronary risk. ... coronary heart disease

originally, a disease transmitted only by direct physical contact: now usually taken to mean any *communicable disease.... contagious disease

Hashimoto’s thyroiditis. Inflammation of the Thyroid gland with increase of fibrous tissue and intrusion of excess white blood cells. Forerunner of myxoedema. It is an auto-immune disorder resulting in thyroid damage. Middle-aged women prone. Painless swelling.

Alternatives. Treatment. Echinacea is the key remedy.

Others indicated: Red Clover flower, Blue Flag root, Horsetail, Poke root, Bladderwrack. May be taken singly, as available.

Tea: Combine Bladderwrack 2; Echinacea 2; Horsetail 1. 1-2 teaspoons to each cup boiling water; infuse 15 minutes. Half-1 cup thrice daily.

Tinctures. Combine: Bladderwrack 2; Echinacea 2; Horsetail 1. Dose: one to two 5ml teaspoons in water thrice daily.

Diet. Iodised salt. Avoid cabbage which contains a factor which depresses the thyroid gland. Supplementation. Vitamin A. B-complex. Kelp. ... hashimoto’s disease

Heart disease arising from abnormal development. Some cases are hereditary, others due to drugs taken during pregnancy. Many owe their origin to illnesses of the mother such as German measles. Structural abnormalities of the heart take different forms but whatever the case, when under abnormal pressure and stress, all may derive some small benefit from the sustaining properties of Hawthorn berry and other phytomedicines.

Alternatives. To sustain.

Teas. Lime flowers, Motherwort, Buckwheat, Hawthorn.

Tablets/capsules. Hawthorn, Mistletoe, Motherwort.

Formula. Hawthorn 2; Lily of the Valley 1; Selenicereus grandiflorus 1. Powders: 500mg (two 00 capsules or one-third teaspoon). Liquid extracts: 1 teaspoon. Tinctures: 2 teaspoons. In water morning and evening. ... heart disease – congenital

Notifiable diseases under the Public Health (Control of Disease Act, 1984) are:–

Acute encephalitis, acute meningitis, acute poliomyelitis, anthrax, cholera, diphtheria, dysentery (amoebic and bacillary), food poisoning, infective jaundice, leprosy, leptospirosis, lassa fever, mumps, malaria, marburg disease, measles, German measles, ophthalmia neonatorum, paratyphoid fever, plague, rabies, relapsing fever, scarlet fever, smallpox, tetanus, tuberculosis, typhoid fever, typhus, viral haemorrhagic fever, whooping cough and yellow fever.

Six communicable diseases are internationally notifiable to the World Health Organisation: yellow fever, plague, cholera, smallpox, louse-borne relapsing fever, louse-borne typhus.

Notification has to be made to local and central Government authorities. Certain occupational diseases and all cases of cancer must be registered and notified.

It is required that the above diseases and certain others receive modern medical therapy in a hospital or treatment under the supervision of a qualified physician. Failure to conform may expose a practitioner, registered or unregistered, to a charge of negligence. ... notifiable diseases

Narrowing of the coronary arteries, which supply blood to the heart, leading to damage or malfunction of the heart. The most common heart disorders due to coronary artery disease are angina pectoris and myocardial infarction (heart attack). The usual cause of narrowing of the arteries is atherosclerosis, in which fatty plaques develop on the artery linings. The vessel can become totally blocked if a blood clot forms or lodges in the narrowed area. Atherosclerosis has many interrelated causes including smoking, a high-fat diet, lack of exercise, being overweight, and raised blood cholesterol levels. Other factors include a genetic predisposition and diseases such as diabetes mellitus and hypertension.

The first symptom of coronary artery disease is frequently the chest pain of angina. Treatment is with drugs such as glyceryl trinitrate and other nitrate drugs, beta-blockers, calcium channel blockers, potassium channel activators, and vasodilator drugs. If drug treatment fails to relieve the symptoms, or there is extensive narrowing of the coronary

arteries, blood flow may be improved by balloon angioplasty or coronary artery bypass surgery.... coronary artery disease

An infectious disease that causes a widespread rash. Also known as slapped cheek disease or erythema infectiosum, fifth disease mainly affects children and is caused by a virus called parvovirus. The rash starts on the cheeks as separate, rose-red, raised spots, which subsequently converge to give the characteristic appearance. Within a few days, the rash spreads in a lacy pattern over the limbs but only sparsely on the trunk. It is often accompanied by mild fever. The rash usually clears after about 10 days. Adults, who contract the disease only rarely, may have joint pain and swelling lasting for up to 2 years. The incubation period is 7 to 14 days, and the only treatment is drugs to reduce the fever.... fifth disease

A congenital disorder in which the rectum, and sometimes the lower part of the colon, lack the ganglion cells that control the intestine’s rhythmic contractions. The affected area becomes narrowed and blocks the movement of faecal material.

The disease is rare and tends to run in families. It occurs about 4 times more often in boys. Symptoms, which include constipation and bloating, usually develop in the first few weeks of life, but may become evident in infancy or early childhood. The child usually has a poor appetite and may fail to grow properly.

A barium X-ray examination can show the narrowed segment of the intestine.

A biopsy may be taken.

Treatment of Hirschsprung’s disease involves removing the narrowed segment and rejoining the normal intestine to the anus.... hirschsprung’s disease

A group of disorders in which there is degeneration of the nerves in the central nervous system that control muscular activity. This causes weakness and wasting of the muscles. The cause is unknown.

The most common type of motor neuron disease is amyotrophic lateral sclerosis ( or Lou Gehrig’s disease). It usually affects people over the age of 50 and is more common in men. Some cases run in families. Usually, symptoms start with weakness in the hands and arms or legs, and muscle wasting. There may be irregular muscle contractions, and muscle cramps or stiffness. All four extremities are soon affected.

Progressive muscular atrophy and progressive bulbar palsy both start with patterns of muscle weakness different from but usually develop into.There are 2 types of motor neuron disease that first appear in childhood or adolescence. In most cases, these conditions are inherited. Werdnig–Hoffman disease affects infants at birth or soon afterwards. In almost all cases, progressive muscle weakness leads to death within several years. Chronic spinal muscular atrophy begins in childhood or adolescence, causing progressive weakness but not always serious disability.

There are no specific tests for motor neuron disease. Diagnosis is based on careful clinical examination by a neurologist. Tests including EMG, muscle biopsy, blood tests, myelography, CT scanning, or MRI may be performed.

The disease typically goes on to affect the muscles involved in breathing and swallowing, leading to death within 2–4 years. However, about 10 per cent of sufferers survive for 10 years.

Nerve degeneration cannot be slowed down, but physiotherapy and the use of various aids may help to reduce disability. The drug riluzole is used to extend life (or the time until mechanical ventilation is required).... motor neuron disease

A disorder of the blood vessels in which exposure to cold causes the small arteries supplying the fingers and toes to contract suddenly. This cuts off blood flow to the digits, which become pale. The fingers are more often affected than the toes. The cause is unknown, but young women are most commonly affected.

On exposure to cold, the digits turn white due to lack of blood. As sluggish blood flow returns, the digits become blue; when they are warmed and normal blood flow returns, they turn red. During an attack, there is often tingling, numbness, or a burning feeling in the affected fingers or toes. In rare cases, the artery walls gradually thicken, permanently reducing blood flow. Eventually painful ulceration or even gangrene may develop at the tips of the affected digits.

Diagnosis is made from the patient’s history. Treatment involves keeping the hands and feet as warm as possible. Vasodilator drugs or calcium channel blockers may be helpful in severe cases. (See also Raynaud’s phenomenon.)... raynaud’s disease

An inherited lifelong bleeding disorder similar to haemophilia. People with the condition have a reduced concentration in their blood of a substance called von Willebrand factor, which helps platelets in the blood to plug injured blood vessel walls and forms part of factor VIII (a substance vital to blood coagulation). Symptoms of deficiency of this factor include excessive bleeding from the gums and from cuts and nosebleeds. Women may have heavy menstrual bleeding. In severe cases, bleeding into joints and muscles may occur.

The disease is diagnosed by bloodclotting tests and measurement of blood levels of von Willebrand factor. Bleeding episodes can be prevented or controlled by desmopressin (a substance resembling ADH). Factor or concentrated von Willebrand factor may also be used to treat bleeding.... von willebrand’s disease

See under STOMACH, DISEASES OF; INTESTINE, DISEASES OF; DIARRHOEA; LIVER, DISEASES OF; PANCREAS, DISEASES OF; GALL-BLADDER, DISEASES OF; KIDNEYS, DISEASES OF; URINARY BLADDER, DISEASES OF; HERNIA; PERITONITIS; APPENDICITIS; TUMOUR.

Various processes that can occur include in?ammation, ulceration, infection or tumour. Abdominal disease may be of rapid onset, described as acute, or more long-term when it is termed chronic.

An ‘acute abdomen’ is most commonly caused by peritonitis – in?ammation of the membrane that lines the abdomen. If any structure in the abdomen gets in?amed, peritonitis may result. Causes include injury, in?ammation of the Fallopian tubes (SALPINGITIS), and intestinal disorders such as APPENDICITIS, CROHN’S DISEASE, DIVERTICULITIS or a perforated PEPTIC ULCER. Disorders of the GALLBLADDER or URINARY TRACT may also result in acute abdominal pain.

General symptoms of abdominal disease include:

Pain This is usually ill-de?ned but can be very unpleasant, and is termed visceral pain. Pain is initially felt near the mid line of the abdomen. Generally, abdominal pain felt high up in the mid line originates from the stomach and duodenum. Pain that is felt around the umbilicus arises from the small intestine, appendix and ?rst part of the large bowel, and low mid-line pain comes from the rest of the large bowel. If the diseased organ secondarily in?ames or infects the lining of the abdominal wall – the PERITONEUM – peritonitis occurs and the pain becomes more de?ned and quite severe, with local tenderness over the site of the diseased organ itself. Hence the pain of appendicitis begins as a vague mid-line pain, and only later moves over to the right iliac fossa, when the in?amed appendix has caused localised peritonitis. PERFORATION of one of the hollow organs in the abdomen – for example, a ruptured appendix or a gastric or duodenal ulcer (see STOMACH, DISEASES OF) eroding the wall of the gut – usually causes peritonitis with resulting severe pain.

The character of the pain is also important. It may be constant, as occurs in in?ammatory diseases and infections, or colicky (intermittent) as in intestinal obstruction.

Swelling The commonest cause of abdominal swelling in women is pregnancy. In disease, swelling may be due to the accumulation of trapped intestinal contents within the bowel, the presence of free ?uid (ascites) within the abdomen, or enlargement of one or more of the abdominal organs due to benign causes or tumour.

Constipation is the infrequent or incomplete passage of FAECES; sometimes only ?atus can be passed and, rarely, no bowel movements occur (see main entry for CONSTIPATION). It is often associated with abdominal swelling. In intestinal obstruction, the onset of symptoms is usually rapid with complete constipation and severe, colicky pain. In chronic constipation, the symptoms occur more gradually.

Nausea and vomiting may be due to irritation of the stomach, or to intestinal obstruction when it may be particularly foul and persistent. There are also important non-abdominal causes, such as in response to severe pain or motion sickness.

Diarrhoea is most commonly due to simple and self-limiting infection, such as food poisoning, but may also indicate serious disease, especially if it is persistent or contains blood (see main entry for DIARRHOEA).

Jaundice is a yellow discoloration of the skin and eyes, and may be due to disease in the liver or bile ducts (see main entry for JAUNDICE).

Diagnosis and treatment Abdominal diseases are often di?cult to diagnose because of the multiplicity of the organs contained within the abdomen, their inconstant position and the vagueness of some of the symptoms. Correct diagnosis usually requires experience, often supplemented by specialised investigations such as ULTRASOUND. For this reason sufferers should obtain medical advice at an early stage, particularly if the symptoms are severe, persistent, recurrent, or resistant to simple remedies.... abdomen, diseases of

A disease which is characterized by a single or repeated episode of relatively rapid onset and short duration from which the patient usually returns to his/her normal or previous state or level of activity. An acute episode of a chronic disease (for example, an episode of diabetic coma in a patient with diabetes) is often treated as an acute disease.... acute disease / illness

The cause of Addison’s disease (also called chronic adrenal insu?ciency and hypocortisolism) is a de?ciency of the adrenocortical hormones CORTISOL, ALDOSTERONE and androgens (see ANDROGEN) due to destruction of the adrenal cortex (see ADRENAL GLANDS). It occurs in about 1 in 25,000 of the population. In the past, destruction of the adrenal cortex was due to TUBERCULOSIS (TB), but nowadays fewer than 20 per cent of patients have TB while 70 per cent suffer from autoimmune damage. Rare causes of Addison’s disease include metastases (see METASTASIS) from CARCINOMA, usually of the bronchus; granulomata (see GRANULOMA); and HAEMOCHROMATOSIS. It can also occur as a result of surgery for cancer of the PITUITARY GLAND destroying the cells which produce ACTH (ADRENOCORTICOTROPHIC HORMONE)

– the hormone which provokes the adrenal cortex into action.

Symptoms The clinical symptoms appear slowly and depend upon the severity of the underlying disease process. The patient usually complains of appetite and weight loss, nausea, weakness and fatigue. The skin becomes pigmented due to the increased production of ACTH. Faintness, especially on standing, is due to postural HYPOTENSION secondary to aldosterone de?ciency. Women lose their axillary hair and both sexes are liable to develop mental symptoms such as DEPRESSION. Acute episodes – Addisonian crises – may occur, brought on by infection, injury or other stressful events; they are caused by a fall in aldosterone levels, leading to abnormal loss of sodium and water via the kidneys, dehydration, low blood pressure and confusion. Patients may develop increased tanning of the skin from extra pigmentation, with black or blue discoloration of the skin, lips, mouth, rectum and vagina occurring. ANOREXIA, nausea and vomiting are common and the sufferer may feel cold.

Diagnosis This depends on demonstrating impaired serum levels of cortisol and inability of these levels to rise after an injection of ACTH.

Treatment consists in replacement of the de?cient hormones. HYDROCORTISONE tablets are commonly used; some patients also require the salt-retaining hormone, ?udrocortisone. Treatment enables them to lead a completely normal life and to enjoy a normal life expectancy. Before surgery, or if the patient is pregnant and unable to take tablets, injectable hydrocortisone may be needed. Rarely, treated patients may have a crisis, perhaps because they have not been taking their medication or have been vomiting it. Emergency resuscitation is needed with ?uids, salt and sugar. Because of this, all patients should carry a card detailing their condition and necessary management. Treatment of any complicating infections such as tuberculosis is essential. Sometimes DIABETES MELLITUS coexists with Addison’s disease and must be treated.

Secondary adrenal insu?ciency may occur in panhypopituitarism (see PITUITARY GLAND), in patients treated with CORTICOSTEROIDS or after such patients have stopped treatment.... addison’s disease

A factor, such as a micro-organism, chemical substance, form of radiation, or excessive cold or heat, which is essential for the occurrence of a disease. A disease may be caused by more than one agent acting together or, in the case of deficiency diseases, by the absence of an agent.... agent (of disease)

Alzheimer’s disease is a progressive degenerating process of neural tissue affecting mainly the frontal and temporal lobes of the BRAIN in middle and late life. There is probably a genetic component to Alzheimer’s disease, but early-onset Alzheimer’s is linked to certain mutations, or changes, in three particular GENES. Examination of affected brains shows ‘senile plaques’ containing an amyloid-like material distributed throughout an atrophied cortex (see AMYLOID PLAQUES). Many remaining neurons, or nerve cells, show changes in their NEUROFIBRILS which thicken and twist into ‘neuro?brillary tangles’. First symptoms are psychological with insidious impairment of recent memory and disorientation in time and space. This becomes increasingly associated with diffculties in judgement, comprehension and abstract reasoning. After very few years, progressive neurological deterioration produces poor gait, immobility and death. When assessment has found no other organic cause for an affected individual’s symptoms, treatment is primarily palliative. The essential part of treatment is the provision of appropriate nursing and social care, with strong support being given to the relatives or other carers for whom looking after sufferers is a prolonged and onerous burden. Proper diet and exercise are helpful, as is keeping the individual occupied. If possible, sufferers should stay in familiar surroundings with day-care and short-stay institutional facilities a useful way of maintaining them at home for as long as possible.

TRANQUILLISERS can help control di?cult behaviour and sleeplessness but should be used with care. Recently drugs such as DONEPEZIL and RIVASTIGMINE, which retard the breakdown of ACETYLCHOLINE, may check

– but not cure – this distressing condition. About 40 per cent of those with DEMENTIA improve.

Research is in progress to transplant healthy nerve cells (developed from stem cells) into the brain tissue of patients with Alzheimer’s disease with the aim of improving brain function.

The rising proportion of elderly people in the population is resulting in a rising incidence of Alzheimer’s, which is rare before the age of 60 but increases steadily thereafter so that 30 per cent of people over the age of 84 are affected.... alzheimer’s disease

See under RECTUM, DISEASES OF.... anus, diseases of

ARTERIES are the blood vessels that convey blood away from the heart to the tissues. The commonest cause of arterial disease is a degenerative condition known as atherosclerosis. Less commonly, in?ammation of the arteries occurs; this in?ammation is known as arteritis and occurs in a variety of conditions.

Atherosclerosis is due to the deposition of CHOLESTEROL into the walls of arteries. The process starts in childhood with the development of fatty streaks lining the arteries. In adulthood these progress, scarring and calcifying to form irregular narrowings within the arteries and eventually leading to blockage of the vessel. The consequence of the narrowing or blockage depends on which vessels are involved

– diseased cerebral vessels cause strokes; coronary vessels cause angina and heart attacks; renal vessels cause renal failure; and peripheral arteries cause limb ischaemia (localised bloodlessness).

Risk factors predisposing individuals to atherosclerosis include age, male gender, raised plasma cholesterol concentration, high blood pressure, smoking, a family history of atherosclerosis, diabetes and obesity.

Arteritis occurs in a variety of conditions that produce in?ammation in the arteries. Examples include syphilis – now rare in Britain

– which produces in?ammation of the aorta with subsequent dilatation (aneurysm formation) and risk of rupture; giant cell arteritis (temporal arteritis), a condition usually affecting the elderly, which involves the cranial arteries and leads to headache, tenderness over the temporal arteries and the risk of sudden blindness; Takayasu’s syndrome, predominantly affecting young females, which involves the aortic arch and its major branches, leading to the absence of pulse in affected vessels; and polyarteritis nodosa, a condition causing multiple small nodules to form on the smaller arteries. General symptoms such as fever, malaise, weakness, anorexia and weight loss are accompanied by local manifestations of ischaemia (bloodlessness) in di?erent parts of the body.... arteries, diseases of

See URINARY BLADDER, DISEASES OF and GALLBLADDER, DISEASES OF; see also URINE.... bladder, diseases of

See ANAEMIA; LEUKAEMIA; LYMPHOMA; MYELOMATOSIS; THROMBOSIS.... blood, diseases of

An uncommon chronic localised skin disease, presenting as a solitary chronic ?xed irregular plaque mimicking eczema or psoriasis. It is a fairly benign form of CARCINOMA in situ in the EPIDERMIS but can occasionally become invasive. It is curable by CRYOTHERAPY or surgical excision.... bowen’s disease

See KIDNEYS, DISEASES OF – Glomerulonephritis.... bright’s disease

See THROMBOANGIITIS OBLITERANS.... buerger’s disease

The total significance of disease for society beyond the immediate cost of treatment. It measures years of life lost to ill-health as the difference between total life expectancy and disability-adjusted life expectancy.... burden of disease

These consist either of expanding masses (lumps or tumours), or of areas of shrinkage (atrophy) due to degeneration, or to loss of blood supply, usually from blockage of an artery.

Tumours All masses cause varying combinations of headache and vomiting – symptoms of raised pressure within the inexpansible bony box formed by the skull; general or localised epileptic ?ts; weakness of limbs or disordered speech; and varied mental changes. Tumours may be primary, arising in the brain, or secondary deposits from tumours arising in the lung, breast or other organs. Some brain tumours are benign and curable by surgery: examples include meningiomas and pituitary tumours. The symptoms depend on the size and situation of the mass. Abscesses or blood clots (see HAEMATOMA) on the surface or within the brain may resemble tumours; some are removable. Gliomas ( see GLIOMA) are primary malignant tumours arising in the glial tissue (see GLIA) which despite surgery, chemotherapy and radiotherapy usually have a bad prognosis, though some astrocytomas and oligodendronogliomas are of low-grade malignancy. A promising line of research in the US (in the animal-testing stage in 2000) suggests that the ability of stem cells from normal brain tissue to ‘home in’ on gliomal cells can be turned to advantage. The stem cells were chemically manipulated to carry a poisonous compound (5-?uorouracil) to the gliomal cells and kill them, without damaging normal cells. Around 80 per cent of the cancerous cells in the experiments were destroyed in this way.

Clinical examination and brain scanning (CT, or COMPUTED TOMOGRAPHY; magnetic resonance imaging (MRI) and functional MRI) are safe, accurate methods of demonstrating the tumour, its size, position and treatability.

Strokes When a blood vessel, usually an artery, is blocked by a clot, thrombus or embolism, the local area of the brain fed by that artery is damaged (see STROKE). The resulting infarct (softening) causes a stroke. The cells die and a patch of brain tissue shrinks. The obstruction in the blood vessel may be in a small artery in the brain, or in a larger artery in the neck. Aspirin and other anti-clotting drugs reduce recurrent attacks, and a small number of people bene?t if a narrowed neck artery is cleaned out by an operation – endarterectomy. Similar symptoms develop abruptly if a blood vessel bursts, causing a cerebral haemorrhage. The symptoms of a stroke are sudden weakness or paralysis of the arm and leg of the opposite side to the damaged area of brain (HEMIPARESIS), and sometimes loss of half of the ?eld of vision to one side (HEMIANOPIA). The speech area is in the left side of the brain controlling language in right-handed people. In 60 per cent of lefthanders the speech area is on the left side, and in 40 per cent on the right side. If the speech area is damaged, diffculties both in understanding words, and in saying them, develops (see DYSPHASIA).

Degenerations (atrophy) For reasons often unknown, various groups of nerve cells degenerate prematurely. The illness resulting is determined by which groups of nerve cells are affected. If those in the deep basal ganglia are affected, a movement disorder occurs, such as Parkinson’s disease, hereditary Huntington’s chorea, or, in children with birth defects of the brain, athetosis and dystonias. Modern drugs, such as DOPAMINE drugs in PARKINSONISM, and other treatments can improve the symptoms and reduce the disabilities of some of these diseases.

Drugs and injury Alcohol in excess, the abuse of many sedative drugs and arti?cial brain stimulants – such as cocaine, LSD and heroin (see DEPENDENCE) – can damage the brain; the effects can be reversible in early cases. Severe head injury can cause localised or di?use brain damage (see HEAD INJURY).

Cerebral palsy Damage to the brain in children can occur in the uterus during pregnancy, or can result from rare hereditary and genetic diseases, or can occur during labour and delivery. Severe neurological illness in the early months of life can also cause this condition in which sti? spastic limbs, movement disorders and speech defects are common. Some of these children are learning-disabled.

Dementias In older people a di?use loss of cells, mainly at the front of the brain, causes ALZHEIMER’S DISEASE – the main feature being loss of memory, attention and reasoned judgement (dementia). This affects about 5 per cent of the over-80s, but is not simply due to ageing processes. Most patients require routine tests and brain scanning to indicate other, treatable causes of dementia.

Response to current treatments is poor, but promising lines of treatment are under development. Like Parkinsonism, Alzheimer’s disease progresses slowly over many years. It is uncommon for these diseases to run in families. Multiple strokes can cause dementia, as can some organic disorders such as cirrhosis of the liver.

Infections in the brain are uncommon. Viruses such as measles, mumps, herpes, human immunode?ciency virus and enteroviruses may cause ENCEPHALITIS – a di?use in?ammation (see also AIDS/HIV).

Bacteria or viruses may infect the membrane covering the brain, causing MENINGITIS. Viral meningitis is normally a mild, self-limiting infection lasting only a few days; however, bacterial meningitis – caused by meningococcal groups B and C, pneumococcus, and (now rarely) haemophilus – is a life-threatening condition. Antibiotics have allowed a cure or good control of symptoms in most cases of meningitis, but early diagnosis is essential. Severe headaches, fever, vomiting and increasing sleepiness are the principal symptoms which demand urgent advice from the doctor, and usually admission to hospital. Group B meningococcus is the commonest of the bacterial infections, but Group C causes more deaths. A vaccine against the latter has been developed and has reduced the incidence of cases by 75 per cent.

If infection spreads from an unusually serious sinusitis or from a chronically infected middle ear, or from a penetrating injury of the skull, an abscess may slowly develop. Brain abscesses cause insidious drowsiness, headaches, and at a late stage, weakness of the limbs or loss of speech; a high temperature is seldom present. Early diagnosis, con?rmed by brain scanning, is followed by antibiotics and surgery in hospital, but the outcome is good in only half of affected patients.

Cerebral oedema Swelling of the brain can occur after injury, due to engorgement of blood vessels or an increase in the volume of the extravascular brain tissue due to abnormal uptake of water by the damaged grey (neurons) matter and white (nerve ?bres) matter. This latter phenomenon is called cerebral oedema and can seriously affect the functioning of the brain. It is a particularly dangerous complication following injury because sometimes an unconscious person whose brain is damaged may seem to be recovering after a few hours, only to have a major relapse. This may be the result of a slow haemorrhage from damaged blood vessels raising intracranial pressure, or because of oedema of the brain tissue in the area surrounding the injury. Such a development is potentially lethal and requires urgent specialist treatment to alleviate the rising intracranial pressure: osmotic agents (see OSMOSIS) such as mannitol or frusemide are given intravenously to remove the excess water from the brain and to lower intracranial pressure, buying time for de?nitive investigation of the cranial damage.... brain, diseases of

The female breasts may be expected to undergo hormone-controlled enlargement at puberty, and later in pregnancy, and the glandular part of the breast undergoes evolution (shrinkage) after the menopause. The breast can also be affected by many di?erent diseases, with common symptoms being pain, nipple discharge or retraction, and the formation of a lump within the breast.

Benign disease is much more common than cancer, particularly in young women, and includes acute in?ammation of the breast (mastitis); abscess formation; and benign breast lumps, which may be ?broadenosis – di?use lumpiness also called chronic mastitis or ?brocystic disease – in which one or more ?uid-?lled sacs (cysts) develop.

Women who are breast feeding are particularly prone to mastitis, as infection may enter the breast via the nipple. The process may be arrested before a breast abscess forms by prompt treatment with antibiotics. Non-bacterial in?ammation may result from mammary duct ectasia (dilatation), in which abnormal or

blocked ducts may over?ow. Initial treatments should be with antibiotics, but if an abscess does form it should be surgically drained.

Duct ectasia, with or without local mastitis, is the usual benign cause of various nipple complaints, with common symptoms being nipple retraction, discharge and skin change.

Breast lumps form the chief potential danger and may be either solid or cystic. Simple examination may fail to distinguish the two types, but aspiration of a benign cyst usually results in its disappearance. If the ?uid is bloodstained, or if a lump still remains, malignancy is possible, and all solid lumps need histological (tissue examination) or cytological (cell examination) assessment. As well as having their medical and family history taken, any women with a breast lump should undergo triple assessment: a combination of clinical examination, imaging

– mammography for the over-35s and ultrasonagraphy for the under-35s – and ?ne-needle aspiration. The medical history should include details of any previous lumps, family history (up to 10 per cent of breast cancer in western countries is due to genetic disposition), pain, nipple discharge, change in size related to menstrual cycle and parous state, and any drugs being taken by the patient. Breasts should be inspected with the arms up and down, noting position, size, consistency, mobility, ?xity, and local lymphadenopathy (glandular swelling). Nipples should be examined for the presence of inversion or discharge. Skin involvement (peau d’orange) should be noted, and, in particular, how long changes have been present. Fine-needle aspiration and cytological examination of the ?uid are essential with ULTRASOUND, MAMMOGRAPHY and possible BIOPSY being considered, depending on the patient’s age and the extent of clinical suspicion that cancer may be present.

The commonest solid benign lump is a ?broadenoma, particularly in women of childbearing age, and is a painless, mobile lump. If small, it is usually safe to leave it alone, provided that the patient is warned to seek medical advice if its size or character changes or if the lump becomes painful. Fibroadenosis (di?use lumpiness often in the upper, outer quadrant) is a common (benign) lump. Others include periductal mastitis, fat NECROSIS, GALACTOCELE, ABSCESS, and non-breast-tissue lumps – for example, a LIPOMA (fatty tissue) or SEBACEOUS CYST. A woman with breast discharge should have a mammograph, ductograph, or total duct excision until the cause of any underlying duct ectasia is known. Appropriate treatment should then be given.

Malignant disease most commonly – but not exclusively – occurs in post-menopausal women, classically presenting as a slowly growing, painless, ?rm lump. A bloodstained nipple discharge or eczematous skin change may also be suggestive of cancer.

The most commonly used classi?cation of invasive cancers has split them into two types, ductal and lobular, but this is no longer suitable. There are also weaknesses in the tumour node metastases (TNM) system and the International Union Against Cancer (UICC) classi?cation.

The TNM system – which classi?es the lump by size, ?xity and presence of affected axillary glands and wider metastatic spread – is best combined with a pathological classi?cation, when assessing the seriousness of a possibly cancerous lump. Risk factors for cancer include nulliparity (see NULLIPARA), ?rst pregnancy over the age of 30 years, early MENARCHE, late MENOPAUSE and positive family history. The danger should be considered in women who are not breast feeding or with previous breast cancer, and must be carefully excluded if the woman is taking any contraceptive steroids or is on hormone-replacement therapy (see under MENOPAUSE).

Screening programmes involving mammography are well established, the aim being to detect more tumours at an early and curable stage. Pick-up rate is ?ve per 1,000 healthy women over 50 years. Yearly two-view mammograms could reduce mortality by 40 per cent but may cause alarm because there are ten false positive mammograms for each true positive result. In premenopausal women, breasts are denser, making mammograms harder to interpret, and screening appears not to save lives. About a quarter of women with a palpable breast lump turn out to have cancer.

Treatment This remains controversial, and all options should be carefully discussed with the patient and, where appropriate, with her partner. Locally contained disease may be treated by local excision of the lump, but sampling of the glands of the armpit of the same side should be performed to check for additional spread of the disease, and hence the need for CHEMOTHERAPY or RADIOTHERAPY. Depending on the extent of spread, simple mastectomy or modi?ed radical mastectomy (which removes the lymph nodes draining the breast) may be required. Follow-up chemotherapy, for example, with TAMOXIFEN (an oestrogen antagonist), much improves survival (it saves 12 lives over 100 women treated), though it may occasionally cause endometrial carcinoma. Analysis in the mid-1990s of large-scale international studies of breast-cancer treatments showed wide variations in their e?ectiveness. As a result the NHS has encouraged hospitals to set up breast-treatment teams containing all the relevant health professional experts and to use those treatments shown to be most e?ective.

As well as the physical treatments provided, women with suspected or proven breast cancer should be o?ered psychological support because up to 30 per cent of affected women develop an anxiety state or depressive illness within a year of diagnosis. Problems over body image and sexual diffculties occur in and around one-quarter of patients. Breast conservation and reconstructive surgery can improve the physical effects of mastectomy, and women should be advised on the prostheses and specially designed brassieres that are available. Specialist nurses and self-help groups are invaluable in supporting affected women and their partners with the problems caused by breast cancer and its treatment. Breast Cancer Care, British Association of Cancer United Patients (BACUP), Cancerlink, and Cancer Relief Macmillan Fund are among voluntary organisations providing support.... breasts, diseases of

See INFECTION.... carriers of disease

A disease which has one or more of the following characteristics: is permanent; leaves residual disability; is caused by non­reversible pathological alternation; requires special training of the patient for rehabilitation; or may be expected to require a long period of supervision, observation or care.... chronic condition / disease

The control of disease caused by infectious agents or their toxic products. Successes in the 19th and 20th centuries in the treatment and control of communicable diseases such as SMALLPOX, CHOLERA, TUBERCULOSIS, gastrointestinal infections, POLIOMYELITIS and SEXUALLY TRANSMITTED DISEASES (STDS) resulted in an erroneous conception that they no longer posed a serious threat to public health, and certainly not in developed countries. As a consequence, the maintenance of e?ective public health strategies steadily lost out in the competition for resources to the more ‘glamorous’ developments in medicine, such as improved CANCER treatments, HEART surgery, kidney DIALYSIS and organ TRANSPLANTATION. However, in recent decades the dangers of this approach have become increasingly apparent. Rapidly expanding urban populations, more complex lifestyles, new and resurgent infections (some linked to a spread of antibiotic resistance) such as AIDS/HIV and variant CREUTZFELDT-JAKOB DISEASE (CJD), and the ease with which infection can be spread by the enormous growth of long-distance travel and population migrations are severely straining existing public health measures. The supply of clean water, e?ective waste- and sewage-disposal measures, the hygienic production and delivery of food and early detection and subsequent prevention of infectious diseases can no longer be taken for granted. Governments will need to strengthen the provision of workable, properly resourced public health facilities, and developing countries will need ?nancial support and expert help from developed nations to achieve this objective. Timely recognition of new and resurgent infectious diseases requires national and international early-warning mechanisms to ensure rapid investigation and implementation of e?ective control measures. Otherwise, serious breakdowns in public health will occur, and international co-operation is vital to provide and support control measures. (See also COMMUNICABLE DISEASE; NOTIFIABLE DISEASES.)... communicable diseases control

Any disease resulting from the absence from the diet of any substance essential to good health: for example, one of the vitamins.... deficiency disease

This is a term encompassing chronic BRONCHITIS, EMPHYSEMA, and chronic ASTHMA where the air?ow into the lungs is obstructed.

Chronic bronchitis is typi?ed by chronic productive cough for at least three months in two successive years (provided other causes such as TUBERCULOSIS, lung cancer and chronic heart failure have been excluded). The characteristics of emphysema are abnormal and permanent enlargement of the airspaces (alveoli) at the furthermost parts of the lung tissue. Rupture of alveoli occurs, resulting in the creation of air spaces with a gradual breakdown in the lung’s ability to oxygenate the blood and remove carbon dioxide from it (see LUNGS). Asthma results in in?ammation of the airways with the lining of the BRONCHIOLES becoming hypersensitive, causing them to constrict. The obstruction may spontaneously improve or do so in response to bronchodilator drugs. If an asthmatic patient’s airway-obstruction is characterised by incomplete reversibility, he or she is deemed to have a form of COPD called asthmatic bronchitis; sufferers from this disorder cannot always be readily distinguished from those people who have chronic bronchitis and/ or emphysema. Symptoms and signs of emphysema, chronic bronchitis and asthmatic bronchitis overlap, making it di?cult sometimes to make a precise diagnosis. Patients with completely reversible air?ow obstruction without the features of chronic bronchitis or emphysema, however, are considered to be suffering from asthma but not from COPD.

The incidence of COPD has been increasing, as has the death rate. In the UK around 30,000 people with COPD die annually and the disorder makes up 10 per cent of all admissions to hospital medical wards, making it a serious cause of illness and disability. The prevalence, incidence and mortality rates increase with age, and more men than women have the disorder, which is also more common in those who are socially disadvantaged.

Causes The most important cause of COPD is cigarette smoking, though only 15 per cent of smokers are likely to develop clinically signi?cant symptoms of the disorder. Smoking is believed to cause persistent airway in?ammation and upset the normal metabolic activity in the lung. Exposure to chemical impurities and dust in the atmosphere may also cause COPD.

Signs and symptoms Most patients develop in?ammation of the airways, excessive growth of mucus-secreting glands in the airways, and changes to other cells in the airways. The result is that mucus is transported less e?ectively along the airways to eventual evacuation as sputum. Small airways become obstructed and the alveoli lose their elasticity. COPD usually starts with repeated attacks of productive cough, commonly following winter colds; these attacks progressively worsen and eventually the patient develops a permanent cough. Recurrent respiratory infections, breathlessness on exertion, wheezing and tightness of the chest follow. Bloodstained and/or infected sputum are also indicative of established disease. Among the symptoms and signs of patients with advanced obstruction of air?ow in the lungs are:

RHONCHI (abnormal musical sounds heard through a STETHOSCOPE when the patient breathes out).

marked indrawing of the muscles between the ribs and development of a barrel-shaped chest.

loss of weight.

CYANOSIS in which the skin develops a blue tinge because of reduced oxygenation of blood in the blood vessels in the skin.

bounding pulse with changes in heart rhythm.

OEDEMA of the legs and arms.

decreasing mobility.

Some patients with COPD have increased ventilation of the alveoli in their lungs, but the levels of oxygen and carbon dioxide are normal so their skin colour is normal. They are, however, breathless so are dubbed ‘pink pu?ers’. Other patients have reduced alveolar ventilation which lowers their oxygen levels causing cyanosis; they also develop COR PULMONALE, a form of heart failure, and become oedematous, so are called ‘blue bloaters’.

Investigations include various tests of lung function, including the patient’s response to bronchodilator drugs. Exercise tests may help, but radiological assessment is not usually of great diagnostic value in the early stages of the disorder.

Treatment depends on how far COPD has progressed. Smoking must be stopped – also an essential preventive step in healthy individuals. Early stages are treated with bronchodilator drugs to relieve breathing symptoms. The next stage is to introduce steroids (given by inhalation). If symptoms worsen, physiotherapy – breathing exercises and postural drainage – is valuable and annual vaccination against INFLUENZA is strongly advised. If the patient develops breathlessness on mild exertion, has cyanosis, wheezing and permanent cough and tends to HYPERVENTILATION, then oxygen therapy should be considered. Antibiotic treatment is necessary if overt infection of the lungs develops.

Complications Sometimes rupture of the pulmonary bullae (thin-walled airspaces produced by the breakdown of the walls of the alveoli) may cause PNEUMOTHORAX and also exert pressure on functioning lung tissue. Respiratory failure and failure of the right side of the heart (which controls blood supply to the lungs), known as cor pulmonale, are late complications in patients whose primary problem is emphysema.

Prognosis This is related to age and to the extent of the patient’s response to bronchodilator drugs. Patients with COPD who develop raised pressure in the heart/lung circulation and subsequent heart failure (cor pulmonale) have a bad prognosis.... chronic obstructive pulmonary disease (copd)

Arrangement of diseases into groups having common characteristics. Useful in efforts to achieve standardization in the methods of presenting mortality and morbidity data from different sources and, therefore, in comparability. May include a systematic numerical notation for each disease entry. Examples include the International Statistical Classification of Diseases, Injuries and Causes of Death.... classification of disease

A rapidly progressive, fatal, degenerative disease in humans caused by an abnormal PRION protein. There are three aetiological forms of CJD: sporadic, IATROGENIC, and inherited. Sporadic CJD occurs randomly in all countries and has an annual incidence of one per million. Iatrogenic CJD is caused by accidental exposure to human prions through medical and surgical procedures (and cannibalism in the case of the human prion disease known as kuru that occurs in a tribe in New Guinea, where it is called the trembling disease). Inherited or familial CJD accounts for 15 per cent of human prion disease and is caused by a MUTATION in the prion protein gene. In recent years a new variant of CJD has been identi?ed that is caused by BOVINE SPONGIFORM ENCEPHALOPATHY (BSE), called variant CJD. The incubation period for the acquired varieties ranges from four years to 40 years, with an average of 10–15 years. The symptoms of CJD are dementia, seizures, focal signs in the central nervous system, MYOCLONUS, and visual disturbances.

Abnormal prion proteins accumulate in the brain and the spinal cord, damaging neurones (see NEURON(E)) and producing small cavities. Diagnosis can be made by tonsil (see TONSILS) biopsy, although work is under way to develop a diagnostic blood test. Abnormal prion proteins are unusually resistant to inactivation by chemicals, heat, X-RAYS or ULTRAVIOLET RAYS (UVR). They are resistant to cellular degradation and can convert normal prion proteins into abnormal forms. Human prion diseases, along with scrapie in sheep and BSE in cattle, belong to a group of disorders known as transmissible spongiform encephalopathies. Abnormal prion proteins can transfer from one animal species to another, and variant CJD has occurred as a result of consumption of meat from cattle infected with BSE.

From 1995 to 1999, a scienti?c study of tonsils and appendixes removed at operation suggested that the prevalence of prion carriage may be as high as 120 per million. It is not known what percentage of these might go on to develop disease.

One precaution is that, since 2003, all surgical instruments used in brain biopsies have had to be quarantined and disposable instruments are now used in tonsillectomy.

Measures have also been introduced to reduce the risk of transmission of CJD from transfusion of blood products.

In the past, CJD has also been acquired from intramuscular injections of human cadaveric pituitary-derived growth hormone and corneal transplantation.

The most common form of CJD remains the sporadic variety, although the eventual incidence of variant CJD may not be known for many years.... creutzfeldt-jakob disease (cjd)

All the measures designed to prevent or reduce as much as possible the incidence, prevalence and consequences of disease, such as the control of disease vectors, the removal or reduction of the influence of predisposing factors in the environment, immunization and curative care.... disease control

The process of identifying and delivering, within selected populations (e.g. people with asthma or diabetes), the most efficient, effective combination of resources, interventions or pharmaceuticals for the treatment or prevention of a disease. Disease management could include team-based care, where medical practitioners and/or other health professionals participate in the delivery and management of care. It also includes the appropriate use of pharmaceuticals.... disease management

See “prevention”.... disease prevention

Diseases may affect the EAR alone or as part of a more generalised condition. The disease may affect the outer, middle or inner ear or a combination of these.

Examination of the ear includes inspection of the external ear. An auriscope is used to examine the external ear canal and the ear drum. If a more detailed inspection is required, a microscope may be used to improve illumination and magni?cation.

Tuning-fork or Rinne tests are performed to identify the presence of DEAFNESS. The examiner tests whether the vibrating fork is audible at the meatus, and then the foot of the fork is placed on the mastoid bone of the ear to discover at which of the two sites the patient can hear the vibrations for the longest time. This can help to di?erentiate between conductive and nerve deafness.

Hearing tests are carried out to determine the level of hearing. An audiometer is used to deliver a series of short tones of varying frequency to the ear, either through a pair of headphones or via a sound transducer applied directly to the skull. The intensity of the sound is gradually reduced until it is no longer heard and this represents the threshold of hearing, at that frequency, through air and bone respectively. It may be necessary to play a masking noise into the opposite ear to prevent that ear from hearing the tones, enabling each ear to be tested independently.

General symptoms The following are some of the chief symptoms of ear disease: DEAFNESS (see DEAFNESS). EARACHE is most commonly due to acute in?ammation of the middle ear. Perceived pain in this region may be referred from other areas, such as the earache commonly experienced after tonsillectomy (removal of the TONSILS) or that caused by carious teeth (see TEETH, DISORDERS OF). The treatment will depend on the underlying cause. TINNITUS or ringing in the ear often accompanies deafness, but is sometimes the only symptom of ear disease. Even normal people sometimes experience tinnitus, particularly if put in soundproofed surroundings. It may be described as hissing, buzzing, the sound of the sea, or of bells. The intensity of the tinnitis usually ?uctuates, sometimes disappearing altogether. It may occur in almost any form of ear disease, but is particularly troublesome in nerve deafness due to ageing and in noise-induced deafness. The symptom seems to originate in the brain’s subcortical regions, high in the central nervous system. It may be a symptom of general diseases such as ANAEMIA, high blood pressure and arterial disease, in which cases it is often synchronous with the pulse, and may also be caused by drugs such as QUININE, salicylates (SALICYLIC ACID and its salts, for example, ASPIRIN) and certain ANTIBIOTICS. Treatment of any underlying ear disorder or systemic disease, including DEPRESSION, may reduce or even cure the tinnitis, but unfortunately in many cases the noises persist. Management involves psychological techniques and initially an explanation of the mechanism and reassurance that tinnitus does not signify brain disease, or an impending STROKE, may help the person. Tinnitus maskers – which look like hearing aids – have long been used with a suitably pitched sound helping to ‘mask’ the condition.

Diseases of the external ear

WAX (cerumen) is produced by specialised glands in the outer part of the ear canal only. Impacted wax within the ear canal can cause deafness, tinnitis and sometimes disturbance of balance. Wax can sometimes be softened with olive oil, 5-per-cent bicarbonate of soda or commercially prepared drops, and it will gradually liquefy and ‘remove itself’. If this is ineffective, syringing by a doctor or nurse will usually remove the wax but sometimes it is necessary for a specialist (otologist) to remove it manually with instruments. Syringing should not be done if perforation of the tympanic membrane (eardrum) is suspected. FOREIGN BODIES such as peas, beads or buttons may be found in the external ear canal, especially in children who have usually introduced them themselves. Live insects may also be trapped in the external canal causing intense irritation and noise, and in such cases spirit drops are ?rst instilled into the ear to kill the insect. Except in foreign bodies of vegetable origin, where swelling and pain may occur, syringing may be used to remove some foreign bodies, but often removal by a specialist using suitable instrumentation and an operating microscope is required. In children, a general anaesthetic may be needed. ACUTE OTITIS EXTERNA may be a di?use in?ammation or a boil (furuncle) occurring in the outer ear canal. The pinna is usually tender on movement (unlike acute otitis media – see below) and a discharge may be present. Initially treatment should be local, using magnesium sulphate paste or glycerine and 10-per-cent ichthaminol. Topical antibiotic drops can be used and sometimes antibiotics by mouth are necessary, especially if infection is acute. Clotrimazole drops are a useful antifungal treatment. Analgesics and locally applied warmth should relieve the pain.

CHRONIC OTITIS EXTERNA producing pain and discharge, can be caused by eczema, seborrhoeic DERMATITIS or PSORIASIS. Hair lotions and cosmetic preparations may trigger local allergic reactions in the external ear, and the chronic disorder may be the result of swimming or use of dirty towels. Careful cleaning of the ear by an ENT (Ear, Nose & Throat) surgeon and topical antibiotic or antifungal agents – along with removal of any precipitating cause – are the usual treatments. TUMOURS of the ear can arise in the skin of the auricle, often as a result of exposure to sunlight, and can be benign or malignant. Within the ear canal itself, the commonest tumours are benign outgrowths from the surrounding bone, said to occur in swimmers as a result of repeated exposure to cold water. Polyps may result from chronic infection of the ear canal and drum, particularly in the presence of a perforation. These polyps are soft and may be large enough to ?ll the ear canal, but may shrink considerably after treatment of the associated infection.

Diseases of the middle ear

OTITIS MEDIA or infection of the middle ear, usually occurs as a result of infection spreading up the Eustachian tubes from the nose, throat or sinuses. It may follow a cold, tonsillitis or sinusitis, and may also be caused by swimming and diving where water and infected secretions are forced up the Eustachian tube into the middle ear. Primarily it is a disease of children, with as many as 1.5 million cases occurring in Britain every year. Pain may be intense and throbbing or sharp in character. The condition is accompanied by deafness, fever and often TINNITUS.

In infants, crying may be the only sign that something is wrong – though this is usually accompanied by some localising manifestation such as rubbing or pulling at the ear. Examination of the ear usually reveals redness, and sometimes bulging, of the ear drum. In the early stages there is no discharge, but in the later stages there may be a discharge from perforation of the ear drum as a result of the pressure created in the middle ear by the accumulated pus. This is usually accompanied by an immediate reduction in pain.

Treatment consists of the immediate administration of an antibiotic, usually one of the penicillins (e.g. amoxicillin). In the majority of cases no further treatment is required, but if this does not quickly bring relief then it may be necessary to perform a myringotomy, or incision of the ear drum, to drain pus from the middle ear. When otitis media is treated immediately with su?cient dosage of the appropriate antibiotic, the chances of any permanent damage to the ear or to hearing are reduced to a negligible degree, as is the risk of any complications such as mastoiditis (discussed later in this section). CHRONIC OTITIS MEDIA WITH EFFUSION or glue ear, is the most common in?ammatory condition of the middle ear in children, to the extent that one in four children in the UK entering school has had an episode of ‘glue ear’. It is characterised by a persistent sticky ?uid in the middle ear (hence the name); this causes a conductive-type deafness. It may be associated with enlarged adenoids (see NOSE, DISORDERS OF) which impair the function of the Eustachian tube. If the hearing impairment is persistent and causes problems, drainage of the ?uid, along with antibiotic treatment, may be needed – possibly in conjunction with removal of the adenoids. The insertion of grommets (ventilation tubes) was for a time standard treatment, but while hearing is often restored, there may be no long-term gain and even a risk of damage to the tympanic membrane, so the operation is less popular than it was a decade or so ago. MASTOIDITIS is a serious complication of in?ammation of the middle ear, the incidence of which has been dramatically reduced by the introduction of antibiotics. In?ammation in this cavity usually arises by direct spread of acute or chronic in?ammation from the middle ear. The signs of this condition include swelling and tenderness of the skin behind the ear, redness and swelling inside the ear, pain in the side of the head, high fever, and a discharge from the ear. The management of this condition in the ?rst instance is with antibiotics, usually given intravenously; however, if the condition fails to improve, surgical treatment is necessary. This involves draining any pus from the middle ear and mastoid, and removing diseased lining and bone from the mastoid.

Diseases of the inner ear

MENIÈRE’S DISEASE is a common idiopathic disorder of ENDOLYMPH control in the semicircular canals (see EAR), characterised by the triad of episodic VERTIGO with deafness and tinnitus. The cause is unknown and usually one ear only is affected at ?rst, but eventually the opposite ear is affected in approximately 50 per cent of cases. The onset of dizziness is often sudden and lasts for up to 24 hours. The hearing loss is temporary in the early stages, but with each attack there may be a progressive nerve deafness. Nausea and vomiting often occur. Treatment during the attacks includes rest and drugs to control sickness. Vasodilator drugs such as betahistine hydrochloride may be helpful. Surgical treatment is sometimes required if crippling attacks of dizziness persist despite these measures. OTOSCLEROSIS A disorder of the middle ear that results in progressive deafness. Often running in families, otosclerosis affects about one person in 200; it customarily occurs early in adult life. An overgrowth of bone ?xes the stapes (the innermost bone of the middle ear) and stops sound vibrations from being transmitted to the inner ear. The result is conductive deafness. The disorder usually affects both ears. Those affected tend to talk quietly and deafness increases over a 10–15 year period. Tinnitus often occurs, and occasionally vertigo.

Abnormal hearing tests point to the diagnosis; the deafness may be partially overcome with a hearing aid but surgery is eventually needed. This involves replacing the stapes bone with a synthetic substitute (stapedectomy). (See also OTIC BAROTRAUMA.)... ear, diseases of

Ebola virus disease is another name for VIRAL HAEMORRHAGIC FEVER. The ebola virus is one of the most virulent micro-organisms known. Like the marburg virus (see MARBURG DISEASE), it belongs to the ?lovirus group which originates in Africa. Increased population mobility and wars have meant that the infection occasionally occurs elsewhere, with air travellers developing symptoms on returning home.

Treatment As the disease can be neither prevented nor cured, treatment is supportive, with strict anti-infection procedures essential as human-to-human transmission can occur via skin and mucous-membrane contacts. Incubation period is 5–10 days. Fever with MYALGIA and headache occur initially, often accompanied by abdominal and chest symptoms. Haemorrhagic symptoms soon develop and the victim either starts to improve in the second week or develops multi-organ failure and lapses into a coma. Mortality ranges from 25 to 90 per cent.... ebola virus disease

See PSYCHOSOMATIC DISEASES.... functional diseases

A disease characterised by abnormal storage of LIPID, particularly in the SPLEEN, central nervous system, BONE MARROW, and LIVER. This results in enlargement of the spleen and the liver – particularly of the former – and ANAEMIA. It runs a chronic course. Diagnosis is usually by skin ?broblast glucocerebrosidase assay. Death often results from PNEUMONIA or bleeding. Infantile Gaucher’s often presents with marked neurological signs of rigid neck DYSPHAGIA, CATATONIA, hyper-re?exia and low IQ. The disease can now be treated with enzyme replacement using alglucerase. The annual cost per patient is substantial – several thousand pounds.... gaucher’s disease

A condition that is a common complication of BONE MARROW transplant (see TRANSPLANTATION). It results from certain LYMPHOCYTES in the transplanted marrow attacking the transplant recipient’s tissues, which they identify as ‘foreign’. GVHD may appear soon after a transplant or develop several months later. The condition, which is fatal in about a third of victims, may be prevented by immunosuppressant drugs such as ciclosporin.... graft versus host disease (gvhd)

The gall-bladder rests on the underside of the LIVER and joins the common hepatic duct via the cystic duct to form the common BILE DUCT. The gall-bladder acts as a reservoir and concentrator of BILE, alterations in the composition of which may result in the formation of gallstones, the most common disease of the gallbladder.

Gall-stones affect 22 per cent of women and 11 per cent of men. The incidence increases with age, but only about 30 per cent of those with gall-stones undergo treatment as the majority of cases are asymptomatic. There are three types of stone: cholesterol, pigment and mixed, depending upon their composition; stones are usually mixed and may contain calcium deposits. The cause of most cases is not clear but sometimes gall-stones will form around a ‘foreign body’ within the bile ducts or gall-bladder, such as suture material. BILIARY COLIC Muscle ?bres in the biliary system contract around a stone in the cystic duct or common bile duct in an attempt to expel it. This causes pain in the right upper quarter of the abdomen, with nausea and occasionally vomiting. JAUNDICE Gall-stones small enough to enter the common bile duct may block the ?ow of bile and cause jaundice. ACUTE CHOLECYSTITIS Blockage of the cystic duct may lead to this. The gall-bladder wall becomes in?amed, resulting in pain in the right upper quarter of the abdomen, fever, and an increase in the white-blood-cell count. There is characteristically tenderness over the tip of the right ninth rib on deep inhalation (Murphy’s sign). Infection of the gall-bladder may accompany the acute in?ammation and occasionally an EMPYEMA of the gall-bladder may result. CHRONIC CHOLECYSTITIS A more insidious form of gall-bladder in?ammation, producing non-speci?c symptoms of abdominal pain, nausea and ?atulence which may be worse after a fatty meal.

Diagnosis Stones are usually diagnosed on the basis of the patient’s reported symptoms, although asymptomatic gall-stones are often an incidental ?nding when investigating another complaint. Con?rmatory investigations include abdominal RADIOGRAPHY – although many gall-stones are not calci?ed and thus do not show up on these images; ULTRASOUND scanning; oral CHOLECYSTOGRAPHY – which entails a patient’s swallowing a substance opaque to X-rays which is concentrated in the gall-bladder; and endoscopic retrograde cholangiopancreatography (ERCP) – a technique in which an ENDOSCOPE is passed into the duodenum and a contrast medium injected into the biliary duct.

Treatment Biliary colic is treated with bed rest and injection of morphine-like analgesics. Once the pain has subsided, the patient may then be referred for further treatment as outlined below. Acute cholecystitis is treated by surgical removal of the gall-bladder. There are two techniques available for this procedure: ?rstly, conventional cholecystectomy, in which the abdomen is opened and the gall-bladder cut out; and, secondly, laparoscopic cholecystectomy, in which ?breoptic instruments called endoscopes (see FIBREOPTIC ENDOSCOPY) are introduced into the abdominal cavity via several small incisions (see MINIMALLY INVASIVE SURGERY (MIS)). Laparoscopic surgery has the advantage of reducing the patient’s recovery time. Gall-stones may be removed during ERCP; they can sometimes be dissolved using ultrasound waves (lithotripsy) or tablet therapy (dissolution chemotherapy). Pigment stones, calci?ed stones or stones larger than 15 mm in diameter are not suitable for this treatment, which is also less likely to succeed in the overweight patient. Drug treatment is prolonged but stones can disappear completely after two years. Stones may re-form on stopping therapy. The drugs used are derivatives of bile salts, particularly chenodeoxycholic acid; side-effects include diarrhoea and liver damage.... gall-bladder, diseases of

See MOUTH, DISEASES OF; TEETH, DISEASES OF.... gums, diseases of

See LEPROSY.... hansen’s disease

A condition in which the whole of the THYROID GLAND is di?usely enlarged and ?rm. It is one of the diseases produced by AUTOIMMUNITY. The enlargement is due to di?use in?ltration of lymphocytes and increase of ?brous tissue. This form of GOITRE appears in middle-aged women, does not give rise to symptoms of thyrotoxicosis (see THYROID GLAND, DISEASES OF – Thyrotoxicosis), and tends to produce myxoedema (see THYROID GLAND, DISEASES OF – Hypothyroidism).... hashimoto’s disease

Heart disease can affect any of the structures of the HEART and may affect more than one at a time. Heart attack is an imprecise term and may refer to ANGINA PECTORIS (a symptom of pain originating in the heart) or to coronary artery thrombosis, also called myocardial infarction.

Arrhythmias An abnormal rate or rhythm of the heartbeat. The reason is a disturbance in the electrical impulses within the heart. Sometimes a person may have an occasional irregular heartbeat: this is called an ECTOPIC beat (or an extrasystole) and does not necessarily mean that an abnormality exists. There are two main types of arrhythmia: bradycardias, where the rate is slow – fewer than 60 beats a minute and sometimes so slow and unpredictable (heartblock) as to cause blackouts or heart failure; and tachycardia, where the rate is fast – more than 100 beats a minute. A common cause of arrhythmia is coronary artery disease, when vessels carrying blood to the heart are narrowed by fatty deposits (ATHEROMA), thus reducing the blood supply and damaging the heart tissue. This condition often causes myocardial infarction after which arrhythmias are quite common and may need correcting by DEFIBRILLATION (application of a short electric shock to the heart). Some tachycardias result from a defect in the electrical conduction system of the heart that is commonly congenital. Various drugs can be used to treat arrhythmias (see ANTIARRHYTHMIC DRUGS). If attacks constantly recur, the arrhythmia may be corrected by electrical removal of dead or diseased tissue that is the cause of the disorder. Heartblock is most e?ectively treated with an arti?cial CARDIAC PACEMAKER, a battery-activated control unit implanted in the chest.

Cardiomyopathy Any disease of the heart muscle that results in weakening of its contractions. The consequence is a fall in the e?ciency of the circulation of blood through the lungs and remainder of the body structures. The myopathy may be due to infection, disordered metabolism, nutritional excess or de?ciency, toxic agents, autoimmune processes, degeneration, or inheritance. Often, however, the cause is not identi?ed. Cardiomyopathies are less common than other types of heart diseases, and the incidence of di?erent types of myopathy (see below) is not known because patients or doctors are sometimes unaware of the presence of the condition.

The three recognised groups of cardiomyopathies are hypertrophic, dilated and restrictive.

•Hypertrophic myopathy, a familial condition, is characterised by great enlargement of the muscle of the heart ventricles. This reduces the muscle’s e?ciency, the ventricles fail to relax properly and do not ?ll suf?ciently during DIASTOLE.

In the dilated type of cardiomyopathy, both ventricles overdilate, impairing the e?ciency of contraction and causing congestion of the lungs.

In the restrictive variety, proper ?lling of the ventricles does not occur because the muscle walls are less elastic than normal. The result is raised pressure in the two atria (upper cavities) of the heart: these dilate and develop FIBRILLATION. Diagnosis can be di?cult and treatment is symptomatic, with a poor prognosis. In suitable patients, heart TRANSPLANTATION may be considered. Disorders of the heart muscle may also be

caused by poisoning – for example, heavy consumption of alcohol. Symptoms include tiredness, palpitations (quicker and sometimes irregular heartbeat), chest pain, di?culty in breathing, and swelling of the legs and hands due to accumulation of ?uid (OEDEMA). The heart is enlarged (as shown on chest X-ray) and ECHOCARDIOGRAPHY shows thickening of the heart muscle. A BIOPSY of heart muscle will show abnormalities in the cells of the heart muscle.

Where the cause of cardiomyopathy is unknown, as is the case with most patients, treatment is symptomatic using DIURETICS to control heart failure and drugs such as DIGOXIN to return the heart rhythm to normal. Patients should stop drinking alcohol. If, as often happens, the patient’s condition slowly deteriorates, heart transplantation should be considered.

Congenital heart disease accounts for 1–2 per cent of all cases of organic heart disease. It may be genetically determined and so inherited; present at birth for no obvious reason; or, in rare cases, related to RUBELLA in the mother. The most common forms are holes in the heart (atrial septal defect, ventricular septal defect – see SEPTAL DEFECT), a patent DUCTUS ARTERIOSUS, and COARCTATION OF THE AORTA. Many complex forms also exist and can be diagnosed in the womb by fetal echocardiography which can lead to elective termination of pregnancy. Surgery to correct many of these abnormalities is feasible, even for the most severe abnormalities, but may only be palliative giving rise to major diffculties of management as the children become older. Heart transplantation is now increasingly employed for the uncorrectable lesions.

Coronary artery disease Also known as ischaemic heart disease, this is a common cause of symptoms and death in the adult population. It may present for the ?rst time as sudden death, but more usually causes ANGINA PECTORIS, myocardial infarction (heart attack) or heart failure. It can also lead to a disturbance of heart rhythm. Factors associated with an increased risk of developing coronary artery disease include diabetes, cigarette smoking, high blood pressure, obesity, and a raised concentration of cholesterol in the blood. Older males are most affected.

Coronary thrombosis or acute myocardial infarction is the acute, dramatic manifestation of coronary-artery ischaemic heart disease – one of the major killing diseases of western civilisation. In 1999, ischaemic heart disease was responsible for about 115,000 deaths in England and Wales, compared with 153,000 deaths in 1988. In 1999 more than 55,600 people died of coronary thrombosis. The underlying cause is disease of the coronary arteries which carry the blood supply to the heart muscle (or myocardium). This results in narrowing of the arteries until ?nally they are unable to transport su?cient blood for the myocardium to function e?ciently. One of three things may happen. If the narrowing of the coronary arteries occurs gradually, then the individual concerned will develop either angina pectoris or signs of a failing heart: irregular rhythm, breathlessness, CYANOSIS and oedema.

If the narrowing occurs suddenly or leads to complete blockage (occlusion) of a major branch of one of the coronary arteries, then the victim collapses with acute pain and distress. This is the condition commonly referred to as a coronary thrombosis because it is usually due to the affected artery suddenly becoming completely blocked by THROMBOSIS. More correctly, it should be described as coronary occlusion, because the ?nal occluding factor need not necessarily be thrombosis.

Causes The precise cause is not known, but a wide range of factors play a part in inducing coronary artery disease. Heredity is an important factor. The condition is more common in men than in women; it is also more common in those in sedentary occupations than in those who lead a more physically active life, and more likely to occur in those with high blood pressure than in those with normal blood pressure (see HYPERTENSION). Obesity is a contributory factor. The disease is more common among smokers than non-smokers; it is also often associated with a high level of CHOLESTEROL in the blood, which in turn has been linked with an excessive consumption of animal, as opposed to vegetable, fats. In this connection the important factors seem to be the saturated fatty acids (low-density and very low-density lipoproteins [LDLs and VLDLs] – see CHOLESTEROL) of animal fats which would appear to be more likely to lead to a high level of cholesterol in the blood than the unsaturated fatty acids of vegetable fats. As more research on the subject is carried out, the arguments continue about the relative in?uence of the di?erent factors. (For advice on prevention of the disease, see APPENDIX 2: ADDRESSES: SOURCES OF INFORMATION, ADVICE, SUPPORT AND SELFHELP.)

Symptoms The presenting symptom is the sudden onset, often at rest, of acute, agonising pain in the front of the chest. This rapidly radiates all over the front of the chest and often down over the abdomen. The pain is frequently accompanied by nausea and vomiting, so that suspicion may be aroused of some acute abdominal condition such as biliary colic (see GALLBLADDER, DISEASES OF) or a perforated PEPTIC ULCER. The victim soon goes into SHOCK, with a pale, cold, sweating skin, rapid pulse and dif?culty in breathing. There is usually some rise in temperature.

Treatment is immediate relief of the pain by injections of diamorphine. Thrombolytic drugs should be given as soon as possible (‘rapid door to needle time’) and ARRHYTHMIA corrected. OXYGEN is essential and oral ASPIRIN is valuable. Treatment within the ?rst hour makes a great di?erence to recovery. Subsequent treatment includes the continued administration of drugs to relieve the pain; the administration of ANTIARRHYTHMIC DRUGS that may be necessary to deal with the heart failure that commonly develops, and the irregular action of the heart that quite often develops; and the continued administration of oxygen. Patients are usually admitted to coronary care units, where they receive constant supervision. Such units maintain an emergency, skilled, round-the-clock sta? of doctors and nurses, as well as all the necessary resuscitation facilities that may be required.

The outcome varies considerably. The ?rst (golden) hour is when the patient is at greatest risk of death: if he or she is treated, then there is a 50 per cent reduction in mortality compared with waiting until hospital admission. As each day passes the prognosis improves with a ?rst coronary thrombosis, provided that the patient does not have a high blood pressure and is not overweight. Following recovery, there should be a gradual return to work, care being taken to avoid any increase in weight, unnecessary stress and strain, and to observe moderation in all things. Smoking must stop. In uncomplicated cases patients get up and about as soon as possible, most being in hospital for a week to ten days and back at work in three months or sooner.

Valvular heart disease primarily affects the mitral and aortic valves which can become narrowed (stenosis) or leaking (incompetence). Pulmonary valve problems are usually congenital (stenosis) and the tricuspid valve is sometimes involved when rheumatic heart disease primarily affects the mitral or aortic valves. RHEUMATIC FEVER, usually in childhood, remains a common cause of chronic valvular heart disease causing stenosis, incompetence or both of the aortic and mitral valves, but each valve has other separate causes for malfunction.

Aortic valve disease is more common with increasing age. When the valve is narrowed, the heart hypertrophies and may later fail. Symptoms of angina or breathlessness are common and dizziness or blackouts (syncope) also occur. Replacing the valve is a very e?ective treatment, even with advancing age. Aortic stenosis may be caused by degeneration (senile calci?c), by the inheritance of two valvular leaflets instead of the usual three (bicuspid valve), or by rheumatic fever. Aortic incompetence again leads to hypertrophy, but dilatation is more common as blood leaks back into the ventricle. Breathlessness is the more common complaint. The causes are the same as stenosis but also include in?ammatory conditions such as SYPHILIS or ANKYLOSING SPONDYLITIS and other disorders of connective tissue. The valve may also leak if the aorta dilates, stretching the valve ring as with HYPERTENSION, aortic ANEURYSM and MARFAN’S SYNDROME – an inherited disorder of connective tissue that causes heart defects. Infection (endocarditis) can worsen acutely or chronically destroy the valve and sometimes lead to abnormal outgrowths on the valve (vegetations) which may break free and cause devastating damage such as a stroke or blocked circulation to the bowel or leg.

Mitral valve disease leading to stenosis is rheumatic in origin. Mitral incompetence may be rheumatic but in the absence of stenosis can be due to ISCHAEMIA, INFARCTION, in?ammation, infection and a congenital weakness (prolapse). The valve may also leak if stretched by a dilating ventricle (functional incompetence). Infection (endocarditis) may affect the valve in a similar way to aortic disease. Mitral symptoms are predominantly breathlessness which may lead to wheezing or waking at night breathless and needing to sit up or stand for relief. They are made worse when the heart rhythm changes (atrial ?brillation) which is frequent as the disease becomes more severe. This leads to a loss of e?ciency of up to 25 per cent and a predisposition to clot formation as blood stagnates rather than leaves the heart e?ciently. Mitral incompetence may remain mild and be of no trouble for many years, but infection must be guarded against (endocarditis prophylaxis).

Endocarditis is an infection of the heart which may acutely destroy a valve or may lead to chronic destruction. Bacteria settle usually on a mild lesion. Antibiotics taken at vulnerable times can prevent this (antibiotic prophylaxis) – for example, before tooth extraction. If established, lengthy intravenous antibiotic therapy is needed and surgery is often necessary. The mortality is 30 per cent but may be higher if the infection settles on a replaced valve (prosthetic endocarditis). Complications include heart failure, shock, embolisation (generation of small clots in the blood), and cerebral (mental) confusion.

PERICARDITIS is an in?ammation of the sac covering the outside of the heart. The sac becomes roughened and pain occurs as the heart and sac rub together. This is heard by stethoscope as a scratching noise (pericardial rub). Fever is often present and a virus the main cause. It may also occur with rheumatic fever, kidney failure, TUBERCULOSIS or from an adjacent lung problem such as PNEUMONIA or cancer. The in?ammation may cause ?uid to accumulate between the sac and the heart (e?usion) which may compress the heart causing a fall in blood pressure, a weak pulse and circulatory failure (tamponade). This can be relieved by aspirating the ?uid. The treatment is then directed at the underlying cause.... heart, diseases of

Hirschsprung’s disease, or MEGACOLON, is a rare congenital disorder characterised by great hypertrophy and dilatation of the colon (see INTESTINE). The RECTUM and lower colon have failed to develop a normal nerve network, thus disturbing normal contraction and expansion of these structures. Treatment is surgical removal of the affected sections, with the remaining colon being joined to the anus.... hirschsprung’s disease

See LYMPHOMA.... hodgkin’s disease

See OCCUPATIONAL HEALTH, MEDICINE AND DISEASES.... industrial diseases

CROHN’S DISEASE and ULCERATIVE COLITIS are chronic in?ammatory diseases characterised by relapsing and remitting episodes over many years. The diseases are similar and are both classi?ed as IBD, but a signi?cant distinction is that Crohn’s disease can affect any part of the GASTROINTESTINAL TRACT from mouth to anus, whereas ulcerative colitis affects only the COLON. The incidence of IBD varies widely between countries, being rare in the developing world but much more common in westernised nations, where the incidence of Crohn’s disease is around 5–7 per 100,000 (and rising) and that of ulcerative colitis at a broadly stable 10 per 100,000. It is common for both disorders to develop in young adults, but there is a second spike of incidence in people in their 70s. Details about the two disorders are given under the individual entries elsewhere in the dictionary. In?ammatory bowel disease should not be confused with IRRITABLE BOWEL SYNDROME (IBS) which has some of the same symptoms of IBD but a di?erent cause and outcome.... inflammatory bowel disease (ibd)

A World Health Organisation classi?cation of all known diseases and syndromes. The diseases are divided according to system (respiratory, renal, cardiac, etc.) or type (accidents, malignant growth, etc.). Each of them is given a three-digit number to facilitate computerisation. This classi?cation allows mortality and morbidity rates to be compared nationally and regionally. A revised ICD is published every ten years; a similar classi?cation is being developed for impairments, disabilities and handicaps.... international classification of disease (icd)

A list of diagnoses and identifying codes used by medical practitioners and other health care providers. The coding and terminology provide a uniform language that permits consistent communication on claim forms. Data from earlier time periods were coded using the appropriate revision of the ICD for that time period. Changes in classification of causes of death in successive revisions of the ICD may introduce discontinuities in cause of death statistics over time.... international statistical classification of diseases and related health problems, tenth revision (icd-10)

See HEART, DISEASES OF.... ischaemic heart disease

Diseases affecting the kidneys can be broadly classi?ed into congenital and genetic disorders; autoimmune disorders; malfunctions caused by impaired blood supply; infections; metabolic disorders; and tumours of the kidney. Outside factors may cause functional disturbances – for example, obstruction in the urinary tract preventing normal urinary ?ow may result in hydronephrosis (see below), and the CRUSH SYNDROME, which releases proteins into the blood as a result of seriously damaged muscles (rhabdomyolosis), can result in impaired kidney function. Another outside factor, medicinal drugs, can also be hazardous to the kidney. Large quantities of ANALGESICS taken over a long time damage the kidneys and acute tubular NECROSIS can result from certain antibiotics.

K

Diagram of glomerulus (Malpighian corpuscle).

Fortunately the body has two kidneys and, as most people can survive on one, there is a good ‘functional reserve’ of kidney tissue.

Symptoms Many patients with kidney disorders do not have any symptoms, even when the condition is quite advanced. However,

others experience loin pain associated with obstruction (renal colic) or due to infection; fevers; swelling (oedema), usually of the legs but occasionally including the face and arms; blood in the urine (haematuria); and excess quantities of urine (polyuria), including at night (nocturia), due to failure of normal mechanisms in the kidney for concentrating urine. Patients with chronic renal failure often have very di?use symptoms including nausea and vomiting, tiredness due to ANAEMIA, shortness of breath, skin irritation, pins and needles (paraesthesia) due to damage of the peripheral nerves (peripheral neuropathy), and eventually (rarely seen nowadays) clouding of consciousness and death.

Signs of kidney disease include loin tenderness, enlarged kidneys, signs of ?uid retention, high blood pressure and, in patients with end-stage renal failure, pallor, pigmentation and a variety of neurological signs including absent re?exes, reduced sensation, and a coarse ?apping tremor (asterixis) due to severe disturbance of the body’s normal metabolism.

Renal failure Serious kidney disease may lead to impairment or failure of the kidney’s ability to ?lter waste products from the blood and excrete them in the urine – a process that controls the body’s water and salt balance and helps to maintain a stable blood pressure. Failure of this process causes URAEMIA – an increase in urea and other metabolic waste products – as well as other metabolic upsets in the blood and tissues, all of which produce varying symptoms. Failure can be sudden or develop more slowly (chronic). In the former, function usually returns to normal once the underlying cause has been treated. Chronic failure, however, usually irreparably reduces or stops normal function.

Acute failure commonly results from physiological shock following a bad injury or major illness. Serious bleeding or burns can reduce blood volume and pressure to the point where blood-supply to the kidney is greatly reduced. Acute myocardial infarction (see HEART, DISEASES OF) or pancreatitis (see PANCREAS, DISORDERS OF) may produce a similar result. A mismatched blood transfusion can produce acute failure. Obstruction to the urine-?ow by a stone (calculus) in the urinary tract, a bladder tumour or an enlarged prostate can also cause acute renal failure, as can glomerulonephritis (see below) and the haemolytic-uraemia syndrome.

HYPERTENSION, DIABETES MELLITUS, polycystic kidney disease (see below) or AMYLOIDOSIS are among conditions that cause chronic renal failure. Others include stone, tumour, prostatic enlargement and overuse of analgesic drugs. Chronic failure may eventually lead to end-stage renal failure, a life-threatening situation that will need DIALYSIS or a renal transplant (see TRANSPLANTATION).

Familial renal disorders include autosomal dominant inherited polycystic kidney disease and sex-linked familial nephropathy. Polycystic kidney disease is an important cause of renal failure in the UK. Patients, usually aged 30–50, present with HAEMATURIA, loin or abdominal discomfort or, rarely, urinary-tract infection, hypertension and enlarged kidneys. Diagnosis is based on ultrasound examination of the abdomen. Complications include renal failure, hepatic cysts and, rarely, SUBARACHNOID HAEMORRHAGE. No speci?c treatment is available. Familial nephropathy occurs more often in boys than in girls and commonly presents as Alport’s syndrome (familial nephritis with nerve DEAFNESS) with PROTEINURIA, haematuria, progressing to renal failure and deafness. The cause of the disease lies in an absence of a speci?c ANTIGEN in a part of the glomerulus. The treatment is conservative, with most patients eventually requiring dialysis or transplantation.

Acute glomerulonephritis is an immune-complex disorder due to entrapment within glomerular capillaries of ANTIGEN (usually derived from B haemolytic streptococci – see STREPTOCOCCUS) antibody complexes initiating an acute in?ammatory response (see IMMUNITY). The disease affects children and young adults, and classically presents with a sore throat followed two weeks later by a fall in urine output (oliguria), haematuria, hypertension and mildly abnormal renal function. The disease is self-limiting with 90 per cent of patients spontaneously recovering. Treatment consists of control of blood pressure, reduced ?uid and salt intake, and occasional DIURETICS and ANTIBIOTICS.

Chronic glomerulonephritis is also due to immunological renal problems and is also classi?ed by taking a renal biopsy. It may be subdivided into various histological varieties as determined by renal biospy. Proteinuria of various degrees is present in all these conditions but the clinical presentations vary, as do their treatments. Some resolve spontaneously; others are treated with steroids or even the cytotoxic drug CYCLOPHOSPHAMIDE or the immunosuppressant cyclosporin. Prognoses are generally satisfactory but some patients may require renal dialysis or kidney transplantation – an operation with a good success rate.

Hydronephrosis A chronic disease in which the kidney becomes greatly distended with ?uid. It is caused by obstruction to the ?ow of urine at the pelvi-ureteric junction (see KIDNEYS – Structure). If the ureter is obstructed, the ureter proximal to the obstruction will dilate and pressure will be transmitted back to the kidney to cause hydronephrosis. Obstruction may occur at the bladder neck or in the urethra itself. Enlargement of the prostate is a common cause of bladder-neck obstruction; this would give rise to hypertrophy of the bladder muscle and both dilatation of the ureter and hydronephrosis. If the obstruction is not relieved, progressive destruction of renal tissue will occur. As a result of the stagnation of the urine, infection is probable and CYSTITIS and PYELONEPHRITIS may occur.

Impaired blood supply may be the outcome of diabetes mellitus and physiological shock, which lowers the blood pressure, also affecting the blood supply. The result can be acute tubular necrosis. POLYARTERITIS NODOSA and SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) may damage the large blood vessels in the kidney. Treatment is of the underlying condition.

Infection of the kidney is called pyelonephritis, a key predisposing factor being obstruction of urine ?ow through the urinary tract. This causes stagnation and provides a fertile ground for bacterial growth. Acute pyelonephritis is more common in women, especially during pregnancy when bladder infection (CYSTITIS) spreads up the ureters to the kidney. Symptoms are fever, malaise and backache. Antibiotics and high ?uid intake are the most e?ective treatment. Chronic pyelonephritis may start in childhood as a result of congenital deformities that permit urine to ?ow up from the bladder to the kidney (re?ux). Persistent re?ux leads to recurrent infections causing permanent damage to the kidney. Specialist investigations are usually required as possible complications include hypertension and kidney failure.

Tumours of the kidney are fortunately rare. Non-malignant ones commonly do not cause symptoms, and even malignant tumours (renal cell carcinoma) may be asymptomatic for many years. As soon as symptoms appear – haematuria, back pain, nausea, malaise, sometimes secondary growths in the lungs, bones or liver, and weight loss – urgent treatment including surgery, radiotherapy and chemotherapy is necessary. This cancer occurs mostly in adults over 40 and has a hereditary element. The prognosis is not good unless diagnosed early. In young children a rare cancer called nephroblastoma (Wilm’s tumour) can occur; treatment is with surgery, radiotherapy and chemotherapy. It may grow to a substantial size before being diagnosed.

Cystinuria is an inherited metabolic defect in the renal tubular reabsorption of cystine, ornithine, lysine and arginine. Cystine precipitates in an alkaline urine to form cystine stones. Triple phosphate stones are associated with infection and may develop into a very large branching calculi (staghorn calculi). Stones present as renal or ureteric pain, or as an infection. Treatment has undergone considerable change with the introduction of MINIMALLY INVASIVE SURGERY (MIS) and the destruction of stone by sound waves (LITHOTRIPSY).... kidneys, diseases of

A hereditary disease in which blindness comes on at about the age of 20.... leber’s disease

A form of CEREBRAL PALSY.... little’s disease

See BREASTS, DISEASES OF.... nipples, diseases of

The principal signs of trouble which has its origin in the intestine consist of pain somewhere about the abdomen, sometimes vomiting, and irregular bowel movements: constipation, diarrhoea or alternating bouts of these.

Several diseases and conditions are treated under separate headings. (See APPENDICITIS; CHOLERA; COLITIS; CONSTIPATION; CROHN’S DISEASE; DIARRHOEA; DYSENTERY; ENTERIC FEVER; HAEMORRHOIDS; HERNIA; INFLAMMATORY BOWEL DISEASE (IBD); ILEITIS; INTUSSUSCEPTION; IRRITABLE BOWEL SYNDROME (IBS); PERITONITIS; RECTUM, DISEASES OF; ULCERATIVE COLITIS.)

In?ammation of the outer surface is called peritonitis, a serious disease. That of the inner surface is known generally as enteritis, in?ammation of special parts receiving the names of colitis, appendicitis, irritable bowel syndrome (IBS) and in?ammatory bowel disease (IBD). Enteritis may form the chief symptom of certain infective diseases: for example in typhoid fever (see ENTERIC FEVER), cholera and dysentery. It may be acute, although not connected with any de?nite organism, when, if severe, it is a very serious condition, particularly in young children. Or it may be chronic, especially as the result of dysentery, and then constitutes a less serious if very troublesome complaint.

Perforation of the bowel may take place as the result either of injury or of disease. Stabs and other wounds which penetrate the abdomen may damage the bowel, and severe blows or crushes may tear it without any external wound. Ulceration, as in typhoid fever, or, more rarely, in TUBERCULOSIS, may cause an opening in the bowel-wall also. Again, when the bowel is greatly distended above an obstruction, faecal material may accumulate and produce ulcers, which rupture with the ordinary movements of the bowels. Whatever the cause, the symptoms are much the same.

Symptoms The contents of the bowel pass out through the perforation into the peritoneal cavity, and set up a general peritonitis. In consequence, the abdomen is painful, and after a few hours becomes extremely tender to the touch. The abdomen swells, particularly in its upper part, owing to gas having passed also into the cavity. Fever and vomiting develop and the person passes into a state of circulatory collapse or SHOCK. Such a condition may be fatal if not properly treated.

Treatment All food should be withheld and the patient given intravenous ?uids to resuscitate them and then to maintain their hydration and electrolyte balance. An operation is urgently necessary, the abdomen being opened in the middle line, the perforated portion of bowel found, the perforation stitched up, and appropriate antibiotics given.

Obstruction means a stoppage to the passage down the intestine of partially digested food. Obstruction may be acute, when it comes on suddenly with intense symptoms; or it may be chronic, when the obstructing cause gradually increases and the bowel becomes slowly more narrow until it closes altogether; or subacute, when obstruction comes and goes until it ends in an acute attack. In chronic cases the symptoms are milder in degree and more prolonged.

Causes Obstruction may be due to causes outside the bowel altogether, for example, the pressure of tumours in neighbouring organs, the twisting around the bowel of bands produced by former peritonitis, or even the twisting of a coil of intestine around itself so as to cause a kink in its wall. Chronic causes of the obstruction may exist in the wall of the bowel itself: for example, a tumour, or the contracting scar of an old ulcer. The condition of INTUSSUSCEPTION, where part of the bowel passes inside of the part beneath it, in the same way as one turns the ?nger of a glove outside in, causes obstruction and other symptoms. Bowel within a hernia may become obstructed when the hernia strangulates. Finally some body, such as a concretion, or the stone of some large fruit, or even a mass of hardened faeces, may become jammed within the bowel and stop up its passage.

Symptoms There are four chief symptoms: pain, vomiting, constipation and swelling of the abdomen.

Treatment As a rule the surgeon opens the abdomen, ?nds the obstruction and relieves it or if possible removes it altogether. It may be necessary to form a COLOSTOMY or ILEOSTOMY as a temporary or permanent measure in severe cases.

Tumours are rare in the small intestine and usually benign. They are relatively common in the large intestine and are usually cancerous. The most common site is the rectum. Cancer of the intestine is a disease of older people; it is the second most common cancer (after breast cancer) in women in the United Kingdom, and the third most common (after lung and prostate) in men. Around 25,000 cases of cancer of the large intestine occur in the UK annually, about 65 per cent of which are in the colon. A history of altered bowel habit, in the form of increasing constipation or diarrhoea, or an alternation of these, or of bleeding from the anus, in a middle-aged person is an indication for taking medical advice. If the condition is cancer, then the sooner it is investigated and treated, the better the result.... intestine, diseases of

Occupational health The e?ect of work on human health, and the impact of workers’ health on their work. Although the term encompasses the identi?cation and treatment of speci?c occupational diseases, occupational health is also an applied and multidisciplinary subject concerned with the prevention of occupational ill-health caused by chemical, biological, physical and psychosocial factors, and the promotion of a healthy and productive workforce.

Occupational health includes both mental and physical health. It is about compliance with health-and-safety-at-work legislation (and common law duties) and about best practice in providing work environments that reduce risks to health and safety to lowest practicable levels. It includes workers’ ?tness to work, as well as the management of the work environment to accommodate people with disabilities, and procedures to facilitate the return to work of those absent with long-term illness. Occupational health incorporates several professional groups, including occupational physicians, occupational health nurses, occupational hygienists, ergonomists, disability managers, workplace counsellors, health-and-safety practitioners, and workplace physiotherapists.

In the UK, two key statutes provide a framework for occupational health: the Health and Safety at Work, etc. Act 1974 (HSW Act); and the Disability Discrimination Act 1995 (DDA). The HSW Act states that employers have a duty to protect the health, safety and welfare of their employees and to conduct their business in a way that does not expose others to risks to their health and safety. Employees and self-employed people also have duties under the Act. Modern health-and-safety legislation focuses on assessing and controlling risk rather than prescribing speci?c actions in di?erent industrial settings. Various regulations made under the HSW Act, such as the Control of Substances Hazardous to Health Regulations, the Manual Handling Operations Regulations and the Noise at Work Regulations, set out duties with regard to di?erent risks, but apply to all employers and follow the general principles of risk assessment and control. Risks should be controlled principally by removing or reducing the hazard at source (for example, by substituting chemicals with safer alternatives, replacing noisy machinery, or automating tasks to avoid heavy lifting). Personal protective equipment, such as gloves and ear defenders, should be seen as a last line of defence after other control measures have been put in place.

The employment provisions of the DDA require employers to avoid discriminatory practice towards disabled people and to make reasonable adjustments to working arrangements where a disabled person is placed at a substantial disadvantage to a non-disabled person. Although the DDA does not require employers to provide access to rehabilitation services – even for those injured or made ill at work – occupational-health practitioners may become involved in programmes to help people get back to work after injury or long-term illness, and many businesses see the retention of valuable sta? as an attractive alternative to medical retirement or dismissal on health grounds.

Although a major part of occupational-health practice is concerned with statutory compliance, the workplace is also an important venue for health promotion. Many working people rarely see their general practitioner and, even when they do, there is little time to discuss wider health issues. Occupational-health advisers can ?ll in this gap by providing, for example, workplace initiatives on stopping smoking, cardiovascular health, diet and self-examination for breast and testicular cancers. Such initiatives are encouraged because of the perceived bene?ts to sta?, to the employing organisation and to the wider public-health agenda. Occupational psychologists recognise the need for the working population to achieve a ‘work-life balance’ and the promotion of this is an increasing part of occupational health strategies.

The law requires employers to consult with their sta? on health-and-safety matters. However, there is also a growing understanding that successful occupational-health management involves workers directly in the identi?cation of risks and in developing solutions in the workplace. Trade unions play an active role in promoting occupational health through local and national campaigns and by training and advising elected workplace safety representatives.

Occupational medicine The branch of medicine that deals with the control, prevention, diagnosis, treatment and management of ill-health and injuries caused or made worse by work, and with ensuring that workers are ?t for the work they do.

Occupational medicine includes: statutory surveillance of workers’ exposure to hazardous agents; advice to employers and employees on eliminating or reducing risks to health and safety at work; diagnosis and treatment/management of occupational illness; advice on adapting the working environment to suit the worker, particularly those with disabilities or long-term health problems; and advice on the return to work and, if necessary, rehabilitation of workers absent through illness. Occupational physicians may play a wider role in monitoring the health of workplace populations and in advising employers on controlling health hazards where ill-health trends are observed. They may also conduct epidemiological research (see EPIDEMIOLOGY) on workplace diseases.

Because of the occupational physician’s dual role as adviser to both employer and employee, he or she is required to be particularly diligent with regards to the individual worker’s medical CONFIDENTIALITY. Occupational physicians need to recognise in any given situation the context they are working in, and to make sure that all parties are aware of this.

Occupational medicine is a medical discipline and thus is only part of the broader ?eld of occupational health. Although there are some speci?c clinical duties associated with occupational medicine, such as diagnosis of occupational disease and medical screening, occupational physicians are frequently part of a multidisciplinary team that might include, for example, occupational-health nurses, healthand-safety advisers, ergonomists, counsellors and hygienists. Occupational physicians are medical practitioners with a post-registration quali?cation in occupational medicine. They will have completed a period of supervised in-post training. In the UK, the Faculty of Occupational Medicine of the Royal College of Physicians has three categories of membership, depending on quali?cations and experience: associateship (AFOM); membership (MFOM); and fellowship (FFOM).

Occupational diseases Occupational diseases are illnesses that are caused or made worse by work. In their widest sense, they include physical and mental ill-health conditions.

In diagnosing an occupational disease, the clinician will need to examine not just the signs and symptoms of ill-health, but also the occupational history of the patient. This is important not only in discovering the cause, or causes, of the disease (work may be one of a number of factors), but also in making recommendations on how the work should be modi?ed to prevent a recurrence – or, if necessary, in deciding whether or not the worker is able to return to that type of work. The occupational history will help in deciding whether or not other workers are also at risk of developing the condition. It will include information on:

the nature of the work.

how the tasks are performed in practice.

the likelihood of exposure to hazardous agents (physical, chemical, biological and psychosocial).

what control measures are in place and the extent to which these are adhered to.

previous occupational and non-occupational exposures.

whether or not others have reported similar symptoms in relation to the work. Some conditions – certain skin conditions,

for example – may show a close relationship to work, with symptoms appearing directly only after exposure to particular agents or possibly disappearing at weekends or with time away from work. Others, however, may be chronic and can have serious long-term implications for a person’s future health and employment.

Statistical information on the prevalence of occupational disease in the UK comes from a variety of sources, including o?cial ?gures from the Industrial Injuries Scheme (see below) and statutory reporting of occupational disease (also below). Neither of these o?cial schemes provides a representative picture, because the former is restricted to certain prescribed conditions and occupations, and the latter suffers from gross under-reporting. More useful are data from the various schemes that make up the Occupational Diseases Intelligence Network (ODIN) and from the Labour Force Survey (LFS). ODIN data is generated by the systematic reporting of work-related conditions by clinicians and includes several schemes. Under one scheme, more than 80 per cent of all reported diseases by occupational-health physicians fall into just six of the 42 clinical disease categories: upper-limb disorders; anxiety, depression and stress disorders; contact DERMATITIS; lower-back problems; hearing loss (see DEAFNESS); and ASTHMA. Information from the LFS yields a similar pattern in terms of disease frequency. Its most recent survey found that over 2 million people believed that, in the previous 12 months, they had suffered from an illness caused or made worse by work and that

19.5 million working days were lost as a result. The ten most frequently reported disease categories were:

stress and mental ill-health (see MENTAL ILLNESS): 515,000 cases.

back injuries: 508,000.

upper-limb and neck disorders: 375,000.

lower respiratory disease: 202,000.

deafness, TINNITUS or other ear conditions: 170,000.

lower-limb musculoskeletal conditions: 100,000.

skin disease: 66,000.

headache or ‘eyestrain’: 50,000.

traumatic injury (includes wounds and fractures from violent attacks at work): 34,000.

vibration white ?nger (hand-arm vibration syndrome): 36,000. A person who develops a chronic occu

pational disease may be able to sue his or her employer for damages if it can be shown that the employer was negligent in failing to take reasonable care of its employees, or had failed to provide a system of work that would have prevented harmful exposure to a known health hazard. There have been numerous successful claims (either awarded in court, or settled out of court) for damages for back and other musculoskeletal injuries, hand-arm vibration syndrome, noise-induced deafness, asthma, dermatitis, MESOTHELIOMA and ASBESTOSIS. Employers’ liability (workers’ compensation) insurers are predicting that the biggest future rise in damages claims will be for stress-related illness. In a recent study, funded by the Health and Safety Executive, about 20 per cent of all workers – more than 5 million people in the UK – claimed to be ‘very’ or ‘extremely’ stressed at work – a statistic that is likely to have a major impact on the long-term health of the working population.

While victims of occupational disease have the right to sue their employers for damages, many countries also operate a system of no-fault compensation for the victims of prescribed occupational diseases. In the UK, more than 60 diseases are prescribed under the Industrial Injuries Scheme and a person will automatically be entitled to state compensation for disability connected to one of these conditions, provided that he or she works in one of the occupations for which they are prescribed. The following short list gives an indication of the types of diseases and occupations prescribed under the scheme:

CARPAL TUNNEL SYNDROME connected to the use of hand-held vibrating tools.

hearing loss from (amongst others) use of pneumatic percussive tools and chainsaws, working in the vicinity of textile manufacturing or woodworking machines, and work in ships’ engine rooms.

LEPTOSPIROSIS – infection with Leptospira (various listed occupations).

viral HEPATITIS from contact with human blood, blood products or other sources of viral hepatitis.

LEAD POISONING, from any occupation causing exposure to fumes, dust and vapour from lead or lead products.

asthma caused by exposure to, among other listed substances, isocyanates, curing agents, solder ?ux fumes and insects reared for research.

mesothelioma from exposure to asbestos.

In the UK, employers and the self-employed have a duty to report all occupational injuries (if the employee is o? work for three days or more as a result), diseases or dangerous incidents to the relevant enforcing authority (the Health and Safety Executive or local-authority environmental-health department) under the Reporting of Injuries, Diseases and Dangerous Occurrences Regulations 1995 (RIDDOR). Despite this statutory duty, comparatively few diseases are reported so that ?gures generated from RIDDOR reports do not give a useful indication of the scale of occupational diseases in the UK. The statutory reporting of injuries is much better, presumably because of the clear and acute relationship between a workplace accident and the resultant injury. More than 160,000 injuries are reported under RIDDOR every year compared with just 2,500 or so occupational diseases, a gross underestimate of the true ?gure.

There are no precise ?gures for the number of people who die prematurely because of work-related ill-health, and it would be impossible to gauge the exact contribution that work has on, for example, cardiovascular disease and cancers where the causes are multifactorial. The toll would, however, dwarf the number of deaths caused by accidents at work. Around 250 people are killed by accidents at work in the UK each year – mesothelioma, from exposure to asbestos at work, alone kills more than 1,300 people annually.

The following is a sample list of occupational diseases, with brief descriptions of their aetiologies.

Inhaled materials

PNEUMOCONIOSIS covers a group of diseases which cause ?brotic lung disease following the inhalation of dust. Around 250–300 new cases receive bene?t each year – mostly due to coal dust with or without silica contamination. SILICOSIS is the more severe disease. The contraction in the size of the coal-mining industry as well as improved dust suppression in the mines have diminished the importance of this disease, whereas asbestos-related diseases now exceed 1,000 per year. Asbestos ?bres cause a restrictive lung disease but also are responsible for certain malignant conditions such as pleural and peritoneal mesothelioma and lung cancer. The lung-cancer risk is exacerbated by cigarette-smoking.

Even though the use of asbestos is virtually banned in the UK, many workers remain at risk of exposure because of the vast quantities present in buildings (much of which is not listed in building plans). Carpenters, electricians, plumbers, builders and demolition workers are all liable to exposure from work that disturbs existing asbestos. OCCUPATIONAL ASTHMA is of increasing importance – not only because of the recognition of new allergic agents (see ALLERGY), but also in the number of reported cases. The following eight substances are most frequently linked to occupational asthma (key occupations in brackets): isocyanates (spray painters, electrical processors); ?our and grain (bakers and farmers); wood dust (wood workers); glutaraldehyde (nurses, darkroom technicians); solder/colophony (welders, electronic assembly workers); laboratory animals (technicians, scientists); resins and glues (metal and electrical workers, construction, chemical processors); and latex (nurses, auxiliaries, laboratory technicians).

The disease develops after a short, symptomless period of exposure; symptoms are temporally related to work exposures and relieved by absences from work. Removal of the worker from exposure does not necessarily lead to complete cessation of symptoms. For many agents, there is no relationship with a previous history of ATOPY. Occupational asthma accounts for about 10 per cent of all asthma cases. DERMATITIS The risk of dermatitis caused by an allergic or irritant reaction to substances used or handled at work is present in a wide variety of jobs. About three-quarters of cases are irritant contact dermatitis due to such agents as acids, alkalis and solvents. Allergic contact dermatitis is a more speci?c response by susceptible individuals to a range of allergens (see ALLERGEN). The main occupational contact allergens include chromates, nickel, epoxy resins, rubber additives, germicidal agents, dyes, topical anaesthetics and antibiotics as well as certain plants and woods. Latex gloves are a particular cause of occupational dermatitis among health-care and laboratory sta? and have resulted in many workers being forced to leave their profession through ill-health. (See also SKIN, DISEASES OF.)

Musculoskeletal disorders Musculoskeletal injuries are by far the most common conditions related to work (see LFS ?gures, above) and the biggest cause of disability. Although not all work-related, musculoskeletal disorders account for 36.5 per cent of all disabilities among working-age people (compared with less than 4 per cent for sight and hearing impairment). Back pain (all causes – see BACKACHE) has been estimated to cause more than 50 million days lost every year in sickness absence and costs the UK economy up to £5 billion annually as a result of incapacity or disability. Back pain is a particular problem in the health-care sector because of the risk of injury from lifting and moving patients. While the emphasis should be on preventing injuries from occurring, it is now well established that the best way to manage most lower-back injuries is to encourage the patient to continue as normally as possible and to remain at work, or to return as soon as possible even if the patient has some residual back pain. Those who remain o? work on long-term sick leave are far less likely ever to return to work.

Aside from back injuries, there are a whole range of conditions affecting the upper limbs, neck and lower limbs. Some have clear aetiologies and clinical signs, while others are less well de?ned and have multiple causation. Some conditions, such as carpal tunnel syndrome, are prescribed diseases in certain occupations; however, they are not always caused by work (pregnant and older women are more likely to report carpal tunnel syndrome irrespective of work) and clinicians need to be careful when assigning work as the cause without ?rst considering the evidence. Other conditions may be revealed or made worse by work – such as OSTEOARTHRITIS in the hand. Much attention has focused on injuries caused by repeated movement, excessive force, and awkward postures and these include tenosynovitis (in?ammation of a tendon) and epicondylitis. The greatest controversy surrounds upper-limb disorders that do not present obvious tissue or nerve damage but nevertheless give signi?cant pain and discomfort to the individual. These are sometimes referred to as ‘repetitive strain injury’ or ‘di?use RSI’. The diagnosis of such conditions is controversial, making it di?cult for sufferers to pursue claims for compensation through the courts. Psychosocial factors, such as high demands of the job, lack of control and poor social support at work, have been implicated in the development of many upper-limb disorders, and in prevention and management it is important to deal with the psychological as well as the physical risk factors. Occupations known to be at particular risk of work-related upper-limb disorders include poultry processors, packers, electronic assembly workers, data processors, supermarket check-out operators and telephonists. These jobs often contain a number of the relevant exposures of dynamic load, static load, a full or excessive range of movements and awkward postures. (See UPPER LIMB DISORDERS.)

Physical agents A number of physical agents cause occupational ill-health of which the most important is occupational deafness. Workplace noise exposures in excess of 85 decibels for a working day are likely to cause damage to hearing which is initially restricted to the vital frequencies associated with speech – around 3–4 kHz. Protection from such noise is imperative as hearing aids do nothing to ameliorate the neural damage once it has occurred.

Hand-arm vibration syndrome is a disorder of the vascular and/or neural endings in the hands leading to episodic blanching (‘white ?nger’) and numbness which is exacerbated by low temperature. The condition, which is caused by vibrating tools such as chain saws and pneumatic hammers, is akin to RAYNAUD’S DISEASE and can be disabling.

Decompression sickness is caused by a rapid change in ambient pressure and is a disease associated with deep-sea divers, tunnel workers and high-?ying aviators. Apart from the direct effects of pressure change such as ruptured tympanic membrane or sinus pain, the more serious damage is indirectly due to nitrogen bubbles appearing in the blood and blocking small vessels. Central and peripheral nervous-system damage and bone necrosis are the most dangerous sequelae.

Radiation Non-ionising radiation from lasers or microwaves can cause severe localised heating leading to tissue damage of which cataracts (see under EYE, DISORDERS OF) are a particular variety. Ionising radiation from radioactive sources can cause similar acute tissue damage to the eyes as well as cell damage to rapidly dividing cells in the gut and bone marrow. Longer-term effects include genetic damage and various malignant disorders of which LEUKAEMIA and aplastic ANAEMIA are notable. Particular radioactive isotopes may destroy or induce malignant change in target organs, for example, 131I (thyroid), 90Sr (bone). Outdoor workers may also be at risk of sunburn and skin cancers. OTHER OCCUPATIONAL CANCERS Occupation is directly responsible for about 5 per cent of all cancers and contributes to a further 5 per cent. Apart from the cancers caused by asbestos and ionising radiation, a number of other occupational exposures can cause human cancer. The International Agency for Research on Cancer regularly reviews the evidence for carcinogenicity of compounds and industrial processes, and its published list of carcinogens is widely accepted as the current state of knowledge. More than 50 agents and processes are listed as class 1 carcinogens. Important occupational carcinogens include asbestos (mesothelioma, lung cancer); polynuclear aromatic hydrocarbons such as mineral oils, soots, tars (skin and lung cancer); the aromatic amines in dyestu?s (bladder cancer); certain hexavalent chromates, arsenic and nickel re?ning (lung cancer); wood and leather dust (nasal sinus cancer); benzene (leukaemia); and vinyl chloride monomer (angiosarcoma of the liver). It has been estimated that elimination of all known occupational carcinogens, if possible, would lead to an annual saving of 5,000 premature deaths in Britain.

Infections Two broad categories of job carry an occupational risk. These are workers in contact with animals (farmers, veterinary surgeons and slaughtermen) and those in contact with human sources of infection (health-care sta? and sewage workers).

Occupational infections include various zoonoses (pathogens transmissible from animals to humans), such as ANTHRAX, Borrelia burgdorferi (LYME DISEASE), bovine TUBERCULOSIS, BRUCELLOSIS, Chlamydia psittaci, leptospirosis, ORF virus, Q fever, RINGWORM and Streptococcus suis. Human pathogens that may be transmissible at work include tuberculosis, and blood-borne pathogens such as viral hepatitis (B and C) and HIV (see AIDS/HIV). Health-care workers at risk of exposure to infected blood and body ?uids should be immunised against hapatitis B.

Poisoning The incidence of occupational poisonings has diminished with the substitution of noxious chemicals with safer alternatives, and with the advent of improved containment. However, poisonings owing to accidents at work are still reported, sometimes with fatal consequences. Workers involved in the application of pesticides are particularly at risk if safe procedures are not followed or if equipment is faulty. Exposure to organophosphate pesticides, for example, can lead to breathing diffculties, vomiting, diarrhoea and abdominal cramps, and to other neurological effects including confusion and dizziness. Severe poisonings can lead to death. Exposure can be through ingestion, inhalation and dermal (skin) contact.

Stress and mental health Stress is an adverse reaction to excessive pressures or demands and, in occupational-health terms, is di?erent from the motivational impact often associated with challenging work (some refer to this as ‘positive stress’). Stress at work is often linked to increasing demands on workers, although coping can often prevent the development of stress. The causes of occupational stress are multivariate and encompass job characteristics (e.g. long or unsocial working hours, high work demands, imbalance between e?ort and reward, poorly managed organisational change, lack of control over work, poor social support at work, fear of redundancy and bullying), as well as individual factors (such as personality type, personal circumstances, coping strategies, and availability of psychosocial support outside work). Stress may in?uence behaviours such as smoking, alcohol consumption, sleep and diet, which may in turn affect people’s health. Stress may also have direct effects on the immune system (see IMMUNITY) and lead to a decline in health. Stress may also alter the course and response to treatment of conditions such as cardiovascular disease. As well as these general effects of stress, speci?c types of disorder may be observed.

Exposure to extremely traumatic incidents at work – such as dealing with a major accident involving multiple loss of life and serious injury

(e.g. paramedics at the scene of an explosion or rail crash) – may result in a chronic condition known as post-traumatic stress disorder (PTSD). PTSD is an abnormal psychological reaction to a traumatic event and is characterised by extreme psychological discomfort, such as anxiety or panic when reminded of the causative event; sufferers may be plagued with uncontrollable memories and can feel as if they are going through the trauma again. PTSD is a clinically de?ned condition in terms of its symptoms and causes and should not be used to include normal short-term reactions to trauma.... occupational health, medicine and diseases

The form of OSTEOCHONDROSIS involving the tibial tubercle – the growing point of the TIBIA. It occurs around PUBERTY, mainly in boys, and ?rst manifests itself by a painful swelling over the tibial tubercle at the upper end of the tibia. The pain is worst during and after exercise. A limp with increasing limitation of movement of the knee-joint develops. The disease usually clears up without treatment. If pain is troublesome, physiotherapy or immobilisation of the knee-joint in a plaster cast for up to eight weeks may be necessary.... osgood-schlatter’s disease

Painful and deformed erection of the PENIS caused by the formation of ?brous tissue. The cause is unknown but it may be associated with DUPUYTREN’S CONTRACTURE. The condition may be improved by surgery.... peyronie’s disease

An inherited disease in which the KIDNEYS contain many cysts. These grow in size until normal kidney tissue is largely destroyed. Cysts may also occur in other organs such as the liver. In adults, the disease will cause HYPERTENSION and kidney failure. There is also a juvenile form. There is no e?ective treatment, although symptoms can be alleviated by DIALYSIS and sometimes kidney transplant (see TRANSPLANTATION).... polycystic disease of the kidney

‘Rheumatism’ is the colloquial term for nonspeci?c musculoskeletal symptoms arising in the joints, ligaments, tendons and muscles. ‘Arthritis’ describes a pathological musculoskeletal disorder. Most common are sprains of ligaments, strains of tendons and muscles,

BURSITIS, TENDINITIS and non-speci?c back pain (see BACKACHE).

Osteoarthritis (OA) rarely starts before 40, but by the age of 80 affects 80 per cent of the population. There are structural and functional changes in the articular cartilage, as well as changes in the collagenous matrix of tendons and ligaments. OA is not purely ‘wear and tear’; various sub-groups have a genetic component. Early OA may be precipitated by localised alteration in anatomy, such as a fracture or infection of a joint. Reactive new bone growth typically occurs, causing sclerosis (hardening) beneath the joint, and osteophytes – outgrowths of bone – are characteristic at the margins of the joint. The most common sites are the ?rst metatarsal (great toe), spinal facet joints, the knee, the base of the thumb and the terminal ?nger joints (Heberden’s nodes).

OA has a slow but variable course, with periods of pain and low-grade in?ammation. Acute in?ammation, common in the knee, may result from release of pyrophosphate crystals, causing pseudo-gout.

Urate gout results from crystallisation of URIC ACID in joints, against a background of hyperuricaemia. This high concentration of uric acid in the blood may result from genetic and environmental factors, such as excess dietary purines, alcohol or diuretic drugs.

In?ammatory arthritis is less common than OA, but potentially much more serious. Several types exist, including: SPONDYLARTHRITIS This affects younger men, chie?y involving spinal and leg joints. This may lead to in?ammation and eventual ossi?cation of the enthesis – that is, where the ligaments and tendons are inserted into the bone around joints. This may be associated with disorders in other parts of the body: skin in?ammation (PSORIASIS), bowel and genito-urinary in?ammation, sometimes resulting in infection of the organs (such as dysentery). The syndromes most clearly delineated are ankylosing spondylitis (see SPINE AND SPINAL CORD, DISEASES AND INJURIES OF), psoriatic or colitic spondylitis, and REITER’S SYNDROME. The diagnosis is made clinically and radiologically; no association has been found with autoantibodies (see AUTOANTIBODY). A particularly clear gene locus, HLA B27, has been identi?ed in ankylosing spondylitis. Psoriasis can be associated with a characteristic peripheral arthritis.

Systemic autoimmune rheumatic diseases (see AUTOIMMUNE DISORDERS). RHEUMATOID ARTHRITIS (RA) – see also main entry. The most common of these diseases. Acute in?ammation causes lymphoid synovitis, leading to erosion of the cartilage, associated joints and soft tissues. Fibrosis follows, causing deformity. Autoantibodies are common, particularly Rheumatoid Factor. A common complication of RA is Sjögren’s syndrome, when in?ammation of the mucosal glands may result in a dry mouth and eyes. SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) and various overlap syndromes occur, such as systemic sclerosis and dermatomyositis. Autoantibodies against nuclear proteins such as DNA lead to deposits of immune complexes and VASCULITIS in various tissues, such as kidney, brain, skin and lungs. This may lead to various symptoms, and sometimes even to organ failure.

Infective arthritis includes: SEPTIC ARTHRITIS An uncommon but potentially fatal disease if not diagnosed and treated early with approriate antibiotics. Common causes are TUBERCLE bacilli and staphylococci (see STAPHYLOCOCCUS). Particularly at risk are the elderly and the immunologically vulnerable, such as those under treatment for cancer, or on CORTICOSTEROIDS or IMMUNOSUPPRESSANT drugs. RHEUMATIC FEVER Now rare in western countries. Resulting from an immunological reaction to a streptococcal infection, it is characterised by migratory arthritis, rash and cardiac involvement.

Other infections which may be associated with arthritis include rubella (German measles), parvovirus and LYME DISEASE.

Treatment Septic arthritis is the only type that can be cured using antibiotics, while the principles of treatment for the others are similar: to reduce risk factors (such as hyperuricaemia); to suppress in?ammation; to improve function with physiotherapy; and, in the event of joint failure, to perform surgical arthroplasty. NON-STEROIDAL ANTI-INFLAMMATORY DRUGS (NSAIDS) include aspirin, paracetamol and many recently developed ones, such as the proprionic acid derivatives IBUPROFEN and naproxen, along with other drugs that have similar properties such as PIROXICAM. They all carry a risk of toxicity, such as renal dysfunction, or gastrointestinal irritation with haemorrhage. Stronger suppression of in?ammation requires corticosteroids and CYTOTOXIC drugs such as azathioprine or cyclophosphamide. Recent research promises more speci?c and less toxic anti-in?ammatory drugs, such as the monoclonal antibodies like in?iximab. An important treatment for some osteoarthritic joints is surgical replacement of the joints.... joints, diseases of

A traditional name often applied to the angular curvature of the spine which results from tuberculous disease. (See SPINE AND SPINAL CORD, DISEASES AND INJURIES OF.) The disease is named after Percivall Pott, an English surgeon (1714–88), who ?rst described the condition.... pott’s disease

See LUNGS, DISEASES OF.... pulmonary diseases

The first is less severe, characterized by blanching spasms of blood vessels leading to the hands and feet, initiated by cold, moisture, even emotional stress and low blood sugar. Sort of a finger migraine. After the spasm relaxes, the tissue distal becomes red, hot, even painful. R. Disease is more serious and perhaps deriving from different causes as well. The spasms may not subside, the effected tissues can become purplish, and in extreme cases, gangrenous.... raynauds either syndrome or disease

See KIDNEYS, DISEASES OF.... renal diseases

ACUTE LIVER DISEASE The hepatitis viruses (A– F) are of paramount importance. Hepatitis E (HEV) often produces acute hepatic failure in pregnant women; extensive epidemics – transmitted by contaminated drinking-water supplies – have been documented. HBV, especially in association with HDV, also causes acute liver failure in infected patients in several tropical countries: however, the major importance of HBV is that the infection leads to chronic liver disease (see below). Other hepatotoxic viruses include the EPSTEIN BARR VIRUS, CYTOMEGALOVIRUS (CMV), the ?avivirus causing YELLOW FEVER, Marburg/Ebola viruses, etc. Acute liver disease also occurs in the presence of several acute bacterial infections, including Salmonella typhi, brucellosis, leptospirosis, syphilis, etc. The complex type of jaundice associated with acute systemic bacterial infection – especially pneumococcal PNEUMONIA and pyomiositis – assumes a major importance in many tropical countries, especially those in Africa and in Papua New Guinea. Of protozoan infections, plasmodium falciparum malaria, LEISHMANIASIS, and TOXOPLASMOSIS should be considered. Ascaris lumbricoides (the roundworm) can produce obstruction to the biliary system. CHRONIC LIVER DISEASE Long-term disease is dominated by sequelae of HBV and HCV infections (often acquired during the neonatal period), both of which can cause chronic active hepatitis, cirrhosis, and hepatocellular carcinoma (‘hepatoma’) – one of the world’s most common malignancies. Chronic liver disease is also caused by SCHISTOSOMIASIS (usually Schistosoma mansoni and S. japonicum), and acute and chronic alcohol ingestion. Furthermore, many local herbal remedies and also orthodox chemotherapeutic compounds (e.g. those used in tuberculosis and leprosy) can result in chronic liver disease. HAEMOSIDEROSIS is a major problem in southern Africa. Hepatocytes contain excessive iron – derived primarily from an excessive intake, often present in locally brewed beer; however, a genetic predisposition seems likely. Indian childhood cirrhosis – associated with an excess of copper – is a major problem in India and surrounding countries. Epidemiological evidence shows that much of the copper is derived from copper vessels used to store milk after weaning. Veno-occlusive disease was ?rst described in Jamaica and is caused by pyrrolyzidine alkaloids (present in bush-tea). Several HIV-associated ‘opportunistic’ infections can give rise to hepatic disease (see AIDS/HIV).

A localised (focal) form of liver disease in all tropical/subtropical countries results from invasive Entamoeba histolytica infection (amoebic liver ‘abscess’); serology and imaging techniques assist in diagnosis. Hydatidosis also causes localised liver disease; one or more cysts usually involve the right lobe of the liver. Serological tests and imaging techniques are of value in diagnosis. Whilst surgery formerly constituted the sole method of management, prolonged courses of albendazole and/or praziquantel have now been shown to be e?ective; however, surgical intervention is still required in some cases.

Hepato-biliary disease is also a problem in many tropical/subtropical countries. In southeast Asia, Clonorchis sinensis and Opisthorchis viverini infections cause chronic biliary-tract infection, complicated by adenocarcinoma of the biliary system. Praziquantel is e?ective chemotherapy before advanced disease ensues. Fasciola hepatica (the liver ?uke) is a further hepato-biliary helminthic infection; treatment is with bithionol or triclabendazole, praziquantel being relatively ine?ective.... liver disease in the tropics

A group of disorders in which the affected individuals suffer from repeated physical symptoms for which no physical cause can be discovered. Somatisation is the process by which a person’s psychological needs are expressed in the form of physical symptoms. (See also PSYCHOSOMATIC DISEASES.)... somatoform diseases

Or juvenile rheumatoid arthritis – see JUVENILE IDIOPATHIC ARTHRITIS (JIA).... still’s disease

Gastritis is the description for several unrelated diseases of the gastric mucosa.

Acute gastritis is an in?ammatory reaction of the gastric mucosa to various precipitating factors, ranging from physical and chemical injury to infections. Acute gastritis (especially of the antral mucosas) may well represent a reaction to infection by a bacterium called Helicobacter pylori. The in?ammatory changes usually go after appropriate antibiotic treatment for the H. pylori infection. Acute and chronic in?ammation occurs in response to chemical damage of the gastric mucosa. For example, REFLUX of duodenal contents may predispose to in?ammatory acute and chronic gastritis. Similarly, multiple small erosions or single or multiple ulcers have resulted from consumption of chemicals, especialy aspirin and antirheumatic NONSTEROIDAL ANTI-INFLAMMATORY DRUGS (NSAIDS).

Acute gastritis may cause anorexia, nausea, upper abdominal pain and, if erosive, haemorrhage. Treatment involves removal of the o?ending cause.

Chronic gastritis Accumulation of cells called round cells in the gastric mucosal characterises chronic gastritis. Most patients with chronic gastritis have no symptoms, and treatment of H. pylori infection usually cures the condition.

Atrophic gastritis A few patients with chronic gastritis may develop atrophic gastritis. With or without in?ammatory change, this disorder is common in western countries. The incidence increases with age, and more than 50 per cent of people over 50 may have it. A more complete and uniform type of ATROPHY, called ‘gastric atrophy’, characterises a familial disease called PERNICIOUS ANAEMIA. The cause of the latter disease is not known but it may be an autoimmune disorder.

Since atrophy of the corpus mucosa results in loss of acid- and pepsin-secreting cells, gastric secretion is reduced or absent. Patients with pernicious anaemia or severe atrophic gastritis of the corpus mucosa may secrete too little intrinsic factor for absorption of vitamin B12 and so can develop severe neurological disease (subacute combined degeneration of the spinal cord).

Patients with atrophic gastritis often have bacterial colonisation of the upper alimentary tract, with increased concentration of nitrite and carcinogenic N-nitroso compounds. These, coupled with excess growth of mucosal cells, may be linked to cancer. In chronic corpus gastritis, the risk of gastric cancer is about 3–4 times that of the general population.

Postgastrectomy mucosa The mucosa of the gastric remnant after surgical removal of the distal part of the stomach is usually in?amed and atrophic, and is also premalignant, with the risk of gastric cancer being very much greater than for patients with duodenal ulcer who have not had surgery.

Stress gastritis Acute stress gastritis develops, sometimes within hours, in individuals who have undergone severe physical trauma, BURNS (Curling ulcers), severe SEPSIS or major diseases such as heart attacks, strokes, intracranial trauma or operations (Cushing’s ulcers). The disorder presents with multiple super?cial erosions or ulcers of the gastric mucosa, with HAEMATEMESIS and MELAENA and sometimes with perforation when the acute ulcers erode through the stomach wall. Treatment involves inhibition of gastric secretion with intravenous infusion of an H2-receptorantagonist drug such as RANITIDINE or FAMOTIDINE, so that the gastric contents remain at a near neutral pH. Despite treatment, a few patients continue to bleed and may then require radical gastric surgery.

Gastric ulcer Gastric ulcers were common in young women during the 19th century, markedly fell in frequency in many western countries during the ?rst half of the 20th century, but remained common in coastal northern Norway, Japan, in young Australian women, and in some Andean populations. During the latter half of this century, gastric ulcers have again become more frequent in the West, with a peak incidence between 55 and 65 years.

The cause is not known. The two factors most strongly associated with the development of duodenal ulcers – gastric-acid production and gastric infection with H. pylori bacteria – are not nearly as strongly associated with gastric ulcers. The latter occur with increased frequency in individuals who take aspirin or NSAIDs. In healthy individuals who take NSAIDs, as many as 6 per cent develop a gastric ulcer during the ?rst week of treatment, while in patients with rheumatoid arthritis who are being treated long term with drugs, gastric ulcers occur in 20–40 per cent. The cause is inhibition of the enzyme cyclo-oxygenase, which in turn inhibits the production of repair-promoting PROSTAGLANDINS.

Gastric ulcers occur especially on the lesser curve of the stomach. The ulcers may erode through the whole thickness of the gastric wall, perforating into the peritoneal cavity or penetrating into liver, pancreas or colon.

Gastric ulcers usually present with a history of epigastric pain of less than one year. The pain tends to be associated with anorexia and may be aggravated by food, although patients with ‘prepyloric’ ulcers may obtain relief from eating or taking antacid preparations. Patients with gastric ulcers also complain of nausea and vomiting, and lose weight.

The principal complications of gastric ulcer are haemorrhage from arterial erosion, or perforation into the peritoneal cavity resulting in PERITONITIS, abscess or ?stula.

Aproximately one in two gastric ulcers heal ‘spontaneously’ in 2–3 months; however, up to 80 per cent of the patients relapse within 12 months. Repeated recurrence and rehealing results in scar tissue around the ulcer; this may cause a circumferential narrowing – a condition called ‘hour-glass stomach’.

The diagnosis of gastric ulcer is con?rmed by ENDOSCOPY. All patients with gastric ulcers should have multiple biopsies (see BIOPSY) to exclude the presence of malignant cells. Even after healing, gastric ulcers should be endoscopically monitored for a year.

Treatment of gastric ulcers is relatively simple: a course of one of the H2 RECEPTOR ANTAGONISTS heals gastric ulcers in 3 months. In patients who relapse, long-term inde?nite treatment with an H2 receptor antagonist such as ranitidine may be necessary since the ulcers tend to recur. Recently it has been claimed that gastric ulcers can be healed with a combination of a bismuth salt or a gastric secretory inhibitor

for example, one of the PROTON PUMP INHIBITORS such as omeprazole or lansoprazole

together with two antibiotics such as AMOXYCILLIN and METRONIDAZOLE. The long-term outcome of such treatment is not known. Partial gastrectomy, which used to be a regular treatment for gastric ulcers, is now much more rarely done unless the ulcer(s) contain precancerous cells.

Cancer of the stomach Cancer of the stomach is common and dangerous and, worldwide, accounts for approximately one in six of all deaths from cancer. There are marked geographical di?erences in frequency, with a very high incidence in Japan and low incidence in the USA. In the United Kingdom around 33 cases per 100,000 population are diagnosed annually. Studies have shown that environmental factors, rather than hereditary ones, are mainly responsible for the development of gastric cancer. Diet, including highly salted, pickled and smoked foods, and high concentrations of nitrate in food and drinking water, may well be responsible for the environmental effects.

Most gastric ulcers arise in abnormal gastric mucosa. The three mucosal disorders which especially predispose to gastric cancer include pernicious anaemia, postgastrectomy mucosa, and atrophic gastritis (see above). Around 90 per cent of gastric cancers have the microscopic appearance of abnormal mucosal cells (and are called ‘adenocarcinomas’). Most of the remainder look like endocrine cells of lymphoid tissue, although tumours with mixed microscopic appearance are common.

Early gastric cancer may be symptomless and, in countries like Japan with a high frequency of the disease, is often diagnosed during routine screening of the population. In more advanced cancers, upper abdominal pain, loss of appetite and loss of weight occur. Many present with obstructive symptoms, such as vomiting (when the pylorus is obstructed) or di?culty with swallowing. METASTASIS is obvious in up to two-thirds of patients and its presence contraindicates surgical cure. The diagnosis is made by endoscopic examination of the stomach and biopsy of abnormal-looking areas of mucosa. Treatment is surgical, often with additional chemotherapy and radiotherapy.... stomach, diseases of

... thyroid gland, diseases of

Absence or defects of the uterus

Rarely, the UTERUS may be completely absent as a result of abnormal development. In such patients secondary sexual development is normal but MENSTRUATION is absent (primary amennorhoea). The chromosomal make-up of the patient must be checked (see CHROMOSOMES; GENES): in a few cases the genotype is male (testicular feminisation syndrome). No treatment is available, although the woman should be counselled.

The uterus develops as two halves which fuse together. If the fusion is incomplete, a uterine SEPTUM results. Such patients with a double uterus (uterus didelphys) may have fertility problems which can be corrected by surgical removal of the uterine septum. Very rarely there may be two uteri with a double vagina.

The uterus of most women points forwards (anteversion) and bends forwards (ante?exion). However, about 25 per cent of women have a uterus which is pointed backwards (retroversion) and bent backwards (retro?exion). This is a normal variant and very rarely gives rise to any problems. If it does, the attitude of the uterus can be corrected by an operation called a ventrosuspension.

Endometritis The lining of the uterine cavity is called the ENDOMETRIUM. It is this layer that is partially shed cyclically in women of reproductive age giving rise to menstruation. Infection of the endometrium is called endometritis and usually occurs after a pregnancy or in association with the use of an intrauterine contraceptive device (IUCD – see CONTRACEPTION). The symptoms are usually of pain, bleeding and a fever. Treatment is with antibiotics. Unless the FALLOPIAN TUBES are involved and damaged, subsequent fertility is unaffected. Very rarely, the infection is caused by TUBERCULOSIS. Tuberculous endometritis may destroy the endometrium causing permanent amenorrhoea and sterility.

Menstrual disorders are common. Heavy periods (menorrhagia) are often caused by ?broids (see below) or adenomyosis (see below) or by anovulatory cycles. Anovulatory cycles result in the endometrium being subjected to unopposed oestrogen stimulation and occasionally undergoing hyperplasia. Treatment is with cyclical progestogens (see PROGESTOGEN) initially. If this form of treatment fails, endoscopic surgery to remove the endometrium may be successful. The endometrium may be removed using LASER (endometrial laser ablation) or electrocautery (transcervical resection of endometrium). Hysterectomy (see below) will cure the problem if endoscopic surgery fails. Adenomyosis is a condition in which endometrial tissue is found in the muscle layer (myometrium) of the uterus. It usually presents as heavy and painful periods, and occasionally pain during intercourse. Hysterectomy is usually required.

Oligomenorhoea (scanty or infrequent periods) may be caused by a variety of conditions including thyroid disease (see THYROID GLAND, DISEASES OF). It is most commonly associated with usage of the combined oral contraceptive pill. Once serious causes have been eliminated, the patient should be reassured. No treatment is necessary unless conception is desired, in which case the patient may require induction of ovulation.

Primary amenorrhoea means that the patient has never had a period. She should be investigated, although usually it is only due to an inexplicable delay in the onset of periods (delayed menarche) and not to any serious condition. Secondary amenorrhoea is the cessation of periods after menstruation has started. The most common cause is pregnancy. It may be also caused by endocrinological or hormonal problems, tuberculous endometritis, emotional problems and severe weight loss. The treatment of amenorrhoea depends on the cause.

Dysmenorrhoea, or painful periods, is the most common disorder; in most cases the cause is unknown, although the disorder may be due to excessive production of PROSTAGLANDINS.

Irregular menstruation (variations from the woman’s normal menstrual pattern or changes in the duration of bleeding or the amount) can be the result of a disturbance in the balance of OESTROGENS and PROGESTERONE hormone which between them regulate the cycle. For some time after the MENARCHE or before the MENOPAUSE, menstruation may be irregular. If irregularity occurs in a woman whose periods are normally regular, it may be due to unsuspected pregnancy, early miscarriage or to disorders in the uterus, OVARIES or pelvic cavity. The woman should seek medical advice.

Fibroids (leiomyomata) are benign tumours arising from the smooth muscle layer (myometrium) of the uterus. They are found in 80 per cent of women but only a small percentage give rise to any problems and may then require treatment. They may cause heavy periods and occasionally pain. Sometimes they present as a mass arising from the pelvis with pressure symptoms from the bladder or rectum. Although they can be shrunk medically using gonadorelin analogues, which raise the plasma concentrations of LUTEINISING HORMONE and FOLLICLE-STIMULATING HORMONE, this is not a long-term solution. In any case, ?broids only require treatment if they are large or enlarging, or if they cause symptoms. Treatment is either myomectomy (surgical removal) if fertility is to be retained, or a hysterectomy.

Uterine cancers tend to present after the age of 40 with abnormal bleeding (intermenstrual or postmenopausal bleeding). They are usually endometrial carcinomas. Eighty per cent present with early (Stage I) disease. Patients with operable cancers should be treated with total abdominal hysterectomy and bilateral excision of the ovaries and Fallopian tubes. Post-operative RADIOTHERAPY is usually given to those patients with adverse prognostic factors. Pre-operative radiotherapy is still given by some centres, although this practice is now regarded as outdated. PROGESTOGEN treatment may be extremely e?ective in cases of recurrence, but its value remains unproven when used as adjuvant treatment. In 2003 in England and Wales, more than 2,353 women died of uterine cancer.

Disorders of the cervix The cervix (neck of the womb) may produce an excessive discharge due to the presence of a cervical ectopy or ectropion. In both instances columnar epithelium – the layer of secreting cells – which usually lines the cervical canal is exposed on its surface. Asymptomatic patients do not require treatment. If treatment is required, cryocautery – local freezing of tissue – is usually e?ective.

Cervical smears are taken and examined in the laboratory to detect abnormal cells shed from the cervix. Its main purpose is to detect cervical intraepithelial neoplasia (CIN) – the presence of malignant cells in the surface tissue lining the cervix – since up to 40 per cent of women with this condition will develop cervical cancer if the CIN is left untreated. Women with abnormal smears should undergo colposcopy, a painless investigation using a low-powered microscope to inspect the cervix. If CIN is found, treatment consists of simply removing the area of abnormal skin, either using a diathermy loop or laser instrument.

Unfortunately, cervical cancer remains the most common of gynaecological cancers. The most common type is squamous cell carcinoma and around 4,000 new cases (all types) are diagnosed in England and Wales every year. As many as 50 per cent of the women affected may die from the disease within ?ve years. Cervical cancer is staged clinically in four bands according to how far it has extended, and treatment is determined by this staging. Stage I involves only the mucosal lining of the cervix and cone BIOPSY may be the best treatment in young women wanting children. In Stage IV the disease has spread beyond the cervix, uterus and pelvis to the URINARY BLADDER or RECTUM. For most women, radiotherapy or radical Wertheim’s hysterectomy – the latter being preferable for younger women – is the treatment of choice if the cancer is diagnosed early, both resulting in survival rates of ?ve years in 80 per cent of patients. Wertheim’s hysterectomy is a major operation in which the uterus, cervix, upper third of vagina and the tissue surrounding the cervix are removed together with the LYMPH NODES draining the area. The ovaries may be retained if desired. Patients with cervical cancer are treated by radiotherapy, either because they present too late for surgery or because the surgical skill to perform a radical hysterectomy is not available. These operations are best performed by gynaecological oncologists who are gynaecological surgeons specialising in the treatment of gynaecological tumours. The role of CHEMOTHERAPY in cervical and uterine cancer is still being evaluated.

Prolapse of the uterus is a disorder in which the organ drops from its normal situation down into the vagina. First-degree prolapse is a slight displacement of the uterus, second-degree a partial displacement and third-degree when the uterus can be seen outside the VULVA. It may be accompanied by a CYSTOCOELE (the bladder bulges into the front wall of the vagina), urethrocoele (the urethra bulges into the vagina) and rectocoele (the rectal wall bulges into the rear wall of the vagina). Prolapse most commonly occurs in middle-aged women who have had children, but the condition is much less common now than in the past when prenatal and obstetric care was poor, women had more pregnancies and their general health was poor. Treatment is with pelvic exercises, surgical repair of the vagina or hysterectomy. If the woman does not want or is not ?t for surgery, an internal support called a pessary can be ?tted – and changed periodically.

Vertical section of female reproductive tract (viewed from front) showing sites of common gynaecological disorders.

Hysterectomy Many serious conditions of the uterus have traditionally been treated by hysterectomy, or removal of the uterus. It remains a common surgical operation in the UK, but is being superseded in the treatment of some conditions, such as persistent MENORRHAGIA, with endometrial ablation – removal of the lining of the uterus using minimally invasive techniques, usually using an ENDOSCOPE and laser. Hysterectomy is done to treat ?broids, cancer of the uterus and cervix, menorrhagia, ENDOMETRIOSIS and sometimes for severely prolapsed uterus. Total hysterectomy is the usual type of operation: it involves the removal of the uterus and cervix and sometimes the ovaries. After hysterectomy a woman no longer menstruates and cannot become pregnant. If the ovaries have been removed as well and the woman had not reached the menopause, hormone replacement therapy (HRT – see MENOPAUSE) should be considered. Counselling helps the woman to recover from the operation which can be an emotionally challenging event for many.... uterus, diseases of

See under HEART, DISEASES OF.... valvular disease

An inherited disease, now called neuro?bromatosis. About one case occurs every 3,000 live births. The disease is characterised by tumours along the course of nerves which can be felt beneath the skin. Soft tumours may also develop beneath the skin. The condition may have other associated abnormalities such as SCOLIOSIS, decalci?cation of the bones due to overactivity of the PARATHYROID glands, and ?brosis in the lungs. Surgery may be needed for cosmetic reasons or to relieve pressure on the nervous system.... von recklinghausen’s disease

The LIVER may be extensively diseased without any obviously serious symptoms, unless the circulation through it is impeded, the out?ow of BILE checked, or neighbouring organs implicated. JAUNDICE is a symptom of several liver disorders, and is discussed under its separate heading. ASCITES, which may be caused by interference with the circulation through the portal vein of the liver, as well as by other reasons, is also considered separately. The presence of gallstones is a complication of some diseases connected with the liver, and is treated under GALLBLADDER, DISEASES OF. For hydatid cyst of the liver, see TAENIASIS. Liver diseases in a tropical environment are dealt with later in this section.

In?ammation of the liver, or HEPATITIS, may occur as part of a generalised infection or may be a localised condition. Infectious hepatitis, which is the result of infection with a virus, is one of the most common forms. Many di?erent viruses can cause hepatitis, including that responsible for glandular fever (see MONONUCLEOSIS). Certain spirochaetes may also be the cause, particularly that responsible for LEPTOSPIROSIS, as can many drugs. Hepatitis may also occur if there is obstruction of the BILE DUCT, as by a gall-stone.

Cirrhosis of the liver A disorder caused by chronic damage to liver cells. The liver develops areas of ?brosis or scarring; in response, the remaining normal liver cells increase and form regeneration nodules. Those islands of normality, however, suffer from inadequate blood supply, thus adversely affecting liver function. Alcohol is the most common cause of cirrhosis in the United Kingdom and the USA, and the incidence of the disorder among women in the UK has recently risen sharply as a consequence of greater consumption of alcohol by young women in the latter decades of the 20th century. In Africa and many parts of Asia, infection with hepatitis B virus is a common cause. Certain drugs – for example, PARACETAMOL – may damage the liver if taken in excess. Unusual causes of cirrhosis include defects of the bile ducts, HAEMOCHROMATOSIS (raised iron absorption from the gut), CYSTIC FIBROSIS, cardiac cirrhosis (the result of heart failure causing circulatory congestion in the liver), and WILSON’S DISEASE (raised copper absorption).

Symptoms Some people with cirrhosis have no signs or symptoms and the disease may be diagnosed at a routine medical examination. Others may develop jaundice, OEDEMA (including ascites – ?uid in the abdomen), fever, confusion, HAEMATEMESIS (vomiting blood), loss of appetite and lethargy. On examination, cirrhotic patients often have an enlarged liver and/ or SPLEEN, and HYPERTENSION. Liver function tests, cholangiography (X-ray examination of the bile ducts) and biopsy of liver tissue will help to reach a diagnosis.

Treatment Nothing can be done to repair a cirrhosed organ, but the cause, if known, must be removed and further advance of the process thus prevented. In the case of the liver, a high-protein, high-carbohydrate, low-fat diet is given, supplemented by liver extract and vitamins B and K. The consumption of alcohol should be banned. In patients with liver failure and a poor prognosis, liver TRANSPLANTATION is worthwhile but only after careful consideration.

Abscess of the liver When an ABSCESS develops in the liver, it is usually a result of amoebic DYSENTERY, appearing sometimes late in the disease – even after the diarrhoea is cured (see below). It may also follow upon in?ammation of the liver due to other causes. In the case of an amoebic abscess, treatment consists of oral metronidazole.

Acute hepatic necrosis is a destructive and often fatal disease of the liver which is very rare. It may be due to chemical poisons, such as carbontetrachloride, chloroform, phosphorus and industrial solvents derived from benzene. It may also be the cause of death in cases of poisoning with fungi. Very occasionally, it may be a complication of acute infectious hepatitis.

Cancer of the liver is not uncommon, although it is rare for the disease to begin in the liver – the involvement of this organ being usually secondary to disease situated somewhere in the stomach or bowels. Cancer originating in the liver is more common in Asia and Africa. It usually arises in a ?brotic (or cirrhotic) liver and in carriers of the hepatitis B virus. There is great emaciation, which increases as the disease progresses. The liver is much enlarged, and its margin and surface are rough, being studded with hard cancer masses of varying size, which can often be felt through the abdominal wall. Pain may be present. Jaundice and oedema often appear.... liver, diseases of

Named after the Frenchman, Prosper Menière, who ?rst described it in 1861, the disease is characterised by TINNITUS, deafness and intermittent attacks of VERTIGO. The ?rst manifestation is usually deafness on one side; then – as a rule, many months later – there is a sudden attack, without any warning, of intense vertigo. The acute giddiness usually lasts for two or three hours with some unsteadiness persisting for a few days. The time interval between attacks varies from a week to a few months. When they do recur, they tend to do so in clusters. The tinnitus, which tends to be low-pitched, comes on at about the same time as the deafness; it is often described as being like rushing water or escaping steam. The deafness becomes gradually worse until it is complete. The condition is due to excessive ?uid in the labyrinth of the ears (see EAR). The cause of this accumulation is not known, although it has been suggested that it might be a form of ALLERGY, or might be due to spasm of small blood vessels. The disorder is diagnosed from AUDIOMETRY, the CALORIC TEST and other investigations.

Treatment Acute vertigo symptoms can sometimes be alleviated with drugs such as CYCLIZINE HYDROCHLORIDE and NICOTINIC ACID, but the disorder is notoriously di?cult to treat and no certain cure is available. Surgical decompression of the ?uid in the ear’s balancing mechanism may relieve vertigo and prevent the disease from worsening. The vestibular nerve to the ear can also be cut to relieve vertigo while preserving hearing.... menière’s disease

A genetically determined blood disorder in which the affected person suffers episodes of spontaneous bleeding similar to that occurring in people with HAEMOPHILIA. It may be associated with a lack of FACTOR VIII (see COAGULATION) in the blood. The disorder is inherited as an autosomal dominant gene (see GENETIC DISORDERS).... von willebrand’s disease

Wilson’s disease, or hepatolenticular degeneration, is a familial disease in which there is an increased accumulation of COPPER in the liver, brain, and other tissues including the kidneys. Its main manifestation is the development of tremor and rigidity, with di?culty in speech. In many cases there is improvement following the administration of dimercaprol, penicillamine, or trientine dihydrochloride; these substances cause an increased excretion of copper.... wilson’s disease

Various conditions affecting the LUNGS are dealt with under the following headings: ASTHMA; BRONCHIECTASIS; CHEST, DEFORMITIES OF; CHRONIC OBSTRUCTIVE PULMONARY DISEASE (COPD); COLD, COMMON; EMPHYSEMA; EXPECTORATION; HAEMOPTYSIS; HAEMORRHAGE; OCCUPATIONAL HEALTH, MEDICINE AND DISEASES; PLEURISY; PNEUMONIA; PULMONARY EMBOLISM; TUBERCULOSIS.

In?ammation of the lungs is generally known as PNEUMONIA, when it is due to infection; as ALVEOLITIS when the in?ammation is immunological; and as PNEUMONITIS when it is due to physical or chemical agents.

Abscess of the lung consists of a collection of PUS within the lung tissue. Causes include inadequate treatment of pneumonia, inhalation of vomit, obstruction of the bronchial tubes by tumours and foreign bodies, pulmonary emboli (see EMBOLISM) and septic emboli. The patient becomes generally unwell with cough and fever. BRONCHOSCOPY is frequently performed to detect any obstruction to the bronchi. Treatment is with a prolonged course of antibiotics. Rarely, surgery is necessary.

Pulmonary oedema is the accumulation of ?uid in the pulmonary tissues and air spaces. This may be caused by cardiac disease (heart failure or disease of heart valves – see below, and HEART, DISEASES OF) or by an increase in the permeability of the pulmonary capillaries allowing leakage of ?uid into the lung tissue (see ACUTE RESPIRATORY DISTRESS SYNDROME (ARDS)).

Heart failure (left ventricular failure) can be caused by a weakness in the pumping action of the HEART leading to an increase in back pressure which forces ?uid out of the blood vessels into the lung tissue. Causes include heart attacks and HYPERTENSION (high blood pressure). Narrowed or leaking heart valves hinder the ?ow of blood through the heart; again, this produces an increase in back pressure which raises the capillary pressure in the pulmonary vessels and causes ?ooding of ?uid into the interstitial spaces and alveoli. Accumulation of ?uid in lung tissue produces breathlessness. Treatments include DIURETICS and other drugs to aid the pumping action of the heart. Surgical valve replacement may help when heart failure is due to valvular heart disease.

Acute respiratory distress syndrome Formerly known as adult respiratory distress syndrome (ARDS), this produces pulmonary congestion because of leakage of ?uid through pulmonary capillaries. It complicates a variety of illnesses such as sepsis, trauma, aspiration of gastric contents and di?use pneumonia. Treatment involves treating the cause and supporting the patient by providing oxygen.

Collapse of the lung may occur due to blockage of a bronchial tube by tumour, foreign body or a plug of mucus which may occur in bronchitis or pneumonia. Air beyond the blockage is absorbed into the circulation, causing the affected area of lung to collapse. Collapse may also occur when air is allowed into the pleural space – the space between the lining of the lung and the lining of the inside of the chest wall. This is called a pneumothorax and may occur following trauma, or spontaneously

– for example, when there is a rupture of a subpleural air pocket (such as a cyst) allowing a communication between the airways and the pleural space. Lung collapse by compression may occur when ?uid collects in the pleural space (pleural e?usion): when this ?uid is blood, it is known as a haemothorax; if it is due to pus it is known as an empyema. Collections of air, blood, pus or other ?uid can be removed from the pleural space by insertion of a chest drain, thus allowing the lung to re-expand.

Tumours of the lung are the most common cause of cancer in men and, along with breast cancer, are a major cause of cancer in women. Several types of lung cancer occur, the most common being squamous cell carcinoma, small- (or oat-) cell carcinoma, adenocarcinoma, and large-cell carcinoma. All but the adenocarcinoma have a strong link with smoking. Each type has a di?erent pattern of growth and responds di?erently to treatment. More than 30,000 men and women die of cancer of the trachea, bronchus and lung annually in England and Wales.

The most common presenting symptom is cough; others include haemoptisis (coughing up blood), breathlessness, chest pain, wheezing and weight loss. As well as spreading locally in the lung – the rate of spread varies – lung cancer commonly spawns secondary growths in the liver, bones or brain. Diagnosis is con?rmed by X-rays and bronchoscopy with biopsy.

Treatment Treatment for the two main categories of lung cancer – small-cell and nonsmall-cell cancer – is di?erent. Surgery is the only curative treatment for the latter and should be considered in all cases, even though fewer than half undergoing surgery will survive ?ve years. In those patients unsuitable for surgery, radical RADIOTHERAPY should be considered. For other patients the aim should be the control of symptoms and the maintenance of quality of life, with palliative radiotherapy one of the options.

Small-cell lung cancer progresses rapidly, and untreated patients survive for only a few months. Because the disease is often widespread by the time of diagnosis, surgery is rarely an option. All patients should be considered for CHEMOTHERAPY which improves symptoms and prolongs survival.

Wounds of the lung may cause damage to the lung and, by admitting air into the pleural cavity, cause the lung to collapse with air in the pleural space (pneumothorax). This may require the insertion of a chest drain to remove the air from the pleural space and allow the lung to re-expand. The lung may be wounded by the end of a fractured rib or by some sharp object such as a knife pushed between the ribs.... lungs, diseases of

Another name for ANTHRAX.... wool-sorters’ disease

Farmer’s lung. A disease contracted from working in mouldy hay. A wet summer means much moist hay, ideal breeding ground for micro-organisms.

Symptoms: inflammation of the lung and high temperature with dry cough.

Tea: Equal parts; Elderflowers (to reduce temperature). Comfrey leaves (cough), Thyme (antibiotic), Peppermint (to assist breathing). 2 teaspoons to each cup boiling water; infuse 5-15 minutes. 1 cup freely. Alternative: Combine Tinctures: Pleurisy root 2; Lobelia 1; Ginger half. One or two 5ml teaspoons in water 3-4 times daily. ... damp hay disease

See: DERMATITIS. ... exfoliative disease

Rare. Chiefly due to passage of a gene from a parent to an offspring, preventing production of an enzyme giving rise to symptoms including a pin-prick blood vessel rash, loss of weight, allergies, but the person is reasonably fit.

Symptomatic relief. Rutin, Hawthorn, Echinacea. Vitamin E: 200iu daily. ... fabry’s disease

The mucous membrane of the mouth can indicate the health of the individual and internal organs. For example, pallor or pigmentation may indicate ANAEMIA, JAUNDICE or ADDISON’S DISEASE.

Thrush is characterised by the presence of white patches on the mucous membrane which bleeds if the patch is gently removed. It is caused by the growth of a parasitic mould known as Candida albicans. Antifungal agents usually suppress the growth of candida. Candidal in?ltration of the mucosa is often found in cancerous lesions.

Leukoplakia literally means a white patch. In the mouth it is often due to an area of thickened cells from the horny layer of the epithelium. It appears as a white patch of varying density and is often grooved by dense ?ssures. There are many causes, most of them of minor importance. It may be associated with smoking, SYPHILIS, chronic SEPSIS or trauma from a sharp tooth. Cancer must be excluded.

Stomatitis (in?ammation of the mouth) arises from the same causes as in?ammation elsewhere, but among the main causes are the cutting of teeth in children, sharp or broken teeth, excess alcohol, tobacco smoking and general ill-health. The mucous membrane becomes red, swollen and tender and ulcers may appear. Treatment consists mainly of preventing secondary infection supervening before the stomatitis has resolved. Antiseptic mouthwashes are usually su?cient.

Gingivitis (see TEETH, DISEASES OF) is in?ammation of the gum where it touches the tooth. It is caused by poor oral hygiene and is often associated with the production of calculus or tartar on the teeth. If it is neglected it will proceed to periodontal disease.

Ulcers of the mouth These are usually small and arise from a variety of causes. Aphthous ulcers are the most common; they last about ten days and usually heal without scarring. They may be associated with STRESS or DYSPEPSIA. There is no ideal treatment.

Herpetic ulcers (see HERPES SIMPLEX) are similar but usually there are many ulcers and the patient appears feverish and unwell. This condition is more common in children.

Calculus (a) Salivary: a calculus (stone) may develop in one of the major salivary-gland ducts. This may result in a blockage which will cause the gland to swell and be painful. It usually swells before a meal and then slowly subsides. The stone may be passed but often has to be removed in a minor operation. If the gland behind the calculus becomes infected, then an ABSCESS forms and, if this persists, the removal of the gland may be indicated. (b) Dental, also called TARTAR: this is a calci?ed material which adheres to the teeth; it often starts as the soft debris found on teeth which have not been well cleaned and is called plaque. If not removed, it will gradually destroy the periodontal membrane and result in the loss of the tooth. (See TEETH, DISORDERS OF.)

Ranula This is a cyst-like swelling found in the ?oor of the mouth. It is often caused by mild trauma to the salivary glands with the result that saliva collects in the cyst instead of discharging into the mouth. Surgery may be required.

Mumps is an acute infective disorder of the major salivary glands. It causes painful enlargement of the glands which lasts for about two weeks. (See also main entry for MUMPS.)

Tumours may occur in all parts of the mouth, and may be BENIGN or MALIGNANT. Benign tumours are common and may follow mild trauma or be an exaggerated response to irritation. Polyps are found in the cheeks and on the tongue and become a nuisance as they may be bitten frequently. They are easily excised.

A MUCOCOELE is found mainly in the lower lip.

An exostosis or bone outgrowth is often found in the mid line of the palate and on the inside of the mandible (bone of the lower jaw). This only requires removal if it becomes unduly large or pointed and easily ulcerated.

Malignant tumours within the mouth are often large before they are noticed, whereas those on the lips are usually seen early and are more easily treated. The cancer may arise from any of the tissues found in the mouth including epithelium, bone, salivary tissue and tooth-forming tissue remnants. Oral cancers represent about 5 per cent of all reported malignancies, and in England and Wales around 3,300 people are diagnosed annually as having cancer of the mouth and PHARYNX.

Cancer of the mouth is less common below the age of 40 years and is more common in men. It is often associated with chronic irritation from a broken tooth or ill-?tting denture. It is also more common in those who smoke and those who chew betel leaves. Leukoplakia (see above) may be a precursor of cancer. Spread of the cancer is by way of the lymph nodes in the neck. Early treatment by surgery, radiotherapy or chemotherapy will often be e?ective, except for the posterior of the tongue where the prognosis is very poor. Although surgery may be extensive and potentially mutilating, recent advances in repairing defects and grafting tissues from elsewhere have made treatment more acceptable to the patient.... mouth, diseases of

The disease (caseous lymphadenitis) attacks the lymphatic system and may spread to sheep and humans. Breaks out sporadically in goats imported from abroad. Those in close contact with infected animals are at risk.

Symptoms: loss of weight, wasting illness, skin abscesses.

Treatment. Tea: Aniseed 1; Senna leaf 1; Nettles 2. 2 teaspoons to each cup boiling water; infuse 10-15 minutes in covered vessel. 1 cup thrice daily. Add to each dose: 30 drops Tincture Echinacea. ... goat disease

Hyperactive thyroid gland. See: THYROID. ... grave’s disease

Disease may affect the nail fold, nail plate or nail bed (see SKIN – Nail). In?ammation of the nail fold is called paronychia: acute paronychia is usually caused by a minor injury allowing in bacteria, which set up infection; chronic paronychia is often an occupational hazard, due to constant exposure of the hands to water – for example, in the catering industry, agriculture and housework – but may also be caused by impaired circulation in the ?ngers. Often, ANTIBIOTICS are su?cient for treatment, but sometimes surgical incision is needed.

PSORIASIS is a common cause of disease of the nail plate, as are eczema (see DERMATITIS) and fungal infection (see FUNGAL AND YEAST INFECTIONS). Deformity of the nail may point to systemic disease, as in CLUBBING, or the spoon-shaped concave nails (koilonychia) of severe iron de?ciency. Acute toxic illnesses may temporarily disturb nail growth causing horizontal ridges (Beau’s lines) which grow out slowly.

Onycholysis is separation of the nail plate from its bed. It may be due to psoriasis of the nail bed and trauma, or may occur spontaneously. Gross thickening of nails is common in the toes, caused by psoriasis or fungal infection.... nails, diseases of

been recognised from earliest times. Evidence of the condition has been found in Egyptian mummies; in the fourth century BC Hippocrates, the Greek physician, called it phthisis because of the lung involvement; and in 1882 Koch announced the discovery of the causative organism, the tubercle bacillus or Mycobacterium tuberculosis.

The symptoms depend upon the site of the infection. General symptoms such as fever, weight loss and night sweats are common. In the most common form of pulmonary tuberculosis, cough and blood-stained sputum (haemoptysis) are common symptoms.

The route of infection is most often by inhalation, although it can be by ingestion of products such as infected milk. The results of contact depend upon the extent of the exposure and the susceptibility of the individual. Around 30 per cent of those closely exposed to the organism will be infected, but most will contain the infection with no signi?cant clinical illness and only a minority will go on to develop clinical disease. Around 5 per cent of those infected will develop post-primary disease over the next two or three years. The rest are at risk of reactivation of the disease later, particularly if their resistance is reduced by associated disease, poor nutrition or immunosuppression. In developed countries around 5 per cent of those infected will reactivate their healed tuberculosis into a clinical problem.

Immunosuppressed patients such as those infected with HIV are at much greater risk of developing clinical tuberculosis on primary contact or from reactivation. This is a particular problem in many developing countries, where there is a high incidence of both HIV and tuberculosis.

Diagnosis This depends upon identi?cation of mycobacteria on direct staining of sputum or other secretions or tissue, and upon culture of the organism. Culture takes 4–6 weeks but is necessary for di?erentiation from other non-tuberculous mycobacteria and for drug-sensitivity testing. Newer techniques involving DNA ampli?cation by polymerase chain reaction (PCR) can detect small numbers of organisms and help with earlier diagnosis.

Treatment This can be preventative or curative. Important elements of prevention are adequate nutrition and social conditions, BCG vaccination (see IMMUNISATION), an adequate public-health programme for contact tracing, and chemoprophylaxis. Radiological screening with mass miniature radiography is no longer used.

Vaccination with an attenuated organism (BCG – Bacillus Calmette Guerin) is used in the United Kingdom and some other countries at 12–13 years, or earlier in high-risk groups. Some studies show 80 per cent protection against tuberculosis for ten years after vaccination.

Cases of open tuberculosis need to be identi?ed; their close contacts should be reviewed for evidence of disease. Adequate antibiotic chemotherapy removes the infective risk after around two weeks of treatment. Chemoprophylaxis – the use of antituberculous therapy in those without clinical disease – may be used in contacts who develop a strong reaction on tuberculin skin testing or those at high risk because of associated disease.

The major principles of antibiotic chemotherapy for tuberculosis are that a combination of drugs needs to be used, and that treatment needs to be continued for a prolonged period – usually six months. Use of single agents or interrupted courses leads to the development of drug resistance. Serious outbreaks of multiply resistant Mycobacterium tuberculosis have been seen mainly in AIDS units, where patients have greater susceptibility to the disease, but also in developing countries where maintenance of appropriate antibacterial therapy for six months or more can be di?cult.

Streptomycin was the ?rst useful agent identi?ed in 1944. The four drugs used most often now are RIFAMPICIN, ISONIAZID, PYRAZINAMIDE and ETHAMBUTOL. Three to four agents are used for the ?rst two months; then, when sensitivities are known and clinical response observed, two drugs, most often rifampicin and isoniazid, are continued for the rest of the course. Treatment is taken daily, although thrice-weekly, directly observed therapy is used when there is doubt about the patient’s compliance. All the antituberculous agents have a range of adverse effects that need to be monitored during treatment. Provided that the treatment is prescribed and taken appropriately, response to treatment is very good with cure of disease and very low relapse rates.... nature of the disease tuberculosis has

Creutzfeldt-Jakob disease. See: BOVINE SPONGIFORM ENCEPHALOPATHY. ... mad-cow disease, human

A serious defect of the mitral valve of the heart. Two kinds: (1) a permanently deformed narrowed valve (mitral stenosis), or (2) a dilated, over-stretched or distorted valve through enlargement of the left ventricle. In this case imperfect closure causes back pressure which produces chest symptoms. Incompetence leads to enlargement of the heart. Often a legacy from rheumatic fever in children. Sooner or later the liver congests with possible jaundice. Presence of albumin in the urine follows kidney involvement.

Treatment. See: HEART – LEFT VENTRICULAR FAILURE. ... mitral disease

Diseases, usually of an infectious nature, which are required by law to be made known to a health o?cer or local authority. (See INFECTION.) Certain occupational diseases are also noti?able.

Noti?able diseases in the UK (For more information on a speci?c disease, refer to the separate dictionary entry.) Acute encephalitis Acute poliomyelitis Anthrax Cholera Diphtheria Dysentery (amoebic or bacillary) Ebola virus disease Food poisoning Lassa fever Leprosy (reported to Chief Medical O?cer at the Department of Health) Leptospirosis Malaria Marburg disease Measles Meningitis Meningococcal septicaemia (without meningitis) Mumps Ophthalmia neonatorum Paratyphoid fever Plague Rabies Relapsing fever Rubella Scarlet fever Smallpox Tetanus Tuberculosis Typhoid fever Typhus Viral haemorrhagic fever (including Lassa fever) Viral hepatitis Whooping cough Yellow fever

Reporting AIDS is voluntary (and in con?dence) to the Director, Communicable Diseases Surveillance Centre (PHLS).... notifiable diseases

Oesophagitis is in?ammation of the OESOPHAGUS and may be due to swallowing a corrosive chemical (corrosive oesophagitis) or because the muscles of the lower part of the oesophagus do not work properly (ACHALASIA), allowing the stomach’s acidic contents to regurgitate (re?ux oesophagitis). HIATUS HERNIA is sometimes associated with the latter condition. Diagnosis can be made by ENDOSCOPY of the oesophagus and/or an X-ray examination using a barium swallow. Treatment of re?ux oesophagitis is by an appropriate diet and weight loss. Stricture of the oesophagus can result from swallowing a corrosive ?uid and may produce severe narrowing. Such strictures may sometimes be dilated by the use of suitable instruments; otherwise, surgery may be necessary.

A still more serious and frequent cause of oesophageal stricture is that due to cancer, which may occur at any part, but is most common at the lower end, near the entrance into the stomach. The chief symptoms of this condition are increasing di?culty in swallowing, increasing debility, together with enlargement of the glands in the neck. The condition usually occurs in middle age or beyond and around 5,000 people are diagnosed with such cancer every year in the United Kingdom. In many cases treatment can only be palliative, but recent advances in surgery are producing promising results. In some cases treatment with irradiation or anti-cancer drugs produces relief, if not cure. In those in whom neither operation nor radiation can be performed, life may be prolonged and freedom from pain obtained by ?uid food which is either swallowed or passed down a tube. In cases of achalasia (see above), the passage of a special bougie down the oesophagus to dilate the sphincter may be e?ective.

Strictures of the oesophagus may also be produced by the pressure of tumours or aneurysms within the cavity of the chest but external to the gullet.

Finally, di?culty in swallowing sometimes occurs in certain serious nervous diseases from paralysis affecting the nerves supplying the muscular coats of the PHARYNX, which thus loses its propulsive power (bulbar paralysis).

Foreign bodies which lodge in the respiratory part of the throat – i.e. at the entrance to, or in the cavity of, the larynx – set up immediate symptoms of CHOKING. Those which lodge in the gullet, on the contrary, do not usually set up any immediately serious symptoms, although their presence causes considerable discomfort. Medical attention is usually required.... oesophagus, diseases of

Oöphoritis (infection of the ovaries) rarely occurs alone, except in viral infections such as mumps. Usually it is associated with infection of the FALLOPIAN TUBES (SALPINGITIS). It may occur as a complication of a miscarriage, a therapeutic abortion, or the birth of a baby. Cases not associated with pregnancy typically result from sexual activity: the most common organisms involved are Chlamydia, E. coli, and Neisseria gonorrhoea. Cervical swabs should be sent for culture and analgesics given, together with the appropriate antibiotics.

Failure of OVULATION is the cause of INFERTILITY in around a third of couples seeking help with conception. It may also lead to menstrual problems (see MENSTRUATION), such as an irregular menstrual cycle or MENORRHAGIA. An uncommon cause of failure of ovulation is POLYCYSTIC OVARY SYNDROME, often associated with acne, hirsutism, and obesity. Treatment depends on the symptoms. Early ovarian failure is the cause of premature MENOPAUSE. Treatment consists of hormone replacement therapy using a combination of oestrogen and progestogen.

Ovarian cysts (for example, follicular cysts) result from ovulation. They may be symptomless but sometimes cause abdominal pain, pain during intercourse or disturbances in menstruation. Twisting or rupture can cause severe pain, pyrexia (fever) and nausea, and explorative surgery – endoscopic laparotomy – may be needed to establish a diagnosis (symptoms of ECTOPIC PREGNANCY are similar). The ovary may have to be removed. Simple cysts often disappear of their own accord but a large cyst can cause pressure on surrounding structures and therefore should be surgically removed.

In young women the most common benign tumour is a dermoid cyst, while in older women, ?broma (see under UTERUS, DISEASES OF) is more common. All benign tumours should be removed surgically in order to be sure they are not malignant.

Malignant tumours may be primary (arising in the ovary) or secondary (metastases from a cancer developing in another organ). Treatment depends upon the site and type of the primary tumour.

Around 5,000 women a year are diagnosed as having ovarian cancer in England and Wales. Unfortunately it is not readily detected in its early stages; around 85 per cent of women do not see a doctor until after the tumour has spread. Early tumours present with symptoms similar to benign tumours, while late ones present with abdominal distension, pain and vague gastrointestinal symptoms. The disease is most common in menopausal women. Earlier diagnosis and treatment can be achieved by ULTRASOUND screening. Treatment is surgical, aimed at totally removing the tumour mass. Nowadays RADIOTHERAPY is only used for palliation. CHEMOTHERAPY is often given to patients with ovarian metastases, or who have residual disease after surgery. The most active cytotoxic agent is the taxane, PACLITAXEL – especially when it is combined with cisplatin.... ovaries, diseases of

Cancer of the mammary ducts (rare). Nipple: encrusted, red, inflamed. See: CANCER OF THE BREAST. ... paget’s disease of the nipple

Also called osteitis deformans, this is a chronic disease in which the bones (see BONE) – especially those of the skull, limbs, and spine – gradually become thick and also soft, causing them to bend. It is said to be the most common form of bone disease in the world, and it is estimated that some 600,000 people in England may suffer from it. It seldom occurs under the age of 40. Pain is its most unpleasant manifestation. The cause is not known, and there is no known cure, but satisfactory results are being obtained from the use of CALCITONIN and a group of drugs known as BISPHOSPHONATES

(e.g. etidronate). Those with the disease can obtain help and advice from the National Association for the Relief of Paget’s Disease.... paget’s disease of bone

An infection of the endometrium (membraneous lining) of the UTERUS, FALLOPIAN TUBES and adjacent structures caused by the ascent of micro-organisms from the vulva and vagina. Around 100,000 women develop PID each year in the UK; most of those affected are under 25 years of age. Infection is commonly associated with sexual intercourse; Chlamydia trachomatis (see CHLAMYDIA) and Neisseria gonorrhoeae (see NEISSERIACEAE) are the most common pathogens. Although these bacteria initiate PID, opportunistic bacteria such as STREPTOCOCCUS and bacteroides often replace them.

The infection may be silent – with no obvious symptoms – or symptoms may be troublesome, for example, vaginal discharge and sometimes a palpable mass in the lower abdomen. If a LAPAROSCOPY is done – usually by endoscopic examination – overt evidence of PID is found in around 65 per cent of suspected cases.

PID may be confused with APPENDICITIS, ECTOPIC PREGNANCY – and PID is a common cause of such pregnancies – ovarian cyst (see OVARIES, DISEASES OF) and in?ammatory disorders of the intestines. Treatment is with a combination of ANTIBIOTICS that are active against the likely pathogens, accompanied by ANALGESICS. Patients may become seriously ill and require hospital care, where surgery is sometimes required if conservative management is unsuccessful. All women who have PID should be screened for sexually transmitted disease and, if this is present, should be referred with their partner(s) to a genito-urinary medicine clinic. Up to 20 per cent of women who have PID become infertile, and there is a seven-to ten-fold greater risk of an ectopic pregnancy occurring.... pelvic inflammatory disease(pid)

An infectious parasitic disease found only in parts of South and Central America that is spread by insects commonly called cone-nosed or assassin bugs.

The parasites live in the bloodstream and can affect the heart, intestines, and nervous system.

Symptoms include swelling of the lymph nodes and fever.

Long-term complications include damage to the heart.

The drug nifurtimox kills the parasites in the blood but has unpleasant side effects.... chagas’ disease

An inherited muscle-wasting disease of the legs (see peroneal muscular atrophy).... charcot–marie–tooth disease

Types of autoimmune disorders that often affect blood vessels and produce secondary connective tissue damage. They include rheumatoid arthritis, systemic lupus erythematosus, polyarteritis nodosa, scleroderma, and dermatomyositis.... connective tissue diseases

Disease of the PROSTATE GLAND can affect the ?ow of URINE so that patients present with urological symptoms.

Prostatitis This can be either acute or chronic. Acute prostatitis is caused by a bacterial infection, while chronic prostatitis may follow on from an acute attack, arise insidiously, or be non-bacterial in origin.

Symptoms Typically the patient has pain in the PERINEUM, groins, or supra pubic region, and pain on EJACULATION. He may also have urinary frequency, and urgency.

Treatment Acute and chronic prostatitis are treated with a prolonged course of antibiotics. Patients with chronic prostatitis may also require anti-in?ammatory drugs, and antidepressants.

Prostatic enlargement This is the result of benign prostatic hyperplasia (BPH), causing enlargement of the prostate. The exact cause of this enlargement is unknown, but it affects 50 per cent of men between 40 and 59 years and 95 per cent of men over 70 years.

Symptoms These are urinary hesitancy, poor urinary stream, terminal dribbling, frequency and urgency of urination and the need to pass urine at night (nocturia). The diagnosis is made from the patient’s history; a digital examination of the prostate gland via the rectum to assess enlargement; and analysis of the urinary ?ow rate.

Treatment This can be with tablets, which either shrink the prostate – an anti-androgen drug such as ?nasteride – or relax the urinary sphincter muscle during urination. For more severe symptoms the prostate can be removed surgically, by transurethral resection of prostate (TURP), using either electrocautery or laser energy. A new treatment is the use of microwaves to heat up and shrink the enlarged gland.

Cancer Cancer of the prostate is the fourth most common cause of death from cancer in northern European males: more than 10,000 cases are diagnosed every year in the UK and the incidence is rising by 3 per cent annually.

Little is known about the cause, but the majority of prostate cancers require the male hormones, androgens, to grow.

Symptoms These are similar to those resulting from benign prostatic hypertrophy (see above). Spread of the cancer to bones can cause pain. The use of a blood test measuring the amount of an ANTIGEN, PROSTATE SPECIFIC ANTIGEN (PSA), can be helpful in making the diagnosis – as can an ULTRASOUND scan of the prostate.

Treatment This could be surgical, with removal of the prostate (either via an abdominal incision, total prostatectomy, or transurethrally), or could be by radiotherapy. In more advanced cancers, treatment with anti-androgen drugs, such as cyprotexone acetate or certain oestrogens, is used to inhibit the growth of the cancer.... prostate gland, diseases of

So called after Maurice Raynaud (1834–81), the Paris physician who published a thesis on the subject in 1862. This is a condition in which the circulation (see CIRCULATORY SYSTEM OF THE BLOOD) becomes suddenly obstructed in outlying parts of the body. It is supposed to be due to spasm of the smaller arteries in the affected part, as the result of them responding abnormally to impuilses from the SYMPATHETIC NERVOUS SYSTEM. Its effects are increased both by cold and by various diseases involving the blood vessels.

Symptoms The condition is most commonly con?ned to the occurrence of ‘dead ?ngers’ – the ?ngers (or the toes, ears, or nose) becoming white, numb, and waxy-looking. This condition may last for some minutes, or may not pass o? for several hours, or even for a day or two.

Treatment People who are subject to these attacks should be careful in winter to protect the feet and hands from cold, and should always use warm water when washing the hands. In addition, the whole body should be kept warm, as spasm of the arterioles in the feet and hands may be induced by chilling of the body. Su?erers should not smoke. VASODILATORS are helpful, especially the calcium antagonists. In all patients who do not respond to such medical treatment, surgery should be considered in the form of sympathectomy: i.e. cutting of the sympathetic nerves to the affected part. This results in dilatation of the arterioles and hence an improved blood supply. This operation is more successful in the case of the feet than in the case of the hands.... raynaud’s disease

In certain diseases associated with marked changes in the blood, such as LEUKAEMIA and MALARIA, the SPLEEN becomes chronically enlarged. In some of the acute infectious diseases, it becomes congested and acutely enlarged: for example, in typhoid fever (see ENTERIC FEVER), ANTHRAX and infectious MONONUCLEOSIS. Rupture of the spleen may occur, like rupture of other internal organs, in consequence of extreme violence – but in malarious countries, where many people have the spleen greatly enlarged and softened as the result of malaria, rupture of this organ occasionally occurs following even a light blow to the left side of the abdomen. The spleen, in consequence of its structure, bleeds excessively when torn, so that this accident is generally followed by collapse, signs of internal haemorrhage – and death if not dealt with promptly by operation.... spleen, diseases of

Lung disorders caused by dust particles inhaled and absorbed into the lung tissues. There they may cause fibrosis (formation of scar tissue) and progressive lung damage. The main symptoms are a cough and breathing difficulty. It may take at least 10 years of exposure to dusts containing coal, silica, talc, or asbestos before serious lung damage develops (see pneumoconiosis). Hypersensitivity to moulds on hay or grain may lead to allergic alveolitis. Preventive measures, such as the installation of dust extraction machinery, have reduced the incidence of dust diseases.... dust diseases

A term used to refer either to the inherited disorder cystic fibrosis or the presence of general lumpiness of the breasts that is a variation of normal.

(See also fibroadenosis).... fibrocystic disease

A common inherited condition that affects the way in which bilirubin is processed by the liver. Usually there are no symptoms, but jaundice may be brought on by an unrelated illness. Sufferers are otherwise healthy. No treatment is necessary.... gilbert’s disease

Taken at face value, the term ‘psychosomatic’ simply means the interaction of psyche (mind) and soma (body). As such it is a noncontroversial concept that points out the many ways in which psychological factors affect the expression of physical disorder and vice-versa. Few doubt that stress makes many physical illnesses worse, at least as far as symptoms are concerned. There are also few physical illnesses in which the outcome is not made worse by psychological factors: depression after a heart attack, for example, has a worse e?ect on prognosis than even smoking. A little more problematic is the very popular belief that stress causes relapses of physical disorders, such as cancer; some studies have found this to be the case, others not.

However, calling a condition psychosomatic implies something more – the primacy of the psyche over the soma. Going back to the in?uential theories and practice of PSYCHOANALYSIS as expounded from the 1930s, many diseases have been proposed as the result of psychological factors.These have included PEPTIC ULCER, ULCERATIVE COLITIS, ASTHMA, PSORIASIS and others. In this view, much physical disorder is due to repressed or excessive emotions. Likewise it is also argued that whereas some people express psychological distress via psychological symptoms (such as anxiety, depression and so on), others develop physical symptoms instead – and that they are also at greater risk of physical disease.

The trouble with this view is that medical advances repeatedly show that it goes too far. Stress certainly causes physical symptoms – for example, DYSPEPSIA – but the belief that it caused peptic ulcers vanished with the discovery of the true cause: colonisation of the stomach by the bacterium, Helicobacter pylori. Of course, stress and social adversity affect the risk of many diseases. For example, the incidence of heart disease among UK government employees (civil servants) has been shown to be in?uenced by their social class and their degree of job satisfaction. But we do not know how this works. Some argue that social adversity and stress in?uence how the heart functions (‘He died of a broken heart’). Stress can also affect IMMUNITY but it cannot cause AIDS/HIV and we do not know if there is a link running from stress to abnormal immune function to actual illness.

We can say that psychological factors provoke physical symptoms, and often even explain how this can happen. For example, when you are anxious you produce more epinephrine (adrenaline), which gives rise to chest pain, ‘butter?ies in the stomach’ and PALPITATION. These symptoms are not ‘all in the mind’, even if the trigger is a psychological one. People who are depressed are more likely to experience nearly every physical symptom there is, but especially pain and fatigue. Taken as a whole, psychologically induced symptoms are an enormous burden on the NHS and probably responsible for more doctor visits and sickness absence than any other single cause. Also we can be con?dent that social adversity and stress powerfully in?uence the outcome of many illnesses; likewise, a vast range of unhealthy activities and behaviours such as smoking, excessive alcohol intake, excessive eating, and so on. But we must be careful not to assume that our emotions directly cause our illnesses.... psychosomatic diseases

As distinct from surveillance of persons, surveillance of disease is the continuing scrutiny of all aspects of occurrences and spread of a disease that are pertinent to effective control. Included are the systematic collection and evaluation of: 1. morbidity and mortality reports; 2. special reports of field investigations, of epidemics and of individual cases; 3. isolation and identification of infectious agents by laboratories; 4. data concerning the availability and use of vaccines and toxoids, immunoglobulin, insecticides, and other substances used in control; 5. information regarding immunity levels in segments of the population; and 6. other relevant epidemiological data.... surveillance of disease

The SCROTUM may be affected by various skin diseases, particularly eczema (see DERMATITIS) or fungal infection. A HERNIA may pass into the scrotum. Defective development of the testicles may lead to their retention within the abdomen, a condition called undescended testicle.

Hydrocoele is a collection of ?uid distending one or both sides of the scrotum with ?uid. Treatment is by withdrawal of the ?uid using a sterile syringe and aspiration needle.

Hypogonadism Reduced activity of the testes or ovaries (male and female gonads). The result is impaired development of the secondary sexual characteristics (growth of the genitals, breast and adult hair distribution). The cause may be hereditary or the result of a disorder of the PITUITARY GLAND which produces GONADOTROPHINS that stimulate development of the testes and ovaries.

Varicocoele is distension of the veins of the spermatic cord, especially on the left side, the causes being similar to varicose veins elsewhere (see VEINS, DISEASES OF). The chief symptom is a painful dragging sensation in the testicle, especially after exertion. Wearing a support provides relief; rarely, an operation may be advisable. Low sperm-count may accompany a varicocele, in which case surgical removal may be advisable.

Orchitis or acute in?ammation may arise from CYSTITIS, stone in the bladder, and in?ammation in the urinary organs, especially GONORRHOEA. It may also follow MUMPS. Intense pain, swelling and redness occur; treatment consists of rest, support of the scrotum, analgesics as appropriate, and the administration of antibiotics if a de?nitive microorganism can be identi?ed. In some patients the condition may develop and form an ABSCESS.

Torsion or twisting of the spermatic cord is relatively common in adolescents. About half the cases occur in the early hours of the morning during sleep. Typically felt as pain of varying severity in the lower abdomen or scrotum, the testis becomes hard and swollen. Treatment consists of immediate undoing of the torsion by manipulation. If done within a few hours, no harm should ensue; however, this should be followed within six hours by surgical operation to ensure that the torsion has been relieved and to ?x the testes. Late surgical attention may result in ATROPHY of the testis.

Tuberculosis may occur in the testicle, especially when the bladder is already affected. Causing little pain, the infection is often far advanced before attracting attention. The condition generally responds well to treatment with a combination of antituberculous drugs (see also main entry for TUBERCULOSIS).

Tumours of the testes occur in around 600 males annually in the United Kingdom, and are the second most common form of malignant growth in young males. There are two types: SEMINOMA and TERATOMA. When adequately treated the survival rate for the former is 95 per cent, while that for the latter is 50 per cent.

Injuries A severe blow may lead to SHOCK and symptoms of collapse, usually relieved by rest in bed; however, a HAEMATOMA may develop.... testicle, diseases of

The following are described under their separate dictionary entries: FAECES; HAEMORRHOIDS; FISTULA; DIARRHOEA; CONSTIPATION.

Imperforate anus, or absence of the anus, may occur in newly born children, and the condition is relieved by operation.

Itching at the anal opening is common and can be troublesome. It may be due to slight abrasions, to piles, to the presence of threadworms (see ENTEROBIASIS), and/or to anal sex. The anal area should be bathed once or twice a day; clothing should be loose and smooth. Local application of soothing preparations containing mild astringents (bismuth subgallate, zinc oxide and hamamelis) and CORTICOSTEROIDS may provide symptomatic relief. Proprietary preparations contain lubricants, VASOCONSTRICTORS and mild ANTISEPTICS.

Pain on defaecation is commonly caused by a small ulcer or ?ssure, or by an engorged haemorrhoid (pile). Haemorrhoids may also cause an aching pain in the rectum. (See also PROCTALGIA.)

Abscess in the cellular tissue at the side of the rectum – known from its position as an ischio-rectal abscess – is fairly common and may produce a ?stula. Treatment is by ANTIBIOTICS and, if necessary, surgery to drain the abscess.

Prolapse or protrusion of the rectum is sometimes found in children, usually between the ages of six months and two years. This is generally a temporary disorder. Straining at defaecation by adults can cause the lining of the rectum to protrude outside the anus, resulting in discomfort, discharge and bleeding. Treatment of the underlying constipation is essential as well as local symptomatic measures (see above). Haemorrhoids sometimes prolapse. If a return to normal bowel habits with the production of soft faeces fails to restore the rectum to normal, surgery to remove the haemorrhoids may be necessary. If prolapse of the rectum recurs, despite a return to normal bowel habits, surgery may be required to rectify it.

Tumours of small size situated on the skin near the opening of the bowel, and consisting of nodules, tags of skin, or cauli?ower-like excrescences, are common, and may give rise to pain, itching and watery discharges. These are easily removed if necessary. Polypi (see POLYPUS) occasionally develop within the rectum, and may give rise to no pain, although they may cause frequent discharges of blood. Like polypi elsewhere, they may often be removed by a minor operation. (See also POLYPOSIS.)

Cancer of the rectum and colon is the commonest malignancy in the gastrointestinal tract: around 17,000 people a year die from these conditions in the United Kingdom. Rectal cancer is more common in men than in women; colonic cancer is more common in women. Rectal cancer is a disease of later life, seldom affecting young people, and its appearance is generally insidious. The tumour begins commonly in the mucous membrane, its structure resembling that of the glands with which the membrane is furnished, and it quickly in?ltrates the other coats of the intestine and then invades neighbouring organs. Secondary growths in most cases occur soon in the lymphatic glands within the abdomen and in the liver. The symptoms appear gradually and consist of diarrhoea, alternating with attacks of constipation, and, later on, discharges of blood or blood-stained ?uid from the bowels, together with weight loss and weakness. A growth can be well advanced before it causes much disturbance. Treatment is surgical and usually this consists of removal of the whole of the rectum and the distal two-thirds of the sigmoid colon, and the establishment of a COLOSTOMY. Depending upon the extent of the tumour, approximately 50 per cent of the patients who have this operation are alive and well after ?ve years. In some cases in which the growth occurs in the upper part of the rectum, it is now possible to remove the growth and preserve the anus so that the patient is saved the discomfort of having a colostomy. RADIOTHERAPY and CHEMOTHERAPY may also be necessary.... rectum, diseases of

An autoimmune disorder that is characterized by toxic goitre (an overactive and enlarged thyroid gland), excessive production of thyroid hormones leading to thyrotoxicosis, and exophthalmos.... graves’ disease

The most common form of heart disease, in which narrowing or obstruction of the coronary arteries, usually by atherosclerosis, results in a reduced blood supply (see coronary artery disease).... heart disease, ischaemic

Sexually transmitted diseases – traditionally called venereal diseases – are infections transmitted by sexual intercourse (heterosexual and homosexual). In the United Kingdom they are treated in genito-urinary medicine (GUM) clinics. The incidences of these diseases are more common among people who have several sexual partners, as STDs are very infectious; some of the major STDs, particularly AIDS/HIV, are also transmitted by blood and so can result from needle-sharing by drug addicts, or by TRANSFUSION. The ‘traditional’ STDs – SYPHILIS, GONORRHOEA and CHANCROID – now comprise only 10 per cent of all such diseases treated in STD clinics: these clinics also treat patients with CHLAMYDIA, TRICHOMONIASIS, HERPES GENITALIS, MOLLUSCUM CONTAGIOSUM and genital WARTS. SCABIES and pubic lice (see PEDICULOSIS – Pediculus pubis) can also be transmitted by sexual intercourse, and HEPATITIS B is also recognised as an STD.

The incidence of STDs rose sharply during World War II but the advent of PENICILLIN and subsequent antibiotics meant that syphilis and gonorrhoea could be treated e?ectively. The arrival of oral contraception and more tolerant public attitudes to sexual activities resulted in an increase in the incidence of sexually transmitted infections. The diagnosis of NONSPECIFIC URETHRITIS (NSU), once given to many patients whose symptoms were not due to the traditional recognised infections, was in the 1970s realised to be wrong, as the condition was proved to be the result of infection by chlamydia.

Most STDs are treatable, but herpes is an infection that could become chronic, while hepatitis B and, of course, AIDS/HIV are potentially fatal – although treatment of HIV is now proving more e?ective. As well as the treatment and subsequent monitoring of patients with STDs, one of the important functions of clinics has been the tracing, treatment and follow-up of sexual contacts of infected individuals, a procedure that is conducted con?dentially.

Apart from AIDS/HIV, the incidence of STDs fell during the 1980s; however in some countries the agents causing syphilis and gonorrhoea began to develop resistance to antibiotics, which showed the continued importance of practising safe sex – in particular by restricting the number of sexual partners and ensuring the regular use of condoms. In the United Kingdom the rates per million of the male population infected by syphilis rose from 8.8 in 1991 to 9.7 in 1999; in females the ?gures were 4.0 to 4.5, respectively. For gonorrhoea, the ?gures for men were 399.4 in 1991 and 385 in 1999, with women also showing a reduction, from

216.5 to 171.3. In 1991, 552.6 per million of men had chlamydia, a ?gure which rose to

829.5 in 1999; for women in the same period the incidence also rose, from 622.5 to 1,077.1 per million. For genital herpes simplex virus, the infection rate for men fell from 236.6 per million to 227.7, whereas the ?gures for women showed a rise, 258.5 to 357. The incidence of AIDS/HIV is given under the relevant entry. (These ?gures are based on information in United Kingdom Health Statistics, 2001 edition, UKHSI, published by the O?ce of National Statistics.)... sexually transmitted diseases (stds)

Trauma Injury to the urethra is often the result of severe trauma to the pelvis – for example, in a car accident or as the result of a fall. Trauma can also result from catheter insertion (see CATHETERS) or the insertion of foreign bodies into the urethra. The signs are the inability to pass urine, and blood at the exit of the urethra. The major complication of trauma is the development of a urethral stricture (see below).

Urethritis is in?ammation of the urethra from infection.

Causes The sexually transmitted disease GONORRHOEA affects the urethra, mainly in men, and causes severe in?ammation and urethritis. Non-speci?c urethritis (NSU) is an in?ammation of the urethra caused by one of many di?erent micro-organisms including BACTERIA, YEAST and CHLAMYDIA.

Symptoms The classic signs and symptoms are a urethral discharge associated with urethral pain, particularly on micturition (passing urine), and DYSURIA.

Treatment This involves taking urethral swabs, culturing the causative organism and treating it with the appropriate antibiotic. The complications of urethritis include stricture formation.

Stricture This is an abrupt narrowing of the urethra at one or more places. Strictures can be a result of trauma or infection or a congenital abnormality from birth. Rarely, tumours can cause strictures.

Symptoms The usual presenting complaint is one of a slow urinary stream. Other symptoms include hesitancy of micturition, variable stream and terminal dribbling. Measurement of the urine ?ow rate may help in the diagnosis, but often strictures are detected during cystoscopy (see CYSTOSCOPE).

Treatment The traditional treatment was the periodic dilation of the strictures with ‘sounds’

– solid metal rods passed into the urethra. However, a more permanent solution is achieved by cutting the stricture with an endoscopic knife (optical urethrotomy). For more complicated long or multiple strictures, an open operation (urethroplasty) is required.... urethra, diseases of and injury to

A form of pneumonia that is caused by LEGIONELLA PNEUMOPHILA, a bacterium that breeds in warm, moist conditions. The source of infection is often an air-conditioning system in a large, public building.

The first symptoms include headache, muscular and abdominal pain, diarrhoea, and a dry cough.

Over the next few days, pneumonia develops, resulting in a high fever, shaking chills, coughing up of thick sputum (phlegm), drowsiness, and sometimes delirium.

Treatment is with the antibiotic drug erythromycin.... legionnaires’ disease

See pulmonary disease, chronic obstructive.... lung disease, chronic obstructive

The commonly used name for bovine spongiform encephalopathy (BSE).... mad cow disease

They may be local to the SKIN, or a manifestation of systemic disorders – inherited or acquired. Some major types are described below.

Others appear under their appropriate alphabetical headings: ACNE; ALBINISM; ALOPECIA; ALOPECIA AREATA; APHTHOUS ULCER; BASAL CELL CARCINOMA; BOILS (FURUNCULOSIS); BOWEN’S DISEASE; CALLOSITIES; CANDIDA; CHEILOSIS; CHEIRAPOMPHOLYX; DANDRUFF; DERMATOFIBROMA; DERMATOMYOSITIS; DERMATOPHYTES; DERMOGRAPHISM; ECTHYMA; ERYSIPELAS; ERYTHEMA; ERYTHRASMA; ERYTHRODERMA; ESCHAR; EXANTHEM; FUNGAL AND YEAST INFECTIONS; HAND, FOOT AND MOUTH DISEASE; HERPES GENITALIS; HERPES SIMPLEX; HERPES ZOSTER; IMPETIGO; INTERTRIGO; KELOID; KERATOSIS; LARVA MIGRANS; LICHEN; LUPUS; MADURA FOOT; MELANOMA; MILIARIA; MOLLUSCUM CONTAGIOSUM; MOLE; MYCOSIS FUNGOIDES; NAEVUS; ORF; PEDICULOSIS; PEMPHIGUS; PHOTOCHEMOTHERAPY; PHOTODERMATOSES; PITYRIASIS; PORPHYRIAS; PRURITUS; PSORIASIS; RINGWORM; ROSACEA; SARCOIDOSIS; SCABIES; SCLERODERMA; URTICARIA; VITILIGO; WARTS; XANTHOMATA.

Skin cancer Primary cancer is common and chronic exposure to ultraviolet light is the most important cause. BASAL CELL CARCINOMA is the most common form; squamous cell carcinoma is less common and presents as a growing, usually painless nodule which may ulcerate. Squamous cancer may spread to regional lymph glands and metastasise, unlike basal cell cancer. Occupational exposure to chemical carcinogens may cause squamous carcinoma – for example, cancer from pitch warts or the scrotal carcinoma of chimney sweeps exposed to coal dust in earlier centuries. Squamous carcinoma of the lip is associated with clay-pipe smoking.

Cancer may arise from the population of melanocytes of the skin (see MELANOCYTE; MELANOMA).

Apart from these three most frequent forms of skin cancer, various forms of cancer can arise from cells of the dermis, of which LYMPHOMA is the most important (see also MYCOSIS FUNGOIDES).

Lastly, secondary deposits from internal cancer, particularly from the breast, may metastasise to the skin.

Dermatitis and eczema These are broadly synonymous, and the terms are frequently interchangeable. Eczema is a pattern of in?ammation with many potential causes. Dermatitis is commonly used to suggest an eczema caused by external factors; it is a common pattern of in?ammation of the skin characterised by redness and swelling, vesiculation (see VESICLE), and scaling with intense itching and often exudation (weeping). Fissuring, thickening (licheni?cation – see LICHEN) and secondary bacterial infection may follow. Dermatitis can affect any part of the body. It may be genetically detemined or due to other ‘internal’ factors, such as venous HYPERTENSION in a leg, or stress. Often it is ‘external’ in origin – due to strong irritants or chemical allergens. (See also ALLERGY; ALLERGEN.) ATOPIC DERMATITIS is genetic in origin and usually begins in infancy. It may persist for years, and ASTHMA, allergic RHINITIS and conjunctivitis (see under EYE, DISORDERS OF) – ‘hay fever’ – may be associated. Atopic children tend to have multiple allergies, especially to inhaled allergens such as house-dust mite, cat and dog dander and pollens. Allergy to foods is less common but potentially more dangerous, especially if to nuts, when it can cause acute URTICARIA or even ANAPHYLAXIS. Atopic subjects are particularly prone to persistent and multiple verrucae (see WARTS) and mollusca (see MOLLUSCUM CONTAGIOSUM) and to severe HERPES SIMPLEX infections. (See also ATOPY.)

EXFOLIATE DERMATITIS (PITYRIASIS RUBRA)

Generalised exfoliation and scaling of the skin, commonly with ERYTHEMA. Drugs may cause it, or the disorder may be linked with other skin diseases such as benign dermatoses and lupus erythematosus (see under LUPUS). SUMMER POMPHOLYX is an acute vesicular eczema of the palms and soles recurring every summer. Inhaled allergens are a frequent cause. VENOUS (STASIS) DERMATITIS begins on a lower calf, often in association with PURPURA, swelling and sometimes ulceration. Chronic venous hypertension in the leg, consequent on valvular incompetence in the deep leg veins owing to previous deep vein thrombosis (see VEINS, DISEASES OF), is the usual cause. NEURODERMATITIS A pattern of well-de?ned plaques of licheni?ed eczema particularly seen on the neck, ulnar forearms or sides of the calves in subjects under emotional stress. IRRITANT CONTACT DERMATITIS Most often seen in an industrial setting (occupational dermatitis), it is due to damage by strong chemicals such as cutting oils, cement, detergents and solvents. In almost all cases the hands are most severely affected. ALLERGIC CONTACT DERMATITIS, in contrast, can affect any part of the body depending on the cause – for example, the face (cosmetics), hands (plants, occupational allergens) or soles (rubber boots). Particularly common allergens include metals (nickel and chromate), rubber addititives, and adhesives (epoxy resins).

Treatment Avoidance of irritants and contact allergens, liberal use of EMOLLIENTS, and topical application of corticosteroid creams and ointments (see CORTICOSTEROIDS) are central.... skin, diseases of

Mites are small animals, usually less than 1.2 mm, with 8 legs. Many species have piercing and blood-sucking mouthparts.

Species causing disorders include the scabies mite, which burrows in human skin causing intense itching; the housedust mite, which can cause asthma when inhaled in dust; and chiggers (American harvest mites), which are found in thick grass and cause an itchy rash when they bite. Mites in grain or fruit may cause skin irritation, sometimes known as grocers’ or bakers’ itch.Certain mites transmit diseases, particularly scrub typhus and rickettsial pox.... mites and disease

Painful enlargement and tenderness of the tibial tuberosity (the bony prominence of the tibia), which occurs most commonly in boys aged between 10 and 14. It results from excessive, repetitive pulling of the quadriceps muscle, due to repeated exercise. The disorder often clears up without treatment; severe pain may require physiotherapy or immobilization of the knee in a plaster cast.... osgood–schlatter disease

Scoliosis A condition where the spine is curved to one side (the spine is normally straight when seen from behind). The deformity may be mobile and reversible, or ?xed; if ?xed it is accompanied by vertebral rotation and does not disappear with changes in posture. Fixed scoliosis is idiopathic (of unknown cause) in 65–80 per cent of cases. There are three main types: the infantile type occurs in boys under three and in 90 per cent of cases resolves spontaneously; the juvenile type affects 4–9 year olds and tends to be progressive. The most common type is adolescent idiopathic scoliosis; girls are affected in 90 per cent of cases and the incidence is 4 per cent. Treatment may be conservative with a ?xed brace, or surgical fusion may be needed if the curve is greater than 45 degrees. Scoliosis can occur as a congenital condition and in neuromuscular diseases where there is muscle imbalance, such as in FRIEDREICH’S ATAXIA.

Kyphosis is a backward curvature of the spine causing a hump back. It may be postural and reversible in obese people and tall adolescent girls who stoop, but it may also be ?xed. Scheuermann’s disease is the term applied to adolescent kyphosis. It is more common in girls. Senile kyphosis occurs in elderly people who probably have osteoporosis (bone weakening) and vertebral collapse.

Disc degeneration is a normal consequence of AGEING. The disc loses its resiliance and becomes unable to withstand pressure. Rupture (prolapse) of the disc may occur with physical stress. The disc between the fourth and ?fth lumbar vertebrae is most commonly involved. The jelly-like central nucleus pulposus is usually pushed out backwards, forcing the annulus ?brosus to put pressure on the nerves as they leave the spinal canal. (See PROLAPSED INTERVERTEBRAL DISC.)

Ankylosing spondylitis is an arthritic disorder of the spine in young adults, mostly men. It is a familial condition which starts with lumbar pain and sti?ness which progresses to involve the whole spine. The discs and ligaments are replaced by ?brous tissue, making the spine rigid. Treatment is physiotherapy and anti-in?ammatory drugs to try to keep the spine supple for as long as possible.

A National Association for Ankylosing Spondylitis has been formed which is open to those with the disease, their families, friends and doctors.

Spondylosis is a term which covers disc degeneration and joint degeneration in the back. OSTEOARTHRITIS is usually implicated. Pain is commonly felt in the neck and lumbar regions and in these areas the joints may become unstable. This may put pressure on the nerves leaving the spinal canal, and in the lumbar region, pain is generally felt in the distribution of the sciatic nerve – down the back of the leg. In the neck the pain may be felt down the arm. Treatment is physiotherapy; often a neck collar or lumbar support helps. Rarely surgery is needed to remove the pressure from the nerves.

Spondylolisthesis means that the spine is shifted forward. This is nearly always in the lower lumbar region and may be familial, or due to degeneration in the joints. Pressure may be put on the cauda equina. The usual complaint is of pain after exercise. Treatment is bed rest in a bad attack with surgery indicated only if there are worrying signs of cord compression.

Spinal stenosis is due to a narrowing of the spinal canal which means that the nerves become squashed together. This causes numbness with pins and needles (paraesthia) in the legs. COMPUTED TOMOGRAPHY and nuclear magnetic resonance imaging scans can show the amount of cord compression. If improving posture does not help, surgical decompression may be needed.

Whiplash injuries occur to the neck, usually as the result of a car accident when the head and neck are thrown backwards and then forwards rapidly. This causes pain and sti?ness in the neck; the arm and shoulder may feel numb. Often a support collar relieves the pain but recovery commonly takes between 18 months to three years.

Transection of the cord occurs usually as a result of trauma when the vertebral column protecting the spinal cord is fractured and becomes unstable. The cord may be concussed or it may have become sheared by the trauma and not recover (transected). Spinal concussion usually recovers after 12 hours. If the cord is transected the patient remains paralysed. (See PARALYSIS.)... spine and spinal cord, diseases and injuries of

Winter vomiting disease, or epidemic nausea and vomiting, is a condition caused by subtypes of the genus Norwalk-like virus and is characterised by nausea, vomiting, diarrhoea and giddiness, which occurs during the winter. Outbreaks of it usually involve whole families or may affect communities like schools. The incubation period is 24–48 hours, and attacks seldom persist for more than 72 hours. In England and Wales in 2000, more than 1,600 infections were reported compared to more than 16,400 cases of salmonella infections and 56,420 of CAMPYLOBACTER. However, in England it is estimated that around 1,500 times more people are infected in the community than are reported. Humans are the only known hosts of the virus and infection can be acquired via contaminated food or water or, more commonly, from an infected individual via the faeco-oral route, aerosol-spread and FOMITES.... winter vomiting disease

A rare type of breast cancer in which a tumour develops in the nipple.

The disease resembles eczema and can cause itching and a burning feeling.

A non-healing sore may develop.

Without treatment, the tumour may spread into the breast.

Diagnosis is made with a biopsy.... paget’s disease of the nipple

Inflammation of an epiphysis of the head of the femur.

The disease is a type of osteochondritis juvenilis, thought to be due to disrupted blood supply to the bone.

The condition is most common in boys aged 5–10, and usually affects 1 hip.

Symptoms include pain in the thigh and groin, and a limp on the affected side.

Diagnosis is made with X-rays.

Treatment may be rest for a few weeks, followed by splinting of the hip, or surgery.

The disease usually clears up by itself within 3 years, but the hip may be permanently deformed.... perthes’ disease

Diseases of the URINARY BLADDER are diagnosed by the patient’s symptoms and signs, examination of the URINE, and using investigations such as X-RAYS and ULTRASOUND scans. The interior of the bladder can be examined using a cystoscope, which is a ?breoptic endoscope (see FIBREOPTIC ENDOSCOPY) that is passed into the bladder via the URETHRA.

Cystitis Most cases of cystitis are caused by bacteria which have spread from the bowel, especially Escherichia coli, and entered the bladder via the urethra. Females are more prone to cystitis than are males, owing to their shorter urethra which allows easier entry for bacteria. Chronic or recurrent cystitis may result in infection spreading up the ureter to the kidney (see KIDNEY, DISEASES OF).

Symptoms Typically there is frequency and urgency of MICTURITION, with stinging and burning on passing urine (dysuria), which is often smelly or bloodstained. In severe infection patients develop fever and rigors, or loin pain. Before starting treatment a urine sample should be obtained for laboratory testing, including identi?cation of the invading bacteria.

Treatment This includes an increased ?uid intake, ANALGESICS, doses of potassium citrate to make the urine alkaline to discourage bacterial growth, and an appropriate course of ANTIBIOTICS once a urine sample has been ana-lysed in the laboratory to con?rm the diagnosis and determine what antibiotics the causative organism is likely to respond to.

Stone or calculus The usual reason for the formation of a bladder stone is an obstruction to the bladder out?ow, which results in stagnant residual urine – ideal conditions for the crystallisation of the chemicals that form stones – or from long-term indwelling CATHETERS which weaken the natural mechanical protection against bacterial entry and, by bruising the lining tissues, encourage infection.

Symptoms The classic symptom is a stoppage in the ?ow of urine during urination, associated with severe pain and the passage of blood.

Treatment This involves surgical removal of the stone either endoscopically (litholapaxy); by passing a cystoscope into the bladder via the urethra and breaking the stone; or by LITHOTRIPSY in which the stone (or stones) is destroyed by applying ultrasonic shock waves. If the stone cannot be destroyed by these methods, the bladder is opened and the stone removed (cystolithotomy).

Cancer Cancer of the bladder accounts for 7 per cent of all cancers in men and 2·5 per cent in women. The incidence increases with age, with smoking and with exposure to the industrial chemicals, beta-napththylamine and benzidine. In 2003, 2,884 men and 1,507 women died of bladder cancer in England and Wales.

Symptoms The classical presenting symptom of a bladder cancer is the painless passing of blood in the urine – haematuria. All patients with haematuria must be investigated with an X-ray of their kidneys, an INTRAVENOUS PYELOGRAM (UROGRAM) and a cystoscopy.

Treatment Super?cial bladder tumours on the lining of the bladder can be treated by local removal via the cystoscope using DIATHERMY (cystodiathermy). Invasive cancers into the bladder muscle are usually treated with RADIOTHERAPY, systemic CHEMOTHERAPY or surgical removal of the bladder (cystectomy). Local chemotherapy may be useful in some patients with multiple small tumours.... urinary bladder, diseases of

A group of diseases of the central nervous system that occur many months or even years after infection with a virus. They cause gradual widespread destruction of nerve tissue, with progressive loss of brain function and a fatal outcome. Examples include Creutzfeldt–Jakob disease and kuru.... slow virus diseases

Snails act as host to various types of fluke that infest humans, such as liver flukes.... snails and disease

A serious inherited metabolic disorder (see metabolism, inborn errors of) that causes premature death. The cause is deficiency of the enzyme hexosaminidase A, which results in a buildup in the brain of a harmful substance. Symptoms usually appear after age 6 months and include blindness, paralysis, and seizures leading to death. Diagnosis is made by enzyme analysis of white blood cells. It is now largely prevented by genetic.... tay–sachs disease

A defect of 1 or more of the heart valves.... valvular heart disease

A severe form of gingivitis in which bacterial infection causes painful ulceration of the gums.

(See also gingivitis, acute ulcerative.)... vincent’s disease

Veins are the blood vessels that convey blood back from the tissues towards the heart. Two common conditions that affect them are THROMBOSIS and varicosities (see below).

Varicose veins are dilated tortuous veins occurring in about 15 per cent of adults – women more than men. They most commonly occur in the legs but may also occur in the anal canal (HAEMORRHOIDS) and in the oesophagus (due to liver disease).

Normally blood ?ows from the subcutaneous tissues to the super?cial veins which drain via perforating veins into the deep veins of the leg. This ?ow, back towards the heart, is aided by valves within the veins. When these valves fail, increased pressure is exerted on the blood vessels leading to dilatations known as varicose veins.

Treatment is needed to prevent complications such as ulceration and bleeding, or for

cosmetic purposes. Treatment alternatives include injection with sclerosing agents to obliterate the lumen of the veins (sclerotherapy), or surgery; in the elderly or un?t, an elastic stocking may su?ce. One operation is the Trendelenburg operation in which the saphenous vein is disconnected from the femoral vein and individual varicose veins are avulsed. (See also VASCULITIS.)

Thrombosis Thrombosis occurs when blood, which is normally a liquid, clots within the vein to form a semisolid thrombus (clot). This occurs through a combination of reduced blood ?ow and hypercoagulability (a reduced threshold for clotting). The most common site for this to occur is in the deep veins of the leg, where it is known as a deep-vein thrombosis (DVT).

Predisposing factors include immobility (leading to reduced blood ?ow), such as during long journeys (e.g. plane ?ights) where there is little opportunity to stretch one’s legs; surgery (leading to temporary post-operative immobility and hypercoagulability of blood); oestrogen administration (low-dose oestrogen oral contraceptives carry a very low relative risk); and several medical illnesses such as heart failure, stroke and malignancy.

Deep-vein thrombosis presents as a tender, warm, red swelling of the calf. Diagnosis may be con?rmed by venogram (an X-ray taken following injection of contrast medium into the foot veins) or by ultrasound scanning looking for ?ow within the veins.

Prevention is important. This is why patients are mobilised and/or given leg exercises very soon after an operation, even major surgery. People should avoid sitting for long periods, particularly if the edge of the seat is hard, thus impeding venous return from the legs. Car drivers should stop regularly on a long journey and walk around; airline travellers should, where possible, walk round the aisle(s) and also exercise and massage their leg muscles, as well as drinking ample non-alcoholic ?uids.

Diagnosis and treatment are important because there is a risk that the clotted blood within the vein becomes dislodged and travels up the venous system to become lodged in the pulmonary arteries. This is known as PULMONARY EMBOLISM.

Treatment is directed at thinning the blood with ANTICOAGULANTS, initially with heparin and subsequently with WARFARIN for a period of time while the clot resolves.

Blocked super?cial veins are described as super?cial thrombophlebitis, which produces in?ammation over the vein. It responds to antiin?ammatory analgesics. Occasionally heparin and ANTIBIOTICS are required to treat associated thrombosis and infection.... veins, diseases of

Ulceration of the mouth and genitals, with iritis. Hippocrates wrote of it as one of the epidemics of Ancient Greece. Prof Behcot, himself, believed it to be due to a virus. Afflicted age group: 30s-40s.

Symptoms. Vulva or penis swollen and itching. Neuritis of the eye with possible ensuing blindness. A specific disease unrelated to herpes simplex which it resembles. There is no evidence that it is venereal. Basic pathology is inflammation of the veins, arteries and capillaries (Nettles). Thrombosis is possible (Hawthorn).

Treatment. Tea. (1) Nettles. Or (2): place half an ounce Burdock root in 1 pint water; simmer gently 20 minutes: Add 1oz Nettles. Allow to steep for further 15 minutes. Dose: 1 cup thrice daily.

Tablets/capsules. Kelp, Echinacea, Blue Flag.

Tinctures. Combine Echinacea 2; Goldenseal three-quarters; Myrrh quarter. Dose: 1-2 teaspoons in water thrice daily.

Practitioner. Tincture Colchicum BP 1973.

Topical. Bathe with dilute cider vinegar. Cold tea. Garlic ointment. Tea Tree oil diluted many times. Houseleek.

Eyedrops. Goldenseal eyedrops.

Diet. Avoid hot peppery foods, fried foods.

Low-salt. Regular raw food days.

Supplementation. Vitamin E: 500-1000iu daily. Vitamin B-complex. Calcium and Magnesium. Avoid: scented soap, talcum powder, wool (alternatives: cotton briefs, open gusset tights). Information: Bechet’s Syndrome Society, 3 Belgrave Street, Haxby Road, York Y03 7YY. ... bechet’s disease

A very rare inherited disorder of the nervous system that affects infants. Also known as infantile spinal muscular atrophy, Werdnig–Hoffmann disease is a type of motor neuron disease, affecting the nerve cells in the spinal cord that control muscle movement.

Marked floppiness and paralysis occur during the first few months, and affected children rarely survive beyond age 3.

There is no cure for the disease. Treatment aims to keep the affected infant as comfortable as possible.... werdnig–hoffmann disease

Glomerulonephritis. Recognised by slight puffiness of the eyes and a dropsical accumulation of fluid in body cavities. Blood pressure rises. Appetite disappears. Digestion is deranged, urine may be blood-stained and a variety of symptoms present as dizziness, headache, nausea. Commonly caused by post streptococcal throat infection circulating in the blood, yet it is now known that the condition may arise from exposure to common garden insecticides and toxic substances of commercial importance that alter the body’s immune system and affect kidney function.

Acute toxic nephritis is possible in the convalescent stage of scarlet and other infectious fevers, even influenza. Causes are legion, including septic conditions in the ear, nose, throat, tonsils, teeth or elsewhere. Resistance to other infections will be low because of accumulation of toxins awaiting elimination. When protein escapes from the body through faulty kidneys general health suffers.

This condition should be treated by or in liaison with a qualified medical practitioner.

Treatment. Bedrest essential, with electric blanket or hot water bottle. Attention to bowels; a timely laxative also assists elimination of excessive fluid. Diuretics. Diaphoretics. Abundant drinks of bottled water or herb teas (3-5 pints daily). Alkaline drinks have a healing effect upon the kidneys. Juniper is never given for active inflammation.

Useful teas. Buchu, Cornsilk, Couchgrass, Clivers, Bearberry, Elderflowers, Marshmallow, Mullein, Marigold flowers, Wild Carrot, Yarrow.

Greece: traditional tea: equal parts, Agrimony, Bearberry, Couchgrass, Pellitory.

Powders. Equal parts: Dandelion, Cornsilk, Mullein. Dose: 750mg (three 00 capsules or half teaspoon) every 2 hours. In water or cup of Cornsilk tea.

Tinctures. Equal parts: Buchu, Elderflowers, Yarrow. Mix. Dose: 1-2 teaspoons in water or cup of Cornsilk tea, every two hours.

Topical. Hot poultices to small of the back; flannel or other suitable material saturated with an infusion of Elderflowers, Goldenrod, Horsetail or Yarrow. Herbal treatment offers a supportive role. ... bright’s disease (acute)

see osteopetrosis. [H. E. Albers-Schönberg (1865–1921), German radiologist]... albers-schönberg disease

see Fabry disease.... anderson–fabry disease

any one of a variety of conditions involving the *pleura, but not the lungs (see asbestosis), in subjects exposed to asbestos. These include the formation of pleural plaques, diffuse pleural thickening, and pleural effusions (see oedema).... asbestos-related pleural disease

An abnormal reaction of the body to groups of its own cells which the immune system attacks. In a case of anaemia, it may destroy the red blood cells. Failure of the body’s tolerance mechanism.

The immune system is the body’s internal defence armoury which protects from sickness and disease. White blood cells are influenced by the thymus gland and bone marrow to become “T” lymphocytes or “B” lymphocytes which absorb and destroy bacteria. There are times when these powerful defence components inflame and attack healthy tissue, giving rise to auto immune disease which may manifest as one of the numerous anaemic, rheumatic or nervous disorders, even cancer.

A watchful eye should be kept on any sub-acute, non-specific inflammation going on quietly over a long period – a certain indication of immune-inadequacy. It would appear that some unknown body intelligence operates behind the performance of the immune system; emotional and physic stresses such as divorce or job dissatisfaction can lead to a run-down of body defences. Some psychiatrists believe it to be a self-produced phenomenon due to an unresolved sense of guilt or a dislike of self. When this happens, bacterial, virus or fungus infections may invade and spread with little effective opposition. People who are happy at their home and work usually enjoy a robust immune system.

An overactive immune system may develop arthritis with painful joint inflammation, especially with a background of a fat-rich diet. A link between silicone implants and auto-immune disease is suspected.

“There is increasing evidence,” writes Dr D. Addy, Consulting Pediatrician, “that fevers may enhance the defence mechanism against infection.” (See: FEVER) “There is also increasing evidence of a weakening of the immune system through suppression of fevers by modern drugs. In this way, aspirin and other powerful anti-inflammatories may be responsible for feeble immune response.”

White cell stimulators: Liquorice, Ginseng (Siberian), Goldenseal, Echinacea. These increase ability of white blood cells to attack bacteria and invading cells. Chinese medicine: Ginseng (men), Chinese Angelica (women).

Treatment. To strengthen body defences. Garlic, Borage, Comfrey, Agrimony, Balm, Chamomile (German), Echinacea, Horsetail, Liquorice, Lapacho, Sage, Wild Yam, Wild Indigo, Poke root, Thuja. Shiitake Mushroom. Reishi Mushroom, Chlorella..

Tea. Combine, equal parts, St John’s Wort, Borage, Chamomile (German). 1 heaped teaspoon to each cup boiling water; infuse 15 minutes. 1 cup thrice daily.

Powders. Combine, Echinacea 4; Comfrey root 2; Wild Yam 1. 500mg (two 00 capsules, or one-third teaspoon) thrice daily.

Tinctures. Combine, Echinacea 4; Poke root 1; Thuja 1. 1-2 teaspoons in water thrice daily.

Tincture: Tincture Myrrh BPC 1973: 5-10 drops in water, morning and evening.

Decoctions. Horse-radish. Fenugreek seeds.

Bio-strath. Yeast-based herbal tonic. Exerts a positive influence on the immune system by rapid and marked increase in white blood cells.

Diet. Foods rich in essential fatty acids: nuts, seeds, beans, pulses, Evening Primrose oil, Cod Liver oil flavoured with mint or lemon. High protein: eggs, fish. (Low protein – acute stage). Foods rich in selenium. Yoghurt, cider vinegar, pineapple juice. Sugar has an immune suppressing effect.

Supplements. To rebuild immune system. Vitamins A, B5, B6, C, D, E. Zinc is required to produce histamine which is a vasodilator. Combination: zinc, selenium and GLA. Iron. Calcium.

Aromatherapy. Lavender oil: massage or baths.

Note: An alleged link exists between silicone implants and auto-immune disease. A new study reveals evidence that women with silicone breast implants who breast-feed their children put them at risk of developing systemic sclerosis. (JAMA Jan 19 1994) ... auto immune disease

a disease associated with diffuse atherosclerosis and sloughing of atheromatous plaques in the aorta and main renal arteries. This results in occlusion of smaller arteries and arterioles downstream within the kidney, with ischaemic and inflammatory reactions. This leads to the onset of renal impairment. Precipitating factors include invasive procedures with aortic cannulae, vascular surgery, and therapy with thrombolytics or anticoagulants. Less commonly the condition can occur spontaneously.... atheroembolic renal disease

one of a number of otherwise unrelated disorders caused by inflammation and destruction of tissues by the body’s own *immune response. These disorders include acquired haemolytic anaemia, pernicious anaemia, rheumatic fever, rheumatoid arthritis, glomerulonephritis, systemic lupus erythematosus, myasthenia gravis, Sjögren’s syndrome, and several forms of thyroid dysfunction, including Hashimoto’s disease. It is not known why the body should lose the ability to distinguish between substances that are ‘self’ and those that are ‘non-self’.... autoimmune disease

one of a group of rare hereditary disorders (known as the neuronal ceroid lipofuscinoses) that also includes *Tay-Sachs disease. Fatty substances accumulate in the cells of the nervous system, causing progressive dementia, epilepsy, spasticity, and visual failure. The condition starts in late infancy or childhood. There is no treatment. [F. E. Batten (1865–1918), British neurologist]... batten’s disease

Chronic glomerulonephritis. The final stage. May follow the sub- acute stage or repeated attacks of the acute stage. Kidneys small and white due to scar tissue. Amount of urine passed is considerably increased, pale and low specific gravity. Kidneys ‘leak’ protein in large quantities of water passed, their efficiency as filters greatly impaired. Tissues of eyelids and ankles waterlogged. Symptoms include loin pain, anaemia, loss of weight, progressive kidney damage.

A constant fear is the onset of uraemia caused by accumulation in the blood of waste by-products of protein digestion, therefore the patient should reject meat in favour of fish. Eggs and dairy products taken in strict moderation.

Where urea accumulates in the circulation ‘sustaining’ diuretics are indicated; these favour excretion of solids without forcing the discharge of more urine: including Shepherd’s Purse, Gravel root, or Uva Ursi when an astringent diuretic is needed for a show of blood in the urine. According to the case, other agents in common practice: Dandelion root, Yarrow, Hawthorn, Marigold, Stone root, Hydrangea. Parsley Piert, Buchu, Hawthorn, Golden Rod.

The patient will feel the cold intensely and always be tired. Warm clothing and ample rest are essential. Heart symptoms require treatment with Lily of the Valley or Broom.

This condition should be treated by or in liaison with a qualified medical practitioner.

Treatment. As kidney damage would be established, treatment would be palliative; efforts being to relieve strain and obtain maximum efficiency. There may be days of total bed-rest, raw foods and quiet. Consumption of fluids may not be as abundant as formerly. Soothing herb teas promote well-being and facilitate elimination. Oil of Juniper is avoided.

Efforts should be made to promote a rapid absorption – to restore the balance between the circulation and the lymphatics. For this purpose Mullein is effective. A few grains of Cayenne or drops of Tincture Capsicum enhances action.

Indicated. Antimicrobials, urinary antiseptics, diuretics, anti-hypertensives. For septic conditions add Echinacea.

Of Therapeutic Value. Alfalfa, Broom, Buchu, Couchgrass, Cornsilk, Dandelion, Lime flowers, Marigold, Mullein, Marshmallow, Parsley Piert, Periwinkle (major), Wild Carrot, Water Melon seed tea. Tea. Combine equal parts: Couchgrass, Dandelion, Mullein. 2 teaspoons to each cup boiling water. Infuse 5-15 minutes. 1 cup freely.

Powders. Combine equal parts: Stone root, Hydrangea, Hawthorn. Dose: 500mg (two 00 capsules or one-third teaspoon) 3 or more times daily in water or cup Cornsilk tea. A few grains Cayenne enhances action. Formula. Buchu 2; Mullein 2; Echinacea 1; Senna leaves half. Mix. Liquid extracts: 1 teaspoon. Tinctures: 2 teaspoons. In water or cup Cornsilk tea 3 or more times daily. 2-3 drops Tincture Capsicum to each dose enhances action.

Diffusive stimulant for the lymphatic vessels. Onion milk is an effective potassium-conserving diuretic and diaphoretic. Onions are simmered gently in milk for 2 hours and drunk when thirsty or as desired – a welcome alternative to water. May be eaten uncooked.

Diet. Salt-free, low fat, high protein. Spring water. Raw goat’s milk, potassium broth. Fish oils. Avoid eggs and dairy products. No alcohol.

Supplements. Vitamins A, B-complex, C plus bioflavonoids, B6, D, E, Magnesium, Lecithin. Herbal treatment offers a supportive role. ... bright’s disease (chronic)

Neurogenic arthritis. A degenerative and destructive joint lesion due to loss of the normal protection and pain sense. It is associated with tabes dorsalis and syringomyelia. In tabes, knee is chiefly affected; in syringomyelia, the elbow. Joint swelling in late locomotor ataxia. Usually painless.

Alternatives. Cramp bark, Cayenne, Chamomile, Guaiacum, Hops, Meadowsweet, Celery, Prickly Ash, Valerian, Wild Lettuce, Wild Yam. Mistletoe (F. Hyde). White Willow.

Tea. Equal parts: German Chamomile, Hops, Meadowsweet. 1 heaped teaspoon to each cup boiling water; infuse 5-10 minutes; 1 cup 3 or more times daily.

Tablets/capsules. Chamomile, Mistletoe, Prickly Ash, Ligvites, Wild Yam, Valerian, Kelp.

Alternative formulae:– Powders. Prickly Ash 1; Valerian 1; Cramp bark half; Guaiacum quarter. Mix. Dose: 500mg (two 00 capsules or one-third teaspoon) thrice daily.

Liquid Extracts. White Willow 2; Prickly Ash 1; Celery seeds half; Liquorice quarter; Tincture Capsicum quarter. Mix. 30-60 drops thrice daily.

Tinctures. White Willow 2; Prickly Ash 1; Valerian 1; Meadowsweet 1; Tincture Capsicum quarter. Mix. 2 teaspoons thrice daily.

Topical. Comfrey poultices (Maria Treben). “Three oils.”

Diet. Lacto-vegetarian. Dandelion coffee. Oily fish.

General. Straight knee brace for rigid support. ... charcot’s disease

a rare disease of young women in which tender nodules develop under the skin in the calves. The condition is a *tuberculide; the nodules may break down and ulcerate though they may clear up spontaneously. Medical name: erythema induratum. [A. P. E. Bazin (1807–78), French dermatologist]... bazin’s disease

see vitelliform degeneration. [F. Best (20th century), German physician]... best’s disease

see abasia.... blocq’s disease

a condition causing *bow-legs as a result of abnormal growth at the *epiphysis at the top of the tibia (shin bone). It is more common in Africans and is most noticeable in childhood. The condition may affect one or both legs, and affected children are often obese. Treatment depends upon the severity and the age of the child but usually involves surgery. [W. P. Blount (1900–92), US orthopaedic surgeon]... blount disease

see sarcoidosis. [C. P. M. Boeck (1845–1913), Norwegian dermatologist]... boeck’s disease

see tuberous sclerosis. [D.-M. Bourneville (1840–1909), French neurologist]... bourneville’s disease

see hyperostosis. [J. Caffey (1895–1966), US paediatrician]... caffey’s disease

Disorders that destroy myelin, a fatty substance which forms a sheath round nerve fibres and appears in the central nervous system. A typical example is multiple sclerosis.

Essential fatty acids have an important role in the function of the nervous system, being closely related to the fatty (myelin) sheath and cell membranes. Disturbance in their metabolism may result in nerve disorder. Thus, vegetable oils of Soya, corn, safflower and sunflower should replace animal fats and dairy products.

Symptoms. Numb, prickling, tickling sensation on the skin, paralysis, incoordination, physical weakness and visual complaints.

Treatment. Indeterminate diagnosis.

Tablets/capsules. Prickly Ash, Black Cohosh, Ginseng, Ginkgo.

Powders, Liquid Extracts, Tinctures. Formula. Equal parts: Black Cohosh, Prickly Ash, Ginseng. Doses. Powders: two 00 capsules or one-third teaspoon, (500mg). Liquid Extracts: 1 teaspoon. Tinctures: 2 teaspoons. In water, honey or fruit juice.

Evening Primrose oil capsules or tablets: two 500mg thrice daily.

Aromatherapy. Rosemary spinal rub: 6 drops Oil Rosemary in 2 teaspoons Almond oil.

Diet. High protein, low fat, oily fish or 2 teaspoons Cod Liver oil daily. Gluten-free diet. Cholesterol- free – avoid milk, meat fat and dairy products. Avoid coffee and other caffeine stimulants. Dandelion coffee.

Supplements. B-complex, B3, B6, B12, C, E. Dolomite, Manganese, Zinc. ... demyelinating diseases

a condition in which calcium pyrophosphate is deposited in joints. The most common manifestation is *pseudogout, marked by acute pain, redness, and swelling resembling gout. Alternatively it may be asymptomatic in association with *chondrocalcinosis seen on X-ray, it may occur with osteoarthritis in the affected joint, or there may be chronic inflammation of the joint.... calcium pyrophosphate deposition disease

an inherited condition in which the bile ducts, which drain the liver, are widened, causing an increased risk of infection or cancer in the gall bladder. Compare Caroli’s syndrome. [J. Caroli (20th century), French physician]... caroli’s disease

an infectious disease caused by the bacterium *Bartonella henselae, which infects cats and is transmitted to humans by a cat scratch or bite. A papule or pustule develops at the site of the injury followed, a week to two months after infection, by swelling of the lymph nodes (usually those closest to the wound). Fever and malaise are common. The condition usually resolves without treatment but antibiotics may be given to prevent complications.... cat-scratch disease

Most lumps are harmless, including cysts (adenosis) and benign tumours. Not forerunners of cancer. Largely due to hormone imbalance. Fluid may be aspirated from a cyst. Thickened patches of fibrous tissue are freely movable and occur chiefly during years of menstruation depending upon the presence of oestrogen. An accurate diagnosis is necessary by a competent authority. Excessive sugar consumption suspected.

Prominent cyst formations have been reduced, even eliminated by Poke root, internally and externally, though surgery is sometimes indicated. Diuretics influence the kidneys to expel more body fluids and are sometimes helpful to reduce size. Cold water packs may be applied to the affected area two or more times daily, as practical.

Alternatives. Tea. Formula. Equal parts: Ground Ivy, Clivers, Horsetail. One heaped teaspoon to each cup boiling water; infuse 15 minutes. 1 cup morning and evening.

Poke root. Tablets, powders. Tincture. 5-10 drops in water 3 times daily.

Evening Primrose oil. Two 500mg capsules, 3 times daily. Trials carried out by departments of Surgery at the University of Wales and the University of Dundee found Evening Primrose oil effective and safe. Poultice. Poke root. Horsetail.

Diet. As salt favours retention of fluid in cystic tissue it should be restricted.

Supplements. Daily. Beta carotene; B-complex; B6, Vitamin C 1g; Zinc. Vitamin E contra-indicated.

Treatment by or in liaison with a general medical practitioner. ... fibrocystic breast disease (fbd)

(peroneal muscular atrophy) a group of inherited diseases of the peripheral nerves, also known as hereditary sensorimotor neuropathy, causing a gradually progressive weakness and wasting of the muscles of the legs and the lower part of the thighs. The hands and arms are eventually affected. The genetic defect responsible for the most common form, type Ia, is a duplication on chromosome 17. The diagnosis is made by nerve conduction tests followed by genetic blood tests. [J. M. Charcot; P. Marie (1853–1940), French physician; H. H. Tooth (1856–1925), British physician]... charcot–marie–tooth disease

a congenital anomaly of the blood vessels of the retina, which are abnormally dilated and leaking. This results in subretinal haemorrhage and exudative *retinal detachment. [G. Coats (1876–1915), British ophthalmologist]... coats’ disease

an obsolete term for *connective-tissue disease.... collagen disease

the control of disease due to infectious agents or their toxic products. See Consultant in Health Protection.... communicable disease control

Necrotising fasciitis, in which flesh and muscle are destroyed at a rate of inches an hour. Can spring from a range of streptococcal bacteria of which there are over 80 sub-types.

It seems that this common bacteria, in some unknown way, receives a booster by taking on viral DNA. Lungs, liver and stomach may be attacked, while red blood cells are disrupted and their haemoglobin released. Among other conditions caused by streptococcus is the bright red rash of scarlet fever, sinusitis, meningitis and rheumatic fever. Flesh-eater disease may take just twenty hours to kill a man (“galloping gangrene”).

Symptoms. High temperature – body hot, hands and feet freezing cold. ‘Strep’ sore throat (pharyngitis). Bright red skin rash. Pains in arms and legs as if straining a muscle.

Treatment. The disease is resistant to penicillin. Frequent hot lemon drinks well-laced with honey. Tinctures. Echinacea 2; Goldenseal 1; Myrrh half. Dose: 10-20 drops in dessertspoon water or honey, hourly, acute cases.

Treatment by or in liaison with medical practitioner or infectious diseases specialist. ... flesh-eating disease

Adult coeliac disease, coeliac sprue, non-tropical sprue, idiopathic steatorrhoea. Allergy to gluten which disturbs the small intestine by preventing the body from absorbing food nutrients. A child’s condition may worsen when put on solid cereals containing wheat, barley, rye or oats. “Allergic to pasta” disease. A change in the mucous membrane of the intestines with enzyme deficiency.

Symptoms: diarrhoea, abdominal swelling and pain, irritability, inability to gain weight, neuritis, ulcers on tongue and mouth, low blood pressure, debility, lactase-deficiency. Breast-feeding stops coeliac disease.

Alternatives. Tea. Mix, equal parts: Raspberry leaves, Agrimony, Lemon Balm. 2 teaspoons to each cup boiling water; infuse 15 minutes. 1 cup freely.

Tablets/capsules. Goldenseal, Slippery Elm. Calamus. Fenugreek seeds, Papaya. Wild Yam.

Powders, Liquid Extracts, Tinctures. Formula. Equal parts: Sarsaparilla, Wild Yam, Stone root. Dose. Powders: 500mg (two 00 capsules or one-third teaspoon). Liquid Extracts: 30-60 drops. Tinctures: 1-2 teaspoons. In water, banana mash or honey, thrice daily.

Papaya (papain) digests wheat gluten and assists recovery. Half-1g with meals.

Aloe Vera juice. Promotes improved bowel motility, increases stool specific gravity, and reduces indication of protein putrefaction, flatulence and bloating after meals. (J. Bland PhD. JAM June 1985, p.11)

Topical. Warm hip baths of Lemon Balm, Chamomile, etc. (Alfred Vogel)

Diet. Gluten-free. Rice. Unpasteurised yoghurt. Buttermilk. Sweet acidophilus milk. Raw carrot juice. Bananas mashed with a little Slippery Elm or dried milk powder, carob bean powder and Soya milk. Supplementation. Vitamins A, B-complex, B6, B12, Folic acid, C, D, E, K (Alfalfa tea). Calcium, Iron and Magnesium orotates. ... gluten-sensitive disease

Severe disease of the newly born and infants with jaundice and anaemia. Occurs when a Rhesus negative mother gives birth to a Rhesus positive child. There may be degeneration of nerve cells of the brain through circulating bile. Followed by water-logging of tissues lining lungs, abdomen or heart (hydrops).

Treatment. Purpose of medication is to stimulate flow of bile and support the liver.

Arthur Hyde, MNIMH recommends a selection from the following according to individual case: Balmony, Barberry, Dandelion, Goldenseal, Hops, Ladyslipper, Mistletoe, Passion flower, Stone root. Tinctures. Formula. Marigold 2; Barberry 2; Ginkgo 1. Dose: 2 drops in feed, or in water, thrice daily. Infants 3-5 years: 10 drops.

To be treated by or in liaison with a qualified medical practitioner. ... haemolytic disease of infants

any one of a group of diseases that are characterized by inflammatory changes in connective tissue and can affect virtually any body system. Formerly known as collagen diseases (connective-tissue disease has been the preferred term since 1978), they include *dermatomyositis, systemic and discoid *lupus erythematosus, *morphoea, *polyarteritis nodosa, and *rheumatoid arthritis.... connective-tissue disease

a disorder characterized by a combination of *parkinsonism and *dementia, which typically fluctuates. Visual hallucinations are common, and there is exquisite sensitivity to phenothiazine drugs. Abnormal proteins called Lewy bodies are found within the nerve cells of the cortex and the basal ganglia. It is the third most common cause of dementia (dementia with Lewy bodies) after *Alzheimer’s disease and vascular dementia.... cortical lewy body disease

any disease caused by the lack of an essential nutrient in the diet. Such nutrients include *vitamins, minerals, *essential amino acids, and *essential fatty acids.... deficiency disease

see mesangiocapillary glomerulonephritis.... dense deposit disease

see neuromyelitis optica. [E. Devic (1869–1930), French physician]... devic’s disease

(DMARD) any of various drugs used in the treatment of rheumatic disease: they affect the progression of the disease by suppressing the disease process. DMARDs include drugs affecting the immune response (immunomodulators), such as *immunosuppressants (e.g. methotrexate) and *cytokine inhibitors; *gold salts; *penicillamine; *sulfasalazine; and *hydroxychloroquine.... disease-modifying antirheumatic drug

Non-contagious acute infection affecting the mucous membrane of the lungs. A form of pneumonia, caused by the organism Legionella pneumophilla.

Onset: 2-10 days.

Sources of infection: water-cooling and air-conditioning plants, Aerosols.

Usually attacks those with existing lung weakness. Those with low natural resistance and smokers are most at risk. Epidemic or single cases. Diagnosis confirmed by Haematological laboratory.

Symptoms. High body temperature (above 39°C). Rigor. Shivering. Diarrhoea. Dry cough. Bleeding from stomach and intestines. Mental confusion. Chest pains, shortness of breath, occasional diarrhoea. Differential diagnosis. Glandular fever. Other forms of pneumonia.

Indicated: anti-microbials and expectorants.

Treatment. Formula. Pleurisy root 2; Echinacea root 2; Grindelia quarter. Dose – Powders: 500mg (two 00 capsules or one-third teaspoon). Liquid extracts: one 5ml teaspoon. Tinctures: two 5ml teaspoons. Every 3 hours. Take together with:–

Fenugreek tea. 2 heaped teaspoons seeds to each cup water simmered gently 10 minutes. Drink freely 1 cup. Seeds should be swallowed.

Enema. Strong Yarrow tea enema to control bowel bleeding. ... legionnaire’s disease

see X-linked lymphoproliferative syndrome. [Duncan family, in whom the disease was first studied]... duncan disease

inflammation of the blood vessels of the retina occurring in young adults. It is characterized by leakage from abnormal growths of new vessels as well as recurrent haemorrhages into the vitreous humour. [H. Eales (1852–1913), British physician]... eales’ disease

(Anderson–Fabry disease) an inherited disorder – an X-linked recessive condition (see sex-linked) – characterized by deficiency of the enzyme ?-galactosidase. It causes accumulation of glycosphingolipid (see cerebroside) in the body, leading to prominent and progressive involvement of the skin (with the formation of *angiokeratomas), heart, kidneys, and nervous system. The disease is treated with genetically engineered enzyme replacement therapy. [J. Fabry (1860–1930), German dermatologist]...  fabry disease

(GTD) a group of disorders spanning the conditions of complete and partial molar pregnancies (see hydatidiform mole) through to the malignant conditions of invasive mole, *choriocarcinoma, and the very rare placental site trophoblastic tumour (PSTT). If there is any evidence of persistence of GTD, most commonly defined as a persistent elevation of *human chorionic gonadotrophin, the condition is described as *gestational trophoblastic neoplasia.... gestational trophoblastic disease

(PD). Paralysis agitans. First described by James Parkinson, 1817. His description is as apt today as when it appeared in his book “Essay on the Shaking Palsy”. He wrote: “It is characterised by involuntary tremulous motion, with lessened muscular power in parts not in action and even when supported. There is a tendency to bend the trunk forward and to pass from a walking to a running pace. The senses and intellect are uninjured.”

Added to the above are:– muscular rigidity, loss of reflexes, drooling – escape of saliva from the mouth. Muscles of the face are stiff giving a fixed expression, the back presents a bowed posture. The skin is excessively greasy and the patient is unable to express emotional feelings. Loss of blinking. Pin- rolling movement of thumb and forefinger.

Causes: degeneration of groups of nerve cells deep within the brain which causes a lack of neurotransmitting chemical, dopamine. Chemicals such as sulphur used by agriculture, drugs and the food industry are suspected. Researchers have found an increase in the disease in patients born during influenza pandemics.

Treatment. While cure is not possible, a patient may be better able to combat the condition with the help of agents that strengthen the brain and nervous system.

Tea. Equal parts: Valerian, Passion flower, Mistletoe. 1 heaped teaspoon to each cup water; bring to boil; simmer 1 minute; dose: half-1 cup 2-3 times daily.

Gotu Kola tea. (CNS stimulant).

Tablets/capsules. Black Cohosh, Cramp bark, Ginseng, Prickly Ash, Valerian.

Formula. Ginkgo 2; Black Cohosh 1; Motherwort 2; Ginger 1. Mix. Dose. Powders: 500mg (two 00 capsules or one-third teaspoon). Liquid extracts: 1 teaspoon. Tinctures: 1-3 teaspoons in water or honey. Fava Bean Tea.

Case report. Two patients unresponsive to Levodopa treatment reported improvement following meals of fresh broad beans. (Vicia faba) The beans contain levodopa in large amounts. (Parkinson Disease Update Vol 8, No 66, p186, Medical Publications, PO Box 24622-H, Philadelphia, USA) See also: BROAD BEANS. L-DOPA.

Nacuna Pruriens. Appropriate. Essential active constituent: L-dopa. (Medicinal plants and Traditional Medicine in Africa, by Abayomi Sofowora, Pub: John Wiley)

Practitioner. To reduce tremor: Tincture Hyoscyamus BP. To reduce spasm: Tincture Belladonna BP. To arrest drooling: Tincture Stramonium BP.

Diet. It is known that people who work in manganese factories in Chile may develop Parkinson’s disease after the age of 30. Progress of the disease is arrested on leaving the factory. Two items of diet highest in manganese are wheat and liver which should be avoided, carbohydrates in place of wheat taking the form of rice and potatoes.

Supplements. Daily: B-complex, B2, B6, niacin. C 200mg to reduce side-effects of Levodopa. Vitamin E 400iu to possibly reduce rigidity, tremors and loss of balance.

Treatment of severe nerve conditions should be supervised by neurologists and practitioners whose training prepares them to recognise serious illness and to integrate herbal and supplementary intervention safely into the treatment plan.

Antioxidants. Evidence has been advanced showing how nutritional antioxidants, high doses of Vitamin C and E, can retard onset of the disease, delaying the use of Levodopa for an average of 2 and a half years. (Fahn S., High Dose Alpha-tocopherol and ascorbate in Early Parkinson’s Disease – Annals of Neurology, 32-S pp128-132 1992)

For support and advice: The Parkinson’s Disease Society, 22 Upper Woburn Place, London WC1H 0RA, UK. Send SAE. ... parkinson’s disease

A variety of diseases caused by inhalation of asbestos fibres. Asbestos is a fibrous mineral formerly used as a heat- and fire-resistant insulating material. There are 3 main types of asbestos fibre: white, which is widely used; blue; and brown, the most dangerous. The use of all types is now carefully controlled.

In asbestosis, widespread fine scarring occurs in the lungs. The disease causes breathlessness and a dry cough, eventually leading to severe disability and death. It develops mostly in industrial workers who have been heavily exposed to asbestos. The period from initial exposure to development of the disease is usually at least 20 years. Diagnosis is by chest X-ray. Asbestosis increases the risk of lung cancer.

Mesothelioma is a cancerous tumour of the pleura (the membrane surrounding the lungs) or the peritoneum (the membrane lining the abdominal cavity). In the pleura, mesotheliomas cause pain and breathlessness; in the peritoneum they cause enlargement of the abdomen and intestinal obstruction. The condition cannot be treated and usually leads to death within 1 or 2 years. The average interval between initial exposure to asbestos and death is 20–30 years. Mesothelioma affects people who have worked with blue or brown asbestos.

In diffuse pleural thickening, the outer and inner layers of the pleura become thickened, and excess fluid may accumulate in the cavity between them.

This combination restricts the ability of the lungs to expand, resulting in shortness of breath.

The condition may develop even after short exposure to asbestos.... asbestos-related diseases

a rare autoimmune illness with production of antibodies directed against the glomerular basement membrane (anti-GBM antibodies). Classically patients present with lung haemorrhage and a rapidly progressive glomerulonephritis. Most cases will respond to aggressive treatment with plasma exchange and immunosuppression. [E. W. Goodpasture (1886–1960), US pathologist]... goodpasture’s disease

see Marburg disease.... green monkey disease

a temporary disturbance in blood clotting caused by *vitamin K deficiency and affecting infants on the second to fourth day of life. It varies in severity from mild gastrointestinal bleeding to profuse bleeding into many organs, including the brain. It is more common in breast-fed and preterm infants. The condition can be prevented by giving all babies vitamin K, either by injection or orally, shortly after birth. Medical name: melaena neonatorum.... haemorrhagic disease of the newborn

see Langerhans cell histiocytosis. [A. Hand (1868–1949), US paediatrician; A. Schüller (1874–1958), Austrian neurologist; H. A. Christian (1876–1951), US physician]... hand–schüller–christian disease

Various parasites and infectious organisms can spread from cats to humans. The most serious disease is rabies. Cat-scratch fever is an uncommon illness caused by infection with the bacterium ROCHALIMAEA HENDELAE following a cat scratch or bite. Cats commonly carry the protozoan TOXOPLASMA GONDII, which causes toxoplasmosis.

Infection, usually from contact with cat’s faeces, is not generally serious but has serious consequences if a woman is infected during pregnancy.

Cat faeces may also carry eggs of the cat roundworm, a possible cause of toxocariasis.

Rarely, a larva from an ingested roundworm egg migrates to and lodges in an eye, causing deterioration of vision or even blindness.

Children who have been playing in sand or soil contaminated by cat faeces are most commonly affected.

Other cat-related disorders in humans include tinea (ringworm), fungal infections of the skin, bites from cat fleas, and allergic reactions to dander that may cause asthma or urticaria.

Diseases from cats can be avoided by good hygiene, veterinary care for animals that are ill, and regular worming and flea treatment of cats.... cats, diseases from

A rare, rapidly progressive degenerative condition of the brain. Creutzfeldt–Jakob disease (CJD) is thought to be due to an infection with a prion (slow virus). This is similar to the agent that causes scrapie in sheep and bovine spongiform encephalopathy (BSE) in cattle. One main variant of CJD largely affects middleaged or elderly people and has no obvious cause. A second main variant, occurring in younger people, is associated with contamination during brain surgery or transplants from infected people, or treatment with human growth hormone or gonadotrophin hormones. Recently, a 3rd variant, called new variant (nv) CJD, that attacks people in their teens and 20s has been identified. NvCJD causes pathological changes in the brain similar to those seen in BSEinfected cattle. It is thought to be acquired by eating infected beef.

Symptoms are similar for all variants. Progressive dementia and myoclonus (sudden muscular contractions) occur; muscular coordination diminishes; the intellect and personality deteriorate; and blindness may develop. As the disease progresses, speech is lost and the body becomes rigid. There is no treatment and death usually occurs within 2–3 years.... creutzfeldt–jakob disease

Several diseases are linked with diet. Diseases due to a deficiency are rare in developed countries, but many disorders are due partly to overconsumption of certain foods. A diet high in fats may contribute to atherosclerosis and heart disease. A high-fat diet has also been linked with cancer of the bowel (see colon, cancer of) and breast cancer. Obesity increases the risk of many other disorders, including diabetes mellitus and stroke.

Overconsumption of alcohol can lead to various alcohol-related disorders. A high salt intake predisposes a person towards hypertension. Some components of the diet protect against disease. For example, fibre protects against diverticular disease, chronic constipation, and haemorrhoids.

Many people’s diets contain too few natural vitamins. Pregnant women need high intakes of folic acid to reduce the risk of neural tube defects.

Although many illnesses are commonly ascribed to food allergy, it is only rarely that a definite link is proved. (See also nutritional disorders).... diet and disease

a rare hereditary defect in the absorption of the amino acid tryptophan, leading to learning disability, thickening and roughening of the skin on exposure to light, and lack of muscular coordination. The condition is similar to *pellagra. Treatment with nicotinamide is usually effective. [Hartnup, the family in whom it was first reported]... hartnup disease

a disorder associated with proliferation of B lymphocytes producing heavy chains – one of the two types of polypeptide chains (the other being light chains) that make up the structure of immunoglobulins. It results in the production of abnormal immunoglobulins with distorted heavy chains and no light chains.... heavy-chain disease

see occupational disease.... industrial disease

see haemochromatosis.... iron-storage disease

necrosis of the *lunate bone of the wrist caused by interruption of its blood supply (see osteochondritis; osteonecrosis). It usually follows chronic stress or injury to the wrist and presents with pain and stiffness, with reduced grip strength. Initially, X-rays may show no abnormality; if the disease is suspected, a bone scan or MRI is indicated. Treatment is with rest, splintage, and *NSAIDs, but some cases require surgical shortening of the radius or *arthrodesis of the wrist. [R. Kienböck (1871–1953), Austrian radiologist]... kienböck’s disease

osteonecrosis of the *navicular bone of the foot (see osteochondritis). It occurs in children aged 3–7 years, causing pain and limping, and is treated by strapping the foot, rest, and anti-inflammatory drugs. [A. Köhler (1874–1947), German physician]... köhler’s disease

Infectious or parasitic diseases that are acquired from contact with dogs. They may be caused by viruses, bacteria, fungi, protozoa, worms, insects, or mites living in or on a dog. Many parasites that live on dogs can be transferred to humans. The most serious disease from dogs is rabies. The is free of rabies, but travellers to countries in which rabies exists should treat any bite with suspicion. Dog bites can cause serious bleeding and shock and may become infected. Toxocariasis and hydatid disease are potentially serious diseases caused by the ingestion of worm eggs from dogs. In the tropics, walking barefoot on soil that is contaminated with dog faeces can lead to dog hookworm infestation.

Bites from dog fleas are an occasional nuisance. Ticks and mites from dogs, including a canine version of the scabies mite, are other common problems. The fungi that cause tinea infections in dogs can be caught by humans.

Some people become allergic to animal dander (tiny scales from fur or skin). They may, for example, have asthma or urticaria when a dog is in the house. (See also zoonoses.)... dogs, diseases from

A tropical disease caused by a female parasitic worm more than 1 m long. Infection is the result of drinking water containing the water flea cyclops, which harbours larvae of the worm. The larvae pass through the intestine and mature in body tissues. After about a year, the adult female worm, now pregnant, approaches the skin surface and creates an inflamed blister that bursts, exposing the end of the worm. Urticaria, nausea, and diarrhoea often develop while the blister is forming. The disease occurs in Africa, South America, the Caribbean, Middle East, and India.

The traditional remedy is to wind the worm from the skin on to a small stick. Once the worm is out, the condition usually clears up. The drugs tiabendazole and niridazole are given to reduce inflammation, antibiotics are given to control secondary infection, and the patient is immunized against tetanus.... guinea worm disease

Relatively few insect species cause disease directly in humans. Some parasitize humans, living under the skin or on the body surface (see lice; chigoe; myiasis). The most troublesome insects are flies and biting insects. Flies can carry disease organisms from human or animal excrement via their feet or legs and contaminate food or wounds.

A number of serious diseases are spread by biting insects.

These include malaria and filariasis (transmitted by mosquitoes), sleeping sickness (tsetse flies), leishmaniasis (sandflies), epidemic typhus (lice), and plague (rat fleas).

Mosquitoes, sandflies, and ticks can also spread illnesses such as yellow fever, dengue, Lyme disease, and some types of viral encephalitis.

Organisms picked up when an insect ingests blood from an infected animal or person are able to survive or multiply in the insect.

Later, the organisms are either injected into a new human host via the insect’s saliva or deposited in the faeces at or near the site of the bite.

Most insect-borne diseases are confined to the tropics and subtropics, although tick-borne Lyme disease occurs in some parts of the.

The avoidance of insect-borne disease is largely a matter of keeping flies off food, discouraging insect bites by the use of suitable clothing and insect repellents, and, in parts of the world where malaria is present, the use of mosquito nets and screens, pesticides, and antimalarial tablets.... insects and disease

(juvenile spinal muscular atrophy) see spinal muscular atrophy. [E. Kugelberg and L. Wellander (20th century), Swedish neurologists]... kugelberg–wellander disease

a tropical disease, common in southern India, caused by a virus transmitted to humans through the bite of the forest-dwelling tick Haemaphysalis spinigera. Symptoms include fever, headache, muscular pains, vomiting, conjunctivitis, exhaustion, bleeding of nose and gums and, subsequently, internal bleeding and the *necrosis of various tissues. General therapy, in the absence of specific treatment, involves relief of dehydration and loss of blood; analgesics are given to alleviate pain.... kyasanur forest disease

a *sex-linked hereditary disease caused by an enzyme deficiency resulting in overproduction of uric acid. Affected boys have learning disabilities and suffer from *spasticity and gouty arthritis. They also have a compulsion for self-mutilation. [M. Lesch (1939–2008) and W. L. Nyhan Jr. (1926– ), US physicians]... lesch–nyhan disease

see Langerhans cell histiocytosis. [E. Letterer (20th century) and S. A. Siwe (1897–1966), German physicians]... letterer–siwe disease

Damage to the liver caused by excessive alcohol consumption.

The longer consumption goes on, the more severe the damage.

The initial effect is the formation of fat globules between liver cells, a condition called fatty liver.

This is followed by alcoholic hepatitis, and damage then progresses to cirrhosis.

Alcohol-related liver disease increases the risk of developing liver cancer.

Liver function tests show a characteristic pattern of abnormalities, and liver biopsy may be needed to assess the severity of damage.

There is no particular treatment, but abstinence from alcohol prevents further damage.

Treatment for alcohol dependence may be required.... liver disease, alcoholic

Illnesses, disorders, or injuries that result from exposure to chemicals or dust, or are due to physical, psychological, or biological factors in the workplace.

Pneumoconiosis is fibrosis of the lung due to inhalation of industrial dusts, such as coal. Asbestosis is associated with asbestos in industry. Allergic alveolitis is caused by organic dusts (see farmer’s lung).

Industrial chemicals can damage the lungs if inhaled, or other major organs if they enter the bloodstream via the lungs or skin. Examples include fumes of cadmium, beryllium, lead, and benzene. Carbon tetrachloride and vinyl chloride are causes of liver disease. Many of these compounds can cause kidney damage. Work-related skin disorders include contact dermatitis and squamous cell carcinoma. Rare infectious diseases that are more common in certain jobs include brucellosis and Q fever (from livestock), psittacosis (from birds), and leptospirosis (from sewage). People who work with blood or blood products are at increased risk of viral hepatitis (see hepatitis, viral) and AIDS, as are healthcare professionals. The nuclear industry and some healthcare professions use measures to reduce the danger from radiation hazards. Other occupational disorders include writer’s cramp, carpal tunnel syndrome, singer’s nodes, Raynaud’s phenomenon, deafness, and cataracts.... occupational disease and injury

A combination of chronic bronchitis and emphysema, in which there is persistent disruption of air flow into or out of the lungs. Patients are sometimes described as either pink puffers or blue bloaters, depending on their condition. Pink puffers maintain adequate oxygen in their bloodstream through an increase in their breathing rate, and remain “pink” despite damage to the lungs. However, they suffer from almost constant shortness of breath. Blue bloaters are cyanotic (have a bluish discoloration of the skin and mucous membranes) because of obesity, and sometimes oedema, mainly due to heart failure resulting from the lung damage.... pulmonary disease, chronic obstructive

a form of *cerebral palsy involving both sides of the body and affecting the legs more severely than the arms. [W. J. Little (1810–94), British surgeon]... little’s disease

(aminoacidopathy) an inborn defect of amino acid metabolism causing an excess of valine, leucine, isoleucine, and alloisoleucine in the urine, which has an odour like maple syrup. Treatment is dietary; if untreated, the condition leads to learning disabilities and death in infancy.... maple syrup urine disease

obstruction of the outlet of the bladder caused by enlargement of the muscle cells in the neck of the bladder. [J. B. C. G. Marion (1869–1960), French surgeon]... marion’s disease

a rare disorder caused by *hypertrophy of the mucosa. It is characterized by diffusely enlarged gastric folds and excess mucus production, leading to anaemia, protein loss, and peripheral oedema. [P. Ménétrier (1859–1935), French physician]... ménétrier’s disease

a genetic disorder characterized by severe learning disabilities, seizures, poor vision, colourless fragile hair, and chubby red cheeks. It is inherited as an X-linked (see sex-linked) recessive characteristic. There is no treatment and affected infants usually die before the age of three. [J. H. Menkes (1928–2008), US neurologist]... menkes kinky-hair disease

swelling of the lacrimal and salivary glands as a result of infiltration with *lymphoid tissue. [J. von Mikulicz Radecki (1850–1905), Polish surgeon]... mikulicz’s disease

Rats are rodents that live close to human habitation. They damage and contaminate crops and food stores and can spread disease. The organisms responsible for plague and a type of typhus are transmitted to humans by the bites of rat fleas. Leptospirosis is caused by contact with anything contaminated by rat’s urine.

Rat-bite fever is a rare infection transmitted directly by a rat bite. There are 2 types of this infection, caused by different bacteria. The symptoms include inflammation at the site of the bite and in nearby lymph nodes and vessels, bouts of fever, a rash, and, in one type, painful joint inflammation. Treatment for both types is with antibiotic drugs.

Rabies virus can be transmitted by the bites of infected rats. Lassa fever, also a viral disease, may be contracted from the urine of rats in West Africa. Rats also carry the viral infection lymphocytic chorio-meningitis, as well as the bacterial infection tularaemia.... rats, diseases from

Small, 8-legged animals that feed on blood and sometimes transmit diseases to humans via their bites. Ticks are about 3 mm long before feeding and become larger when bloated with blood. Ticks may be picked up in long grass, scrub, woodland, or caves.

In the , the only disease known to be transmitted to humans by ticks is Lyme disease. Others transmitted in various parts of the world include relapsing fever, Rocky Mountain spotted fever, Q fever, tularaemia, and certain types of viral encephalitis. The prolonged bite of certain female ticks can cause tick paralysis, in which a toxin in the tick saliva affects the nerves that control movement. In extreme cases, this can be fatal.... ticks and disease

(CJD) a rapidly progressive rare neurological disease, a form of human *spongiform encephalopathy in which dementia progresses to death after a period of 3–12 months. There is no effective treatment. The causative agent is an abnormal *prion protein that accumulates in the brain and causes widespread destruction of tissue. CJD typically affects middle-aged to elderly people. Some 15% of cases are due to a form of the disease that is inherited as an autosomal *dominant trait but most cases are sporadic, susceptibility being genetically determined. A few cases of CJD are acquired: the agent is known to have been transmitted by tissue and organ transplantation and by human growth hormone injections, but the disease may take years to manifest itself. Variant Creutzfeldt–Jakob disease (vCJD) is the human form of bovine spongiform encephalopathy (BSE), which is most likely acquired by the ingestion of infected beef products. Patients are younger than those affected with sporadic CJD and present with psychiatric symptoms (e.g. depression, anxiety) and hypersensitivity to touch, which are followed after months by myoclonic jerks (see myoclonus) and dementia. [H. G. Creutzfeldt (1885–1964) and A. M. Jakob (1884–1931), German psychiatrists]... creutzfeldt–jakob disease

see lymphoedema. [W. F. Milroy (1855–1942), US physician]... milroy’s disease

a disease with features in common with systemic *lupus erythematosus, *polymyositis, and *scleroderma. It is characterized by high levels of antibodies to ribonucleoprotein and most commonly affects women between 20 and 40 years of age.... mixed connective tissue disease

a defect of *mucopolysaccharide metabolism (see inborn error of metabolism) that causes dwarfism with a *kyphosis, a short neck, *knock-knee, and an angulated sternum in affected children. Intelligence is normal. [L. Morquio (1865–1935), Uruguayan physician; J. F. Brailsford (1888–1961), British radiologist]... morquio–brailsford disease

an inherited (autosomal *recessive) disorder of lipid metabolism due to a defect in the enzyme sphingomyelinase and resulting in accumulation of sphingomyelin (a sphingolipid) and other phospholipids in the bone marrow, brain, liver, and spleen. Patients present with neurological problems, learning disabilities, and enlargement of the liver and spleen at a young age. There are four known types of the disease. [A. Niemann (1880–1921), German paediatrician; L. Pick (1868–1944), German pathologist]... niemann–pick disease

a rare X-linked (see sex-linked) recessive inherited condition usually presenting in childhood or early adult life with polyuria, microscopic haematuria, renal stone disease, or rickets. The majority of patients have a mutation of the gene encoding chloride channel 5 (CLCN5); others have a defect of the OCRL1 gene, normally associated with Lowe’s syndrome, but do not present with the cataracts, learning disability, and tubular acidosis associated with this condition. In still others the genetic defect has yet to be defined but is not associated with either CLCN5 or OCRL1. Patients with Dent’s disease have evidence of proximal tubular dysfunction. [C. E. Dent (1911–76), British physician]... dent’s disease

a condition resulting from an infestation of the small intestine by hookworms. Hookworm larvae live in the soil and infect humans by penetrating the skin. The worms travel to the lungs in the bloodstream and from there pass via the windpipe and gullet to the small intestine. Heavy hookworm infections may cause considerable damage to the wall of the intestine, leading to a serious loss of blood; this, in conjunction with malnutrition, can provoke severe anaemia. Symptoms include itching and rash at the site of infection, followed by abdominal pain, diarrhoea, debility, and mental inertia. More serious effects can include difficulty in breathing, heart enlargement, and irregular heartbeat. The disease occurs mostly in the tropics and subtropics; mebendazole is used in treatment.... hookworm disease

(ICD) a list of all known diseases and syndromes, including mental and behavioural disorders, published by the *World Health Organization every ten years (approximately). Over the years the classification has moved from being disease-orientated to include a wider framework of illness and other health problems. The version in current use, ICD-10, was published in 1992 and employs alphanumeric coding. It is used in many countries as the principal means of classifying both mortality and morbidity experience and allows comparison of morbidity and mortality rates nationally and internationally. The clinical utility of the ICD is a matter of some controversy, especially in the field of psychiatry. ICD-11 was published in June 2018 and is intended to come into use from 2022. It includes about 55,000 codes for injuries, diseases, and causes of death, which is three times more than its predecessor. It also differs substantially from ICD-10 as each disease entry includes descriptions and guidance as to what is covered by the term, rather than the term alone. For the first time it includes specific sections on sexual health and traditional medicine. A parallel list, the International Classification of Functioning, Disabilities and Health (ICF), has also been compiled and is being used alongside the ICD. See also handicap.

The standard international classification for statistical, administrative, and epidemiological purposes, as supplied by the World Health Organization

The WHO framework for measuring health and disability in individuals and populations... international classification of diseases

(Perthes disease, pseudocoxalgia) necrosis of the head of the femur (thigh bone) due to interruption of its blood supply (see osteochondritis). Of unknown cause, it occurs most commonly in boys between the ages of 5 and 10 and causes aching and a limp. The head of the femur can collapse and become deformed, resulting in a short leg and restricted hip movement. Affected boys are kept under observation and their activities are restricted; surgery may be required in more severe cases. [A. T. Legg (1874–1939), US surgeon; J. Calvé (1875–1954), French orthopaedist; G. C. Perthes (1869–1927), German surgeon]... legg–calvé–perthes disease

(NTDs) as defined by the *World Health Organization (WHO), a diverse group of *communicable diseases found almost entirely among poor populations in tropical and subtropical parts of Africa, Asia, and the Americas. Although they affect more than 1.4 billion people, and countermeasures would in many cases be inexpensive, NTDs have traditionally received far less attention than the major infectious diseases HIV/AIDS, tuberculosis, and malaria. In 2013 the WHO resolved to intensify its efforts to eradicate or control NTDs. The current WHO list identifies 24 such diseases, including *Buruli ulcer, *chikungunya fever, *dengue, *leishmaniasis, and *Madura foot (mycetoma).... neglected tropical diseases

see dyschondroplasia. [L. L. X. E. Ollier (1830–1900), French surgeon]

ology combining form. see -logy.... ollier’s disease

(hereditary haemorrhagic telangiectasia) a hereditary (autosomal *dominant) disorder characterized by thinning of the blood vessel walls, resulting in abnormally wide and fragile blood vessels. Patients may develop telangiectasia (see telangiectasis), nosebleeds, and arteriovenous malformations (see angioma). It is caused by mutations in the endoglin (ENG) gene or the activin receptor-like kinase (ALK-1) gene. [Sir W. Osler (1849–1919), Canadian physician; H. J. M. Rendu (1844–1902), French physician; F. P. Weber (1863–1962), British physician]... osler–rendu–weber disease

see frontotemporal dementia. [A. Pick (1851–1924), Czech psychiatrist]... pick’s disease

a hyperfunctioning, usually benign, *adenoma of the thyroid gland, which can be palpated and appears as a ‘hot nodule’ on radioactive thyroid scanning. Treatment is to control the nodule with antithyroid drugs and then remove it surgically or destroy it permanently with radioactive iodine. [H. S. Plummer (1874–1937), US physician]... plummer’s disease

*tuberculosis of the backbone. Untreated, it can lead to a hunchback deformity. Treatment is antituberculous chemotherapy and occasionally surgery. [P. Pott (1714–88), British surgeon]... pott’s disease

(NAFLD) a spectrum of conditions affecting the liver in the absence of excessive alcohol consumption. NAFLD is a common cause of referral for patients with abnormal liver function tests. Fatty liver is excessive fat accumulation in the liver seen as an area of brightness within the liver on ultrasound examination. Fatty liver does not lead to irreversible liver damage in the majority of cases. Nonalcoholic steatohepatitis (NASH) is inflammation of the liver associated with accumulation of fat. It is often linked to insulin resistance, diabetes, hypertension, obesity, and *metabolic syndrome. Treatment involves dietary modification, regular physical exercise, weight reduction, and management of underlying conditions (e.g. diabetes, hypertension, and hiperlipidaemia). NASH may predispose to *cirrhosis and may ultimately require liver transplantation.... nonalcoholic fatty liver disease

a disease to which workers in certain occupations are particularly prone. Industrial diseases, associated with a particular industry or group of industries, fall within this category. Examples of such diseases include the various forms of *pneumoconiosis, which affect the lungs of workers continually exposed to dusty atmospheres; cataracts in glassblowers; decompression sickness in divers; poisoning from toxic metals in factory and other workers; and infectious diseases contracted from animals by farm workers, such as woolsorter’s disease (see anthrax). See also coshh, prescribed disease; industrial injuries disablement benefit.... occupational disease

a severe illness of children of the teething age, marked by pink cold clammy hands and feet, heavy sweating, raised blood pressure, rapid pulse, photophobia, loss of appetite, and insomnia. Affected infants are very prone to secondary infection, which may be fatal. It has been suggested that the condition is an allergic reaction to mercury, since it used to occur when teething powders, lotions, and ointments containing mercury were used. Although there is no definite proof of this, the disease has virtually disappeared since all mercury-containing paediatric preparations have been banned. Medical names: acrodynia, erythroedema, erythromelalgia.... pink disease

either of two inherited disorders in which renal cysts are a common feature. Autosomal recessive polycystic kidney disease (ARPKD) occurs in about 1 in 20,000 live births. It is due to a single mutation on chromosome 6 for the gene encoding the protein fibrocystin. The majority of cases are diagnosed before or at birth. The most severely affected fetuses have enlarged kidneys and *oligohydramnios due to poor fetal renal output. These fetuses develop the ‘Potter’ phenotype with characteristic facies, pulmonary hypoplasia, and deformities of the spine and limbs. Those surviving the neonatal period (50–70%) develop varying degrees of renal impairment but this may not proceed to end-stage until early adulthood.

Autosomal dominant polycystic kidney disease (ADPKD) affects between 1 in 400 and 1 in 1000 individuals and is one of the most common hereditary diseases. Two types have been defined. ADPKD 1 is the commonest and responsible for about 85% of cases. It is due to a mutation in the PKD1 gene on chromosome 16, which encodes polycystin 1, an *ion-channel-regulating protein. ADPKD2 is due to a mutation in the PKD2 gene on chromosome 4, which encodes the protein polycystin 2, a calcium-release channel. ADPKD2 tends to be a milder disease with later presentation.

ADPKD is a multisystem disorder that is also associated with cyst formation in other organs (particularly the liver), cardiovascular disorders, and colonic diverticular disease. Renal disease presents in early adult life with haematuria, loin pain, urinary tract infection, hypertension, renal stone disease, or the finding of a mass in the abdomen. Other cases are identified by family contact tracing; the findings of a few cysts on renal ultrasonography in a young adult with a family history of ADPKD is highly suggestive of the disease. Renal disease is progressive and about 50% of patients will have reached end-stage by the time they enter their seventh decade. The progress of the renal failure can be slowed by good blood pressure control. In the UK, patients with ADPKD are responsible for 5–10% of the total on renal replacement therapy.

There are a number of separate rare autosomal dominant conditions other than ADPKD1 and ADPKD 2 that can present with polycystic kidneys. These include *von Hippel-Lindau disease and *tuberous sclerosis.... polycystic disease of the kidneys

see Takayasu’s disease.... pulseless disease

an inherited disorder of lipid metabolism resulting in abnormal accumulation of phytanic acid (a fatty acid) in body tissues. This results in a *peripheral neuropathy affecting the sensory and motor nerves, diminishing vision due to *retinitis pigmentosa, and unsteadiness (*ataxia) caused by damage to the cerebellum. [S. Refsum (20th century), Norwegian physician]... refsum’s disease

see staphylococcal scalded skin syndrome. [G. Ritter von Rittershain (1820–83), German physician]... ritter’s disease

(adolescent kyphosis) a disorder of spinal growth in which a sequence of three or more vertebrae become slightly wedge-shaped. It arises in adolescence and usually occurs in the thoracic spine, causing poor posture, backache, fatigue, and exaggerated *kyphosis. X-ray findings include *Schmorl’s nodes. [H. W. Scheuermann (1877–1960), Danish surgeon]... scheuermann’s disease

(SCUAD) severe *rhinitis and *rhinosinusitis that has not been fully controlled by optimal pharmacological treatment.... severe chronic upper airway disease

*apophysitis caused by pulling at the point of insertion of the Achilles tendon into the calcaneus (heel bone), causing heel pain. [J. W. Sever (20th century), US orthopaedic surgeon]... sever’s disease

one of a number of *occupational diseases for which benefits are payable. These diseases arise as a result of employment requiring close contact with a hazardous substance or circumstance. Prescribed diseases are categorized by cause: physical, biological, chemical, or other. Examples include poisoning by such chemicals as mercury or benzene, decompression sickness in divers, and infections such as *anthrax in those handling wool. Some diseases that occur widely in the population may be prescribed in relation to a specific occupation (e.g. deafness in those working with pneumatic drills or tuberculosis in mortuary attendants). See also COSHH.... prescribed disease

(STD) any disease transmitted by sexual intercourse, formerly known as venereal disease. STDs include *AIDS, *syphilis, *gonorrhoea, some *Chlamydia infections, genital *herpes, and *soft sore. The medical specialty concerned with STDs is genitourinary medicine.... sexually transmitted disease

(drepanocytosis) a hereditary blood disease that mainly affects people of African ancestry but also occurs in the Mediterranean region and reaches high frequencies in parts of Saudi Arabia and India. It occurs when the sickle-cell gene has been inherited from both parents and is characterized by the production of an abnormal type of *haemoglobin – sickle-cell haemoglobin (Hbs) – which precipitates in the red cells when the blood is deprived of oxygen, forming crystals that distort the cells into the characteristic sickle shape: this process is known as sickling. An excess of sickle cells in the circulation results in blockage of small blood vessels, producing episodes of severe pain (a sickle-cell crisis). Sickle cells are rapidly removed from the circulation, leading to anaemia and jaundice. There is no satisfactory treatment; the highest mortality is in childhood but some patients may live to an age of 60–70 years.

The carrier condition (sickle-cell trait) occurs when the defective gene is inherited from only one parent. It generally causes no symptoms but confers some protection from malaria, which accounts for the high frequency of the gene in malarious areas. If a general anaesthetic is to be given to a patient with this condition, the anaesthetist should be alerted.... sickle-cell disease

(pulseless disease) progressive occlusion of the arteries arising from the arch of the aorta (including those to the arms and neck), resulting in the absence of pulses in the arms and neck. Symptoms include attacks of unconsciousness (syncope), paralysis of facial muscles, and transient blindness, due to an inadequate supply of blood to the head. [M. Takayasu (1860–1938), Japanese ophthalmologist]... takayasu’s disease

an inherited disease of the kidneys in which the glomerular basement membrane, which filters waste material from the blood, is too thin, allowing small amounts of blood to pass across it. This can be a cause of benign familial haematuria and thin membrane disease is a common finding in renal biopsy series where the procedure has been carried out as part of the investigation of *haematuria. Thin membranes are also found in other conditions, e.g. in some cases of *Alport’s syndrome and *Berger’s nephropathy.... thin membrane disease

see scrub typhus.... tsutsugamushi disease

see polycythaemia vera. [L. H. Vaquez (1860–1936), French physician; Sir W. Osler (1849–1919), Canadian physician]... vaquez–osler disease

(vCJD) see Creutzfeldt–Jakob disease.... variant creutzfeldt–jakob disease

(VD) see sexually transmitted disease.... venereal disease

an inherited syndrome in which *haemangioblastomas, particularly in the cerebellum, are associated with renal and pancreatic cysts, *angiomas in the retina (causing blindness), cancer of the kidney cells, and red birthmarks. [E. von Hippel (1867–1939), German ophthalmologist; A. Lindau (1892–1958), Swedish pathologist]... von hippel–lindau disease

see anthrax.... woolsorter’s disease

see sex-linked.... x-linked disease

an old name for a contagious disease, which was formerly thought to develop within the body following infection in a process similar to the fermentation and growth of yeast.... zymotic disease

a hereditary disorder – a severe form of *spinal muscular atrophy – in which the cells of the spinal cord begin to die between birth and the age of six months, causing a symmetrical muscle weakness. Affected infants become floppy and progressively weaker; respiratory and facial muscles become affected. Children usually die by the age of 20 months from respiratory failure and there is no treatment. *Genetic counselling is required for parents of an affected child as each of their subsequent children has a one in four chance of being affected. [G. Werdnig (1844–1919), Austrian neurologist; J. Hoffmann (1857–1919), German neurologist]... werdnig–hoffmann disease