A physical deformity or malformation, a behavioural or mental problem, or a variation from normal in the structure or function of a cell, tissue, or organ in the body.
Naevus simplex Also known as ‘salmon patch’. About one-third of white children are born with macular pink areas of ERYTHEMA on the nape, brow or eyelids which usually disappear after a few months, but patches on the nape may persist.
Naevus ?ammeus Also known as ‘portwine stain’ and present at birth. It is unilateral, usually on the face, and may be extensive. It tends to darken with age and is permanent. Laser treatment is e?ective.
Strawberry naevus (cavernous haemangioma) is usually not present at birth but appears within a few weeks and grows rapidly, reaching a peak in size after 6–12 months, when the lobulated red nodule may resemble a ripe strawberry. Untreated, the naevus disappears spontaneously over several years. It may occur anywhere and may be very troublesome when occurring around an eye or on the ‘nappy’ area. If possible it should be left alone, but where it is causing problems other than simply cosmetic ones it is best treated by an expert. This may involve medical treatment with steroids or interferon or laser therapy.
Spider naevus is due to a dilated ARTERIOLE causing a minute red papule in the skin, the small branching vessels resembling spider legs. A few spider naevi are common in young people, but multiple naevi are common in pregnancy and may also be a warning sign of chronic liver disease.... naevus
Chronic pyelonephritis may start in childhood, and the usual cause is back ?ow of urine from the bladder into one of the ureters – perhaps because of a congenital deformity of the valve where the ureter drains into the bladder. Constant urine re?ux results in recurrent infection of the kidney and damage to its tissue. Full investigation of the urinary tract is essential and, if an abnormality is detected, surgery may well be required to remedy it. HYPERTENSION and renal failure may be serious complications of pyelonephritis (see also KIDNEYS, DISEASES OF).... pyelonephritis
Secondly – and more commonly termed the ‘At-risk register’ – this is a list held by social-service departments, and accessible to doctors in A&E departments, of children whom a local-authority social-services case conference has deemed to have been harmed or to be at risk of harm from mental, physical or sexual abuse (see also CHILD ABUSE).... risk register
People with Down’s syndrome have an extra chromosome (47 instead of 46). Affected individuals have 3 copies of chromosome number 21 instead of 2; the disorder is also called trisomy 21. In most cases, it is the result of a sperm or egg being formed with an extra chromosome 21. If one of these takes part in fertilization, the baby will also have the extra chromosome. This type of abnormality is more likely if the mother is aged over 35. A less common cause is a chromosomal abnormality known as a translocation, in which part of 1 parent’s own chromosome number 21 has joined with another chromosome. The parent is unaffected but has a high risk of having Down’s children.
Typical physical features of a person with Down’s syndrome include small face and features; sloping eyes with folds of skin that cover their inner corners; large tongue; and short, broad hands. People with Down’s syndrome have a greater than normal risk for certain disorders, such as a heart defect at birth (see heart disease, congenital), intestinal atresia (a narrowing in the intestines), congenital deafness, and acute leukaemia. Down’s syndrome children are especially susceptible to ear infections. A type of Alzheimer’s disease often develops after age 40.
Down’s syndrome is usually recognized soon after birth.
The diagnosis is confirmed by chromosome analysis.
Screening tests during early pregnancy, including ultrasound scanning, indicate those fetuses likely to have the syndrome.
Amniocentesis is then offered.... down’s syndrome
Lymphoedema may develop in the arm following a radical mastectomy. Otherwise, it usually causes swelling of the legs, to an incapacitating degree in some people. There is no known cure. Treatment consists of taking diuretic drugs, massage, wearing an elastic bandage or compression sleeve, and special exercises; these measures may bring about some improvement.... lymphoedema
Spontaneous abortion Often called miscarriage, this may occur at any time before 28 weeks; 85 per cent occur in the ?rst 12 weeks of pregnancy. Of all diagnosed pregnancies, 25 per cent end in spontaneous abortion.
Spontaneous abortions occurring in early pregnancy are almost always associated with chromosomal abnormalities of the fetus. Other causes are uterine shape, maternal disorders such as DIABETES MELLITUS, diseases of the thyroid gland (see under ENDOCRINE GLANDS), and problems with the immune system (see IMMUNITY). Recurrent spontaneous abortion (that is, three or more) seems to be a particular problem in women who have an abnormal response of their immune system to pregnancy. Other factors include being older, having had a lot of babies previously, cigarette smoking and spontaneous (but not therapeutic) abortions in the past.
Early ULTRASOUND scans have altered the management of spontaneous abortions. These make it possible to distinguish between threatened abortion, where a woman has had some vaginal bleeding but the fetus is alive; inevitable abortion, where the neck of the uterus has started to open up; incomplete abortion, where part of the fetus or placenta is lost but some remains inside the uterus; and complete abortion. There is no evidence that bed rest is e?ective in stopping a threatened abortion becoming inevitable.
Inevitable or incomplete abortion will usually require a gynaecologist to empty (evacuate) the uterus. (Complete miscarriage requires no treatment.) Evacuation of the uterus is carried out using local or general anaesthetic, usually gentle dilatation of the neck of the uterus (cervix), and curetting-out the remaining products of the pregnancy.
A few late abortions are associated with the cervix opening too early, abnormal structural abnormalities of the uterus, and possibly infection in the mother.
Drugs are often used to suppress uterine contractions, but evidence-based studies show that these do not generally improve fetal salvage. In proven cases of cervical incompetence, the cervix can be closed with a suture which is removed at 37 weeks’ gestation. The evidence for the value of this procedure is uncertain.
Therapeutic abortion In the UK, before an abortion procedure is legally permitted, two doctors must agree and sign a form de?ned under the 1967 Abortion Act that the continuation of the pregnancy would involve risk – greater than if the pregnancy were terminated – of injury to the physical and/or mental health of the mother or any existing child(ren).
Legislation in 1990 modi?ed the Act, which had previously stated that, at the time of the abortion, the pregnancy should not have exceeded the 24th week. Now, an abortion may legally be performed if continuing the pregnancy would risk the woman’s life, or the mental health of the woman or her existing child(ren) is at risk, or if there is a substantial risk of serious handicap to the baby. In 95 per cent of therapeutic terminations in the UK the reason is ‘risk of injury to the physical or mental health of the woman’.
There is no time limit on therapeutic abortion where the termination is done to save the mother’s life, there is substantial risk of serious fetal handicap, or of grave permanent injury to the health of the mother.
About 190,000 terminations are carried out in the UK each year and only 1–1.5 per cent are over 20 weeks’ gestation, with the vast majority of these late abortions being for severe, late-diagnosed, fetal abnormality.
The maternal mortality from therapeutic abortion is less than 1 per 100,000 women and, provided that the procedure is performed skilfully by experienced doctors before 12 weeks of pregnancy, it is very safe. There is no evidence that therapeutic abortion is associated with any reduction in future fertility, increased rates of spontaneous abortion or preterm birth in subsequent pregnancies.
Methods of abortion All abortions must be carried out in premises licensed for doing so or in NHS hospitals. The method used is either surgical or medical, with the latter being used more and the former less as time goes on. Proper consent must be obtained, signed for and witnessed. Women under 16 years of age can consent to termination provided that the doctors obtaining the consent are sure she clearly understands the procedure and its implications. Parental consent in the under-16s is not legally required, but counselling doctors have a duty to record that they have advised young people to inform their parents. However, many youngsters do not do so. The woman’s partner has no legal say in the decision to terminate her pregnancy.
MEDICAL METHODS A combination of two drugs, mifepristone and a prostaglandin (or a prostaglandin-like drug, misoprostol – see PROSTAGLANDINS), may be used to terminate a pregnancy up to 63 days’ gestation. A similar regime can be used between nine and 12 weeks but at this gestation there is a 5 per cent risk of post-treatment HAEMORRHAGE.
An ultrasound scan is ?rst done to con?rm pregnancy and gestation. The sac containing the developing placenta and fetus must be in the uterus; the woman must be under 35 years of age if she is a moderate smoker, but can be over 35 if she is a non-smoker. Reasons for not using this method include women with diseases of the ADRENAL GLANDS, on long-term CORTICOSTEROIDS, and those who have a haemorrhagic disorder or who are on ANTICOAGULANTS. The drugs cannot be used in women with severe liver or kidney disease, and caution is required in those with CHRONIC OBSTRUCTIVE PULMONARY DISEASE (COPD), disease of the cardiovascular system, or prosthetic heart valves (see PROSTHESIS), as well as with those who have had a CAESAREAN SECTION or an ECTOPIC PREGNANCY in the past or who are being treated for HYPERTENSION.
Some clinics use this drug combination for pregnancies older than 12 weeks. In pregnancies approaching viability (20 weeks), pretreatment fetocide (killing of the fetus) with intrauterine drug therapy may be required.
SURGICAL METHODS Vacuum curettage is a method used up to 14–15 weeks. Some very experienced gynaecologists will perform abortions surgically by dilating the cervix and evacuating the uterine contents up to 22 weeks’ gestation. The greater the size of the pregnancy, the higher the risk of haemorrhage and perforation of the uterus. In the UK, illegal abortion is rare but in other countries this is not the case. Where illegal abortions are done, the risks of infection and perforation are high and death a de?nite risk. Legal abortions are generally safe. In the USA, partial-birth abortions are spoken of but, in fact, there is no such procedure recorded in the UK medical journals.... abortion
A few patients with primary amenorrhoea have an abnormality of their CHROMOSOMES or malformation of the genital tract such as absecence of the UTERUS (see TURNER’S SYNDROME). A gynaecological examination will rarely disclose an IMPERFORATE HYMEN in a young girl who may also complain of regular cycles of pain like period pains.
There are many causes of secondary amenorrhoea and management requires dealing with the primary cause. The commonest cause is pregnancy. Disorders of the HYPOTHALAMUS and related psychological factors such as anorexia nervosa (see EATING DISORDERS) also cause amenorrhoea, as can poor nutrition and loss of weight by extreme dieting. It is common in ballet dancers and athletes who exercise a great deal, but can also be triggered by serious illnesses such as tuberculosis or malaria. Excess secretion of prolactin, either due to a micro-adenoma (see ADENOMA) of the PITUITARY GLAND or to various prescription drugs will produce amenorrhoea, and sometimes GALACTORRHOEA as well. Malfunction of other parts of the pituitary gland will cause failure to produce GONADOTROPHINS, thus causing ovarian failure with consequent amenorrhea. In CUSHING’S SYNDROME, amenorrhoea is caused by excessive production of cortisol. Similarly, androgen-production abnormalities are found in the common POLYCYSTIC OVARY SYNDROME. These conditions also have abnormalities of the insulin/glucose control mechanisms. Taking the contraceptive pill is not now considered to provoke secondary amenorrhoea but OBESITY and HYPOTHYROIDISM are potential causes.
When the cause is weight loss, restoring body weight may alone restore menstruation. Otherwise, measuring gonadotrophic hormone levels will help show whether amenorrhoea is due to primary ovarian failure or secondary to pituitary disease. Women with raised concentrations of serum gonadotrophic hormones have primary ovarian failure. When amenorrhoea is due to limited pituitary failure, treatment with CLOMIPHENE may solve the problem.... amenorrhoea
Arti?cial Insemination
In this method of fertilisation, SEMEN is collected either by the husband (AIH) or by a donor (AID) through masturbation and introduced into the cervix (neck of the womb) by means of an instrument around the time of OVULATION.
AIH is thought to be particularly useful for men with retrograde ejaculation or erectile IMPOTENCE. AID may be considered when the partner’s sperm count is either very low or zero.
Insemination can be made with fresh or frozen semen. Donors should be tested for sexually transmitted diseases and their identity remain unknown to the infertile couple. The pregnancy rate over six months is 50–60 per cent. Arti?cial insemination is usually done at specially sta?ed centres with facilities to store semen and provide the individuals involved with appropriate counselling. Success rates are up to 70 per cent with fresh semen (used over a six-month period) and over 50 per cent with frozen semen.... artifact (artefact)
The disease manifests itself in many ways. It may not be ?nally diagnosed and characterised until the infant is two years old, but may be apparent much earlier – even soon after birth. The child may be spastic or ?accid, or the slow, writhing involuntary movements known as athetosis may be the predominant feature. These involuntary movements often disappear during sleep and may be controlled, or even abolished, in some cases by training the child to relax. The paralysis varies tremendously. It may involve the limbs on one side of the body (hemiplegia), both lower limbs (paraplegia), or all four limbs (DIPLEGIA and QUADRIPLEGIA). Learning disability (with an IQ under 70) is present in around 75 per cent of all children but children with diplegia or athetoid symptoms may have normal or even high intelligence. Associated problems may include hearing or visual disability, behavioural problems and epilepsy.
The outlook for life is good, only the more severely affected cases dying in infancy. Although there is no cure, much can be done to help these disabled children, particularly if the condition is detected at an early stage. Assistance is available from NHS developmental and assessment clinics, supervised by community paediatricians and involving a team approach from experts in education, physiotherapy, occupational therapy and speech training. In this way many of these handicapped children reach adulthood able to lead near-normal lives. Much help in dealing with these children can be obtained from SCOPE (formerly the Spastics Society), and Advice Service Capability Scotland (ASCS).... cerebral palsy
Barrel chest is found in long-standing ASTHMA or chronic BRONCHITIS and EMPHYSEMA, when the lungs are chronically enlarged. The anterio-posterior dimension of the chest is increased and the ribs are near horizontal. In this position they can produce little further expansion of the chest, and breathing often relies on accessory muscles in the neck lifting up the whole thoracic cage on inspiration.
Pigeon chest is one in which the cross-section of the chest becomes triangular with the sternum forming a sort of keel in front. It may be related to breathing problems in early life.
Rickety chest is uncommon now and is caused by RICKETS in early life. There is a hollow down each side caused by the pull of muscles on the softer ribs in childhood. The line of knobs produced on each side where the ribs join their costal cartilages is known as the rickety rosary.
Pectus excavatum, or funnel chest, is quite a common abnormality where the central tendon of the diaphragm seems to be too short so that the lower part of the sternum is displaced inwards and the lower ribs are prominent. When severe, it may displace the heart further to the left side.
Local abnormalities in the shape of the chest occur when there is a deformity in the spine such as scoliosis which alters the angles of the ribs. The chest wall may be locally ?attened when the underlying lung is reduced in size locally over a prolonged period. (See SPINE AND SPINAL CORD, DISEASES AND INJURIES OF.) This may be seen over a scarred area of lung such as that observed in pulmonary TUBERCULOSIS.... chest, deformities of
Compensation also refers to the ?nancial compensation awarded to an individual who has been injured or made ill as a result of wrongful action or inaction by another individual or organisation. NHS trusts are increasingly being sued for compensation because patients believe that they have had unsatisfactory or damaging treatment. This is costing the NHS over £1 billion a year. (See RISK MANAGEMENT.)
Compensation neurosis Compensation neurosis or ‘traumatic’ neurosis is a psychological reaction to the prospects of compensation. It is a condition about which specialists disagree. Su?erers complain of a range of symptoms that may be a genuine consequence of their condition or an exaggerated response.... compensation
In most people, deafness is a result of sensorineural hearing impairment, commonly known as nerve deafness. This means that the abnormality is located in the inner ear (the cochlea), in the auditory nerve, or in the brain itself. The prevalence of this type of hearing impairment rises greatly in elderly people, to the extent that more than 50 per cent of the over-70s have a moderate hearing impairment. In most cases no de?nite cause can be found, but contributory factors include excessive exposure to noise, either at work (e.g. shipyards and steelworks) or at leisure (loud music). Anyone who is exposed to gun?re or explosions is also likely to develop some hearing impairment: service personnel, for example.
Conductive hearing impairment is the other main classi?cation. Here there is an abnormality of the external or middle ear, preventing the normal transmission of sound waves to the inner ear. This is most commonly due to chronic otitis media where there is in?ammation of the middle ear, often with a perforation of the ear drum. It is thought that in the majority of cases this is a sequela of childhood middle-ear disease. Many preschool children suffer temporary hearing loss because of otitis media with e?usion (glue ear). Wax does not interfere with hearing unless it totally obstructs the ear canal or is impacted against the tympanic membrane. (See also EAR; EAR, DISEASES OF.)
Treatment Conductive hearing impairment can, in many cases, be treated by an operation on the middle ear or by the use of a hearing aid. Sensorineural hearing impairments can be treated only with a hearing aid. In the UK, hearing aids are available free on the NHS. Most NHS hearing aids are ear-level hearing aids – that is, they ?t behind the ear with the sound transmitted to the ear via a mould in the external ear. Smaller hearing aids are available which ?t within the ear itself, and people can wear such aids in both ears. The use of certain types of hearing aid may be augmented by ?ttings incorporated into the aid which pick up sound directly from television sets or from telephones, and from wire loop systems in halls, lecture theatres and classrooms. More recently, bone-anchored hearing aids have been developed where the hearing aid is attached directly to the bones of the skull using a titanium screw. This type of hearing aid is particularly useful in children with abnormal or absent ear canals who cannot therefore wear conventional hearing aids. People with hearing impairment should seek audiological or medical advice before purchasing any of the many types of hearing aid available commercially. Those people with a hearing impairment which is so profound (‘stone deaf’) that they cannot be helped by a hearing aid can sometimes now be ?tted with an electrical implant in their inner ear (a cochlear implant).
Congenital hearing loss accounts for a very small proportion of the hearing-impaired population. It is important to detect at an early stage as, if undetected and unaided, it may lead to delayed or absent development of speech. Otitis media with e?usion (glue ear) usually resolves spontaneously, although if it persists, surgical intervention has been the traditional treatment involving insertion of a ventilation tube (see GROMMET) into the ear drum, often combined with removal of the adenoids (see NOSE, DISORDERS OF). Recent studies, however, suggest that in many children these operations may provide only transient relief and make no di?erence to long-term outcome.
Advice and information on deafness and hearing aids may be obtained from the Royal National Institute for Deaf People and other organisations.... deafness
Astigmatism (See ASTIGMATISM.)
Blepharitis A chronic in?ammation of the lid margins. SEBORRHOEA and staphylococcal infection are likely contributors. The eyes are typically intermittently red, sore and gritty over months or years. Treatment is di?cult and may fail. Measures to reduce debris on the lid margins, intermittent courses of topical antibiotics, steroids or systemic antibiotics may help the sufferer.
Blepharospasm Involuntary closure of the eye. This may accompany irritation but may also occur without an apparent cause. It may be severe enough to interfere with vision. Treatment involves removing the source of irritation, if present. Severe and persistent cases may respond to injection of Botulinum toxin into the orbicularis muscle.
Cataract A term used to describe any opacity in the lens of the eye, from the smallest spot to total opaqueness. The prevalence of cataracts is age-related: 65 per cent of individuals in their sixth decade have some degree of lens opacity, while all those over 80 are affected. Cataracts are the most important cause of blindness worldwide. Symptoms will depend on whether one or both eyes are affected, as well as the position and density of the cataract(s). If only one eye is developing a cataract, it may be some time before the person notices it, though reading may be affected. Some people with cataracts become shortsighted, which in older people may paradoxically ‘improve’ their ability to read. Bright light may worsen vision in those with cataracts.
The extent of visual impairment depends on the nature of the cataracts, and the ?rst symptoms noticed by patients include di?culty in recognising faces and in reading, while problems watching television or driving, especially at night, are pointers to the condition. Cataracts are common but are not the only cause of deteriorating vision. Patients with cataracts should be able to point to the position of a light and their pupillary reactions should be normal. If a bright light is shone on the eye, the lens may appear brown or, in advanced cataracts, white (see diagram).
While increasing age is the commonest cause of cataract in the UK, patients with DIABETES MELLITUS, UVEITIS and a history of injury to the eye can also develop the disorder. Prolonged STEROID treatment can result in cataracts. Children may develop cataracts, and in them the condition is much more serious as vision may be irreversibly impaired because development of the brain’s ability to interpret visual signals is hindered. This may happen even if the cataracts are removed, so early referral for treatment is essential. One of the physical signs which doctors look for when they suspect cataract in adults as well as in children is the ‘red re?ex’. This is observable when an ophthalmoscopic examination of the eye is made (see OPHTHALMOSCOPE). Identi?cation of this red re?ex (a re?ection of light from the red surface of the retina –see EYE) is a key diagnostic sign in children, especially young ones.
There is no e?ective medical treatment for established cataracts. Surgery is necessary and the decision when to operate depends mainly on how the cataract(s) affect(s) the patient’s vision. Nowadays, surgery can be done at any time with limited risk. Most patients with a vision of 6/18 – 6/10 is the minimum standard for driving – or worse in both eyes should
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bene?t from surgery, though elderly people may tolerate visual acuity of 6/18 or worse, so surgery must be tailored to the individual’s needs. Younger people with a cataract will have more demanding visual requirements and so may opt for an ‘earlier’ operation. Most cataract surgery in Britain is now done under local anaesthetic and uses the ‘phaco-emulsi?cation’ method. A small hole is made in the anterior capsule of the lens after which the hard lens nucleus is liqui?ed ultrasonically. A replacement lens is inserted into the empty lens bag (see diagram). Patients usually return to their normal activities within a few days of the operation. A recent development under test in the USA for children requiring cataract operations is an intra-ocular ?exible implant whose magnifying power can be altered as a child develops, thus precluding the need for a series of corrective operations as happens now.
Chalazion A ?rm lump in the eyelid relating to a blocked meibomian gland, felt deep within the lid. Treatment is not always necessary; a proportion spontaneously resolve. There can be associated infection when the lid becomes red and painful requiring antibiotic treatment. If troublesome, the chalazion can be incised under local anaesthetic.
Conjunctivitis In?ammation of the conjunctiva (see EYE) which may affect one or both eyes. Typically the eye is red, itchy, sticky and gritty but is not usually painful. Redness is not always present. Conjunctivitis can occasionally be painful, particularly if there is an associated keratitis (see below) – for example, adenovirus infection, herpetic infection.
The cause can be infective (bacteria, viruses or CHLAMYDIA), chemical (e.g. acids, alkalis) or allergic (e.g. in hay fever). Conjunctivitis may also be caused by contact lenses, and preservatives or even the drugs in eye drops may cause conjunctival in?ammation. Conjunctivitis may addtionally occur in association with other illnesses – for example, upper-respiratory-tract infection, Stevens-Johnson syndrome (see ERYTHEMA – erythema multiforme) or REITER’S SYNDROME. The treatment depends on the cause. In many patients acute conjunctivitis is self-limiting.
Dacryocystitis In?ammation of the lacrimal sac. This may present acutely as a red, painful swelling between the nose and the lower lid. An abscess may form which points through the skin and which may need to be drained by incision. Systemic antibiotics may be necessary. Chronic dacryocystitis may occur with recurrent discharge from the openings of the tear ducts and recurrent swelling of the lacrimal sac. Obstruction of the tear duct is accompanied by watering of the eye. If the symptoms are troublesome, the patient’s tear passageways need to be surgically reconstructed.
Ectropion The lid margin is everted – usually the lower lid. Ectropion is most commonly associated with ageing, when the tissues of the lid become lax. It can also be caused by shortening of the skin of the lids such as happens with scarring or mechanical factors – for example, a tumour pulling the skin of the lower lid downwards. Ectropion tends to cause watering and an unsightly appearance. The treatment is surgical.
Entropion The lid margin is inverted – usually the lower lid. Entropion is most commonly associated with ageing, when the tissues of the lid become lax. It can also be caused by shortening of the inner surfaces of the lids due to scarring – for example, TRACHOMA or chemical burns. The inwardly directed lashes cause irritation and can abrade the cornea. The treatment is surgical.
Episcleritis In?ammation of the EPISCLERA. There is usually no apparent cause. The in?ammation may be di?use or localised and may affect one or both eyes. It sometimes recurs. The affected area is usually red and moderately painful. Episcleritis is generally not thought to be as painful as scleritis and does not lead to the same complications. Treatment is generally directed at improving the patient’s symptoms. The in?ammation may respond to NON-STEROIDAL ANTI-INFLAMMATORY DRUGS (NSAIDS) or topical CORTICOSTEROIDS.
Errors of refraction (Ametropia.) These will occur when the focusing power of the lens and cornea does not match the length of the eye, so that rays of light parallel to the visual axis are not focused at the fovea centralis (see EYE). There are three types of refractive error: HYPERMETROPIA or long-sightedness. The refractive power of the eye is too weak, or the eye is too short so that rays of light are brought to a focus at a point behind the retina. Longsighted people can see well in the distance but generally require glasses with convex lenses for reading. Uncorrected long sight can lead to headaches and intermittent blurring of vision following prolonged close work (i.e. eye strain). As a result of ageing, the eye becomes gradually long-sighted, resulting in many people needing reading glasses in later life: this normal process is known as presbyopia. A particular form of long-sightedness occurs after cataract extraction (see above). MYOPIA(Short sight or near sight.) Rays of light are brought to a focus in front of the retina because the refractive power of the eye is too great or the eye is too short. Short-sighted people can see close to but need spectacles with concave lenses in order to see in the distance. ASTIGMATISMThe refractive power of the eye is not the same in each meridian. Some rays of light may be focused in front of the retina while others are focused on or behind the retina. Astigmatism can accompany hypermetropia or myopia. It may be corrected by cylindrical lenses: these consist of a slice from the side of a cylinder (i.e. curved in one meridian and ?at in the meridian at right-angles to it).
Keratitis In?ammation of the cornea in response to a variety of insults – viral, bacterial, chemical, radiation, or mechanical trauma. Keratitis may be super?cial or involve the deeper layers, the latter being generally more serious. The eye is usually red, painful and photophobic. Treatment is directed at the cause.
Nystagmus Involuntary rhythmic oscillation of one or both eyes. There are several causes including nervous disorders, vestibular disorders, eye disorders and certain drugs including alcohol.
Ophthalmia In?ammation of the eye, especially the conjunctiva (see conjunctivitis, above). Ophthalmia neonatorum is a type of conjunctivitis that occurs in newborn babies. They catch the disease when passing through an infected birth canal during their mother’s labour (see PREGNANCY AND LABOUR). CHLAMYDIA and GONORRHOEA are the two most common infections. Treatment is e?ective with antibiotics: untreated, the infection may cause permanent eye damage.
Pinguecula A benign degenerative change in the connective tissue at the nasal or temporal limbus (see EYE). This is visible as a small, ?attened, yellow-white lump adjacent to the cornea.
Pterygium Overgrowth of the conjunctival tissues at the limbus on to the cornea (see EYE). This usually occurs on the nasal side and is associated with exposure to sunlight. The pterygium is surgically removed for cosmetic reasons or if it is thought to be advancing towards the visual axis.
Ptosis Drooping of the upper lid. May occur because of a defect in the muscles which raise the lid (levator complex), sometimes the result of ageing or trauma. Other causes include HORNER’S SYNDROME, third cranial nerve PALSY, MYASTHENIA GRAVIS, and DYSTROPHIA MYOTONICA. The cause needs to be determined and treated if possible. The treatment for a severely drooping lid is surgical, but other measures can be used to prop up the lid with varying success.
Retina, disorders of The retina can be damaged by disease that affects the retina alone, or by diseases affecting the whole body.
Retinopathy is a term used to denote an abnormality of the retina without specifying a cause. Some retinal disorders are discussed below. DIABETIC RETINOPATHY Retinal disease occurring in patients with DIABETES MELLITUS. It is the commonest cause of blind registration in Great Britain of people between the ages of 20 and 65. Diabetic retinopathy can be divided into several types. The two main causes of blindness are those that follow: ?rst, development of new blood vessels from the retina, with resultant complications and, second, those following ‘water logging’ (oedema) of the macula. Treatment is by maintaining rigid control of blood-sugar levels combined with laser treatment for certain forms of the disease – in particular to get rid of new blood vessels. HYPERTENSIVE RETINOPATHY Retinal disease secondary to the development of high blood pressure. Treatment involves control of the blood pressure (see HYPERTENSION). SICKLE CELL RETINOPATHY People with sickle cell disease (see under ANAEYIA) can develop a number of retinal problems including new blood vessels from the retina. RETINOPATHY OF PREMATURITY (ROP) Previously called retrolental ?broplasia (RLF), this is a disorder affecting low-birth-weight premature babies exposed to oxygen. Essentially, new blood vessels develop which cause extensive traction on the retina with resultant retinal detachment and poor vision. RETINAL ARTERY OCCLUSION; RETINAL VEIN OCCLUSION These result in damage to those areas of retina supplied by the affected blood vessel: the blood vessels become blocked. If the peripheral retina is damaged the patient may be completely symptom-free, although areas of blindness may be detected on examination of ?eld of vision. If the macula is involved, visual loss may be sudden, profound and permanent. There is no e?ective treatment once visual loss has occurred. SENILE MACULAR DEGENERATION (‘Senile’ indicates age of onset and has no bearing on mental state.) This is the leading cause of blindness in the elderly in the western world. The average age of onset is 65 years. Patients initially notice a disturbance of their vision which gradually progresses over months or years. They lose the ability to recognise ?ne detail; for example, they cannot read ?ne print, sew, or recognise people’s faces. They always retain the ability to recognise large objects such as doors and chairs, and are therefore able to get around and about reasonably well. There is no e?ective treatment in the majority of cases. RETINITIS PIGMENTOSAA group of rare, inherited diseases characterised by the development of night blindness and tunnel vision. Symptoms start in childhood and are progressive. Many patients retain good visual acuity, although their peripheral vision is limited. One of the characteristic ?ndings on examination is collections of pigment in the retina which have a characteristic shape and are therefore known as ‘bone spicules’. There is no e?ective treatment. RETINAL DETACHMENTusually occurs due to the development of a hole in the retina. Holes can occur as a result of degeneration of the retina, traction on the retina by the vitreous, or injury. Fluid from the vitreous passes through the hole causing a split within the retina; the inner part of the retina becomes detached from the outer part, the latter remaining in contact with the choroid. Detached retina loses its ability to detect light, with consequent impairment of vision. Retinal detachments are more common in the short-sighted, in the elderly or following cataract extraction. Symptoms include spots before the eyes (?oaters), ?ashing lights and a shadow over the eye with progressive loss of vision. Treatment by laser is very e?ective if caught early, at the stage when a hole has developed in the retina but before the retina has become detached. The edges of the hole can be ‘spot welded’ to the underlying choroid. Once a detachment has occurred, laser therapy cannot be used; the retina has to be repositioned. This is usually done by indenting the wall of the eye from the outside to meet the retina, then making the retina stick to the wall of the eye by inducing in?ammation in the wall (by freezing it). The outcome of surgery depends largely on the extent of the detachment and its duration. Complicated forms of detachment can occur due to diabetic eye disease, injury or tumour. Each requires a specialised form of treatment.
Scleritis In?ammation of the sclera (see EYE). This can be localised or di?use, can affect the anterior or the posterior sclera, and can affect one or both eyes. The affected eye is usually red and painful. Scleritis can lead to thinning and even perforation of the sclera, sometimes with little sign of in?ammation. Posterior scleritis in particular may cause impaired vision and require emergency treatment. There is often no apparent cause, but there are some associated conditions – for example, RHEUMATOID ARTHRITIS, GOUT, and an autoimmune disease affecting the nasal passages and lungs called Wegener’s granulomatosis. Treatment depends on severity but may involve NON-STEROIDAL ANTI-INFLAMMATORY DRUGS (NSAIDS), topical CORTICOSTEROIDS or systemic immunosuppressive drugs.
Stye Infection of a lash follicle. This presents as a painful small red lump at the lid margin. It often resolves spontaneously but may require antibiotic treatment if it persists or recurs.
Sub-conjunctival haemorrhage Haemorrhage between the conjunctiva and the underlying episclera. It is painless. There is usually no apparent cause and it resolves spontaneously.
Trichiasis Inward misdirection of the lashes. Trichiasis occurs due to in?ammation of or trauma to the lid margin. Treatment involves removal of the patient’s lashes. Regrowth may be prevented by electrolysis, by CRYOTHERAPY to the lid margin, or by surgery.
For the subject of arti?cial eyes, see under PROSTHESIS; also GLAUCOMA, SQUINT and UVEITIS.... eye, disorders of
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
Children with Down’s syndrome are usually friendly and ?t in well with the family. Despite their learning disabilities, some learn to read and, if they have appropriate educational and environmental stimulation, can make the most of their abilities.
A heart defect is present in around 25 per cent of the children at birth, and deafness and acute LEUKAEMIA occur more frequently than in unaffected youngsters. Those with the syndrome are particularly prone to developing ear infections. ATHEROSCLEROSIS often develops early in adults and ALZHEIMER’S DISEASE tends to occur as early as 40 years of age. A friendly home environment helps them to enjoy life, but a few individuals with the syndrome may eventually require institutional care. Improved social and medical care means that many now live until their 60s.
Routine screening tests early in pregnancy, starting with blood analysis but going on if necessary to AMNIOCENTESIS and chorionic villus sampling (see PRENATAL SCREENING OR DIAGNOSIS), can identify fetuses likely to develop the disorder. If a sample of fetal cells con?rms the chromosome defect (triple marker test – see PREGNANCY AND LABOUR), the parents may consider termination of the pregnancy. In the UK, screening is normally o?ered to women over 35 because of their increased risk. When younger parents have a child with Down’s syndrome, the chances of a subsequent child with the disorder are relatively high as it is probable that both parents carry a chromosome abnormality insu?cient to cause ill-health until combined. So they may wish to discuss with their medical advisers the question of further pregnancies.
Parents who have a child with Down’s syndrome will understandably feel a combination of strong emotions, including anger and guilt, and constructive counselling can be valuable. Among societies o?ering advice and support is the Down’s Syndrome Association.... down’s (down) syndrome
Patients often have a poor sleep pattern, waking exhausted. Unexplained headache, urinary frequency and abdominal symptoms are common, but no cause has been found. Patients generally score highly on measures of anxiety and DEPRESSION. Fibromyalgia is not an ideal description; idiopathic di?use-pain syndrome and non-restorative sleep disorder are increasingly preferred terms.
Clinical ?ndings are generally unremarkable; most important is the presence of multiple hyperalgesic tender sites (e.g. low cervical spine, low lumbar spine, suboccipital muscle, mid upper trapezius, tennis-elbow sites, upper outer quadrants of buttocks, medial fat pad of knees). In ?bromyalgia, hyperalgesia (excessive discomfort) is widespread and symmetrical, but absent at sites normally non-tender. Claims by patients to be tender all over are more likely to be due to fabrication or psychiatric disturbance. OSTEOARTHRITIS and periarticular syndrome are much more common and should be excluded, together with other conditions, such as hypothyroidism (see THYROID GLAND, DISEASES OF), SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) and in?ammatory myopathy (see MUSCLES, DISORDERS OF), which may present with similar symptoms.
Cause There is no investigational evidence of in?ammatory, metabolic or structural abnormality, and the problem seems functional rather than pathological. SEROTONIN de?ciency has a signi?cant role in ?bromyalgia syndrome.
Management Controlled trials have con?rmed the usefulness of low-dose AMITRIPTYLINE or DOTHIEPIN together with a graded exercise programme to increase aerobic ?tness. How this works is still unclear; its e?cacy may be due to its normalising effects on the sleep centre or ‘pain gating’ (reduction of pain sensation) at the spinal-cord level. Prognosis is often poor. Nevertheless, suitable advice and training can help most patients to learn to cope better with their condition and avoid unnecessary investigations and drug treatments.... fibromyalgia syndrome
An oral drug for treating erectile function is sildena?l citrate (Viagra®), the ?rst in a new class of drugs called phosphodiesterase type 5 inhibitors, also including tadala?l (Cialis®) and vardena?l (Levitra®). They work by improving blood ?ow to the penis. They can be taken an hour before intercourse (up to 12 hours before, in the case of tadala?l). These drugs are not aphrodisiacs, and side-effects include headache, facial ?ushing and indigestion. There are some suggestions that they may affect retinal function.
Intracavernosal injection or urethral application of alprostadil, a drug which increases local blood supply to the penis, has been used for some years under medical supervision, but success has been variable and oral sildena?l seems to be a more convenient and e?ective treatment for a man with this disorder.... impotence
Cramp Painful spasm of a muscle usually caused by excessive and prolonged contraction of the muscle ?bres. Cramps are common, especially among sportsmen and women, normally lasting a short time. The condition usually occurs during or immediately following exercise as a result of a build-up of LACTIC ACID and other chemical by-products in the muscles
– caused by the muscular e?orts. Cramps may occur more frequently, especially at night, in people with poor circulation, when the blood is unable to remove the lactic acid from the muscles quickly enough.
Repetitive movements such as writing (writer’s cramp) or operating a keyboard can cause cramp. Resting muscles may suffer cramp if a person sits or lies in an awkward position which limits local blood supply to them. Profuse sweating as a result of fever or hot weather can also cause cramp in resting muscle, because the victim has lost sodium salts in the sweat; this disturbs the biochemical balance in muscle tissue.
Treatment is to massage and stretch the affected muscle – for example, cramp in the calf muscle may be relieved by pulling the toes on the affected leg towards the knee. Persistent night cramps sometimes respond to treatment with a drug containing CALCIUM or QUININE. If cramp persists for an hour or more, the person should seek medical advice, as there may be a serious cause such as a blood clot impeding the blood supply to the area affected.
Dystrophy See myopathy below.
In?ammation (myositis) of various types may occur. As the result of injury, an ABSCESS may develop, although wounds affecting muscle generally heal well. A growth due to SYPHILIS, known as a gumma, sometimes forms a hard, almost painless swelling in a muscle. Rheumatism is a vague term traditionally used to de?ne intermittent and often migratory discomfort, sti?ness or pain in muscles and joints with no obvious cause. The most common form of myositis is the result of immunological damage as a result of autoimmune disease. Because it affects many muscles it is called POLYMYOSITIS.
Myasthenia (see MYASTHENIA GRAVIS) is muscle weakness due to a defect of neuromuscular conduction.
Myopathy is a term applied to an acquired or developmental defect in certain muscles. It is not a neurological disease, and should be distinguished from neuropathic conditions (see NEUROPATHY) such as MOTOR NEURONE DISEASE (MND), which tend to affect the distal limb muscles. The main subdivisions are genetically determined, congenital, metabolic, drug-induced, and myopathy (often in?ammatory) secondary to a distant carcinoma. Progressive muscular dystrophy is characterised by symmetrical wasting and weakness, the muscle ?bres being largely replaced by fatty and ?brous tissue, with no sensory loss. Inheritance may take several forms, thus affecting the sex and age of victims.
The commonest type is DUCHENNE MUSCULAR DYSTROPHY, which is inherited as a sex-linked disorder. It nearly always occurs in boys.
Symptoms There are three chief types of myopathy. The commonest, known as pseudohypertrophic muscular dystrophy, affects particularly the upper part of the lower limbs of children. The muscles of the buttocks, thighs and calves seem excessively well developed, but nevertheless the child is clumsy, weak on his legs, and has di?culty in picking himself up when he falls. In another form of the disease, which begins a little later, as a rule at about the age of 14, the muscles of the upper arm are ?rst affected, and those of the spine and lower limbs become weak later on. In a third type, which begins at about this age, the muscles of the face, along with certain of the shoulder and upper arm muscles, show the ?rst signs of wasting. All the forms have this in common: that the affected muscles grow weaker until their power to contract is quite lost. In the ?rst form, the patients seldom reach the age of 20, falling victims to some disease which, to ordinary people, would not be serious. In the other forms the wasting, after progressing to a certain extent, often remains stationary for the rest of life. Myopathy may also be acquired when it is the result of disease such as thyrotoxicosis (see under THYROID GLAND, DISEASES OF), osteomalacia (see under BONE, DISORDERS OF) and CUSHING’S DISEASE, and the myopathy resolves when the primary disease is treated.
Treatment Some myopathies may be the result of in?ammation or arise from an endocrine or metabolic abnormality. Treatment of these is the treatment of the cause, with supportive physiotherapy and any necessary physical aids while the patient is recovering. Treatment for the hereditary myopathies is supportive since, at present, there is no cure – although developments in gene research raise the possibility of future treatment. Physiotherapy, physical aids, counselling and support groups may all be helpful in caring for these patients.
The education and management of these children raise many diffculties. Much help in dealing with these problems can be obtained from Muscular Dystrophy Campaign.
Myositis ossi?cans, or deposition of bone in muscles, may be congenital or acquired. The congenital form, which is rare, ?rst manifests itself as painful swellings in the muscles. These gradually harden and extend until the child is encased in a rigid sheet. There is no e?ective treatment and the outcome is fatal.
The acquired form is a result of a direct blow on muscle, most commonly on the front of the thigh. The condition should be suspected whenever there is severe pain and swelling following a direct blow over muscle. The diagnosis is con?rmed by hardening of the swelling. Treatment consists of short-wave DIATHERMY with gentle active movements. Recovery is usually complete.
Pain, quite apart from any in?ammation or injury, may be experienced on exertion. This type of pain, known as MYALGIA, tends to occur in un?t individuals and is relieved by rest and physiotherapy.
Parasites sometimes lodge in the muscles, the most common being Trichinella spiralis, producing the disease known as TRICHINOSIS (trichiniasis).
Rupture of a muscle may occur, without any external wound, as the result of a spasmodic e?ort. It may tear the muscle right across – as sometimes happens to the feeble plantaris muscle in running and leaping – or part of the muscle may be driven through its ?brous envelope, forming a HERNIA of the muscle. The severe pain experienced in many cases of LUMBAGO is due to tearing of one of the muscles in the back. These conditions are usually relieved by rest and massage. Partial muscle tears, such as occur in sport, require more energetic treatment: in the early stages this consists of the application of an ice or cold-water pack, ?rm compression, elevation of the affected limb, rest for a day or so and then gradual mobilisation (see SPORTS MEDICINE).
Tumours occur occasionally, the most common being ?broid, fatty, and sarcomatous growths.
Wasting of muscles sometimes occurs as a symptom of disease in other organs: for example, damage to the nervous system, as in poliomyelitis or in the disease known as progressive muscular atrophy. (See PARALYSIS.)... muscles, disorders of
The causes of perinatal mortality include extreme prematurity, intrapartum anoxia (that is, di?culty in the birth of the baby, resulting in lack of oxygen), congenital abnormalities of the baby, and antepartum anoxia (that is, conditions in the terminal stages of pregnancy preventing the fetus from getting su?cient oxygen).
The most common cause of perinatal death is some complication of placenta, cord or membranes. The next most common is congenital abnormality. Intrauterine hypoxia and birth asphyxia comprise the third most common cause.... perinatal mortality
Pregnancy lasts about 280 days and is calculated from the ?rst day of the last menstrual period – see MENSTRUATION. Pregnancy-testing kits rely on the presence of the hormone beta HUMAN CHORIONIC GONADOTROPHIN (b HCG) which is excreted in the woman’s urine as early as 30 days from the last menstrual period. The estimated date of delivery can be accurately estimated from the size of the developing fetus measured by ULTRASOUND (see also below) between seven and 24 weeks. ‘Term’ refers to the time that the baby is due; this can range from 38 weeks to 41 completed weeks.
Physical changes occur in early pregnancy – periods stop and the abdomen enlarges. The breasts swell, with the veins becoming prominent and the nipples darkening. About two in three women will have nausea with a few experiencing such severe vomiting as to require hospital admission for rehydration.
Antenatal care The aim of antenatal care is to ensure a safe outcome for both mother and child; it is provided by midwives (see MIDWIFE) and doctors. Formal antenatal care began in Edinburgh in the 1930s with the recognition that all aspects of pregnancy – normal and abnormal – warranted surveillance. Cooperation between general practitioners, midwives and obstetricians is now established, with pregnancies that are likely to progress normally being cared for in the community and only those needing special intervention being cared for in a hospital setting.
The initial visit (or booking) in the ?rst half of pregnancy will record the history of past events and the results of tests, with the aim of categorising the patients into normal or not. Screening tests including blood checks and ultrasound scans are a routine part of antenatal care. The ?rst ultrasound scan is done at about 11 weeks to date the pregnancy, with a further one done at 20 weeks – the anomaly scan – to assess the baby’s structure. Some obstetric units will check the growth of the baby with one further scan later in the pregnancy or, in the case of twin pregnancies (see below), many scans throughout. The routine blood tests include checks for ANAEMIA, DIABETES MELLITUS, sickle-cell disease and THALASSAEMIA, as well as for the blood group. Evidence of past infections is also looked for; tests for RUBELLA (German measles) and SYPHILIS are routine, whereas tests for human immunode?ciency virus (see AIDS/ HIV below) and HEPATITIS are being o?ered as optional, although there is compelling evidence that knowledge of the mother’s infection status is bene?cial to the baby.
Traditional antenatal care consists of regular appointments, initially every four weeks until 34 weeks, then fortnightly or weekly. At each visit the mother’s weight, urine and blood pressure are checked, and assessment of fetal growth and position is done by palpating the uterus. Around two-thirds of pregnancies and labours are normal: in the remainder, doctors and midwives need to increase the frequency of surveillance so as to prevent or deal with maternal and fetal problems.
Common complications of pregnancy
Some of the more common complications of pregnancy are listed below.
As well as early detection of medical complications, antenatal visits aim to be supportive and include emotional and educational care. Women with uncomplicated pregnancies are increasingly being managed by midwives and general practitioners in the community and only coming to the hospital doctors should they develop a problem. A small number will opt for a home delivery, but facilities for providing such a service are not always available in the UK.
Women requiring more intensive surveillance have their management targeted to the speci?c problems encountered. Cardiologists will see mothers-to-be with heart conditions, and those at risk of diabetes are cared for in designated clinics with specialist sta?. Those women needing more frequent surveillance than standard antenatal care can be looked after in maternity day centres. These typically include women with mildly raised blood pressure or those with small babies. Fetal medicine units have specialists who are highly skilled in ultrasound scanning and specialise in the diagnosis and management of abnormal babies still in the uterus. ECTOPIC PREGNANCY Chronic abdominal discomfort early in pregnancy may be caused by unruptured ectopic pregnancy, when, rarely, the fertilised OVUM starts developing in the Fallopian tube (see FALLOPIAN TUBES) instead of the uterus. The patient needs hospital treatment and LAPAROSCOPY. A ruptured ectopic pregnancy causes acute abdominal symptoms and collapse, and the woman will require urgent abdominal surgery. URINARY TRACT INFECTIONS These affect around 2 per cent of pregnant women and are detected by a laboratory test of a mid-stream specimen of urine. In pregnancy, symptoms of these infections do not necessarily resemble those experienced by non-pregnant women. As they can cause uterine irritability and possible premature labour (see below), it is important to ?nd and treat them appropriately. ANAEMIA is more prevalent in patients who are vegetarian or on a poor diet. Iron supplements are usually given to women who have low concentrations of HAEMOGLOBIN in their blood (less than 10.5 g/dl) or who are at risk of becoming low in iron, from bleeding, twin pregnancies and those with placenta previa (see below). ANTEPARTUM HAEMORRHAGE Early in pregnancy, vaginal bleedings may be due to a spontaneous or an incomplete therapeutic ABORTION. Bleeding from the genital tract between 24 completed weeks of pregnancy and the start of labour is called antepartum haemorrhage. The most common site is where the PLACENTA is attached to the wall of the uterus. If the placenta separates before delivery, bleeding occurs in the exposed ‘bed’. When the placenta is positioned in the upper part of the uterus it is called an abruption. PLACENTA PRAEVIA is sited in the lower part and blocks or partly blocks the cervix (neck of the womb); it can be identi?ed at about the 34th week. Ten per cent of episodes of antepartum bleeding are caused by placenta previa, and it may be associated with bleeding at delivery. This potentially serious complication is diagnosed by ultrasound scanning and may require a caesarean section (see below) at delivery. INCREASED BLOOD PRESSURE, associated with protein in the urine and swelling of the limbs, is part of a condition known as PRE-ECLAMPSIA. This occurs in the second half of pregnancy in about 1 in 10 women expecting their ?rst baby, and is mostly very mild and of no consequence to the pregnancy. However, some women can develop extremely high blood pressures which can adversely affect the fetus and cause epileptic-type seizures and bleeding disorders in the mother. This serious condition is called ECLAMPSIA. For this reason a pregnant woman with raised blood pressure or PROTEIN in her urine is carefully evaluated with blood tests, often in the maternity day assessment unit. The condition can be stopped by delivery of the baby, and this will be done if the mother’s or the fetus’s life is in danger. If the condition is milder, and the baby not mature enough for a safe delivery, then drugs can be used to control the blood pressure. MISCARRIAGE Also called spontaneous abortion, miscarriage is the loss of the fetus. There are several types:
threatened miscarriage is one in which some vaginal bleeding occurs, the uterus is enlarged, but the cervix remains closed and pregnancy usually proceeds.
inevitable miscarriage usually occurs before the 16th week and is typi?ed by extensive blood loss through an opened cervix and cramp-like abdominal pain; some products of conception are lost but the developing placental area (decidua) is retained and an operation may be necessary to clear the womb.
missed miscarriages, in which the embryo dies and is absorbed, but the decidua (placental area of uterine wall) remains and may cause abdominal discomfort and discharge of old blood.
THERAPEUTIC ABORTION is performed on more than 170,000 women annually in England and Wales. Sometimes the woman may not have arranged the procedure through the usual health-care channels, so that a doctor may see a patient with vaginal bleeding, abdominal discomfort or pain, and open cervix – symptoms which suggest that the decidua and a blood clot have been retained; these retained products will need to be removed by curettage.
Septic abortions are now much less common in Britain than before the Abortion Act (1967) permitted abortion in speci?ed circumstances. The cause is the passage of infective organisms from the vagina into the uterus, with Escherichia coli and Streptococcus faecalis the most common pathogenic agents. The woman has abdominal pain, heavy bleeding, usually fever and sometimes she is in shock. The cause is usually an incomplete abortion or one induced in unsterile circumstances. Antibiotics and curettage are the treatment. INTRAUTERINE GROWTH RETARDATION describes a slowing of the baby’s growth. This can be diagnosed by ultrasound scanning, although there is a considerable margin of error in estimates of fetal weight. Trends in growth are favoured over one-o? scan results alone. GESTATIONAL DIABETES is a condition that is more common in women who are overweight or have a family member with diabetes. If high concentrations of blood sugar are found, e?orts are made to correct it as the babies can become very fat (macrosomia), making delivery more di?cult. A low-sugar diet is usually enough to control the blood concentration of sugars; however some women need small doses of INSULIN to achieve control. FETAL ABNORMALITIES can be detected before birth using ultrasound. Some of these defects are obvious, such as the absence of kidneys, a condition incompatible with life outside the womb. These women can be o?ered a termination of their pregnancy. However, more commonly, the pattern of problems can only hint at an abnormality and closer examination is needed, particularly in the diagnosis of chromosomal deformities such as DOWN’S (DOWN) SYNDROME (trisomy 21 or presence of three 21 chromosomes instead of two).
Chromosomal abnormalities can be de?nitively diagnosed only by cell sampling such as amniocentesis (obtaining amniotic ?uid – see AMNION – from around the baby) done at 15 weeks onwards, and chorionic villus sampling (sampling a small part of the placenta) – another technique which can be done from 12 weeks onwards. Both have a small risk of miscarriage associated with them; consequently, they are con?ned to women at higher risk of having an abnormal fetus.
Biochemical markers present in the pregnant woman’s blood at di?erent stages of pregnancy may have undergone changes in those carrying an abnormal fetus. The ?rst such marker to be routinely used was a high concentration of alpha-fetol protein in babies with SPINA BIFIDA (defects in the covering of the spinal cord). Fuller research has identi?ed a range of diagnostic markers which are useful, and, in conjunction with other factors such as age, ethnic group and ultrasound ?ndings, can provide a predictive guide to the obstetrician – in consultation with the woman – as to whether or not to proceed to an invasive test. These tests include pregnancy-associated plasma protein assessed from a blood sample taken at 12 weeks and four blood tests at 15–22 weeks – alphafetol protein, beta human chorionic gonadotrophin, unconjugated oestriol and inhibin A. Ultrasound itself can reveal physical ?ndings in the fetus, which can be more common in certain abnormalities. Swelling in the neck region of an embryo in early pregnancy (increased nuchal thickness) has good predictive value on its own, although its accuracy is improved in combination with the biochemical markers. The e?ectiveness of prenatal diagnosis is rapidly evolving, the aim being to make the diagnosis as early in the pregnancy as possible to help the parents make more informed choices. MULTIPLE PREGNANCIES In the UK, one in 95 deliveries is of twins, while the prevalence of triplets is one in 10,000 and quadruplets around one in 500,000. Racial variations occur, with African women having a prevalence rate of one in 30 deliveries for twins and Japanese women a much lower rate than the UK ?gure. Multiple pregnancies occur more often in older women, and in the UK the prevalence of fertility treatments, many of these being given to older women, has raised the incidence. There is now an o?cial limit of three eggs being transferred to a woman undergoing ASSISTED CONCEPTION (gamete intrafallopian transfer, or GIFT).
Multiple pregnancies are now usually diagnosed as a result of routine ultrasound scans between 16 and 20 weeks of pregnancy. The increased size of the uterus results in the mother having more or worse pregnancy-related conditions such as nausea, abdominal discomfort, backache and varicose veins. Some congenital abnormalities in the fetus occur more frequently in twins: NEURAL TUBE defects, abnormalities of the heart and the incidence of TURNER’S SYNDROME and KLINEFELTER’S SYNDROME are examples. Such abnormalities may be detected by ultrasound scans or amniocentesis. High maternal blood pressure and anaemia are commoner in women with multiple pregnancies (see above).
The growth rates of multiple fetuses vary, but the di?erence between them and single fetuses are not that great until the later stages of pregnancy. Preterm labour is commoner in multiple pregnancies: the median length of pregnancy is 40 weeks for singletons, 37 for twins and 33 for triplets. Low birth-weights are usually the result of early delivery rather than abnormalities in growth rates. Women with multiple pregnancies require more frequent and vigilant antenatal assessments, with their carers being alert to the signs of preterm labour occurring. CEPHALOPELVIC DISPROPORTION Disparity between the size of the fetus and the mother’s pelvis is not common in the UK but is a signi?cant problem in the developing world. Disparity is classi?ed as absolute, when there is no possibility of delivery, and relative, when the baby is large but delivery (usually after a dif?cult labour) is possible. Causes of absolute disparity include: a large baby – heavier than 5 kg at birth; fetal HYDROCEPHALUS; and an abnormal maternal pelvis. The latter may be congenital, the result of trauma or a contraction in pelvic size because of OSTEOMALACIA early in life. Disproportion should be suspected if in late pregnancy the fetal head has not ‘engaged’ in the pelvis. Sometimes a closely supervised ‘trial of labour’ may result in a successful, if prolonged, delivery. Otherwise a caesarean section (see below) is necessary. UNUSUAL POSITIONS AND PRESENTATIONS OF THE BABY In most pregnant women the baby ?ts into the maternal pelvis head-?rst in what is called the occipito-anterior position, with the baby’s face pointing towards the back of the pelvis. Sometimes, however, the head may face the other way, or enter the pelvis transversely – or, rarely, the baby’s neck is ?exed backwards with the brow or face presenting to the neck of the womb. Some malpositions will correct naturally; others can be manipulated abdominally during pregnancy to a better position. If, however, the mother starts labour with the baby’s head badly positioned or with the buttocks instead of the head presenting (breech position), the labour will usually be longer and more di?cult and may require intervention using special obstetric forceps to assist in extracting the baby. If progress is poor and the fetus distressed, caesarean section may be necessary. HIV INFECTION Pregnant women who are HIV positive (see HIV; AIDS/HIV) should be taking antiviral drugs in the ?nal four to ?ve months of pregnancy, so as to reduce the risk of infecting the baby in utero and during birth by around 50 per cent. Additional antiviral treatment is given before delivery; the infection risk to the baby can be further reduced – by about 40 per cent – if delivery is by caesarean section. The mother may prefer to have the baby normally, in which case great care should be taken not to damage the baby’s skin during delivery. The infection risk to the baby is even further reduced if it is not breast fed. If all preventive precautions are taken, the overall risk of the infant becoming infected is cut to under 5 per cent.
Premature birth This is a birth that takes place before the end of the normal period of gestation, usually before 37 weeks. In practice, however, it is de?ned as a birth that takes place when the baby weighs less than 2·5 kilograms (5••• pounds). Between 5 and 10 per cent of babies are born prematurely, and in around 40 per cent of premature births the cause is unknown. Pre-eclampsia is the most common known cause; others include hypertension, chronic kidney disease, heart disease and diabetes mellitus. Multiple pregnancy is another cause. In the vast majority of cases the aim of management is to prolong the pregnancy and so improve the outlook for the unborn child. This consists essentially of rest in bed and sedation, but there are now several drugs, such as RITODRINE, that may be used to suppress the activity of the uterus and so help to delay premature labour. Prematurity was once a prime cause of infant mortality but modern medical care has greatly improved survival rates in developing countries.
Labour Also known by the traditional terms parturition, childbirth or delivery, this is the process by which the baby and subsequently the placenta are expelled from the mother’s body. The onset of labour is often preceded by a ‘show’ – the loss of the mucus and blood plug from the cervix, or neck of the womb; this passes down the vagina to the exterior. The time before the beginning of labour is called the ‘latent phase’ and characteristically lasts 24 hours or more in a ?rst pregnancy. Labour itself is de?ned by regular, painful contractions which cause dilation of the neck of the womb and descent of the fetal head. ‘Breaking of the waters’ is the loss of amniotic ?uid vaginally and can occur any time in the delivery process.
Labour itself is divided into three stages: the ?rst is from the onset of labour to full (10 cm) dilation of the neck of the womb. This stage varies in length, ideally taking no more than one hour per centimetre of dilation. Progress is monitored by regular vaginal examinations, usually every four hours. Fetal well-being is observed by intermittent or continuous monitoring of the fetal heart rate in relation to the timing and frequency of the contractions. The print-out is called a cardiotocograph. Abnormalities of the fetal heart rate may suggest fetal distress and may warrant intervention. In women having their ?rst baby (primigravidae), the common cause of a slow labour is uncoordinated contractions which can be overcome by giving either of the drugs PROSTAGLANDIN or OXYTOCIN, which provoke contractions of the uterine muscle, by an intravenous drip. Labours which progress slowly or not at all may be due to abnormal positioning of the fetus or too large a fetus, when prostaglandin or oxytocin is used much more cautiously.
The second stage of labour is from full cervical dilation to the delivery of the baby. At this stage the mother often experiences an irresistible urge to push the baby out, and a combination of strong coordinated uterine contractions and maternal e?ort gradually moves the baby down the birth canal. This stage usually lasts under an hour but can take longer. Delay, exhaustion of the mother or distress of the fetus may necessitate intervention by the midwife or doctor. This may mean enlarging the vaginal opening with an EPISIOTOMY (cutting of the perineal outlet – see below) or assisting the delivery with specially designed obstetric forceps or a vacuum extractor (ventouse). If the cervix is not completely dilated or open and the head not descended, then an emergency caesarean section may need to be done to deliver the baby. This procedure involves delivering the baby and placenta through an incision in the mother’s abdomen. It is sometimes necessary to deliver by planned or elective caesarean section: for example, if the placenta is low in the uterus – called placenta praevia – making a vaginal delivery dangerous.
The third stage occurs when the placenta (or afterbirth) is delivered, which is usually about 10–20 minutes after the baby. An injection of ergometrine and oxytocin is often given to women to prevent bleeding.
Pain relief in labour varies according to the mother’s needs. For uncomplicated labours, massage, reassurance by a birth attendant, and a warm bath and mobilisation may be enough for some women. However, some labours are painful, particularly if the woman is tired or anxious or is having her ?rst baby. In these cases other forms of analgesia are available, ranging from inhalation of NITROUS OXIDE GAS, injection of PETHIDINE HYDROCHLORIDE or similar narcotic, and regional local anaesthetic (see ANAESTHESIA).
Once a woman has delivered, care continues to ensure her and the baby’s safety. The midwives are involved in checking that the uterus returns to its normal size and that there is no infection or heavy bleeding, as well as caring for stitches if needed. The normal blood loss after birth is called lochia and generally is light, lasting up to six weeks. Midwives o?er support with breast feeding and care of the infant and will visit the parents at home routinely for up to two weeks.
Some complications of labour All operative deliveries in the UK are now done in hospitals, and are performed if a spontaneous birth is expected to pose a bigger risk to the mother or her child than a specialist-assisted one. Operative deliveries include caesarean section, forceps-assisted deliveries and those in which vacuum extraction (ventouse) is used. CAESAREAN SECTION Absolute indications for this procedure, which is used to deliver over 15 per cent of babies in Britain, are cephalopelvic disproportion and extensive placenta praevia, both discussed above. Otherwise the decision to undertake caesarean section depends on the clinical judgement of the specialist and the views of the mother. The rise in the proportion of this type of intervention (from 5 per cent in the 1930s to its present level of over 23 per cent
P
of the 600,000 or so annual deliveries in England) has been put down to defensive medicine
– namely, the doctor’s fear of litigation (initiated often because the parents believe that the baby’s health has suffered because the mother had an avoidably di?cult ‘natural’ labour). In Britain, over 60 per cent of women who have had a caesarean section try a vaginal delivery in a succeeding pregnancy, with about two-thirds of these being successful. Indications for the operation include:
absolute and relative cephalopelvic disproportion.
placenta previa.
fetal distress.
prolapsed umbilical cord – this endangers the viability of the fetus because the vital supply of oxygen and nutrients is interrupted.
malpresentation of the fetus such as breech or transverse lie in the womb.
unsatisfactory previous pregnancies or deliveries.
a request from the mother.
Caesarean sections are usually performed using regional block anaesthesia induced by a spinal or epidural injection. This results in loss of feeling in the lower part of the body; the mother is conscious and the baby not exposed to potential risks from volatile anaesthetic gases inhaled by the mother during general anaesthesia. Post-operative complications are higher with general anaesthesia, but maternal anxiety and the likelihood that the operation might be complicated and di?cult are indications for using it. A general anaesthetic may also be required for an acute obstetric emergency. At operation the mother’s lower abdomen is opened and then her uterus opened slowly with a transverse incision and the baby carefully extracted. A transverse incision is used in preference to the traditional vertical one as it enables the woman to have a vaginal delivery in any future pregnancy with a much smaller risk of uterine rupture. Women are usually allowed to get up within 24 hours and are discharged after four or ?ve days. FORCEPS AND VENTOUSE DELIVERIES Obstetric forceps are made in several forms, but all are basically a pair of curved blades shaped so that they can obtain a purchase on the baby’s head, thus enabling the operator to apply traction and (usually) speed up delivery. (Sometimes they are used to slow down progress of the head.) A ventouse or vacuum extractor comprises an egg-cup-shaped metal or plastic head, ranging from 40 to 60 mm in diameter with a hollow tube attached through which air is extracted by a foot-operated vacuum pump. The instrument is placed on the descending head, creating a negative pressure on the skin of the scalp and enabling the operator to pull the head down. In mainland Europe, vacuum extraction is generally preferred to forceps for assisting natural deliveries, being used in around 5 per cent of all deliveries. Forceps have a greater risk of causing damage to the baby’s scalp and brain than vacuum extraction, although properly used, both types should not cause any serious damage to the baby.
Episiotomy Normal and assisted deliveries put the tissues of the genital tract under strain. The PERINEUM is less elastic than the vagina and, if it seems to be splitting as the baby’s head
moves down the birth canal, it may be necessary to cut the perineal tissue – a procedure called an episiotomy – to limit damage. This is a simple operation done under local anaesthetic. It should be done only if there is a speci?c indication; these include:
to hasten the second stage of labour if the fetus is distressed.
to facilitate the use of forceps or vacuum extractor.
to enlarge a perineum that is restricted because of unyielding tissue, perhaps because of a scar from a previous labour. Midwives as well as obstetricians are trained
to undertake and repair (with sutures) episiotomies.
(For organisations which o?er advice and information on various aspects of childbirth, including eclampsia, breast feeding and multiple births, see APPENDIX 2: ADDRESSES: SOURCES OF INFORMATION, ADVICE, SUPPORT AND SELF-HELP.)... pregnancy and labour
ULTRASOUND scanning is probably the most widely used diagnostic tool in obstetric practice. It can detect structural abnormalities such as SPINA BIFIDA and CLEFT PALATE and even cardiac and renal problems. A series of scans can assess whether the baby is growing at a normal rate; ultrasound may also be used to assist with other diagnostic tests (e.g. AMNIOCENTESIS – see below).
Tests on the mother’s blood can also diagnose fetal abnormalities. Alphafetoprotein (AFP) is produced by babies and ‘leaks’ into the AMNIOTIC FLUID and is absorbed by the mother. In spina bi?da and other neural-tube defects there is increased leakage of AFP, and a blood test at 16 weeks’ gestation can detect a raised level which suggests the presence of these abnormalities.
The triple test, also performed at 16 weeks, measures AFP and two hormones – HUMAN CHORIONIC GONADOTROPHIN and unconjugated OESTRADIOL – and is used in diagnosing DOWN’S (DOWN) SYNDROME.
Amniocentesis involves inserting a needle through the mother’s abdominal wall into the uterus to remove a sample of amniotic ?uid at 16–18 weeks. Examination of the ?uid and the cells it contains is used in the diagnosis of Down’s syndrome and other inherited disorders. The test carries a small risk of miscarriage.
Chorionic villus sampling may be used to diagnose various inherited conditions. A small amount of tissue from the developing PLACENTA is removed for analysis: this test has the advantages of having a lower incidence of miscarriage than amniocentesis and is carried out at an earlier stage (9–13 weeks).
Analysis of a blood sample removed from the umbilical cord (cordocentesis) may diagnose infections in the uterus, blood disorders or inherited conditions.
Direct observation of the fetus via a viewing instrument called a fetoscope is also used diagnostically and will detect structural abnormalities.
Most tests have a recognised incidence of false positive and negative results and are therefore usually cross-checked with another test. Counselling of the parents about prenatal tests is important. This allows them to make an informed choice which may not necessarily involve terminating the pregnancy if an abnormality is found. (See PREGNANCY AND LABOUR.)... prenatal screening or diagnosis
Structure Each tooth is composed of enamel, dentine, cement, pulp and periodontal membrane. ENAMEL is the almost translucent material which covers the crown of a tooth. It is the most highly calci?ed material in the body, 96–97 per cent being composed of calci?ed salts. It is arranged from millions of long, six-sided prisms set on end on the dentine (see below), and is thickest over the biting surface of the tooth. With increasing age or the ingestion of abrasive foods the teeth may be worn away on the surface, so that the dentine becomes visible. The outer sides of some teeth may be worn away by bad tooth-brushing technique. DENTINE is a dense yellowish-white material from which the bulk and the basic shape of a tooth are formed. It is like ivory and is harder than bone but softer than enamel. The crown of the tooth is covered by the hard protective enamel and the root is covered by a bone-like substance called cement. Decay can erode dentine faster than enamel (see TEETH, DISORDERS OF – Caries of the teeth). CEMENT or cementum is a thin bone-like material which covers the roots of teeth and helps hold them in the bone. Fibres of the periodontal membrane (see below) are embedded in the cement and the bone. When the gums recede, part of the cement may be exposed and the cells die. Once this has happened, the periodontal membrane can no longer be attached to the tooth and, if su?cient cement is destroyed, the tooth-support will be so weakened that the tooth will become loose. PULP This is the inner core of the tooth and is
composed of a highly vascular, delicate ?brous tissue with many ?ne nerve-?bres. The pulp is very sensitive to temperature variation and to touch. If the pulp becomes exposed it will become infected and usually cannot overcome this. Root-canal treatment or extraction of the tooth may be necessary. PERIODONTAL MEMBRANE This is a layer of ?brous tissue arranged in groups of ?bres which surround and support the root of a tooth in a bone socket. The ?bres are interspersed with blood vessels and nerves. Loss of the membrane leads to loss of the tooth. The membrane can release and re-attach the ?bres to allow the tooth to move when it erupts, or (to correct dental deformities) is being moved by orthodontic springs.
Arrangement and form Teeth are present in most mammals and nearly all have two sets: a temporary or milk set, followed by a permanent or adult set. In some animals, like the toothed whale, all the teeth are similar; but in humans there are four di?erent shapes: incisors, canines (eye-teeth), premolars (bicuspids), and molars. The incisors are chisel-shaped and the canine is pointed. Premolars have two cusps on the crown (one medial to the other) and molars have at least four cusps. They are arranged together in an arch in each jaw and the
cusps of opposing teeth interdigitate. Some herbivores have no upper anterior teeth but use a pad of gum instead. As each arch is symmetrical, the teeth in an upper and lower quadrant can be used to identify the animal. In humans, the quadrants are the same: in other words, in the child there are two incisors, one canine and two molars (total teeth 20); in the adult there are two incisors, one canine, two premolars and three molars (total 32). This mixture of tooth-form suggests that humans are omnivorous. Anatomically the crown of the tooth has mesial and distal surfaces which touch the tooth next to it. The mesial surface is the one nearer to the centre line and the distal is the further away. The biting surface is called the incisal edge for the anterior teeth and the occlusal surface for the posteriors.
Development The ?rst stage in the formation of the teeth is the appearance of a down-growth of EPITHELIUM into the underlying mesoderm. This is the dental lamina, and from it ten smaller swellings in each jaw appear. These become bell-shaped and enclose a part of the mesoderm, the cells of which become specialised and are called the dental papillae. The epithelial cells produce enamel and the dental papilla forms the dentine, cement and pulp. At a ?xed time the teeth start to erupt and a root is formed. Before the deciduous teeth erupt, the permanent teeth form, medial to them. In due course the deciduous roots resorb and the permanent teeth are then able to push the crowns out and erupt themselves. If this process is disturbed, the permanent teeth may be displaced and appear in an abnormal position or be impacted.
Eruption of teeth is in a de?nite order and at a ?xed time, although there may be a few months’ leeway in either direction which is of no signi?cance. Excessive delay is found in some congenital disorders such as CRETINISM. It may also be associated with local abnormalities of the jaws such as cysts, malformed teeth and supernumerary teeth.
The usual order of eruption of deciduous teeth is:
Middle incisors 6–8 months Lateral incisors 8–10 months First molars 12–16 months Canines (eye-teeth) 16–20 months Second molars 20–30 months
The usual order of eruption of permanent teeth is:
First molars 6–7 years Middle incisors 6–8 years Lateral incisors 7–9 years Canines 9–12 years First and second premolars 10–12 years Second molars 11–13 years Third molars (wisdom teeth) 17–21 years
The permanent teeth of the upper (top) and lower (bottom) jaws.
Teeth, Disorders of
Teething, or the process of eruption of the teeth in infants, may be accompanied by irritability, salivation and loss of sleep. The child will tend to rub or touch the painful area. Relief may be obtained in the child by allowing it to chew on a hard object such as a toy or rusk. Mild ANALGESICS may be given if the child is restless and wakens in the night. A serious pitfall is to assume that an infant’s symptoms of ill-health are due to teething, as the cause may be more serious. Fever and ?ts (see SEIZURE) are not due to teething.
Toothache is the pain felt when there is in?ammation of the pulp or periodontal membrane of a tooth (see TEETH – Structure). It can vary in intensity and may be recurring. The commonest cause is caries (see below) when the cavity is close to the pulp. Once the pulp has become infected, this is likely to spread from the apex of the tooth into the bone to form an abscess (gumboil – see below). A lesser but more long-lasting pain is felt when the dentine is unprotected. This can occur when the enamel is lost due to decay or trauma or because the gums have receded. This pain is often associated with temperature-change or sweet foods. Expert dental advice should be sought early, before the decay is extensive. If a large cavity is accessible, temporary relief may be obtained by inserting a small piece of cotton wool soaked, for example, in oil of cloves.
Alveolar abscess, dental abscess or gumboil This is an ABSCESS caused by an infected tooth. It may be present as a large swelling or cause trismus (inability to open the mouth). Treatment is drainage of the PUS, extraction of the tooth and/or ANTIBIOTICS.
Caries of the teeth or dental decay is very common in the more a?uent countries and is most common in children and young adults. Increasing awareness of the causes has resulted in a considerable improvement in dental health, particularly in recent years; this has coincided with a rise in general health. Now more than half of ?ve-year-old children are caries-free and of the others, 10 per cent have half of the remaining carious cavities. Since the start of the National Health Service, the emphasis has been on preventive dentistry, and now edentulous patients are mainly found among the elderly who had their teeth removed before 1948.
The cause of caries is probably acid produced by oral bacteria from dietary carbohydrates, particularly re?ned sugar, and this dissolves part of the enamel; the dentine is eroded more quickly as it is softer (see TEETH – Structure). The exposed smooth surfaces are usually protected as they are easily cleaned during normal eating and by brushing. Irregular and overcrowded teeth are more at risk from decay as they are di?cult to clean. Primitive people who chew coarse foods rarely get caries. Fluoride in the drinking water at about one part per million is associated with a reduction in the caries rate.
Prolonged severe disease in infancy is associated with poor calci?cation of the teeth, making them more vulnerable to decay. As the teeth are formed and partly calci?ed by the time of birth, the diet and health of the mother are also important to the teeth of the child. Pregnant mothers and children should have a good balanced diet with su?cient calcium and vitamin
D. A ?brous diet will also aid cleansing of the teeth and stimulate the circulation in the teeth and jaws. The caries rate can be reduced by regular brushing with a ?uoride toothpaste two or three times per day and certainly before going to sleep. The provision of sweet or sugary juices in an infant’s bottle should be avoided.
Irregularity of the permanent teeth may be due to an abnormality in the growth of the jaws or to the early or late loss of the deciduous set (see TEETH – Development). Most frequently it is due to an imbalance in the size of the teeth and the length of the jaws. Some improvement may take place with age, but many will require the help of an orthodontist (specialist dentist) who can correct many malocclusions by removing a few teeth to allow the others to be moved into a good position by means of springs and elastics on various appliances which are worn in the mouth.
Loosening of the teeth may be due to an accident or in?ammation of the GUM. Teeth loosened by trauma may be replaced and splinted in the socket, even if knocked right out. If the loosening is due to periodontal disease, the prognosis is less favourable.
Discoloration of the teeth may be intrinsic or extrinsic: in other words, the stain may be in the calci?ed structure or stuck on to it. Intrinsic staining may be due to JAUNDICE or the antibiotic tetracycline. Extrinsic stain may be due to tea, co?ee, tobacco, pan (a mixture of chuna and betel nuts wrapped in a leaf), iron-containing medicines or excess ?uoride.
Gingivitis or in?ammation of the gum may occur as an acute or chronic condition. In the acute form it is often part of a general infection of the mouth, and principally occurs in children or young adults – resolving after 10–14 days. The chronic form occurs later in life and tends to be progressive. Various microorganisms may be found on the lesions, including anaerobes. Antiseptic mouthwashes may help, and once the painful stage is past, the gums should be thoroughly cleaned and any calculus removed. In severe conditions an antibiotic may be required.
Periodontal disease is the spread of gingivitis (see above) to involve the periodontal membrane of the tooth; in its ?orid form it used to be called pyorrhoea. In this, the membrane becomes damaged by the in?ammatory process and a space or pocket is formed into which a probe can be easily passed. As the pocket becomes more extensive, the tooth loosens. The loss of the periodontal membrane also leads to the loss of supporting bone. Chronic in?ammation soon occurs and is di?cult to eradicate. Pain is not a feature of the disease but there is often an unpleasant odour (halitosis). The gums bleed easily and there may be DYSPEPSIA. Treatment is largely aimed at stabilising the condition rather than curing it.
Dental abscess is an infection that arises in or around a tooth and spreads to involve the bone. It may occur many years after a blow has killed the pulp of the tooth, or more quickly after caries has reached the pulp. At ?rst the pain may be mild and intermittent but eventually it will become severe and a swelling will develop in the gum over the apex of the tooth. A radiograph of the tooth will show a round clear area at the apex of the tooth. Treatment may be by painting the gum with a mild counter-irritant such as a tincture of aconite and iodine in the early stages, but later root-canal therapy or apicectomy may be required. If a swelling is present, it may need to be drained or the o?ending teeth extracted and antibiotics given.
Injuries to teeth are common. The more minor injuries include crazing and the loss of small chips of enamel, and the major ones include a broken root and avulsion of the entire tooth. A specialist dental opinion should be sought as soon as possible. A tooth that has been knocked out can be re-implanted if it is clean and replaced within a few hours. It will then require splinting in place for 4–6 weeks.
Prevention of dental disease As with other disorders, prevention is better than cure. Children should be taught at an early age to keep their teeth and gums clean and to avoid re?ned sugars between meals. It is better to ?nish a meal with a drink of water rather than a sweetened drink. Fluoride in some of its forms is useful in the reduction of dental caries; in some parts of the UK natural water contains ?uoride, and in some areas where ?uoride content is low, arti?cial ?uoridation of the water supply is carried out. Overcrowding of the teeth, obvious maldevelopment of the jaw and persistent thumbsucking into the teens are all indications for seeking the advice of an orthodontist. Generally, adults have less trouble with decay but more with periodontal disease and, as its onset is insidious, regular dental inspections are desirable.... teeth
In Britain, for instance, preventive medicine is usually taken to encompass a range of activities whose purpose is:
to reduce the chance of a person contracting a disease or becoming disabled.
to identify either an increased susceptibility to develop a disease, or an early manifestation of a disease at a stage which will still allow treatment to be e?ective. The American College of Preventive Medi
cine (1983) de?ned it as ‘a specialised ?eld of medical practice composed of distinct disciplines which utilise skills focusing on the health of de?ned populations in order to promote and maintain health and well-being and to prevent disease, disability and premature death’.
However de?ned, the spectrum of activities encompassed by preventive medicine is wide and includes actions, such as counselling about lifestyle, where there may not be a clear cut-o? between a preventive and a curative act. For example, advice about smoking and exercise to a recent victim of a myocardial infarction (see under HEART, DISEASES OF) is both essential to treatment and preventive against a future attack. Action aimed at a whole population – such as the addition of ?uoride to drinking-water to protect against dental caries (see under TEETH, DISORDERS OF) – is part of a population-based public-health strategy but would also be widely regarded as preventive medicine.
A common and widely accepted classi?cation of preventive medicine is as follows:
Primary prevention which aims at the complete avoidance of a disease (for example, by immunising a child against an infectious disease – see IMMUNISATION).
Secondary prevention which aims at detecting and curing a disease at an early stage before it has caused any symptoms. This requires ‘screening’ procedures to detect either the early pre-symptomatic condition, or a risk factor which may lead to it. (An example of the former is cervical cytology, where a sample of cells is scraped from the cervix of the UTERUS and examined microscopically for abnormality.
An example of the latter is CHOLESTEROL measurement as part of assessing an individual’s risk of developing ischaemic heart disease (see under HEART, DISEASES OF). If it is signi?cantly raised, dietary or drug treatment can be advised.)
Tertiary prevention aims at minimising the consequences for a patient who already has the disease (e.g. advising people to take more exercise and stop smoking after a heart attack).
Many prefer to limit the term ‘preventive medicine’ to primary and secondary prevention, emphasising the focus on risk-reducing interventions targeted at ‘well’ individuals. Others prefer the wider emphasis because of the importance of a preventive approach in reducing further disability by recognising and treating symptoms early. This can be particularly important in older people, where, for example, vigorous treatment of an orthopaedic problem can enable the patient to maintain physical mobility with all the bene?ts to health that brings. Whether primary, secondary or tertiary prevention, some form of screening question or test is normally necessary to identify a problem.
The range and extent of opportunities for prevention are expanding as research identi?es the causes of diseases and more e?ective treatment becomes feasible. Inevitably there is economic and political debate about the cost-e?ectiveness of prevention versus cure, as well as about the ETHICS. The situation varies in relation to the natural history of the speci?c disease. Some conditions can easily be prevented but once contracted cannot be cured
(e.g. RABIES); others are easily cured but are not yet preventable.
Screening Screening involves carrying out tests either to identify a treatable disease at a very early stage, before it has caused symptoms or damage; or to identify a risk factor which can lead to a disease. The tests might be by simple questioning (e.g. ‘Do you smoke cigarettes?’ – this predicts a considerable increase in the risk of chronic bronchitis, heart disease, bronchial cancer and many other diseases, and enables targeted advice and help to stop smoking to be given). Other screening tests involve carrying out complex special investigations such as blood tests or the microscopic investigations of cells – for example, for precancerous changes.
Many conditions can be identi?ed at an early stage before they cause symptoms or signs of disease and in time for e?ective treatment to be carried out. Inevitably, some of the screening tests proposed can be expensive (particularly if used in large populations), painful or inaccurate and may not improve the results of treatment. Screening can also provoke considerable anxiety in those waiting for tests or results. Therefore, over the years considerable research has been carried out into the appropriateness and ethics of screening, and the World Health Organisation in 1968 identi?ed a set of rules for evaluating screening tests:
The condition sought should be an important health problem, for which there should be an accepted treatment for patients with recognised disease.
Facilities for diagnosis and treatment should be available if a case is found.
The screening test or examination must be suitable and valid. A false positive test will cause massive anxiety and also considerable expense in proving that there is no disease. Similarly, false negatives can lead people to be reassured and to ignore serious symptoms until too late. If large numbers of positive tests or false positives occur during a screening programme, health services can be swamped.
The test, and any treatment as a possible result, should be acceptable. For example, there is little point in screening for a fetal abnormality which, if found, would lead to a recommendation for termination if the mother will refuse it on religious or moral grounds.
Screening tests also need to be considered from an economic perspective and the cost of case-?nding (including diagnosis and treatment of patients diagnosed) balanced in relation to possible expenditure on medical care as a whole.
Finally the programme should re?ect the natural history of the disease, and case-?nding should normally be a continuing process and not a ‘once for all’ project. If these rules are followed, considerable
bene?ts can result from well-planned and well-managed screening programmes, and they form an important part of any health-care system. The extent to which manipulation of genetic material will be added to more traditional approaches such as counselling, immunisation and drug treatment cannot yet be predicted but, as time goes by, it is often likely to be ethical and social controls which limit developments rather than technical and scienti?c limits.... preventive medicine
Sometimes during cell division chromosomes may be lost or duplicated, or abnormalities in the structure of individual chromosomes may occur. The surprising fact is the infrequency of such errors. About one in 200 live-born babies has an abnormality of development caused by a chromosome, and two-thirds of these involve the sex chromosomes. There is little doubt that the frequency of these abnormalities in the early embryo is much higher, but because of the serious nature of the defect, early spontaneous ABORTION occurs.
Chromosome studies on such early abortions show that half have chromosome abnormalities, with errors of autosomes being three times as common as sex chromosome anomalies. Two of the most common abnormalities in such fetuses are triploidy with 69 chromosomes and trisomy of chromosome 16. These two anomalies almost always cause spontaneous abortion. Abnormalities of chromosome structure may arise because of:
Deletion Where a segment of a chromosome is lost.
Inversion Where a segment of a chromosome becomes detached and re-attached the other way around. GENES will then appear in the wrong order and thus will not correspond with their opposite numbers on homologous chromosomes.
Duplication Where a segment of a chromosome is included twice over. One chromosome will have too little nuclear material and one too much. The individual inheriting too little may be non-viable and the one with too much may be abnormal.
Translocation Where chromosomes of different pairs exchange segments.
Errors in division of centromere Sometimes the centromere divides transversely instead of longitudinally. If the centromere is not central, one of the daughter chromosomes will arise from the two short arms of the parent chromosome and the other from the two long arms. These abnormal daughter chromosomes are called isochromosomes.
These changes have important bearings on heredity, as the e?ect of a gene depends not only upon its nature but also upon its position on the chromosome with reference to other genes. Genes do not act in isolation but against the background of other genes. Each gene normally has its own position on the chromosome, and this corresponds precisely with the positon of its allele on the homologous chromosome of the pair. Each member of a pair of chromosomes will normally carry precisely the same number of genes in exactly the same order. Characteristic clinical syndromes, due to abnormalities of chromosome structure, are less constant than those due to loss or gain of a complete chromosome. This is because the degree of deletion, inversion and duplication is inconstant. However, translocation between chromosomes 15 and 21 of the parent is associated with a familial form of mongolism (see DOWN’S (DOWN) SYNDROME) in the o?spring, and deletion of part of an X chromosome may result in TURNER’S SYNDROME.
Non-disjunction Whilst alterations in the structure of chromosomes arise as a result of deletion or translocation, alterations in the number of chromosomes usually arise as a result of non-disjunction occurring during maturation of the parental gametes (germ cells). The two chromosomes of each pair (homologous chromosomes) may fail to come together at the beginning of meiosis and continue to lie free. If one chromosome then passes to each pole of the spindle, normal gametes may result; but if both chromosomes pass to one pole and neither to the other, two kinds of abnormal gametes will be produced. One kind of gamete will contain both chromosomes of the pair, and the other gamete will contain neither. Whilst this results in serious disease when the autosomes are involved, the loss or gain of sex chromosomes seems to be well tolerated. The loss of an autosome is incompatible with life and the malformation produced by a gain of an autosome is proportional to the size of the extra chromosome carried.
Only a few instances of a gain of an autosome are known. An additional chromosome 21 (one of the smallest autosomes) results in mongolism, and trisomy of chromosome 13 and 18 is associated with severe mental, skeletal and congenital cardiac defects. Diseases resulting from a gain of a sex chromosome are not as severe. A normal ovum contains 22 autosomes and an X sex chromosome. A normal sperm contains 22 autosomes and either an X or a Y sex chromosome. Thus, as a result of nondisjunction of the X chromosome at the ?rst meiotic division during the formation of female gametes, the ovum may contain two X chromosomes or none at all, whilst in the male the sperm may contain both X and Y chromosomes (XY) or none at all. (See also CHROMOSOMES; GENES.)... sex chromosomes
Treatment involves surgery.
A colostomy may be needed initially before definitive surgery to construct an anus.... anus, imperforate
Arcus senilis is caused by degeneration of fatty material in the cornea and develops gradually during adult life.
The ring does not affect eyesight.
Development of the condition in early adult life may be associated with an abnormality of fats in the blood (see hyperlipidaemia).... arcus senilis
in which the atria beat regularly and very rapidly. Symptoms and treatment are the same as for atrial fibrillation.... atrial flutter
Blood accumulates in the liver, which swells.
Liver failure and portal hypertension result.
Treatment is aimed at removing the cause of the obstruction: this may be a blood clot, pressure on the veins from a liver tumour, or a congenital abnormality of the veins.
In most cases, treatment has only a limited effect and, unless a liver transplant can be done, the disease is fatal within 2 years.... budd–chiari syndrome
Symptoms may occur if the rib begins to press on the lower brachial plexus (the group of nerves passing from the spinal cord into the arm), causing pain, numbness, and pinsand-needles in the forearm and hand.
Exercises to strengthen the shoulder muscles and improve posture may bring relief.
Severe or persistent symptoms may require surgery to remove the rib.... cervical rib
The thymus gland is a vital part of the immunological system. Stem cells (see STEM CELL) from the BONE MARROW come to the thymus where they develop into immunologically competent cells. There are two distinct populations of lymphocytes. One is dependent on the presence of the thymus (Tlymphocytes); the other is independent of the thymus (B-lymphocytes). Both are concerned with immune responses (see IMMUNITY). The T-lymphocyte is a cell which in the absence of antigenic stimulation (see ANTIGEN) circulates through the blood, lymph nodes and back into the circulation again over a period of more than ten years. It performs a policing role, awaiting recognition of foreign material which it is able to identify as such. It reacts by multiplication and transformation and these are the ingredients of the immune response. B-lymphocytes are produced in the bone marrow and are concerned with the production of the circulating humoral ANTIBODIES.
The most common clinical disorder associated with abnormality of the thymus is MYASTHENIA GRAVIS. Ten per cent of patients with myasthenia gravis will have a tumour of the thymus, whilst the remainder will have in?ammatory changes in the thymus called thymitis.... thymus gland
Patients with Turner’s syndrome may require therapeutic help throughout their life. In early childhood this may revolve around surgical correction of cardiovascular disease and treatment to improve growth. Usually, PUBERTY will need to be induced with oestrogen therapy (see OESTROGENS). In adult life, problems of oestrogen therapy, prevention of osteoporosis (see under BONE, DISORDERS OF), assessment and treatment of HYPERTENSION and assisted fertility predominate. For the address of the UK Turner Syndrome Society, see Appendix 2.... turner’s syndrome
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
The child may resume normal growth if an underlying chemical abnormality can be corrected. Alternatively, a kidney transplant may be possible.... fanconi’s syndrome
Healthy people are inoculated with vaccine as a protection against a particular disease; this produces ANTIBODIES which will confer immunity against a subsequent attack of the disease. (See IMMUNISATION for programme of immunisation during childhood.)
Vaccines may be divided into two classes: stock vaccines, prepared from micro-organisms known to cause a particular disease and kept in readiness for use against that disease; and autogenous vaccines, prepared from microorganisms which are already in the patient’s body and to which the disease is due. Vaccines intended to protect against the onset of disease are of the former variety.
Autogenous vaccines are prepared by cultivating bacteria found in SPUTUM, URINE and FAECES, and in areas of in?ammation such as BOILS (FURUNCULOSIS). This type of vaccine was introduced by Wright about 1903.
Anthrax vaccine was introduced in 1882 for the protection of sheep and cattle against this disease. A safe and e?ective vaccine for use in human beings has now been evolved. (See ANTHRAX.)
BCG vaccine is used to provide protection against TUBERCULOSIS. (See also separate entry on BCG VACCINE.)
Cholera vaccine was introduced in India about 1894. Two injections are given at an interval of at least a week; this gives a varying degree of immunity for six months. (See CHOLERA.)
Diphtheria vaccine is available in several forms. It is usually given along with tetanus and pertussis vaccine (see below) in what is known as TRIPLE VACCINE. This is given in three doses: the ?rst at the age of two months; the second at three months; and the third at four months, with a booster dose at the age of ?ve years. (See DIPHTHERIA.)
Hay fever vaccine is a vaccine prepared from the pollen of various grasses. It is used in gradually increasing doses for prevention of HAY FEVER in those susceptible to this condition.
In?uenza vaccine A vaccine is now available for protection against INFLUENZA due to the in?uenza viruses A and B. Its use in Britain is customarily based on advice from the health departments according to the type of in?uenza expected in a particular year.
Measles, mumps and rubella (MMR) vaccines are given in combination early in the second year of life. A booster dose may prove necessary, as there is some interference between this vaccine and the most recent form of pertussis vaccine (see below) o?ered to children. Uptake has declined a little because of media reports suggesting a link with AUTISM – for which no reliable medical evidence (and much to the contrary) has been found by investigating epidemiologists. (See also separate entry for each disease, and for MMR VACCINE.)
Pertussis (whooping-cough) vaccine is prepared from Bordetella pertussis, and is usually given along with diphtheria and tetanus in what is known as triple vaccine. (See also WHOOPING-COUGH.)
Plague vaccine was introduced by Ha?kine, and appears to give useful protection, but the duration of protection is relatively short: from two to 20 months. Two injections are given at an interval of four weeks. A reinforcing dose should be given annually to anyone exposed to PLAGUE.
Poliomyelitis vaccine gives a high degree of protection against the disease. This is given in the form of attenuated Sabin vaccine which is taken by mouth – a few drops on a lump of sugar. Reinforcing doses of polio vaccine are recommended on school entry, on leaving school, and on travel abroad to countries where POLIOMYELITIS is ENDEMIC.
Rabies vaccine was introduced by Pasteur in 1885 for administration, during the long incubation period, to people bitten by a mad dog, in order to prevent the disease from developing. (See RABIES.)
Rubella vaccine, usually given with mumps and measles vaccine in one dose – called MMR VACCINE, see also above – now provides protection against RUBELLA (German measles). It also provides immunity for adolescent girls who have not had the disease in childhood and so ensures that they will not acquire the disease during any subsequent pregnancy – thus reducing the number of congenitally abnormal children whose abnormality is the result of their being infected with rubella via their mothers before they were born.
Smallpox vaccine was the ?rst introduced. As a result of the World Health Organisation’s successful smallpox eradication campaign – it declared the disease eradicated in 1980 – there is now no medical justi?cation for smallpox vaccination. Recently, however, there has been increased interest in the subject because of the potential threat from bioterrorism. (See also VACCINATION.)
Tetanus vaccine is given in two forms: (1) In the so-called triple vaccine, combined with diphtheria and pertussis (whooping-cough) vaccine for the routine immunisation of children (see above). (2) By itself to adults who have not been immunised in childhood and who are particularly exposed to the risk of TETANUS, such as soldiers and agricultural workers.
Typhoid vaccine was introduced by Wright and Semple for the protection of troops in the South African War and in India. TAB vaccine, containing Salmonella typhi (the causative organism of typhoid fever – see ENTERIC FEVER) and Salmonella paratyphi A and B (the organisms of paratyphoid fever – see ENTERIC FEVER) has now been replaced by typhoid monovalent vaccine, containing only S. typhi. The change has been made because the monovalent vaccine is less likely to produce painful arms and general malaise, and there is no evidence that the TAB vaccine gave any protection against paratyphoid fever. Two doses are given at an interval of 4–6 weeks, and give protection for 1–3 years.... vaccine
It is given, as tablets or injection, to people resistant to or intolerant of other treatment; and treatment is always initiated in hospital.
Side effects may include dizziness, visual disturbances, and worsening, or a new type of, arrhythmia.
Rarely, nausea, vomiting, urticaria, vertigo, and jaundice occur.... flecainide
This may result from an abnormality of the sex chromosomes or a hormonal disorder (see hermaphroditism; sex determination; adrenal hyperplasia, congenital).... genitalia, ambiguous
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
Symptoms: breathlessness, vomiting, spasm, convulsions. The calcium balance is governed by hormones from the parathyroid gland. Absorption of the mineral depends upon dietary calcium and Vitamin D. (See: CALCIUM, VITAMIN D)
Abnormality may be shown by decrease of serum calcium levels in the blood, or by increase in size and density of bones and other tissues.
Causes: tumour, hardened arteries, bone-wasting diseases, chronic kidney disease.
Alternatives. Horsetail tea. Comfrey root powder: 2-4g, 1 to 3 times daily. Comfrey: potential benefit outweighs possible risk.
Diet. Cod Liver oil. Fish oils generally. Fresh Carrot juice.
Supplementation. Vitamins A, C, D (up to 20,000 units daily). Calcium, Magnesium, Beta Carotene, Dolomite, Phosphorus.
See: CALCIUM DISORDERS. RICKETS: OSTEOPOROSIS: OSTEOMALACIA. ... hypocalcaemia
Diagnosis is difficult to the inexperienced practitioner. Referral to a dermatologist for skin biopsy. Homosexuals are at risk from semen ejaculated into a foreign environment. The blood abnormality extends to the lymph system for which Lymphatics such as Echinacea, Saw Palmetto and Poke root are indicated. See: AIDS.
Treatment by a general medical practitioner or hospital specialist. ... kaposi’s sarcoma
The joined kidneys usually function normally, but may be associated with other congenital kidney defects.... horseshoe kidney
The effects depend on which hormones are affected.
Possible causes are a pituitary tumour, an abnormality affecting the hypothalamus, or injury to the pituitary gland.
Hypopituitarism may also follow surgery or radiotherapy of the pituitary gland.
Treatment involves replacing the deficient hormones.... hypopituitarism
Kyphosis usually affects the spine at the top of the back, resulting in a hump or pronounced rounding of the back.
The condition may be caused by any of a variety of spine disorders.
In some cases, a congenital abnormality may be the cause.
Treatment, which is rarely successful, is of the underlying disorder.
When combined with a curvature of the spine to one side (scoliosis), the condition is known as kyphoscoliosis.... kyphosis
Other causes are an abnormality present from birth, surgery on the leg, or muscle weakness associated with poliomyelitis or another neurological disorder.... leg, shortening of
Exercise worsens symptoms by reduced muscle tissue oxygen. (Swedish study)
The function of the immune system is to arrest the action of viruses and bacteria, but when it ceases to act the body intelligence cannot tell the difference between a normal reaction and an alien one. It begins to attack its own weapons of defence – the antibodies.
Symptoms. Exercise-induced muscle fatigue and weakness after walking or other activity. Movements are slow. Headache, dizziness, chest pain, difficult breathing, sore throat, swollen glands, stomach unrest. Mental weariness. “Cannot fight back”. Wants to sleep all the time. Difficulty in finding the right words, to remember things, to concentrate on problems and has to force the brain to work. He or she looks basically healthy but is unhappy and may awake crying in response to the pressures of life.
Treatment. Lymphatics, hepatics, nervines, oral anti-fungals (anti-candida).
Alternatives. Clivers, Galangal, Gentian, Ginkgo, Ginseng, Goldenseal, Milk Thistle, Liquorice root, Garlic, Astragalus radix, Poke root, Shitake Mushroom, Wild Indigo, Wormwood.
To enhance immune response: Echinacea.
Of value: Ginseng (anti-depressant), Evening Primrose (GLA), Vitamin E (antioxidant).
Formula: Tea: equal parts Gotu Kola, Ginkgo, Caraway. One teaspoon to each cup boiling water; infuse 15 minutes; 1 cup thrice daily.
Formula. Echinacea 2; Astragalus 1; Ginseng 1. Dose: Liquid Extracts: 1 teaspoon. Tinctures: 2 teaspoons. Powders: 500mg (two 00 capsules or one-third teaspoon). Thrice daily.
Diet. Low salt and fat, high fibre. Wholegrains, sprouting seeds, fresh fruit and vegetables, fish oils. Avoid sugar, yeast and dairy products.
Supplements: daily. Beta carotene, Vitamin B12, Vitamin C, Magnesium asparate 1g, Potassium 1g, Zinc. Contra-indications: tranquillisers that decrease physical and mental activity.
Evening Primrose. Clinical trials (Efamol) prove to help treat symptoms, especially when in combination with fish oils.
Supportive: cranial osteopathy. Aromatherapy massage. Complete rest, with long sleep periods.
Information. MEA, Stanhope House, High Street, Stanford-le-Hope, Essex SS17 0HA, UK. Send SAE. ... myalgic encephalomyelitis (me)
Symptoms: weakened eye muscles producing drooping eyelids (ptosis). Double vision (diplopia). Weakness of neck muscles served by the cranial nerves. Thymus gland abnormality. Difficult swallowing, chewing, slurred speech, fatigue, ‘simply cannot hold her head up’.
Lid-lag test and Tensilon tests establish diagnosis.
Treatment should give support to the thymus gland.
Alternatives. To improve nerve transmission: but not cure. Ephedra tea BHP (1983). 1 teaspoon to each cup boiling water; infuse 15 minutes, thrice daily.
Formula. Oats 2; Ginseng 1; Sarsaparilla 1; pinch Cayenne or drops Tincture Capsicum. Dose: Liquid Extracts: 1 teaspoon. Tinctures: 2 teaspoons. Powders: 500mg (two 00 capsules or one-third teaspoon). Thrice daily.
Practitioner: Ephedrine.
Diet: Gluten-free. ... myasthenia gravis (mg)
Amblyopia will develop if there is a marked discrepancy between the images received by the brain from each eye while vision is developing during early childhood. The most common cause is squint. Failure to form normal retinal images may also result from congenital cataract, and severe, or unequal, focusing errors, such as when one eye is normal and there is an uncorrected large degree of astigmatism in the other. Toxic and nutritional amblyopia may result from damage to the retina and/or the optic nerve.
To prevent amblyopia due to squint, patching (covering up the good eye to force the deviating eye to function properly) is the usual treatment. Surgery to place the deviating eye in the correct position may be necessary. Glasses may be needed to correct severe focusing errors. Cataracts may be removed surgically. After the age of 8, amblyopia cannot usually be remedied.... amblyopia
Heart murmurs are regarded as an indication of possible abnormality in the blood flow. Apart from “innocent” murmurs, the most common cause of extra blood turbulence is a disorder of the heart valves. Murmurs can also be caused by some types of congenital heart disease (see heart disease, congenital) or by rarer conditions such as a myxoma in a heart chamber.... murmur
Amniocentesis is usually performed in the 14th–18th week of pregnancy. It slightly increases the risk of miscarriage or early rupture of the membranes and is therefore recommended only when the fetus is thought to be at increased risk of an abnormality. (See also antenatal care, chorionic villus sampling.)... amniocentesis
Ultrasound scanning is carried out to identify abnormalities in the fetus. Chorionic villus sampling or amniocentesis may be performed if the baby is thought to be at increased risk of a chromosomal abnormality or a genetic disorder. The woman is also advised on general aspects of pregnancy, such as diet, exercise, techniques to help her with childbirth.
(See also childbirth, natural.)... antenatal care
can be destroyed by infective endocarditis. Aortic incompetence is associated with ankylosing spondylitis, and Marfan’s syndrome. Atherosclerosis may damage the valve, causing a combination of aortic stenosis and incompetence. Aortic incompetence is also found in untreated syphilis, which is now rare.
Aortic incompetence may not cause symptoms and is sometimes found during a routine medical examination. The heart compensates for the backflow of blood into the left ventricle by working harder, which may eventually lead to heart failure; this causes breathing difficulty and oedema (fluid accumulation).
Chest X-ray, ECG, and echocardiography may be carried out to diagnose aortic incompetence. A cardiac catheter is sometimes used to demonstrate the degree of incompetence (see catheterization, cardiac). Heart failure resulting from aortic incompetence can be treated with diuretic drugs. Heart-valve surgery to replace the damaged valve may eventually be necessary.... aortic incompetence
The most common cause of aortic stenosis is deposition of calcium on the aortic valve, usually associated with atherosclerosis. Aortic stenosis may also be caused by a congenital abnormality.
Aortic stenosis may not cause symptoms. When symptoms do occur, they include fainting, lack of energy, chest pain on exertion due to angina, and breathing difficulty.
Chest X-ray, ECG, and echocardiography may be carried out to diagnose aortic stenosis.
A cardiac catheter can be used to demonstrate the degree of stenosis (see catheterization, cardiac).
Heart-valve surgery may be needed to widen or replace the damaged valve.... aortic stenosis
In sinus tachycardia, the rate is raised, the rhythm is regular, and the beat originates in the sinoatrial node (see pacemaker). Supraventricular tachycardia is faster and the rhythm is regular. It may be caused by an abnormal electrical pathway that allows an impulse to
circulate continuously in the heart and take over from the sinoatrial node. Rapid, irregular beats that originate in the ventricles are called ventricular tachycardia. In atrial flutter, the atria (see atrium) beat regularly and very rapidly, but not every impulse reaches the ventricles, which beat at a slower rate. Uncoordinated, fast beating of the atria is called atrial fibrillation and produces totally irregular ventricular beats. Ventricular fibrillation is a form of cardiac arrest in which the ventricles twitch very rapidly in a disorganized manner.
Sinus bradycardia is a slow, regular beat. In heart block, the conduction of electrical impulses through the heart muscle is partially or completely blocked, leading to a slow, irregular heartbeat. Periods of bradycardia may alternate with periods of tachycardia due to a fault in impulse generation (see sick sinus syndrome).
A common cause of arrhythmia is coronary artery disease, particularly after myocardial infarction. Some tachycardias are due to a congenital defect in the heart’s conducting system. Caffeine can cause tachycardia in some people. Amitriptyline and some other antidepressant drugs can cause serious arrhythmias if they are taken in high doses.
An arrhythmia may be felt as palpitations, but in some cases arrhythmias can cause fainting, dizziness, chest pain, and breathlessness, which may be the 1st symptoms.
Arrhythmias are diagnosed by an ECG. If they are intermittent, a continuous recording may need to be made using an ambulatory ECG.
Treatments for arrhythmias include antiarrhythmic drugs, which prevent or slow tachycardias.
With an arrhythmia that has developed suddenly, it may be possible to restore normal heart rhythm by using electric shock to the heart (see defibrillation).
Abnormal conduction pathways in the heart can be treated using radio frequency ablation during cardiac catheterization (see catheterization, cardiac).
In some cases, a pacemaker can be fitted to restore normal heartbeat by overriding the heart’s abnormal rhythm.... arrhythmia, cardiac
The condition is common in toddlers.... pigeon toes
Sudden onset of atrial fibrillation can cause palpitations, angina, or breathlessness. The heart’s inefficient pumping action reduces the output of blood into the circulation. Blood clots may form in the atria and may enter the bloodstream and lodge in an artery (see embolism).
Diagnosis of atrial fibrillation is confirmed by ECG.
Digoxin or beta-blocker drugs may be given to control the heartrate.
Atrial fibrillation of recent onset may be reversed by defibrillation.
In most cases, anticoagulant drugs are given to reduce the risk of embolism.... atrial fibrillation
Congenital azoospermia may be due to a chromosomal abnormality such as Klinefelter’s syndrome; failure of the testes to descend into the scrotum; absence of the vasa deferentia (ducts that carry sperm from the testes to the seminal vesicles); or cystic fibrosis.
In some males, azoospermia may be the result of hormonal disorders affecting the onset of puberty. Another cause is blockage of the vasa deferentia, which may follow a sexually transmitted infection, tuberculosis, or surgery on the groin. Azoospermia can also be the result of damage to the testes. This can follow radiotherapy, treatment with certain drugs, and prolonged exposure to heat, or the effects of occupational exposure to toxic chemicals.
If the cause is treatable, sperm production may restart. However, in some cases, the testes will have been permanently damaged.... azoospermia
Coagulation disorders are usually due a deficiency of or abnormality in the enzymes (coagulation factors) involved in blood clotting. Defects may be congenital or acquired later in life. The
main congenital coagulation defects are von Willebrand’s disease, haemophilia, and Christmas disease.
Acquired defects of coagulation factors may develop at any age due to severe liver disease, digestive system disorders that prevent the absorption of vitamin K (needed to make certain coagulation factors), or the use of anticoagulant drugs. Disseminated intravascular coagulation (DIC) is an acquired disorder that is both complex and serious. It may be the result of underlying infection or cancer. In this condition, platelets accumulate and clots form within small blood vessels; coagulation factors are used up faster than they can be replaced, and severe bleeding may result.
Coagulation disorders are treated by replacement of the missing factor, factors extracted from fresh blood, or fresh frozen plasma. Genetically engineered factors may be used. Anticoagulants are sometimes used to suppress excess clotting activity in.
Thrombocytopenia, which results from insufficient platelets in the blood, produces surface bleeding into the skin and gums and multiple small bruises. Platelet defects may be inherited, associated with the use of certain drugs (including aspirin), or a complication of certain bone marrow disorders such as myeloid leukaemia. Treatment consists of platelet transfusions. Rarely, abnormal bleeding is caused by a bloodvessel defect or scurvy. Elderly people and patients on long-term courses of corticosteroid drugs may suffer mild abnormal bruising due to loss of skin support to the smallest blood vessels.
Treatment is rarely required.... bleeding disorders
Donated blood is tested for a range of infectious agents such as hepatitis B and hepatitis C and antibodies to HIV. After being classified into blood groups, the blood is stored in a blood bank, either whole or separated into its different components (see blood products). Apheresis is a type of blood donation in which only a specific blood component, such as plasma, platelets, or white cells, is withdrawn from the donor. blood film A test that involves smearing a drop of blood on to a glass slide for examination under a microscope. The blood film is stained with dyes to make the blood cells show up clearly.
The test allows the shape and appearance of blood cells to be checked for any abnormality, such as the sickleshaped red blood cells characteristic of sickle cell anaemia.
The relative proportions of the different types of white blood cells can also be counted.
This examination, called a differential white cell count, may be helpful in diagnosing infection or leukaemia.
Blood films are also used in diagnosing infections, such as malaria, in which the parasites can be seen inside the red blood cells.
Blood films are usually carried out together with a full blood count.... blood donation
The term also describes a rare childhood condition in which congenital abnormality of the lower half of the tibia leads to spontaneous fracture.... pseudarthrosis
scrotum resembling labia. (See also hermaphroditism, sex determination.)... pseudohermaphroditism
Scoliosis usually starts in childhood or adolescence and becomes progressively more marked until growth stops. In many cases, another part of the spine curves to compensate, resulting in an S-shaped spine. The cause of juvenile scoliosis is unknown. Rarely, scoliosis is due to a congenital abnormality of the vertebrae.
In some cases, physiotherapy may be sufficient to control scoliosis.
Progressive or severe scoliosis may require immobilization of the spine in a brace, followed by surgery (spinal fusion) to straighten it.... scoliosis
Autosomal abnormalities cause physical and mental defects of varying severity. Some types of autosomal abnormality, known as trisomy, consist of an extra chromosome on 1 of the 22 pairs of autosomes. The most common trisomy is Down’s syndrome. Sometimes, part of a chromosome is missing, as in cri du chat syndrome. In translocation, a part of a chromosome is joined to another, causing no ill effects in the person but a risk of abnormality in his or her children.
Sex chromosome abnormalities include Turner’s syndrome, in which a girl is born with a single X chromosome in her
cells instead of 2, causing physical abnormalities, defective sexual development, and infertility. A boy with 1 or more extra X chromosomes has Klinefelter’s syndrome, which causes defective sexual development and infertility. The presence of an extra X chromosome in women or an extra Y chromosome in men normally has no physical effect but increases the risk of mild mental handicap.
Chromosomal abnormalities are diagnosed by chromosome analysis in early pregnancy, using amniocentesis or chorionic villus sampling.... chromosomal abnormalities
Chromosome analysis in children and adults uses white blood cells taken from a blood sample. Analysis of the sex chromosomes may be carried out to establish the chromosomal sex of a child in cases where the genitals have an ambiguous appearance (see genitalia, ambiguous); to confirm or exclude the diagnosis of chromosomal abnormalities; or to investigate infertility.... chromosome analysis
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