Autosomal dominant gene Health Dictionary

Autosomal Dominant Gene: From 1 Different Sources


See under GENETIC DISORDERS.
Health Source: Medical Dictionary
Author: Health Dictionary

Gene

The functional unit of heredity. A segment of DNA (or RNA in certain viruses) that encodes a single protein or confers a specific trait.... gene

Gene Therapy

Gene therapy is the transfer of normal GENES into a patient to combat the effects of abnormal genes which are causing disease(s). The GENETIC ENGINEERING technique used is SOMATIC cell gene therapy in which the healthy gene is put into somatic cells that produce other cells – for example, stem cells that develop into BONE MARROW. Descendants of these altered cells will be normal and, when su?cient numbers have developed, the patient’s genetic disorder should be remedied. The abnormal gene, however, will still be present in the treated individual’s germ cells (eggs or sperm) so he or she can still pass the inherited defect on to succeeding generations.

Gene therapy is currently used to treat disorders caused by a fault in a single recessive gene, when the defect can remedied by introducing a normal ALLELE. Treating disorders caused by dominant genes is more complicated. CYSTIC FIBROSIS is an example of a disease caused by a recessive gene, and clinical trials are taking place on the e?ectiveness of using LIPOSOMES to introduce the normal gene into the lungs of someone with the disorder. Trials are also underway to test the e?ectiveness of introducing tumour-suppressing genes into cancer cells to check their spread.

Gene therapy was ?rst used in 1990 to treat an American patient. Eleven European medical research councils (including the UK’s) recommended in 1988 that gene therapy should be restricted to correcting disease or defects, and that it should be limited to somatic cells. Interventions in germ-line cells (the sperm and egg) to e?ect changes that would be inherited, though technically feasible, is not allowed (see CLONING; HUMAN GENOME).... gene therapy

General Paralysis Of The Insane

An outdated term for the tertiary stage of SYPHILIS.... general paralysis of the insane

Genetic Counselling

The procedure whereby advice is given about the risks of a genetic disorder and the various options that are open to the individual at risk. This may often involve establishing the diagnosis in the family, as this would be a prerequisite before giving any detailed advice. Risks can be calculated from simple Mendelian inheritance (see MENDELISM) in many genetic disorders. However, in many disorders with a genetic element, such as cleft lip or palate (see CLEFT PALATE), the risk of recurrence is obtained from population studies. Risks include not only the likelihood of having a child who is congenitally affected by a disorder, but also, for adults, that of being vulnerable to an adult-onset disease.

The options for individuals would include taking no action; modifying their behaviour; or taking some form of direct action. For those at risk of having an affected child, where prenatal diagnosis is available, this would involve either carrying on with reproduction regardless of risk; deciding not to have children; or deciding to go ahead to have children but opting for prenatal diagnosis. For an adult-onset disorder such as a predisposition to ovarian cancer, an individual may choose to take no action; to take preventive measures such as use of the oral contraceptive pill; to have screening of the ovaries with measures such as ultrasound; or to take direct action such as removing the ovaries to prevent ovarian cancer from occurring.

There are now regional genetics centres throughout the United Kingdom, and patients can be referred through their family doctor or specialists.... genetic counselling

Genetics

The science which deals with the origin of the characteristics of an individual or the study of HEREDITY.... genetics

Genetic Code

The message set out sequentially along the human CHROMOSOMES. The human gene map is being constructed through the work of the international, collaborative HUMAN GENOME project; so far, only part of the code has been translated and this is the part that occurs in the GENES. Genes are responsible for the PROTEIN synthesis of the cell (see CELLS): they instruct the cell how to make a particular polypeptide chain for a particular protein.

Genes carry, in coded form, the detailed speci?cations for the thousands of kinds of protein molecules required by the cell for its existence, for its enzymes, for its repair work and for its reproduction. These proteins are synthesised from the 20 natural AMINO ACIDS, which are uniform throughout nature and which exist in the cell cytoplasm as part of the metabolic pool. The protein molecule consists of amino acids joined end to end to form long polypeptide chains. An average chain contains 100–300 amino acids. The sequence of bases in the nucleic acid chain of the gene corresponds in some fundamental way to the sequence of amino acids in the protein molecule, and hence it determines the structure of the particular protein. This is the genetic code. Deoxyribonucleic acid (see DNA) is the bearer of this genetic information.

DNA has a long backbone made up of repeating groups of phosphate and sugar deoxyribose. To this backbone, four bases are attached as side groups at regular intervals. These four bases are the four letters used to spell out the genetic message: they are adenine, thymine, guanine and cystosine. The molecule of the DNA is made up of two chains coiled round a common axis to form what is called a double helix. The two chains are held together by hydrogen bonds between pairs of bases. Since adenine only pairs with thymine, and guanine only with cystosine, the sequences of bases in one chain ?xes the sequence in the other. Several hundred bases would be contained in the length of DNA of a typical gene. If the message of the DNA-based sequences is a continuous succession of thymine, the RIBOSOME will link together a series of the amino acid, phenylalanine. If the base sequence is a succession of cytosine, the ribosome will link up a series of prolines. Thus, each amino acid has its own particular code of bases. In fact, each amino acid is coded by a word consisting of three adjacent bases. In addition to carrying genetic information, DNA is able to synthesise or replicate itself and so pass its information on to daughter cells.

All DNA is part of the chromosome and so remains con?ned to the nucleus of the cell (except in the mitochondrial DNA). Proteins are synthesised by the ribosomes which are in the cytoplasm. DNA achieves control over pro-tein production in the cytoplasm by directing the synthesis of ribonucleic acid (see RNA). Most of the DNA in a cell is inactive, otherwise the cell would synthesise simultaneously every protein that the individual was capable of forming. When part of the DNA structure becomes ‘active’, it acts as a template for the ribonucleic acid, which itself acts as a template for protein synthesis when it becomes attached to the ribosome.

Ribonucleic acid exists in three forms. First ‘messenger RNA’ carries the necessary ‘message’ for the synthesis of a speci?c protein, from the nucleus to the ribosome. Second, ‘transfer RNA’ collects the individual amino acids which exist in the cytoplasm as part of the metabolic pool and carries them to the ribosome. Third, there is RNA in the ribosome itself. RNA has a similar structure to DNA but the sugar is ribose instead of deoxyribose and uracil replaces the base thymine. Before the ribosome can produce the proteins, the amino acids must be lined up in the correct order on the messenger RNA template. This alignment is carried out by transfer RNA, of which there is a speci?c form for each individual amino acid. Transfer RNA can not only recognise its speci?c amino acid, but also identify the position it is required to occupy on the messenger RNA template. This is because each transfer RNA has its own sequence of bases and recognises its site on the messenger RNA by pairing bases with it. The ribosome then travels along the chain of messenger RNA and links the amino acids, which have thus been arranged in the requisite order, by peptide bonds and protein is released.

Proteins are important for two main reasons. First, all the enzymes of living cells are made of protein. One gene is responsible for one enzyme. Genes thus control all the biochemical processes of the body and are responsible for the inborn di?erence between human beings. Second, proteins also ful?l a structural role in the cell, so that genes controlling the synthesis of structural proteins are responsible for morphological di?erences between human beings.... genetic code

Genetic Engineering

Genetic engineering, or recombinant DNA technology, has only developed in the past decade or so; it is the process of changing the genetic material of a cell (see CELLS). GENES from one cell – for example, a human cell – can be inserted into another cell, usually a bacterium, and made to function. It is now possible to insert the gene responsible for the production of human INSULIN, human GROWTH HORMONE and INTERFERON from a human cell into a bacterium. Segments of DNA for insertion can be prepared by breaking long chains into smaller pieces by the use of restriction enzymes. The segments are then inserted into the affecting organism by using PLASMIDS and bacteriophages (see BACTERIOPHAGE). Plasmids are small packets of DNA that are found within bacteria and can be passed from one bacterium to another.

Already genetic engineering is contributing to easing the problems of diagnosis. DNA analysis and production of MONOCLONAL ANTIBODIES are other applications of genetic engineering. Genetic engineering has signi?cantly contributed to horticulture and agriculture with certain characteristics of one organism or variant of a species being transfected (a method of gene transfer) into another. This has given rise to higher-yield crops and to alteration in colouring and size in produce. Genetic engineering is also contributing to our knowledge of how human genes function, as these can be transfected into mice and other animals which can then act as models for genetic therapy. Studying the effects of inherited mutations derived from human DNA in these animal models is thus a very important and much faster way of learning about human disease.

Genetic engineering is a scienti?c procedure that could have profound implications for the human race. Manipulating heredity would be an unwelcome activity under the control of maverick scientists, politicians or others in positions of power.... genetic engineering

General Dental Council

A statutory body set up by the Dentists Act which maintains a register of dentists (see DENTAL SURGEON), promotes high standards of dental education, and oversees the professional conduct of dentists. Membership comprises elected and appointed dentists and appointed lay members. Like other councils responsible for registering health professionals, the General Dental Council now comes under the umbrella of the new Council for Regulatory Excellence, a statutory body. (See APPENDIX 7: STATUTORY ORGANISATIONS.)... general dental council

General Dental Services

See DENTAL SURGEON.... general dental services

General Practice

A form of practice in which medical practitioners provide a wide range of primary health care services to people.... general practice

Generic Drug

A medicinal drug that is sold under its o?cial (generic) name instead of its proprietary (patented brand) name. NHS doctors are advised to prescribe generic drugs where possible as this enables any suitable drug to be dispensed, saving delay to the patient and sometimes expense to the NHS. (See APPROVED NAMES FOR MEDICINES.)... generic drug

Genetic Fingerprinting

This technique shows the relationships between individuals: for example, it can be used to prove maternity or paternity of a child. The procedure is also used in FORENSIC MEDICINE whereby any tissue left behind by a criminal at the scene of a crime can be compared genetically with the tissue of a suspect. DNA, the genetic material in living cells, can be extracted from blood, semen and other body tissues. The technique, pioneered in Britain in 1984, is now widely used.... genetic fingerprinting

Lethal Gene

A gene that produces a GENOTYPE which causes the death of an organism before that organism has reproduced – or which prevents it from reproducing. Lethal genes are usually RECESSIVE, so the organism will die only if both its ‘parents’ carry the gene. Should only one parent have the lethal gene, its consequences will be masked by the dominant ALLELE passed on by the normal parent.... lethal gene

Genesis

(Hebrew) Of the beginning; the first book of the Bible Genesies, Genesiss, Genessa, Genisa, Genisia, Genisis, Gennesis, Gennesiss... genesis

Dominant

A term used in genetics to describe one of the ways in which a gene is passed from parent to offspring. Many characteristics are determined by a single pair of genes, 1 of each pair being inherited from each parent. A dominant gene overrides an equivalent recessive gene. For example, the gene for brown eye colour is dominant, so if a child inherits the gene for brown eyes from 1 parent and the gene for blue eyes from the other, he or she will have brown eyes. Some genetic disorders are determined by a dominant gene. Examples include Marfan’s syndrome and Huntington’s disease. The child will have the disease if he or she inherits the gene from 1 or both parents.... dominant

Generalized Anxiety Disorder

A psychiatric illness characterized by chronic and persistent apprehension and tension that has no particular focus. There may also be physical symptoms such as trembling, sweating, lightheadedness, and irritability. The condition can be treated with psychotherapy or with drugs such as beta blockers, sedatives or tranquillizers that relieve symptoms but do not treat the underlying condition.

(See anxiety; anxiety disorders.)... generalized anxiety disorder

Genetic Disorders

These are caused when there are mutations or other abnormalities which disrupt the code of a gene or set of GENES. These are divided into autosomal (one of the 44 CHROMOSOMES which are not sex-linked), dominant, autosomal recessive, sex-linked and polygenic disorders.

Dominant genes A dominant characteristic is an e?ect which is produced whenever a gene or gene defect is present. If a disease is due to a dominant gene, those affected are heterozygous – that is, they only carry a fault in the gene on one of the pair of chromosomes concerned. A?ected people married to normal individuals transmit the gene directly to one-half of the children, although this is a random event just like tossing a coin. HUNTINGTON’S CHOREA is due to the inheritance of a dominant gene, as is neuro?bromatosis (see VON RECKLINGHAUSEN’S DISEASE) and familial adenomatous POLYPOSIS of the COLON. ACHONDROPLASIA is an example of a disorder in which there is a high frequency of a new dominant mutation, for the majority of affected people have normal parents and siblings. However, the chances of the children of a parent with the condition being affected are one in two, as with any other dominant characteristic. Other diseases inherited as dominant characteristics include spherocytosis, haemorrhagic telangiectasia and adult polycystic kidney disease.

Recessive genes If a disease is due to a recessive gene, those affected must have the faulty gene on both copies of the chromosome pair (i.e. be homozygous). The possession of a single recessive gene does not result in overt disease, and the bearer usually carries this potentially unfavourable gene without knowing it. If that person marries another carrier of the same recessive gene, there is a one-in-four chance that their children will receive the gene in a double dose, and so have the disease. If an individual sufferer from a recessive disease marries an apparently normal person who is a heterozygous carrier of the same gene, one-half of the children will be affected and the other half will be carriers of the disease. The commonest of such recessive conditions in Britain is CYSTIC FIBROSIS, which affects about one child in 2,000. Approximately 5 per cent of the population carry a faulty copy of the gene. Most of the inborn errors of metabolism, such as PHENYLKETONURIA, GALACTOSAEMIA and congenital adrenal hyperplasia (see ADRENOGENITAL SYNDROME), are due to recessive genes.

There are characteristics which may be incompletely recessive – that is, neither completely dominant nor completely recessive – and the heterozygotus person, who bears the gene in a single dose, may have a slight defect whilst the homozygotus, with a double dose of the gene, has a severe illness. The sickle-cell trait is a result of the sickle-cell gene in single dose, and sickle-cell ANAEMIA is the consequence of a double dose.

Sex-linked genes If a condition is sex-linked, affected males are homozygous for the mutated gene as they carry it on their single X chromosome. The X chromosome carries many genes, while the Y chromosome bears few genes, if any, other than those determining masculinity. The genes on the X chromosome of the male are thus not matched by corresponding genes on the Y chromosome, so that there is no chance of the Y chromosome neutralising any recessive trait on the X chromosome. A recessive gene can therefore produce disease, since it will not be suppressed by the normal gene of the homologous chromosome. The same recessive gene on the X chromosome of the female will be suppressed by the normal gene on the other X chromosome. Such sex-linked conditions include HAEMOPHILIA, CHRISTMAS DISEASE, DUCHENNE MUSCULAR

DYSTROPHY (see also MUSCLES, DISORDERS OF – Myopathy) and nephrogenic DIABETES INSIPIDUS.

If the mother of an affected child has another male relative affected, she is a heterozygote carrier; half her sons will have the disease and half her daughters will be carriers. The sister of a haemophiliac thus has a 50 per cent chance of being a carrier. An affected male cannot transmit the gene to his son because the X chromosome of the son must come from the mother; all his daughters, however, will be carriers as the X chromosome for the father must be transmitted to all his daughters. Hence sex-linked recessive characteristics cannot be passed from father to son. Sporadic cases may be the result of a new mutation, in which case the mother is not the carrier and is not likely to have further affected children. It is probable that one-third of haemophiliacs arise as a result of fresh mutations, and these patients will be the ?rst in the families to be affected. Sometimes the carrier of a sex-linked recessive gene can be identi?ed. The sex-linked variety of retinitis pigmentosa (see EYE, DISORDERS OF) can often be detected by ophthalmoscopic examination.

A few rare disorders are due to dominant genes carried on the X chromosome. An example of such a condition is familial hypophosphataemia with vitamin-D-resistant RICKETS.

Polygenic inheritance In many inherited conditions, the disease is due to the combined action of several genes; the genetic element is then called multi-factorial or polygenic. In this situation there would be an increased incidence of the disease in the families concerned, but it will not follow the Mendelian (see MENDELISM; GENETIC CODE) ratio. The greater the number of independent genes involved in determining a certain disease, the more complicated will be the pattern of inheritance. Furthermore, many inherited disorders are the result of a combination of genetic and environmental in?uences. DIABETES MELLITUS is the most familiar of such multi-factorial inheritance. The predisposition to develop diabetes is an inherited characteristic, although the gene is not always able to express itself: this is called incomplete penetrance. Whether or not the individual with a genetic predisposition towards the disease actually develops diabetes will also depend on environmental factors. Diabetes is more common in the relatives of diabetic patients, and even more so amongst identical twins. Non-genetic factors which are important in precipitating overt disease are obesity, excessive intake of carbohydrate foods, and pregnancy.

SCHIZOPHRENIA is another example of the combined effects of genetic and environmental in?uences in precipitating disease. The risk of schizophrenia in a child, one of whose parents has the disease, is one in ten, but this ?gure is modi?ed by the early environment of the child.... genetic disorders

Genetic Screening

A screening procedure that tests whether a person has a genetic make-up that is linked with a particular disease. If so, the person may either develop the disease or pass it on to his or her o?spring. When an individual has been found to carry a genetically linked disease, he or she should receive genetic counselling from an expert in inherited diseases.

Genetic screening is proving to be a controversial subject. Arguments are developing over whether the results of such screenings should be made available to employers and insurance companies – a move that could have adverse consequences for some individuals with potentially harmful genetic make-ups. (See GENES; GENETIC DISORDERS.)... genetic screening

Computer-generated Prescriptions

The Royal College of General Practitioners has issued guidelines on the use of computer-generated prescriptions for drugs other than controlled drugs. The guidelines include rules on giving the patient’s name, address and date of birth with the responsible prescribing doctor’s name at the bottom, along with his or her surgery address and telephone number. The prescription has to be signed by the doctor. Several other requirements are included to minimise the risk of prescription-tampering, fraud or the inclusion of identi?able con?dential information. Full details of the guidelines appear in the British National Formulary, published every six months.... computer-generated prescriptions

Dominant Gene

See GENETIC DISORDERS.... dominant gene

Gene Expression

The full use of the information in a gene via transcription and translation leading to production of a protein.... gene expression

Gene Testing

See GENETIC SCREENING.... gene testing

Genera

Comprising similar species; a rank between Family and Species.... genera

General Hospital

A hospital providing a variety of services, including medicine and surgery, to meet the general medical needs of the community it serves.... general hospital

General Liability Insurance

Insurance which covers the risk of loss for most accidents and injuries to third parties (the insured and its employees are not covered) which arise from the actions or negligence of the insured, and for which the insured may have legal liability, except those injuries directly related to the provision of professional health care services (the latter risks are covered by professional liability insurance).... general liability insurance

General Optical Council

The statutory body that regulates the professions of ophthalmic OPTICIAN (optometrist) and dispensing optician. It promotes high standards of education and professional conduct and was set up by the Opticians Act 1958.... general optical council

Generation Effect

Variations in health status that arise from the different causal factors to which each birth cohort in the population is exposed as the environment and society change. Each consecutive birth cohort is exposed to a unique environment that coincides with its life span.... generation effect

Generic Benchmark

See “benchmark”.... generic benchmark

Generic Drug Substitution

Generic drugs have been licensed as equivalent to brand name drugs. Generics are usually less expensive and they may be substituted by the dispenser.... generic drug substitution

General Medical Council (gmc)

A statutory body of elected and appointed medical practitioners and appointed lay members with the responsibility of protecting patients and guiding doctors in their professional practice. Set up by parliament in 1858 – at the request of the medical profession, which was concerned by the large numbers of untrained people practising as doctors – the GMC is responsible for setting educational and professional standards; maintaining a register of quali?ed practitioners; and disciplining doctors who fail to maintain appropriate professional standards, cautioning them or temporarily or permanently removing them from the Medical Register if they are judged un?t to practise.

The Council is funded by doctors’ annual fees and is responsible to the Privy Council. Substantial reforms of the GMC’s structure and functions have been and are still being undertaken to ensure that it operates e?ectively in today’s rapidly evolving medical and social environment. In particular, the Council has strengthened its supervisory and disciplinary functions, and among many changes has proposed the regular revalidation of doctors’ professional abilities on a periodic basis. The Medical Register, maintained by the GMC, is intended to enable the public to identify whom it is safe to approach to obtain medical services. Entry on the Register shows that the doctor holds a recognised primary medical quali?cation and is committed to upholding the profession’s values. Under revalidation requirements being ?nalised, in addition to holding an initial quali?cation, doctors wishing to stay on the Register will have to show their continuing ?tness to practise according to the professional attributes laid down by the GMC.

Once revalidation is fully established, there will be four categories of doctor:

Those on the Register who successfully show their ?tness to practise on a regular basis.

Those whose registration is limited, suspended or removed as a result of the Council’s disciplinary procedures.

Those who do not wish to stay on the Register or retain any links with the GMC.

Those, placed on a supplementary list, who do not wish to stay on the main Register but who want to retain a formal link with the medical profession through the Council. Such doctors will not be able to practise or prescribe.... general medical council (gmc)

Genes

Humans possess around 30,000 genes which are the biological units of heredity. They are arranged along the length of the 23 pairs of CHROMOSOMES and, like the chromosomes, therefore come in pairs (see GENETIC CODE). Human beings have 46 chromosomes, comprising two sex chromosomes and 44 autosomes, but there is also a mitochondrial chromosome outside the cell nucleus (see CELLS) which is inherited from the mother.

Half of a person’s genes come from the father and half from the mother, and this mix determines the o?spring’s characteristics. (A quarter of a person’s genes come from each of the four grandparents.) Genes ful?l their functions by controlling the manufacture of particular proteins in the body. The power that genes have to in?uence the body’s characteristics varies: broadly, some are dominant (more powerful); others are recessive (less powerful) whose functions are overridden by the former. Genes are also liable to change or mutate, giving the potential for the characteristics of individuals or their o?spring to be altered. (See GENETIC CODE; GENETIC DISORDERS; GENE THERAPY; HUMAN GENOME.)... genes

Geneva

(French) Of the juniper tree Genever, Genevia, Genevra, Genevre, Genovefa, Genoveffa, Genoveva, Ginebra, Gena, Ginevre... geneva

Genevieve

(French) Of the race of women; the white wave

Genavieve, Geneve, Geneveeve, Genevie, Genivee, Genivieve, Gennie, Genny, Genoveva, Genoveva, Genica, Genna, Genae, Genaya, Genowefa, Ginerva, Ginebra, Ginessa, Ginevra... genevieve

Mainstream Housing / General Needs Housing

Housing not specifically designed for a particular user group.... mainstream housing / general needs housing

General Practitioner (gp)

A general practitioner (‘family doctor’; ‘family practitioner’) is a doctor working in primary care, acting as the ?rst port of professional contact for most patients in the NHS. There are approximately 35,000 GPs in the UK and their services are accessed by registering with a GP practice – usually called a surgery or health centre. Patients should be able to see a GP within 48 hours, and practices have systems to try to ensure that urgent problems are dealt with immediately. GPs generally have few diagnostic or treatment facilities themselves, but can use local hospital diagnostic services (X-rays, blood analysis, etc.) and can refer or admit their patients to hospital, where they come under the supervision of a CONSULTANT. GPs can prescribe nearly all available medicines directly to their patients, so that they treat 90 per cent of illnesses without involving specialist or hospital services.

Most GPs work in groups of self-employed individuals, who contract their services to the local Primary Care Trust (PCT) – see below. Those in full partnership are called principals, but an increasing number now work as non-principals – that is, they are employees rather than partners in a practice. Alternatively, they might be salaried employees of a PCT. The average number of patients looked after by a full-time GP is 1,800 and the average duration of consultation about 10 minutes. GPs need to be able to deal with all common medical conditions and be able to recognise conditions that require specialist help, especially those requiring urgent action.

Until the new General Medical Services Contract was introduced in 2004, GPs had to take individual responsibility for providing ‘all necessary medical services’ at all times to their patient list. Now, practices rather than individuals share this responsibility. Moreover, the contract now applies only to the hours between

8.00 a.m. and 6.30 p.m., Mondays to Fridays; out-of-hours primary care has become the responsibility of PCTs. GPs still have an obligation to visit patients at home on weekdays in case of medical need, but home-visiting as a proportion of GP work has declined steadily since the NHS began. By contrast, the amount of time spent attending to preventive care and organisational issues has steadily increased. The 2004 contract for the ?rst time introduced payment for speci?c indicators of good clinical care in a limited range of conditions.

A telephone advice service, NHS Direct, was launched in 2000 to give an opportunity for patients to ‘consult’ a trained nurse who guides the caller on whether the symptoms indicate that self-care, a visit to a GP or a hospital Accident & Emergency department, or an ambulance callout is required. The aim of this service is to give the patient prompt advice and to reduce misuse of the skills of GPs, ambulance sta? and hospital facilities.

Training of GPs Training for NHS general practice after quali?cation and registration as a doctor requires a minimum of two years’ post-registration work in hospital jobs covering a variety of areas, including PAEDIATRICS, OBSTETRICS, care of the elderly and PSYCHIATRY. This is followed by a year or more working as a ‘registrar’ in general practice. This ?nal year exposes registrars to life as a GP, where they start to look after their own patients, while still closely supervised by a GP who has him- or herself been trained in educational techniques. Successful completion of ‘summative assessment’ – regular assessments during training – quali?es registrars to become GPs in their own right, and many newly quali?ed GPs also sit the membership exam set by the Royal College of General Practitioners (see APPENDIX 8: PROFESSIONAL ORGANISATIONS).

A growing number of GP practices o?er educational attachments to medical students. These attachments provide experience of the range of medical and social problems commonly found in the community, while also o?ering them allocated time to learn clinical skills away from the more specialist environment of the hospital.

In addition to teaching commitments, many GPs are also choosing to spend one or two sessions away from their practices each week, doing other kinds of work. Most will work in, for example, at least one of the following: a hospital specialist clinic; a hospice; occupational medicine (see under OCCUPATIONAL HEALTH, MEDICINE AND DISEASES); family-planning clinics; the police or prison services. Some also become involved in medical administration, representative medicopolitics or journalism. To help them keep up to date with advances and changes in medicine, GPs are required to produce personal-development plans that outline any educational activities they have completed or intend to pursue during the forthcoming year.

NHS GPs are allowed to see private patients, though this activity is not widespread (see PRIVATE HEALTH CARE).

Primary Care Trusts (PCTs) Groups of GPs (whether working alone, or in partnership with others) are now obliged by the NHS to link communally with a number of other GPs in the locality, to form Primary Care Trusts (PCTs). Most have a membership of about 30 GPs, working within a de?ned geographical area, in addition to the community nurses and practice counsellors working in the same area; links are also made to local council social services so that health and social needs are addressed together. Some PCTs also run ambulance services.

One of the roles of PCTs is to develop primary-care services that are appropriate to the needs of the local population, while also occupying a powerful position to in?uence the scope and quality of secondary-care services. They are also designed to ensure equity of resources between di?erent GP surgeries, so that all patients living in the locality have access to a high quality and uniform standard of service.

One way in which this is beginning to happen is through the introduction of more overt CLINICAL GOVERNANCE. PCTs devise and help their member practices to conduct CLINICAL AUDIT programmes and also encourage them to participate in prescribing incentive schemes. In return, practices receive payment for this work, and the funds are used to improve the services they o?er their patients.... general practitioner (gp)

Generosa

(Spanish) One who is giving, generous

Generosah, Generose, Generosia, Generosea, Genera... generosa

Genet

(African) From the garden of paradise

Genete, Geneta, Genette, Genett, Genetta... genet

They Generally Heal Without Treatment Child Abuse

The maltreatment of children.

Child abuse may take the form of physical injury, sexual abuse, emotional mistreatment, and/or neglect; it occurs at all levels of society.

Being deprived or ill-treated in childhood may predispose people to repeat the pattern of abuse with their own children.

Children who are abused or at risk of abuse may be placed in care while the health and social services decide on the best course of action.... they generally heal without treatment child abuse

Genetic Probe

A specific fragment of DNA that is used in laboratory tests to determine whether particular genetic defects are present in an individual’s DNA.

Genetic probes are mainly used in antenatal diagnosis of genetic disorders, and in investigating whether people with a family history of a genetic disorder carry the defective gene themselves.... genetic probe

Acute Generalized Exanthematous Pustulosis

(toxic pustuloderma) a reaction to a medication, resulting in the appearance of fine sterile *pustules on inflamed skin; the pustules may easily be overlooked. Common causes include penicillins, and pustular psoriasis must be excluded from the diagnosis.... acute generalized exanthematous pustulosis

Autosomal Dominant

see dominant.... autosomal dominant

Autosomal Recessive

see recessive.... autosomal recessive

Gene Clone

see clone.... gene clone

General Health Questionnaire

(GHQ) a reliable screening tool published in 1978 for identifying minor psychiatric disorders, still frequently used for research in the general population. The 28-question version (GHQ28) is most commonly used, but the GHQ is available in lengths from 12 to 60 questions.... general health questionnaire

Diet - General

It is sometimes not possible to achieve worthwhile results from herbal medicine without due regard to the quality and type of food that enters the body. Suggested foods are those which experience has shown to assist recovery and conserve body energies that might otherwise be diverted towards elimination of metabolic wastes.

“A good and proper diet in disease is worth a hundred medicines and no amount of medication can do good to a patient who does not observe a strict regimen of diet.” (Charaka Samhita 300AD)

A healthy diet helps maintain the immune system, builds up reserves and hastens recovery from illness.

A good general diet includes foods low in fat, salt and high in fibre. All white sugar and white sugar products (chocolates, sweets, etc) should be replaced with natural sugars (honey, dates, figs, molasses, raisins etc). It should contain plenty of raw fresh fruit and vegetables; best prepared in a juice-press.

Vegetables should be conservatively cooked in very little water with little salt in a covered vessel. At least one mixed raw vegetable salad should be taken daily. Bread can be replaced by jacket potato, Soya- bean flour products or ripe bananas. Puddings, pastry and suety meals should be avoided.

Lean meat should be restricted to two or three parts a week with liberal inclusion of oily fish. Tofu, a Soya bean product, is an excellent alternative to meat. Three or four eggs, only, should be taken weekly.

Dairy produce (milk, butter, cream) contain cholesterol which thickens the blood, blocks arteries and increases resistance against the heart and major blood vessels, and should be taken sparingly.

Accept: Garlic, Onions, Lecithin, Muesli or Oatmeal porridge for breakfast or at other times during the day, yoghurt, honey.

Reject: fried foods, biscuits, confectionery.

Salt: replace with powdered Garlic, Celery or Kelp.

Alcohol: replace with fresh fruit or raw vegetable juices. Coffee is a risk factor raising cholesterol concentration; Dandelion coffee, Rutin or any one of many herbal teas available offer alternatives.

Avoid over-eating and meals when tired. Foods should be well masticated without liquid drinks; dry- feed. Plenty of liquid drinks, water etc should be taken between meals.

Supplements: Vitamin C 200mg, Vitamin E 200iu, morning and evening. Evening Primrose oil. Efamol produce a combined Evening Primrose and Fish oil capsule.

Dietary fibre can prevent certain colonic diseases. Treatment of disease by diet is preferred to drugs because it has the advantage of being free from side-effects. ... diet - general

General Household Survey

a rolling survey carried out annually (1971–2007) in Great Britain by the *Office for National Statistics. It included questions about the household and questions to be completed by all individuals aged over 16 within the household. It covered a wide variety of topics, such as health, employment, pensions, education, and income. It was succeeded (2007–12) by the general lifestyle survey. See also census.... general household survey

Generalized Anxiety Disorder Questionnaire

see GAD-7.

/// ... generalized anxiety disorder questionnaire

General Practitioner With Special Interest

(GPwSI, GPSI) see general practitioner.... general practitioner with special interest

Generic

1. adj. denoting a nonproprietary drug name, which is not protected by a trademark (see proprietary name). 2. adj. of or relating to a *genus. 3. n. a drug sold under its nonproprietary name.... generic

Genethics

n. the study of the social, moral, and political implications of knowledge and practice in genetics and genomics.... genethics

Neuralgia, General

 Pain along a nerve, i.e. pain in the shoulders from pressure on a spinal nerve serving the neck.

Alternatives. Black Cohosh, Cactus, Chamomile, Lady’s Slipper, Ginseng, Hops, Jamaica Dogwood, White Willow, Wild Lettuce, Valerian.

Chamomile tea (mild analgesic).

Tablets/capsules. Any of the above.

Formula. Ginseng 4; Black Cohosh 2; Skullcap 2; Mistletoe 1; Motherwort 1. Dose: Liquid Extracts: 1 teaspoon. Tinctures: 2 teaspoons. Powders: 500mg (two 00 capsules or one-third teaspoon). Thrice daily. Children: see: DOSAGE. Cayenne pepper (Capsicum) sometimes successful.

Topical. Poultice: Chamomile, Hops, Linseed or Bran. Acute cases (cold), chronic cases (hot). Grated or bruised Horseradish root. Evening Primrose oil. Hot Cider vinegar, Tincture Arnica or Hypericum. Aromatherapy. 2 drops each: Juniper, Lavender, Chamomile to 2 teaspoons vegetable oil. Light massage. Diet. High protein. Calcium-rich foods.

Supplements. Vitamin B-complex, B6, B12, Niacin, Magnesium, Dolomite, Zinc.

See: FACIAL and INTERCOSTAL NEURALGIA; DYSMENORRHOEA (neuralgia of the womb). ANTISPASMODICS. ... neuralgia, general

Anaesthesia, General

Loss of sensation and consciousness induced to prevent the perception of pain throughout the body during surgery. General anaesthesia is usually induced by intravenous injection of a barbiturate drug and maintained by inhalation of anaesthetic gases such as halothane, which may be introduced into the lungs via an endotracheal tube. During the anaesthetic, the pulse, blood pressure, and other vital signs are continuously monitored.

General anaesthetics have become much safer, and serious complications are rare.

However, severe pre-existing diseases such as lung or heart disorders increase the risks.

Minor after effects such as nausea and vomiting are usually controlled effectively with antiemetic drugs.... anaesthesia, general

General Medical Council

(GMC) the regulatory body of the medical profession in the UK, which was established in 1858 by the Medical Act and has statutory powers. It licenses doctors to practise medicine and has the power to revoke licences or place restrictions on practice. The governing body of the GMC, its Council, comprises 12 members, 6 of which are medically qualified and 6 of which are not. Its purpose is to protect, promote, and maintain the health and safety of the public by ensuring proper standards in the practice of medicine and medical education and training. Following various high-profile cases involving malpractice, there has been a shift in the role of the GMC from one of simple registration to that of *revalidation of doctors.

GMC website: includes the Council’s guide to Good Medical Practice... general medical council

General Practitioner

(GP) a doctor working in the community who provides family health services to a local area. General practitioners (also known as family doctors or family practitioners) may work on their own or in a group practice in which they share premises and other resources with one or more other doctors. GPs are usually the first port of call for most patients with concerns about their health. They look after patients with wide-ranging medical conditions and can refer patients with more complex problems to specialists, such as hospital consultants. Some GPs with additional training and experience in a specific clinical area take referrals for assessment and treatment that may otherwise have been referred directly to hospital consultants; these are known as GPs with a special interest (GPwSI or GPSI). Most GPs work solely within the *National Health Service but a few work completely privately. The current model of general practice allows for GPs to provide general medical services (GMS), the terms and conditions of which are governed by a national contract which is usually negotiated on an annual basis, or personal medical services (PMS), the terms and conditions of which are governed by locally negotiated contracts within a broad framework. The new primary care contract (nGMS contract) came into force in April 2004, allowing GPs to opt out of weekend and night (*out-of-hours) service provision for patients registered with their practice. In this period, patient care is usually provided by an out-of-hours cooperative or deputizing service. At the same time the government also introduced the *Quality and Outcomes Framework (QOF) as a means to improve the quality of care provided. Most GPs are *independent contractors although more recently there has been an increase in the number of salaried GPs. GPs may employ a variety of staff, including *practice nurses, *nurse practitioners, and counsellors.... general practitioner

Genetic Drift

the tendency for variations to occur in the genetic composition of small isolated inbreeding populations by chance. Such populations become genetically rather different from the original population from which they were derived.... genetic drift

Suppressor Gene

a gene that prevents the expression of another (non-allelic) gene.... suppressor gene

Preimplantation Genetic Diagnosis

(PGD) a diagnostic procedure carried out on embryos at the earliest stage of development, before implantation in the uterus. Access to these early embryos requires the *in vitro fertilization of egg cells: three days after fertilization one or two cells are aspirated from the six-cell embryo; alternatively, tissue is removed from an embryo at five or six days, when it has reached the *blastocyst stage. Isolated cells can then be genetically analysed, allowing the transfer of selected embryos to the mother. One of the major applications of PGD is for the detection (using the *FISH technique) of chromosomal abnormalities, especially *aneuploidies (e.g. Down’s syndrome); the procedure is used mainly in women who have had repeated miscarriages or have failed to achieve pregnancy after several IVF treatment cycles, which could be due to the presence of such abnormalities in the embryo. PGD can also be used to detect defective genes responsible for hereditary disorders (e.g. the commonest form of cystic fibrosis, Huntington’s disease) and genes associated with susceptibility to certain cancers. When a defect is detected, *genetic counselling is offered.... preimplantation genetic diagnosis



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