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Tuberous sclerosis
1008
enable implementation of the key proposals set out in the legislation. Money is guaranteed only for the guardian-ad-litem programme, which appoints an independent social worker to represent the child’s interests in court. Social service departments claim that there are too few social workers to allow for the Act’s ideals to be met
effectively. Moreover, interpretation of the new law is left to individual local authorities, with no clear policy on the minimum requirements that must be provided. Although the Act’s success or failure will be monitored by the Children Act Advisory Committee, which will receive information from 104 regional committees, there is no indication of how difficulties will be solved or what powers this monitoring body will have to enforce improvements. A laissez-faire approach may be inappropriate for a service already hard-pressed for cash; new funds do not have to be channelled into the schemes proposed by the Act; and local authorities may choose to direct money into other, specifically local needs. Children who have been placed for adoption now have new opportunities for identifying their natural parents. An Adoption Contact Register was established in May, 1991, which allows natural parents to assure an adopted person that communication would be welcome. Responsibility for initiating contact remains with the adoptee, who may obtain application forms from the Office of Population Censuses and Surveys, General Register Office,
Adoption Section, Smedley Hydro, Trafalgar Road, Birkdale, Southport PR8 2HH, UK.
Action
Infertility in cystic fibrosis One of the many puzzling features of cystic fibrosis (CF) is why it is so often associated with infertility. The disease is caused by a mutation in the gene encoding a protein known as cystic fibrosis transmembrane conductance regulator (CFTR), and studies ofth§ tissue distribution of CFTR are beginning to throw some light’on the relation between cell-specific expression of the protein and CF pathology. In male CF patients obstruction or absence of the vas deferens is one common cause of infertility; another is dysmorphic sperm, which result from a disturbance of spermatogenesis. Trezise and Buchwald have now shown that expression of the CFTR gene in rats is regulated during the cycle of the seminiferous tubule and is normally maximum in round spermatid stages VII and VIII, with little expression in germ cells at other stages of maturation.1 This finding, the authors suggest, indicates that CFTR has a critical role in spermatogenesis and that a deficiency of this function contributes to male infertility in CF. CFTR is not expressed in Sertoli or Leydig cells, the somatic cells of the testis. A raised concentration of chloride ion in exocrine gland secretions is another primary manifestation of CF, and there is evidence that in some tissues CFTR functions as a regulated chloride channel. Trezise and Buchwald suggest that stage-specific expression of CFTR may indicate either a critical requirement for a regulated chloride channel during normal spermatogenesis or involvement of CFTR in the transport of some other substrate important for sperm maturation. Abnormal sperm maturation presents an unusually difficult obstacle in the treatment of infertile CF patients, since it will generally preclude in-vitro fertilisation as an option.
against asthma
The management of asthma has undergone a minor revolution in the past five years, from treatment of symptoms as they occur to prevention of symptoms by treating the underlying disorder. Morbidity and mortality, however, remain unacceptably high, and the British Thoracic Society, which last year set guidelines for asthma management, identified inadequate supervision as a contributory factor. A continuing concern is that preventable factors play a part in 80% of asthma deaths. Action Asthma, a pressure group formed a year ago by hospital doctors and general practitioners, has submitted to the Department of Health seven proposals for improving the management of asthma. The group recommends that all asthma patients be reviewed clinically every year and that GPs keep a register of their asthmatic patients. And it wants hospitals and GPs in every health district to establish protocols for hospital admission and discharge of such patients. The lives of asthma patients are unacceptably restricted, says the group, and their illness imposes a considerable burden on the National Health Service. Both diagnosis and management need to be improved. Action Asthma’s seven-point plan is a response to the Government’s discussion document, The Health of the Nation, which invited interested parties to identify key areas of action to promote good health. The group asks the Department of Health to direct family health service authorities to approve asthma clinics as health promotion activities. In its submission the group calls on the Government to publish annual data relating to time off work and school caused by asthma and to set up an inquiry into asthma deaths. As a way to cut passive smoking, which is high on its list of targets, Action Asthma wants the Government to ban smoking in all public places. In a national survey carried out by the group 57% of 61 000 asthmatics said that they were significantly affected by smoky atmospheres, 32% being affected a great deal. Helping patients to understand their illness is an essential element of Action Asthma’s plan, and the group has produced a checklist of ten questions for patients to ask their doctors-what, for instance, they can do to control an attack; how to monitor their symptoms; and what peak flow readings to aim for. "Asthma patients sadly adapt their lifestyles to their condition", said a spokesman for the group earlier this week, "and too easily accept the restrictions which it imposes". Instead, he said, they "should be discussing their asthma fully with their doctor and together they should aim to attain a life free from symptoms".
1. Trezise
AEO, Buchwald M. In vivo cell-specific expression of the transmembrane conductance regulator. Nature 1991; 353: 434-37.
cystic fibrosis
Tuberous sclerosis The first clear description of tuberous sclerosis (TS) is usually attributed to Desire-Magloire Bournville, who in 1880 noted white "tubers" and cerebral sclerosis at necropsy in the brains of patients with mental retardation and epilepsy. In 1908 Vogt described the classical triad of seizures, mental retardation, and a facial rash. Diagnosis is not, however, always clear cut, because the manifestations of the disease are protean, and 50% of people affected are of normal intelligence. Absolute certainty of diagnosis in all cases will not be possible until a genetic test becomes available, and even then the procedure is unlikely to be straightforward, because at least two gene loci (one on chromosome 9) are thought to produce the TS phenotype. The Tuberous Sclerosis Association has produced a booklet1 to guide medical readers through the certainties and uncertainties of TS, its clinical features, diagnosis, and treatment. A section on genetic advice recommends that blood samples should be collected, for future analysis, from patients’ relevant family members. However, family studies will be helpful in only a minority of cases, since 75% appear to arise from spontaneous mutations. 1. Tuberous sclerosis ... more than just skin deep. Available free of charge from the Tuberous Sclerosis Association, Little Barnsley Farm, Catshill, Bromsgrove, Worcestershire B61 0NQ (telephone 0527 71898).
Medical Art Society As Big Ben struck 6 o’clock last Tuesday evening, members of the Medical Art Society gathered a stone’s throw away in the Westminster Gallery for their annual exhibition. 141 paintings and drawings and 11 sculptures competed for this year’s Baron ver Heyden de Lancey prizes. The prize for sculpture went to Dr Mary Wood for her two seated figures carved in mahogany, Difference of Opinion. The prize for painting/drawing was shared by Dr Harold Hewitt for Disjecta Memoria, Marlow and Dr Myrna Guest for Head of Auzalia. Each prize is worth £ 150, to be used to further the link between art and medicine. Details of membership of the society may be obtained from Claire Hunter, Medical Art Society, 1 Wimpole Street, London WIM 8AE, UK.
enable implementation of the key proposals set out in the legislation. Money is guaranteed only for the guardian-ad-litem programme, which appoints an independent social worker to represent the child’s interests in court. Social service departments claim that there are too few social workers to allow for the Act’s ideals to be met
effectively. Moreover, interpretation of the new law is left to individual local authorities, with no clear policy on the minimum requirements that must be provided. Although the Act’s success or failure will be monitored by the Children Act Advisory Committee, which will receive information from 104 regional committees, there is no indication of how difficulties will be solved or what powers this monitoring body will have to enforce improvements. A laissez-faire approach may be inappropriate for a service already hard-pressed for cash; new funds do not have to be channelled into the schemes proposed by the Act; and local authorities may choose to direct money into other, specifically local needs. Children who have been placed for adoption now have new opportunities for identifying their natural parents. An Adoption Contact Register was established in May, 1991, which allows natural parents to assure an adopted person that communication would be welcome. Responsibility for initiating contact remains with the adoptee, who may obtain application forms from the Office of Population Censuses and Surveys, General Register Office,
Adoption Section, Smedley Hydro, Trafalgar Road, Birkdale, Southport PR8 2HH, UK.
Action
Infertility in cystic fibrosis One of the many puzzling features of cystic fibrosis (CF) is why it is so often associated with infertility. The disease is caused by a mutation in the gene encoding a protein known as cystic fibrosis transmembrane conductance regulator (CFTR), and studies ofth§ tissue distribution of CFTR are beginning to throw some light’on the relation between cell-specific expression of the protein and CF pathology. In male CF patients obstruction or absence of the vas deferens is one common cause of infertility; another is dysmorphic sperm, which result from a disturbance of spermatogenesis. Trezise and Buchwald have now shown that expression of the CFTR gene in rats is regulated during the cycle of the seminiferous tubule and is normally maximum in round spermatid stages VII and VIII, with little expression in germ cells at other stages of maturation.1 This finding, the authors suggest, indicates that CFTR has a critical role in spermatogenesis and that a deficiency of this function contributes to male infertility in CF. CFTR is not expressed in Sertoli or Leydig cells, the somatic cells of the testis. A raised concentration of chloride ion in exocrine gland secretions is another primary manifestation of CF, and there is evidence that in some tissues CFTR functions as a regulated chloride channel. Trezise and Buchwald suggest that stage-specific expression of CFTR may indicate either a critical requirement for a regulated chloride channel during normal spermatogenesis or involvement of CFTR in the transport of some other substrate important for sperm maturation. Abnormal sperm maturation presents an unusually difficult obstacle in the treatment of infertile CF patients, since it will generally preclude in-vitro fertilisation as an option.
against asthma
The management of asthma has undergone a minor revolution in the past five years, from treatment of symptoms as they occur to prevention of symptoms by treating the underlying disorder. Morbidity and mortality, however, remain unacceptably high, and the British Thoracic Society, which last year set guidelines for asthma management, identified inadequate supervision as a contributory factor. A continuing concern is that preventable factors play a part in 80% of asthma deaths. Action Asthma, a pressure group formed a year ago by hospital doctors and general practitioners, has submitted to the Department of Health seven proposals for improving the management of asthma. The group recommends that all asthma patients be reviewed clinically every year and that GPs keep a register of their asthmatic patients. And it wants hospitals and GPs in every health district to establish protocols for hospital admission and discharge of such patients. The lives of asthma patients are unacceptably restricted, says the group, and their illness imposes a considerable burden on the National Health Service. Both diagnosis and management need to be improved. Action Asthma’s seven-point plan is a response to the Government’s discussion document, The Health of the Nation, which invited interested parties to identify key areas of action to promote good health. The group asks the Department of Health to direct family health service authorities to approve asthma clinics as health promotion activities. In its submission the group calls on the Government to publish annual data relating to time off work and school caused by asthma and to set up an inquiry into asthma deaths. As a way to cut passive smoking, which is high on its list of targets, Action Asthma wants the Government to ban smoking in all public places. In a national survey carried out by the group 57% of 61 000 asthmatics said that they were significantly affected by smoky atmospheres, 32% being affected a great deal. Helping patients to understand their illness is an essential element of Action Asthma’s plan, and the group has produced a checklist of ten questions for patients to ask their doctors-what, for instance, they can do to control an attack; how to monitor their symptoms; and what peak flow readings to aim for. "Asthma patients sadly adapt their lifestyles to their condition", said a spokesman for the group earlier this week, "and too easily accept the restrictions which it imposes". Instead, he said, they "should be discussing their asthma fully with their doctor and together they should aim to attain a life free from symptoms".
1. Trezise
AEO, Buchwald M. In vivo cell-specific expression of the transmembrane conductance regulator. Nature 1991; 353: 434-37.
cystic fibrosis
Tuberous sclerosis The first clear description of tuberous sclerosis (TS) is usually attributed to Desire-Magloire Bournville, who in 1880 noted white "tubers" and cerebral sclerosis at necropsy in the brains of patients with mental retardation and epilepsy. In 1908 Vogt described the classical triad of seizures, mental retardation, and a facial rash. Diagnosis is not, however, always clear cut, because the manifestations of the disease are protean, and 50% of people affected are of normal intelligence. Absolute certainty of diagnosis in all cases will not be possible until a genetic test becomes available, and even then the procedure is unlikely to be straightforward, because at least two gene loci (one on chromosome 9) are thought to produce the TS phenotype. The Tuberous Sclerosis Association has produced a booklet1 to guide medical readers through the certainties and uncertainties of TS, its clinical features, diagnosis, and treatment. A section on genetic advice recommends that blood samples should be collected, for future analysis, from patients’ relevant family members. However, family studies will be helpful in only a minority of cases, since 75% appear to arise from spontaneous mutations. 1. Tuberous sclerosis ... more than just skin deep. Available free of charge from the Tuberous Sclerosis Association, Little Barnsley Farm, Catshill, Bromsgrove, Worcestershire B61 0NQ (telephone 0527 71898).
Medical Art Society As Big Ben struck 6 o’clock last Tuesday evening, members of the Medical Art Society gathered a stone’s throw away in the Westminster Gallery for their annual exhibition. 141 paintings and drawings and 11 sculptures competed for this year’s Baron ver Heyden de Lancey prizes. The prize for sculpture went to Dr Mary Wood for her two seated figures carved in mahogany, Difference of Opinion. The prize for painting/drawing was shared by Dr Harold Hewitt for Disjecta Memoria, Marlow and Dr Myrna Guest for Head of Auzalia. Each prize is worth £ 150, to be used to further the link between art and medicine. Details of membership of the society may be obtained from Claire Hunter, Medical Art Society, 1 Wimpole Street, London WIM 8AE, UK.