The just provision of health care: a reply to Elizabeth Telfer. (25/14168)

Dr Hillel Steiner in this reply to Elizabeth Telfer takes each of her arguments for different arrangements of a health service and examines them--'four positions which can be located on a linear ideological spectrum'--and adds a fifth which could have the effect of 'turning the alleged linear spectrum into a circle'. Underlying both Elizabeth Telfer's article and Dr Steiner's reply, the base is inescapably a 'political' one, but cannot be abandoned in favour of purely philosophical concepts. Whatever the attitude of mind of the reader of these two papers to the provision of a health service, the stimulus to more careful assessments of our own National Health Service and its problems can only be good.  (+info)

The case for a statutory 'definition of death'. (26/14168)

Karen Quinlan, the American girl who has lain in deep coma for many months, is still 'alive', that is to say, her heart is still beating and brain death has not occurred. However, several other cases have raised difficult issues about the time of death. Dr Skegg argues that there is a case for a legal definition of death enshrined in statutory form. He suggests that many of the objections to a statutory provision on death are misplaced, and that a statute concerning the occurrence of death could remove all doubts in the minds of both doctors and public as to whether a 'beating heart cadaver' was dead or alive for legal purposes.  (+info)

Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis. (27/14168)

21-hydroxylase deficiency is a recessively inherited disorder of steroidogenesis, resulting from mutations in the CYP21 gene. This 3.5 kb gene and a highly related CYP21P pseudogene reside on tandemly duplicated 30 kb segments of DNA in the class III HLA region, and the great majority of pathogenic mutations result from sequence exchanges involving the duplicated units. We now describe a comprehensive survey of CYP21 mutations in the British population, encompassing a screen for 17 different mutations in a total of 284 disease chromosomes. The most common mutations were as follows: large scale deletions/conversions (45% of the affected chromosomes), the intron 2 splice mutation (30.3%), R357W (9.8%), and I172N (7.0%). Mutations were detected in over 92% of the chromosomes examined, suggesting that accurate DNA based diagnosis is possible in most cases using the described strategy. In order to extend highly accurate prenatal diagnosis to all families where samples are available from a previously affected child, we have developed a linkage analysis approach using novel, highly informative microsatellite markers from the class III HLA region.  (+info)

The spouse as a kidney donor: ethically sound? (28/14168)

A shortage of cadaver donor organs requires transplant units to examine all possible alternatives. Transplantation from living donors accounts for only approximately 10% of kidney transplants in the UK. Recent studies have shown that the results of kidney transplantation between spouses are at least as good as those of well-matched cadaver organs, but very few transplants of this type have been performed in this country so far. As part of the assessment process, the proposed donor and recipient are required to provide written statements about the issues. We reproduce here the personal statements made by one of our patients and his wife: we believe that the statements support our contention that spousal transplantation is ethically justifiable and should be more widely available. We report our early experience in Bristol with seven kidney transplants from spousal donors and we encourage other renal units in this country and elsewhere to consider this method of improving the prospects of kidney transplantation for their patients.  (+info)

'Should a mammographic screening programme carry the warning: screening can damage your health!'? (29/14168)

The balanced presentation afforded by convening a Citizens' Jury when considering a major question such as the introduction of a breast screening programme is advocated. This method would enable account to be taken of all the costs, both human and financial, to all those affected, both participating and organizing, as well as the benefits. Provision of such a democratic opportunity enables consideration to be given to a broad range of factors, by selection of an appropriate range of witnesses, with the advantage of involving the lay public in this decision-making process. Attendance by health correspondents, medical journalists and other media representatives enables publicization of a democracy in action whilst helping to inform the wider debate. Such an exercise could inform whether the NHS BSP should continue in its current form.  (+info)

Identification of a C/G polymorphism in the promoter region of the BRCA1 gene and its use as a marker for rapid detection of promoter deletions. (30/14168)

Reduced expression of BRCA1 has been implicated in sporadic breast cancer, although the mechanisms underlying this phenomenon remain unclear. To determine whether regulatory mutations could account for the reduced expression, we screened the promoter region by sequencing in 20 patients with sporadic disease. No mutations were detected; however, a new polymorphism consisting of a C-to-G base change within the beta-promoter was identified, with the frequency of the G allele being 0.34. Close to complete linkage disequilibrium was found between this marker and the Pro871 Leu polymorphism, situated in exon 11, which has previously been shown not to be associated with breast or ovarian cancer. This indicates that the C/G polymorphism is also unlikely to play a role in either disease. However, the strength of linkage disequilibrium between these markers permitted their use for rapid screening for genomic deletions within BRCA1. A series of 214 cases with familial breast cancer were analysed using this approach; 88/214 were heterozygous for the promoter polymorphism, thereby excluding a deletion in this region. Among the remaining patients, one hemizygous case reflecting a promoter deletion was successfully identified. Therefore, this study indicates that deletions within the beta-promoter region of BRCA1 are an uncommon event in familial breast cancer. Furthermore, it suggests that mutations within the BRCA1 promoter are unlikely to account for the reported decreased expression of BRCA1 in sporadic disease.  (+info)

General practice and the new science emerging from the theories of 'chaos' and complexity. (31/14168)

This paper outlines the general practice world view and introduces the main features of the theories of 'chaos' and complexity. From this, analogies are drawn between general practice and the theories, which suggest a different way of understanding general practice and point to future developments in general practice research. A conceptual and practical link between qualitative and quantitative methods of research is suggested. Methods of combining data about social context with data about individuals and about biomedical factors are discussed. The paper emphasizes the importance of data collected over time and of considering the multiplicative interactions between variables. Finally, the paper suggests that to develop this type of research, general practice many need to reassess systems of categorizing and recording appropriate data.  (+info)

Estimation of the basic reproduction number of BSE: the intensity of transmission in British cattle. (32/14168)

The basic reproduction number, R0, of an infectious agent is a key factor determining the rate of spread and the proportion of the host population affected. We formulate a general mathematical framework to describe the transmission dynamics of long incubation period diseases with complex pathogenesis. This is used to derive expressions for R0 of bovine spongiform encephalopathy (BSE) in British cattle, and back-calculation methods are used to estimate R0 throughout the time-course of the BSE epidemic. We show that the 1988 meat and bonemeal ban was effective in rapidly reducing R0 below 1, and demonstrate that this indicates that BSE will be unable to become endemic in the UK cattle population even when case clustering is taken into account. The analysis provides some insight into absolute infectiousness for bovine-to-bovine transmission, indicating maximally infectious animals may have infected up to 400 animals each. The relationship between R0 and the early stages of the BSE epidemic and the requirements for additional research are also discussed.  (+info)