Journal of the Royal College of Physicians of London最新文献

This lecture traces recent advances in knowledge of the muscular dystrophies, as well as their increasing complexity. They are described through the eyes of the author from his first exposure to and complete ignorance of the disease in the late 1950s, through the advent of modern techniques, to the molecular genetic revolution, with the recognition of individual genes and proteins for disorders within the muscular dystrophy umbrella. There initially seemed to be a logical sequence of linked membrane proteins from dystrophin in Duchenne and Becker dystrophy, through the dystrophin-associated glycoproteins (sarcoglycans) in some of the limb girdle muscular dystrophies (LGMD), to the extracellular matrix protein merosin (alpha-2 laminin) in congenital muscular dystrophy (CMD). The first spoke in the wheel came with the discovery of a calcium activated protease enzyme, calpain 3, in one form of LGMD, and subsequently another novel non-membrane protein, dysferlin, in another. There are currently at least eight distinct genetic forms of LGMD alone, and another eight separate genetic entities in the CMD group. This has highlighted our ignorance of the pathogenesis of the muscular dystrophies in relation to a diverse array of protein deficiencies. To compound things further, the X-linked and dominant forms of Emery-Dreifuss muscular dystrophy have recently been linked to emerin and lamin A/C, respectively, two proteins of the nuclear membrane, opening up yet another new ballpark of discovery.

Single-issue compound or class related anxieties about chemical exposures are often the focus of concern for groups that seek to affect the regulatory process itself or the regulatory status of compounds that have passed through it. A characteristic of these groups is an imperfect understanding and use of science, in particular in the evaluation of data. Studies which have been discredited are cited repeatedly and the role of confounding factors is not generally acknowledged. The regulation of medicines, devices, pesticides and some household chemicals depends on the use of a methodology that follows strict protocols. This involves testing in many systems including mammals, other vertebrates, invertebrates, soil macrobiota or ground water, as examples, with often well-defined schemes of interpretation which facilitate extrapolation between species. A complex risk evaluation will then be made for different groups (by age, sex, or occupation, say) or targets (patients, farmers, consumers and vulnerable non-human species). Focusing on an effect in a single group may suggest interventions which will be damaging for others.

Aim: We examined the cost effectiveness of a single consultation strategy to manage patients referred with TIA or stroke to our cerebrovascular disease (CVD) clinic, where all relevant investigations (blood tests, CT brain scan and carotid Dopplers) were obtained prior to the clinic appointment.

Design: Retrospective study of patients referred to the CVD clinic at St George's Hospital, London between October 1995 and 1996.

Results: Of 211 new patients seen in the clinic, 73% had CVD; 146 (68%) patients had imaging studies prior to clinic attendance. Of these, 132 (90%) were managed with a single consultation. This strategy cost 5,700 Pounds less than if these patients had been followed up.

Conclusion: Performing all relevant investigations prior to clinic attendance allowed a fully informed discussion with the patient at a single consultation and was cost effective.

Physicians must now openly demonstrate their competence and ability to perform their role as consultants. Measures have been developed which allow early identification of problems and provide procedures to examine in detail where and when problems arise. A number of organisations will be involved and efforts must be made to co-ordinate the various initiatives. One note of caution, however. Assuming that regular peer review is accepted, that CHI carry out a four-year cycle of visits to every trust in the land, that all visitors in such procedures have to be trained to do the job, that the visitors must be engaged in active clinical practice, that at home appraisal audit and assessment are in progress, the question inevitably arises as to where all the personnel will come from and what happens to clinical work in our under-doctored country? Change certainly stimulates excitement about the future.