[Clinical, biological, and genetic manifestations of familial hypercholesteremic tendon xanthomatosis. Report of 250 cases].
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Biomedical subjects
Publications and source records attributed to G Turpin.
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The aim of this study was to evaluate a range of alternative computer input devices suitable for people with disabilities and to provide comparative data that will enable health care professionals and users to make informed choices when selecting products. Our focus was on the potential advantages and disadvantages of individual product features as they related to the abilities and needs of different users. A sample of 14 alternative keyboards and pointing devices commonly used by people with disabilities were appraised by 35 disabled adults. A multi-disciplinary panel of independent assessors also appraised the products. We identified key factors regarding the set-up, personal acceptability, ease of use, design features, compatibility and potential limitations of each device. We found that difficulties in accessing computers could sometimes be reduced or overcome by adjusting the existing workstation and customizing computer settings rather than through additional technology. However, successful computer access often requires a combined approach, as a single piece of equipment will rarely provide a complete solution. If alternative computer input devices are necessary, it is likely that the hardware settings will need customizing.
Treatment for excessive growth has alway constituted, in the endocrinological field, and particularly in the United States where such problems are frequently encountered, an incompletely solved problem, where the use of oestrogen therapy for girls has given more or less convincing results. We believe we have found a better solution which comes closer to tackling the real problem by using a minima corticotherapy, delayed until a height 1 or 2 cm short of the desired height is reached and bridging the time later required for the conjugation cartilages to fuse, under the influence of physiological puberty which is allowed to occur naturally under this method. 11 adolescents (1 boy, 10 girls) underwent this treatment at ages between 12 1/2 and 16 (average age 14 years 2 months), at a standard dose of 15 mg/day of prednisone in 3 equal doses over a period of between 7 and 25 months with periodical checking of the clinical condition, radiological bone structure and satisfactory biological tolerance. Results on growth were quite clear: growth rhythm was immediately inhibited, falling from 7,2 cm to 0,5 cm/year and there was total arrest of expected growth and a final height of about 1 or 2 cm more than the height at the onset of treatment was reached. The quality of the results obtained by this method seems to be considerably better than those obtained by other methods which have so far been suggested and this is all the more important as, provided specialised clinical and biological checks are carried out very regularly, it is not countered by unfortunate side-effects. Side-effects either do not occur at all with this method or are very minor and always regress when treatment is terminated.
Treatment of great heights has always been in endocrinology, especially in the U.S.A., a problem hard to solve, estrogenotherapy being the main drug and giving more and less convincing results. We present a treatment with small doses of corticoids which seems more satisfactory starting at a level of two centimeters under the expected height. This treatment allows to get the complete join of the long bones cartilage under the influence of a normal puberty. 11 teen-agers (1 male and 10 females) have been given such a treatment at variable ages (range = 12 6/12 and 16, mean = 14 2/12). The standard dose was 15 mg per day of prednisone, 5 mg every eight hours, during 7 to 25 months, with periodical supervising of clinical, biological and radiological state. Results are excellent on growth : breakdown of growth rate is immediately obtained, from 7,2 cm to 0,5 cm every year. During all the treatment and after, the complete gain of height will not exceed 1 or 2 cnetimeters over the initial height. Quality of results is better than that of other methods; side effects, if any, are mild and disappear when stopping the treatment.
The adrenolytic agent, Op'DDD (Mitotane) has been employed for almost 50 years for treatment of Cushing's syndrome. Despite clinical observations of elevation of hepatic enzymes encountered in patients taking the drug, there are few published data regarding the frequency, time course and factors that might influence hepatic toxicity of Mitotane. We analysed 10 patients consecutively treated with Mitotane for Cushing's syndrome. We measured hepatic transaminase and gamma glutamyl transferase before, during and after treatment. The study population included 6 women and 4 males, with a mean age of 41 years. Seven patients presented Cushing's disease while two had adrenal tumours and one had an undetermined origin of Cushing's syndrome. After a progressive increase, patients were being treated with a mean dosage of 9 g per day. All patients had elevation of either GGT or ALAT and all but one had elevation of transaminase (the maximum increase was sixfold the basal value). The only variable correlated with hepatic increase was the body mass index. In contrast, the severity of the disease, alcohol intake, and other biological characteristics were not correlated with transaminase elevations. We conclude that transaminase increase is encountered in the vast majority of patients treated with Mitotane. Levels at which the drug should be withdrawn remain to be established.
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It is fairly frequent to encounter hyperlipemia on a rheumatic unit. Firstly the symptoms of certain idiopathic hyperlipemias sometimes include rheumatic changes. The latter include firstly, arthritis and tendinitis, above all observed in Type II hyperlipoproteinemia but also mentionned in Type IV, and secondly, exceptional bony lesions (generally of xanthoma type) which seem to occur exclusively in severe hyperglyceridemia. A few bone and joint diseases, such as gout or aseptic necrosis, frequently coexist with dyslipemia. Furthermore, various diseases may be simultaneously responsible for secondary hyperlipemia and involvement of the locomotor apparatus. Finally, the iatrogenic manifestations of the locomotor system appear mainly due to hypolipemic drugs, e.g. the muscle disorders seen in a few patients treated with clofibrate.
The cardiovascular consequences of mixed hyperlipideamia have been determined using a very large series of 950 cases. The early development and the prevalence of complications renders the disease severe, even in its minor forms of the grave forms of essential hypercholesterolaemia. Certain special features are worthy of mention:--the total loss of any parallelism between the biological severity and the development of vascular complications;--the probable role of slow pre-beta-lipoprotein in the determination of complications above all forms resistant to therapeutic reduction where its persistence is remarkable, which justifies the addition to known electrophoretic types III and II b a type, in the opinion of the authors just as common, with pre-beta-lipoprotein without any increase in L.D.L.
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There is some evidence that blockade of alpha 2-adrenoceptors on adipocytes may lead to an increase in lipolysis, We have therefore carried out a double blind comparative study of the effects of the selective alpha 2-antagonist yohimbine in human obesity. Nineteen obese volunteers participated in the study. Subjects were randomly allocated to the yohimbine group (n = 10, 18 mg yohimbine/day), or to the placebo group (n = 9). All subject were maintained on a hypocaloric diet (1000 kcal/day) during the 8 weeks of the study. There was no difference between the two groups with respect to either body weight, blood pressure supine and erect or heart rate during the different phases of the study. We found no difference in the lipid parameters (triglycerides, cholesterol, glycerol, beta-OH-butyrate, acetoacetate and free fatty acids) between the two groups. These results suggest that at the dose used the yohimbine does not influence the function of the alpha 2-adrenoceptors on the adipocytes; does not increase the lipolysis and does not represent an effective treatment of obesity.
The authors review various of the derivatives of the neural crest, consider their relationship with the APUD System, and deduce the physiopathological consequences applicable to these cells, whose only similarity lies in their common embryologic origin. They propose a system of classification of interrelated pathological conditions that these cells may show, an detail clinical information as well as the mode of genetic transmission of the principal neurocristopathic syndroms.
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On the basis of 3 cases of hypothalamic tumours (glioma of the hypothalamus or of the stem of the pituitary, glioma of the hypothalamus or of the optic chiasma, pinealoblastoma), the authors emphasise: (1) the existence of a special endocrine "formula" since it often combines anterior pituitary insufficiency, diabetes insipidus and moderate hyperprolactinaemia; (2) the remarkable efficacy, in all 3 cases, of cobalt therapy, tumour regression becoming complete during the 6 to 10 months following the end of radiotherapy; (3) the post-radiotherapeutic endocrine complications, endocrine deficit becoming greater whilst the tumour disappeared; (4) the diagnostic possibilities and above all regular surveillance now made possible by tomodensitometry.