Presse Med
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Results of meta-analyses may differ from those of megatrials only because of the bias that could be introduced by a unadequate methodology of some meta-analyses. A meta-analysis must be based on an exhaustive review of the literature - of all studies, those with negative as well as positive results. The quality of a meta-analysis depends on the methodological quality of the studies it analyzes; accordingly they must be selected according to strict methodological inclusion and exclusion criteria, defined a priori. ⋯ Different analytic techniques must be used to assess possible publication or selection bias (the so-called "funnel plot" method) and potential sources of heterogeneity (heterogeneity test, meta-regression, etc.). Meta-analyses of individual data make it possible to assess the treatment effect according to patient characteristics. Prospective meta-analyses or those planned before clinical trials can help to limit data heterogeneity by making study protocols less varied (treatment, follow-up, evaluation, etc.).
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Hypertrophic cardiomyopathies have an estimated prevalence of 1/500. The analysis of the genes coding for the 10 most commonly involved sarcomeric proteins, fails to detect a mutation in about one third of cases. In some of these cases, cardiomyopathy can be attributed to a genetics storage disease with enlarged glycogen vacuolss (PRKAG2 deficiency, Danon disease, Pompe disease) and/or lysosomol vacuoles (Donon disease, Pompe disease, Fabry disease). ⋯ Danon disease is an X-linked dominant inherited disease characterized by cardiomyopathy, squeletal myopathy and mental retardation. Cardiac transplantation is indicated in both affected men and women. In the infantile form of Pompe disease, enzyme replacement therapy with olglucosidase alpha shows efficacy on cardiac failure with a significant regression of ventricular hypertrophy on ECG, echocardiography and radiography
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Fabry disease, rare X-linked disorder with deficient activity of alpha-galactosidase A, leads to a multiple organ failure caused by a progressive accumulation of the substrat globotriasocylceramide in cells. Peripheral nerve involvement, neuropathic pain and chronic acroparesthesiae, are the most frequently reported signs and often revealing the disease. They are secondary to the small nerve fibres (fibres 5), that explained the normality of electroneuromyography. ⋯ Affecting essentially the posterior circulation, their etiologies have to be clarified. MRI shows numerous silent lesions, increasing with age, mainly in small perforant arteries and pulvinar calcifications, due to on increase in cerebral perfusion with an impaired cerebral autoregulation, secondary to the glycosphingolipid storage in vascular endothelial cells. Enzyme replacement therapy could improve cerebral regional blood flow disturbances and painful neuropathy
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Primary epiploic appendagitis (PEA) is characterized by the association of localized abdominal pain with guarding. Depending on its localization, it may simulate acute appendicitis or diverticular sigmoiditis. Symptoms correspond to necrosis of the epiploic appendix due the torsion and vascular occlusion of the main epiploic pedicle. ⋯ PEA is a rare disease. It often occurs in mildly overweight adult men (around 35 years of age). The combination of acute abdomen with localized abdominal guarding and no evidence of fever or inflammation is the typical presentation. Surgical exploration (laparoscopy) can be avoided for diagnosis if helical CT shows a localized fatty zone situated outside the colon wall with a high attenuating dot point that corresponds to central necrosis of the epiploic appendix.
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Given that viruses may not have adapted to human-to-human transmission during their initial emergence in humans, they may thus be easier to control; accordingly, early detection by surveillance of unusual outbreaks is essential. Our healthcare systems are very vulnerable to viruses with a particular tropism for hospital personnel. International collaboration by teams of epidemiologists as well as virologists was the key to success against SARS (severe acute respiratory syndrome). ⋯ It was thus possible to isolate cases before they became contagious. SARS provided a good "dress rehearsal" and educated the public authorities about the issues of infectious pandemics. The specific types of new epidemics cannot be predicted but they are inevitable.