Annales de médecine interne
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X-linked adrenoleukodysrophy is the most frequent genetic disorder affecting central and peripheral nervous system myelin. One of the biochemical abnormalities is the accumulation of very long chain fatty acids (VLCFA) in tissues and body fluids subsequent to defective catabolism in the peroxysomes. The principal characteristic of the disease is an association between a neurological disorder and an endocrine disorder: primary adrenal insufficiency and testicular failure. ⋯ Gene therapy is a promising perspective. Lovastatin and 4-phenlbutyrate have recently been shown to normalize plasma VLCFA levels. Their therapeutic efficacy must be assessed in a randomized trial.
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Ann Med Interne (Paris) · Feb 2000
Review Case Reports[Aneurysm of the sinus of Valsalva. Apropos of a case of right intra-atrial rupture].
An unusual systolo-diastolic heart murmur was discovered fortuitously in a 39-year-old man undergoing a routine check-up. Transesophageal echocardiography gave the diagnosis of Valsalva sinus aneurysm ruptured into the right atrium. ⋯ We reviewed the literature on this unusual condition, focusing on the pathophysiological, clinical, diagnostic and therapeutic aspects. Transesophageal echocardiography provides the diagnosis.
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Ann Med Interne (Paris) · Dec 1999
Review Comparative Study[What present strategies are helpful in improving transfusion safety in France?].
Transfusion safety rests on measures ensuring that patients are transfused in accordance with the requirements of state-of-the-art scientific knowledge. This strict attitude is part of a quality approach which now applies to all fields of health. Transfusion is historically characterized by its ambivalence: it was the first medical discipline which integrated Quality Assurance concepts, it was also the first which proved unable to respond adequately in the face of uncontrolled risks. ⋯ Numerous R&D; programs address substitution products. Transfusion safety requires all actors in the field of health being equally involved. Putting together experiences and know-how will continuously strengthen the quality approach adopted in transfusion.
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Hutchinson-Gilford progeria syndrome is a rare syndrome of premature aging with multiple skeletal abnormalities. We report one case. ⋯ Pronounced acro-osteolysis, osteolysis of the clavicle are the main features. Modern imaging is useful to diagnose the complications.
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Ann Med Interne (Paris) · Oct 1999
Review Case Reports[Hepatotoxicity caused by therapeutic doses of paracetamol in alcoholics. Report of 2 cases of fatal hepatitis in cirrhosis].
Paracetamol is a widely used medication as it is an effective analgesic and antipyretic. Because of the absence of gastro-intestinal side effects, it has been used as the analgesic of choice for alcoholic patients. ⋯ However, cases of severe liver damage have been reported after absorption of therapeutic doses of paracetamol in alcoholics. We report 2 cases with a fatal outcome and discuss the mechanisms of toxicity, the prognostic factors and treatment of such event.