Myxoma of the mitral valve diagnosed by echocardiography.
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Biomedical subjects
Publications and source records attributed to M Longy.
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This case of an intracardiac myxoma observed in a 15 year old girl had several points of interest: the mode of presentation: the clinical signs were exclusively systemic and articular; the mode of diagnosis: 2D echocardiography demonstrated an immobile, dense mass about the size of a walnut implanted on the ventricular surface of the posterior mitral leaflet along the whole of its base and seemingly adherent to the ventricular wall; the intraventricular location of the tumour (exceptionally rare) and its mitral valve origin. The site of the tumour imposed mitral valve replacement but we were able to discuss the surgical approach using the results of echocardiography before surgery and a bioprosthesis was inserted to protect the maternal future of the patient.
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A patient is reported, carrier of a double aneuploidy (trisomy 21 and XXY) associated with a pericentric inversion 22 inherited from the mother. The role of this structural rearrangement at the origin of the double aneuploidy is discussed.
The patient, a 76-year-old man, was referred with fever, large ecchymotic lesions and ulcerative laryngitis. Blood counts showed a hemoglobin of 11 g/100 ml, hematocrit of 31%, red blood cell count of 3.5 X 10(12)/1, white blood cell count of 6.8 X 10(9)/1 and platelet count of 16.0 X 10(9)/1. The differential count showed 17% neutrophils, 4% lymphocytes, 40% promyelocytes and 39% myeloblasts. The sternal marrow sample showed a marked hypercellularity. Of the cells, 80-85% were hypergranular promyelocytes, some of them showing bundles of Auer rods. No granulocytic maturation was observed. A few erythroblasts were present. A disseminated intravascular coagulation was observed (fibrinogen 0.85 g/l, factor V 18%, fibrin degradation products 640 mg/l). The serum creatinin was at 217 micromol/1 and the urea at 16.8 mmol/1. The treatment (daunorubicin, heparin, platelet transfusion) was unsuccessful and the patient died three days after entering hospital. The bone marrow karyotype by direct examination showed only normal metaphases (32 photographed). All the metaphases from the unstimulated blood 48-h culture (25 photographed) were clonal, showing the pattern 47,XY,del(11) (q23),t(15;17) (q24? q22?), +mar. The marker was '16 like' in size but its origin could not be determined (Figs. 1 and 2).
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A 35-year-old man, sephardic jew, complains for the last eleven years of typical and frequent attacks of FMF. His liver is hypertrophic. Needle-biopsy reveals an extensive macrovacuolar triglyceride storage (60 per cent) and an active vascular congestion with erythrodiapedesis in the mild and centrolobular zone, without any necrosis, cellular infiltration nor fibrosis. Electron microscopy shows lipofuschin deposits and mild lesions of mitochondrias, endoplasmic reticulum. Blood triglycerides and apo B are rather low. After six weeks of colchicine treatment, needle biopsy shows no more active congestion nor erythrodiapedesis. Triglyceride storage lowers to 40 per cent. After seven months of colchicine treatment, triglyceride storage falls down to 12 per cent. FMF may be considered as a cause of fatty liver when there is not any cause else and only after deep decrease or disparition of triglyceride deposit by a long time colchicine treatment.
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A 21-year-old man presented with a 10-year history of a malabsorption syndrome of moderate severity, splenomegaly, and recurrent respiratory infections. Investigations revealed total atrophy of the villi and primary agammaglobulinemia. A gluten-free diet was ineffective. In spite of the absence of lambliasis, treatment with metronidazole produced objective clinical improvement and biological signs of healing of the malabsorption syndrome, but no alteration in the agammaglobulinemia. The authors discuss the relationship between total villous atrophy and primary agammaglobulinemias and the mode of action of metronidazole.