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Biomedical subjects

H Perrimond

Publications and source records attributed to H Perrimond.

At least 55 records · Page 3Linked to original sources
PubMed1980

Fibrinogen Marseille. A new case of congenital dysfibrinogenaemia.

A new case of congenital dysfibrinogenaemia was found in 2 members of the same family. The anomaly was characterized by an abnormal polymerization of fibrin monomers, whereas the release of fibrinopeptides by thrombin and fibrin stabilization by F XIII were normal. Investigation of the fibrinogen molecule did not lead to localizing the structural abnormality.

Adult↗
PubMed1979

[Thrombopenia and radial aplasia: 2 cases with platelet function and ultrastructural studies of megakaryocytes and platelets (author's transl)].

The authors report on two cases of congenital thrombopenia with radial aplasia. Both children display several formative abnormalities and a mild thrombopenia; hemorragic manifestations occurred in the first case only. Megacryoblastic to platelets series, as studied with electronic microscopy, show small-sized, "microcytic" and hypogranular megacaryocytes, displaying a maturative disorder (dysmegacaryocytopoiesis). In functional studies, platelets of the first patient show an imperfect nucleotidic release and do not agregate normally with ristocetin. The second case exhibits mostly a PF3 reduction. The variety of expression of the megacaryocytic-platelets disorders appears likewise in the squelettal and visceral malformations. The whole disorder could be ascribed to a pleiotropic abnormal gene with a variable expressivity.

Blood Platelets↗
PubMed1977

[Erythroleukemia revealed by diabetes insipidus].

A 4 year-old girl presented simultaneously with an erythroleukemia and a diabetes insipidus. The cytologic signs of dyserythropoiesis, the increase of some red blood cell glycolytic enzymes and of fetal hemoglobin, led to discuss the existence of a double population in the red blood cell series. The revealing character of diabetes insipidus, not yet reported, is emphasized.

Child, Preschool↗
PubMed1975

[Reye's syndrome: pathological study of 2 cases].

The authors report two personal cases of Reye's syndrome, one of which was studied by electron microscopy, and comment on the pathological characteristics of this disease. The hepatic lesions are most important and resemble fatty degeneration rather than simple steatosis. This notion is confirmed by data obtained by electron microscopy which revealed marked abnormalities of the cellular organites, in particular, mitochondria. The nervous involvement included mainly, oedema of the nerve sheath. These facts emphasize the importance of metabolic disturbances in the physiopathology of the disease.

Brain↗