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Biomedical subjects

J Berthelot

Publications and source records attributed to J Berthelot.

30 records · Page 2Linked to original sources
PubMed1975

[Prenatal diagnosis of genetic diseases. Results of 57 early amniocenteses].

The authors report the results of anmiocenteses carried out early in 57 cases, in order to detect hereditary disorders in high risk pregnancies. They emphasize the necessity of prior genetic consultation and obstetric examination. Among the 57 cases, 53 had the examination carried out in order to seek a chromosome anomaly. The techniques of removal and culture are described. One pregnancy was interrupted, the foetus had a chromosome abnormality. The psychological aspect and the necessity of close cooperation between gynecologists and geneticians are discussed.

Adult↗
PubMedDate not supplied

[Report of a case of Gaucher's disease in adult].

The authors report a case of Gaucher's disease in an adult. This is a rare disease due to the accumulation of a glucoceramide in the reticulo-endothelial cells and may remain for long clinically symptomless, as in this case. The diagnosis suggested by the biological disturbance, viz. moderate thrombopenia, hypergammaglobulinemia, increase in SGPT, was conformed by the presence of Gaucher's cells in the liver and in the bone marrow, and by the existence of an intraleukocytic glucosidase deficiency. The authors recall the clinical forms of this disease, and recent clinical trials.

Adult↗