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Biomedical subjects

J Rullier

Publications and source records attributed to J Rullier.

7 recordsLinked to original sources

[Congenital nephrotic syndrome associated with congenital toxoplasmosis].

The authors report the case of a 1 month-old infant presenting with congenital toxoplasmosis associated with nephrotic syndrome and microscopic hematuria. Percutaneous renal biopsy showed a diffuse mild increase in mesangial cells and matrix, but immunofluorescence was negative. Electron microscopy revealed the presence of extensive fusion of foot processes. A review of the nephropathy of congenital toxoplasmosis is presented. Outcome seems to be favorable under steroid therapy. The pathophysiology of nephropathy is discussed, as well as the relationships or coincidence between congenital toxoplasmosis and nephrotic syndrome.

Female↗

[Partial trisomy for the distal part of the short arm of chromosome 11 due to paternal translocations 11/5].

A girl with partial trisomy for the short arm of chromosome 11 resulting from an unbalanced translocation 46,XX,der 5, t(5,11) (p 15,p14) pat is described. The clinical findings are compared with those of other patients with partial trisomy 11p. The translocation in the balanced form was present in the fater, the brother, and the grandmother of the proposita.

Abnormalities, Multiple↗

[Partial trisomy 11 revealed by labeling technics].

A standard karyotype was normal in 1968, when performed in a girl with multiple malformations. The same investigation was performed 7 years later with labelling techniques. It showed a partial duplication of the short arm of chromosome no. 11. This emphasizes the interest of a second karyotype in clinically suggestive cases, if the first has been performed before labelling techniques were used.

Abnormalities, Multiple↗