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Biomedical subjects

J Soulié

Publications and source records attributed to J Soulié.

At least 19 recordsLinked to original sources

[Pseudotumorous presentation of neuro-Behçet: role of the withdrawal of colchicine?].

BACKGROUND: Neurological involvement occurs in 10 to 28% of patients with Behçet's disease. CASE REPORT: We report a case of neurological pseudotumoral presentation of Behçet's in a patient with a long standing disease treated with low dose of prednisone and colchicine (1 mg/day), 2 months after withdrawal of colchicine. CONCLUSION: Neurological manifestations during Behçet disease can be secondary to direct central nervous system involvement (encephalitis, encephalomyelitis) or vascular angitis (essentially cerebral venous thrombosis and, rarely, intracranial aneurysms). Neurological pseudotumoral presentation is rarely reported.

Anti-Inflammatory Agents↗

Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly.

Four new cases of holoprosencephaly are described in fetuses exhibiting abnormal karyotypes with different distal and proximal rearrangements of the long arm of chromosome 7. Three of them showed terminal deletions of chromosome 7q, confirming the importance of the 7q36 region in holoprosencephaly. The karyotype of the fourth fetus showed an apparently balanced de novo translocation, t(7;13) (q21.2;q33), without any visible loss of the distal part of chromosome 7q. The involvement of new genes, different from the human Sonic Hedgehog gene (hShh) responsible for holoprosencephaly, or a positional effect are discussed.

Amniocentesis↗

Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and molecular analyses.

A case of 45,X/46,X,+mar mosaicism was detected in a male fetus (27 weeks' gestation) referred for karyotype analysis following the observation of a short femur at the ultrasound scan. Analysis of 12 Y-chromosome loci by fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) demonstrated that the marker chromosome is of Y origin and corresponds to an authentic isochromosome for the short arm of the Y chromosome, i(Yp). The breakpoint on this marker is in YQ11.1 close to the centromere. The present report illustrates the importance of FISH and PCR techniques as a complement to cytogenetic methods for accurate identification and characterization of chromosome rearrangements in prenatal diagnosis.

Adult↗

[Cardiac hydatidosis].

Cardiac localizations in hydatid disease are uncommon and often latent. A mass at the apex of the heart was discovered in a 42-year-old patient who presented with abnormal EKG repolarization. This mass was anechoic. Coronography demonstrated an avascular lesion with displaced coronary arteries. A hydatid cyst was suspected. No other visceral localizations of hydatid disease were detected. The patient refused surgery and was seen two years later with acute pericarditis and rapidly developing cardiac tamponade. A very large amount of pericardial fluid and a single hydatid cyst were discovered upon surgery. The cyst was aspirated and sterilized and the protruding cyst wall was resected. A severe postpericardotomy syndrome and positivation of hydatid disease serological tests occurred during the postoperative course. The patient was then given flubendazole. Prompt recovery occurred and the patient is still doing well under therapy two years later. In hydatid disease, an isolated cardiac localization is uncommon and often latent and may be revealed by complications. Prompt diagnosis should be made by echocardiography.

Adult↗

New gene assignments in the rabbit (Oryctolagus cuniculus). Comparison with other species.

Nineteen cell hybrids were obtained by fusing rabbit (Oryctolagus cuniculus, OCU) fibroblasts and a Chinese hamster cell line HGPRT-. Eleven enzymatic markers were previously investigated (Soulié and Grouchy 1982); seven of these could be assigned (LDHA, LDHB, TPI, PEPB, NP, ITP, and G6PD). Two assignments were uncertain (MDH2 and GUK). Two markers could not be assigned (MDH1 and PGD). Seven further markers were investigated and are the subject of this report. Six could be assigned: GALT to chromosome OCU1, GAPD to OCU4, GPX and ACY to OCU9, PGM1 to OCU13, and GSR to OCU19. One could not be assigned (GPI). MDH2 and GUK were previously considered uncertain. Now MDH2 was found impossible to assign and GUK was mapped on OCU15. These assignments were compared with those known in man, Cebus capucinus, Microcebus murinus, cat, and mouse. It was impossible to assign any enzymatic marker belonging to the ten linkage groups known in the rabbit. The esterase locus could not be investigated since the rabbit enzyme migrates in the same position as the hamster enzyme.

Animals↗

[Sclerosis of the intestinal lymphatic vessels].

Fibrosis of the intestinal lymphatic vessels, produced in one case by tuberculosis and, in the other, by appendicitis and peritonitis, caused blockage of the main lymphatic vessels causing, clinically, a protein-losing enteropathy similar to that noted in congenital lymphatic diseases of childhood. In the laboratory, there was noted a fall in serum protein, lipid and cholesterol. A fat absorption test was very abnormal showing a flat curve. During laparotomy, there was discovered on the small intestine, the same layout of lymph vessels, resembling a lace network, as that observed in congenital malformations. Intestinal lymphography showed considerable stasis of the opaque substance and absence of injection of the lymph vessels in the mesentery.

Chylous Ascites↗