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Biomedical subjects

S Bentolila

Publications and source records attributed to S Bentolila.

22 records · Page 2Linked to original sources
PubMed1995

[Association of dysfibrinogenemia and thrombosis. Apropos of a family (Fibrinogen Melun) and review of the literature].

We report a family with history of deep and superficial venous thrombosis. A large number of siblings had numerous episodes of deep venous thrombosis and less frequently arterial thrombosis. The most frequent site was lower limb. Dysfibrinogenaemia seems to play an essential role in predisposition to thromboembolism in this family, other known aetiologies having been excluded. Genetic studies of fibrinogen gene show a point mutation in the gamma chain (364 Asp-Val), the site close to gamma 363 one of the sites involved in fibrin monomers polymerisation, although fibrinogen polymerisation is normal. Review of the 250 families with dysfibrinogenaemia published up to now shows that the prevalence of dysfibrinogenaemia in patients with a history of thromboembolism is about 0.7%, and that thrombosis is observed in about 10% of cases of dysfibrinogenaemia. Abortion risk seems to be increased in women with dysfibrinogenaemia. In contrast thromboembolism risk does not seem to be higher during pregnancy, but may be increased after delivery. The main mechanisms which have been proposed to explain thromboembolism observed in dysfibrinogenaemia are: resistance of the clot to thrombolysis; defective thrombin binding; enhanced platelet aggregation; increased blood viscosity, alteration of clot architecture. This family study together with the previously reported cases supports the hypothesis that there is a link between thrombosis and dysfibrinogenaemia in a small number of patients.

Female↗
PubMed1994

[Cryoglobulinemia and hepatitis C virus].

Cryoglobulins are immunoglobulins that precipitate at low temperatures. They are easy to characterize by using sensitive techniques such as immunofixation and immunoblotting. Recently, hepatitis C virus (HCV) has been found to be associated with essential mixed cryoglobulinemia. The different frequencies reported might be explained by heterogeneity in patient subpopulations and advances in serologic tests. In addition to commercial kits to detect HCV antibodies, polymerase chain reaction (PCR) of HCV RNA can now be applied to serum or cryoprecipitates. The pathogenic role of hepatitis C virus is well known, but the precise mechanism remains to be determined.

Cryoglobulinemia↗
PubMedDate not supplied

Mitochondrial gene organization and expression in petunia male fertile and sterile plants.

In cytoplasmic male-sterile Petunia lines, NADH dehydrogenase subunit 3 (nad3) and ribosomal protein S12 (rps12) are cotranscribed with the chimeric gene pcf and located in the region of the mitochondrial genome associated with cytoplasmic male sterility (CMS) in Petunia. In fertile Petunia line 3704, the genes for nad3 and rps12 are cotranscribed with an unidentified open reading frame (orf143). In the homologous region of fertile line 3699, there is an ORF that lacks a genomic DNA-encoded stop codon; instead an RNA editing event creates a stop codon, resulting in an ORF of 161 codons. While expressed sequences homologous to this open reading frame can be detected in sterile lines, a contiguous orf143/orf161 gene does not exist in the CMS-encoding mitochondrial genome. Transcription at the CMS-associated pcf locus and the fertile orf143/nad3/rps12 locus is complex, with multiple 5' and 3' termini. The presence of the nuclear fertility restorer gene affects the abundance of a transcript class with 5' termini--121 nucleotides before the pcf start codon, and greatly reduces the abundance of a pcf gene product with apparent molecular mass of 25 kDa which is present in both vegetative and reproductive tissues of CMS plants. In addition to the 25 kDa protein product, small amounts of precursor and processed pcf products with higher molecular mass have been detected; their possible role in the CMS phenotype is unknown. Current hypotheses for the mechanism of action of CMS-associated and fertility restorer genes are discussed.

Amino Acid Sequence↗