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Biomedical subjects

R Fauchet

Publications and source records attributed to R Fauchet.

At least 181 records · Page 10Linked to original sources
PubMed1979

[Demonstration by iron overloading study and HLA genotyping of recessive transmission of idiopathic haemochromatosis in two pseudodominant pedigrees (author's transl)].

We studied iron overloading and HLA genotype in two families with overt forms of idiopathic haemochromatosis in two successive generations. In each family the spouse of the patient with overt haemochromatosis in the first generation had clinical and laboratory signs of moderate iron overload and a HLA haplotype A3, B14 and A3, B7 respectively--which is frequently associated with the haemochromatosis gene. This specific HLA haplotype had been transmitted to the second generation patient with overt disease, which thus could be considered as having received a haemochromatosis gene from each parent. Although the finding of cases of overt disease in successive generation firstly suggests a dominant transmission the genetical analysis of these families lead to further strong argument in favour of recessive inheritance of idiopathic haemochromatosis.

Adolescent↗
PubMed1979

HLA determinants in idiopathic hemochromatosis.

HLA-A and B antigens were defined in 154 unrelated idiopathic hemochromatosis patients. The study confirmed the highly significant positive association with HLA antigens A3 (corrected P less than 10(-10)) and B14 (corrected P less than 10(-9)). HLA-DR typing showed increased frequency of the specificity DRw6, which was frequently associated with the phenotype A3, B14 and antigen B14, suggesting linkage disequilibrium. This was borne out by PLT data.

Epitopes↗
PubMed1979

HLA antigens in chronic alcoholic pancreatitis.

HLA typing was performed in 90 unrelated patients with chronic alcohol-associated pancreatitis. Compared with 523 healthy controls, an increased frequency was found for the HLA-B series antigen, B40 (Pless than 0.00041, corrected P less than 0.011). The increase was slightly more pronounced in patients without pancreatic calcifications than in those with calcifications. Factors such as alcohol consumption, age of disease onset and the presence of diabetes did not affect antigen frequency distribution.

Adult↗
PubMed1979

Role of blood transfusions and pregnancies in kidney transplantation.

A retrospective study in 71 cadaver renal transplant patients showed a significantly better 2-year graft survival rate (62%) in patients who received pretransplant transfusions or who were parous than in nontransfused patients or patients who have not been pregnant (29%). The beneficial influence of blood transfusion and of pregnancy is thus confirmed. An additive effect of blood transfuion and pregnancy is suggested by the results of this study.

Blood Transfusion↗
PubMed1979

[Relations of HLA A2, A3, B12 antigens, and A2-B12 supposed haplotype association, with latent herpes virus infection in patients with chronic renal disease (author's transl)].

Comparison of 105 patients suffering of chronical renal failure with 108 normal persons showed that, in the former group, a relation could be established between HLA A2, A3, and B12 histocompatibility antigens as well as haplotype association A2-B12, and chronic infection by herpes virus. The high number of herpes virus observed in patient group bearing the BW 35 antigen was discussed.

Adolescent↗
PubMed1979

[Genetic polymorphism of erythrocytic enzymes in the Rennes area. Frequency of adenylate kinase, esterase D, adenosine deaminase, 6-phosphogluconate dehydrogenase, glutamate-pyruvate transaminase and glyoxyalase I phenotypes].

Blood donors from the Centre Régional de Transfusion Sanguine de Rennes were investigated for the phenotypic distribution of seven enzymatic systems : adenylate kinase, adenosine deaminase, esterase D, 6-phosphogluconate dehydrogenase, glutamate-pyruvate transaminase, phosphoglucomutase, and glyoxalase I. Two unusual phenotypes were observed: phenotype 6-1 for adenosine deaminase and phenotype 3-1 for transaminase GPT. For five of these enzymes, the statistical analysis points out significant differences in one or several of the European populations described in the literature.

Adenosine Deaminase↗
PubMed1978

The gene(s) controlling the synthesis of C1 esterase inhibitor is not linked to the genes of the HLA system and is not on the 6th chromosome.

Certain genes of the complement system are carried by the 6th chromosome and are sometimes linked to particular genes of the HLA system. This study shows that in 15 patients suffering from hereditary angioneurotic oedema the gene(s) controlling the synthesis of C1 esterase inhibitor is not linked to the genes HLA-A or B and is not on the 6th chromosome.

Angioedema↗
PubMed1977

Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing.

We studied iron overloading and HLA types in 24 sibships of patients with idiopathic hemochromatosis, of which 15 had at least two subjects with overt forms. HLA types of 84 unrelated patients were also investigated. Among siblings there was a significant association (P less than 0.0001) between the presence of hemochromatosis and the possession of the same two HLA haplotypes. The fact that overt forms of hemochromatosis depend on the presence of two specific homologous chromosomes strongly supports a recessive mode of transmission for the overt disease. The haplotypic equilibrium demonstrated in the unrelated patients group is another supporting argument. The lod-score value (2.239 for theta = 0.005) in six families available for study further supports the conclusion that a hemochromatosis gene is closely linked to the HLA-A locus. HLA typing in families with hemochromatosis could provide a means of early detection of subjects at risk before appearance of any sign of iron overload.

Adult↗
PubMed1977

Idiopathic hemochromatosis and iron overload in alcoholic liver disease: differentiation by HLA phenotype.

HLA A and B antigens were determined in two groups of patients: 38 patients with idiopathic hemochromatosis (IH) and 22 patients with iron overload accompanying alcoholic liver disease (AH). As previously described, HLA A3 and HLA B14 antigens appeared more frequently in the IH group (76.3 and 28.9%, respectively) than in a control group of 204 subjects (27 and 3.4%). In the AH group the frequency of A3 (22.7%) and B14 (13.6%) was not significantly different from that observed in controls. The frequency of A3 was significantly lower in the AH group than in the IH group (P less than 0.001). On this basis a clear difference appears between the two conditions with iron overload, and genetic analysis of the results rules out the hypothesis that AH would be a heterozygous form of IH exposed by alcohol.

Adult↗
PubMed1977

[The descendants of 47, XYY subjects. Apropos of a family].

Having come across a family where the wife of a father who had 47 XYY chromosomes had 5 pregnancies, of which 3 were pathological (one case of anencephaly and spina bifida, one early abortion, one stillborn girl) the authors reviewed the literature concerning the lineage of parents with 47 XYY chromosomes. We have details of a total of 34 subjects who had this caryotype. 10 of them were sterile (30 per cent) and 10 (30 per cent) had a pathological lineage. Only 14 subjects (40 percent) gave rise to a line of normal descendants. The authors discuss the mechanism by which this caryotype (47 XYY) might be transmitted. They point out that so far only few cases have been published and conclude that it is important that many details about this subject should be published so that worthwhile genetic counselling will later be able to be carried out.

Abortion, Spontaneous↗