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Biomedical subjects

R Fauchet

Publications and source records attributed to R Fauchet.

At least 163 records · Page 9Linked to original sources
PubMed1981

[Disseminated sclerosis. Possible correlation between clinical forms and HLA groups (author's transl)].

The study concerns HLA typing of 261 patients with disseminated sclerosis. All patients were grouped for loci A and B. In addition, 94 were typed in HLA DR and 132 in mixed lymphocytic culture (DW2 only). Analysis of tissue group distribution among patients compared with a control population showed not only over-representation of the B7, DW2, A3 B7 and B7 DR2 types (as previously stressed by several workers), but also of A9 and of B8 DR3 and A1 B8 DR3 associations. Moreover, it would seem that there are two distinct clinical forms of disseminated sclerosis, each form being characterized by a specific antigenic HLA association. Side by side with the conventional and most common "remittent" form, which is partly responsive to treatment, has a relatively favourable course and is frequently associated with B7 and DW2/DR2, there appears to emerge around DR3, B8 DR3 and A1 B8 DR3 a rarer, "progressive" form of rapidly increasing severity and resistant to immuno-suppressants. This, however, is a mere hypothesis which needs to be confirmed by further studies on a larger scale.

Female↗
PubMed1981

HLA-A, -B, and -DR specificities on human monocytes.

Monocyte-enriched cell suspensions obtained by a plate adherence method from 57 blood donors were typed by microcytotoxicity for HLA-A, -B and -DR determinants. Parallel assays were performed with autologous unfractionated lymphocytes for HLA-A and -B determinants and with autologous B-lymphocytes for HLA-DR determinants. Correlation coefficients (r values) were calculated for nine HLA-A specificities (r greater than 0.79), 16 HLA-B specificities (r greater than 0.56) and seven HLA-DR specificities (r greater than 0.81). For certain HLA-A and -B specificities detection was less readily achieved on monocytes than on autologous lymphocytes. Extra reactions were observed in some instances. With sera defining HLA-DR specificities, monocytes and B-cells showed reactivity of almost identical strength and reliability.

Antigens, Surface↗
PubMed1981

[Megaspondylodysplasia : orthopaedic management (author's transl)].

The authors describe three cases of megspondylodysplasia, an original syndrome first described in 1972. This congenital lesion is associated with severe kyphoscoliosis, multiple hemimelic enchondromatoses of the spine, hands, feet, knees and hips and hypertrophy of half of the body. In the discussion, differentiation between this syndrome and other diseases such as Ollier's or Mafucci's disease is described. Surgical correction on such a severely deformed spine is dangerous to the spinal cord.

Adolescent↗
PubMed1980

[Graves' disease. Predominance of the DRw3 antigen (author's transl)].

HLA-A, B, C antigens were studied in 86 white european patients with Graves' disease, using a lymphocyte toxicity microtechnique and the results were compared with those obtained in 356 healthy subjects. HLA-D (DR) antigens were studied by the same technique after prolonged incubation and the results were compared with those of 100 healthy controls. The incidence of DRw3 was 51.16% in the patients as against 20% in controls, the difference being highly significant (pc--PC less than 0.0003) - corrected p = p multiplied by the number of antigens tested. There was also a significant (pc less than 0.001) increase in HLA-BB: 44.19% against 22.47%, and in HLA-A1: 40.7% against 28.93% (pc less than 0.03). Conversely, there was a decrease in the incidence of HLA-B12: 12.79% against 31.74% (pc less than 0.01). B8 was found to be associated with DRw3 in 37 of the 86 patients, but in only 13 of the 100 controls (p less than 0.00003). There was no correlation between the HLA antigens and the clinical features of the disease (presence or absence of goitre and exophthalmos, severity of clinical or biological symptoms). These results are in agreement with those of other studies reporting an increase in HLA-B8. The increase in HLA-A1 is probably due to an accentuation of the unbalanced linkage with B8. The major finding was the predominance of the DRw3 antigen, also found by other authors working with a mixed lymphocyte culture. It seems therefore possible that the putative Graves' disease susceptibility antigen is present on the sixth chromosome, near to HLA-D (DR).

Adolescent↗
PubMed1980

Occurrence and specificity of anti-B lymphocyte antibodies in renal allograft recipients.

Anti-HLA-A,B and anti-B lymphocyte antibodies were screened as part of a prospective alloimmunity monitoring study in 29 renal allograft recipients using a standard microlymphocytotoxicity test. Warm-reactive and/or cold-reactive lymphocytotoxins were directed against a panel of B lymphocytes, the donor's B lymphocytes, and the recipient's own B lymphocytes. A small proportion of patients had pretransplant antibodies, whereas about one-half of the patients had post-transplant antibodies. One-year allograft survival rates were lower among the patients with warm- and cold-reactive sera than among those with nonreactive sera or pure B cold-reactive sera. The sera of 20 patients were tested against donor B lymphocytes. The presence of donor-specific antibodies correlated closely enough with graft loss to be of predictive value. Autoantibodies appeared to have an enhancing effect in this study.

Antibody Specificity↗
PubMed1980

HLA-DR4 antigen and IgA nephropathy.

HLA-A, B and DR antigens were tested in 45 unrelated patients with IgA nephropathy (Berger's disease). A significant association with HLA-DR4 was noted. An unusual finding was a secondary association with the A2-B12 antigen combination.

Histocompatibility Antigens Class II↗
PubMed1980

HLA and Graves' disease: an association with HLA-DRw3.

HLA-A, -B, and -C antigens were tested by a standard lymphocyte microcytotoxicity technique in 86 Caucasians patients from western France with Graves' disease, and the data were compared with findings in 356 healthy controls. For HLA-DR antigen typing performed by lymphocyte microcytotoxicity testing using a long incubation time, the data were compared to findings in 100 healthy controls. An increase was found in the frequency of HLA-DRw3 [51.16% of patients vs. 20% of controls, corrected P (Pc) < 0.0003; relative risk (rr), 4.19) associated with an increased frequency of HLA-B8 (44.19% of patients vs. 22.47% of controls; Pc < 0.001; rr, 2.73) and HLA-A1 (40.7% of patients vs. 28.93% of controls; Pc < 0.03; rr, 1.71). In contrast, a diminished frequency was found for HLA-B12 (12.79% vs. 31.74%; Pc < 0.01). The antigen combination B8-DRw3 was noted in 37 of the 86 Graves' disease patients compared with 13 of 100 controls (Pc < 0.00003). No association was observed between HLA antigens and the different manifestations of the disease, such as the presence of goiter and/or exophthalmos, or the severity of clinical or biochemical signs. The present findings confirm the reported increase in the frequency of HLA-B8 in patients with Graves' disease. The most striking finding was the prevalence of HLA-DRw3, which, together with recent reports on lymphocyte-defined D locus determinants pointing to an increase frequency of HLA-Dw3, suggests that the gene or genes conferring susceptibility to Graves' disease may be located close to the HLA-D (DR) region of the sixth chromosome.

Adolescent↗
PubMed1980

Idiopathic hemochromatosis: a study of biochemical expression in 247 heterozygous members of 63 families: evidence for a single major HLA-linked gene.

The hypothesis has been advanced that the two genes on chromosome 6 determining idiopathic hemochromatosis are not identical alleles and therefore that the disease is not recessively inherited, but rather that two different genes are involved. A study of 63 families points to: (a) the rarity with which a single hemochromatosis gene finds biochemical expression (in only 1 of 5 cases), as revealed through determinations of serum iron, serum ferritin and the desferrioxamine test; (b) no difference in HLA-antigen marking between genes with and those without biochemical expression: (c) no difference other than that produced by chance in the biochemical expression of the two genes in families; and (d) the finding in one highly informative family of identical expression of the two genes. It is concluded that idiopathic hemochromatosis is determined by two homologous alleles in accordance with the classical mode of recessive inheritance.

Adolescent↗
PubMed1979

Genetic polymorphism of alpha-L-fucosidase in Brittany (France).

The authors studied the phenotypic distribution of alpha-L-fucosidase in a random sample of the population of the area of Rennes (France). The frequencies of Fu1 (0.64) and Fu2 (0.36) genes are significantly different from the frequencies observed in New York whites and blacks.

Adolescent↗
PubMed1979

Serum ferritin as a possible marker of the hemochromatosis allele.

To determine whether a correlation exists between the biochemical expression of hemochromatosis and the HLA genotype, we studied 174 family members of 32 persons with the disease. Persons who shared both HLA haplotypes with the proband (and presumably having two hemochromatosis alleles) differed significantly from those who shared only one haplotype (and presumably having one hemochromatosis allele) in terms of serum iron (P less than 0.001 for both sexes), unsaturated iron-binding capacity (P less than 0.01 for female and P less than 0.0001 for male subjects) and serum ferritin (P less than 0.0001 for female and P less than 0.00001 for male subjects). The only significant difference between relatives having one hemochromatosis allele and age and sex-matched controls was related to serum ferritin values in male subjects (P less than 0.05, despite considerable overlap). In our hands, serum ferritin was the best indicator of disordered iron metabolism and was elevated among most homozygous but among few heterozygous family members.

Adolescent↗