[Mortality due to exchange transfusion in the newborn].
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Biomedical subjects
Publications and source records attributed to H Betuel.
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In Caucasian populations, rheumatoid arthritis (RA) is generally associated with serologic HLA-DR4 specificity. In order to refine this correlation in the HLA-D region, we used six different probes pertaining to this locus: DR beta, DQ beta, DQ alpha, DO beta, DP beta and DP alpha. In this step, pooled RA and control DNA were hybridized with DR beta and DQ beta probes after digestion with 12 different endonucleases. Some bands appeared specific in the RA pool. In fact, with genomic DNA from 13 unrelated typed RA patients and 12 matched or partially matched control cells, these bands were revealed to be related to DR4 and/or DR1, with DR beta and DQ beta probes hybridizing BamHI, EcoRV, PvuII and StuI digests. With other probes, no differences could be related to RA disease. The polymorphism detected by these probes was suggestive of a gradient of decreasing complexity from DR beta to DO beta through DQ beta and DP beta, which could reflect discrete functions of each subregion.
Haplotypes including HLA A, B, C, DR, and DQ were compared in a study population comprising 18 Tunisian multiplex families with diabetic children. Eighty haplotypes found in IDDM patients were compared with 148 haplotypes present in healthy family members. RFLP analysis showed that two DR subtypes were significantly more common in the diabetic haplotypes (DR4-DQw8: 82 per cent in IDDM members compared to 0 per cent in healthy members, p less than 0.001 and DR-Dw25: 56 per cent in IDDM patients compared to 16.7 per cent in healthy members, p less than 0.001) and these were in most cases found in haplotype combinations with HLA A2 B44 DR4 DRw53 and HLA A 24 B18 DR3 genes, respectively.
Thirty members of a Tunisian family with hereditary chondrocalcinosis were typed for HLA-A, B, and DR antigens: 7 affected and 23 unaffected subjects in three consecutive generations. The haplotype A1 B12 DR3 was found in all affected subjects and in 8 unaffected members. Chondrocalcinosis in this family may be associated with the haplotype A1 B12 DR3. The mode of transmission was autosomal dominant with incomplete penetrance.
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HLA profile was determined in 121 caucasoid children with rheumatoid purpura: out of those 55 developed nephropathy, of variable severity. HLA A and B were studied in all children, DR in 87. HLA BW 35 was more frequently found in total group of rheumatoid purpura (28,9%) and especially in nephropathies: 38,2% vs 20,4% in controls. However the increase is not significative even in nephropathy. On the other hand BW 35-DR 4 association is significatively higher in rheumatoid purpura with or without nephropathy than in controls. Analysis of 3 families with 2 affected sibs and 7 families with 1 affected child does not show any linkage with HLA. Determination of HLA profile does not allow to predict that the disease will be complicated by a nephropathy.