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Biomedical subjects

T Bardin

Publications and source records attributed to T Bardin.

135 records · Page 8Linked to original sources
PubMedDate not supplied

European genetic study on rheumatoid arthritis: is there a linkage of the interleukin-1 (IL-1), IL-10 or IL-4 genes to RA?

UNLABELLED: The genetic predisposition for rheumatoid arthritis (RA) is only partly explained by the HLA locus and most genetic factors involved in the susceptibility (and/or severity) of the disease await further identification. The first European genome scan in RA families provided suggestive evidence for linkage with a region (3.1/3q13) on chromosome 3, but many other potential RA susceptibility genes have yet to be analysed. AIMS: To perform a linkage analysis with microsatellite markers located in the vicinity of the interleukin-1 (IL-1) gene superfamily, the IL-10 gene and the IL-4 gene cluster which might be considered putative candidate loci for RA. METHODS: 107 Caucasoid European RA sibpairs from 90 nuclear families were genotyped for markers flanking the genes for the IL-1 superfamily, IL-10 and the IL-4 gene cluster. Linkage analysis based on the identity by descent (IBD) in affected siblings was analysed with the program SIBPALNA. Affected sibpairs were stratified according to the identity by state (IBS) for three markers in the HLA region (DRB1 oligotyping, D6S276 and TNFa microsatellites) and to the presence/absence of erosive disease on X-ray examination. RESULTS: Analysis of the whole family set showed an excess of allele sharing for markers of the IL-1 gene cluster (IBD 60%; P = 0.012) but not for IL-10 or IL-4. After stratification, the evidence of linkage to IL-1 was restricted to HLA concordant sibpairs (n = 32; IBD 70%; P = 0.006). Some evidence of linkage to IL-10 was also observed in HLA concordant sibpairs (IBD 66%; P = 0.03) and in sibpairs with erosive disease (n = 61; IBD 62%; P = 0.02). CONCLUSIONS: We found suggestive evidence of linkage of RA to the IL-1 locus. The increased linkage to IL-1 and IL-10 in HLA-identical sibs suggests a possible interaction between these cytokines and the HLA loci. Moreover IL-10 could interact with HLA factors in predisposing to erosive disease. These results need to be tested in additional families for consistency and replication.

Arthritis, Rheumatoid↗
PubMedDate not supplied

Hereditary chondrocalcinosis in a Tunisian family.

A clinical and radiological survey of 77 members of a Tunisian family with hereditary chondrocalcinosis was performed. Articular chondrocalcinosis was documented by X-rays in 7 living members of 3 generations. No associated or secondary forms of the disease were found. Clinical features of the disease appeared early in life and radiologic involvement was extensive. The mode of inheritance appeared to be autosomal dominant with incomplete penetrance. Electron microscopy study of synovium and cartilage biopsies from one patient demonstrated calcium pyrophosphate dihydrate crystals. HLA typing revealed that all affected subjects bore the haplotype A1 B12 DR3.

Adolescent↗
PubMedDate not supplied

HLA-antigens in a Tunisian familial chondrocalcinosis.

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.

Chondrocalcinosis↗
PubMedDate not supplied

The arthropathy of chronic haemodialysis.

The occurrence of rheumatic disorders in patients treated by long-term haemodialysis (HD) has been emphasized for several years. Complications include carpal tunnel syndrome and various arthropathies. Together with renal osteodystrophy, they are the main limiting factors for the quality of long-term survivals. The pathophysiology is still poorly understood but apatite crystal deposition, aluminum or iron overload and the articular deposition of a new type of amyloid may play a part. We will attempt here to review the available data on these rheumatic disorders in dialysis patients.

Amyloidosis↗
PubMedDate not supplied

[Destructive spondylarthropathy with amyloid deposits in 3 patients on chronic hemodialysis].

Destructive spondyloarthropathy is a recently described complication of chronic hemodialysis. Three patients presenting spondyloarthropathy with destructive discovertebral lesions of the cervical or lumbar sections of the spine underwent surgery due to neurologic complications: persistent radiculalgia (two cases), regressive tetraparesis (one case). Discal lesions were associated with dislocation of the posterior intervertebral articulations and slipping of vertebrae. These patients had been receiving chronic hemodialysis for more than ten years; two presented hyperparathyroidism and blood aluminum was markedly increased in all cases. Two patients had undergone surgery for bilateral carpal tunnel syndrome. Anatomopathological examination of surgical specimens demonstrated the presence of amyloid deposits in the intervertebral disc. This suggests that amyloidosis, which is frequently seen with carpal tunnel syndrome in patients receiving prolonged hemodialysis, also plays a role in the development of spondyloarthropathy.

Amyloidosis↗
PubMedDate not supplied

[Aortic rheumatoid insufficiency. 3 cases and review of the literature].

The authors report on three cases of rheumatoid aortic valve insufficiency. The three patients had classic sero-positive rheumatoid arthritis. In one patient aortic valve insufficiency and pericarditis occurred simultaneously; aortic valve insufficiency appeared in two patients less than two years and in the third patient 17 years after the beginning of arthritis. In the first two cases, the aortic regurgitation evaluated by echocardiography and angiography was not severe enough to require valvular replacement. In the third patient, rheumatoid granuloma of the aortic valve caused fatal aortic insufficiency.

Aged↗
PubMedDate not supplied

Secretion of parathyroid hormone-related peptide in patients with multiple myeloma.

Stimulation of bone resorption by local factors, the cytokines, is key to the development of hypercalcemia in multiple myeloma patients. Parathyroid hormone-related peptide, the systemic factor found in humoral hypercalcemia, has rarely been incriminated in myeloma. We report a case of myeloma with hypercalcemia and elevated serum level of parathyroid hormone-related peptide. Bisphosphonate therapy was rapidly effective in correcting serum calcium levels despite persistent high levels of the peptide. Seven other cases of myeloma with hypercalcemia and high serum parathyroid hormone-related peptide levels have been reported. Expression by myeloma plasmocytes of the messenger RNA for this peptide has also been demonstrated. These data suggest that parathyroid hormone-related peptide may contribute to the development of hypercalcemia in some myeloma patients.

Antineoplastic Agents↗