共查询到20条相似文献,搜索用时 15 毫秒
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P. J. Holt 《BMJ (Clinical research ed.)》1969,3(5669):514-518
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S. J. Hasstedt D. O. Clegg L. Ingles R. H. Ward 《American journal of human genetics》1994,55(4):738-746
Twenty-eight pedigrees were ascertained through pairs of first-degree relatives diagnosed with rheumatoid arthritis (RA). RA was confirmed in 77 pedigree members including probands; the absence of disease was verified in an additional 261 pedigree members. Pedigree members were serologically typed for HLA. We used likelihood analysis to statistically characterize the HLA-linked RA susceptibility locus. The genetic model assumed tight linkage to HLA. The analysis supported the existence of an HLA-linked RA susceptibility locus, estimated the susceptibility allele frequency as 2.16%, and estimated the lifetime penetrance as 41% in male homozygotes and as 48% in female homozygotes. Inheritance was recessive in males and was nearly recessive in females. In addition, the analysis attributed 78% of the variance within genotypes to genetic or environmental effects shared by siblings. The genetic model inferred in this analysis is consistent with previous association, linkage, and familial aggregation studies of RA. The inferred HLA-linked RA susceptibility locus accounts for approximately one-half of familial RA, although it accounts for only approximately one-fifth of the RA in the population. Although other genes may account for the remaining familial RA, a large portion of RA cases may occur sporadically. 相似文献
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J Haapasaari R V Essen A Kahanp?? A A Kostiala K Holmberg J Ahlqvist 《BMJ (Clinical research ed.)》1982,285(6346):923-924
Petriellidium boydii is often isolated from maduromycosis but has recently been associated with arthritis. A previously healthy 6-year-old boy developed chronic purulent arthritis of the knee after a bicycle accident. Culture of aspirate grew no pathogens and antibiotic treatment had no effect. Culture of synovial fluid grew P boydii, which responded initially to amphotericin but reappeared after six months. Subsequent treatment with miconazole was stopped after development of haematuria. The fungus was sensitive to ketoconazole, and treatment with this drug cured the infection. With the introduction of ketoconazole it is of practical importance to recognise fungal infections. 相似文献
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D J Ward 《BMJ (Clinical research ed.)》1971,3(5768):251-252
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B McConkey R S Amos S Durham P J Forster S Hubball L Walsh 《BMJ (Clinical research ed.)》1980,280(6212):442-444
Seventy-four patients with rheumatoid arthritis were treated with sulphasalazine. There was a significant improvement in clinical score, with substantial falls in serum C-reactive protein concentrations and erythrocyte sedimentation rate four weeks after starting the drug. Improvement was maintained in the 38 patients who remained on the durg for one year. The mean Rose-Waaler titre did not change. There was little difference between the results in seropositive and seronegative patients. The commonest adverse effect was dyspepsia, but five patients developed a megaloblastic anaemia and one patient neutropenia; all made a complete recovery. The results suggest that the drug has a disease-modifying action not attributable to its "salicylate" content. The mode of action might be by an antibacterial effect on gut flora. 相似文献
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F E Graham-Bonnalie 《BMJ (Clinical research ed.)》1971,2(5756):277-278
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《BMJ (Clinical research ed.)》1967,2(5553):651-652
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《BMJ (Clinical research ed.)》1973,3(5874):247-248
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A H Lynn C K Kwoh C M Venglish C E Aston A Chakravarti 《American journal of human genetics》1995,57(1):150-159
We conducted family studies and segregation analyses of rheumatoid arthritis (RA) that were based on consecutive patients with RA ascertained without regard to family history or known risk factors. First-degree relatives from 135 simplex and 30 multiplex families were included in the analyses. A highly penetrant recessive major gene, with a mutant allele frequency of .005, was identified as the most parsimonious genetic risk factor. Significant evidence for heterogeneity in risk for RA was observed for proband gender but not for proband age at onset. Kaplan-Meier risk analysis demonstrated significant evidence for differences in the distribution of risk among first-degree relatives. These analyses demonstrated that both proband gender and age at onset are important risk factors but that proband gender appears to be the more important determinant of risk, with relatives of male probands having the greatest cumulative risk for RA. In addition, log-linear modeling identified proband gender, familiality (multiplex or simplex), and an interaction term between these two variables as being adequate to define the distribution of risk in families. The pattern of risk for RA among susceptible individuals and its inheritance is thus heterogeneous. For future genetic analyses, families with an excess of affected males having a young age at onset may be the most informative in identifying the putative recessive gene and its modifiers. 相似文献
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Animal models of rheumatoid arthritis. 总被引:5,自引:0,他引:5
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V Wright 《BMJ (Clinical research ed.)》1984,289(6449):858-859
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