Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0003864 (arthritis)
 69,039 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The assessment of functional health in chronic illnesses such as HIV/AIDS and rheumatoid arthritis is central to the measurement of health-related quality of life. The purpose of this article is to report the testing and comparison of the measurement structure of the Health Assessment Questionnaire-Disability Index (HAQ-DI), a measure of functional health, in 917 persons living with HIV/AIDS and 901 individuals with rheumatoid arthritis. The samples come from data collected as part of the Arthritis, Rheumatism, and Aging Medical Information System (ARAMIS) and AIDS Time-Oriented Health Outcome Study (ATHOS) projects. Using confirmatory factor analysis (CFA), the hypothesized structure represented by a general factor (functional health) and eight measured items was tested separately. Based on the fit indexes, the model fit the ATHOS data (chi2 = 36.933, p < .0117; CFI = 1.000; SRMR = 0.025). After correlating the error terms for two of the measured items, the model also fit the ARAMIS data (chi2 = 302.34, p = .0000; CFI = 0.937; SRMR = 0.041). This analysis provides further support of the construct validity of the HAQ-DI for persons living with HIV/AIDS or rheumatoid arthritis.
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PMID:Confirmation of the validity of the HAQ-DI in two populations living with chronic illnesses. 1857 8

Factor I (FI) is the major complement inhibitor that degrades activated complement components C3b and C4b in the presence of specific cofactors. Complete FI deficiency results in secondary complement deficiency due to uncontrolled spontaneous alternative pathway activation. In this study we describe two unrelated patients with complete FI deficiency and undetectable alternative complement pathway activity. Both patients had experienced recurrent infections and arthralgia/arthritis. In one patient, analysis of genomic DNA revealed deletion of two adenine nucleotides in exon 2 of the CFI gene (c.133-134delAA), causing a frame shift and premature STOP codon/termination in the FIMAC (FI-membrane attack complex) domain (p.K45SfsX11). The other patient carried an A>T substitution in exon 6 (c.866A>T) encoding the LDLr2 (low density lipoprotein receptor) domain (p.D289V), resulting in an aspartic acid to valine change. Both patients were homozygous for the mutations while their healthy parents were heterozygous carriers. The mutations were introduced into recombinant FI, causing lack of FI expression and secretion upon transient transfection. Mutation p.K45SfsX11 theoretically allows expression of a 55 amino acid fragment of FI that lacks the serine protease domain, preventing proteolytic activity. In contrast, aspartic acid D289 is crucial for folding of FI. This report describes the molecular and functional consequences of two novel mutations of FI, providing a unique insight into the pathogenesis of complete FI deficiency in these patients.
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PMID:Molecular characterization of two novel cases of complete complement inhibitor Factor I deficiency. 2131 65