Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042384 (vasculitis)
 20,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Report of two cases of syphilitic uveitis which presented vasculitis, papillitis, cystoid macular edema and large disturbance of the pigment epithelium. The superior value of the FTA-Abs test and of the cerebrospinal fluid analysis in the diagnosis of the disease is discussed. Treatment with high doses of Penicillin G for 10 to 15 days is recommended.
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PMID:[Syphilitic uveitis. Apropos of 2 cases]. 213 38

A healthy-appearing male patient presented with signs of unilateral fibrinous iritis, necrotizing retinitis, retinal vasculitis, and vitritis, suggestive of a herpesvirus retinitis or acute retinal necrosis syndrome (ARN). The patient, an active homosexual, withheld the details of his sexual history, portraying himself as exclusively heterosexual. With the exception of a positive VDRL and FTA-ABS, the workup was negative. Examination of the cerebrospinal fluid confirmed the presence of neurosyphilis. The patient was successfully treated with intravenous penicillin, which resulted in a complete visual recovery. Syphilitic retinitis must be considered in evaluating patients with necrotizing retinitis.
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PMID:Syphilitic retinitis. A cause of necrotizing retinitis. 653 16

Analysis of serum from a patient with cutaneous leukocytoclastic vasculitis showed a mixed cryoglobulin with a monoclonal IgM kappa-antiglobulin component (6.5 mg/ml), strong rheumatoid factor activity (latex titre 1/5000), and positive serological tests for syphilis (fluorescent treponemal antibody-absorbed and Treponema pallidum haemagglutination assay). After removal of antiglobulin activity by immunoabsorption with heat-aggregated gammaglobulin all serological test results for treponemal infection became negative. Serological tests for syphilis and rheumatoid factor on the supernatant from whole serum (minus cryoglobulin) remained positive though at a lower titre (latex 1/1250). Cryoglobulin isolated from whole serum retained rheumatoid and TPHA reactivity but was negative in the FTA-ABS test. The IgM and IgG cryoglobulin components purified by gel filtration on Sepharose showed no antitreponemal reactivity even when tested individually. Reducing the concentration of cryoglobulin to 1.5 mg/ml by plasma exchange converted the test results for syphilis to doubtful-positive or negative. These results indicated that high concentrations of antiglobulin activity may be associated with falsely positive specific antitreponemal test results and that this phenomenon depends on the concentration of cryoglobulin in the test sample.
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PMID:Essential mixed cryoglobulinaemia with false-positive serological tests for syphilis. 682 6

The familial transthyretin (TTR) amyloidosis (FTA) demonstrates variable penetrance of clinical features associated with mutations in the plasma thyroid hormone-binding protein TTR gene. The purpose of this study was to assess the ocular features, to analyze vitreous and serum vascular endothelial growth factor (VEGF) levels, and to identify the genetic defect in a Chinese family with TTR FTA. The pedigree of interest was a three-generation family with eleven members. The primary ocular signs were vitreous opacities, beginning from the third or fourth decade, accompanied by retinal vasculitis, hemorrhages, and widespread pinpoint deposits in the peripheral retina. Two patients underwent vitrectomy with marked improvement of visual acuity postoperatively. Vitreous and serum samples for VEGF were analyzed with an enzyme-linked immunosorbent assay (ELISA). Forty-eight healthy adult volunteers were enrolled as a control group for the analysis of serum VEGF. Eight subjects who underwent vitrectomy for a macular epiretinal membrane or macular hole were enrolled as control for the analysis of vitreous VEGF. Both serum and vitreous VEGF levels of patients were raised compared to that of controls. Venous blood was collected from family members and the genomic DNA was extracted. All exons and exon-intron boundaries of the TTR gene were sequenced. A previously-described pathogenic transversion in exon 2 (c.G106C, p.Ala36Pro) was identified. Within this family eight individuals were confirmed as affected. In conclusion, a Chinese family with TTR Ala36Pro associated FTA is characterized by early ocular involvement. Widespread pinpoint lesions indicate RPE lesions caused by TTR deposition. FTA is associated with increased VEGF levels, both in serum and vitreous.
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PMID:Transthyretin Ala36Pro mutation in a Chinese pedigree of familial transthyretin amyloidosis with elevated vitreous and serum vascular endothelial growth factor. 2343 77