Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:5.99.1.2 (topoisomerase)
9,166 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Topoisomerase I activity was studied by electrophoresis in agarose gel according to plasmid DNA relaxation. Sera from 62 patients with systemic scleroderma, 35 with Raynaud's syndrome, 8 with focal scleroderma, 15 with systemic lupus erythematosus, 20 with rheumatoid arthritis and 20 healthy subjects were examined. Out of 62 sera from SSD patients, anti-topoisomerase activity was found in 67.8% of cases. The test appeared positive in 79% of patients with diffuse and 63% with limited disease patterns. The mean age and disease standing were similar in the positive and negative groups. An increase of the skin count and more frequent occurrence of trophic disorders in patients with inhibition of the enzyme were recorded. 40% of the patients demonstrated the coincidence of the results with the use of the topoisomerase test and ELISA. In patients with other rheumatic diseases and in the healthy subjects, no inhibition of the enzyme was found.
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PMID:[The clinical significance of detecting the inhibition of topoisomerase I by the sera of patients with systemic scleroderma]. 133 47

The objective of this study was to determine clinical predictors of interstitial lung disease in patients with systemic sclerosis (SSc) and pulmonary involvement as defined by presence of a decreased diffusing capacity for carbon monoxide (DLCO). Forty subjects with SSc were retrospectively evaluated. Patients were categorized according to their level of DLCO (< o > or = 80% of predicted). Sensitivity of dyspnea to detect a decreased DLCO was 46.6% and specificity 90%, whereas oxygen desaturation showed a sensitivity of 71.4% and a specificity of 80%. Patients with decreased DLCO (n = 18) were not different in age (51.1 +/- 13.5 vs. 53.5 +/- 9.3 y, p = 0.5182), sex (male 13.6%, p = 0.6088), prevalence of Raynaud (86.6% vs. 85%, p = 0.6272), sicca syndrome (6.2% vs. 10.5% p = 1.0000) diffuse cutaneous involvement (94.1% vs. 83.3%, p = 0.6026) or esophageal dilatation. The duration of symptoms since diagnosis was no different. Prevalence of pulmonary hypertension assessed by Doppler echocardiography or abnormal nailfold capillaroscopic findings were identical in both populations. Patients with low DLCO had a significatly higher prevalence of anti topoisomerase antibodies. (5/9 vs. 0/11, p = 0.0081) and restrictive lung disease. Patients with low DLCO showed a significantly higher prevalence of abnormal HRCT findings suggestive of ILD (82.3% vs. 5.8%, p < or = 0.0001). We conclude that a low DLCO is a frequent finding in SSc patients, strongly associated with HRCT signs of ILD. We have not found clinical factors predictive for a low DLCO.
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PMID:[Lung involvement in systemic sclerosis]. 1805 Dec 24

In a patient with early topoisomerase antibody-positive scleroderma, antinuclear antibody positivity was fortuitously observed to predate nailfold capillaroscopy changes. Using this case as a template, the prediagnostic phase of the presumed multifactorial disease may be divided into 5 temporal phases--phase 1 representing conception and intrauterine environment, phase 2 representing the extrauterine environment predating environmental exposure; phase 3 representing the early post-environmental exposure interval with no detectable perturbed body status; phase 4 representing the post-environmental exposure interval characterized by autoantibody production and microvascular changes, and phase 5, the symptomatic clinical prediagnostic interval (Raynaud's, skin, musculoskeletal, gastrointestinal, cardiorespiratory) prompting scleroderma diagnosis. Temporal classification of prescleroderma aids in both the understanding and definition of scleroderma 'onset'. If altered nailfold capillaries and autoantibodies develop at comparable rates, and if the findings from this case--that autoantibody changes precede microvascular changes--are truly representative of the preclinical disease phase, then these findings argue that the evolution of the disease is from within the vessel outwards, rather than vice versa.
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PMID:Antitopoisomerase antibody positivity predates nailfold capillaroscopy abnormalities in scleroderma. Postulated classification of 'prescleroderma'. 2274 54

To evaluate demographic, clinical and laboratory features associated with scleroderma-specific auto-antibodies. Sera of 100 patients with systemic sclerosis (SSc) were analyzed by an indirect immunofluorescence technique with HEp-2 cells as a substrate. Specific ANA such as anti-centromere antibodies (ACA), anti-topoisomerase (TOPO), anti-RNA polymerase III (Pol 3), anti-U3-RNP (U3-RNP), anti-Th/To (Th/To) and anti-PM/Scl (PM/Scl) were detected by line immunoassay and anti-U1-RNP (U1-RNP) by ELISA. Frequency of clinical features associated with a specific antibody group was reported cumulatively over the follow-up period. Frequency of specific clinical features was compared across the two disease subtype including limited cutaneous (lcSSc) or diffuse cutaneous (dcSSc) as well as the auto-antibody groups. Ninety-four percent of patients were ANA positive with significant higher skin score, Raynauds and digital ulcer/gangrene. Anti-TOPO was detected in 71% of all patients, in 90.5% of dcSSC and in 65.8% of lcSSc. Anti-TOPO was significantly associated with dcSSc, higher skin score, digital ulcer/gangrene, pulmonary fibrosis, DLCO <70%. U1-RNP antibody was associated with lower fibrosis in lung. ACA was positive in 7% of patients and exclusively in those with lcSSc. We did not find association between gender and presence of auto-antibodies. Anti-TOPO antibody had a high prevalence in contrast to low prevalence of ACA antibody. There were no differences in clinical subtypes of the disease in patients with positive anti-TOPO and positive ACA. Differences in prevalence of auto-antibodies are suggestive of further genetic study.
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PMID:Systemic sclerosis: demographic, clinical and serological features in 100 Iranian patients. 2334 26