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)

The diagnostic and prognostic value of anti-Scl-70 autoantibodies in systemic scleroderma and other connective tissue diseases was investigated. A clinical and immunological study consisting of a search for anti-Scl-70 autoantibodies by immunodiffusion and immunoblot and a search for anti-centromere autoantibodies and antinuclear factors by indirect immunofluorescence was conducted in 57 cases of systemic scleroderma, 45 cases of CREST syndrome, 41 patients with suspected systemic scleroderma but who did not respond to the American rheumatism association (ARA) criteria, 35 cases of systemic lupus erythematosus, 8 cases of polymyositis, 40 cases of Raynaud's phenomenon and 48 controls. Anti-Scl-70 autoantibodies were found by immunodiffusion in 40 and by immunoblot in 45 cases of scleroderma with lesions proximal to the metacarpo-phalangeal joint (a major ARA criterion) and in 3 patients with suspected scleroderma but only one minor criterion: sclerodactyly. In systemic scleroderma with proximal lesions, the anti-Scl-70 autoantibody has a sensitivity of 0.85 and a specificity of 0.99. Anti-centromere autoantibodies were present in 39 cases of complete or incomplete CREST syndrome, 3 cases of Raynaud's phenomenon probably evolving towards a connective tissue disease and 1 case of systemic scleroderma with proximal lesions. The anti-Scl-70 and anti-centromere autoantibodies seem unable to coexist in the same patient and appear to be markers of two forms of scleroderma with different courses and prognoses. The Scl-70 antigen, which is the target of the anti-Scl-70 antibody, has been identified as topoisomerase 1, and a functional abnormality of this enzyme might contribute to some of the chromosomal abnormalities described in scleroderma.
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PMID:[Anti-Scl-70 and anti-centromere autoantibodies. Biological markers of 2 forms of systemic scleroderma]. 252 7

A 88-year-old woman was admitted with appetite loss and dehydration in April 1999. She first noticed finger swelling in May 1996 and systemic sclerosis (SSc) was diagnosed in February 1997 on the basis of a clinical picture of low-grade fever, diffuse skin thickening, Raynaud's phenomenon, and pulmonary fibrosis. Retrospectively pulmonary fibrosis could have been identified on chest X ray film in September 1995. Although her appetite loss and dehydration were improved by hydration, pleural effusion continued. After detailed examinations, anti-topoisomerase 1 (Scl-70) antibody, anti-Sm antibody, and an anti-double-stranded DNA antibody (dsDNA) were found in her serum. However, the other antibodies to anti-SS-A, SS-B, Jo-1, and RNP were not detected. These results suggest that this elderly case was a very late onset overlap syndrome of systemic lupus erythematosus (SLE) and SSc. Thus, the pleural effusion in this case may have been caused by SLE-associated pleuritis. Although the late onset elderly cases with overlap syndrome are very rare, SLE, SSc, and their combination can be found in aged patients over 80 years old. SLE and SSc should be carefully considered for the differential diagnosis of pleural effusion and skin thickening even in elderly patients.
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PMID:[A case of very late onset overlap syndrome of systemic sclerosis and systemic lupus erythematosus]. 1073 26

A 60-year-old woman with systemic sclerosis (SSc) was admitted because of severe anemia and Raynaud's phenomenon. Her anemia was associated with a low serum haptoglobin level and positive results of direct Coomb's tests, which indicated the presence of autoimmune hemolysis. Other laboratory investigations revealed positive anti-nuclear antibodies, anti-topoisomerase antibody, cold agglutinins, as well as low serum levels of IgM, C3, C4 and CH50. Bone marrow aspiration showed discrete hyperplasia of the erythropoietic system. She was diagnosed as low-titer cold agglutinin disease rousing secondarily to SSc. The anemia was alleviated with the oral administration of prednisolone. This case emphasized, in terms of pathogenesis, the close association between systemic rheumatic diseases and hematological abnormalities evoked by autoimmunity.
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PMID:Low-titer cold agglutinin disease with systemic sclerosis. 1500 58

The term "systemic sclerosis sine scleroderma" (ssSSc) has been used to designate a rare progressive systemic sclerosis of visceral organs without skin manifestations. A variety of visceral organs, including the gastrointestinal tract, lung, heart, and kidney, can be involved. We describe a case of 59-year-old female patient with both Wolff-Parkinson-White (WPW) syndrome and ssSSc. She was diagnosed as having ssSSc with Raynaud's phenomenon, anti-nuclear antibody (ANA) and anti-topoisomerase antibody positivity, interstitial pulmonary infiltrates, suspected pulmonary hypertension, subclinical oesophageal dysmotility but no skin thickening. She had a history of paroxysmal tachycardia together with Raynaud's phenomenon and exercise-induced dyspnoea. Electrophysiological study confirmed WPW syndrome with left posterior bypass tract. This case highlights cardiac arrhythmia caused by WPW syndrome as a clinical manifestation of the heart in ssSSc.
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PMID:Systemic sclerosis sine scleroderma associated with Wolff-Parkinson-White syndrome. 1745 39