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)

Eighty-three patients with primary biliary cirrhosis were investigated to determine the prevalence of rheumatic disorders. 14 had scleroderma, which tended to be mild but in several patients produced severe systemic manifestations. The CRST syndrome (calcinosis, Raynaud's phenomenon, sclerodactyly, telangiectasia) was only identified twice. There was an increased incidence of HLA A1+B8 in those patients with scleroderma. As well as those with scleroderma, 4 patients had a destructive arthropathy resembling avascular necrosis. 4 patients had an inflammatory arthritis, without specific features, but the frequency was no greater than might be expected in the general population.
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PMID:Rheumatic disorders in primary biliary cirrhosis. 30 33

Clinical and laboratory findings were correlated from 46 patients with IgG localization in epidermal nuclei in a speckled (particulate) pattern on direct immunofluorescence of normal skin. Cutaneous manifestations included lupus erythematosus (LE), swollen hands or sclerodactyly, alopecia, vasculitis, and dyspigmentation. Systemic manifestations included arthritis or arthralgia, Raynaud's phenomenon, serositis, vascular headaches, mild renal disease, myositis, and sicca syndrome. High titer (mean = 1:142, 800) serum antibody to extractable nuclear antigen (ENA) was found in 81%. Eighty-six percent had antibody to an RNase-sensitive antigenic component of ENA (ribonucleoprotein or RNP); 14% had antibody to an RNase-resistant ENA termed Sm. Deposition of IgG in a speckled pattern in epidermal nuclei is an immunopathologic marker for a subset of connective tissue disease characterized by antibody to ENA. Those with Sm specificity had systemic LE (SLE); Those with RNP specificity had Raynaud's phenomenon usually associated with overlapping features of SLE, scleroderma, and/or dermatomyositis.
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PMID:Speckled (particulate) epidermal nuclear IgG deposition in normal skin. Correlation of clinical features and laboratory findings in 46 patients with a subset of connective tissue disease characterized by antibody to extractable nuclear antigen. 34 15

The CREST syndrome refers to a disorder comprising the manifestations of calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia. Thirteen CREST patients (two with CRST) were compared with 26 patients with systemic sclerosis but without the full manifestations of the CRST syndrome. No significant difference was found between the groups in the age of onset of Raynaud's phenomenon, degree of multiphasic digital color changes, ulcerations of fingers, sclerodactyly, or in the frequency of abnormal esophageal peristalsis or dysphagia. Laboratory results were similar, including the frequency of an elevated ESR. However, the CREST patients had a significantly lower frequency of arthralgia (54%) and arthritis (15%) than did those with scleroderma (88% and 65%, respectively). All but one of the CREST patients were women, which was a greater proportion than found among scleroderma cases (69%), and all were white (P less than .05). Most patients with the CREST syndrome had rather severe acrosclerosis. At last evaluation, four patients were chronically ill and three had died. The CREST and CRST syndromes are closely related disorders that seem to be part of the spectrum of systemic sclerosis.
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PMID:The 'CREST' syndrome. Comparison with systemic sclerosis (scleroderma). 50 20

Twenty-nine anti-RNP positive patients were followed prospectively with a mean observation time of 65 months (29-120 months). The clinical course was correlated to the presence of IgM and IgG anti-(U1)snRNP antibodies as revealed by immunoblotting from sequentially obtained sera. There was a striking dissociation between the fluctuating course, with the appearance of new manifestations followed by remissions, and the stability of the anti-snRNP antibody specificities where an appearance or a disappearance of anti-snRNP specificities was a rare phenomenon. The main epitope recognized by the IgG antibodies was the 70 kDa protein and of the IgM antibodies the B/B' proteins. No shift from the IgM to the IgG isotype was observed. The presence of IgG anti-70 kDa and IgM anti-B/B' antibodies was highly associated with presence of arthralgias, Raynaud's phenomenon and arthritis. Further, an association was noted between the combined presence of IgG anti-70 kDa, anti-A and anti-C antibodies and IgM anti-B/B' and puffy hands, myositis, pulmonary fibrosis and sclerodactyly, i.e. all manifestations of mixed connective tissue disease (MCTD). On the contrary, serositis as often seen in SLE was correlated to the presence of IgG anti-B/B' antibodies. Thus the longitudinal analysis of the correlation between anti-snRNP antibody specificities and clinical manifestations support the concept of MCTD as a distinct entity.
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PMID:Clinical manifestations and anti-(U1)snRNP antibodies: a prospective study of 29 anti-RNP antibody positive patients. 145 87

Muscle involvement was identified in 14 patients with scleroderma or a connective tissue disease overlap syndrome with predominant features of scleroderma. Patients presented with symmetrical proximal weakness indistinguishable from other inflammatory myopathies. Creatine kinase and electromyography were useful to demonstrate muscle involvement. Muscle histopathology demonstrated primarily the vasculopathy of scleroderma or polymyositis in similar numbers of patients. Scleroderma vasculopathy and polymyositis generally occur without specificity to diffuse scleroderma, the calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia syndrome, or an overlap syndrome with arthritis. Polymyositis also occurs when the vasculopathy of scleroderma involves other organ systems.
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PMID:Muscle involvement in the scleroderma syndromes. 224 71

The clinical and laboratory features of 29 patients who had one of three anti-aminoacyl-tRNA synthetase autoantibodies, anti-Jo1 (histidyl-tRNA synthetase), anti-PL12 (alanyl-tRNA synthetase) or anti-PL7 (threonyl-tRNA synthetase) were analysed and compared with the findings of other published reports. These autoantibodies were found to be associated with a syndrome delineated by inflammatory myositis (24 patients) and pulmonary fibrosis (23 of 29), but also including inflammatory arthritis (26/29), keratoconjunctivitis sicca (17/29), sclerodactyly (21/29), Raynaud's phenomenon (27/29), hepatitis (8/29) and subcutaneous calcinosis (7/29). The most important clinical determinant of outcome in this group of patients was the severity of the interstitial pulmonary disease. No patient fulfilled the classification criteria for systemic lupus erythematosus, although 10 had autoantibodies to extractable nuclear antigens including Ro, La, RNP, and Sm, and two patients had anti-dsDNA antibodies. Although it seems unlikely that anti-aminoacyl-tRNA synthetase antibodies are directly responsible for causing disease, they may provide an important clue to the aetiology of this unusual syndrome.
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PMID:Polymyositis, pulmonary fibrosis and autoantibodies to aminoacyl-tRNA synthetase enzymes. 226 80

The authors undertook a cross-sectional study to investigate the clinical associations of antiribonucleoprotein (anti-RNP) antibodies in 49 patients with systemic lupus erythematosus (SLE) without other concomitant connective tissue disorders. The traditional counterimmunoelectrophoresis (CIE) and the immunoblotting (IB) technique were compared. Clinically, special attention was given to the identification of sclerodermalike features. All patients completed a detailed questionnaire, physical examination, and additional investigations including pulmonary function tests, chest roentgenogram, radionuclide transit studies of the esophagus, and nailfold capillary microscopy. Pulmonary function testing and radionuclide transit studies of the esophagus were very sensitive for the detection of (subclinical) pulmonary and esophageal involvement, respectively. Within the relatively homogeneous SLE population, a subset was recognized that was characterized clinically by the presence of sclerodermalike features such as Raynaud's phenomenon, sclerodactyly, interstitial changes on chest roentgenogram, and decreased numbers of nailfold capillary loops, and serologically by the presence of anti-RNP antibodies. IB was somewhat more sensitive than CIE for the detection of anti-RNP (anti-Sm/anti-nRNP) antibodies but did not identify other clinical associations. Thus, anti-RNP antibodies in SLE are associated with scleroderma-associated features. For clinical practice, CIE is the technique recommended for their detection.
Semin Arthritis Rheum 1990 Dec
PMID:Clinical associations of antiribonucleoprotein antibodies in patients with systemic lupus erythematosus. 228 41

We describe a patient with a 23-year history of progressive calcinosis and features of the CREST syndrome (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasias) who was treated with diltiazem, 240 mg/day, for 5 years. No clinical exacerbation of calcinosis occurred during treatment. Radiographs showed no new lesions, and there was reduction in the size of the existing lesions. Bone scans revealed a progressive decrease in the uptake of the radionuclide by soft tissue foci. We propose that diltiazem may stop the progression of calcinosis by reducing the cellular calcium influx in affected tissues.
Arthritis Rheum 1990 Aug
PMID:The effect of diltiazem on calcinosis in a patient with the CREST syndrome. 239 Jan 32

We have characterized autoantibodies to nuclear and nucleolar antigens in 112 patients with diffuse scleroderma, CREST syndrome (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasias), scleroderma overlap syndromes, or primary Raynaud's phenomenon by indirect immunofluorescence and radiolabeled immunoprecipitation assays. We noted for the first time that anti-Th RNP antibodies represent a common antibody specificity in scleroderma (occurring in 13% of patients with scleroderma-like illnesses) and that anti-NOR 90 antibodies are quite rare in American patients (none found). In addition, we describe 3 new scleroderma-associated autoantibodies.
Arthritis Rheum 1990 Sep
PMID:The analysis of antinuclear and antinucleolar autoantibodies of scleroderma by radioimmunoprecipitation assays. 240 5

Fourteen patients with polyarthritis, Raynaud's phenomenon/sclerodactyly, and circulating (U1)RNP antibodies were followed up for 10 years. All patients could be classified as having the mixed connective tissue disease at the end of the follow-up. The immunoblotting analysis revealed marked heterogeneity in the ribonucleoprotein antibody profiles. The antibodies were mainly of the IgG isotype but in four sera only IgA and/or IgM type antibodies were demonstrated. Three patients who were found to have anti-RNP by the immunodiffusion assay proved negative for anti-U-RNP antibodies by immunoblotting. Patients with antibodies against the BB' polypeptides of U-RNP particles had a disease characterized by non-erosive arthritis, sclerodactyly and cutaneous manifestations. Patients who had antibodies against the 70 kD polypeptide of U1-RNP particles only had an erosive polyarthritis. However, these patients did not tolerate treatment with either gold salts or with D-penicillamine. Thus, the classification of the RNP antibodies by immunoblotting technique seemed to define patient groups whose disease took differing courses.
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PMID:Clinical and serological follow-up of patients with polyarthritis, Raynaud's phenomenon, and circulating RNP antibodies. 240 41


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