Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036421 (PSS)
 10,989 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The HLA-A, B, C, and DR loci of 136 patients with progressive systemic scleroderma have been determined. The patients were classified according to the extent of their skin affection and into groups with or without immunologic and inflammatory signs of the disease. The antigens of the A locus did not show any significant deviations in frequency of occurrence. An increase of HLA-B8 and HLA-DR3 was only proved in the male patient group. Furthermore, in the HLA-DR gene locus, an increase in frequency of HLA-DR1, 2, 3, and 5 could be found. However, in the total set of patients, only the correlation of HLA-DR5 with progressive systemic scleroderma reached significance. Patients suffering from the CREST (calcinosis, Raynaud's phenomenon, esophagus, sclerodactyly, and telangiectasia) syndrome showed an increase of HLA-DR1. Patients with inflammatory signs of the scleroderma showed an accumulation of HLA-DR2. Several HLA-linked genes control the susceptibility to scleroderma.
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PMID:Association of progressive systemic scleroderma to several HLA-B and HLA-DR alleles. 349 40

An autoantibody reactive with a 72,000 dalton centromeric antigen was detected by immunoblotting with the use of a nuclear enriched HeLa cell preparation in 42 of 77 patients with progressive systemic sclerosis (PSS). Reactivity with the 72,000 dalton polypeptide was associated with anti-centromere autoantibodies (ACA) detected by immunofluorescence (IF), and the antigen was highly conserved, being present in both human cells and Leishmania tropica. Thirty-five (83%) of the 42 sera reactive with the 72,000 dalton polypeptide also reacted with a 19,500 dalton polypeptide, and antibodies eluted from both the 72,000 dalton and the 19,500 dalton polypeptides reacted with the centromere when retested by IF on intact HEp2 cells, demonstrating that both polypeptides are antigenic components of the centromere. Only one of the 42 sera had precipitating antibodies to the Scl-70 antigen detected by counterimmunoelectrophoresis, indicating that the 72,000 dalton polypeptide was not related to the previously described Scl-70 antigen. The other 35 of the 77 sera tested were negative for ACA, although all had ANA, with the main patterns of IF being fine speckling of the nucleus (18 sera) and homogeneous or speckled staining of the nucleolus (17 sera). Anti-Scl-70 antibodies were detected in 17 of these 35 patients, 15 (88%) of whom reacted with an 89,000 dalton polypeptide, one with a 140,000 dalton polypeptide, and one with a 74,000 dalton polypeptide. Ten of the 15 sera reacting with the 89,000 dalton polypeptide also reacted with a 74,000 dalton polypeptide, and 2-D gel analysis suggested a relationship between the two molecules. Clinically defined types of scleroderma tended to associate with antibodies to particular molecular antigenic specificities. Thirty-seven (88%) of the 42 patients reactive with the 72,000 dalton polypeptide had sclerodactyly and features of the CREST syndrome, whereas patients reactive with the 89,000 dalton polypeptide and with Scl-70 tended to have more extensive cutaneous and visceral involvement.
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PMID:A highly conserved 72,000 dalton centromeric antigen reactive with autoantibodies from patients with progressive systemic sclerosis. 353 35

Ninety patients who fulfilled the ARA criteria for systemic sclerosis were divided into 6 groups on the basis of cutaneous areas of sclerosis. Anticentromere antibody (ACA) was found in 14 of 28 patients of the first 2 groups, the first group being pure sclerodactyly, and the second sclerodactyly plus minimal sclerotic lesions (eyelids, neck, armpits). In the other 4 groups (62 patients) in whom skin sclerosis was more diffuse, ACA was found in one case. Fluorescent antinuclear antibodies (FANA) with a diffusely grainy pattern, those with a nucleolar pattern and the anti-Scl-70 antibody were present in all 6 groups, but were significantly more frequent in the last 4 groups than in Groups 1 and 2. The cumulative survival rate as well as disease duration were found to be significantly longer in the first 2 groups designated "limited cutaneous systemic sclerosis," than in the 5th and 6th groups, i.e., patients in whom the trunk also was involved: "diffuse cutaneous systemic sclerosis." The cumulative survival rate and disease duration of patients with skin sclerosis of the face and limbs, but not of trunk, were not significantly different either from those of patients with limited cutaneous systemic sclerosis or from those of patients with diffuse cutaneous systemic sclerosis. Thus these patients show the same antibody pattern as diffuse cutaneous systemic sclerosis, but the prognosis not significantly different from the other 2 subsets. We suggest they constitute a distinct subset of systemic sclerosis for which we propose the name "intermediate cutaneous systemic sclerosis."
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PMID:Different antibody patterns and different prognoses in patients with scleroderma with various extent of skin sclerosis. 354 86

Twelve patients with progressive systemic sclerosis (four with CREST [calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia] variant) underwent systematic evaluation to assess the esophagogastric effects of metoclopramide hydrochloride in this patient population. Esophageal manometry, esophageal radionuclide scintigraphy, solid-phase gastric emptying, and 24-hour esophageal pH monitoring were performed in all patients with and without metoclopramide. Metoclopramide improved lower esophageal sphincter pressure and reduced the gastric emptying delay and gastroesophageal reflux in most patients but had a less consistent effect improving esophageal transit or esophageal body pressures. Metoclopramide should be strongly considered in the pharmacologic approach to the gastroesophageal reflux-related complications of this disease.
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PMID:Metoclopramide response in patients with progressive systemic sclerosis. Effect on esophageal and gastric motility abnormalities. 363 68

Pulmonary hypertension (PHT) occurred in 59 (9%) of 673 systemic sclerosis patients seen between 1963 and 1983. In 30 patients, all with the CREST syndrome (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasias), the pulmonary hypertension was isolated, i.e., independent of other pulmonary or cardiac conditions. In 20 patients, isolated PHT was demonstrated by cardiac catheterization. All had normal or only mildly decreased lung volumes, and mild or no pulmonary interstitial fibrosis on chest roentgenogram. In comparison with 287 CREST syndrome patients without PHT, these 20 patients had markedly reduced diffusing capacity for carbon monoxide (DLCO) (mean 39% of predicted normal). In 6 patients, the low DLCO antedated clinical evidence of PHT by 1-6 years. At autopsy there was marked intimal fibrosis with hyalinization and smooth muscle hypertrophy in the small- and medium-sized arteries, without significant parenchymal fibrosis or inflammation. Patients with isolated PHT did not respond favorably to vasodilators and had a very poor prognosis, with a 2-year cumulative survival rate of 40%. A DLCO less than 45% of predicted in the absence of pulmonary interstitial fibrosis may be an important predictor of the subsequent development of isolated PHT.
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PMID:Pulmonary hypertension in the CREST syndrome variant of systemic sclerosis. 370 29

A 54 year old male with the CREST (Calcinosis, Raynauds, Esophageal hypomotility, Sclerodactyly, Telangiectasia) variant of progressive systemic sclerosis (PSS) presented with vertical diplopia diagnosed as a left superior oblique muscle paralysis. Although cranial nerves abnormalities have been reported in PSS, to our knowledge this is the first report of the CREST syndrome in association with a IV nerve palsy in whom no other etiology could be found.
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PMID:Superior oblique muscle paralysis in the CREST syndrome. 379 24

Eighty-seven patients diagnosed as having primary Raynaud's phenomenon (Raynaud's disease) were reexamined after this symptom had been present for a mean of 8.8 years (range 2.0-34.5). One or more additional clinical feature(s) suggesting an underlying connective tissue disease were found in 12 patients (14%) at first evaluation, and in 23 (26%) by the last evaluation. The most frequent findings were puffy fingers (10 patients), digital tip pitting scars (8 patients), and digital tip ulcerations (6 patients). Distal esophageal hypomotility and/or decreased pulmonary diffusing capacity for carbon monoxide were found in 12 patients. Only 4 individuals (5%) developed clear evidence of a connective tissue disease, and in all cases, the diagnosis was the CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasias) syndrome variant of systemic sclerosis. This condition became obvious 8-17 years after the onset of Raynaud's phenomenon. One or more serologic test values were initially abnormal in 2 of these CREST syndrome patients, as well as in 12 patients who continued to have primary Raynaud's phenomenon at the last evaluation. The combination of puffy fingers, digital pitting scars, and serum anticentromere antibody, all consistent with CREST syndrome, occurred in a small group of patients. None of the 78 patients whose serologic tests were repeated during followup had a change in the serologic profile. These results suggest that only a small proportion of patients with primary Raynaud's phenomenon develop one of the connective tissue diseases during the first decade after onset. When such a disorder does appear, systemic sclerosis with the CREST syndrome variant is the most likely eventual diagnosis.
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PMID:Evolution of primary Raynaud's phenomenon (Raynaud's disease) to connective tissue disease. 387 30

Fifty-five unrelated whites with disorders in the scleroderma spectrum who had both antinuclear antibodies and Raynaud's phenomenon (RP) were studied. Of the 22 patients with anticentromere antibody (ACA), three had diffuse scleroderma; 16 had the complete or incomplete syndrome of calcinosis, RP, esophageal dysmotility, sclerodactyly, and telangiectasia (CREST syndrome); and three had RP only. Thirty-three patients with other nuclear patterns all had systemic scleroderma (28 diffuse scleroderma, five CREST syndrome). Patients with ACA had less organ system involvement, and lower frequencies of anemia and elevation of sedimentation rate than ACA-negative patients, but these differences were not statistically significant. They also had fewer manifestations of CREST syndrome. All 55 patients were studied for the Gm and Km allotypic markers. No association was found between Gm or Km allotypic markers and scleroderma or between the allotypic markers and the presence of ACA.
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PMID:Anticentromere antibody and immunoglobulin allotypes in scleroderma. 388 3

Nailfold capillary abnormalities in 42 consecutive patients with systemic sclerosis were studied by wide field capillary microscopy, and capillary abnormalities were correlated with organ involvement. Twenty-eight patients hd diffuse skin disease, and 14 had the CREST variant of systemic sclerosis (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasis) with anticentromere antibodies. Nailfold capillary enlargement and loss were graded from photographs. There was no correlation between the severity of either nailfold capillary loss or enlargement and duration of disease, number of organ systems involved, or acroosteolysis. The presence of telangiectasis correlated with extreme capillary enlargement (P less than 0.025). Based on these findings it can be concluded that nailfold capillary changes in individual patients with systemic sclerosis are not useful in predicting organ involvement.
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PMID:Relationship between nailfold capillary abnormalities and organ involvement in systemic sclerosis. 400 59

One hundred sixty-five nonsmoking systemic sclerosis patients were evaluated by pulmonary function testing. Restrictive lung disease and an isolated reduction of the diffusing capacity of carbon monoxide were the most frequent abnormalities. Patients with the CREST syndrome (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias) had a similar frequency and severity of pulmonary involvement compared with the patients who had diffuse scleroderma. CREST syndrome patients with restrictive lung disease rarely had the anticentromere antibody and had more skin and joint involvement of their hands, compared with other CREST syndrome patients. Dyspnea and rales were most commonly found in patients with restrictive lung disease. Fibrosis, shown on chest radiograph, and pulmonary function abnormalities correlated poorly with each other. Dyspnea was associated with restrictive disease, and rales were more commonly found in patients with fibrosis. Patients with a restrictive abnormality had the worst prognosis, with a 5-year survival rate of 58%, although death from pulmonary causes was uncommon. Comparison of these nonsmoking patients with 137 scleroderma patients who smoked, seen during the same time period, revealed more frequent and severe obstructive changes in smokers. Smoking patients with restrictive lung disease had more severe disease than nonsmoking patients. The single breath diffusing capacity for carbon monoxide was significantly decreased in the patients who smoked compared with the nonsmokers. These data confirm that pulmonary function abnormalities are common in patients with systemic sclerosis including CREST syndrome. Smoking appears to have an additive deleterious effect on pulmonary function and should be strongly discouraged.
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PMID:Pulmonary involvement in systemic sclerosis (scleroderma). 401 23


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