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)

Platelet serotonin concentrations were measured in 43 patients with systemic sclerosis, in 11 patients with primary Raynaud's phenomenon, and in 38 normal controls. Patients with the CREST variant (calcinosis, Raynaud's phenomenon, oesophageal dysmotility, sclerodactyly, telangiectasia) had significantly lower platelet serotonin concentrations than normal controls. Patients with diffuse systemic sclerosis had normal platelet serotonin concentrations. In patients with CREST treatment with ketanserin, a specific serotonin antagonist, normalised platelet serotonin concentrations. These data provide further evidence suggesting that in systemic sclerosis, particularly the CREST variant, there is widespread platelet activation.
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PMID:Platelet serotonin in systemic sclerosis. 277

This paper looks at the problem confronting a doctor evaluating a patient with anticentromere antibody who does not have evidence of disease along the spectrum from CREST (calcinosis, Raynaud's phenomenon, oesophageal dysmotility, sclerodactyly, telangiectasia) to progressive systemic sclerosis. Of 33 people with anticentromere antibody, 21 had CREST and two had scleroderma. Of the other 10 with a positive anticentromere antibody, three had systemic lupus erythematosus (two with digital vasculitis), three very active seronegative polyarthritis, three Raynaud's phenomenon, and one a claudication syndrome involving the legs. A positive antinuclear antibody test does not always indicate the presence of a connective tissue disease, but the presence of anticentromere antibody without systemic sclerosis or CREST often indicates the presence of another sometimes serious underlying rheumatic or connective tissue disease.
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PMID:Anticentromere antibody in patients without CREST and scleroderma: association with active digital vasculitis, rheumatic and connective tissue disease. 280

The overwhelming majority of patients with PSS present with combinations of Raynaud's phenomenon, sclerodactyly, polyarthralgias, or swelling of an extremity. However, the clinical presentation of PSS may be atypical; 14% of patients in the present series initially sought medical attention for symptoms other than Raynaud's phenomenon, tight skin, or joint pain. In the present series, only 31% of patients fulfilled the ARA criteria for PSS at the time of initial medical evaluation. Most patients manifested advanced disease by the time the criteria were fulfilled. The ARA criteria for the classification of PSS appear to have limited value with regard to making the diagnosis in an individual patient. Rapidly progressive PSS occurred in 17.6% of patients in this series and represents a particularly fulminant form of the disease whose course may not be predictable on clinical grounds at the time of initial medical evaluation or diagnosis. Patients destined to develop renal or cardiorespiratory failure usually do so in the first 3 years of disease. Close observation of PSS patients during the first 12 to 18 months may serve to identify those individuals who will undergo an accelerated disease course. Prognosis for patients with rapidly progressive PSS is poor and is associated with significantly higher mortality compared with patients with a more protracted disease course. Future therapeutic trials in PSS should be designed with the recognition that a subgroup of patients with this disorder will have a rapidly progressive disease course.
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PMID:Progressive systemic sclerosis: mode of presentation, rapidly progressive disease course, and mortality based on an analysis of 91 patients. 318 42

An increased chromosomal breakage rate (ICBR) was found in 27 of 28 patients with scleroderma (systemic sclerosis, SS) - 5 with the syndrome including calcinosis cutis, Raynaud phenomenon, esophagus hypomotility, sclerodactyly and telangiectasia (CREST), 4 incomplete CREST, 1 overlapping syndrome, 18 progressive systemic sclerosis (PSS). Not only the patients, but also about half of their first-degree relatives showed an increased chromosomal breakage rate (more than 5 breaks per 100 metaphases). This character segregated as a dominant marker in nine families of scleroderma patients. In the six informative of the nine families, the ICBR trait showed close linkage with the HLA region on chromosome 6 (total lod score 5.5 at theta = 0). In these families, ICBR was predominantly observed in linkage with HLA haplotype A1, Cw7, B8, C4AQ0B1, DR3 which is frequently observed in autoimmune diseases. The nature of the agent inducing chromosomal breakage in cultured lymphocytes of some, but not all family members of scleroderma patients remains to be clarified.
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PMID:Family studies in scleroderma (systemic sclerosis) demonstrating an HLA-linked increased chromosomal breakage rate in cultured lymphocytes. 319 28

Mitochondrial autoantibodies, a hallmark of primary biliary cirrhosis (PBC), have been widely described for many years in patients with systemic sclerosis, and there have been several reports of the concurrence of systemic sclerosis and PBC. However, there is very little information with respect to the significance of these autoantibodies or any definitive evidence that the antigens involved represent the mitochondrial autoantigens (M2 complex) described in PBC. We have cloned and sequenced a rat complementary DNA which encodes for all the epitopes recognized by autoantibodies to the major, or 70-kd, mitochondrial autoantigen in patients with PBC. Using this recombinant fused autoantigen, as well as by immunoblotting with human placental mitochondria, we tested for antimitochondrial antibody specificity in sera from 250 patients with systemic sclerosis. Nineteen sera (7.6%), including those from patients with CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasias) and diffuse scleroderma, had reactivity with human placental mitochondria proteins by immunoblot testing. All 19 sera reacted with the M2 complex. All sera that reacted with the 70-kd protein likewise reacted with the recombinant cloned autoantigen. The predominant autoantibody isotype to the 70-kd protein was IgG3. Interestingly, the 70-kd protein is 11% proline, an amino acid which is frequently preceded by hydrophobic amino acids.
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PMID:Autoantibodies to mitochondria in systemic sclerosis. Frequency and characterization using recombinant cloned autoantigen. 328 19

An autopsy case-control study of renal vascular histology and morphometry in systemic sclerosis (scleroderma) was performed. Thirty-five of 70 systemic sclerosis cases had renal tissue available for study: 26 had diffuse cutaneous involvement (9 with "renal crisis" and 17 without) and 9 had limited cutaneous disease (CREST syndrome [calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasias]). Age-matched (within 10 years) and sex-matched controls with renal specimens were obtained. New sections were cut from tissue blocks, and morphometry was completed using a Zeiss Image Analyzer. Using analysis of variance, the intimal area (Ai) was significantly increased (intimal thickening) in small and medium-sized arteries of patients with diffuse scleroderma and in small arteries of CREST patients, compared with those in controls, while a decreased medial area (Am) was seen consistently in all groups. The proportion of the vessel wall occupied by intima (Ai:[Ai + Am]) was significantly greater in all vessel size groups in patients with diffuse scleroderma compared with that in controls. The percentage of luminal occlusion was greatest in patients with diffuse disease with renal crisis. These same patients had severe edematous and mucinous intimal thickening in small and medium vessels, often in association with fibrinoid necrosis. We conclude that renal vascular structural changes are an integral part of systemic sclerosis. However, the significant differences between diffuse scleroderma patients and CREST syndrome patients, for both intimal thickening and percentage of luminal occlusion, suggest that the arterial disease in these 2 patient subsets is distinctive.
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PMID:Renal vascular histology and morphometry in systemic sclerosis. A case-control autopsy study. 335 1

We performed thallium 201 muscle scans to assess muscular involvement in 40 patients with different connective tissue diseases (7 with dermatomyositis, 7 with systemic lupus erythematosus, 12 with progressive systemic scleroderma, 2 with calcinosis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, and telangiectasia (CREST) syndrome, 3 with monomelic scleroderma, 6 with morphea, and 3 with Raynaud's disease). Only 12 of these patients complained of fatigability and/or myalgia. Electromyography was performed and serum levels of muscle enzymes were measured in all patients. Comparison of thallium 201 exercise recording with the other tests revealed that scan sensitivity is greater than electromyographic and serum muscle enzymes levels. Thallium 201 scans showed abnormal findings in 32 patients and revealed subclinical lesions in 18 patients, while electromyography findings were abnormal in 25 of these 32 patients. Serum enzyme levels were raised in only 8 patients. Thallium 201 scanning proved to be a useful guide for modifying therapy when laboratory data were conflicting. It was useful to evaluate treatment efficacy. Because our data indicate a 100% positive predictive value, we believe that thallium 201 scanning should be advised for severe systemic connective tissue diseases with discordant test results.
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PMID:Evaluation of muscular lesions in connective tissue diseases: thallium 201 muscular scans. 337 58

Autonomic function assessed by tests of cardiovascular reflexes was studied in 25 patients with systemic sclerosis and 10 patients with primary Raynaud's phenomenon. A comparison was made with 13 normal healthy subjects. Significant abnormalities in the cardiovascular reflexes were found in systemic sclerosis, both in the CREST (calcinosis, Raynaud's phenomenon, oesophageal dysmotility, sclerodactyly, telangiectasia) variant and also in those patients with diffuse involvement. There was sympathetic and parasympathetic dysfunction. These findings suggest that autonomic neuropathy is a feature of systemic sclerosis.
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PMID:Autonomic neuropathy in systemic sclerosis. 340 Oct 50

Sixteen consecutive patients with systemic sclerosis (CREST variant (calcinosis, Raynaud's phenomenon, oesophageal dysmotility, sclerodactyly, telangiectasia)) were included in this study. Standard non-invasive clinical and electrocardiographic procedures for the detection of cardiovascular autonomic insufficiency were performed in all patients and included heart rate (HR) response to deep breathing, Valsalva manoeuvre, and standing, and blood pressure (BP) response to hand grip and standing. None of the patients had overt cardiovascular disease or were receiving cardiovascular treatment at the time of testing. Results were compared with those obtained in 17 controls. A significant difference between patients and controls was observed only in the HR and BP response to standing (results of this last procedure were within the normal expected values in both patients and controls). We conclude that patients with systemic sclerosis and CREST syndrome may have an abnormal vascular response to standing; cardiovascular autonomic insufficiency, however, does not appear to be a significant feature in these patients.
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PMID:Normal cardiovascular autonomic function in patients with systemic sclerosis (CREST variant). 341 66

The authors conducted a study of 47 patients with a diagnosis of systemic sclerosis in order to determine the sensitivity, specificity and Youden index and consequently the diagnostic value of the generally accepted criteria and of some other common disease features. The control population consisted of 324 patients with rheumatoid arthritis and 35 patients with systemic lupus erythematosus. In addition to proximal scleroderma, the presence of which was required for inclusion in this study, other disease features score a high to moderate Youden index: sclerodactyly, Raynaud's phenomenon, appearance of perioral grooves, cinematographic evidence of esophageal hypomotility, periarticular calcifications, widening of the periodontal membrane on teeth radiographs and specific histologic changes on fingertip biopsy. Finally, a good correlation was found with most of the ARA subcommittee criteria.
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PMID:Disease manifestations of progressive systemic sclerosis: sensitivity and specificity. 344 3


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