Cases reported "Collagen Diseases"

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1/6. mixed connective tissue disease.

    Three patients with mixed connective tissue disease (MCTD) had clinical features that included a high incidence of Raynaud phenomenon, arthritis, myositis, and swollen hands. The diagnostic laboratory test result was the presence of high titers of antibody to extractable nuclear antigen. These antibody titers are notably reduced or abolished in patients with MCTD when the tanned red blood cells that are used in the test are pretreated with ribonuclease. Speckled antinuclear antibodies were present in all patients. patients with MCTD have a low incidence of renal disease, are responsive to treatment with prednisone, and have a good prognosis.
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keywords = antigen
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2/6. The occurrence of various collagen diseases in one family: a sister with ISSc, PBC, APS, and SS and a brother with systemic lupus erythematosus.

    We encountered siblings who had collagen diseases and related symptoms. Case 1 was a 53-year-old woman who had limited cutaneous systemic sclerosis (ISSc) associated with primary biliary cirrhosis (PBC), antiphospholipid antibody syndrome (APS), and subclinical sjogren's syndrome (SS). Case 2 was a 48-year-old man, her younger brother, with systemic lupus erythematosus (SLE) that developed at 32 years of age. Investigation of their family revealed that their mother had Raynaud's phenomenon, arthritis, and subclinical sjogren's syndrome, and that another younger brother of Cases 1 and 2 had Raynaud's phenomenon and general fatigue. HLA analysis revealed that the sister and brother had some identical hla antigens in common, including A2, A33 (19), B67, B44 (12), Cw7, DR2, DR6, DR52, and DQ1. The sister, brother and their mother had common hla antigens including A2, B67, Cw7, DR2, and DQ1. Although Cases 1 and 2 shared the same HLA system, they presented different phenotypes of collagen disease.
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ranking = 2
keywords = antigen
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3/6. BP180 ELISA using bacterial recombinant NC16a protein as a diagnostic and monitoring tool for bullous pemphigoid.

    Bullous pemphigoid (BP) is an acquired autoimmune subepidermal blistering disease against hemidesmosomal cytoplasmic BP230 and transmembrane BP180 proteins. epitope mapping studies have shown that the membrane-proximal noncollagenous (NC) 16a domain of BP180 harbors clusters of antigenic sites recognized by the vast majority of BP sera. In this study, we developed an enzyme-linked immunosorbent assay (ELISA) using bacterial recombinant NC16a protein and evaluated its clinical benefit for diagnosis and monitoring disease activity. Fifty four (84.4%) of 64 sera from BP patients were positive, while only one (1.1%) of 91 sera from collagen disease patients and five (1.5%) of 336 sera from normal control barely exceeded the cut-off value. None of 69 pemphigus vulgaris sera and none of 42 pemphigus foliaceus sera exceeded the cut-off value. Thus, the sensitivity and specificity of NC16a ELISA were 84.4 and 98.9%, respectively. The correlation between ELISA scores and disease activity along the time course was examined using seven BP patients. NC16a ELISA scores tended to fluctuate in parallel with the disease activity along the time course and reflected the disease activity much better than indirect immunofluorescence. These findings indicate that NC16a ELISA will be a valuable tool not only for the diagnosis of patients with BP but also for the monitoring of the disease activity.
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ranking = 1
keywords = antigen
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4/6. Reactive perforating collagenosis: light, ultrastructural and immunohistological studies.

    Reactive perforating collagenosis is an uncommon disorder and few accounts refer to ultrastructural features. This report includes a study by light and transmission electron microscopy of serially sectioned biopsies from early lesions in two patients. Immunohistological investigations utilizing antibodies to basement membrane, laminin, collagen and cytokeratin were also done. Collagen and elastin were demonstrated within the centre of the lesions and there was a defect in the basal lamina at the base of the lesion. The collagen, cytokeratin and the basal lamina in the lesions were antigenically similar to those in the surrounding normal skin. These results are compared with previous findings and discussed in the light of the current views on the pathogenesis of this disorder.
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ranking = 1
keywords = antigen
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5/6. factor viii related antigen and childhood rheumatic diseases.

    factor viii related antigen (FVIIIRAg) levels were measured in the plasma of 63 children with rheumatic diseases and 20 controls. High levels were found in patients with systemic juvenile arthritis, systemic lupus erythematosus, dermatomyositis and systemic forms of vasculitis. The amount of circulating FVIIIRAg seemed to be independent of values for erythrocyte sedimentation rate, c-reactive protein and fibrinogen, implying that it was not just another acute phase reactant. Rather, a high level of circulating FVIIIRAg most likely reflects the presence of vascular endothelial injury, and this test may be useful in monitoring disease activity in children with rheumatic diseases in which vasculitis is present.
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ranking = 5
keywords = antigen
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6/6. Recent data on the pathology of systemic vasculitis .

    In connection with two case reports of connectivities associated with marked vascular lesions, difficult to classify, the authors are reviewing the available data on the role played by vasculitis in the pathogeny of such pathologic states. The chronologic relationship between the occurrence of the systemic vascular involvement and the sensitization to certain drugs, as well as the exposure to various antigens and infections, have suggested the concept of hypersensitization or development of immune disorders with important pathogenic role in these connectivites. The immunodepressive genetic factors, either inborn or acquired, might influence the release and activation of certain slow viruses. These recent discoveries are opening new prospects for an effective etiopathogenic treatment in such diseases.
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ranking = 1
keywords = antigen
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