Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027121 (myositis)
 4,538 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A young woman with mixed connective tissue disease (MCTD) had an isolated trigeminal sensory neuropathy as an early manifestation of the disease. Raynaud phenomenon occurred almost synchronously with the onset of trigeminal neuropathy and was followed by myositis, diffuse hand swelling, synovitis, and increased ribonucleoprotein antibody. Mixed connective tissue disease has overlapping features of systemic lupus erythematosus, scleroderma, and polymyositis, and is differentiated from them by high-titer antibody to ribonucleoprotein.
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PMID:Isolated trigeminal sensory neuropathy: early manifestation of mixed connective tissue disease. 21 41

Immunofluorescent study of the skin of nine patients with mesenchymal, inflammatory scleroderma (mixed connective tissue disease) revealed immunoglobulin and complement deposition at the basement membrane or within blood vessel walls. The skin specimens of ten patients with systemic scleroderma were negative for immunofluorescence. It is proposed that basement membrane or vascular (or both) immunofluorescence is an excellent means of identifying the infrequent patient who has scleroderma and myositis or lupus erythematosus in whom a corticosteroid response may occur.
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PMID:Direct immunofluorescence in the diagnosis of scleroderma syndromes. 32 91

Sera with an antinuclear immunofluorescence titre of 1/000 were taken consecutively from the diagnostic routine flow and examined for agglutinating antibodies against desoxyribonucleic acid (DNA) and extractable nuclear antigens (ENA). Passive haemagglutination tests with antigen-coated tanned erythrocytes were used and the specificity of the reactions was corroborated by testing against enzyme-treated cells. After the exclusion of the DNA-reacting 15%, three major groups and one minor could be distinguished on a serological basis. The largest group (41%) contained cases with a speckled immunofluorescence pattern and a RNase-trypsin sensitive agglutination reaction with ENA coated cells (sRNP). Nearly all cases of mixed connective tissue disease and scleroderma fell into this group which also contained 44% of the SLE cases. Symptomatically the group was characterized by remarkably high incidences of Raynaud's syndrome and myositis. The major group next in size comprised cases with a homogeneous immunofluorescence pattern but no reaction against DNA or ENA. Half of the cases within this group had the diagnosis SLE; they also constituted 42% of all SLE cases. The only other diagnosis of significant frequency within the group was unspecified collagenosis (23%). The symptomatology of the group was rather uncharacteristic, with the exception of the low incidence of Raynaud's syndrome. The third major group comprised cases with a speckled immunofluorescence pattern but no agglutination reaction against ENA or DNA. This group had a very high incidence of rheumatoid factor and also the highest incidence of visceral lesions among the groups. Yet the group contained only a small proportion (14%) of the SLE cases and the rheumatoid arthritis cases were about equally shared between this and the first group. The most common diagnosis in the group was unspecified collagenosis (40%). A fourth, small but homogeneous group contained cases with a speckled immunofluorescence pattern and a reaction with Sm antigen, i.e. an enzyme-resistant agglutination reaction with ENA. Six cases in this group had the diagnosis SLE. No diagnosis was available in two cases.
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PMID:Symptomatology and diagnosis in connective tissue disease. Antibodies to extractable ribonucleoprotein in 123 patients reacting with cell nuclei in the immunofluorescence test. 79 May 56

A new and distinct rheumatic disease with features of systemic lupus erythematosus (SLE), progressive systemic sclerosis and polymyositis is described. Typical symptons are Raynaud's syndrome, swollen hands and fingers, polyarthritis or polyarthralgia and myositis. Other symptoms are less common and include skin lesions, decreased pulmonary diffusing capacity, diminished esophageal motility, lymphadenopathy, and polyserositis. The diagnosis of mixed connective tissue disease (MCTD) can be established by demonstration of a high titer of antinuclear antibodies and antibodies against extractable nuclear antigen (anti-ENA). Both antibodies are directed against ribonuclease-sensitive antigen substrate, which permits differentiation of patients with MCTD from those with other rheumatic diseases. A relatively favourable prognosis and a good response to corticoid medication are further characteristics of this disease. Three personally observed patients with MCTD are described.
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PMID:[The Sharp syndrome ("mixed connective tissue disease")]. 108 43

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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PMID:Mixed connective tissue disease. 108 51

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

The ribonucleoprotein (RNP) p67 antigen was purified from rabbit thymus and used in an enzyme linked immunosorbent assay (ELISA) with low interassay variability to detect IgG antibodies to p67 in patients with autoimmune connective tissue diseases. These antibodies were found in eight (80%) patients with a clinical diagnosis of mixed connective tissue disease (MCTD) but also in 27 (40%) patients with systemic lupus erythematosus (SLE). Sixty six per cent of the 12 patients with SLE with high levels of antibodies to p67 (> 50 U) had three or more features of MCTD, including myositis, fibrosing alveolitis, Raynaud's phenomenon, and sclerodactyly. Antibodies to the p67 RNP were not associated with the presence or absence of renal disease in the patients with SLE. This study suggests that antibodies against the p67 RNP are markers for clinical features of MCTD even in the context of SLE.
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PMID:Clinical associations of IgG antibodies to the ribonucleoprotein p67 polypeptide in patients with systemic lupus erythematosus. 148 13

Progressive multifocal leukencephalopathy (PML) is a very rare complication of immunosuppressive or cytostatic treatment of rheumatic diseases. We describe a patient with a mixed connective tissue disease (MCTD) existing for more than 15 years, who had polyarthritis, myositis, scleroderma-like symptoms, pulmonary involvement, and psychosis of undetermined origin. After a 12-year low-dose corticosteroid therapy and a 4-year azathioprin therapy a quickly progressive PML developed; symptoms included: difficulty in urinating, bladder, articulation, spastic hemiplegia, eye movement malfunction. The patient died after after a few months. PML is an important consideration in the differential diagnosis when a patient with MCTD develops neurologic symptoms.
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PMID:[Progressive multifocal leukoencephalopathy as a cause of neurologic symptoms in Sharp syndrome]. 174 73

A 47-year-old woman with mixed connective tissue disease (MCTD) was reported. She developed various neuromuscular complications including carpal tunnel syndrome, narrowing of visual field, dysesthesia on face and extremities and weakness before elevation of antibody to RNP. On the examination of biopsied specimens of muscle and peripheral nerve, myositis and demyelination were suspected, respectively. Electroencephalography showed diffuse slowing which was without clinical evidence of the central nervous system involvement and was normalized by the treatment with prednisolone. Present case seems to provide some insights into the neuromuscular complications in MCTD.
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PMID:[Mixed connective tissue disease--various neuromuscular complications prior to the elevation of antibody to RNP]. 180 73

We describe a 55-year-old woman with an 8-year history of mixed connective tissue disease (MCTD). Her condition was characterized by severe Raynaud's, swollen fingers, digital ulceration and gangrene, esophagitis, polyarthropathy, myositis and restrictive lung function. She consistently had antibodies to U1-RNP. Rheumatoid factor was present in low titer. She developed atlantoaxial subluxation, a feature seen commonly in rheumatoid arthritis, reported in spondyloarthropathy and a small number of patients with systemic lupus erythematosus but not described in MCTD.
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PMID:Atlantoaxial subluxation in a patient with mixed connective tissue disease. 183 16


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