Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024141 (systemic lupus erythematosus)
 44,322 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The study of antiphospholipid (aPL) antibodies has been greatly developed in recent years and conclusive evidence now exists concerning the correlation between aPL and clinical signs such as thrombosis, thrombocytopenia, abortion, and fetal loss. Several hypotheses have been put forward concerning the pathogenic mechanism of aPL, but none has received final confirmation from experimental data. Many studies have been devoted to characterizing the antigens recognized by the different aPL autoantibodies and to a cofactor involved in the binding of autoantibodies and phospholipids; this cofactor has been identified as an apolipoprotein, the beta 2 glycoprotein I (beta 2GPI) or APO-H. Direct evidence now exists which suggests that both the beta 2GPI and the phospholipid comprise the epitope to which aPL are directed. On the other hand anti-beta 2GPI antibodies have been identified in sera of patients suffering from SLE and primary Antiphospholipid Syndrome. beta 2GPI is normally present in human plasma/serum and possesses numerous inhibitory functions in multiple coagulation pathways. The amino acid sequence of beta 2GPI has been identified and found to consist of five repeating units that belong to the complement control protein (CCP) superfamily. This development of knowledge related to aPL has followed three steps respectively: 1. the standardization of the techniques of detection: 2. identification of the clinical signs related to the autoantibodies: and finally 3. the discovery of a new player, the beta 2GPI cofactor.
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PMID:A new player in the antiphospholipid syndrome: the beta 2 glycoprotein I cofactor. 130 77

In order to assess the prevalence of cardiac involvement in the primary antiphospholipid syndrome (PAS), a syndrome which associates thromboembolism, recurrent abortion, the presence of antiphospholipid antibodies and thrombocytopenia, transthoracic (TTE) and trans-esophageal echocardiography (TEE) was performed in 15 patients, 10 women and 5 men with a mean age of 38.8 +/- 11 years, with the PAS but without systemic lupus erythematosus. The presentation of the PAS was a thrombotic event (6 arterial and 7 venous) in 13 cases, and recurrent abortion in 3 cases. Twelve patients had high anticardiolipin antibody levels (> or = 15 U GPL) and 12 had a raised anti-prothrombinase antibody title. Valvular heart disease was detected in 9 patients (60%) as a valve thickening (> or = 5 mm for the mitral and > or = 3 mm for the aortic valve) or nodule. Mitral regurgitation was observed in 4 cases both on TTE and TEE and was mild in 3 cases and severe in 1 case. Aortic regurgitation was diagnosed in 6 patients, in 3 cases by TTE and in 6 cases by TEE. It was mild in 5 cases and moderate in the other cases. Pericardial effusion was observed in 3 patients (20%), alone in 1 case and associated with valvular disease in the other two cases. No abnormality of left ventricular systolic or diastolic function could be demonstrated. In conclusion, cardiac involvement seems to be common in the PAS, and TEE is a sensitive and accurate method for describing the valvular, especially aortic valve, abnormalities.
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PMID:[Prevalence and description of cardiac involvements in primary antiphospholipid syndrome]. 130 23

Antibodies directed against phospholipids are highly associated with episodes of venous and arterial thrombosis, which are often recurrent. There seems to be a skewed frequency of cerebral thrombosis when the arterial circulation is affected. Clinical clues that should lead to evaluation for aPL include stroke in a young adult, recurrent thrombosis or miscarriage, and thrombocytopenia. Associated laboratory abnormalities include a biologically false-positive test for syphilis, abnormal antinuclear antibody titers, and a high erythrocyte sedimentation rate. If the activated partial thromboplastin time is prolonged on routine screening and does not correct with mixing studies, a lupus anticoagulant should be suspected. However, more sensitive and specific tests are usually necessary to detect aPL. Many in vitro and more recently in vivo systems strongly suggest that aPL may be directly implicated in the pathogenesis of thrombosis. Optimal management of patients with aPL-associated thrombosis is unknown. The use of aggressive therapeutic management schemes with such agents as warfarin or corticosteroids is sometimes required.
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PMID:Antiphospholipid antibodies and ischemic stroke. 134 35

Anticardiolipin antibodies belong to a family of antibodies to phospholid and are important in pathogenesis of some diseases. Statistically significant high titer of circulating anticardiolipin antibodies were found in SLE patients, thromboembolic events, thrombocytopenia and recurrent fetal loss. We tested 53 sera of SLE patients to anticardiolipin antibodies by own modification of ELISA. Only two sera were positive, one of them was associated with recurrent fetal loss and disease. The incidence of anticardiolipin antibodies in we have found no correlation with the activity of to those reported in other studies. Our tested sera (4%) was much lower in comparison.
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PMID:[Anticardiolipin antibodies--detection and diagnostic value]. 136 9

The ACHE and BCHE genes, encoding the acetylcholine hydrolysing enzymes acetylcholinesterase (ACHE) and butyrylcholinesterase (BCHE), co-amplify with several oncogenes in leukemic patients with platelet deficiency (thrombocytopenia). This and other experiments implicated ACHE and BCHE in the development of bone marrow megakaryocytes, the progenitors of platelets. Therefore, we wished to find out whether cholinesterase gene amplification would also occur in non-cancerous platelet disorders and, if so, whether oncogenes would amplify in such cases as well. The autoimmune disease systemic lupus erythematosus (SLE) presents an appropriate model system for this issue, since patients with SLE may suffer from thrombocytopenia resistant to most treatment modalities. Here, we report a 40-80-fold amplification of genomic sequences from the ACHE and BCHE genes as well as the C-raf, V-sis and C-fes/fps oncogenes in peripheral blood cells from an SLE patient with severe thrombocytopenia. PvuII restriction analysis and DNA blot hybridization of the amplified ACHE and BCHE sequences demonstrated apparent aberrations in both genes, suggesting that malfunctioning of modified, partially amplified cholinesterase genes may be involved in the etiology of thrombocytopenia associated with SLE. These observations imply that cholinergic mechanisms regulate megakaryocytopoiesis, shed new light on the diverse hematologic findings characteristic of SLE, and may become valuable as diagnostic, treatment and prognostic tools in the follow-up of patients suffering from thrombocytopenia associated with SLE. Furthermore, these findings reinforce the notion that cholinesterase gene amplifications are causally related with platelet abnormalities in multiple hemopoietic disorders.
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PMID:In vivo gene amplification in non-cancerous cells: cholinesterase genes and oncogenes amplify in thrombocytopenia associated with lupus erythematosus. 137 19

A 57-year-old man with no evidence of infection, vasculitis or connective tissue disease died with multiple organ thromboses after an acute illness. He was found to have lupus anticoagulant, IgG anticardiolipin antibody, false positive rapid plasma reagin, prolonged partial thromboplastin time, and thrombocytopenia. Venous and arterial thrombi leading to necrosis were found in his scrotum, testicles, upper and lower extremities, adrenals, kidneys, lungs, and brain. No other explanation could be found for his fatal illness, thus suggesting the primary antiphospholipid syndrome (APS). This is a documented case of primary APS associated with multiorgan arterial and venous thromboses of large and small vessels, presenting as a fulminant and fatal acute illness.
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PMID:Primary antiphospholipid syndrome with multiorgan arterial and venous thromboses. 140 68

Immunological data are reported from 19 cases of immune-mediated disease recorded in the old English sheepdog breed in Western Australia between 1978 and 1989. The conditions included autoimmune haemolytic anaemia (seven), idiopathic thrombocytopenia (one), Evans' syndrome (five), multiple myeloma (two), systemic lupus erythematosus (one), discoid lupus erythematosus (one) and hypothyroidism (two). The most consistent serological findings were raised serum IgG (60 per cent), depressed serum IgM (60 per cent) and the presence of multiple autoantibodies (anti-red blood cell 78 per cent, antinuclear antibody 44 per cent, rheumatoid factor 19 per cent). An underlying, breed-related disorder of immune regulation may account for these observations.
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PMID:Immune-mediated disease in the old English sheepdog. 141 Aug 24

Bilateral symmetrical polyarthritis occurred in three patients (2 males and 1 female), with no previous history of inflammatory rheumatologic disease, given alpha-interferon for 1 1/2, 7, and 10 months as treatment of chronic non A-non B hepatitis, myelofibrosis, and thrombocytopenia with myeloproliferative disorder, respectively. Joint manifestations developed 1 1/2, 3, and 10 months after initiation of alpha-interferon in a dosage of 3.10(6) U three times a week, 4.5.10(6) U per day, and 8.10(6) U three times a week. Polyarthritis persisted following withdrawal of alpha-interferon in the two last patients of whom one had rheumatoid nodules and positive rheumatoid serology and the other had scleritis, exanthema, and negative rheumatoid serology. Erosive rheumatoid arthritis was diagnosed after 28 months and 12 months, respectively, in two patients who required systemic corticosteroids with antimalarials (1 case) or azathioprine after failure of methotrexate (one case). Follow-up in the third case (12 months) is too short to allow differentiation of systemic lupus erythematosus (ANA: 1/1500 H with anti-DNA antibodies 58 U/ml) and chronic autoimmune hepatitis. Reports of chronic inflammatory rheumatologic disease during alpha interferon therapy are exceedingly few in number. In the cases reported herein, alpha-interferon may have either triggered or revealed the joint disease. To prevent occurrence of this complication, exclusion from alpha-interferon therapy of patients with autoantibodies or a positive history for clinical evidence of immune dysfunction may be considered.
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PMID:[3 cases of polyarthritis treated with recombinant alfa interferon]. 141 Nov 90

A case of myelofibrosis in association with systemic lupus erythematosus (SLE) is reported. Acute thrombocytopenia and a bleeding tendency developed in a 24-year-old woman with SLE. Bone marrow aspiration was unsuccessful due to myelofibrosis. Pulse therapy with methylprednisolone reversed both thrombocytopenia and myelofibrosis. A review of the literature revealed that the coexistence of SLE and myelofibrosis is a rare occurrence. Only 7 cases, to our knowledge, have ever been reported in detail. The present case is the 3rd in which myelofibrosis was reversed by corticosteroids.
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PMID:Myelofibrosis and systemic lupus erythematosus: reversal of fibrosis with high-dose corticosteroid therapy. 836 9

Serum levels of immunoglobulins (Ig) A, G, and M anti-cardiolipin (aCL) antibodies were determined by enzyme-linked immunosorbent assay in a group of selected systemic lupus erythematosus female patients. Patients were divided into three groups based on their clinical history of thrombosis with or without thrombocytopenia (group I), thrombocytopenia alone (group II), and neither of these (group III). After the aCL antibody levels were determined, the patients' obstetric histories of pregnancies and abortions were reviewed. A high incidence of one or more abortions was seen only in group I patients. A high prevalence of elevated levels of IgA and IgG (but not IgM) aCL antibodies was observed in group I patients. However, among the patients in group II, only the levels of IgA aCL antibodies were increased. In both groups, the addition of the IgA aCL determination--to the classical IgG and IgM aCL assays--increased the prevalence of positive reactors in 31.6%. These results indicate that high levels of IgA aCL antibodies correlated better with thrombocytopenia than either IgG or IgM. Also, the importance of including the determination of IgA aCL antibodies to assess properly the risk of thrombosis, thrombocytopenia, and recurrent abortions in systemic lupus erythematosus patients is demonstrated.
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PMID:Clinical significance of immunoglobulin A versus immunoglobulins G and M anti-cardiolipin antibodies in patients with systemic lupus erythematosus. Correlation with thrombosis, thrombocytopenia, and recurrent abortion. 141 24


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