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 antiphospholipid syndrome (characterized by the presence of circulating lupus anticoagulants or anticardiolipin antibodies) was first recognized in patients with systemic lupus erythematosus (SLE), but the syndrome can also exist in the absence of SLE. The clinical features include arterial or venous thrombosis, recurrent abortion, neurological problems, and various cutaneous disorders including thrombophlebitis, livedo reticularis, atrophie blanche, leg ulcers, and gangrene. In some cases, antiphospholipid antibodies may play a role with other recognized syndromes characterized by vascular occlusion, such as Sneddon's syndrome (livedo reticularis with cerebrovascular occlusion) and Degos' disease.
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PMID:Antiphospholipid syndrome and cutaneous vasoocclusive disorders. 193 63

Moyamoya disease is an uncommon clinical entity, characterized by bilateral occlusion of the internal carotid artery and the development of collateral arteries. An 18-year-old Saudi male with systemic lupus erythematosus (SLE) presented with mild right hemiparesis, followed by recurrent ischemic stroke. Cerebral angiography showed bilateral internal carotid artery stenosis associated with the development of collateral circulation (moyamoya vessels). There was no evidence of active SLE or other risk factors for cerebral occlusion, such as antiphospholipid antibody syndrome. Medical and surgical interventions did not influence the poor outcome of the recurrent ischemic insults.
Lupus 2000
PMID:Systemic lupus erythematosus associated with moyamoya syndrome. 1103 39

We report on a 13-year-old female with systemic lupus erythematosus (SLE) who exhibited symptoms of severe migraine and familial moyamoya disease. Cerebral magnetic resonance angiography (MRA) showed stenosis and occlusion of the bilateral internal carotid arteries associated with the development of collateral circulation (moyamoya vessels). In a child, as in this case, headaches with cerebral infarction associated with moyamoya disease are unusual. Few cases of SLE associated with familial moyamoya disease have been reported, with no previous reports of such cases from Korea. There were no evidences of antiphospholipid syndrome, and activity of SLE or other risk factors for cerebral occlusion were also absent.
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PMID:Systemic lupus erythematosus associated with familial moyamoya disease. 1471 35

A 12-year-old girl presented with a sudden decrease in her right visual acuity and homonymous hemianopsia. An angiography of the retinal arteries demonstrated recanalized occlusion of the right retinal artery. Cerebral angiography showed bilateral internal carotid artery stenosis associated with the development of collateral circulation. Laboratory evaluations revealed dual antineutrophil cytoplasmic antibodies (ANCA) positivity [anti-proteinase (anti-PR3) ANCA and anti-myeloperoxidase (anti-MPO) ANCA], anticardiolipin (aCL) antibodies, and low titers of antinuclear antibodies (ANA). There was no evidence of active systemic lupus erythematosus (SLE), ANCA-related vasculitis, or other risk factors for cerebral occlusion, such as antiphospholipid syndrome (APS). Dual positivity for both cytoplasmic (c-ANCA) and perinuclear (p-ANCA) antineutrophil antibodies has been found previously in a small number of reports, but to our knowledge, this case represents the first case of moyamoya disease associated with dual ANCA positivity.
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PMID:Dual anca positivity in a child with moyamoya-like cerebral vascular changes: an unusual presentation with sudden homonymous hemianopsia. 2186 49

Thrombosis in children is gaining increased awareness, as advanced medical care has increased treatment intensity of hospitalized pediatric patients. Guidelines for diagnosis and treatment of children and neonates with venous thromboembolism (VTE) are mostly extrapolated from adult data, despite the uniqueness of their hemostatic system. Whereas inherited thrombophilia (IT) have been established as risk factors for VTE in adults, in children with idiopathic VTE and in pediatric populations in which thromboses were associated with medical diseases, IT have been described as additional risk factors. Follow-up data for VTE recurrence in children suggest a recurrence rate between 3% (neonates) and 21% (idiopathic VTE). Apart from underlying medical conditions, recently reported systematic reviews on pediatric VTE and stroke have shown significant associations between thrombosis and presence of factor V G1691A, factor II G20210A, protein C-, protein S- and antithrombin deficiency, even more pronounced when combined IT were involved. The pooled odds ratios (OR: single IT) for VTE onset ranged from 2.4 for the factor II G20210A mutation (cerebrovascular occlusion) to 9.4 in children with antithrombin deficiency (venous VTE). In addition, the pooled OR for persistent antiphospholipid antibodies/lupus anticoagulants was 6.6 for children with cerebrovascular occlusion and 4.9 for pediatric cases with venous VTE. The factor II G20210A mutation (OR: 2.1), protein C- (OR: 2.4), S- (OR: 3.1), and antithrombin deficiency (OR: 3.0) did also play a significant role at recurrence. Among primarily asymptomatic family members of pediatric VTE index cases annual VTE incidences were 2.82% (95% confidence interval [95% CI], 1.63-4.80%) in carriers of antithrombin, protein C, or protein S-deficiency, 0.42% (0.12-0.53%) for factor II G202010A, 0.25% (0.12-0.53%) for factor V G1691A, and 0.10% (0.06-0.17%) in relatives with no IT. Based on these data diagnosis, screening and treatment issues will be discussed.
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PMID:Venous thromboembolism in neonates and children. 2295 49