Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An analysis is presented of 35 cases of chorea as a symptom of polycythaemia. This analysis reveals: (a) whereas polycythaemia occurs predominantly in males (3:2), polycythaemic chorea (PC) occurs predominantly in females (5:2), at a real ratio of female:male = 4:1, the prevalence being 1-2.5% of polycythaemic patients; (b) PC manifests predominantly after the age of 50 (8 cases before, 27 after 50 years), making polycythaemia the first disorder to be considered in cases of so-called 'senile' chorea; (c) PC is generalised, with predominant involvement of faciolingual and brachial muscles, and associated with muscular hypotonia; (d) PC may last from periods of weeks to years, usually responds to haloperidol, venesection or 32P-treatment, but may persist, or recur with treatment, or remit spontaneously, and (e) no relationship exists between the choreatic syndrome and (the rare finding of) a small infarct in the caudate nucleus. The cause of the choreatic syndrome in polycythaemia is presumably to be explained as a neostriatal hyperviscosity syndrome producing venous stasis, reduced brain blood flow and impaired tissular O2/glucose metabolism. The state of dopaminergic hyperactivity is presumably enhanced by relatively increased neostriatal catecholestrogens. The hypothesis of polycythaemic excess of dopamine-laden platelets releasing excess of dopamine in the neostriatum needs to be confirmed by laboratory evidence of platelet counts.
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PMID:Chorea and polycythaemia. 637 Jul

Polycythemia vera is a sporadic myeloproliferative disorder of increased red blood cell mass affecting multiple organ systems. Associated thrombosis, hemorrhaging, and hyperviscosity commonly result in neurological manifestations, sometimes in the form of chorea and ballism. Resultant choreiform movements have been mainly described as generalized with orofaciolingual and appendicular muscle involvement, hypotonia, and hyporeflexia. Chorea has also been uncommonly reported as arising from secondary causes of polycythemia; however, the underlying pathophysiology has not been clearly elucidated. Proposed mechanisms for basal ganglia dysfunction include hypoperfusion due to venous stasis, receptor hypersensitivity in a setting of reduced catecholamine levels, and altered platelet dopamine metabolism. Magnetic resonance imaging and single-photon emission computed tomography perfusion studies have failed to reveal an anatomical or physiological basis for polycythemia vera-associated chorea, yet rare pathological examinations of deceased patients have shown signs of cerebral venous thrombosis and perivenous demyelination. Administration of neuroleptics may suppress abnormal choreiform movement; however, effective management of polycythemia vera requires serial venesections in conjunction with chemotherapy. Appropriate treatment may prolong survival to more than 10 years, although chorea may spontaneously remit, re-emerge with resurgence of disease, or continue indefinitely despite maintenance therapy.
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PMID:Polycythemia and chorea. 2149 86

Pregnancy is a normal physiological state that predisposes to thrombosis, determined by hormonal changes in the body. These changes occur in the blood flow (venous stasis), changes in the vascular wall (hypotonia, endothelial lesion) and changes in the coagulation factors (increased levels of factor VII, factor VIII, factor X, von Willebrand factor) and decreased activity levels of natural anticoagulants (protein C, protein S). In this study, we tried to determine a possible association between thrombosis and inherited thrombophilia in pregnant women. This is a retrospective study of 151 pregnant women with a history of complicated pregnancy: maternal thrombosis and placental vascular pathology (intrauterine growth restriction, preeclampsia, recurrent pregnancy loss), who were admitted in our hospital during the period January 2010 to July 2014. We performed genetic analyses to detect the factor V Leiden mutation, the G20210A mutation in the prothrombin gene, the C677T mutation and the A1298C mutation in methylenetetrahydrofolate reductase (MTHFR) gene. The risk of thrombosis in patients with factor V Leiden is 2.66 times higher than the patients negative for this mutation (OR 2.66 95% CI 0.96-7.37 P=0.059). We did not find any statistical association with mutations in the MTHFR gene. Pregnant women with a family history of thrombosis present a 2.18-fold higher risk of thrombosis (OR 2.18 CI 0.9-5.26 P=0.085). Of 151 pregnant women, thrombotic events occurred in 24 patients: deep vein thrombosis, pulmonary embolism, cerebral venous sinus thrombosis and ischemic stroke. The occurrence of thrombotic events was identified in the last trimester of pregnancy, but especially postpartum. Thrombosis in pregnancy is a redoubtable complication requiring an excellent cooperation between the obstetrician and anesthesiologist.
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PMID:Hereditary Thrombophilia and thrombotic events in pregnancy: single-center experience. 2571 24