Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0265264 (HOS)
 1,119 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypertrophic cardiomyopathy may be secondary to a mutation in the cardiac beta myosin heavy chain (14q11-q12), alpha tropomyosin (15q22), troponin T (1q32), protein C gene (11p11-q13) or in a non yet mapped gene. A X-linked dilated cardiomyopathy may be due to a mutation in the dystrophin gene (Xp21). The long QT syndrome may be secondary to a mutation in a potassium channel (7q35-36), an alpha subunit of the sodium channel gene (3p21) or in genes not yet identified (11p15.5, 4q25-q27). Marfan syndrome is associated to mutations in the fibrillin 1 gene (15q21.1) and a Marfan-like syndrome with not ocular anomalies was mapped to 3p24. Patients with Williams-Beuren syndrome have microdeletions in 7q11, whereas in the supravalvular aortic stenosis, the elastin gene which maps to the same region, is mutated. In Di George and Shprintzen syndromes but not in conotruncal malformations, microdeletions in 22q11 are observed. Heterotaxia can be transmitted by 3 types of mendelian inheritance (Xq24-q27.1). Finally, other diseases were mapped: Noonan and Holt-Oram syndromes (12q), isolated conduction blocks (19q13.3), arrhythmogenic right ventricular cardiomyopathy (14q23-q24), total anomalous pulmonary venous return (4p13-q12) and Osler-Weber-Rendu (9q33-q34.1, 3p22 and 12q1). In the near future, these incoming data will deeply modify the cardiovascular field.
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PMID:[Genetics of hereditary cardiopathies]. 875 72

Although the mechanism is unknown, infiltration anesthetics are believed to have membrane-stabilizing action. We report here that such a most commonly used anesthetic, lidocaine, effectively inhibited the invasive ability of human cancer (HT1080, HOS, and RPMI-7951) cells at concentrations used in surgical operations (5-20 mM). Ectodomain shedding of heparin-binding epidermal growth factor-like growth factor (HB-EGF) from the cell surface plays an important role in invasion by HT1080 cells. Lidocaine reduced the invasion ability of these cells by partly inhibiting the shedding of HB-EGF from the cell surface and modulation of intracellular Ca2+ concentration contributed to this action. The anesthetic action of lidocaine (sodium channel blocking ability) did not contribute to this anti-invasive action. In addition, lidocaine (5-30 mM), infiltrated around the inoculation site, inhibited pulmonary metastases of murine osteosarcoma (LM 8) cells in vivo. These data point to previously unrecognized beneficial actions of lidocaine and suggest that lidocaine might be an ideal infiltration anesthetic for surgical cancer operations.
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PMID:Infiltration anesthetic lidocaine inhibits cancer cell invasion by modulating ectodomain shedding of heparin-binding epidermal growth factor-like growth factor (HB-EGF). 1212 80