Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004135 (ATM)
 13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ataxia telangiectasia (AT) is an inherited cerebellar degeneration syndrome often associated with immune deficiency, notably, lymphopenia, hypogammaglobulinemia, and cellular immune dysfunction. Although autoimmunity is a common feature of many congenital and acquired immune deficiencies, it has not generally been thought to be associated with AT. We report a 7-year-old boy with AT who developed acute idiopathic thrombocytopenic purpura while on subcutaneous immunoglobulin replacement therapy for hypogammaglobulinemia. He responded promptly to high-dose intravenous immunoglobulin. This case reinforces the notion that one must be observant for autoimmune hematologic conditions in any child with qualitative or quantitative deficiencies in cellular immunity.
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PMID:Idiopathic thrombocytopenic purpura in a boy with ataxia telangiectasia on immunoglobulin replacement therapy. 2005 73

Acute myocardial stretch elicits a biphasic increase in contractility: an immediate increase, known as Frank-Starling mechanism (FSM), followed by a progressive increase, regarded as slow force response (SFR). In this study, we characterized the contractile response to acute stretch from 92 to 100% Lmax in rabbit papillary muscles (n=86) under normoxic and ischemic conditions, and its modulation by angiotensin II signaling pathway. Under normoxia, the FSM was independent of Na(+)/H(+)-exchanger, reverse mode of Na(+)/Ca(2+)-exchanger (r-NCX), AT1 receptor, AT2 receptor and PKC. Regarding the SFR, it was mediated by AT1 receptor activation and its downstream effectors PKC, Na(+)/H(+)-exchanger and r-NCX. Ischemia negatively impacted on the FSM and abolished the SFR, with the muscles exhibiting a time-dependent decline in contractility. Under ischemic conditions, FSM was not influenced by AT1 and AT2 receptors or PKC activation. AT1 receptor antagonism rescued the progressive deterioration in contractility, an effect partially dependent on AT2 receptor activation.
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PMID:The effects of angiotensin II signaling pathway in the systolic response to acute stretch in the normal and ischemic myocardium. 2385 53