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)

Perfusion of the abdomen is determined by cardiac function and circulation. Intestinal ischemia can be caused by Non occlusive bowel ischemia (NOD) that is important in internal as well as surgical intensive care medicine. Cardiac medication can influence perfusion of the bowel: 1) digitalis increases muscular tonus and decreases perfusion regulation b) diuretics lead to hypovolemia, hypotonia and malperfusion, c) antihypertensive medication can cause intraoperative hypotension that demands catecholamines, d) catecholamines can reduce perfusion by pathologic vasoconstriction in the splanchnicus area. Preoperative medication should respect 1) preoperatively taken ACE-inhibitors should be given postoperatively, as they have protective influence on the microcirculation of the bowel, 2) beta-blockers stabilize the myogenic tonus of the abdominal vessels, reduce an overshot of the parasympatheticus and diminish the risk of neurogenic abdominal shock, 3) catecholamines should be used with respect to ischemia of the bowel. Therapy of NOD should be focused on the primary vascular and hemodynamic causes and also take care for bacterial translocation and consecutive sepsis.
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PMID:[Influence of cardiac circulation and medication on the perfusion of the intestine]. 1596 73

Polyglutamine expansions in the transcriptional co-repressor Atrophin-1, encoded by ATN1, cause the neurodegenerative condition dentatorubral-pallidoluysian atrophy (DRPLA) via a proposed novel toxic gain of function. We present detailed phenotypic information on eight unrelated individuals who have de novo missense and insertion variants within a conserved 16-amino-acid "HX repeat" motif of ATN1. Each of the affected individuals has severe cognitive impairment and hypotonia, a recognizable facial gestalt, and variable congenital anomalies. However, they lack the progressive symptoms typical of DRPLA neurodegeneration. To distinguish this subset of affected individuals from the DRPLA diagnosis, we suggest using the term CHEDDA (congenital hypotonia, epilepsy, developmental delay, digit abnormalities) to classify the condition. CHEDDA-related variants alter the particular structural features of the HX repeat motif, suggesting that CHEDDA results from perturbation of the structural and functional integrity of the HX repeat. We found several non-homologous human genes containing similar motifs of eight to 10 HX repeat sequences, including RERE, where disruptive variants in this motif have also been linked to a separate condition that causes neurocognitive and congenital anomalies. These findings suggest that perturbation of the HX motif might explain other Mendelian human conditions.
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PMID:De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. 3092 40