Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0232605 (regurgitation)
 8,217 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ductus arteriosus, and motor and mental retardation. The testes were descended. The 3 month old patient had delayed motor and mental development corresponding to a 1 month old infant.
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PMID:New dysmorphic features in Rubinstein-Taybi syndrome. 140

A 21-year-old white male with Rubinstein-Taybi syndrome (RTS) underwent emergency laparotomy and volvulus reduction for a strangulated ileus. Low blood pressure, rapid heart rate and dusky skin color indicated that he was in a hypovolemic and/or septic shock state. Communication with the patient was impossible because of severe mental retardation, deafness, and blindness, and he was quite combative and agitated. Because of an urgent situation and in anticipation of a great risk of regurgitation, no sedatives or anesthetics were used for induction of anesthesia. A large dose of vecuronium with a priming principle technique was the only agent used for endotracheal intubation. Vigorous fluid replacement and appropriate catecholamine therapy were required for the perioperative management and recovery from the shock state. Any cardiac episodes which have been reported in patients with RTS, such as supra-ventricular or ventricular arrhythmia, did not occur throughout the perioperative period. Lack of communication with the patient was an obstacle in the postoperative care, such as respiratory management or the estimation for the timing of extubation. In conclusion, the preparations for a possibly difficult airway and the possible occurrence of arrhythmia were thought to be prudent for the management of the patient with RTS.
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PMID:[Emergency operation and perioperative management for a patient with strangulated ileus and shock associated with Rubinstein-Taybi syndrome]. 793 9