Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital myasthenic syndrome is difficult to diagnose, especially in the neonate when classic myasthenic signs may not be present. Congenital myasthenic syndrome with episodic apnea is a rare cause of recurrent apnea in infancy. We present an infant with nine severe episodes of apnea in her first 6 months who underwent a prolonged evaluation before ptosis was evident, leading to a diagnosis of choline acetyltransferase deficiency, a form of congenital myasthenic syndrome. Midazolam appeared to resolve the apnea on five occasions. The diagnosis was supported by edrophonium testing and repetitive nerve stimulation. Mutation analysis demonstrated compound heterozygous p.T354M and p.A557T mutations, the latter of which is novel. The patient's respiratory status stabilized on pyridostigmine, and she is ambulatory at age 3 years. Pyridostigmine is the primary therapy for choline acetyltransferase deficiency, but the efficacy of midazolam during this patient's episodes of apnea is interesting, and warrants further study.
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PMID:Congenital myasthenic syndrome with episodic apnea. 1952 Feb 74

Complete eversion and transurethral prolapse of the urinary bladder is rare. We report a case of complete eversion and prolapse of bladder that occurred due to self pulling out of an indwelling Foley catheter in a 72-year-old woman. She presented with retention of urine concurrent with complete uterine procidentia. An indwelling Foley catheter was given to relieve the retention. The senile lady pulled out the catheter resulting in complete transurethral prolapse with bladder eversion. Under injection Midazolam sedation and with application of xylocain jelly the prolapsed bladder could be reduced manually back through the urethra. Definite corrective surgery was done later for the uterine prolapse.
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PMID:Complete eversion and prolapse of bladder following pulling out of a Foley catheter concurrent with uterine prolapse. 1971 8