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)

A healthy 21-year-old primigravida presented for elective cesarean section. At 45 min after intrathecal (IT) injection of bupivacaine, morphine and fentanyl she developed dysphagia, right sided facial droop, ptosis and ulnar nerve weakness. This constellation of signs and symptoms resolved 2 h later. Based on the time course and laterality of her symptoms, as well as the pharmacologic properties of spinal opioids, we believe her symptoms can be attributed to the IT administration of fentanyl.
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PMID:Transient unilateral brachial plexopathy and partial Horner's syndrome following spinal anesthesia for cesarean section. 2480 73

Mutations in the dynamin-2 (DNM2) gene can cause autosomal dominant or sporadic centronuclear myopathy (CNM). We aimed to analyze the clinical, pathological and genetic characteristic of patients with DNM2-related CNM in China. We studied seven patients, all of whom underwent clinical examination, muscle biopsy, electromyography, and genetic tests. DNM2 gene analysis revealed two sporadic patients harboring the p.E368K mutation, two patients from one family carrying p.R369Q, one with p.R369W, one with p.R523G and one with compound heterozygous mutations of p.R522H and p.R718Q. In DNM2-related CNM, ptosis, ophthalmoplegia/paresis, and facial weakness are the frequently observed manifestations. However, among these seven patients, only one had bilateral ptosis; one, external ophthalmoplegia and one, facial weakness. Muscle biopsy showed that the percentage of muscle fibers with centrally located nuclei ranged from 67 to 93 %, all with radial sarcoplasmic strands. To date, five different CNM-related DNM2 mutations have been observed in China. Here, a patient with compound heterozygous DNM2 mutations was reported for the first time. Facial weakness, ptosis and ophthalmoplegia did not appear to be common in Chinese patients. This study on Chinese patients broadens the spectrum of DNM2-related CNM.
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PMID:Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China. 2550 59

A healthy 17-year-old boy with a high-functioning pervasive developmental disorder presented to the emergency department after having a 4-minute episode of seizure-like activity in the setting of presumed viral gastroenteritis. Within an hour of emergency department arrival, he developed a forehead-sparing facial droop, right-sided ptosis, and expressive aphasia, prompting stroke team assessment and urgent neuroimaging. Laboratory results later revealed a serum sodium of 119 mmol/L. Neurologic deficits self-resolved, and a full physical examination revealed diffuse abdominal tenderness in the lower abdomen with rebound tenderness in the right-lower quadrant. The patient was admitted to the PICU for electrolyte management and monitoring. A computed tomography (CT) scan of the abdomen obtained the following morning revealed the patient's final diagnosis.
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PMID:A 17-Year-Old Boy With High-Functioning Autism, Gastrointestinal Illness, and Seizures. 3054 28