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)

There is wide variation in the length of the Y chromosome. In the same individual the length varies continuously and is normally distributed. We describe a boy with borderline mental retardation, gross and fine motor coordination difficulty, muscle rigidity, ptosis, clinodactyly, and a Y chromosome of different lengths in two separate cell populations. The most probable explanation of the cytogenetic finding is a mitotic unequal sister chromatid exchange of the Y chromosome.
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PMID:Unequal mitotic sister chromatid exchange and different length of Y chromosomes. 385 66

Malignant hyperthermia is an autosomal dominant disorder with variable expressivity that is caused by a membrane defect in the sarcolemma of myofibrils. A patient with strabismus (esotropia) had tachycardia and masseter muscle rigidity on exposure to succinylcholine chloride and halothane, but because of rapid recognition of the condition and discontinuation of the procedure, the potentially lethal complications of malignant hyperthermia did not develop. A serum creatine phosphokinase level showed a substantial increase above normal. Two weeks later, the patient underwent successful correction of the strabismus under general anesthesia, using morphine sulfate and thiopental sodium without complication. This condition is of interest to ophthalmologists because it occurs with increasing frequency in patients with strabismus and ptosis, and it may be triggered by certain local anesthetic agents often used by ophthalmologists.
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PMID:Suspected malignant hyperthermia in a strabismus patient. A case report. 725 98

Experiments in rats showed that intrastriatal administration of kainic acid in a dose of 100 but not 20 ng per side resulted in the development of behavioral disorders reminding those of Parkinsonian syndrome: bradykinesia, increased muscle rigidity, ptosis. Intrastriatal administration of galanin in doses of 10 and 50 ng induced only a decrease of locomotor activity in the "open field". When co-administered with kainic acid (20 ng), galanin displayed a dose-dependent potentiation of behavioral Parkinsonian-like disturbances the severity of which increased depending on the dose used. It is concluded that galanin potentiates the kainic acid-induced development of the generator of pathologically enhanced excitation in the striatum underlying the mechanisms of Parkinsonian syndrome. Thus, the increased galaninergic striatal activity could participate in the mechanisms of the above-mentioned CNS disorders.
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PMID:[The effect of galanin on the experimental parkinsonian syndrome in rats induced by the intrastriatal administration of kainic acid]. 750 70

Transplantation of autologous sympathetic ganglion was performed in 35 patients with Parkinson's disease. Approximately half the patients showed improvement of parkinsonian symptoms over the 3 years following transplantation. The patients showed amelioration of bradykinesia and gait disturbance, but tremor and muscle rigidity were not improved by transplantation. The other half of the patients did not show amelioration after transplantation. No serious complications were encountered, though mild ptosis was observed in all patients. The mechanism of improvement of symptoms might be the release of dopamine from the grafted sympathetic ganglion. Transplantation of autologous sympathetic ganglion can be a therapeutic modality for Parkinson's disease.
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PMID:Transplantation of autologous sympathetic ganglion into the brain with Parkinson's disease. Long-term follow-up of 35 cases. 971 42

An 18 month-old girl was diagnosed as ventricular septal defect (VSD) with mild aortic valve prolapse. She underwent a closure of VSD. Intra-and early postoperative course was uneventful. However, 20 hours after surgery, sudden bradycardia led to cardiac arrest and strong muscle rigidity was seen. Hyperkalemia and metabolic acidosis rapidly progressed and resuscitation was failed. Extracorporeal life support and continuous hemodialysis were initiated, but the patient died with multiple organ failure on 5th postoperative day. Her clinical course supported the diagnosis of delayed onset malignant hyperthermia. Histopathological findings of muscle biopsy were consistent with rhabdomyolysis, and immunopathological stains demonstrated changes as in a Duchenne type muscular dystrophy carrier. Delayed onset malignant hyperthermia is an extremely rare complication of general anesthesia. We should be aware of this lethal condition, which occurs with a certain time lag after surgery, especially when the patient has possible background of myopathy.
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PMID:[Delayed onset malignant hyperthermia after a closure of ventricular septal defect]. 1577 37