Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Between 1979 and 1981, 67 infants weighing 1000 g or less at birth were admitted to the Hammersmith Hospital Neonatal Intensive Care Unit. 29 survived the neonatal period. Low acidosis score, without a metabolic component, was the most powerful predictor of survival. Other factors were gestational age, five-minute Apgar score, the need for ventilatory support, hypoxia, hypercapnia, pneumothorax, hypotension and the presence of a larger PVH. Of the 24 survivors followed up to three years of age, 11 were optimal, nine had some neurodevelopmental deficits and three had moderate functional handicap. Only one child has cerebral palsy and global mental retardation. Five-minute Apgar score and the presence of PDA correlated with normal outcome. None of the 20 obstetrical factors examined appeared to influence either survival or neurological outcome.
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PMID:Predictors for survival and normal neurodevelopmental outcome of infants weighing less than 1001 grams at birth. 384 Jul 54

Idiopathic congenital central alveolar hypoventilation syndrome, otherwise known as Ondine's curse, is a rare neuropathologic syndrome characterized by an inadequate respiratory drive with hypoventilation and periods of prolonged apnea resulting in hypercarbia and hypoxemia. Although no definite pathologic abnormality has been identified to account for the disorder, it is thought to represent a primary defect related to altered function of central chemoreceptors resulting in defective control of minute ventilation. Associated problems related to neural crest cell migration, including neuroblastoma formation and Hirschsprung's disease, suggest that the primary defect is defective neural crest cell migration and function. Problems that may impact on perioperative care include the defective central control of ventilation and defective control of upper respiratory musculature, which may lead to upper airway obstruction. Although many patients will have previously undergone tracheostomy and chronic mechanical ventilation, problems in other organ systems can impact on perioperative care. Cardiovascular issues include the possible presence of cor pulmonale and autonomic nervous system dysfunction. Central nervous system issues include the frequent occurrence of seizures and mental retardation. The preoperative work-up, premedication, and the intraoperative/postoperative care and monitoring of these patients is reviewed.
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PMID:Anesthetic care for the child with congenital central alveolar hypoventilation syndrome (Ondine's curse). 1052 17

A 36-year-old woman weighing 31.7 kg with mental retardation was scheduled for dental treatment under general anesthesia. She had undergone anticonvulsant therapy (phenytoin, clonazepam, zonisamide) for years. Standard monitors and bispectral index (BIS) monitor were applied except for an accelomyography. Anesthesia was induced with propofol and vecuronium, and maintained with nitrous oxide in oxygen, with 1.5-2.0% end-tidal concentration of sevoflurane. Forty minutes after induction of anesthesia, spontaneous respiration (SR) started suddenly despite adequate depth of anesthesia (BIS value 35-40). Vecuronium 1 mg was administered and SR stopped immediately. After the event, however, SR started repeatedly and then additional vecuronium was administered every 30-40 minutes to stop SR until the end of the treatment. During the treatment, no factors (hypercapnia, hypoxemia, hyperthermia and so on) to shorten the muscle relaxation were observed. The treatment finished uneventfully She became awake rapidly and extubated. Post-extubation period was also uneventful. In this case, chronic phenytoin therapy induced resistance to vecuronium was highly suspected; however, since clonazepam and zonisamide have elevation effects on blood concentration of phenytoin, they might be also cofactors in resistance to vecuronium. Therefore, patients undergoing chronic anticonvulsant therapy should be paid more attention because they have resistance to neuromuscular blocking drugs.
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PMID:[Resistance to vecuronium induced muscle relaxation in a patient with mental retardation receiving phenytoin for chronic anticonvulsant therapy]. 2134 54