Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We evaluated the neurodevelopmental status and cognitive ability of 30 school-age children with Marfan syndrome. We found average intellectual (mean full scale IQ = 109.3) and gross motor development. Fifty percent had one or more neuropsychologic deficits: learning disability (LD) (13%), attention deficit disorder with or without hyperactivity (ADD +/- H) (17%), neuromaturational immaturity (NMI) (10%), and a performance IQ score different from their verbal score by more than 20 points (30%). Patients with a large verbal-performance discrepancy, with one exception, scored lower on tests of performance, and particularly low on two subtests, object assembly and coding, compared with the rest of the patients (P less than 0.01). The factor most highly correlated with verbal-performance discrepancy was the severity of joint hypermobility (P = 0.02), which suggests that the depressed performance score was due, in part, to motor incoordination. Children with Marfan syndrome may be prone to neuropsychologic problems; the role of routine screening remains to be tested. Those with hand-wrist hypermobility seem at particular risk for difficulties with tasks that involve writing and should receive careful evaluation in the classroom. Due to the high risk of aortic dilatation in these patients, if stimulant medications are considered for treatment of ADD +/- H, the risk of adverse sympathomimetic effect should be weighed against the potential benefit.
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PMID:Marfan syndrome: neuropsychological aspects. 323 99

Spontaneous linear tears in the stomach of the newborn infant can be lethal. While the etiology of this problem is unknown, pneumatic rupture of the stomach seems to be the most logical explanation for the gastric tear. The mechanism is much like Boerhaave's syndrome, the stomach being the target organ. Tremendous intragastric pressures may result because of incoordination and immaturity of the vomiting mechanism in the infant. The perforation occurs characteristically within the first seven days of life. Mortality is high, and surgical intervention is urgent. Three such patients have been successfully managed during the past 15 years. These patients are presented in detail, and the esophageal motilities in two of the survivors are presented. Pressure studies with rupture of cadaver stomachs and esophagi of newborn infants and adults are also presented in an effort to better understand the pathogenesis of this gastric catastrophy. Discussion of the diagnosis and management is also included in the presentation.
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PMID:Spontaneous linear tears of the stomach in the newborn infant. 724 21