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Teresa Nunes José Paulo Monteiro José Carlos Ferreira Pedro Vilela 《European radiology》2009,19(10):2551-2554
L1 disease is the most common genetic cause of congenital hydrocephalus. Mutations in the L1CAM gene are associated with an overlapping clinical spectrum of four X-linked neurological conditions, characterized by hydrocephalus, mental retardation, lower limb spasticity and adducted thumbs. Brain anomalies are frequently present in L1 disease. We describe these anomalies by reporting a case of a male newborn presenting with congenital hydrocephalus along with corpus callosum agenesis and enlargement of the massa intermedia. These findings, in association with the presence of clasped thumbs, raised the suspicion of L1 disease, which was confirmed by the detection of a mutation in the L1CAM gene. In cases of congenital hydrocephalus, recognition of the brain anomalies associated with L1 disease may contribute to pursuing the genetic analysis needed for the diagnosis and genetic counseling. 相似文献
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The effect of zinc supplementation on the metabolism of tryptophan conversion to niacin was studied in 14 alcoholic patients with pellagra and in 7 male control subjects aged 21-45 y. The pellagrins received chemically defined diets based on crystalline amino acids through an enteral tube for 7 d. Patients were divided into two groups (A and B), both receiving a diet from which tryptophan, Zn, and niacin were excluded. Patients in group B, however, received 220 mg Zn sulfate orally. Upon admission the pellagra patients had low plasma Zn levels and low urinary excretion values of N'methylnicotinamide (N'MN) and N'methyl-2-pyridone-5-carboxamide (2-PYR) in relation to the control subjects (p less than 0.01). During the experimental period there was an increase in plasma Zn levels (p less than 0.005) and in urinary N'MN (p less than 0.05) and 2-PYR (p less than 0.05) excretion in the patients receiving Zn supplementation (group B). These results suggest that Zn interacts with niacin metabolism in alcoholic patients with pellagra through a probable mediation by vitamin B-6. 相似文献
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Deborah P Jones Carlos A Camargo Frank E Speizer R Graham Barr 《The Journal of asthma》2007,44(4):291-295
The authors tested the hypothesis that short stature predicts adult-onset asthma independent of obesity among women in the Nurses' Health Study. Height, weight, and physician-diagnosed asthma were assessed with validated questionnaire items. Proportional hazard models adjusted separately for weight and body mass index. The rate of newly diagnosed asthma was 1.55 times greater in the shortest versus the tallest quintile after adjustment for weight (95% CI, 1.26-1.91). After adjustment for body mass index, the rate ratio was 1.16 (95% CI, 0.94-1.42). Short stature predicted adult-onset asthma in a large cohort of women, but this association was not independent of obesity. 相似文献