598 resultados para Infancy


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Mode of access: Internet.

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Mode of access: Internet.

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"Songs" (with music): 10 p. at end.

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AIMS Hyperinsulinism of infancy (HI) is characterized by unregulated insulin secretion in the presence of hypoglycaemia, often resulting in brain damage. Pancreatic resection for control of hypoglycaemia is frequently resisted because of the risk of diabetes mellitus (DM). We investigated retrospectively 62 children with HI from nine Australian treatment centres born between 1972 and 1998, comparing endocrine and neurological outcome in 28 patients receiving medical therapy alone with 34 who required pancreatic resection to control their hypoglycaemia. METHODS History, treatment and clinical course were ascertained from file audit and interview. Risk of DM (hazard ratio) attributable to age at surgery (< vs. greater than or equal to 100 days at last pancreatectomy) and extent of resection (< vs. greater than or equal to 95%) were calculated using Cox proportional hazards regression and categorical variables compared by the chi(2) -test. Neurological outcome (normal, mild deficit or severe deficit) was derived from the most authoritative source. RESULTS Surgically treated patients had a greater birthweight, earlier presentation and higher plasma insulin levels. Of 18 infants < 100 days and 16 greater than or equal to 100 days of age at surgery, four (all greater than or equal to 100 days) became diabetic as an immediate consequence of surgery and five (two < 100 days and three greater than or equal to 100 days) became diabetic 7-18 years later. Surgery greater than or equal to 100 days and pancreatectomy greater than or equal to 95% were associated with development of diabetes (HR = 12.61, CI 1.53-104.07 and HR = 7.03, CI 1.43-34.58, respectively). Neurodevelopmental outcome was no different between the surgical and medical groups with 44% overall with neurological deficits. Patients euglycaemic within 35 days of the first symptom of hypoglycaemia (Group A) had a better neurodevelopmental outcome than those still hypoglycaemic > 35 days from first presentation (Group B) (P = 0.007). Prolonged hypoglycaemia in Group B was due either to delayed diagnosis or to need for repeat surgery because of continued hypoglycaemia. Within Group A, medically treated patients (who presented later with apparently milder disease) had a higher incidence of neurodevelopmental deficit (n = 15, four mild, three severe deficit) compared with surgically treated patients (n = 18, two mild, none severe deficit) (P < 0.025). CONCLUSIONS Poor neurodevelopmental outcome remains a major problem in hyperinsulinism of infancy. Risk of diabetes mellitus with pancreatectomy varies according to age at surgery and extent of resection. Patients presenting early with severe disease have a better neurodevelopmental outcome and lower risk of diabetes if they are treated with early extensive surgery.

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Lesch–Nyhan disease (LND) is a rare X-linked recessive genetic disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme. The classic clinical condition is characterized by cognitive impairment, hypotonia at rest, choreoathetosis, hyperuricaemia and the hallmark symptom of severe and involuntary self-mutilation. We describe a man with LND who was initially thought to have suffered from a dyskinetic cerebral palsy after an uncomplicated inguinal herniorrhaphy under general anaesthesia at 5 1/2 months of age. In the absence of overt self-injurious behaviour, the diagnosis was not considered for nearly two decades. The diagnosis of LND was established at 20 years of age through clinical review, biochemical examinations and molecular analysis. HPRT haemolysate activity was 7.6% of the normal control, suggesting that he had a milder variant of the disease. Mutation analysis of the HPRT gene revealed a novel missense mutation, c.449T > G in exon 6 (p.V150G). Cascade testing of family members revealed that the mother was heterozygous for the mutation but two siblings (a brother and a sister) did not carry the sequence mutation. Whether the onset of neurological abnormalities in this particular case can be attributed to the general anaesthesia is discussed.

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The 'season of birth' effect is one of the most consistently replicated associations in schizophrenia epidemiology. In contrast, the association between season of birth and development in the general Population is relatively poorly understood. The aim of this study was to explore the impact of season of birth on various anthropometric and neurocognitive variables from birth to age seven in a large, community-based birth cohort. A sample of white singleton infants born after 37 weeks gestation (n =22,123) was drawn from the US Collaborative Perinatal Project. Anthropometric variables (weight, head circumference, length/height) and various measures of neurocognitive development, were assessed at birth, 8 months, 4 and 7 years of age. Compared to surnmer/autumn born infants, winter/spring born infants were significantly longer at birth, and at age seven were significantly heavier, taller and had larger head circumference. Winter/spring born infants were achieving significantly higher scores on the Bayley Motor Score at 8 months, the Graham-Ernhart Block Test at age 4, the Wechsler Intelligence Performance and Full Scale scores at age 7, but had significantly lower scores on the Bender-Gestalt Test at age 7 years. Winter/spring birth, while associated with an increased risk of schizophrenia, is generally associated with superior outcomes with respect to physical and cognitive development. (c) 2005 Elsevier B.V. All rights reserved.