Publications by authors named "Nuria Madureira"

This article has been withdrawn for editorial reasons because the journal will be published only in English. In order to avoid duplicated records, this article can be found at http://dx.doi.

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Introduction: Congenital central hypoventilation syndrome (CCHS) is a rare lifelong disorder characterized by an abnormal ventilatory response with persistent hypercapnia and hypoxia, which worsen during sleep. About 90 % of CCHS individuals are heterozygous for a mutation in the exon 3 of the PHOX2B gene. With higher awareness and better diagnostic tools, cases are identified in late childhood and adulthood, often with distinct mutations.

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Narcolepsy, a chronic disorder of the sleep-wake cycle of multifactorial etiology, is characterized by excessive daytime sleepiness, often associated with cataplexy, hypnagogic/hypnopompic hallucinations and sleep paralysis. Both early clinical suspicion and therapeutic approach are essential for promotion of cognitive development and social integration of these children. The authors present a descriptive retrospective study of a series of eight children in whom symptoms first started between 6.

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Introduction: Pompe disease or glycogen storage disease type II is an autosomal recessive disorder due to acid maltase deficiency. It is a rare disease with a prevalence of 1/40.000 in the dutch and african-american populations and 1/46000 in the australian population.

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Background: In the context of the National Health Youth Program, Department of Pediatrics of Santo André Hospital (SAH) has as one of its objectives to extend its age limit up to 18 years of age.

Objective: To evaluate adolescents' health needs followed up at SAH and to determine the impact of the proposed new age limit policy.

Methods: Retrospective descriptive study that included adolescents (10-18 years old) seen at the emergency department (ED), outpatients or admitted to the pediatric ward between 2000 and 2004.

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