A infecção por Shigella no período neonatal é muito rara, sendo o diagnóstico frequentemente difícil pela diversidade e inespecificidade dos sintomas.Apresenta-se um caso de infecção por Shigella no período neonatal, que se apresentou com letargia, recusa alimentar e distensão abdominal, seguidos mais tarde de diarreia com sangue.Apesar de arrastada, teve boa evolução.
Descreve-se o caso de um recém-nascido com atraso de crescimento intra-uterino e microcefalia. cuja mãe tinha fenilcetonúria (PKU), não controlada durante a gravidez. Chama-se a atenção para o possível aparecimento de futuros casos, em fenilcetonúrias que tenham abandonado o tratamento dietético ou que tenham nascido antes do início do rastreio neonatal sistemático da PKU.
Background: The high concordance rate of migraine in monozygotic twin pairs has long been recognised. In the current study, we present a monozygotic twin pair discordant for familial hemiplegic migraine (FHM). Case presentations: We evaluated 12 adult family members in 2012. The twin pair was separately examined by neurologists at different time points. Mutation screening was performed for known FHM-related gen...
Migraine is a common neurological episodic disorder with a female-to-male prevalence 3- to 4-fold higher, suggesting a possible X-linked genetic component. Our aims were to assess the role of common variants of gammaaminobutyric acid A receptor (GABAAR) genes, located in the X-chromosome, in migraine susceptibility and the possible interaction between them. An association study with 188 unrelated cases and 286 ...
Diabetes is associated with an increased risk for brain disorders, namely cognitive impairments associated with hippocampal dysfunction underlying diabetic encephalopathy. However, the impact of a prediabetic state on cognitive function is unknown. Therefore, we now investigated whether spatial learning and memory deficits and the underlying hippocampal dysfunction were already present in a prediabetic animal m...
Introduction: Nasal intermittent positive pressure ventilation (NIPPV) is a non invasive ventilation method that combines the benefits of nasal continuous positive airway pressure (NCPAP) and the cycles of positive pressure. Objectives: Description of the NIPPV experience in a neonatal intensive care unit. Methods: A descriptive study of newborns ventilated with NIPPV, from January 2002 to December 2008. Were c...
Abstract AIM: Our aim was to assess which specific factors are contributing to an increased risk of migraine in a group of 131 Portuguese families. METHODS: We studied 319 first-degree relatives, using a multilevel approach to account for the dependency among members from the same family. We included in the model relative's gender, the proband's gender and age-at-onset, to evaluate if any of these variables we...
Abstract BACKGROUND AND PURPOSE: Migraine is a common neurological disabling disorder, and anomalies of vascular function have been implied in its pathophysiology. Several findings point to a possible role of the endothelin receptor type A (EDNRA) in migraine. We aim to assess the involvement of endothelin receptor type A (EDNRA) in migraine susceptibility in a sample of Portuguese migraineurs. METHODS: Three...
Abstract OBJECTIVES: Migraine pathophysiology involves several pathways. Our aims were to explore a possible role of the brain-derived neurotrophic factor gene (BDNF) in migraine susceptibility; to study, for the first time, the calcitonin gene-related peptide gene (CGRP); and a possible interaction between the two. METHODS: Using a case-control approach, four tagging single nucleotide polymorphisms (SNPs) (r...
Abstract OBJECTIVE: To confirm syntaxin 1A as a risk factor for migraine, given that syntaxin 1A interacts with several factors in migraine pathophysiology. DESIGN: Case-control approach. SETTING: An outpatient clinic. PARTICIPANTS: In a sample of 188 migraineurs (111 without aura and 77 with aura) and 287 migraine-free controls, 3 tagging SNPs of STX1A (rs3793243, rs941298, and rs6951030) were analyzed. A b...
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