9 documents found, page 1 of 1

Use of Therapeutic Hypothermia in Sudden Unexpected Postnatal Collapse: a Retro...

Introduction: Sudden and unexpected postnatal collapse is a rare event with potentially dramatic consequences. Intervention approaches are limited, but hypothermia has been considered after postnatal collapse. The aim of this study was to analyse sudden and unexpected postnatal collapse cases that underwent therapeutic hypothermia in the five Portuguese hypothermia centres. Material and methods: In this multice...

Phenotyping GABA transaminase deficiency: a case description and literature review

Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an autosomal recessive disorder reported in only three unrelated families. It is caused by mutations in the ABAT gene, which encodes 4-aminobutyrate transaminase, an enzyme of GABA catabolism and mitochondrial nucleoside salvage. We report the case of a boy, deceased at 12 months of age, with early-onset epileptic encephalopathy, severe psychomotor ret...

Doença Meningocócica Invasiva: Aplicação do Base Excess and Platelets Score num...

INTRODUCTION: Meningococcal infection has a high mortality and morbidity. Recently a new prognostic scoring system was developed for paediatric invasive meningococcal disease, based on platelet count and base excess â base excess and platelets score. The main objective of this study was to evaluate the accuracy of base excess and platelets score to predict mortality in children admitted to intensive care due to...

Necrose Gorda, uma Complicação de Hipotermia Induzida

A necrose gorda do tecido celular subcutâneo do recém-nascido está associada a asfixia neonatal, aspiração de mecónio, convulsões ou hipotermia. A hipercalcemia é a complicação mais frequente, podendo em alguns casos ser grave e exigir terapêutica específica. Relata-se o caso de um recém-nascido de cesariana emergente por sofrimento fetal, tendo sido submetido a protocolo de hipotermia induzida. Foi diagnostica...

MÓDULO 3 - 2º Curso de Formação para Internos 2013 - 2014: Neonatologia e Cuida...

Cuidados Paliativos Pediátricos: Relatório do Grupo de Trabalho do Gabinete do ...

A visão dos Cuidados Paliativos Pediátricos é assegurar que desde o diagnóstico todos os utentes em idade pediátrica (recém-nascidos, crianças e jovens) que vivem com uma doença crónica complexa, limitante ou ameaçadora da vida, e suas famílias, recebam cuidados que vão ao encontro das suas necessidades, desejos e preferências, até e para além da morte. Os princípios consensuais para a provisão de cuidados de q...

MÓDULO 3 - Neonatologia e Cuidados Intensivos Pediátricos

O sopro num coração normal

Innocent heart murmur is a frequent auscultatory finding in children. The diagnosis is essentially clinical, without need for further investigation. However, excluding heart disease can be a difficult task. This review article describes some features of medical history and physical examination that help in this differentiation. The role of diagnostic tests is also examined.

Schimke immuno-osseous dysplasia: case report and review of 25 patients

Immuno-osseous dysplasia is characterised by spondyloepiphyseal dysplasia, lymphopenia with defective cellular immunity, and progressive renal disease. We describe a patient with a severe form of the disease, review the features of another 24 patients, and discuss the previous classification. The differences between the two groups are not striking, and although similarities are greater between affected sibs, th...