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Novel ABCA3 mutations as a cause of respiratory distress in a term newborn

We report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.

Fração Exalada de Óxido Nítrico no Controlo e Abordagem Terapêutica da Asma

INTRODUCTION: Asthma is a chronic respiratory disease characterized by hyper-responsiveness and bronchial inflammation. The bronchial inflammation in these patients can be monitored by measuring the fractional exhaled nitric oxide. This study aims to determine fractional exhaled nitric oxide association with peak expiratory flow and with asthma control inferred by the Global Initiative for Asthma. MATERIAL AND ...

Novel ABCA3 mutations as a cause of respiratory distress in a term newborn

We report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.

A novel de novo deletion of chromosome 7 [46,XX,del(7)(p14.2 p15.1)] in a child...

The phenotype and severity of symptoms associated with deletions on chromosome 7 are directly proportional to the size of the deleted segment. Distal and interstitial deletions have been described in 40 cases. In this report the authors aim to report a child with a novel de novo interstitial deletion on chromosome 7, with the following karyotype: 46,XX,del(7)(p14.2 p15.1). We described a female, born at 38 week...

Tuberculose em idade pediátrica: características, incidência e distribuição geo...

A novel de novo deletion of chromosome 7 [46,XX,del(7)(p14.2 p15.1)] in a child...

The phenotype and severity of symptoms associated with deletions on chromosome 7 are directly proportional to the size of the deleted segment. Distal and interstitial deletions have been described in 40 cases. In this report the authors aim to report a child with a novel de novo interstitial deletion on chromosome 7, with the following karyotype: 46,XX,del(7)(p14.2 p15.1). We described a female, born at 38 week...

Tuberculose em idade pediátrica: características, incidência e distribuição geo...

The Alvarado score validation in diagnosing acute appendicitis in children at B...

Introduction: Acute appendicitis (AA) is the leading cause of emergency abdominal surgery in children. The diagnosis is essentially clinical, but some methodologies, such as Alvarado score (AS), have been developed in order to avoid non-therapeutic laparotomy (15-30%). AS = 5 or 6 is compatible with AA and is an indication for the patient to remain on observations, if AS = 7 a laparotomy procedure may be indica...

The Alvarado score validation in diagnosing acute appendicitis in children at B...

Introduction: Acute appendicitis (AA) is the leading cause of emergency abdominal surgery in children. The diagnosis is essentially clinical, but some methodologies, such as Alvarado score (AS), have been developed in order to avoid non-therapeutic laparotomy (15-30%). AS = 5 or 6 is compatible with AA and is an indication for the patient to remain on observations, if AS = 7 a laparotomy procedure may be indica...