Diagnosing congenital cytomegalovirus infections using archived dried blood spots: A 15-year observational study, Portugal.

Background: Cytomegalovirus (CMV) is a leading cause of congenital infections. Dried blood spots (DBS) collected in the first week of life (Guthrie cards) have been used in the diagnosis of CMV infection outside the three-week window period following birth. The present work summarizes the results of a 15-year observational study in which DBS from 1388 children were used for a late diagnosis of congenital CMV infection.

Genomic imbalances defining novel intellectual disability associated loci.

Background: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic causes of neurodevelopmental disease, inferred from CNVs detected by array comparative hybridization (aCGH), in a cohort of 325 Portuguese patients with intellectual disability (ID).

Results: We have detected CNVs in 30.

The contribution of 7q33 copy number variations for intellectual disability.

Copy number variations (CNVs) at the 7q33 cytoband are very rarely described in the literature, and almost all of the cases comprise large deletions affecting more than just the q33 segment. We report seven patients (two families with two siblings and their affected mother and one unrelated patient) with neurodevelopmental delay associated with CNVs in 7q33 alone. All the patients presented mild to moderate intellectual disability (ID), dysmorphic features, and a behavioral phenotype characterized by aggressiveness and disinhibition.

Prevalence and clinical features of adverse food reactions in Portuguese children.

Background: The prevalence of adverse food reactions (AFR) has been increasing in the western world. Clinical manifestations are diversified and it may not be possible to clinically discriminate between IgE and non-IgE mediated AFR. In Portugal, the prevalence of AFR and food allergies in children is not known.

Off-label drug prescribing in a Portuguese paediatric emergency unit.

Background: Many drugs are prescribed outside the terms of the marketing authorization ("off-label"). Several studies have shown that this is a common practice in various European healthcare settings.

Objective: This study aimed to quantify and characterize off-label drug prescribing in children admitted to a Portuguese Paediatric Unit (PEU).

[Acute bronchiolitis: a prospective study].

Introduction: Bronchiolitis is the most common lower respiratory infection in children under 2 years old. Respiratory syncytial virus (RSV) is the most frequently involved etiologic agent.

Aims: To identify different viruses causing bronchiolitis and try to correlate them with demographic and clinical variables.

Prevalence of latex sensitization and allergy in Portuguese children.

The prevalence of latex allergy has been increasing not only in risk groups but also in the general population, where it is accepted to average 1%. In children, latex sensitization prevalence studies are scarce and involve different population sampling and allergy testing methods, which makes it difficult to compare across studies. Nevertheless, existing studies point towards a low prevalence of latex allergy in children, which still needs to be confirmed in the Portuguese population.