The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Background: The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood.

Aims: To evaluate the complex clinical phenotype of OAD and UCD patients at different ages.

Results: Acquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Background: The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorders (UCD) is variable; symptoms are often non-specific.

Aims/methods: To improve the knowledge about OAD and UCD the E-IMD consortium established a web-based patient registry.

Results: We registered 795 patients with OAD (n = 452) and UCD (n = 343), with ornithine transcarbamylase (OTC) deficiency (n = 196), glutaric aciduria type 1 (GA1; n = 150) and methylmalonic aciduria (MMA; n = 149) being the most frequent diseases.

A multinational study to compare prevalence of atopic dermatitis in the first year of life.

Background: Atopic dermatitis (AD) is common in childhood, with peak prevalence in early childhood. However, international comparisons of prevalence have focused on older children. We analysed differences in prevalence rates of AD and the associations with putative risk and protective factors, among infants in two European and two Central American countries.

Wheezing and risk factors in the first year of life in Cantabria, Spain. The EISL study.

Objectives: To determine the prevalence of wheezing during the first year of life in Cantabria, Spain and its associated risk factors.

Methodology: A cross-sectional, multicentre, descriptive epidemiological study was carried out in a representative sample of 958 infants in the first year of life, born in Cantabria. A previously validated and standardised written questionnaire was completed by the parents of infants seen between 12 and 15 months of age in the Primary Care Centres.

Pneumonia and wheezing in the first year: An international perspective.

Background: The relationship between pneumonia and recurrent wheezing (RW) and the factors associated to pneumonia in wheezing and non-wheezing infants have not been compared between affluent and non-affluent populations.

Methods: The International Study of Wheezing in Infants (EISL) is a large population-based cross-sectional study carried out in Latin America (LA) and Europe (EU). We used a validated questionnaire for identifying wheeze in the first year of life.

Does migration affect asthma, rhinoconjunctivitis and eczema prevalence? Global findings from the international study of asthma and allergies in childhood.

Background: Immigrants to Westernized countries adopt the prevalence of allergic diseases of native populations, yet no data are available on immigrants to low-income or low-disease prevalence countries. We investigated these questions using data from the International Study of Asthma and Allergies in Childhood.

Methods: Standardized questionnaires were completed by 13-14-year-old adolescents and by the parent/guardians of 6-7-year-old children.

Can meteorological factors forecast asthma exacerbation in a paediatric population?

Background: Asthma exacerbations attended in emergency departments show a marked seasonality in the paediatric age. This seasonal pattern can change from one population to another and the factors involved are poorly understood.

Objectives: To evaluate the association between meteorological factors and schooling with asthma exacerbations in children attended in the paediatric emergency department of a district hospital.

Pediatricians' attitudes and costs of bronchiolitis in the emergency department: a prospective multicentre study.

Background: How pediatricians manage bronchiolitis and the derived total costs (direct and indirect) in the emergency department (ED) have not been fully characterized. The aim of the present study is to calculate those costs in a European country.

Methods: A prospective and observational study, including 10 EDs of tertiary hospitals throughout Spain and during the bronchiolitis season 2010-2011, was performed.

Influence of Mediterranean diet on asthma in children: a systematic review and meta-analysis.

Background: There is epidemiological evidence that Mediterranean diet exposure is associated with lower asthma prevalence in children. We aimed to summarize the available data and to know whether the Mediterranean setting modifies this association.

Methods: The literature search, up to May 2012, was on epidemiological studies in the general population of children assessing whether adherence to Mediterranean diet (measured as a score) was associated with the prevalence of 'current wheeze'; 'current severe wheeze'; or 'asthma ever'.

Latitude modifies the effect size of factors related to recurrent wheeze in the first year of life.

Background: Although the association between latitude and asthma prevalence has been studied to a certain extent, its influence on the magnitude of the association of risk/protective factors with recurrent wheeze in infants has never been reported.

Methods: The adjusted odd ratios (aOR) of various risk/protective factors for recurrent wheeze from 31,920 infants from 19 centres of the "Estudio Internacional de Sibilacias en Lactantes" (EISL) in very different parts of the world were used to build a meta-regression using the strength of the aOR of each factor as dependent variable and centre latitude as explanatory variable. The meta-regression was further adjusted for continent.

Severe spinal cord injury in craniocervical dislocation. Case-based update.

Background: Craniocervical distraction injuries, including atlanto-axial dislocation (AAD) and atlanto-ocipital dislocation (AOD), are often associated with severe spinal cord involvement with high morbidity and mortality rates. Many patients with these injuries die at the accident scene, but advances in emergency resuscitation and transport permit that many patients arrive alive to hospitals.

Discussion: Children with craniocervical distraction injuries usually present with a severe cranioencephalic traumatism that is the most relevant lesion at admission.

Lung function among infants born preterm, with or without bronchopulmonary dysplasia.

Objective: Both healthy preterm infants and those with bronchopulmonary dysplasia (BPD) have poor lung function during childhood and adolescence, although there is no evidence whether prematurity alone explains the reduction in lung function found in BPD infants. Our study seeks to know if lung function, measured in infancy by means of rapid thoracic compression with raised volume technique, is different between preterm infants with and without BPD.

Methods: Lung function was measured in 43 preterm infants with BPD and in 32 preterm infants without BPD at a chronological age range of 2-28 months.

International study of wheezing in infants: risk factors in affluent and non-affluent countries during the first year of life.

Risk factors for wheezing during the first year of life (a major cause of respiratory morbidity worldwide) are poorly known in non-affluent countries. We studied and compared risk factors in infants living in affluent and non-affluent areas of the world. A population-based study was carried out in random samples of infants from centres in Latin America (LA) and Europe (EU).

The utility of sputum eosinophils and exhaled nitric oxide for monitoring asthma control with special attention to childhood asthma.

The monitoring of sputum eosinophils has received certain attention as a tool for improving asthma management both in children and in adults. The present paper reviews the technique and also the usefulness of induced sputum in the diagnosis and assessment of asthma, together with its ability to predict the response to treatment and to anticipate asthma exacerbations. Special attention is addressed to childhood asthma.

Meconium and neurotoxicants: searching for a prenatal exposure timing.

Background: Exposure to organochlorine compounds (OCs) has been a subject of interest in recent years, given their potential neurotoxicity. Meconium is easily available and accumulates neurotoxicants and/or metabolites from the 12th week of gestation.

Aims: To determine whether neurotoxicants, specifically OCs, could be detected in serially collected meconium, and to compare the results with those obtained in cord blood samples.