Longitudinal transcriptional immune profiles and persistent wheezing in moderate-to-late preterm infants.

Background: Prematurity is associated with an increased risk of persistent wheezing but the underlying mechanisms are not well defined. The aim of this study was to identify blood transcriptional profiles associated with the development of wheezing in a cohort of moderate to late preterm infants and to define immune gene expression changes associated with wheezing.

Materials And Methods: A convenience sample of a multicenter birth cohort (SAREPREM) of moderate-late preterm children followed during the first 3 years of life was analyzed.

Children interstitial lung disease: Assessment and management.

Diffuse parenchymal lung diseases or children interstitial lung disease (chILD) in pediatrics are a heterogenous group of more than 200 rare diseases with an incidence and prevalence around 8.2 and 46.4 cases/million, respectively, higher than previously recognized, probably related to a greater understanding and increased clinical awareness of these diseases.

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel Variant and Possible Modifier Gene.

We report a novel missense variant co-segregated with a familial X-linked retinitis pigmentosa (XLRP) case. The brothers were hemizygous for this variant, but only the proband presented with primary ciliary dyskinesia (PCD). Thus, we aimed to elucidate the role of the variant and other modifier genes in the phenotypic variability observed in the family and its impact on motile cilia.

Arrangement of residence before hospital discharge for children on home-invasive mechanical ventilation.

Children on long-term home mechanical ventilation are a growing population due to clinical and technological advances and the benefit for the child's quality of life. Invasive home ventilation is one of the most complex therapies offered in the home setting, requiring adequate home environment and appropriate equipment and supplies before discharge. The transition from hospital to home represents a vulnerable period that can be facilitated with an established transition plan with multidisciplinary team involvement.

The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN.

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by impaired mucociliary clearance leading to irreversible lung damage. In contrast to other rare lung diseases like cystic fibrosis (CF), there are only few clinical trials and limited evidence-based treatments. Management is mainly based on expert opinions and treatment is challenging due to a wide range of clinical manifestations and disease severity.

Incidence and Prevalence of Children's Diffuse Lung Disease in Spain.

Background: Children's diffuse lung disease, also known as children's Interstitial Lung Diseases (chILD), are a heterogeneous group of rare diseases with relevant morbidity and mortality, which diagnosis and classification are very complex. Epidemiological data are scarce. The aim of this study was to analyse incidence and prevalence of chILD in Spain.

[50 years of the Neonatal Screening Program in Catalonia.].

The Catalonian Newborn Screening Program (CNSP) began in 1969, in Barcelona. It was promoted by Dr. Juan Sabater Tobella and supported by Barcelona Provincial Council and Juan March Foundation.

Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.

Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a technique to improve understanding of disease-causing genes and diagnosis rate in PCD. The objective of this study is to determine the accuracy of a panel of four fluorescently labeled antibodies (DNAH5, DNALI1, GAS8 and RSPH4A or RSPH9) as a PCD diagnostic tool in the absence of transmission electron microscopy analysis.

Recurrent wheezing during the first 3 years of life in a birth cohort of moderate-to-late preterm infants.

Background: Data addressing short- and long-term respiratory morbidity in moderate-late preterm infants are limited. We aim to determine the incidence of recurrent wheezing and associated risk and protective factors in these infants during the first 3 years of life.

Methods: Prospective, multicenter birth cohort study of infants born at 32 to 35  weeks' gestation and followed for 3 years to assess the incidence of physician-diagnosed recurrent wheezing.

Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study.

Introduction: Pulmonary interstitial glycogenosis (PIG) is a rare infant interstitial lung disease characterized by an increase in the number of interstitial mesenchymal cells, presenting as enhanced cytoplasmic glycogen, and is considered to represent the expression of an underlying lung development disorder.

Methods: This study describes the clinical, radiological, and functional characteristics and long-term outcomes (median 12 years) of nine infants diagnosed with isolated PIG associated with alveolar simplification in the absence of other diseases.

Results: All patients presented with tachypnea.

Validation of Global Lung Function Initiative and All Ages Reference Equations for Forced Spirometry in Healthy Spanish Preschoolers.

Introduction: Recent publication of multi-ethnic spirometry reference equations for subjects aged from 3-95 years aim to avoid age-related discontinuities and provide a worldwide standard for interpreting spirometric test results.

Objectives: To assess the agreement of the Global Lung Function Initiative (GLI-2012) and All ages (FEV) reference equations with the Spanish preschool lung function data. To verify the appropriateness of these reference values for clinical use in Spanish preschool children.

[Pulmonary hypoplasia: An analysis of cases over a 20-year period].

Introduction: Pulmonary hypoplasia is the most frequent congenital anomaly associated with perinatal mortality.

Material And Methods: A retrospective and descriptive review was conducted on cases of patients diagnosed with pulmonary hypoplasia between 1995 and 2014 in a tertiary university hospital. An analysis was made of the prenatal imaging, clinical manifestations, post-natal diagnostic tests, treatment and management, long-term follow up, and survival data.

Risk factors for bronchiolitis, recurrent wheezing, and related hospitalization in preterm infants during the first year of life.

Background: Airway diseases are highly prevalent in infants and cause significant morbidity. We aimed to determine the incidence and risk factors for respiratory morbidity in a Spanish cohort of moderate-to-late preterm (MLP) infants prospectively followed during their first year of life.

Methods: SAREPREM is a multicenter, prospective, longitudinal study.

Use of inhaled iloprost in children with pulmonary hypertension.

Pulmonary hypertension (PH) in children is a serious disorder, for which the major goal of treatment is to prevent progressive vascular remodeling, and improve clinical status and survival. Iloprost is approved for the treatment of PH in adults; however, few studies have evaluated its effects in children. The objective of this study is to analyze the long-term effects of inhaled iloprost treatment in children with PH.

[Bronchial hyperresponsiveness to methacholine in children under 4 years with recurrent bronchitis].

Objective: To evaluate bronchial hyperresponsiveness in children under 4 years of age with recurrent wheezing bronchitis, and to determine if its presence or absence can predict the subsequent progression to a transient or persistent wheezing bronchitis phenotype.

Population And Methods: A bronchial challenge test was performed with methacholine using a modified tidal volume method, without sedation in a group of patients from 8 to 47 months of age with recurrent wheezing bronchitis and a control group of healthy children. A decrease in oxygen saturation of ≥ 5% or an increase in respiration rate of >50% [PCwheeze (PCw)] was considered a positive response.