31 results match your criteria: "Health Research Institute Biodonostia[Affiliation]"

Introduction: Vitamin D deficiency (<20 ng/mL circulating levels) is a worldwide public health concern and pregnant women are especially vulnerable, affecting the health of the mother and the fetus. This study aims to evaluate the sociodemographic, lifestyle, and environmental determinants associated with circulating vitamin D levels in Spanish pregnant women.

Methods: We used data from the Spanish INMA ("Infancia y Medio Ambiente") prospective birth cohort study from the regions of Gipuzkoa, Sabadell, and Valencia.

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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

Genome Med

September 2023

Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Hospital Duran i Reynals, Gran Via 199, L'Hospitalet de Llobregat, Barcelona, 08908, Spain.

Background: Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there is still an urgent need for sensitive, fast algorithms to maximise WES/WGS diagnostic yield in rare disease patients. Most tools devoted to this aim take advantage of patient phenotype information for prioritization of genomic data, although are often limited by incomplete gene-phenotype knowledge stored in biomedical databases and a lack of proper benchmarking on real-world patient cohorts.

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Background: Early-life vitamin D deficiency may impair immune system development contributing to allergy and asthma onset. Findings from prospective studies are inconsistent.

Objective: To examine whether maternal and child vitamin D levels are associated with allergic and asthma-related symptoms throughout childhood in a Spanish birth cohort.

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Background: Inadequate sleep duration has been suggested as a chronic stressor associated with changes in telomere length (TL). This study aimed to explore the association between sleep duration and TL using the INMA birth cohort study data.

Methods: A total of 1014 children were included in this study (cross-sectional: 686; longitudinal: 872).

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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

Neurology

March 2022

From the Neurometabolic Diseases Laboratory (A.S., A.R.-P., E. Verdura, V.V.-S., M.R., S.F., L.P.-S., J.J.M., C.G., C.C., A.P.), Bellvitge Biomedical Research Institute (IDIBELL); Instituto de Salud Carlos III (ISCIII) (A.S., A.R.-P., E. Verdura, M.R., S.F., L.P.-S., J.J.M., C.G., R.A., M.O., A.G.-C., J.A., M.d.T., L.A.P.-J., A.M., A.P.) and Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M. Girós), Center for Biomedical Research on Rare Diseases (CIBERER); Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol (A.R.-P.), and Pediatric Neurology Research Group, Vall d'Hebron Research Institute (A.M.), and Pediatric Neurology Department, Vall d'Hebron University Hospital (M.d.T., A.M.), Universitat Autònoma de Barcelona; Neuromuscular Unit, Neurology Department (V.V.-S., C.C.), Hospital Universitari de Bellvitge and Hospitalet de Llobregat, Universitat de Barcelona; Institut de Recerca Pediàtrica (R.A., M.O., A.G.-C.) and Molecular and Genetics Medicine Section (J.A.), Hospital Sant Joan de Déu (IRP-HSJD), Barcelona; Pediatric Neurology Unit, Department of Pediatrics (M.E.Y., S.A.-A.), Navarra Health Service, Navarrabiomed Research Foundation; Departments of Neuropediatrics (I.M.) and Neurology (E.M.R., A.L.d.M.), Hospital Universitario Donostia; Biodonostia Health Research Institute (Biodonostia HRI) (I.M., E.M.R., A.L.d.M.); University of the Basque Country (UPV-EHU) (I.M., A.L.d.M.), San Sebastian; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED) (I.M., E.M.R., A.L.d.M.), Carlos III Health Institute, Madrid, Spain; Département de Médecine Translationnelle et Neurogénétique (C.R., J.L.M.), IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch; Laboratoire de Diagnostic Génétique (J.L.M.), Hôpitaux Universitaires de Strasbourg; Chaire de Génétique Humaine (J.L.M.), Collège de France, Illkirch; Complejo Asistencial Universitario de Burgos (D.C.); Department of Paediatric Neurology (C.S.-C.), Complejo Hospitalario Jaén; CNAG-CRG, Centre for Genomic Regulation (CRG) (S.B., M. Gut), Barcelona Institute of Science and Technology (BIST); Department of Pediatric Radiology (E. Vázquez), Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain; Pediatric Neurology (M.T.), Hospital Clínico San Borja Arriarán, Central Campus Universidad de Chile; Genetics Service (L.A.P.-J.), Hospital del Mar Research Institute (IMIM); Department of Experimental and Health Sciences (L.A.P.-J.), Universitat Pompeu Fabra, Barcelona; Department of Paediatric Neurology (L.G.G.-S.), Children's University Hospital Niño Jesús, Madrid; and Catalan Institution of Research and Advanced Studies (ICREA) (A.P.), Barcelona, Spain.

Background And Objectives: Genetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. We aimed to determine the clinical utility of singleton whole-exome sequencing and whole-genome sequencing (sWES-WGS) interpreted with a phenotype- and interactome-driven prioritization algorithm to diagnose GWMD while identifying novel phenotypes and candidate genes.

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Background: Findings and limitations of previous studies on persistent organic pollutants (POPs) and pancreatic cancer risk support conducting further research in prospective cohorts.

Methods: We conducted a prospective case-control study nested within the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort. Participants were 513 pancreatic cancer cases and 1020 matched controls.

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Inflammation provides a substrate for mechanisms that underlie the association of maternal diet during pregnancy with Attention Deficit-Hyperactivity Disorder (ADHD) symptoms in childhood. However, no previous study has quantified the proinflammatory potential of maternal diet as a risk factor for ADHD. Thus, we evaluated the association of maternal dietary inflammatory index (DII) scores during pregnancy with ADHD symptoms in 4-year-old children born in two Mediterranean regions.

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Shared DNA methylation signatures in childhood allergy: The MeDALL study.

J Allergy Clin Immunol

March 2021

Department of Pediatric Pulmonology and Pediatric Allergy, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; GRIAC Research Institute, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Background: Differential DNA methylation associated with allergy might provide novel insights into the shared or unique etiology of asthma, rhinitis, and eczema.

Objective: We sought to identify DNA methylation profiles associated with childhood allergy.

Methods: Within the European Mechanisms of the Development of Allergy (MeDALL) consortium, we performed an epigenome-wide association study of whole blood DNA methylation by using a cross-sectional design.

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Air pollution has been associated with adverse health effects across the life-course. Although underlying mechanisms are unclear, several studies suggested pollutant-induced changes in transcriptomic profiles. In this meta-analysis of transcriptome-wide association studies of 656 children and adolescents from three European cohorts participating in the MeDALL Consortium, we found two differentially expressed transcript clusters (FDR p < 0.

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Introduction: To date, the evidence for an association between perfluoroalkyl substances (PFAS) exposure and attention deficit and hyperactivity disorder (ADHD) is inconclusive.

Objective: We investigated the association between early life exposure to perfluorooctane sulfonate (PFOS) and perfluorooctanoic acid (PFOA), and ADHD in a collaborative study including nine European population-based studies, encompassing 4,826 mother-child pairs.

Methods: Concentrations of PFOS and PFOA were measured in maternal serum/plasma during pregnancy, or in breast milk, with different timing of sample collection in each cohort.

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Associations between air pollution and pediatric eczema, rhinoconjunctivitis and asthma: A meta-analysis of European birth cohorts.

Environ Int

March 2020

ISGlobal, Barcelona, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain; CIBER Epidemiología y Salud Pública (CIBERESP), Spain; INSERM, U1168, VIMA: Aging and Chronic Diseases, Epidemiological and Public Health Approaches, Villejuif, France; Université Versailles St-Quentin-en-Yvelines, UMR-S 1168, F-78180 Montigny le Bretonneux, France; Université Rennes, INSERM, EHESP, Irset (Institut de recherche en santé, environnement et travail) - UMR_S 1085, F-35000 Rennes, France.

Background: Uncertainly continues to exist regarding the role of air pollution on pediatric asthma and allergic conditions, especially as air pollution levels have started to decrease in recent decades.

Objective: We examined associations of long-term air pollution levels at the home address with pediatric eczema, rhinoconjunctivitis and asthma prevalences in five birth cohorts (BIB, EDEN, GASPII, RHEA and INMA) from seven areas in five European countries.

Methods: Current eczema, rhinoconjunctivitis and asthma were assessed in children aged four (N = 6527) and eight years (N = 2489).

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Prenatal exposure to organochlorine compounds and lung function during childhood.

Environ Int

October 2019

ISGlobal, Barcelona, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain; CIBER Epidemiología y Salud Pública (CIBERESP), Madrid, Spain. Electronic address:

Introduction: Prenatal exposure to organochlorine compounds (OCs) can increase the risk of reported respiratory symptoms in children. It remains unclear whether these compounds can also impact on lung function. We assessed the association between prenatal exposure to OCs and lung function during childhood.

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Background: Prenatal exposure to perfluoroalkyl substances (PFASs) has been associated with impaired immune and respiratory health during childhood but the evidence is inconsistent and limited for lung function. We studied the association between prenatal PFASs exposure and immune and respiratory health, including lung function, up to age 7 years in the Spanish INMA birth cohort study.

Methods: We assessed four PFASs in maternal plasma samples collected during the 1st trimester of pregnancy (years: 2003-2008): perfluorohexane sulfonate (PFHxS), perfluorooctane sulfonate (PFOS), perfluorooctanoate (PFOA), and perfluorononanoate (PFNA).

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Background: The urban exposome is the set of environmental factors that are experienced in the outdoor urban environment and that may influence child development.

Objective: The authors' goal was to describe the urban exposome among European pregnant women and understand its socioeconomic determinants.

Methods: Using geographic information systems, remote sensing and spatio-temporal modeling we estimated exposure during pregnancy to 28 environmental indicators in almost 30,000 women from six population-based birth cohorts, in nine urban areas from across Europe.

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DNA methylation in childhood asthma: an epigenome-wide meta-analysis.

Lancet Respir Med

May 2018

GRIAC research institute Groningen, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; Department of Pediatric Pulmonology and Pediatric Allergy, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Electronic address:

Background: DNA methylation profiles associated with childhood asthma might provide novel insights into disease pathogenesis. We did an epigenome-wide association study to assess methylation profiles associated with childhood asthma.

Methods: We did a large-scale epigenome-wide association study (EWAS) within the Mechanisms of the Development of ALLergy (MeDALL) project.

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Background: The effect of mild-to-moderate maternal iodine deficiency on the neuropsychological development of their offspring is uncertain. We aimed to assess the association between iodine status during pregnancy and the cognitive and motor development of children at 4-5 years.

Methods: We conducted a prospective cohort study in four Spanish regions with recruitment of pregnant women between 2003 and 2008 and follow-up of their children up to 4-5 years (mean (SD)=4.

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Background: Prenatal mercury exposure has been related to reductions in anthropometry at birth. Levels of mercury have been reported as being relatively elevated in the Spanish population.

Objective: To investigate the relation between prenatal exposure to mercury and fetal growth.

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Background: Perfluoroalkyl substances (PFAS) may affect body mass index (BMI) and other components of cardiometabolic (CM) risk during childhood, but evidence is scarce and inconsistent.

Objectives: We estimated associations between prenatal PFAS exposures and outcomes relevant to cardiometabolic risk, including a composite CM-risk score.

Methods: We measured perfluorohexanesulfonic acid (PFHxS), perfluorooctanesulfonic acid (PFOS), perfluorooctanoic acid (PFOA), and perfluorononanoic acid (PFNA) in maternal plasma (first trimester).

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While there is evidence for variations in prevalence rates of childhood wheeze and asthma between countries, longitudinal, individual-level data are needed to understand these differences. The aim of this study was to examine variations in prevalence rates of childhood asthma, wheeze and wheeze with asthma in Europe. We analysed datasets from 10 MeDALL (Mechanisms of the Development of ALLergy) cohorts in eight countries, representing 26 663 children, to calculate prevalence rates of wheeze and asthma by child age and wheeze with asthma at age 4 years.

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The benefits of the use of folic acid supplements (FASs) during the periconception period to prevent neural tube defects and to ensure normal brain development in offspring are well known. There is concern, however, about the long-term effects of the maternal use of high dosages of FASs that exceed the Tolerable Upper Intake Level (UL) (≥1000 μg/d) on child neurocognitive outcomes. The objective of the study was to examine the association between the use of high dosages of FASs during pregnancy and child neuropsychological development at ages 4-5 y.

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Are Early Physical Activity and Sedentary Behaviors Related to Working Memory at 7 and 14 Years of Age?

J Pediatr

September 2017

ISGlobal, Center for Research in Environmental Epidemiology (CREAL), Barcelona, Spain; Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain; Pompeu Fabra University (UPF), Barcelona, Spain; Biomedical Research Networking Centres Epidemiology and Public Health (CIBERESP), Spain.

Objective: To evaluate the role of extracurricular physical activity and sedentary behavior at preschool and primary school age on working memory at primary school age and adolescence, respectively.

Study Design: This prospective study was based on a birth cohort across 4 Spanish regions. In the 3 younger subcohorts (n = 1093), parents reported lifestyle habits of child at age 4 years of age on a questionnaire, and children performed a computerized working memory task at 7 years of age.

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Prenatal mercury exposure and birth outcomes.

Environ Res

November 2016

Spanish Consortium for Research on Epidemiology and Public Health (CIBERESP), Spain; Epidemiology and Environmental Health Joint Research Unit, FISABIO-Universitat Jaume I-Universitat de València, Valencia, Spain.

Background: Results regarding the association between mercury exposure and anthropometry at birth, gestational length and placental weight are inconsistent, as is the role of seafood intake in these associations.

Objective: We assessed whether prenatal mercury exposure is associated with anthropometry at birth, placental weight and gestational length in a population with a relatively high exposure to mercury from seafood consumption.

Methods: Total mercury (T-Hg) was determined in cord blood from 1869 newborns with birth outcome measures, within the Spanish multicenter INMA cohort from 2004 to 2008.

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Objective: To assess the impact of passive and active tobacco smoke exposure, both pre- and postnatally, on child body mass index (BMI) and overweight.

Methods: Pregnant women were enrolled into the Spanish INMA prospective birth cohort during 1997 to 2008. Tobacco smoke exposure was assessed by questionnaire and corroborated by pre- and postnatal cotinine measurements.

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Exposure to ambient air pollution during pregnancy and preterm birth: A Spanish multicenter birth cohort study.

Environ Res

May 2016

Epidemiology and Environmental Health Joint Research Unit, FISABIO-Universitat Jaume I-Universitat de València, Avenida de Catalunya 21, 46020 Valencia, Spain; Spanish Consortium for Research on Epidemiology and Public Health (CIBERESP), Madrid, Spain.

Background And Objective: Preterm birth is a major determinant of infant mortality and morbidity. Air pollution has been suggested as a risk factor for preterm delivery; however, the scientific evidence on this impact remains inconsistent. We assessed the association between residential exposure to air pollution during pregnancy and preterm birth (gestational age at delivery <37 weeks) in Spain.

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Transfer of perfluoroalkyl substances from mother to fetus in a Spanish birth cohort.

Environ Res

October 2015

Centre for Research in Environmental Epidemiology (CREAL), Doctor Aiguader, 88, 08003 Barcelona, Catalonia, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain; CIBER Epidemiología y Salud Pública (CIBERESP), Spain.

Introduction: Prenatal exposure to perfluoroalkyl substances (PFAS) might affect child health; thus estimating PFAS fetal burden is relevant. PFAS fetal burden is best estimated in cord samples; previous studies have used either maternal plasma or serum during pregnancy as proxy, but their validity is not clear. We aimed to evaluate PFAS transfer between mother and fetus and determine its predictors in a Spanish birth cohort.

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