69 results match your criteria: "Center for Biomedical Research on Rare Diseases (CIBER-ER)[Affiliation]"

External validation of a non-invasive vaginal tool to assess the risk of intra-amniotic inflammation in pregnant women with preterm labor and intact membranes.

J Perinat Med

November 2024

BCNatal - Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clinic and Hospital Sant Joan de Déu), Institut Clínic de Ginecología, Obstetrícia I Neonatología, Fetal i+D Fetal Medicine Research Center, Barcelona, Spain.

Objectives: To prospectively validate the diagnostic performance of a non-invasive point-of-care tool (Rapid IAI System), including vaginal alpha-fetoprotein and interleukin-6, to predict the occurrence of intra-amniotic inflammation in a Spanish cohort of patients admitted with a diagnosis of preterm labor and intact membranes.

Methods: From 2017 to 2022, we prospectively evaluated a cohort of pregnant women diagnosed with preterm labor and intact membranes admitted below 34+0 weeks who underwent amniocentesis to rule-in/out intra-amniotic infection and/or inflammation. Vaginal sampling was performed at the time of amniocentesis or within 24-48 h.

View Article and Find Full Text PDF

Acupuncture before planned admission for induction of labor (ACUPUNT study): a randomized controlled trial.

Am J Obstet Gynecol MFM

October 2024

Maternal-Fetal Medicine Department (Zamora-Brito, Migliorelli, Solans-Oliva, Arranz-Betegón, Palacio), Institut Clínic de Ginecologia, Obstetrícia i Neonatologia, Hospital Clínic Barcelona. BCNatal (Barcelona Center for Maternal-Fetal and Neonatal Medicine). Barcelona, Spain; Universitat de Barcelona (Zamora-Brito, Arranz-Betegón, Palacio), Fundació de Recerca Clínic-IDIBAPS, Barcelona, Spain; Center for Biomedical Research on Rare Diseases (CIBER-ER) (Palacio), Institute of Health Carlos III (ISCIII), Madrid, Spain.

Background: The increase in the use of induction of labor is a worldwide phenomenon in the current management of labor and delivery in Western societies, with approximately one out of every 4 pregnancies undergoing this procedure This has led women to seek various methods for stimulation of the onset of labor. Some data suggest that the use of acupuncture for favoring spontaneous labor onset could reduce the number of inductions of labor procedures. However, good quality evidence in this respect is not yet available.

View Article and Find Full Text PDF

Introduction: The IMPACT BCN trial-a parallel-group randomized clinical trial where 1221 pregnant women at high risk for small-for-gestational age (SGA) newborns were randomly allocated at 19- to 23-week gestation into three groups: Mediterranean diet, Mindfulness-based Stress reduction or non-intervention-has demonstrated a positive effect of Mediterranean diet and Stress reduction in the prevention of SGA. However, the mechanism of action of these interventions remains still unclear. The aim of this study is to investigate the effect of Mediterranean diet and Stress reduction on placental volume and perfusion.

View Article and Find Full Text PDF
Article Synopsis
  • Dyskinetic disorders (-RD) are a set of neurodevelopmental and movement issues caused by gene variants, with dyskinetic crises characterized by sudden, intense abnormal movements that pose treatment challenges.
  • The study utilized a Delphi consensus method with international experts to create a framework on dyskinetic crises, covering definitions, triggers, diagnostic criteria, complications, and management strategies.
  • The consensus defined dyskinetic crises, noted potential triggers like stress and infections, suggested acute management options such as benzodiazepines, and stressed the need for better education for parents and caregivers to facilitate early recognition and intervention.
View Article and Find Full Text PDF

Background: Defects in GNAO1, the gene encoding the major neuronal G-protein Gαo, are related to neurodevelopmental disorders, epilepsy, and movement disorders. Nevertheless, there is a poor understanding of how molecular mechanisms explain the different phenotypes.

Objectives: We aimed to analyze the clinical phenotype and the molecular characterization of GNAO1-related disorders.

View Article and Find Full Text PDF

Intra-amniotic infection and/or inflammation is associated with fetal cardiac concentric hypertrophy and diastolic dysfunction in preterm labor and preterm prelabor rupture of membranes.

Am J Obstet Gynecol

June 2024

BCNatal - Barcelona Center for Maternal-Fetal and Neonatal Medicine, Hospital Clinic and Hospital Sant Joan de Déu, Institut Clínic de Ginecología, Obstetrícia I Neonatología, Fetal i+D Fetal Medicine Research Center, Barcelona, Spain; Fundació de Recerca Clínica Barcelona - Institut d'Investigacions Biomèdiques August Pi I Sunyer (IIS-FRCB-IDIBAPS), Universitat de Barcelona. Barcelona, Spain; Center for Biomedical Research on Rare Diseases (CIBER-ER), Instituto Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain. Electronic address:

Background: Preterm delivery is associated with cardiovascular remodeling and dysfunction in children and adults. However, it is unknown whether these effects are caused by the neonatal consequences of preterm birth or if these are already present in utero.

Objective: We evaluated fetal cardiac morphology and function in fetuses of mothers admitted for preterm labor or preterm prelabor rupture of membranes and the association of these changes with the presence of intra-amniotic infection and/or inflammation.

View Article and Find Full Text PDF

The role of acupuncture in the present approach to labor induction: a systematic review and meta-analysis.

Am J Obstet Gynecol MFM

February 2024

Maternal-Fetal Medicine Department, Institut Clínic de Ginecología, Obstetrícia I Neonatología, Hospital Clinic Barcelona, BCNatal (Barcelona Center for Maternal-Fetal and Neonatal Medicine), Spain (Ms Zamora-Brito and Solans-Oliva; Drs Arranz-Betegón and Palacio); Universitat de Barcelona, Fundació de Recerca Clínic-IDIBAPS, Barcelona, Spain (Ms Zamora-Brito; Drs Arranz-Betegón and Palacio); Center for Biomedical Research on Rare Diseases (CIBER-ER), Institute of Health Carlos III (ISCIII), Madrid, Spain (Dr Palacio).

Objective: This study aimed to evaluate the bibliographic references available on the contribution of acupuncture as a strategy to avoid labor induction and the methodology used; and explore the characteristics of the population and the results of the intervention in order to direct the design of future studies.

Data Source: A systematic search for publications between January 2000 and September 2023 of the CENTRAL, PubMed, CINAHL, SCOPUS, ClinicalTrials.gov, and EUDRACT databases was performed.

View Article and Find Full Text PDF

A multivariable prediction model for intra-amniotic infection in patients with preterm labor and intact membranes including a point of care system that measures amniotic fluid MMP-8.

J Perinat Med

February 2024

BCNatal - Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clinic and Hospital Sant Joan de Déu), Institut Clínic de Ginecología, Obstetrícia I Neonatología, Fetal i+D Fetal Medicine Research Center, Barcelona, Spain.

Objectives: Among patients with preterm labor and intact membranes (PTL), those with intra-amniotic infection (IAI) present the highest risk of adverse perinatal outcomes. Current identification of IAI, based on microbiological cultures and/or polymerase chain reaction amplification of the 16S ribosomal RNA gene, delay diagnosis and, consequently, antenatal management. The aim to of the study was to assess the performance of a multivariable prediction model for diagnosing IAI in patients with PTL below 34.

View Article and Find Full Text PDF

Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.

Ann Neurol

November 2023

Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, FL, USA.

Objective: GNAO1-related disorders (OMIM #615473 and #617493), caused by variants in the GNAO1 gene, are characterized by developmental delay or intellectual disability, hypotonia, movement disorders, and epilepsy. Neither a genotype-phenotype correlation nor a clear severity score have been established for this disorder. The objective of this prospective and retrospective observational study was to develop a severity score for GNAO1-related disorders, and to delineate the correlation between the underlying molecular mechanisms and clinical severity.

View Article and Find Full Text PDF

Introduction: Intrauterine growth restriction (IUGR) is a well-known cause of impaired neurodevelopment during life. In this study, we aimed to characterize alterations in neuronal development underlying IUGR and discover strategies to ameliorate adverse neurodevelopment effects by using a recently established rabbit in vitro neurosphere culture.

Methods: IUGR was surgically induced in pregnant rabbits by ligation of placental vessels in one uterine horn, while the contralateral horn remained unaffected for normal growth (control).

View Article and Find Full Text PDF

Application of the adverse outcome pathway to identify molecular changes in prenatal brain programming induced by IUGR: Discoveries after EGCG exposure.

Food Chem Toxicol

December 2022

Grup de Recerca en Toxicologia (GRET) i INSA-UB, Departament de Farmacologia, Toxicologia i Química Terapèutica, Facultat de Farmàcia i Ciències de l'Alimentació, Universitat de Barcelona, 08028, Barcelona, Spain. Electronic address:

Following a multi-disciplinary approach integrating information from several experimental models we have collected new evidence supporting, expanding and redesigning the AOP "Disrupted laminin/int-β1 interaction leading to decreased cognitive function". Investigations in vitro in rabbit and rat neurospheres and in vivo in mice exposed to EGCG (epigallocatechin-gallate) during neurodevelopment are combined with in vitro evaluations in neural progenitor cells overexpressing int-β1 and literature information from int-β1 deficiency models. We have discovered for the first time that neural progenitor cells from intrauterine growth restricted (IUGR) animals overexpress int-β1 at gene and protein level and due to this change in prenatal brain programming they respond differently than control neurospheres to the exposure of EGCG, a compound triggering neural progenitor cell migration alterations.

View Article and Find Full Text PDF

Protocols for the Evaluation of Neurodevelopmental Alterations in Rabbit Models and .

Front Toxicol

July 2022

BCNatal-Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Déu), Fetal i+D Fetal Medicine Research Center, IDIBAPS, University of Barcelona, Center for Biomedical Research on Rare Diseases (CIBER-ER), Barcelona, Spain.

Article Synopsis
  • - The rabbit model is increasingly valued in neurodevelopmental studies due to its closer resemblance to human brain development compared to rodents.
  • - The publication outlines 14 detailed protocols focusing on various toxicological endpoints to evaluate neurodevelopmental adverse effects in rabbits, spanning from the neonatal phase to long-term assessments.
  • - Each protocol includes expected control values, troubleshooting tips, and addresses techniques like neurosphere assays, behavioral tests, and neurohistopathological evaluations, making it a thorough resource for researchers.
View Article and Find Full Text PDF

Docosahexaenoic Acid and Melatonin Prevent Impaired Oligodendrogenesis Induced by Intrauterine Growth Restriction (IUGR).

Biomedicines

May 2022

Grup de Recerca en Toxicologia (GRET), INSA-UB and Toxicology Unit, Pharmacology, Toxicology and Therapeutical Chemistry Department, Faculty of Pharmacy, University of Barcelona, 08028 Barcelona, Spain.

In this study, our aims were to characterize oligodendrogenesis alterations in fetuses with intrauterine growth restriction (IUGR) and to find therapeutic strategies to prevent/treat them using a novel rabbit in vitro neurosphere culture. IUGR was surgically induced in one uterine horn of pregnant rabbits, while the contralateral horn served as a control. Neural progenitor cells (NPCs) were obtained from pup's whole brain and cultured as neurospheres mimicking the basic processes of brain development including migration and cell differentiation.

View Article and Find Full Text PDF

Background: Despite their clear lesser vulnerability to COVID-19, the extent by which children are susceptible to getting infected by SARS-CoV-2 and their capacity to transmit the infection to other people remains inadequately characterized. We aimed to evaluate the role of school reopening and the preventive strategies in place at schools in terms of overall risk for children and community transmission, by comparing transmission rates in children as detected by a COVID-19 surveillance platform in place in Catalonian Schools to the incidence at the community level.

Methods And Findings: Infections detected in Catalan schools during the entire first trimester of classes (September-December 2020) were analysed and compared with the ongoing community transmission and with the modelled predicted number of infections.

View Article and Find Full Text PDF

COVID-19 affects children to a lesser extent than adults but they can still get infected and transmit SARS-CoV-2 to their contacts. Field deployable non-invasive sensitive diagnostic techniques are needed to evaluate the infectivity dynamics of SARS-CoV-2 in pediatric populations and guide public health interventions, particularly if this population is not fully vaccinated. We evaluated the utility of high-throughput Luminex assays to quantify saliva IgM, IgA and IgG antibodies against five SARS-CoV-2 spike (S) and nucleocapsid (N) antigens in a contacts and infectivity longitudinal study in 122 individuals (52 children and 70 adults).

View Article and Find Full Text PDF

Fetal Diagnosis and Therapy: Farewell as Editor-in-Chief.

Fetal Diagn Ther

January 2022

ICGON and BCNatal, Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Deu), University of Barcelona, and Center for Biomedical Research on Rare Diseases (CIBER-ER), Barcelona, Spain.

View Article and Find Full Text PDF

Latency to delivery in physical examination-indicated cerclage in twins is similar to that in singleton pregnancies.

Int J Gynaecol Obstet

October 2022

Hospital Clínic - BCNatal (Barcelona Center for Fetal and Neonatal Medicine), Fetal i+D Fetal Medicine Research Center, IDIBAPS, University of Barcelona, Catalonia, Spain.

Objective: To compare latency to delivery and perinatal outcomes between twin and singleton pregnancies undergoing physical examination-indicated cerclage.

Methods: Retrospective observational study (2007-2017) of women who underwent physical examination-indicated cerclage at the Hospital Clinic of Barcelona. Primary outcomes were latency from cerclage to delivery and gestational age at delivery.

View Article and Find Full Text PDF

Background: Surveillance tools to estimate viral transmission dynamics in young populations are essential to guide recommendations for school opening and management during viral epidemics. Ideally, sensitive techniques are required to detect low viral load exposures among asymptomatic children. We aimed to estimate SARS-CoV-2 infection rates in children and adult populations in a school-like environment during the initial COVID-19 pandemic waves using an antibody-based field-deployable and non-invasive approach.

View Article and Find Full Text PDF

Phosphomannomutase 2 deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. PMM2-CDG patients develop chronic cerebellar atrophy as a neurological hallmark. However, other acute neurological phenomena such as stroke-like episodes (SLE), epilepsy, migraine, and cerebrovascular events, may also occur, and they are frequently the cause of disability and impaired quality of life.

View Article and Find Full Text PDF

Analysis of maturation features in fetal brain ultrasound via artificial intelligence for the estimation of gestational age.

Am J Obstet Gynecol MFM

November 2021

BCNatal, Barcelona Center for Maternal-Fetal and Neonatal Medicine, Fetal Medicine Research Center (Hospital Clínic and Hospital Sant Joan de Déu), Institut D'Investigacions Biomèdiques August Pi i Sunyer, University of Barcelona, Barcelona, Spain (Dr Burgos-Artizzu, Mr Coronado-Gutiérrez, and Drs Valenzuela-Alcaraz, Vellvé, Eixarch, Crispi, Bonet-Carne, Bennasar, and Gratacos); Institut D'Investigacions Biomèdiques August Pi i Sunyer, IDIBAPS, Barcelona, Spain (Drs Eixarch, Crispi, Bonet-Carne, Bennasar, and Gratacos); Center for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain (Drs Eixarch, Crispi, Bonet-Carne, and Gratacos).

Background: Optimal prenatal care relies on accurate gestational age dating. After the first trimester, the accuracy of current gestational age estimation methods diminishes with increasing gestational age. Considering that, in many countries, access to first trimester crown rump length is still difficult owing to late booking, infrequent access to prenatal care, and unavailability of early ultrasound examination, the development of accurate methods for gestational age estimation in the second and third trimester of pregnancy remains an unsolved challenge in fetal medicine.

View Article and Find Full Text PDF

Objective: To describe the maternal, neonatal and pregnancy characteristics related to inhibition of lactation (IL) with cabergoline.

Method: We assessed 20,965 occasions of breastfeeding initiation, according to data collected from obstetric records at the Hospital Clinic of Barcelona (Spain) between January 2011 and December 2017.

Results: IL decreased over the study period from 8.

View Article and Find Full Text PDF

Introduction: In this study, we aimed at quantifying placental concentrations of 22 chemical elements in small fetuses (SGA) as compared with normally grown fetuses (AGA), and to assess the relationship with Doppler markers of placental function.

Methods: Prospective cohort study, including 71 SGA fetuses (estimated fetal weight < 10th percentile) and 96 AGA fetuses (estimated fetal weight > 10th percentile), recruited in the third trimester of gestation. The placental concentration of 22 chemical elements was determined by inductively coupled plasma optical emission spectrophotometer (ICP-OES, ICAP 6500 Duo Thermo): aluminum (Al), beryllium (Be), bismuth (Bi), calcium (Ca), cadmium (Cd), cobalt (Co), chrome (Cr), copper (Cu), magnesium (Mg), manganese (Mn), molybdenum (Mo), nickel (Ni), phosphorus (P), lead (Pb), rubidium (Rb), sulfur (S), strontium (Sr), titanium (Ti), thallium (Tl), antimony (Sb), selenium (Se), and zinc (Zn).

View Article and Find Full Text PDF

Corpus callosum size by neurosonography in fetuses with congenital heart defect and relationship with expected pattern of brain oxygen supply.

Ultrasound Obstet Gynecol

February 2022

BCNatal-Fetal Medicine Research Center, Hospital Clínic and Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.

Objective: To evaluate corpus callosum (CC) size by neurosonography (NSG) in fetuses with an isolated major congenital heart defect (CHD) and explore the association of CC size with the expected pattern of in-utero oxygen supply to the brain.

Methods: A total of 56 fetuses with postnatally confirmed isolated major CHD and 56 gestational-age-matched controls were included. Fetuses with CHD were stratified into two categories according to the main expected pattern of cerebral arterial oxygen supply: Class A, moderately to severely reduced oxygen supply (left outflow tract obstruction and transposition of the great arteries) and Class B, near normal or mildly impaired oxygenated blood supply to the brain (other CHD).

View Article and Find Full Text PDF