Results 141 to 150 of about 172,801 (303)
Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype
Movement Disorders Clinical Practice, EarlyView.
Lisa Buikema +5 more
wiley +1 more source
Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois +5 more
wiley +1 more source
The Sooner, the Better: Neuroprotective Strategies in Fetuses With Congenital Heart Disease
Prenatal Diagnosis, EarlyView.ABSTRACT Congenital heart disease (CHD) is the most frequent congenital malformation at birth and is associated with neurodevelopmental impairments. Alterations in cardiovascular physiology can lead to reduced cerebral blood perfusion and oxygenation, which negatively affects brain growth and maturation.
Maaike Nijman +7 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To develop a consensus‐based framework to support individualized prenatal counselling for congenital diaphragmatic hernia. Method A RAND‐modified Delphi study was conducted with an expert panel of parents (n = 10) and healthcare professionals (n = 17) working in Dutch or Flemish CDH European Reference Network (ERN) centres.
Leonie Lof +12 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To present and evaluate the dynamic tongue contraction technique as a novel prenatal sonographic method for detecting soft palate clefts in fetuses with a cleft lip and palate (CLP) sequence. Methods This prospective cross‐sectional study was conducted at a tertiary care center between September 2023 and September 2024. Seven fetuses
Ettie Piura +6 more
wiley +1 more source
Pediatric Investigation, EarlyView.THBA (3α,6α,7α,12α‐Tetrahydroxy‐10β,13β‐pentanoic acid) administration can alleviate cholestatic liver injury, hepatocellular necrosis, inflammatory response, bile duct hyperplasia, and portal fibrosis in the Zfyve19−/− mouse model. This evaluation encompasses various parameters, including serum biochemistry, liver histology, immunostaining, and ...
Li Wang +8 more
wiley +1 more source
Respirology, EarlyView.Pulmonary arterial baroreceptors reflexively stimulate sympathetic nerve activity (SNA) in response to elevated pulmonary artery pressure and distension. In pulmonary hypertension patients, changes in muscle SNA were proportional to changes in pulmonary haemodynamics following nebulised iloprost.
Michael J. Plunkett +6 more
wiley +1 more source
Prenatal detection and outcome of major heart defects in a country with universal screening
Ultrasound in Obstetrics &Gynecology, EarlyView.ABSTRACT Objective To evaluate the Danish prenatal screening program for major fetal congenital heart defects (mCHD), focusing on incidence, detection rates (DRs), pregnancy outcomes and postnatal mortality. Methods This was a 5‐year nationwide cohort study conducted from January 2018 to December 2022 in Denmark.
C. Vedel +15 more
wiley +1 more source