Prenatal Diagnosis, EarlyView.ABSTRACT Objective To develop and evaluate an animation for parents about prenatal sequencing. Methods A total of 428 participants who had been pregnant, or whose partner had been pregnant, in the past 24 months. Parents, patient organisation representatives and clinicians co‐designed the animation describing prenatal sequencing (pS). Participants were
Morgan Daniel +12 more
wiley +1 more source
Can Prenatal Ultrasound and Genetic Testing Reliably Exclude Non‐Isolated Clubfoot?
Prenatal Diagnosis, EarlyView.ABSTRACT Objective The aim of this study is to evaluate the efficacy of prenatal second trimester ultrasound in diagnosing isolated congenital clubfoot and to assess the role of prenatal genetic testing. Methods We conducted a retrospective cohort study in the North‐West region of the Netherlands with prenatally suspected clubfoot between 16 and 24 ...
Jana M. de Vries +7 more
wiley +1 more source
Retraction Notice - Early Identification of DMD in the Setting of West Syndrome. Child Neurology Open. [PDF]
Child Neurol Openeuropepmc +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
A Novel KMT2E Splicing Variant as a Cause of O'Donnell–Luria–Rodan Syndrome With West Syndrome: Expansion of the Phenotype and Genotype [PDF]
Qianyun Cai +7 more
openalex +1 more source
The ketogenic diet alters microbiome‐metabolome profiles to improve West syndrome therapy
Pediatric Investigation, EarlyView.The ketogenic diet alleviates West syndrome by reshaping gut microbiota (increasing Bacteroides, Parabacteroides, and reducing Escherichia and Bifidobacterium), and modulating metabolites—including anticonvulsant lipids (e.g., capric acid), suppressed harmful lipids (e.g., 2‐methylbutyroylcarnitine), and amino acids and analogs (e.g., 3‐sulfinoalanine)—
Gan Xie +5 more
wiley +1 more source
Indian Journal of Developmental & Behavioral Pediatrics (Official Journal of IAP Chapter of Neurodevelopmental Pediatrics)
openalex +1 more source
Mission de prospection pour l'élaboration de projets de recherche sur les arboviroses zoonotiques en Asie du Sud-Est. Rapport de mission du 22 août au 4 septembre 2010 [PDF]
, 2010 Chevalier, Véronique
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Proteomic and Lipidomic Profiling of Immune Cell‐Derived Subpopulations of Extracellular Vesicles
PROTEOMICS, EarlyView.ABSTRACT Extracellular vesicles (EVs) are heterogeneous and play important roles in intercellular communication, contributing to physiological and pathological processes. Since few markers currently exist to differentiate subtypes of EVs, this study aimed to determine proteomic and lipidomic differences among four EV subpopulations. Large and small EVs
Anna Lischnig +6 more
wiley +1 more source
PM&R, EarlyView.Abstract Climate‐driven disasters have disproportionate and often devastating consequences on individuals with disabilities. Warming ocean and air temperatures are fueling more extreme tropical cyclones, further endangering those living in at‐risk regions.
Mollie Andreae +4 more
wiley +1 more source