Results 141 to 150 of about 64,129 (312)

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

CUL3‐Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Pathogenic variants of the CUL3 gene are known to cause a neurodevelopmental disorder with a partially described prenatal phenotype. This study further characterizes and expands the spectrum of prenatal sonographic findings associated with the disorder to improve prenatal diagnosis and counseling.
Yoel Gofin, Tania Dery, Tamar Tenne, Racheli Goldfarb Yaacobi, Emilie Block, Marina Lifshitc Kalis, Hagar Mor‐Shaked, Liza Douiev‐Charpak, Rivka Birnbaum, Mordechai Shohat, Ofer Markovich, Debora Kidron, Rivka Sukenik‐Halevy   +12 more
wiley   +1 more source

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

Heart Rate Variability in Interatrial Septal Defect [PDF]

Novosti Khirurgii, 2017
O.L. Bockeria, K.A. Vulf, V.A. Shvartz
openaire   +1 more source

Hypertrophic Cardiomyopathy as a Key Feature of MRAS‐Related Noonan Syndrome: New Case and Comprehensive Literature Review

Prenatal Diagnosis, EarlyView.
ABSTRACT Noonan syndrome (NS) is a rare multisystemic condition among the RASopathy group, characterized by a broad phenotypic spectrum and genetic variability. It results from pathogenic variants in genes regulating the RAS/MAPK pathway, affecting cell proliferation and differentiation.
Romain Martineau, Constance Wells, Florent Fuchs, Sophie Collardeau‐Frachon, Valentin Ruault, Sophie Colomb, Jean‐Michel Faure, Caroline Bartholmot, Marie Vincenti, Benjamin Ganne, Marjolaine Willems   +10 more
wiley   +1 more source

Sympatho‐Excitation in Pulmonary Hypertension: The Potential Role of Pulmonary Arterial Baroreceptors: An Acute Physiologic Intervention Study

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, Ana L. C. Sayegh, Robert A. Lewis, Tanya J. McWilliams, Sasiharan Sithamparanathan, Julian F. R. Paton, James P. Fisher   +6 more
wiley   +1 more source

Unraveling Interband Hot‐Electron Transfer in Hydrogenated Au@Cu2O/TiO2 Heterostructure Nanocrystals for Enhanced Hydrogen Evolution

Small, EarlyView.
Hydrogenated Au@Cu2O/TiO2 nanocrystals with oxygen‐vacancy‐engineered heterostructures enable efficient hot‐electron transfer. A Z‐scheme heterojunction forms between TiO2 and Cu2O, suppressing electron‐hole recombination and leading to a hydrogen evolution rate of 9.3 mmol g−1 h−1, with AQYs of 2.5% at 650 nm and 0.8 % at 800 nm, extending activity ...
Tsai‐Te Wang, Shan‐Jen Yang, Sudhakar Narra, Rohit R Koli, Yu‐Ru Lin, Yi‐Dong Lin, Eric Wei‐Guang Diau, Yung‐Jung Hsu, Yan‐Gu Lin, Ming‐Chang Lin   +9 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, J. Steensberg, O. B. Petersen, H. Andersen, M. Barbosa, M. Christiansen, V. Gjørup, A. N. Jensen, K. Munk, K. Nyborg, A. W. Olesen, F. Ravn, L. Sperling, H. G. H. Thyregod, N. Vejlstrup, C. K. Ekelund   +15 more
wiley   +1 more source

Impact of socioeconomic status and remoteness of residence on pregnancy outcome in major congenital heart disease: mediation analysis

Ultrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective Increased remoteness of residence (RoR) and lower socioeconomic status (SES) negatively impact the rate and gestational age (GA) at the diagnosis of major congenital heart disease (mCHD). We examined the direct and indirect relationships of RoR from a tertiary fetal cardiology center and Chan SES index with the rate of termination of
S. Bennett, L. K. Hornberger, A. Kaur, D. Fruitman, L. G. Eckersley   +4 more
wiley   +1 more source

Involuntary Clozapine Treatment: A Systematic Review

Acta Psychiatrica Scandinavica, EarlyView.
ABSTRACT Introduction We aimed to synthesize the information relevant for clinical practice on involuntary clozapine treatment. Methods Articles were identified with MEDLINE, Web of Sciences and PsycINFO search from inception through September 2025 (PROSPERO database registration CRD420251234475).
Hélène Verdoux, Alexis Lepetit, Peter F. J. Schulte   +2 more
wiley   +1 more source