Results 51 to 60 of about 16,514 (185)

Intrinsic myocardial defects underlie an Rbfox-deficient zebrafish model of hypoplastic left heart syndrome

Nature Communications, 2022
The developmental mechanisms responsible for the structural defects observed in hypoplastic left heart syndrome remain controversial. Using rbfox-deficient zebrafish, the authors implicate impaired cardiac function as a primary driver of disease.
Mengmeng Huang, Alexander A. Akerberg, Xiaoran Zhang, Haejin Yoon, Shakchhi Joshi, Celia Hallinan, Christopher Nguyen, William T. Pu, Marcia C. Haigis, C. Geoffrey Burns, Caroline E. Burns   +10 more
doaj   +1 more source

CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management. Data Sources PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.
Camille Caron, Massil Badji, Camille Prigent, Alix Pincivy, Erika Mercier, Mathieu Bergeron   +5 more
wiley   +1 more source

Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

eLife, 2020
Congenital heart diseases (CHDs), including hypoplastic left heart syndrome (HLHS), are genetically complex and poorly understood. Here, a multidisciplinary platform was established to functionally evaluate novel CHD gene candidates, based on whole ...
Jeanne L Theis, Georg Vogler, Maria A Missinato, Xing Li, Tanja Nielsen, Xin-Xin I Zeng, Almudena Martinez-Fernandez, Stanley M Walls, Anaïs Kervadec, James N Kezos, Katja Birker, Jared M Evans, Megan M O'Byrne, Zachary C Fogarty, André Terzic, Paul Grossfeld, Karen Ocorr, Timothy J Nelson, Timothy M Olson, Alexandre R Colas, Rolf Bodmer   +20 more
doaj   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Thoracic Abnormalities

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aims to identify the imaging findings specifically for thoracic anomalies in 1200 Micro‐CT cases, independent of whether the abnormality contributed to the main diagnosis or cause of death. Method We analyzed 1200 Micro‐CT scans in an unselected, consecutive cohort between 2017 and 2024 to identify thoracic anomalies ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Evaluation of systemic consequences of brachycephalic obstructive airway syndrome in dogs

Veterinary Record, EarlyView.
Abstract Background Brachycephalic obstructive airway syndrome (BOAS) results from upper airway anatomical abnormalities and may cause systemic effects depending on severity. Methods A prospective, case‒control and observational study was conducted.
Andréia Coutinho Facin, Ariadne Rein, Isabella de Almeida Fabris, Beatriz Gasser, Luiz Paulo Nogueira Aires, Bruna Bressianini Lima, Daniele Azevedo Gandra, Daniela Gomes da Silva, Ricardo Andrés Ramirez Uscategui, Gabriela Castro Lopes Evangelista, Marcus Antônio Rossi Feliciano, Paola Castro Moraes   +11 more
wiley   +1 more source

Current surgical options and outcomes for newborns with hypoplastic left heart syndrome

Anales de Pediatría (English Edition), 2019
Since the first successful palliation was performed by Norwood et al. in 1983, there have been substantial changes in diagnosis, management, and outcomes of hypoplastic left heart syndrome, Survival for stage 1 palliation has increased to 90% in many ...
Victor Bautista-Hernandez, Alejandro Avila-Alvarez, Gerald R. Marx, Pedro J. del Nido   +3 more
doaj   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

Generation of the maternal iPSC line NCHi030-A from an unaffected heterozygous NOTCH1 variant carrier in a family with hypoplastic left heart syndrome

Stem Cell Research
Mutations in the NOTCH1 gene are associated with a higher incidence of hypoplastic left heart syndrome (HLHS) in newborns. NCHi030-A is an iPSC line derived from peripheral blood mononuclear cells of the unaffected mother of a patient with hypoplastic ...
John Winbigler, Matthew Alonzo, Aaron Argall, Yang Yu, Ming-Tao Zhao   +4 more
doaj   +1 more source

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, EarlyView.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source