Results 131 to 140 of about 2,016,730 (252)

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

Standardized Reporting of Cardiac Magnetic Resonance Examinations in Children With Cardiac Diseases and Adults With Congenital Heart Disease: A Scientific Statement From the Association for European Pediatric and Congenital Cardiology (AEPC) and the International Society for Magnetic Resonance in Medicine (ISMRM)

Journal of Magnetic Resonance Imaging, EarlyView.
Francesca Raimondi, Inga Voges, Lamia Ait‐Ali, Sonya Babu‐Narayan, Rene Botnar, Barbara Burkhardt, Adrienne Campbell‐Washburn, Dominik Daniel Gabbert, Georg Hansmann, Willem A. Helbing, Hasan Hosan, Sylvia Krupickova, Heiner Latus, Duarte Martins, Colin McMahon, Christian Meierhofer, Vivek Muthurangu, Tiina Ojala, Pim van Ooij, Claudia Prieto, Milan Prsa, Kuberan Pushparajah, José F. Rodríguez Palomares, Samir Sarikouch, Lars Grosse‐Wortman, F. Gerald Greil, Heynric Grotenhuis   +26 more
wiley   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Congenital Heart Disease : Molecular Genetics, Principles of Diagnosis and Treatment /

, 2015
This new book reviews the latest advances in the embryology, genetics, diagnosis, imaging, and therapy of congenital heart disease. The international cast of authors has combined its talents to produce a unique, expert perspective.
Muenke, M.
core  

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

Advances in the knowledge of the molecular and cellular bases of congenital heart diseases. Second of two parts: Congenital heart defects

CorSalud, 2019
Congenital heart defect is the most common birth defect in humans. We conducted a review of the medical literature with the aim of identifying the most recent advances in the knowledge of its molecular and cellular bases.
Noel Taboada Lugo
doaj  

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

Cutaneous eruption in neonate with congenital heart defect. [PDF]

JAAD Case Rep, 2022
Raman J, Wells A, Chung M, Saikaly SK, Bender N.   +4 more
europepmc   +1 more source

Fetal Brain Abnormalities in Trisomy 21 and Associated Neurodevelopmental Outcome: Key Factors to Identify Differences in Neurodevelopmental Outcome?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Trisomy 21 (T21) is associated with various neurological impairments. However, the mechanisms of fetal brain development in T21 and their impact on neurodevelopmental outcomes remain unclear, limiting prenatal counseling. Therefore, this study aims to assess neuropathological changes in fetuses with T21 and the associated ...
Christina Haberl, Pilar Palmrich, Eva Karner, Patric Kienast, Sarah Glatter, Florian Heinzl, Philipp Moser, Daniela Prayer, Gregor Kasprian, Julia Binder   +9 more
wiley   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source