Results 71 to 80 of about 36,422 (225)

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Prevalence of Breastfeeding in Infants With Down Syndrome: A Systematic Review and Meta‐Analysis

Acta Paediatrica, EarlyView.
ABSTRACT Aim To estimate the prevalence of breastfeeding—overall, exclusive, partial and depending on infants' age—in infants with Down syndrome, and to investigate associated factors. Methods A systematic literature search was conducted in Medline, Cochrane Library, Web of Science, Embase, CINAHL and SciELO up to 1 August 2024.
Mélina Balland, Julia Prillard, Irène Loras‐Duclaux, Caroline Giroudon, Amélie Zelmar, Damien Sanlaville, Mikail Nourredine   +6 more
wiley   +1 more source

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, EarlyView.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

Two case reports of fetal alcohol syndrome: broadening into the spectrum of cardiac disease to personalize and to improve clinical assessment

Italian Journal of Pediatrics, 2019
Background Fetal alcohol spectrum disorder (FASD) refers to a broad spectrum of disabilities, in infants and children, resulting from moderate to excessive prenatal alcohol exposure.
R. Onesimo, C. De Rose, A. B. Delogu, A. Battista, C. Leoni, S. Veltri, G. De Rosa, G. Zampino   +7 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

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

Mitral regurgitation and decompensated heart failure in a young pregnant pony mare: An aetiological challenge

Equine Veterinary Education, EarlyView.
Summary A 4‐year‐old, 6‐month pregnant, Welsh pony mare presented with severe acute clinical signs including depression, anorexia, pale mucous membranes, tachycardia with a grade 4/6 holosystolic murmur and moderate expiratory dyspnoea with diffuse wheezes. There was no evidence of placentitis or fetal distress.
M. F. David, L. Cannon, A. Tortereau, A. Thomas‐Cancian, I. Desjardins   +4 more
wiley   +1 more source

Chd4 and ThPOK cooperate to preserve structural and electrophysiological integrity of the adult heart through Sprr1a repression

The FEBS Journal, EarlyView.
Chd4/NuRD and ThPOK cooperate to maintain transcriptional repression and nuclear organization in adult cardiomyocytes. Chd4 loss reduces miR‐150‐5p, relieving repression of Sprr1a, while ThPOK loss further enhances Sprr1a activation, possibly through altered chromatin–lamina interactions.
Fadoua El Abdellaoui‐Soussi, Apolonia Novillo, Rocío Brea, Marta Ysbert, Lorena Cussó, Gonzalo Pizarro‐Sánchez, Manuel Desco, Iván Hernández, Ángel Luis Armesilla, Ignacio Pérez de Castro, Alicia R. Folgueras, Juan Miguel Redondo, Pablo Gómez‐del Arco   +12 more
wiley   +1 more source

Safety and Utility of Smartphone‐Based Heart Monitors in Pediatric Patients With Cardiovascular Implantable Electronic Devices

Journal of Cardiovascular Electrophysiology, EarlyView.
Smartphone heart monitors in pediatric CIEDs: A pilot study. Smartphone heart monitors did not induce EMI in children with CIEDs, enabling reliable heart rate measurement and accurate identification of ventricular non‐captures. ABSTRACT Background Portable heart monitors enable on‐demand electrocardiogram (ECG) recordings and enhance symptom‐rhythm ...
Chun‐Lok Ho, Sit‐Yee Kwok, Sabrina S. L. Tsao, Yiu‐Fai Cheung   +3 more
wiley   +1 more source

Holt-Oram Syndrome: A Rare Variant

Iranian Journal of Medical Sciences, 2017
Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects.
Binoy Shankar, Euden Bhutia, Dinesh Kumar, Sunil Kishore, Shakti Pad Das   +4 more
doaj