Results 101 to 110 of about 172,842 (307)

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Epidemiological study of congenital heart defects in children and adolescents: analysis of 4,538 cases

Arquivos Brasileiros de Cardiologia, 2003
OBJECTIVE: To analyze the frequency and prevalence of congenital heart defects in a tertiary care center for children with heart diseases. METHODS: We carried out an epidemiological assessment of the first medical visit of 4,538 children in a pediatric ...
Nelson Itiro Miyague, Silvia Meyer Cardoso, Fabrício Meyer, Frederico Thomaz Ultramari, Fábio Henrique Araújo, Igor Rozkowisk, Alisson Parrilha Toschi   +6 more
doaj   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Commentary: Fontan circulation with lymphatic failure: Was the Holy Grail finally found?Central Message

JTCVS Techniques, 2021
Eugen Sandica, MD
doaj   +1 more source

Changes and Trend Prediction in the Global Burden of Congenital Heart Defects, 1990-2021 [PDF]

Zhongguo quanke yixue
Background Congenital heart defects are a common congenital malformation, which is the main cause of death in children under 5 years old with birth defects in developed and developing countries.
ZHANG Bingqing, WANG Zhongkai, WU Changyong, SUN Huang, LI Ruijie, LIU Wenjie, LUO Yihua, ZHENG Lihui, PENG Yunzhu
doaj   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Prognostic value of right ventricular dyssynchrony in adults with repaired tetralogy of Fallot

Open Heart
Objective Residual sequelae after surgical repair of tetralogy of Fallot (rTOF) affect clinical outcome. We investigated the prognostic impact of right ventricular (RV) dyssynchrony in adults with rTOF years after the surgical repair.Methods Patients ...
Markus Schwerzmann, Matthias Greutmann, Daniel Tobler, Kerstin Wustmann, Andrea Papa, Clement Nussbaumer, Eleni Goulouti, Fabienne Schwitz   +7 more
doaj   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Real-time three-dimensional ultrasound : a valuable new tool in preoperative assessment of complex congenital cardiac disease [PDF]

, 2003
Evaluating complex cardiac defects in small children preoperatively requires multiple diagnostic procedures including echocardiography, and also invasive methods such as cardiac catheterisation, computer-tomography and magnetic resonance imaging.
Dalla Pozza, Robert, Kozlik-Feldmann, Rainer, Netz, Heinrich, Romer, U.   +3 more
core  

Animal models of chronic thromboembolic pulmonary hypertension

Animal Models and Experimental Medicine, EarlyView.
Current animal models of CTEPH. Created using BioRender.com. Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare, yet life‐threatening disorder characterized by persistent pulmonary vascular obstruction and elevated pulmonary artery pressure, with progressive remodeling and subsequent right heart failure.
Yong‐Jian Zhu, Lin‐Chao Zhou, Xiao‐Xue Zhang, Xiao‐Yang Ren, Yi Yan, Shao‐Fei Liu   +5 more
wiley   +1 more source