Characteristics of Adults With Congenital Heart Defects in the United States.
Journal of the American College of Cardiology, 2020 M. Gurvitz +13 more
semanticscholar +1 more source
Longest survivor of pulmonary atresia with ventricular septal defect without surgical intervention
ESC Heart Failure, Volume 12, Issue 2, Page 1499-1507, April 2025.
Sang Zhou +5 more
wiley +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Epilepsia Open, EarlyView.Abstract Objective Ketogenic diet therapies (KDTs) are increasingly used as a treatment for people with epilepsy of childbearing potential (PWECP) and glucose transporter type 1 deficiency syndrome (Glut1DS). The aim of this study was to collect information on clinical experience with KDT during pregnancy and lactation in these populations.
Kelly Faltersack +12 more
wiley +1 more source
Effects of Pax3 mutation and Neural Crest genetic ablation on congenital heart function and embryonic lethality [PDF]
, 2011 poster abstractCongenital heart defects (CHDs) occur in approximately one percent of births every year (American Heart Association, 2008). This makes it the most frequently occurring congenital defect in humans.
Chikaraishi, Dona M. +4 more
core
Nausea during Pregnancy and Congenital Heart Defects: A Population-based Case-Control Study [PDF]
, 1999 Roumiana S. Boneva +4 more
openalex +1 more source
New insights into applications of base editor in hereditary disorders
Interdisciplinary Medicine, EarlyView.Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai +8 more
wiley +1 more source
Resting coronary flow and coronary flow reserve in human infants after repair or palliation of congenital heart defects as measured by positron emission tomography [PDF]
, 1998 Jon Donnelly +6 more
openalex +1 more source
Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature
Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi +13 more
wiley +1 more source