Results 131 to 140 of about 307,700 (302)

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

Comparing outcomes after pulmonary vein isolation in patients with systolic and diastolic heart failure

Heart Rhythm O2
Background: The benefit of pulmonary vein isolation (PVI) in patients with atrial fibrillation (AF) and heart failure with reduced ejection fraction (HFrEF) is well established; its efficacy in patients with heart failure preserved ejection fraction ...
Ahmad B. Allaw, MD, Jeremy Treger, MD, PhD, Jia Guo, MD, Dipayon Roy, MD, Amulya Gampa, MD, Swati Rao, MD, Stephanie A. Besser, MSAS, Andrew D. Beaser, MD, Zaid Aziz, MD, Cevher Ozcan, MD, Srinath Yeshwant, MD, Gaurav A. Upadhyay, MD   +11 more
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

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

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Association between endothelial activation and stress index and 30-day mortality risk in acute myocardial infarction patients: a study based on the medical information mart for intensive care-IV database

BMC Cardiovascular Disorders
Objective This study aimed to evaluate the association between the Endothelial Activation and Stress Index (EASIX) and 30-day mortality risk in acute myocardial infarction (AMI) patients.
Mingmin Sang, Xiaofeng Ma, Fangyi Zhu, Cunkui Zhu, Zuohua Ying   +4 more
doaj   +1 more source

Continuous electrocardiogram monitoring in porcine model of myocardial ischemia reperfusion

Animal Models and Experimental Medicine, EarlyView.
Wearable technology for continuous electrocardiogram monitoring can be utilized in porcine models of disease. Abstract As cardiovascular disease is the leading cause of global mortality, innovative animal models are vital to demonstrating the translational value of experimental discoveries. Investigations focused on myocardial remodeling after ischemia
Nathaniel Hyams, Roxanne Swagel, Sharon Thomas, Rupak Mukherjee, Alicia Braxton Hickman, Daniel Eldridge, Kristine Helke, Ying Mei, Jean Marie Ruddy   +8 more
wiley   +1 more source

Establishment of a mouse model of TMAO‐induced cardiac injury and application of MICT intervention

Animal Models and Experimental Medicine, EarlyView.
This study aims to explore the establishment of an animal model of cardiac injury induced by trimethylamine‐N‐oxide (TMAO), a metabolite secreted by gut microorganisms, and to investigate its application in moderate‐intensity continuous training (MICT) intervention.
Zhongping Xie, Hong Zou, Lijing Gong, Minghui Lin, Caihua Huang   +4 more
wiley   +1 more source

Comparative Diagnostic Efficacy of HeartLogic and TriageHF Algorithms in Remote Monitoring of Heart Failure: A Cohort Study

Journal of Cardiovascular Development and Disease
Introduction: Implantable defibrillator devices (ICDs) can be used for remote monitoring of different variables, including some related to Heart Failure (HF).
David Ledesma Oloriz, Daniel García Iglesias, Rodrigo Ariel di Massa Pezzutti, Fernando López Iglesias, José Manuel Rubín López   +4 more
doaj   +1 more source

From armadillos to sloths: Patterns and variations in xenarthran coronary anatomy

The Anatomical Record, EarlyView.
Abstract Species of the superorder Xenarthra play a vital ecological role in the Neotropics. Despite their evolutionary significance, anatomical studies on their coronary circulation remain scarce. This study investigated the coronary anatomy of 82 hearts from nine Xenarthra species across the Dasypodidae, Myrmecophagidae, and Bradypodidae.
Wilson Viotto‐Souza, André Luiz Quagliatto Santos, Marcelo Abidu‐Figueiredo, Thaís Aparecida Silva, Rodrigo Ananias Barreiros Silva, Paulo de Souza‐Junior   +5 more
wiley   +1 more source