Results 51 to 60 of about 30,861 (299)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Independent prognostic value of high-risk ventricular premature complexes during exercise or recovery in asymptomatic patients: A meta-analysis of observational studies

Indian Heart Journal, 2023
Introduction: Ventricular premature contractions (VPCs) are a common finding during cardiac stress tests. The independent prognostic value of these findings in patients in asymptomatic patients is unclear.
Kartik Gupta, Sulmaz Zahedi, Tanya Singh Kakar, Akhilesh Khuttan, Rajat Kalra, Bryan M. Zweig   +5 more
doaj   +1 more source

Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations [PDF]

, 2016
Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disease caused by defective prelamin A processing, leading to nuclear lamina alterations, severe cardiovascular pathology, and premature death.
Benítez Iglesias, Raúl, Caballero, Ricardo, Cabello, Nuria, Calvo, Conrado J., González Gómez, Cristina, Gordon, Leslie B., Guadix, Juan A., Gúzman Martínez, Gabriela, Herraiz Martínez, Adela, Jiménez Borreguero, Luís J., Llach, Anna, López Otín, Carlos, Osorio, Fernando G., Riveras Torres, Jose, Vallmitjana Lees, Alexander   +14 more
core   +2 more sources

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

The Relationship between Depression Symptoms and Physical Activity in Children with Idiopathic Ventricular Extrasystoles

Medicina
Background and Objectives: Depression in childhood often co-occurs with anxiety disorders and a range of somatic symptoms. Recent studies have identified physical activity as a target for preventing the onset of depression.
Rita Kunigeliene, Odeta Kinciniene, Vytautas Usonis, Sigita Lesinskiene   +3 more
doaj   +1 more source

Ventricular tachycardia from intracardiac hematoma in the setting of blunt thoracic trauma

Indian Heart Journal, 2014
In the victims of motor vehicle accidents, unrecognized myocardial injuries may pose diagnostic and therapeutic challenges. Herein, we present a case of a 17-year-old man who developed multiple ventricular premature complexes and nonsustained ventricular
Amirreza Solhpour, Ijeoma Ananaba-Ekeruo, Nada B. Memon, Bharat K. Kantharia   +3 more
doaj   +1 more source

Incidence and predictors of premature ventricular complexes following catheter ablation for atrial fibrillation [PDF]

, 2017
BACKGROUND: Atrial fibrillation (AF) is the most common cardiac arrhythmia, and previous studies have focused on the epidemiology, mechanisms and risk factors for this global disease (Ryder and Benjamin 1999). Various studies have examined the mechanism,
Harvey, Joshua
core  

Efficacy of pimobendan in the prevention of congestive heart failure or sudden death in doberman pinschers with preclinical dilated cardiomyopathy (the PROTECT study) [PDF]

, 2012
<p>Background: The benefit of pimobendan in delaying the progression of preclinical dilated cardiomyopathy (DCM) in Dobermans is not reported.</p> <p>Hypothesis: That chronic oral administration of pimobendan to Dobermans with ...
Boswood, A., Braz-Ruivo, L., Culshaw, G.J., Dukes-McEwan, J., Estrada, A., French, A.T., Gordon, S.G., Loureiro, J., O'Grady, M.R., O'Sullivan, M.L., Oyama, M.A., Patteson, M., Smith, A., Summerfield, N.T., Watson, P.J., Willis, R.   +15 more
core   +3 more sources

Temporal Trends and Short‐ and Long‐Term Mortality of People With Acute Myocardial Infarction and Rheumatoid Arthritis: A Nationwide Cohort Study

Arthritis Care &Research, EarlyView.
Objective We investigated whether a diagnosis of rheumatoid arthritis (RA) affects the quality of inpatient acute myocardial infarction (AMI) care and long‐term mortality post‐AMI. Methods We analyzed data from 784,091 adults, 6,047 with a diagnosis of RA, from England and Wales hospitalized with AMI between 2005 and 2019 from the Myocardial Ischaemia ...
Megan Butler, Nicholas Weight, Muhammad Rashid, Rodrigo Bagur, Purvi Parwani, Samantha Hider, Edward Roddy, Robert Butler, Mamas A. Mamas   +8 more
wiley   +1 more source

Modern mapping and ablation of idiopathic outflow tract ventricular arrhythmias

Reviews in Cardiovascular Medicine, 2022
Outflow tract (OT) premature ventricular complexes (PVCs) are being recognized as a common and often troubling, clinical electrocardiographic finding. The OT areas consist of the Right Ventricular Outflow Tract (RVOT), the Left Ventricular Outflow Tract (
Stylianos Dragasis, Konstantinos Vlachos, Antonio Frontera, Panagiotis Mililis, Athanasios Saplaouras, Andromahi Zygouri, Maria Erato Zymatoura, Marianthi Kontonika, Nikolaos Kafkas, Michael Efremidis, Konstantinos P. Letsas   +10 more
doaj   +1 more source