Results 61 to 70 of about 126,989 (259)

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Normal Coronary Artery Patient Presenting with Left Ventricular Aneurysm

Case Reports in Medicine, 2011
Left ventricular aneurysm (LVA) is one of the most important complications of myocardial infarction LVA is strictly defined as a distinct area of abnormal left ventricular diastolic contour with systolic dyskinesia or paradoxical bulging.
Hakan Altay, Cihan Altin, Ali Çoner, Haldun Muderrisoglu   +3 more
doaj   +1 more source

Gap junction reduction in cardiomyocytes following transforming growth factor- beta treatment and Trypanosoma cruzi infection [PDF]

, 2009
Gap junction connexin-43 (Cx43) molecules are responsible for electrical impulse conduction in the heart and are affected by transforming growth factor-beta (TGF-beta).
Becker, D, Burnstock, G, Coutinho-Silva, R, de Araujo-Jorge, TC, Feige, JJ, Higuchi, MD, Waghabi, MC   +6 more
core   +2 more sources

Long‐Term Outcomes of Reduced Intensity Conditioning Hematopoietic Stem Cell Transplantation for Systemic Sclerosis Patients with Impaired Cardiac Function

Arthritis &Rheumatology, Accepted Article.
Objective High intensity conditioning autologous hematopoietic stem cell transplantation (AHSCT) is standard of care for patients with advanced SSc. The role of reduced intensity conditioning (RIC) prior to AHSCT in this population remains unclear. We conducted this study to determine the long‐term outcomes of RIC AHSCT in SSc patients with cardiac ...
Yonatan Lean, Carrie Richardson, Anthony Esposito, Katy Bedjeti, George E. Georges   +4 more
wiley   +1 more source

Echocardiographic profile of patients with cardiomyopathy

Journal of Lumbini Medical College, 2018
Introduction: Cardiomyopathies represent a heterogeneous group of diseases that often lead to progressive heart failure with significant morbidity and mortality. Exact epidemiological data on cardiomyopathy in Nepal are lacking.
Jeevan Khanal, Tilchan Pandey, Krishna Godar   +2 more
doaj   +1 more source

Endomyocardial Fibrosis Associated With Hypereosinophilic Syndrome: Diagnostic and Management Insights From a Case Report

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Endomyocardial fibrosis (EMF) is a rare form of restrictive cardiomyopathy associated with eosinophilic disorders, characterized by apical subendocardial fibrosis and thrombus formation. Cardiac magnetic resonance (CMR) provides a comprehensive, noninvasive evaluation, enabling diagnosis, assessment of disease activity, and guidance of therapy.
Ibrahim Antoun, Benjamin Marrow, Ravi Pathmanathan, Sanjay S. Bhandari   +3 more
wiley   +1 more source

Wilms Tumor with dilated hypertensive cardiomyopathy, acute myocarditis, pulmonary edema, and heart failure

Urology Case Reports, 2020
An 11-month-old boy with unilateral Wilms tumor had an unusual presentation, with dilated hypertensive cardiomyopathy, acute myocarditis, pulmonary edema, and congestive heart failure secondary to the Wilms tumor and requiring intensive care.
Jae Min Chung, Sang Don Lee
doaj   +1 more source

Transcatheter Left Ventricular Restoration in Ischemic Heart Failure and Dilated Cardiomyopathy

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Ischemic heart disease is the leading global cause of death and frequently progresses to ischemic heart failure (IHF) after myocardial infarction through adverse left ventricular (LV)remodeling. Surgical LV restoration improves ventricular geometry and function but is limited by invasiveness and inconsistent outcomes.
Muhammad Mohid Haroon, Faizan Ahmad, Ramsha Ali, Saqlain Haider, Areehah Zafar Masood, Usama Yaseen, Taha Ahmad Zaka Ur Rehman, Muhammad Abdullah Sardar, Muhammad Umer, Shruthi Aswathappa, Muhammad Salman Sabri, Muhammad Muneeb Murtaza, Rubiya Ali, Sunny Kumar, Sameer Ali, Najam Gohar, Mohamed Bakr, Swapnil Patel, Mohammad A. Hussain, Fawaz Alenezi   +19 more
wiley   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Techniques for Identification of Left Ventricular Asynchrony for Cardiac Resynchronization Therapy in Heart Failure [PDF]

, 2005
The most recent treatment option of medically refractory heart failure includes cardiac resynchronization therapy (CRT) by biventricular pacing in selected patients in NYHA functional class III or IV heart failure. The widely used marker to indicate left
Peter, Schuster, Svein, Faerestrand
core