Results 161 to 170 of about 145,091 (327)

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts

Cell Proliferation, EarlyView.
FAM20A variants cause AI1G, marked by enamel defects, gingival overgrowth and ectopic calcifications. RNA sequencing of patient‐derived gingival fibroblasts showed dysregulated genes in adhesion, proliferation and signalling pathways. Functional assays revealed increased cell proliferation, impaired ECM interactions and osteogenesis, suggesting FAM20A ...
Kanokwan Sriwattanapong, Sermporn Thaweesapphithak, Chompak Khamwachirapitak, Pannagorn Sae‐ear, Sasiprapa Prommanee, Noppadol Sa‐Ard‐Iam, Suphalak Phothichailert, Han Sung Jung, Vorasuk Shotelersuk, Thantrira Porntaveetus   +9 more
wiley   +1 more source

Cost‐Utility Analysis of Left Bundle Branch Area Versus Biventricular Pacing for Cardiac Resynchronization Therapy: A Multicenter, Prospective, Quasi‐Experimental Study

Journal of Cardiovascular Electrophysiology, EarlyView.
Cost‐utility of LBBAP CRT versus BVP CRT. ABSTRACT Introduction Cardiac resynchronization therapy (CRT) is a well‐established treatment for patients with heart failure (HF). Recently, left bundle branch area pacing (LBBAP) has emerged as a more physiological alternative to biventricular pacing (BVP) for CRT.
José M. Sánchez‐Moreno, Leticia García‐Mochón, Manuel Molina‐Lerma, Guillermo Gutiérrez‐Ballesteros, Manuel Frutos‐López, Ricardo Pavón‐Jiménez, M. C. Olvera‐Porcel, Juan Jiménez‐Jáimez, Miguel Álvarez   +8 more
wiley   +1 more source

USP10 in Neurological Disorders: Mechanistic Insights and Emerging Therapeutic Strategies

Annals of the New York Academy of Sciences, EarlyView.
USP10 is a deubiquitinating enzyme that affects neurological diseases through multiple mechanisms, including the accumulation of toxic proteins, autophagy, and immune responses. In this review, we discuss the structure and characteristics of USP10 and summarize the role of USP10 in neurological disorders.
Celemuge, Hongying Sun, Jia Zhang, Yang Yang, Jian Mao, Cheliger   +5 more
wiley   +1 more source

An Unusual Case of 11αB‐Crystallin (CRYAB) Mutation as a Cause of Dilated Cardiomyopathy With Restrictive Physiology: A Case Report and Focused Review of the Literature

Clinical Case Reports
Several diseases have been linked to αB‐crystallin (CRYAB) mutation. However, this mutation is an uncommon cause that has been associated in recent years with the development of dilated cardiomyopathy.
Porras Bueno Cristian Orlando, Cruz Buitrago Roberto Hernando, Mariño Correa Alejandro, Cáceres Méndez Edward Andres, Eugenio Meek, Ríos Dueñas Edgar Giovanni   +5 more
doaj   +1 more source

Impact of Dental Status on Heart Transplantation Outcomes

Oral Diseases, EarlyView.
ABSTRACT Objective Oral infections and poor dental health may contribute to systemic complications after heart transplantation, yet data on their impact is limited. In the absence of standardized dental guidelines for transplant candidates, this study evaluated preoperative dental status and its association with post‐transplant outcomes.
Katharina Theresa Obermeier, Ina Dewenter, Maximilian Vorstandlechner, Maximilian Geyer, Wenko Smolka, Christine Kamla, Madeleine Orban, Christoph S. Mueller, Anusha Abdullah   +8 more
wiley   +1 more source

Mendelian Randomization Study on the Associations Between Genetically Predicted Cardiovascular Disease Subtypes and the Risk of Developing Cardiomyopathies

Clinical and Applied Thrombosis/Hemostasis
Cardiomyopathies are commonly believed to have genetic origins; however, the connection between cardiomyopathies and cardiovascular diseases remains uncertain.
Qiaolin Tang MD, Xiangzhu Meng MD, Xiaowen Tu MD, PhD, Jian Zhang MD   +3 more
doaj   +1 more source

Predictors of Atrial High‐Rate Episodes and Inappropriate Device Therapy in Implantable Cardioverter Defibrillators

Pacing and Clinical Electrophysiology, EarlyView.
ABSTRACT Background Implantable cardioverter defibrillator (ICD) therapy can prevent sudden cardiac death, but poses a risk of inappropriate device therapy (IDT), which is linked to worse outcomes and reduced quality of life. On the other hand, ICDs can function as an early warning system for atrial arrhythmias.
Marthe J. Huntelaar, Luuk H. G. A. Hopman, Anne‐Lotte C. J. van der Lingen, Mischa T. Rijnierse, Michiel J. B. Kemme, Cornelis P. Allaart, Vokko P. van Halm   +6 more
wiley   +1 more source

Efficacy and Safety of the Sync‐AV II Temporary Cardiac Pacing Catheter (EASY II Trial)

Pacing and Clinical Electrophysiology, EarlyView.
ABSTRACT Background Cardiac pacing is crucial for patients with hemodynamically unstable bradyarrhythmias. For most indications, transvenous pacemakers are used to pace the right ventricle, causing atrioventricular dyssynchrony, which may lead to significant hemodynamic compromise.
Som A. Bailey, Bertrand Ebner, Christian Marin y Kall, Jeffrey J. Goldberger, Santiago Gallo, Eduardo J. de Marchena   +5 more
wiley   +1 more source

Comparative study of troponin complex immunoreactivity at dilated and ischemic cardiomyopathies [PDF]

, 2000
Л. Л. Сидорик, O. M. Fedorkova, D. V. Ryabenko, V. I. Bobyk, V. M. Danilova, V. S. Tregubov, G. Kh. Matsuka   +6 more
openalex   +1 more source