Results 41 to 50 of about 1,408,582 (255)

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

Pre-procedural arrhythmia burden and the outcome of catheter ablation of idiopathic premature ventricular complexes. [PDF]

, 2021
BACKGROUND Radiofrequency catheter ablation of idiopathic premature ventricular complexes (PVCs) is an effective method for eliminating symptoms and preventing/reversing arrhythmia-induced cardiomyopathy.
Knecht, Sven, Thomas Küffer, Tanner, Hildegard, Tobias Reichlin, Sticherling, Christian, Jens Seiler, Servatius, Helge, Florian Spies, Christian Sticherling, Stefan Osswald, Küffer, Thomas, Samuel H. Baldinger, Baldinger, Samuel H., Sven Knecht, Badertscher, Patrick, Osswald, Stefan, Luc Bourquin, Antonio Madaffari, Patrick Badertscher, Hildegard Tanner, Reichlin, Tobias, Asatryan, Babken, Madaffari, Antonio, Laurent Roten, Kühne, Michael, Bourquin, Luc, Spies, Florian, Roten, Laurent, Michael Kühne, Babken Asatryan, Helge Servatius, Seiler, Jens   +31 more
core   +1 more source

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

Continuously Tested and Used QRS Detection Algorithm: Free Access to the MATLAB Code [PDF]

International Journal Bioautomation, 2019
Each ECG analysis begins with the detection of the QRS complex, which is the most distinguishable wave for initial investigation. Long ago we published an algorithm for ventricular beats (VB) detection in single ECG lead. The classification of normal QRS
Ivan Dotsinsky, Todor Stoyanov
doaj   +1 more source

Mechanical suppression of premature ventricular complexes during catheter ablation procedures

Indian Pacing and Electrophysiology Journal, 2021
Introduction: Mechanical suppression of premature ventricular complexes (PVCs) is not a well-known observation. We retrospectively reviewed this phenomenon in the Ventricular Arrhythmia (VA) ablation procedures performed at Richard L.
Rahul Jain, Mamta Barmeda, Rohit Jain, Jonathan Shirazi, John M. Miller   +4 more
doaj   +1 more source

Patient‐Derived 3D Heart‐On‐a‐Chip Model of Dilated Cardiomyopathy With Embedded Bead‐Based Mapping of Tissue Contractility

Advanced Healthcare Materials, EarlyView.
A heart‐on‐a‐chip model of dilated cardiomyopathy is developed from patient‐derived induced pluripotent stem cells. The model recapitulates key disease phenotypes and enables functional assessment through integrated bead‐based tracking and pillar deflection measurements.
Ali Mousavi, Ludovic Mouttet, Shihao Cui, Yasaman Hekmatnia, Mehran Mottahedi, Ida Derish, Naimeh Rafatian, Mark Aurousseau, Gregor Andelfinger, Renzo Cecere, Houman Savoji   +10 more
wiley   +1 more source

From Fiber Bundles to Architected Membranes: Triply Periodic Minimal Surface Architectures for Biohybrid Artificial Lungs

Advanced Materials, EarlyView.
Additively manufactured triply periodic minimal surface (TPMS) membranes offer an architecture‐driven alternative to hollow fiber bundles in artificial lungs. Multiphysics simulations and endothelialized prototypes show that the 3D‐printable membrane architecture improves gas exchange, blood flow distribution, and hemocompatibility, enabling ...
Michael Pflaum, Kai P. Barbian, Florian Neuhaus, Gerrit Sitarz, Carolin Nölke, Sebastian V. Jansen, John Linkhorst, Lukas T. Hirschwald, Sebastian Brosch, Christian Certa, Ulrich Steinseifer, Matthias Wessling, Jutta Arens, Arjang Ruhparwar, Bettina Wiegmann   +14 more
wiley   +1 more source

Multiform ventricular complexes: A transitional arrhythmia form?

, 1989
This study was undertaken to better characterize the role of multiform premature ventricular complexes in the classification of ventricular arrhythmias based on form and frequency.
Kessler, Kenneth M, Castellanos, Agustin, McAuliffe, Daniel, Chakko, C.Simon, Myerburg, Robert J   +4 more
core   +1 more source

A Dual‐Modal Wearable PPG Smartwatch with AI‐Enhanced Correction for High‐Accuracy and Continuous AF Burden Assessment

Advanced Science, EarlyView.
ABSTRACT Atrial fibrillation (AF) increases the risk of stroke and heart failure, yet accurate quantification of AF burden in daily life remains difficult. Although smartwatch photoplethysmography (PPG) supports continuous monitoring, complex rhythms and signal noise can impair burden estimation.
Song Zuo, Jinglei Wang, Xin Wang, Han Feng, Yize Zhao, Fadong Li, Shaobin Wei, Le Zhou, Zixu Zhao, Songjie Chen, Xiangyi Kong, Jue Wang, Liu He, Shijun Xia, Xin Li, Junmeng Zhang, Xiaoxia Liu, Xueyuan Guo, Ning Zhou, Songnan Li, Chenxi Jiang, Ribo Tang, Caihua Sang, Deyong Long, Xin Du, Jianzeng Dong, Wenwu Zhu, Changsheng Ma   +27 more
wiley   +1 more source

A Second Pathogenic Protein, PolyGN2C‐iso2, Reveals a Dual‐Protein Pathology in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
This study reveals that NOTCH2NLC transcript variant 2 generates PolyGN2C‐iso2, an aggregating protein present within intranuclear inclusions of NIID patient tissues. A novel mouse model expressing PolyGN2C‐iso2 recapitulates white matter abnormalities and cognitive deficits, mechanistically linked to mitochondrial dysfunction. These findings support a
Kang Zhang, Wenhao Ma, Yi Zhou, Zhijie Wu, Pan Gao, Hongze Niu, Hongfei Tai, Tianyi Zhao, Zheyue Dong, Li Li, Yan Zhang, An Wang, Si Shen, Yueyang Li, Sifei Yu, Yan Peng, Wang Sheng, Xiaoyan Dong, Hua Pan, Kaibin Shi, Magdalena J. Koziol, Xiaobing Wu, Zaiqiang Zhang   +22 more
wiley   +1 more source