Results 31 to 40 of about 80,128 (217)

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

Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro, Shiwen Koay, Gordon T. Ingle, Patricia McNamara, Laura Watson, Fion Bremner, Valeria Iodice   +6 more
wiley   +1 more source

Mechanical and Electrical Phenotype of hiPSC‐Cardiomyocytes on Fibronectin‐Based Hydrogels

Advanced Healthcare Materials, EarlyView.
We introduce fibronectin‐based PEG hydrogels with controlled rigidity to enable the culture of iPSC‐derived cardiomyocytes. These substrates offer an alternative to the current culture of these cells on fibronectin‐coated glass, providing enhanced structural and functional behavior. The system provides a more physiologically relevant platform to assess
Ana Da Silva Costa, Lineta Stonkute, Sara Trujillo, Mariana Azevedo Gonzalez Oliva, Francis Burton, Matthew J. Dalby, Oana Dobre, Godfrey Smith, Manuel Salmeron‐Sanchez   +8 more
wiley   +1 more source

Prenatal Diagnosis of Atrioventricular Block and QT Interval Prolongation by Fetal Magnetocardiography in a Fetus with Trisomy 18 and SCN5A R1193Q Variant

Case Reports in Pediatrics, 2017
We report a case of fetal trisomy 18 with SCN5A R1193Q variant that presented with sinus bradycardia, 2 : 1 atrioventricular block (AVB), and QT interval prolongation.
Lisheng Lin, Miho Takahashi-Igari, Yoshiaki Kato, Yoshihiro Nozaki, Mana Obata, Hiromi Hamada, Hitoshi Horigome   +6 more
doaj   +1 more source

Weaving Intelligence: Thermally Drawn Multimaterial Fibers Toward AI‐Enabled Smart Textiles

Advanced Materials, EarlyView.
Thermally drawn multimaterial fibers are rapidly advancing as intelligent structural units for next‐generation smart textiles. Integrating multimaterial architectures with neuromorphic and spiking‐neural‐network principles enables fabrics that can sense, compute, and adapt autonomously.
Vuong Dinh Trung, Jiaxiang Yi, Hieu Nguyen‐Duc, Tien Nu Hoang Lo, Weili Zhao, Chaoqun Dong, Fabien Sorin, Baris Caglar, Lei Wei, Tung Nguyen‐Dang   +9 more
wiley   +1 more source

PET Imaging of Cardiac Inflammation in Viral Myocarditis Using a DPP4‐Targeted Probe

Advanced Science, EarlyView.
This study describes a DPP4‐targeted PET probe for imaging myocardial inflammation by selectively targeting activated immune cells. Derived from the clinically approved small‐molecule inhibitor linagliptin, the probe demonstrates favorable biodistribution with specific cardiac uptake in myocarditis.
Wanhao Gao, Wenzhu Hu, Du Tang, Xinxin Liu, Kun Yu, Lixia Feng, Minyu Liao, Wang Lin, Wenqiang Zhu, Sanjay Rajagopalan, Xiaoli Lan, Jixin Zhong, Dao Wen Wang, Dawei Jiang, Xiaoquan Rao   +14 more
wiley   +1 more source

Actionable Variants of Unknown Significance in Inherited Arrhythmogenic Syndromes: A Further Step Forward in Genetic Diagnosis

Biomedicines
Background/Objectives: Inherited arrhythmogenic syndromes comprise a heterogenic group of genetic entities that lead to malignant arrhythmias and sudden cardiac death.
Estefanía Martínez-Barrios, Andrea Greco, José Cruzalegui, Sergi Cesar, Nuria Díez-Escuté, Patricia Cerralbo, Fredy Chipa, Irene Zschaeck, Miguel Fogaça-da-Mata, Carles Díez-López, Elena Arbelo, Simone Grassi, Antonio Oliva, Rocío Toro, Georgia Sarquella-Brugada, Oscar Campuzano   +15 more
doaj   +1 more source

Hijacking the Host Clock: A Nematode Effector Antagonizes Soybean Circadian Defense and Translation Control

Advanced Science, EarlyView.
Soybean employs its circadian clock, governed by GmCCA1, to rhythmically defend against soybean cyst nematodes. The pathogen retaliates by secreting the effector Hg4E02, which hijacks the clock to suppress defense and co‐opt the host's translation machinery for nutrient acquisition.
Xingwei Wang, Yufeng Xu, Yanfei Hu, Lijun Cao, Ru Jiang, Changtian Chen, Rick Masonbrink, Thomas Maier, Yuchen Tu, Yabo Shi, Enhui Liu, Lingan Kong, Chan Guo, Wei Zhao, Peng Shi, Wenzhen Du, Andrew Severin, Thomas Baum, Deliang Peng, Huan Peng, Mian Zhou, Wei Wang   +21 more
wiley   +1 more source

Two Cases of Tuberous Sclerosis With Multiple Rhabdomyoma Succumbing to Sudden Cardiac Death

Indian Journal of Clinical Cardiology, 2021
Tuberous sclerosis complex is an autosomal dominant condition with variable penetrance. It is characterized by tuberose deposits in various organ systems.
Manjappa Mahadevappa, Vikram Patil, K.S. Poornima, Sowmya Velamala, B.V. Guruprasad   +4 more
doaj   +1 more source

Autoimmune Encephalitis in Acute Care—Pathology, Diagnosis, and Management

Advanced Science, EarlyView.
ABSTRACT Autoimmune encephalitis (AE) is characterized by immune‐mediated inflammation of the brain parenchyma, presenting with various neurological syndromes, including but not limited to seizures, altered consciousness, neuropsychiatric symptoms, and movement disorders.
Suneesh Thilak, David Okoh, William Scotton, Shanika Samarasekera, Vikram Patil, Suresh Renukappa, Andrew Macduff, Subashini Suresh, Rajeev Krishnadas, Tonny Veenith   +9 more
wiley   +1 more source