Results 101 to 110 of about 5,815,326 (246)

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

Longitudinal Assessment of Biomarkers in ALS: Discriminative Biomarkers for Disease Progression and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the association and discriminative performance of serum biomarkers with clinical disease progression and survival in patients with amyotrophic lateral sclerosis (ALS). Methods This retrospective study, conducted at Houston Methodist Hospital, Houston, TX, used longitudinal serum samples collected between January 2018 and ...
David R. Beers, Yueh‐Yun Lin, Jason R. Thonhoff, Aaron D. Thome, Alireza Faridar, Weihua Zhao, Shixiang Wen, Stanley H. Appel   +7 more
wiley   +1 more source

Physical activity, COVID-19, and respiratory comorbidities: The good, the bad, and the ugly

Journal of Sport and Health Science, 2023
Anh-Tuan Dinh-Xuan, Thông Hua-Huy, Sven Günther   +2 more
doaj   +1 more source

Ofatumumab in Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease: A Comparison With Rituximab

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the efficacy and safety of ofatumumab in patients with myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), and compare it with rituximab. Methods We conducted a single–center, observational study including 22 MOGAD patients treated with ofatumumab and 21 treated with rituximab.
Yuxin Fan, Lei Zhou, Jingzi ZhangBao, Hongmei Tan, Zhouzhou Wang, Chao Quan   +5 more
wiley   +1 more source

Influenza Vaccination Responses in Disabled Stroke Patients: A Single‐Center Prospective Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to investigate the immunological response to influenza vaccination, the incidence and severity of influenza infection, and the side effects of the vaccination in patients with ischemic stroke. Methods This prospective observational study was conducted between 2023 and 2024 at Ramathibodi Hospital.
Achiraya Pakngao, Sureerat Suwatcharangoon, Pintip Ngamjanyapron, Kobporn Boonnak, Thanitta Suangtamai, Porpon Rotjanapan   +5 more
wiley   +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

Comparative Effectiveness and Safety of Inebilizumab Versus Rituximab in AQP4‐IgG‐Positive NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rituximab (anti‐CD20, RTX) and inebilizumab (anti‐CD19, INE) represent B‐cell‐depleting therapies used for aquaporin‐4 antibody‐positive (AQP4‐IgG+) neuromyelitis optica spectrum disorder (NMOSD); however, direct comparative evidence remains limited.
Jie Lin, Binbin Xue, Dewei Xie, Jia Li, Juyuan Pan, Lanbing Zhu, Qiaowen Tong, Jing Lin, Ruofan Zhu, Xu Zhang, Junhui Xia, Xiang Li   +11 more
wiley   +1 more source

Cardiopulmonary function alterations in mild and moderate SARS-CoV-2 patients: a longitudinal comparison of pre-infection and early recovery phases

Virology Journal
The purpose of this study is to compare and analyze the changes of CPET and pulmonary function indexes in patients with mild and moderate SARS-CoV-2 before infection and in the early recovery period, and to explore the influence of SARS-CoV-2 on ...
Yijing Feng, Jinyi Xu, Xianglin Lian, Xiaoju Zhang   +3 more
doaj   +1 more source

Exploring the role of sex in asthma and COPD pharmacological treatment

Current Research in Pharmacology and Drug Discovery
Sex is a fundamental determinant in pharmacology, influencing disease prevalence, severity, and therapeutic responses. Differences in pharmacokinetics and pharmacodynamics between men and women contribute to variations in drug efficacy and safety ...
Luigino Calzetta, Shima Gholamalishahi, Elena Pistocchini, Bartolomeo Zerillo, Maria Gabriella Matera, Paola Rogliani   +5 more
doaj   +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