Results 171 to 180 of about 7,804,605 (312)

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

Geospatial optimization of Air-Mobile Stroke Unit deployment in Norway: expanding the frontiers of neurocritical care. [PDF]

Front Neurol
Jagtenberg CJ, Boer AM, Rehn M, Roislien J, Hov MR, Larsen K.   +5 more
europepmc   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

A machine learning model to simplify recognition of patients with atrial fibrillation based on diagnostic codes in Swedish primary health care. [PDF]

BMC Med Inform Decis Mak
Norrman A, Wachtler C, Wändell P, Eriksson J, Ruge T, Brynedal B, Hasselström J, Kahan T, Carlsson AC.   +8 more
europepmc   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 more
wiley   +1 more source

Near-Optimal Decoding Algorithm for Color Codes Using Population Annealing. [PDF]

Entropy (Basel)
Martínez-García F, F Pereira FR, Parrado-Rodríguez P.   +2 more
europepmc   +1 more source

Preferences for Posttraumatic Osteoarthritis Prevention Strategies in Individuals With Anterior Cruciate Ligament Injury

Arthritis Care &Research, EarlyView.
Objective There is growing interest in evaluating new strategies to delay or prevent posttraumatic osteoarthritis (PTOA) in individuals who have sustained anterior cruciate ligament (ACL) injury. This study sought to determine characteristics of potential treatments that are acceptable to patients with ACL injury. Methods Participants with a history of
Kevin Kennedy, Lily Waddell, Adam Easterbrook, Jeffrey N. Katz, Cale Jacobs, Morgan Jones, Faith Selzer, Elena Losina, Liana Fraenkel, Nick Bansback   +9 more
wiley   +1 more source

A governance framework for medical code standardization to enhance multi-institutional data quality. [PDF]

BMC Med Inform Decis Mak
Yamashita T, Shibata SI, Takada A, Hotta T, Izukura R, Kang D, Nakashima N.   +6 more
europepmc   +1 more source

A Qualitative Analysis of Patient Perspectives and Preferences in Lupus Management to Guide Lupus Guidelines Development

Arthritis Care &Research, EarlyView.
Objective A patient‐centered approach for chronic disease management, including systemic lupus erythematosus (SLE), aligns treatment with patients’ values and preferences, leading to improved outcomes. This paper summarizes how patient experiences, perspectives, and priorities informed the American College of Rheumatology (ACR) 2024 Lupus Nephritis (LN)
Shivani Garg, Izzy Hartel, Lisa R. Sammaritano, Anca Askanase, Bonnie L. Bermas, Maria Dall'Era, Alí Duarte‐García, Victoria P. Werth, Brad Rovin, Reem A. Mustafa, Amy S. Turner, Bené Williams, Brian L. Ung, Hiya Bhavsar, Monique C. Gore‐Massy, Nahirannette Pulido, Natacha Guerrero, Natalie M. Smith, Wambui Machua, Linda T. Hiraki, Mary Beth Son   +20 more
wiley   +1 more source

Cognitive Behavioral Therapy for Youth With Childhood‐Onset Lupus: A Randomized Clinical Trial

Arthritis Care &Research, EarlyView.
Objective Our objective was to determine the feasibility and acceptability of the Treatment and Education Approach for Childhood‐Onset Lupus (TEACH), a six‐session cognitive behavioral intervention addressing depressive, fatigue, and pain symptoms, delivered remotely to individual youth with lupus by a trained interventionist.
Natoshia R. Cunningham, Thea Senger‐Carpenter, Jocelyn Zuckerman, Michelle Adler, Mallet R. Reid, Ashley Danguecan, Luana Flores Pereira, Sarah I. Mossad, Samantha L. Ely, Khalid Abulaban, Elizabeth A. Kessler, Natalie Rosenwasser, Tamar B. Rubinstein, Ekemini A. Ogbu, Emily A. Smitherman, Alaina Miller, Taylor Abounader, Elizabeth Ross, Livie Timmerman, Dhriti Sharma, Jennifer N. Stinson, Stacy Allen, Kabita Nanda, Tala El Tal, Deborah M. Levy, Linda T. Hiraki, Hermine I. Brunner, Mathew Reeves, Steven J. Pierce, Andrea Knight   +29 more
wiley   +1 more source