Results 151 to 160 of about 41,881,553 (292)

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Reserves, Injury Severity, and Outcomes in Traumatic Brain Injury: A CENTER‐TBI Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Reserve refers to the brain's ability to maintain function after an injury and strongly relates to traumatic brain injury (TBI) outcomes. This study examined (1) whether associations between pre‐injury reserve proxies and outcomes differed across injury severity categories, and (2) whether the impact of injury severity varied across ...
Natascha Ekdahl, Marika C. Möller, Lindsay Wilson, Anne Vik, Toril Skandsen, Jonas Stenberg, CENTER‐TBI participants and investigators   +6 more
wiley   +1 more source

Development of a Paper-Based Sensor Compatible with a Mobile Phone for the Detection of Common Iron Formulas Used in Fortified Foods within Resource-Limited Settings. [PDF]

Nutrients, 2019
Waller AW, Toc M, Rigsby DJ, Gaytán-Martínez M, Andrade JE.   +4 more
europepmc   +1 more source

Ofatumumab Therapy and Long‐Term Seizure Outcomes of Patients With Relapsing Anti‐NMDA Receptor Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There is a lack of studies on seizure outcomes associated with ofatumumab therapy in patients for relapsing anti‐N‐methyl‐D‐aspartate (NMDA) receptor encephalitis. We aimed to evaluate long‐term seizure outcomes of ofatumumab therapy for relapsing anti‐NMDA receptor encephalitis.
Jian Wang, Mengjiao Li, Ping Kong
wiley   +1 more source

A Single-Use, Self-Powered, Paper-Based Sensor Patch for Detection of Exercise-Induced Hypoglycemia. [PDF]

Micromachines (Basel), 2017
Cho E, Mohammadifar M, Choi S.
europepmc   +1 more source

PCGF1 Promotes the Tumorigenesis of Malignancies Through Upregulating CCDC34 in Glioma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Polycomb group factor 1 (PCGF1) and coiled‐coil domain‐containing protein 34 (CCDC34) have been implicated in tumorigenesis in multiple malignancies. However, their biological functions and prognostic significance in glioma remain poorly defined.
Yuanbing Chen, Jianbing Xiong, Ziran Ou, Tianhao Zhao, Hui Li, Jun Huang, Zhi Tian, Wuyang Cao   +7 more
wiley   +1 more source

Beyond Visual Scoring: Computational Computed Tomography Analysis for High‐Resolution Computed Tomography–Based Quantification of Interstitial Lung Disease in Inflammatory Rheumatic Disease

Arthritis Care &Research, EarlyView.
Interstitial lung disease (ILD) is a significant cause of morbidity and mortality in patients with inflammatory rheumatic disorders (IRDs). High‐resolution computed tomography (HRCT) is widely considered the gold standard for the noninvasive assessment of ILD; however, its interpretation is constrained by substantial interobserver variability and the ...
Alexander Pfeil, Tobias Hoffmann, Ulf Teichgräber, Diane Renz, Denise Beckmann, Gunter Wolf, Nicole Schadewaldt, Bianca Lassen‐Schmidt   +7 more
wiley   +1 more source

Multiple Emitting Amphiphilic Conjugated Polythiophenes-Coated CdTe QDs for Picogram Detection of Trinitrophenol Explosive and Application Using Chitosan Film and Paper-Based Sensor Coupled with Smartphone. [PDF]

Adv Sci (Weinh), 2019
Tawfik SM, Sharipov M, Kakhkhorov S, Elmasry MR, Lee YI.   +4 more
europepmc   +1 more source

Generative Artificial Intelligence in Clinical Practice: How Should Rheumatologists Evaluate and Monitor Emerging Tools?

Arthritis Care &Research, EarlyView.
Generative artificial intelligence (AI) is increasingly being used in rheumatology practice, to assist with tasks such as documentation, record summarization, and clinical decision support. Rheumatologists need a practical approach to determining what evidence and oversight each application requires.
Koushan Kouranloo, Mrinalini Dey, Jinoos Yazdany   +2 more
wiley   +1 more source