Results 171 to 180 of about 1,155,572 (286)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Evaluation of Dried Plasma Spot‐Based Quantification of Glial Fibrillary Acidic Protein as a Disease‐Associated Biomarker in Neuromyelitis Optica Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the diagnostic accuracy of glial fibrillary acidic protein (GFAP) measured in dried plasma spots versus conventional plasma‐ and serum‐GFAP testing for assessment of disease severity in aquaporin‐4 immunoglobulin G–positive neuromyelitis optica spectrum disorder (AQP4‐IgG+ NMOSD).
Felix Wohlrab, Evelyn Alvarez, Roua Hamdi, Bingqing Zhang, Hayeun Ji, Niyati Jhaveri, Patrick Schindler, Pedro Sanchez, Pia S. Sperber, Tanja Schmitz‐Hübsch, Frederike C. Oertel, Nisa Vorasoot, Najib Kissani, Falko Böhringer, Jens Kuhle, Anne‐Katrin Pröbstel, Xiao‐Jun Ma, Péter Körtvelyessy, Patrick Waters, Friedemann Paul   +19 more
wiley   +1 more source

Cerebrospinal Fluid Over Plasma Links Analytes to Cognitive Decline in Older Adults at Risk for Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To identify inflammatory analytes in cerebrospinal fluid (CSF) and plasma associated with cognitive decline in cognitively normal (CN) older adults at risk for Alzheimer's disease (AD). Methods In a longitudinal study of 118 CN older adults (65–80 years, 54% APOE ε4, 26% preclinical AD), 1331 CSF and 1501 plasma analytes were ...
Jagan A. Pillai, Audrey Zhu, Chunxuan Ma, Ming Wang, Yifan Yang, Lynn M. Bekris, Maria Khrestian, Frank P. DiFilippo, Mikhail Nasrallah, Aaron Burberry, James B. Leverenz, Yuan Hou, Feixiong Cheng, Stephen M. Rao   +13 more
wiley   +1 more source

microRNA‐7‐5p and α‐Synuclein SAA Predict Parkinson's Disease Phenoconversion

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Corroborate blood neuron‐derived extracellular vesicle (NDEV) alpha‐synuclein (αSyn), the CSF αSyn seed amplification assay (αSyn‐SAA), and blood microRNA‐7‐5p (miR‐7‐5p) as markers for Parkinson's disease (PD) phenoconversion and determine if combining these markers would help select subjects who would be more likely to phenoconvert.
Shayan Zadegan, Praveen Velammal, Kanmani Muthiah, Madhu Jatty, Christopher Adams   +4 more
wiley   +1 more source

Cracking the Code: Which Ocular Symptoms Predict Dry Eye Signs? Insights From a Large International Sicca Registry

Arthritis Care &Research, EarlyView.
Objective The study aimed to identify symptom‐based predictors of dry eye disease (DED) signs in the Sjögren's International Collaborative Clinical Alliance (SICCA) cohort. Methods We performed a retrospective analysis examining 16 ocular symptoms (most graded 0–4) and artificial tear (AT) use (graded 0–3) as predictors of DED signs (abnormal ocular ...
Pragnya R. Donthineni, Chloe Shields, Rohit Muralidhar, Shreya Bhatt, Alan Baer, Robert Fox, Sara S. McCoy, Anat Galor   +7 more
wiley   +1 more source

Immunosuppressive Drug Use in Limited Systemic Sclerosis: An International Survey

Arthritis Care &Research, EarlyView.
Objective Current guidelines recommend immunosuppressive treatment for diffuse cutaneous systemic sclerosis but are less clear on their use in limited cutaneous systemic sclerosis (lcSSc) in the absence of internal organ complications. We conducted an international survey to understand current immunosuppressive drug prescribing patterns in lcSSc ...
Sabrina Hoa, Yicheng Mu, Marie Hudson, Janet Pope   +3 more
wiley   +1 more source

Distinct Systemic Sclerosis Phenotypes Related to Ethnicity: An Opportunity to Personalize Care?

Arthritis Care &Research, EarlyView.
Objective The objective is to describe and compare demographic, clinical, and serological characteristics of patients with systemic sclerosis (SSc) according to ethnic background. Methods Participants enrolled in the Canadian Scleroderma Research Group cohort who self‐identified to a single ethnicity group were included.
Danick Goulet, Camille Guertin, Maggie Larché, Isabelle Ferdinand, Marie Hudson, May Y. Choi, Mohammed Osman, Janet Pope, Carter Thorne, Murray Baron, Sasha Bernatsky, Sabrina Hoa   +11 more
wiley   +1 more source

Clinical Characteristics and Concordance of Anti‐MDA5 Antibodies: A Multicenter Australian Study

Arthritis Care &Research, EarlyView.
Objective In Australia, anti‐MDA5 antibodies are exclusively tested by a line immunoblot assay (LIA). The clinical concordance of an LIA‐positive anti‐MDA5 result is unclear. We aimed to describe the clinical features and determine the clinical concordance of patients with anti‐MDA5 antibodies. Methods Electronic records of a multisite cohort (patients
Syed B. Ali, Thomas Khoo, Keeran Shivakumar, Adam Caroll, Lauren Hender, Dimitra Beroukas, Kim Griggs, Celina Jin, Theo De Malmanche, Jessica Day, Gabor Major, Vidya Limaye   +11 more
wiley   +1 more source

Automated Hand Flexor Tendon–Thickness Measurement in Systemic Sclerosis

Arthritis Care &Research, EarlyView.
Objective Systemic sclerosis (SSc) can affect flexor tendons, contributing to hand function problems and reduced quality of life. Tendon changes are currently assessed with ultrasonography and measured manually, a time‐consuming process prone to interobserver variability.
Mark Greveling, Ties van het Erve, Yvette van de Berg, Simon Mastbergen, Julia Spierings   +4 more
wiley   +1 more source

Microvascular Damage Is Associated With Carotid Wall Structural Changes in Systemic Sclerosis: A Capillaroscopy and Ultrasound‐Based Observational Study

Arthritis Care &Research, EarlyView.
Objective Systemic sclerosis (SSc) is characterized by cardiovascular risk excess not fully explained by traditional factors. Whether the severity of microvascular damage correlates with structural subclinical atherosclerosis remains unclear. We investigated the relationship between nailfold videocapillaroscopy (NVC) abnormalities and carotid ...
Eugenio Capparelli, Luca Clerici, Francesco Lapia, Giusy C. Moltisanti, Eleonora Zaccara, Greta Pellegrino, Daniela Bompane, Francesca Capelli, Letizia Ferrami, Laura Castelnovo, Antonio Tamburello, Maria Sole Chimenti, Paola Faggioli, Antonino Mazzone   +13 more
wiley   +1 more source