Results 91 to 100 of about 35,434 (257)

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Feasibility and Tolerability of Performing Portable MRI for Neurological Disorders in an Outpatient Neurology Clinic: A Prospective Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Accessing brain magnetic resonance imaging (MRI) can be challenging, especially for underserved patients, which may lead to disparities in neurological diagnosis. Method This mixed‐methods study enrolled adults with one of four neurological disorders: mild cognitive impairment or dementia of the Alzheimer type, multiple sclerosis ...
Maya L. Mastick, Nomin Enkhtsetseg, Joseph Sadok, Matheus Mochetti, Annabel Sorby Adams, Jennifer Guo, Cristina Trapaga Hacker, Isabella Gomez Hjerthen, Seungwon Lee, Siddharth Satish, Andrew S. Ham, Justin Hill, Denis Balaban, Kevin Kyle, Rebecca L. Gillani, Marcelo Matiello, Aleksandar Videnovic, Eric C. Klawiter, W. Taylor Kimberly, Farrah J. Mateen   +19 more
wiley   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Serum Soluble Mediator Signatures of Lupus Nephritis: Histologic Features and Response to Treatment

Arthritis Care &Research, EarlyView.
Objective Lupus nephritis (LN) management remains challenging, and novel noninvasive biomarkers are needed. This study quantified serum soluble mediators in the Accelerating Medicines Partnership (AMP) LN cohort to identify biomarkers of histologic features and treatment response.
Andrea Fava, Catriona A. Wagner, Carla J. Guthridge, Susan Macwana, Wade DeJager, Melissa E. Munroe, Peter Izmirly, H. Michael Belmont, Betty Diamond, Anne Davidson, Paul J. Utz, Michael H. Weisman, Philip M. Carlucci, Maria Dall'Era, Kenneth Kalunian, Chaim Putterman, Jennifer Anolik, Jennifer L. Barnas, David Wofsy, Diane Kamen, Richard A. Furie, Deepak A. Rao, the Accelerating Medicines Partnership Rheumatoid Arthritis and Systemic Lupus Erythematosus Network, Chun‐Hao Lee, Derek Fine, Manny Monroy‐Trujillo, Ummara Shah, Mariko Ishimori, Robert M. Clancy, Michael Belmont, Ming Wu, Nicole Bornkamp, Evan Der, Beatrice Goilav, Nicole Jordan, Daniel Schwartz, James Pullman, David Wofsy, Dawn Smilek, Patti Tosta, Matthias Kretzler, Celine C. Berthier, E. Steve Woodle, Dave Hildeman, Michael Brenner, Michelle Petri, Joel M. Guthridge, Jill Buyon, Judith A. James   +48 more
wiley   +1 more source

Clinical Conditions Associated With a High Antinuclear Antibody Titer in Individuals Without Autoimmune Disease

Arthritis Care &Research, EarlyView.
Objective Antinuclear antibodies (ANAs) are present at high titers in 2% of the general population, but their clinical significance in individuals without an autoimmune (AI) disease is not known. We tested the hypothesis that the presence of a high ANA titer in non‐AI conditions is associated with disease.
Matthew Chung, John P. Shelley, Gul Karakoc, John Still, Xiaodi Ruan, Jonathan Mosley, C. Michael Stein, Vivian K. Kawai   +7 more
wiley   +1 more source

Fine Motor Skills [PDF]

, 2020
openaire   +1 more source

Temporal Trends and Short‐ and Long‐Term Mortality of People With Acute Myocardial Infarction and Rheumatoid Arthritis: A Nationwide Cohort Study

Arthritis Care &Research, EarlyView.
Objective We investigated whether a diagnosis of rheumatoid arthritis (RA) affects the quality of inpatient acute myocardial infarction (AMI) care and long‐term mortality post‐AMI. Methods We analyzed data from 784,091 adults, 6,047 with a diagnosis of RA, from England and Wales hospitalized with AMI between 2005 and 2019 from the Myocardial Ischaemia ...
Megan Butler, Nicholas Weight, Muhammad Rashid, Rodrigo Bagur, Purvi Parwani, Samantha Hider, Edward Roddy, Robert Butler, Mamas A. Mamas   +8 more
wiley   +1 more source

Analysis of Physical Growth and Motor Development in Early Childhood

Jurnal Pendidikan Jasmani dan Olahraga
Physical growth and motor development in early childhood are critical for shaping long-term health and cognitive abilities. Research has extensively examined Body Mass Index (BMI), arm span, leg length, and motor skills as key indicators of a child ...
Surya Adi Saputra, Lokananta Teguh Hari Wiguno   +1 more
doaj   +1 more source

Trajectories of Physical Function in Canadian Children with Juvenile Idiopathic Arthritis

Arthritis Care &Research, Accepted Article.
Objectives We describe trajectories of physical function in children newly diagnosed with juvenile idiopathic arthritis (JIA) and identify trajectories with persisting functional impairments and associated baseline characteristics. Methods We included patients enrolled in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry ...
Clare Cunningham, Meghan McPherson, Lillian Lim, Roberta A. Berard, Matthew Berkowitz, Jean‐Philippe Proulx‐Gauthier, Brian M. Feldman, Nicole Johnson, Dax G. Rumsey, Heinrike Schmeling, Lori B. Tucker, Thomas Loughin, Kristin M. Houghton, Jaime Guzman, The CAPRI Registry Investigators   +14 more
wiley   +1 more source