Results 31 to 40 of about 155,656 (216)

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source

Rheumatoid Arthritis and Coronary Artery Calcium Progression: A Case Cohort Analysis From ELSA‐Brasil

Arthritis Care &Research, EarlyView.
Objective To investigate the association between rheumatoid arthritis (RA) and coronary artery calcium (CAC) prevalence, incidence, and progression over four years in adults without prior cardiovascular disease. Methods A case‐cohort study within the Brazilian Longitudinal Study of Adult Health (ELSA‐Brasil) included 585 participants (86 patients with ...
Patrícia Fonseca Estrada, Marcos Rafael N. Cavalcante, Itamar de Souza Santos, Márcio S. Bittencourt, Vandrize Meneghini, Paulo A. Lotufo, Alessandra C. Goulart, Isabela M. Bensenor   +7 more
wiley   +1 more source

Artificial Intelligence–Based Online Symptom Assessment Tools for Systemic Lupus Erythematosus Diagnosis: Patient Perspectives

Arthritis Care &Research, EarlyView.
Objective The objective of this article is to identify perceptions of patients with systemic lupus erythematosus (SLE) regarding artificial intelligence (AI)–based online symptom assessment tools, and the potential of these tools to address diagnostic barriers.
Olivia A. Stein, Jennifer L. F. Lee, Evelyne Vinet, Arielle Mendel, Christian A. Pineau, Fares Kalache, Louis‐Pierre Grenier, Sasha Bernatsky   +7 more
wiley   +1 more source

Real‐World Safety and Effectiveness of JAK Inhibitors in Systemic Sclerosis: A Propensity‐Matched Study From the EUSTAR Cohort

Arthritis Care &Research, EarlyView.
Objective JAK inhibitors (JAKi) have shown promising effects in early‐phase studies of systemic sclerosis (SSc). We aimed to assess the safety and explore the effectiveness of JAKi compared to conventional immunosuppressants in SSc. Methods A longitudinal retrospective study of the European Scleroderma Trials and Research Group (EUSTAR) cohort was ...
Stefano Di Donato, Marie‐Elise Truchetet, Marco Minerba, Oliver Distler, Juan José Alegre Sancho, Yolanda Braun‐Moscovici, Christina Bergmann, Petros Sfikakis, Jeska K. de Vries‐Bouwstra, Murray Baron, Silvia Bellando‐Randone, Lorenzo Dagna, Christopher P. Denton, Madelon C. Vonk, Vanessa Smith, Ivan Castellvi, Gabriela Riemekasten, Andra Balanescu, Masataka Kuwana, Maria De Santis, Kamal Solanki, Anastas Batalov, Vahan Mukuchyan, Marco Matucci‐Cerinic, Yannick Allanore, Francesco Del Galdo, Michael Hughes, EUSTAR Collaborators   +27 more
wiley   +1 more source

Longitudinal Changes in Adiposity After a Youth Sport‐Related Knee Injury: Informing Posttraumatic Osteoarthritis Prevention

Arthritis Care &Research, EarlyView.
Objective Youth who experience a sport‐related knee injury have elevated odds of becoming overweight or developing obesity in 3 to 10 years, compounding their risk for posttraumatic osteoarthritis (PTOA). To inform prevention strategies, this study compared patterns of adiposity change between youth with a sport‐related knee injury and uninjured youth ...
Justin M. Losciale, Nuria E. J. Jansen, Christina Y. Le, Leo Lu, Hui Xie, Marienke van Middelkoop, Jackie L. Whittaker   +6 more
wiley   +1 more source

Employment Trajectories of Patients With Systemic Lupus Erythematosus and Factors Driving Transitions Between States

Arthritis Care &Research, EarlyView.
Objective Systemic lupus erythematosus (SLE) significantly impacts employment capacity. This study aimed to investigate the impact of burden of disease activity, damage, and treatment on employment outcomes and transitions in patients with SLE. Methods Using data from a single center, we analyzed employment transitions, adjusted mean disease activity ...
Javier Mencia‐Ledo, Zahi Touma, Laura Whittall Garcia, Dafna D. Gladman, Behdin Nowrouzi‐Kia   +4 more
wiley   +1 more source

Clinical Validation of Artificial Intelligence (AI)‐based Cartilage Segmentation Predicting Knee Replacement

Arthritis Care &Research, Accepted Article.
Objective For cartilage morphology to serve as a scalable endpoint in clinical trials, analyses should be performed automatically without human interaction. To clinically validate artificial intelligence (AI)‐based analysis, we studied cartilage loss from MRI prior to knee replacement.
Felix Eckstein, David J. Hunter, C. Kent Kwoh, Wolfgang Wirth   +3 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

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