Results 91 to 100 of about 594,454 (262)
Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT
PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari +6 morewiley +1 more sourceRe‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT
Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil +9 morewiley +1 more sourceDifferential Item Functioning on the Patient Health Questionnaire 8 by Disease Subtype, Language, Sex, and Age Among People With Systemic Sclerosis: A Scleroderma Patient‐Centered Intervention Network Cohort Study
Arthritis Care &Research, EarlyView.Objective
Somatic items used in depression assessments can potentially overlap with symptoms related to physical illness, including systemic sclerosis (SSc). No studies have looked at whether somatic depression items may be influenced by diffuse versus limited SSc disease subtypes, which are associated with varying degrees of symptom presentation.Sophie Hu, Marie‐Eve Carrier, Marie‐Claude Geoffroy, Meira Golberg, Linda Kwakkenbos, Susan J. Bartlett, Catherine Fortuné, Amy Gietzen, Karen Gottesman, Geneviève Guillot, Laura K. Hummers, Amanda Lawrie‐Jones, Vanessa L. Malcarne, Michelle Richard, Maureen Sauvé, Luc Mouthon, Andrea Benedetti, Brett D. Thombs, on behalf of the SPIN Investigators, Claire E. Adams, Marie Hudson, Maureen D. Mayes, James Stempel, Robyn K. Wojeck, Christian Agard, Laurent Alric, Marc André, Floryan Beaslay, Elana J. Bernstein, Sabine Berthier, Lyne Bissonnette, Sophie Blaise, Eva Bories, Alessandra Bruns, Carlotta Cacciatore, Patricia Carreira, Marion Casadevall, Benjamin Chaigne, Lorinda Chung, Benjamin Crichi, Thylbert Deltombe, Christopher P. Denton, Tannvir Desroche, Robyn Domsic, James V. Dunne, Bertrand Dunogue, Regina Fare, Dominique Farge‐Bancel, Paul R. Fortin, Tracy Frech, Loraine Gauzère, Anne Gerber, Jessica K. Gordon, Brigitte Granel‐Rey, Aurélien Guffroy, Geneviève Gyger, Eric Hachulla, Daphna Harel, Monique Hinchcliff, Sabrina Hoa, Michael Hugues, Alena Ikic, Sindhu R. Johnson, Nader Khalidi, Kimberly S. Lakin, Marc Lambert, Maggie Larche, David Launay, Yvonne C. Lee, Paul Legendre, Catarina Leite, Hélène Maillard, Nancy Maltez, Joanne Manning, Isabelle Marie, Maria Martin Lopez, Thierry Martin, Ariel Masetto, Arsène Mekinian, Sheila Melchor Díaz, Morgane Mourguet, Christelle Nguyen, Karen Nielsen, Mandana Nikpour, Louis Olagne, Vincent Poindron, Janet Pope, Susanna Proudman, Grégory Pugnet, Loïc Raffray, François Rannou, Alexis Régent, Frederic Renou, Sébastien Rivière, David Robinson, Esther Rodríguez Almazar, Tatiana Sofia Rodríguez‐Reyna, Sophie Roux, Perrine Smets, Vincent Sobanski, Robert F. Spiera, Virginia Steen, Evelyn Sutton, Carter Thorne, Damien Vagner, John Varga, Pearce Wilcox, Vanessa Cook, Cassidy Dal Santo, Monica D'Onofrio, Elsa‐Lynn Nassar +110 morewiley +1 more sourceAddressing Economic Insecurities Can Improve Patient‐Reported Outcomes in Lupus
Arthritis Care &Research, EarlyView.Objective
Economic insecurities, such as food, housing, transportation, and financial challenges, are modifiable risk factors and influence patient‐reported outcomes (PROs) in systemic lupus erythematosus (SLE). We examined the following: (1) associations between economic insecurities and PROs, and (2) the impact of screening and addressing economic ...Jay Patel, Tripti Singh, Meredith Ingersoll, Shelby Gomez, Amanda Weber, Sarah E. Panzer, Sancia Ferguson, Christie M. Bartels, Shivani Garg +8 morewiley +1 more sourceIntegrating Patient‐Reported Quality Measures in Systemic Lupus Erythematosus: Development of the American College of Rheumatology Implementation Guide
Arthritis Care &Research, EarlyView.Objective
To support high‐quality, patient‐centered care for systemic lupus erythematosus (SLE), the American College of Rheumatology (ACR) developed evidence‐based measures incorporating clinical and patient‐reported outcome measures (PROMs). Using the Consolidated Framework for Implementation Research (CFIR), we conducted semistructured interviews ...Catherine Nasrallah, Cherish Wilson, Christine Hariz, Christie M. Bartels, Shanthini Kasturi, Wambui Machua, Amy Bennett, Kate Chiseri, Allison Plitman, Starla Hairston Blanks, April Jorge, Patti Katz, Jinoos Yazdany, Shivani Garg +13 morewiley +1 more sourceAssociations of Rheumatoid Arthritis Disease Activity With Frailty Over Five Years of Follow‐up
Arthritis Care &Research, EarlyView.Objective
To evaluate whether rheumatoid arthritis (RA) disease activity is associated with frailty both in cross‐section and longitudinally. Methods
Participants within the Veterans Affairs Rheumatoid Arthritis (VARA) registry enrolled from 2003 to 2022 were included.Courtney N. Loecker, Yangyuna Yang, Punyasha Roul, Aaron Baraff, Myra S. Schmaderer, Lani Zimmerman, Kaleb Michaud, Namrata Singh, Grant W. Cannon, Gary Kunkel, Ted R. Mikuls, Ariela R. Orkaby, Joshua F. Baker, Bryant R. England, Katherine D. Wysham +14 morewiley +1 more sourceRheumatoid 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 morewiley +1 more sourceHealth Care Use Among Patients Presenting to Emergency Department for Gout Flares in Ontario, Canada: A Population‐Based Health Systems Analysis
Arthritis Care &Research, EarlyView.Objective
We characterized emergency department (ED) gout visits and identified patient characteristics and health services patterns contributing to ED presentations. Methods
We conducted a population‐based study of ED gout visits in Ontario, Canada, between 2014 and 2023.Timothy S. H. Kwok, Samantha Morais, William K. Silverstein, Clare L. Atzema, Gregory Choy, Priyanka Chandratre, Ping Li, Jessica Widdifield +7 morewiley +1 more sourceExtending Service Beyond Active Duty: Generalizability of Rheumatoid Arthritis Research Conducted Among U.S. Veterans
Arthritis Care &Research, Accepted Article.Biomedical research involving United States Veterans continues to advance healthcare beyond the Veterans Health Administration. This is particularly true in rheumatoid arthritis (RA), where Veteran‐centric research has uncovered novel insights into pathogenesis, risk factors, and disease manifestations, informing clinical care and research across both ...Austin M. Wheeler, Joshua F. Baker, Jennifer L. Barton, Maria I. Danila, Tate M. Johnson, Kamini Kuchinad, Kaleb Michaud, Amir A. Razmjou, J. Steuart Richards, Namrata Singh, Isaac D. Smith, Katherine D. Wysham, Grant W. Cannon, Bryant R. England, Amy Joseph, Deana Lazaro, Katherine P. Liao, Courtney Loecker, Andreas Reimold, Beth I. Wallace, Ted R. Mikuls +20 morewiley +1 more source