Results 31 to 40 of about 40,057 (227)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya +11 morewiley +1 more sourcePredictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...Miquel Massons, Nuria Guillen, Jordi Sarto, Neus Falgàs, Sergi Borrego‐Écija, Diana Esteller‐Gauxax, Magda Castellví, Adrià Tort‐Merino, Agnès Pérez‐Millan, Anna Antonell, Josep M. Augè Fradera, Gerard Piñol, Iolanda Riba, Anna Carnes‐Vendrell, Marta Cullell, Maria Teresa Osuna, Lorena Bajo, Teresa Romero, Eva Bonjoch, Joan Bello, Susana Fernández, Marta Balagué, Isabel Gómez‐Ruiz, Anuncia Boltes, Claustre Pont, Raquel Cuevas, Sara Carrillo, Laura Iglesias, Teresa Maria Casadevall Codina, Lorena Grau Guinea, Fernando Jose Espada, Raquel Sánchez‐Valle, Mircea Balasa, Albert Lladó +33 morewiley +1 more sourceA Qualitative Analysis of Patient Perspectives and Preferences in Lupus Management to Guide Lupus Guidelines Development
Arthritis Care &Research, EarlyView.Objective
A patient‐centered approach for chronic disease management, including systemic lupus erythematosus (SLE), aligns treatment with patients’ values and preferences, leading to improved outcomes. This paper summarizes how patient experiences, perspectives, and priorities informed the American College of Rheumatology (ACR) 2024 Lupus Nephritis (LN)Shivani Garg, Izzy Hartel, Lisa R. Sammaritano, Anca Askanase, Bonnie L. Bermas, Maria Dall'Era, Alí Duarte‐García, Victoria P. Werth, Brad Rovin, Reem A. Mustafa, Amy S. Turner, Bené Williams, Brian L. Ung, Hiya Bhavsar, Monique C. Gore‐Massy, Nahirannette Pulido, Natacha Guerrero, Natalie M. Smith, Wambui Machua, Linda T. Hiraki, Mary Beth Son +20 morewiley +1 more sourceA randomised feasibility study of serial magnetic resonance imaging to reduce treatment times in Charcot neuroarthropathy in people with diabetes (CADOM): A protocol [PDF]
, 2020 Background Charcot neuroarthropathy is a complication of peripheral neuropathy associated with diabetes which most frequently affects the lower limb. It can cause fractures and dislocations within the foot, which may progress to deformity and ulceration. A Mcinnes, A Zigmond, D Armstrong, D Armstrong, D Sinacore, J Charcot, J Labovitz, J Ware, L Metcalf, L Vileikyte, M Davalos-Bichara, M Hastings, M Herdman, M Pinzur, N Black, R Frykberg, R Kimmerle, S Julious, T Shibata, V Braun +19 morecore +1 more sourceClinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease
Arthritis Care &Research, EarlyView.Objective
Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.Anahita Deboo, Robert Fox, Katherine M. Hammitt, Julie Frantsve‐Hawley, Matthew C. Baker, Stamatina Danielides, Eduardo De Sousa, Brent P. Goodman, Jennifer K. King, Steven Mandel, Ghaith Noaiseh, Pantelis P. Pavlakis, George Sarka, R. Hal Scofield, Arun Varadhachary, Daniel J. Wallace, Matt Makara, Nancy Carteron, Steven Carsons, in collaboration with the Consensus Expert Panel (CEP) members, G. Alden Adkins, Brittany Adler, Hossein Ansari, Senada Arabelovic, Alan Baer, Denis Balaban, Shamik Bhattacharyya, Evelyn Bromet, Krishna Chaganti, Kamal Chemali, Melissa Cortez, Schartess Culpepper, Paul Dellaripa, Dana Direnzo, Daniel El Bogdadi, Robert Fearon, Mehrnez Fischbach, Judi Furlong, Christopher Gibbons, Rachael Gordon, Thomas Grader Beck, Syed Haider, Larry Hollenbeck, Chadwick R. Johr, Stuart S. Kassan, Brian King, Octavia Kincaid, Eugene Kissin, Vasileios Kyttaris, Lindsay Lally, Brandon M. Law, Janet Lewis, Scott M. Lieberman, Amanda Lusa, Joseph Lutt, Rashmi Maganti, Arthur M. Mandelin, Sara McCoy, Kerry Neall, Timothy Niewold, Anne Louise Oaklander, Ruben A. Peredo‐Wende, Lynn Petruzzi, Mark A. Porter, Guada Respicio Duque, Tania Reyna, Nathaniel M. Robbins, Elliot D. Rosenstein, Laura Rosow, Breanna Ruthrauff, Amit Sachdev, Nora Sandorfi, Sarah Schafer, Elena Schiopu, Chokkalingam Siva, Daniel Small, Sara M. Stern, Lauren Stiles, Susan Stoddard, Jinny Tavee, Donald Thomas, Edward L. Treadwell, Nagagopal Venna, Steven Vernino, Frederick B. Vivino, Brittany Weber, Sepideh Yadollahi, Huiying Yu, Scott Zashin +88 morewiley +1 more sourceEmergency Care Handover (ECHO study) across care boundaries : the need for joint decision making and consideration of psychosocial history [PDF]
, 2013 Background: Inadequate handover in emergency care is a threat to patient safety. Handover across care boundaries poses particular problems due to different professional, organisational and cultural backgrounds.Apker, Arora, Banerjee, Behara, Bomba, Bost, Catchpole, Cheung, Cohen, Haig, Hilligoss, Hodges, Institute of Medicine, Johnson, Laurence Fitton, Mark A Sujan, Matthew Inada-Kim, Matthew W Cooke, Michelle Rudd, O'Leary, Patterson, Peter Chessum, Peter Spurgeon, Petersen, Pope, Pothier, Raduma-Tomas, Solet, Talbot, Ye +29 morecore +2 more sourcesDifferential 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 sourceEarly Scottish Monasteries and Prehistory: A Preliminary Dialogue [PDF]
, 2009 Reflecting oil the diversity of monastic attributes found in the east and west of Britain, the author proposes that prehistoric ritual practice was influential on monastic form. An argument is advanced that this was not based solely oil inspiration Front Carey John, Carver Martin, Carver Martin, Carver Martin, Félire Óengusso' Marc Schneiders, James Heather, Lowe, M. Parker Pearson, Macdonald Aidan, Martin Carver, Mitchell Frank, O'Sullivan J., Richter Michael, Sarah Foot Some, Why +14 morecore +1 more sourceRetractions in Rheumatology: Trends, Causes, and Implications for Research Integrity
Arthritis Care &Research, EarlyView.Objective
We aimed to describe the trends and main reasons for study retraction in rheumatology literature. Methods
We reviewed the Retraction Watch database to identify retracted articles in rheumatology. We recorded the main study characteristics, authors’ countries, reasons for retraction, time from publication to retraction, and trends over time ...Anna Maria Vettori, Michele Iudiciwiley +1 more source