Results 151 to 160 of about 178,713 (349)
Electronic Health Records to Test Multimorbidity Influences to Plasma Biomarker Interpretation for Alzheimer's Disease
Annals of Neurology, EarlyView.Objective
Plasma biomarkers of Alzheimer's disease (AD) pathology are frequently tested in specialized research settings, which limits the generalizability of findings. Using electronic health records and banked plasma, we evaluated plasma biomarkers—phosphorylated tau 217 (p‐tau217), β‐amyloid 1–42/1–40 (Aβ42/Aβ40) and p‐tau217/Aβ42—in a real‐world ...Katheryn A.Q. Cousins, Rory Boyle, Colleen Morse, Anurag Verma, Christopher A. Brown, Kyra S. O'Brien, Marina Serper, Nadia Dehghani, Penn Medicine BioBank, Corey T. McMillan, Edward B. Lee, Leslie M. Shaw, David A. Wolk +12 morewiley +1 more sourceAmerican College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel
Arthritis &Rheumatology, EarlyView.Objective
Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.Arsene Mekinian, Sophie Georgin‐Lavialle, Marcela A. Ferrada, Sinisa Savic, Matthew J. Koster, Olivier Kosmider, Thibault Comont, Mael Heilblig, Juan I. Arostegui, Annmarie Bosco, Rim Bourguiba, Katherine R. Calvo, Catherine Cargo, Chiara Cattaneo, François Chasset, Henrique Coelho, Corrado Campochiaro, Francesca Crisafulli, Stephanie Ducharme‐Benard, Raquel Faria, Franco Franceschini, Micol Frassi, Emma M. Groarke, Carmelo Gurnari, Yervand Hakobyan, Yvan Jamilloux, Ciprian Jurcut, Yohei Kirino, Austin Kulasekararaj, Hiroyoshi Kunimoto, Lauren M. Madigan, Heřman F. Mann, Chiara Marvisi, Marcin Milchert, Sara Morais, Katja Sockel, Francesco Muratore, Hideaki Nakajima, Mrinal M. Patnaik, Luísa Regadas, Marie Robin, Abraham Rutgers, Carlo Salvarani, Anthony M. Sammel, Joerg Seebach, Pierre Sujobert, Alessandro Tomelleri, Geoffrey Urbanski, Frédéric Vandergheynst, Romana Vieira, David S. Viswanatha, Ewa Więsik‐Szewczyk, Elisa Diral, Benjamin Terrier, Bhavisha A. Patel, Pierre Fenaux, Peter C. Grayson, David B. Beck, on behalf of the International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases, Heřman Mann, Benjamin Terrier, François Chasset, Sophie Georgin Lavialle, Alessandro Tomelleri, Campochiaro Corrado, Carlo Salvarani, Francesca Crisafulli, Franco Franceschini, Micol Frassi, Yohei Kirino, Ewa Więsik‐Szewczyk, Marcin Milchert, Raquel Faria, Ciprian Jurcut, Joerg Seebach, Sinisa Savic, David Beck, Lauren Madigan, Matthew Koster, Patnaik Mrinal, Olivier Kosmider, Pierre Sujobert, Juan I. Arostegui, Catherine Cargo, David Viswanatha, Yervand Hagopian, Mael Heilblig, Pierre Fenaux, Thibault Comont, Bruno Alessandro, Chiara Cattaneo, Elisa Diral, Sara Morais, Austin Kulasekarara, Emma Groarke, Katherine Calvo, Patel Bhavisha, Anthony Sammel, Arsene Mekinian, Benjamin Terrier, Marie Robin, Sophie Georgin Lavialle, Katja Sockel, Yvan Jamilloux, Carmelo Gurnari, Henrique Coelho, Romana Vieira, Rim Bourguiba, Marcela Ferrada, Peter Grayson +111 morewiley +1 more sourceDecision tree analysis as a preliminary evidence‐based tool for identifying the syndrome of undifferentiated recurrent fever in children compared with hereditary recurrent fevers and periodic fever, aphthosis, pharyngitis and adenitis syndrome
Arthritis &Rheumatology, Accepted Article.Objective
To develop evidence‐based criteria to classify SURF patients. Methods
112 SURF patients followed in a single tertiary referral center were analyzed. Patients with genetically confirmed hereditary recurrent fever (HRF) or with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome already analyzed for the Eurofever classification Riccardo Papa, Francesca Bovis, Silvia Federici, Serena Palmeri, Marta Bustaffa, Giada Recchi, Roberta Bertelli, Roberta Caorsi, Stefano Volpi, Sabrina Fuehner, Veysel Cam, Anna Kozáková, Šárka Horáčková Fingerhutová, Antonella Insalaco, Dirk Foell, Seza Ozen, Isabella Ceccherini, Marco Gattorno, on behalf of the Eurofever study group for the Classification criteria of recurrent fevers and PerSAID project, Michael Hofer, Federica Vanoni, Jordi Anton, Juan Ignacio Arostegui, Karyl S. Barron, Eldad Ben‐Chetrit, Paul Brogan, Luca Cantarini, Isabella Ceccherini, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Joost Frenke, Raphaela Goldbach‐Mansky, Ahmet Gul, Veronique Hentgen, Hal M. Hoffman, Tilmann Kallinich, Isabelle Koné‐Paut, Jasmin Kuemmerle‐Deschner, Helen J. Lachmann, Ronald M. Laxer, Avi Livneh, Laura Obici, Dorota Rowczenio, Ricardo Russo, Yael Shinar, Anna Simon, Natasa Toplak, Isabelle Touitou, Yosef Uziel, Marielle van Gijn, Daniel L. Kastner, Alberto Martini, Maria Pia Sormani, Nicolino Ruperto +54 morewiley +1 more sourceOGFRL1 deficiency causes CRMO via pathological osteoclastogenesis, with therapeutic response to TNF inhibitor
Arthritis &Rheumatology, Accepted Article.Objectives
To verify the pathogenesis of the OGFRL1 loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a CRMO patient and investigate the underlying mechanism. Methods
Whole exome sequencing and Sanger sequencing were performed to identify and confirm the variant.Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, Ying Luo, Jinbo Wang, Jun Wang, Xiaomin Yu, Qing Zhou, Jun Yang +9 morewiley +1 more source
