Results 201 to 210 of about 3,349,140 (303)

GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders. [PDF]

Orphanet J Rare Dis, 2023
Varesio C, De Giorgis V, Veggiotti P, Nardocci N, Granata T, Ragona F, Pasca L, Mensi MM, Borgatti R, Olivotto S, Previtali R, Riva A, Mancardi MM, Striano P, Cavallin M, Guerrini R, Operto FF, Pizzolato A, Di Maulo R, Martino F, Lodi A, Marini C.   +21 more
europepmc   +1 more source

Safety of Prescription Nonsteroidal Anti‐inflammatory Drugs in Adults With Inflammatory Bowel Disease: Data From a Large Administrative Claims Cohort

Arthritis Care &Research, EarlyView.
Objective The concern that nonsteroidal anti‐inflammatory drugs (NSAIDs) may precipitate flares of inflammatory bowel disease (IBD) has limited their use in managing musculoskeletal symptoms in those with IBD, but safety data are mixed. Methods This retrospective cohort study included patients with IBD aged at least 18 years from Optum's deidentified ...
Adam S. Mayer, Rui Xiao, Meenakshi Bewtra, Michael D. George, Pamela F. Weiss   +4 more
wiley   +1 more source

Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders. [PDF]

Int J Mol Sci
Megalizzi D, Trastulli G, Colantoni L, Proietti Piorgo E, Primiano G, Sancricca C, Caltagirone C, Cascella R, Strafella C, Giardina E.   +9 more
europepmc   +1 more source

Rare presentation of a rare bleeding disorder

Pediatric Hematology Oncology Journal, 2016
Vinay Kumar, G. Sushil, D. Tarangini, A. Shashidhar, Anand Prakash   +4 more
openaire   +3 more sources

The Lupus Damage Index Revision Program: Results From the Item Generation and Reduction Phases

Arthritis Care &Research, EarlyView.
Objective A data‐driven and expert/patient consensus‐based project to develop a revised Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) is under way supported by SLICC, ACR, and the Lupus Foundation of America. Our objective is to report the item generation and reduction phase results
Burak Kundakci, Megan R. W. Barber, Ann E. Clarke, Sindhu R. Johnson, Anselm Mak, Hermine I. Brunner, Murat Inanc, Rosalind Ramsey‐Goldman, Guillermo Ruiz‐Irastorza, Ellen M. Ginzler, John G. Hanly, Alexandra Legge, Cynthia Aranow, Laurent Arnaud, Nathalie Costedoat‐Chalumeau, Dafna D. Gladman, Søren Jacobsen, Michelle Petri, Clovis A. Silva, Évelyne Vinet, Alexandre E. Voskuyl, SDI Revision Literature Review Groups, SDI Revision Delphi Panel, SDI Revision Item Reduction Committee, SDI Revision Clinical Domain Groups, Ian N. Bruce   +25 more
wiley   +1 more source

Understanding the Burden of Orofacial Involvement and Patient Treatment Preferences in Systemic Sclerosis: Results From a Large International Survey

Arthritis Care &Research, EarlyView.
Objective Orofacial manifestations are significantly impactful in patients with systemic sclerosis (SSc) yet remain understudied, with no dedicated clinical guidelines to inform their management. Methods An international online survey comprised38 questions addressing orofacial manifestations of SSc, including patients’ confidence in their treating ...
Eleni Deligianni, Lee Shapiro, Deana Gibbs, Zsuzsanna H. McMahan, Michael Hughes   +4 more
wiley   +1 more source

Association of Elevated Platelets and C‐Reactive Protein With Severe Disease and Poor Survival in Systemic Sclerosis

Arthritis Care &Research, EarlyView.
Objective Elevated C‐reactive protein (CRP) levels in systemic sclerosis (SSc) have been linked with severe disease and worse survival, but the role of platelet levels remains unclear. This study examined whether elevated platelet levels, CRP levels, or both are associated with disease severity, progression, and survival in SSc.
Brian S. Lee, Shufeng Li, Srijana Davuluri, Jennifer Lee, Lorinda Chung   +4 more
wiley   +1 more source

Development of a Disease Activity Index for the Assessment of VEXAS Syndrome (VEXAS‐DAI)

Arthritis Care &Research, EarlyView.
Objective Vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS) syndrome is characterized by a complex spectrum of inflammatory and hematologic manifestations. Clinical research to identify effective therapies is urgently needed but is hindered by the lack of validated outcome measures.
Kevin Byram, Heřman Mann, Danielle Hammond, Onima Chowdhury, Sinisa Savic, Yohei Kirino, Carmelo Gurnari, Maël Heiblig, Thibault Comont, Arsène Mekinian, Mrinal M. Patnaik, Lachelle D. Weeks, Gary Ho, Adam Al‐Hakim, Scott Goldberg, Marcela A. Ferrada, Sophie Georgin‐Lavialle, Peter C. Grayson, Emma M. Groarke, Bhavisha Patel, Megan Sullivan, Sarah A. Buckley, Bryan G. Harder, Raman Garcha, David B. Beck, Matthew J. Koster   +25 more
wiley   +1 more source

Drug repurposing and phenotypic screening: innovative strategies for treating ultra-rare disorders. [PDF]

Front Med (Lausanne)
Paquot A, Deprez B, Beghyn T.
europepmc   +1 more source

Validation of Patient‐Reported Outcomes Measurement Information System (PROMIS) Pediatric Measures for Children With Chronic Nonbacterial Osteomyelitis

Arthritis Care &Research, EarlyView.
Objective To assess the validity of the Patient‐Reported Outcomes Measurement Information System (PROMIS) Pediatric measures in patients with chronic nonbacterial osteomyelitis (CNO). Methods Within the longitudinal patient registry of CNO, English‐speaking patients aged 8 years and older self‐reported PROMIS Pediatric measures of fatigue, pain ...
Mary M. Eckert, Eveline Y. Wu, Melissa Oliver, Joshua Scheck, Sivia Lapidus, Ummusen Kaya Akca, Shima Yasin, Aleksander Lenert, Sara Stern, Antonella Insalaco, Manuela Pardeo, Gabriele Simonini, Edoardo Marrani, Xing Wang, Bin Huang, Leonard K. Kovalick, Natalie Rosenwasser, Erin Balay‐Destrude, Gabriel Casselman, Adriel Liau, Ava Klein, Yurong Shao, Claire Yang, Molly Briggs, Ethan Mueller, Emily Deng, Paige Rhiannon Trunnell, Iris Hamilton, Elise Machrone, Doaa Mosad Mosa, Lori Tucker, Hermann Girschick, Ronald M. Laxer, Georgina Tiller, Jonathan Akikusa, Christian M. Hedrich, Karen Onel, Fatma Dedeoglu, Marinka Twilt, Seza Ozen, Polly J. Ferguson, Laura Schanberg, Bryce B. Reeve, Yongdong Zhao   +43 more
wiley   +1 more source