Results 211 to 220 of about 138,687 (371)

American 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 more
wiley   +1 more source

Patients with RIFTD syndrome cystic fibrosis-like disorder: a report of two sibling cases. [PDF]

Gastroenterol Hepatol Bed Bench
Salehzadeh F, Babazadeh Khoei F, Amani F, Mardi A.   +3 more
europepmc   +1 more source

Pregnancy Outcomes in Women With Systemic Sclerosis Before and/or After Diagnosis and by Parity: A Swedish Population‐Based Cohort Study

Arthritis &Rheumatology, EarlyView.
Objective To assess risks of adverse pregnancy outcomes (APOs) in a contemporary cohort of women with systemic sclerosis (SSc) in relation to the timing of SSc diagnosis and by parity. Methods From the nationwide Swedish Medical Birth Register, we assembled pregnancies with births in women with SSc and in comparator women from the general population ...
Weng Ian Che, Luigi Annicchiarico, Laura Andreoli, Olof Stephansson, Marie Holmqvist, Karin Hellgren   +5 more
wiley   +1 more source

Delayed diagnosis of STAT1 gain-of-function variant in a patient with multiple endocrine autoimmunity and recurrent fungal infections. [PDF]

Endocrinol Diabetes Metab Case Rep
Sparanese S, Brager R, Fahmy D, Garkaby J.   +3 more
europepmc   +1 more source

Late‐Onset Spondylarthritis Presenting as Glucocorticoid‐Resistant Polymyalgia Rheumatica: A hitherto underappreciated entity where TNF or IL‐17 Blockade may have a Therapeutic Role

Arthritis &Rheumatology, Accepted Article.
Background Polymyalgia rheumatica (PMR) is an age‐related inflammatory disease with shoulder‐hip girdle involvement. Magnetic resonance imaging (MRI) reveals extracapsular/entheseal soft tissue involvements in both PMR and spondyloarthritis (SpA) with sacroiliac joint and peri‐entheseal spinal bone marrow oedema (BMO) being characteristic of SpA ...
Kerem Abacar, Gabriele De Marco, Jake Weddell, Katya Meridor, Tom Macleod, Andrew Scarsbrook, Kulveer Mankia, Edward Vital, Andrew Barr, Colin Pease, Helena Marzo‐Ortega, Sarah L. Mackie, Dennis McGonagle   +12 more
wiley   +1 more source

Heart transplantation in special patient populations. [PDF]

JHLT Open
Armstrong KR, Dipchand AI.
europepmc   +1 more source

Differences in IgG Sialylation Distinguish Asymptomatic from Symptomatic Anti‐Nuclear Antibody Positive Individuals

Arthritis &Rheumatology, Accepted Article.
Objective The transition from asymptomatic anti‐nuclear antibody (ANA) positivity to systemic autoimmune rheumatic disease (SARD) is associated with increased production of pro‐inflamamtory factors such as TNF‐α. Here we investigate whether the relative absence of inflammation in asymptomatic ANA+ individuals (ANA+NS) results from a lack of circulating
Carolina Muñoz‐Grajales, Carmen C. Ucciferri, Sindhu R. Johnson, Zahi Touma, Zareen Ahmad, Dennisse Bonilla, Linda T. Hiraki, Arthur Bookman, Joan E. Wither   +8 more
wiley   +1 more source

NOD2-mediated immune dysregulation linking hidradenitis suppurativa and Yao syndrome: Insights from 2 cases. [PDF]

JAAD Case Rep
Akpala C, Aghazadeh-Mohandesi N, Davis JM, Alavi A.   +3 more
europepmc   +1 more source

B cells and systemic sclerosis interstitial lung disease

Arthritis &Rheumatology, Accepted Article.
Interstitial lung disease is an important complication of systemic sclerosis (SSc‐ILD) with high mortality and morbidity. Recent clinical studies in SSc‐ILD have led to FDA‐approved therapies in SSc‐ILD. Importantly, evidence from these studies has been extrapolated to guide management of interstitial lung diseases of other systemic autoimmune ...
Nina Goldman, Voon Ong, Christopher Denton   +2 more
wiley   +1 more source

Recurrent Acrodermatitis Enteropathica in a Pediatric Patient: A Rare Case Report with Zinc Deficiency and Complications. [PDF]

Case Rep Dermatol
Hanan A, Rehman AU, Abdullah F, Anwar A, Umar M, Shafiq S, Rehman A, Iqbal J.   +7 more
europepmc   +1 more source