Results 51 to 60 of about 181,043 (245)

Autoinflammatory diseases: a possible cause of thrombosis? [PDF]

, 2015
Autoinflammatory diseases are a group of disorders due to acquired or hereditary disfunction of innate immune system and characterized by systemic or localized manifestations. The prototype is Familial Mediterranean Fever, a monogenic hereditary disorder,
Manna, Raffaele, La Regina, Micaela, Francesco Orlandini, Micaela La Regina, Raffaele Manna   +4 more
core   +1 more source

Optimizing Hydroxychloroquine Blood Levels and Long‐Term Hydroxychloroquine Intake Could Lower Atherosclerotic Cardiovascular Disease Risk and Prevent Polypharmacy in Systemic Lupus Erythematosus

Arthritis Care &Research, EarlyView.
Objective Hydroxychloroquine (HCQ) is the cornerstone of systemic lupus erythematosus (SLE) management with benefits extending beyond SLE control, including protection against atherosclerotic cardiovascular disease (ASCVD). Although HCQ blood levels reflect recent exposure and long‐term intake reflects medication adherence, the impact of longitudinal ...
Shivani Garg, Murray Urowitz, Charlie Dentz, Niriti Adhikari, Fauzia Hollnagel, Nathalie Costedoat‐Chalumeau   +5 more
wiley   +1 more source

Autoinflammatory diseases in Pediatrics

Archivos Argentinos de Pediatria, 2013
Monogenic autoinflammatory syndromes are caused by mutations in protein-coding genes that have a pivotal role in the regulation of the inflammatory response. Due to their genetic nature, most of these syndromes usually begin during childhood. They are clinically characterized by recurrent episodes of systemic inflammation (fever with different clinical
Silvia M, Meiorin, Graciela, Espada, Carlos, Rosè   +2 more
openaire   +4 more sources

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

Being a Rheumatologist

Global Rheumatology, 2020
Whether a doctor for the rare, the frequent or the painful, a rheumatologist is a doctor with the knowledge necessary to develop the study, diagnosis and treatment of the inflammatory and mechanical musculoskeletal diseases, autoimmune and ...
Elias Forero Illera
doaj   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source

Mevalonate kinase deficiency: current perspectives

The Application of Clinical Genetics, 2016
Leslie A Favier, Grant S Schulert Division of Rheumatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA Abstract: Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of
Favier LA, Schulert GS
doaj  

Immune Deficiency and Autoinflammation, the " Yin" and " Yang" of the Immune System

罕见病研究
Inborn errors of immunity (IEI) are immune system disorders caused by genetic mutations, often presenting with varying degrees of infection, immune dysregulation, lymphoproliferation, and tumor susceptibility.
ZHOU Yu, SONG Hongmei
doaj   +1 more source

Colchicine – an effective treatment for children with a clinical diagnosis of autoinflammatory diseases without pathogenic gene variants

Pediatric Rheumatology Online Journal, 2021
Background Autoinflammatory diseases (AID) are rare chronic conditions with high disease burden, affecting children and adults. Clinically and genetically confirmed, AID can be effectively treated with targeted cytokine inhibition.
Tatjana Welzel, Anna L. Wildermuth, Norbert Deschner, Susanne M. Benseler, Jasmin B. Kuemmerle-Deschner   +4 more
doaj   +1 more source

Systemic autoinflammatory disorders

Clinical and Experimental Pediatrics, 2023
Inflammation is a physiologic defense mechanism against an out-side attack. Usually, it resolves after the removal of noxious causes, but systemic autoinflammatory disorders (SAIDs) have recurrent or repeated acute inflammation through uncontrolled gene function, which can present as gain-of-function or loss-of-function of a gene during inflammation ...
openaire   +3 more sources