Results 51 to 60 of about 6,862 (214)

The effects of epigenetic regulation on phenotypic expressivity in Turkish patients with familial Mediterranean fever

Indian Journal of Rheumatology, 2019
Introduction: In this study, we aimed to characterize the effect of methylation on clinical diversity and gene expression levels in familial Mediterranean fever.
Eser Dogan, Semra Gursoy, Giray Bozkaya, Secil Arslansoyu Camlar, Ozge Aksel Kilicarslan, Alper Soylu, Ayfer Ulgenalp, Salih Kavukcu, Ozlem Giray Bozkaya   +8 more
doaj   +1 more source

The Role of NLRP1, AIM2 and MEFV Inflammasomes in the High‐Intensity Interval Training of Individuals With Obesity

Immunology, EarlyView.
This study shows that 8 weeks of high‐intensity interval training (HIIT) modulate inflammasome‐related gene expression in individuals with obesity. HIIT increased AIM2, MEFV, CARD16 and CARD18 expression, with CARD16 upregulation supporting reduced inflammation through inhibition of caspase‐1 activation and lower IL‐1β levels.
Ana Luíza Pereira Assunção Silveira, Daniela Alves de Abreu, Amanda de Lima Santos Musto, Luiz Henrique da Silva Nali, Jônatas Bussador do Amaral, André Luis Lacerda Bachi, Marina Tiemi Shio, Paula Rezende‐Teixeira, Carolina Nunes França   +8 more
wiley   +1 more source

MEFV Gene Mutation Analysis in Children with Immunoglobulin A Vasculitis and Its Effects on Clinical Manifestations: A Big Series from a Tertiary Center

Haseki Tıp Bülteni
Aim: Immunoglobulin A vasculitis (IgAV) is the most common vasculitis of childhood, but its pathogenesis is largely unknown, despite evidence pointing to various environmental and genetic factors. We investigated the frequency of MEFV gene mutations that
Sema Yildirim, Zeynep Karakaya, Ozlem Ozcay, Muferet Erguven   +3 more
doaj   +1 more source

Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn's disease and ulcerative colitis.

PLoS ONE, 2009
Background and aimsThe familial Mediterranean fever (FMF) gene (MEFV) encodes pyrin, a major regulator of the inflammasome platform controlling caspase-1 activation and IL-1beta processing. Pyrin has been shown to interact with the gene product of NLRP3,
Alexandra-Chloé Villani, Mathieu Lemire, Edouard Louis, Mark S Silverberg, Catherine Collette, Geneviève Fortin, Elaine R Nimmo, Yannick Renaud, Sébastien Brunet, Cécile Libioulle, Jacques Belaiche, Alain Bitton, Daniel Gaudet, Albert Cohen, Diane Langelier, John D Rioux, Ian D R Arnott, Gary E Wild, Paul Rutgeerts, Jack Satsangi, Séverine Vermeire, Thomas J Hudson, Denis Franchimont   +22 more
doaj   +1 more source

Unusual presentation of familial Mediterranean fever with co‐existing polyarteritis nodosa and acute post‐streptococcal glomerulonephritis

Clinical Case Reports, 2022
Acute post‐streptococcal glomerulonephritis (APSGN) and polyarteritis nodosa (PAN) may occur simultaneously after streptococcal infection in a child who is previously healthy but carries a Mediterranean fever (MEFV) mutation.
Yeşim Özdemir Atikel, Betül Emine Derinkuyu, Sevcan A. Bakkaloğlu   +2 more
doaj   +1 more source

TNF Inhibitor Therapy in Corticosteroid‐Resistant or ‐Dependent Pediatric Neutrophilic Dermatosis

Pediatric Dermatology, EarlyView.
ABSTRACT Neutrophilic dermatoses are rare in children. Systemic corticosteroids are the first‐line treatment, but guidelines for second‐line therapies are lacking. We report five cases of children with systemic steroid‐resistant/dependent neutrophilic dermatoses, successfully treated with tumor necrosis factor inhibitors.
Laure Chêne, Thomas Hubiche, Jean‐Marie De Guillebon, Maella Severino‐Freire, Emmanuelle Bourrat, Sébastien Barbarot, Alice Phan, Christine Chiaverini   +7 more
wiley   +1 more source

Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases [PDF]

, 2017
At the population level, rheumatoid arthritis (RA) is generally viewed as autoimmune in nature with a small subgroup of cases having a palindromic form or systemic autoinflammatory disorder (SAID) phenotype.
Barcenas-Morales, G, Doffinger, R, Emery, P, McGonagle, D, Mistry, A, Savic, S, Wilson, AG   +6 more
core   +1 more source

Adalimumab‐responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys‐Dietz Syndrome

DEN Open, Volume 6, Issue 1, April 2026.
ABSTRACT Loeys‐Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in TGFBR1 or TGFBR2. It is characterized by vascular fragility, skeletal abnormalities, and predisposition to allergic and inflammatory conditions, including monogenic inflammatory bowel disease (IBD).
Tomomitsu Sado, Satoshi Ukai, Shingo Kurasawa, Yosuke Kono, Norio Hasuda, Mai Iwaya, Takaya Nakane, Tomomi Yamaguchi, Tomoki Kosho, Yoshiko Nakayama   +9 more
wiley   +1 more source

Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study

The Turkish Journal of Pediatrics
Background. The aim of this study was to investigate whether a short exon screening consisting of selected variants could confirm the diagnosis in patients with a preliminary diagnosis of familial Mediterranean fever (FMF), thus providing a cost-saving ...
Betül Sözeri, Şengül Çağlayan, Taner Coşkuner, Yasemin Kendir-Demirkol   +3 more
doaj   +1 more source

Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease [PDF]

, 2013
Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF).
A.l.b.e.g.g.i.a.n.i. G, CARUSO, Calogero, Colomba, P, Duro, G., Gallizzi, R, Iemolo, F, Nuzzo, D, VASTO, Sonya, Zizzo, C   +8 more
core