Results 61 to 70 of about 1,294,883 (245)
Familial Mediterranean fever without MEFV mutations: a case–control study [PDF]
Orphanet Journal of Rare Diseases, 2015 Although familial Mediterranean fever (FMF) was originally defined as an autosomal recessive disorder, approximately 10-20% of FMF patients do not carry any FMF gene (MEFV) mutations. Fine phenotype characterization may facilitate the elucidation of the genetic background of the so called "FMF without MEFV mutations".
Ben-Zvi, Ilan +5 more
openaire +2 more sources
A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever
Reumatismo, 2019 Familial mediterranean fever (FMF) is an inherited autoinflammatory disorder characterized by recurrent episodes of fever and painful inflammation involving the intra-abdominal organs, the lungs and the joints, which is highly prevalent in specific ...
S. Farjadian +9 more
doaj +1 more source
Association between MEFV Mutations M694V and M680I and Behçet's Disease: A Meta-Analysis. [PDF]
PLoS ONE, 2015 Several studies have identified an association between Behçet's disease (BD) and mutations in the Mediterranean fever (MEFV) gene, which was originally linked to the autosomal recessive disease, Familial Mediterranean fever.
Ziyan Wu +9 more
doaj +1 more source
PFAPA syndrome: a review on treatment and outcome. [PDF]
, 2016 The syndrome of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA syndrome) is the most common cause of periodic fever in childhood. The current pharmacological treatment includes corticosteroids, which usually are efficacious
Hofer, M. +2 more
core +2 more sources
Life, 2022 Cardiovascular disease (CVD) remains underestimated in familial Mediterranean fever-associated AA amyloidosis (FMF-AA). We aimed to compare early markers of endothelial dysfunction and atherosclerosis in FMF-AA with a homozygous M694V mutation (Group 1 =
S. Şahin +9 more
semanticscholar +1 more source
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 +8 more
wiley +1 more source
Molecular Biology Reports, 2021 Familial Mediterranean Fever (FMF), which is an autosomal recessive disease characterized by recurrent self-limiting fever, peritonitis, pleuritis, arthritis and erysipelas-like erythemas, has been common among ethnic groups such as Turkish, Armenian ...
A. Arpacı +4 more
semanticscholar +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 +7 more
wiley +1 more source
MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura [PDF]
Pediatric Rheumatology, 2014 Due to an increased frequency of vasculitis in FMF patients, many investigators have studied MEFV mutations in patients with HSP. The aim of the study is to investigate the frequency and clinical significance of MEFV mutations in Egyptian children with Henoch-Schonlein purpura (HSP).
Samia Salah +5 more
openaire +2 more sources
Concomitance of Familial Mediterranean Fever and Gitelman syndrome in an adolescent
The Turkish Journal of Pediatrics, 2019 Gitelman syndrome is a renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. Patients occasionally have symptoms in childhood, while diagnosis is often in adulthood.
Bahriye Atmış +6 more
doaj +1 more source