Arthritis &Rheumatology, Volume 77, Issue 7, Page 817-826, July 2025.Objective The sparse effector “omnigenic” hypothesis postulates that the polygenic effects of common single nucleotide polymorphisms (SNPs) on a typical complex trait are mediated by trans effects that coalesce on expression of a relatively sparse set of core genes.
Athina Spiliopoulou +9 more
wiley +1 more source
A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients
Annals of Saudi Medicine, 2012 BACKGROUND AND OBJECTIVES: Familial Mediterranean fever (FMF) is an autosomal recessive disorder caused by mutations in MEFV gene, which encodes pyrin. FMF is especially prevalent among Turks, Armenians, non-Ashkenazi Jews, and Arabs.
Munis Dundar +7 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
Patients With IgA Vasculitis and Kawasaki Disease Show Dysregulated Interferon Signature
International Journal of Rheumatic Diseases, Volume 28, Issue 7, July 2025.ABSTRACT Objective IgA vasculitis (IgAV) and Kawasaki disease (KD) are the most common forms of childhood vasculitis. Although various factors such as viral infections, genetic factors, and environmental factors are involved in the development of both diseases, their pathogenesis remains unclear.
Sevki Erdem Varol +9 more
wiley +1 more source
Indices from flow-volume curves in relation to cephalometric, ENT- and sleep-O2 saturation variables in snorers with and without obstructive sleep-apnoea [PDF]
, 1995 In a group of 37 heavy snorers with obstructive sleep apnoea (OSA, Group 1) and a group of 23 heavy snorers without OSA (Group 2) cephalometric indices, ENT indices related to upper airway collapsibility, and nocturnal O2 ...
Bogaard, J.M. (Jan) +7 more
core +1 more source
OR2-002 – The risk of FMF in MEFV heterozygotes [PDF]
, 2013 International ...
E Cochet +9 more
core +3 more sources
Familial Mediterranean fever in northwest of Iran (Ardabil): The first global report from Iran [PDF]
Familial Mediterranean fever (FMF), which is the prototype of the hereditary periodic fever syndromes, is common in the countries around the Mediterranean Sea. Considering its geographical position in the northwest of Iran, with its population of Turkish
امامی, دینا +10 more
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Novel NLRP3/cryopyrin mutations and pro-inflammatory cytokine profiles in Behçet's syndrome patients [PDF]
, 2017 The role of mutations in NLRP3 in inflammatory features of Behçet's ...
Akdiş, Cezmi +8 more
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Arthritis &Rheumatology, Volume 77, Issue 5, Page 582-595, May 2025.Objective Adult‐onset Still disease (AOSD) is a systemic autoinflammatory disorder (AID) of unknown etiology. Genetic studies have been limited. Here, we conducted detailed genetic and inflammatory biomarker analysis of a large cohort with AOSD to investigate the underlying pathology and identify novel targets for potential treatment.
Joanne Topping +20 more
wiley +1 more source
A large pericardial effusion and bilateral pleural effusions as the initial manifestations of Familial Mediterranean Fever [PDF]
, 2015 Familial Mediterranean Fever (FMF) is a condition characterized by recurrent febrile poly-serositis. Typical presentations of the disease include episodes of fever, abdominal pain and joint pains. Chest pain is a less common presentation.
Cassar Demarco, Daniela +4 more
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