نتایج جستجو برای: m694v

تعداد نتایج: 202  

2013
B Aladbe A Aly R Taha H Elshanti T Moussa F Al Amry B Fathalla

Results Familial Mediterranean Fever: 30 symptomatic children, 9 asymptomatic carriers, and 21 adult relatives were included. Among symptomatic children, the male to female ratio was 1:1, 19 were Arabic, 8 were Persian, and 3 were Turkish/Arabic. Median age at first symptoms was 5 years (range 1 – 16 years). Most common manifestations included recurrent abdominal pain and fever (n=25), arthralg...

Journal: :Clinical chemistry 2003
Panagiotis Pantelidis Michelle Lambert-Hammill Anthony S Wierzbicki

References 1. The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25–31. 2. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997;90:797–807. 3. Cazeneuve C, Sarkisian T, Pecheux C, Dervichian M, Nedelec B, Reinert P, et al. MEFV-gene analysis i...

2014
Maria Tsinti Elena Tsitsami

Results The first case is son of a mother with FMF. He was diagnosed for FMF at the age of 3.5 years and since then he was successfully treated with colchicine. He was heterozygous for the V726A mutation and carrier of polymorphisms in exon 2 of the MEFV gene. The patient referred to our Unit at the age of 11 years because, during the last 5 years, he suffered recurrent respiratory infections (...

2015
M Michelson Chana Vinkler Dorit Lev

Sweet’s syndrome (SS) or acute febrile neutrophilic dermatosis is a rare disorder that often occurs in association with other systemic diseases. The disorder is characterized by development of nonpruritic, painful erythematous plaques with pseudovesicles, occasional pustules and rare bullae. SS consists of a triad of erythematous plaques infiltrated by neutrophils in association with fever and ...

Journal: :Annals of the Rheumatic Diseases 2023

Background The most common autoinflammatory disease which occurs in Armenian ethnos is familial Mediterranean fever (FMF). FMF a hereditary disorder characterized by recurrent attacks of and serosal inflammation. main clinical manifestations are fever, abdominal, chest joint pain, erysipelas-like skin lesion but also has lot other rare systemic manifestations. Sometimes it difficult to distingu...

Journal: :Annals of the Rheumatic Diseases 2021

Background: Systemic AA amyloidosis is a serious and life-threatening complication of chronic inflammatory diseases such as rheumatoid arthritis, spondyloarthritis (SpA), periodic fever syndromes. While most common cause Familial Mediterranean Fever; Ankylosing Spondylitis (AS) another frequent in Turkey. Objectives: We aimed to evaluate the response secukinumab (SEC) treatment three patients w...

Journal: :Annals of the Rheumatic Diseases 2023

Background Familial Mediterranean Fever (FMF) is a systemic autoinflammatory disease requiring lifelong treatment, characterized by recurrent episodes of fever, arthritis, and serositis. Recent studies denote an association between FMF behavioral disorders such as anxiety depression [1] . Further investigations are needed to have better understanding the relationship depression. Objectives In t...

Journal: :Annals of the Rheumatic Diseases 2021

Background: Few studies have focused on Familial Mediterranean Fever (FMF)-related AA amyloidosis and cardiovascular disease event risk. Systemic inflammation stimulates the development progression of atherosclerosis which is accelerated by vascular endothelial enhanced oxidative stress. Excessive reactive oxygen species (ROS) generation has been reported in FMF, correlated with attack severity...

Journal: :Annals of the Rheumatic Diseases 2021

Background: The rate of co-occurrence Familial Mediterranean Fever (FMF) and axial spondyloarthritis (axSpA) in adults is reported ranging from 0.5% to 7.5%. clinical implications this the course FMF still a research question. Objectives: To compare demographic features patients with FMF+axSpA. Methods: A total 9630 was detected according ICD-10 code (E85.0) Hacettepe University Hospital databa...

Journal: :Annals of the Rheumatic Diseases 2022

Background Amyloidosis is characterized by accumulation of insoluble fibrils composed different monomers in extracellular spaces organs, and demonstration deposits non-invasive methods important especially for organs difficult to sample. Transient elastography (Fibroscan) a diagnostic method measuring liver stiffness (LS) being used chronic diseases. Objectives We herein aimed search potential ...

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