نتایج جستجو برای: m694v

تعداد نتایج: 202  

Journal: :European journal of rheumatology 2015
Fatma Duksal Demet Alaygut Ahmet Sami Güven Mahmut Ekici Mehmet Burhan Oflaz Rukiye Tuncer Ömer Cevit

OBJECTIVE The aim of present study was (a) to evaluate the relationship between the neutrophil/lymphocyte (N/L) ratio and mutation types of familial Mediterranean fever (FMF) in children and (b) to evaluate the relationship between the N/L ratio and age. MATERIAL AND METHODS Three hundred forty-three children with familial Mediterranean fever in the attack-free period and 283 healthy control ...

2013
Sedat Yilmaz Hakan Erdem Servet Tunay Deniz Torun Halil Genc Yusuf Tunca Omer Karadag Ismail Simsek Muhterem Bahce Salih Pay Ayhan Dinc

BACKGROUND/AIMS Chronic arthritis of familial Mediterranean fever (FMF) involves weight-bearing joints and can occur in patients without a history of acute attack. Our aim was to investigate a possible causal relationship between FMF and osteoarthritis in a population in which FMF is quite common. METHODS Patients with late stage primary osteoarthritis were enrolled, and five MEFV gene mutati...

2016
Salih Coşkun Sefer Varol Hasan H Özdemir Sercan Bulut Çelik Metin Balduz Mehmet Akif Camkurt Abdullah Çim Demet Arslan Mehmet Uğur Çevik

Migraine pathogenesis involves a complex interaction between hormones, neurotransmitters, and inflammatory pathways, which also influence the migraine phenotype. The Mediterranean fever gene (MEFV) encodes the pyrin protein. The major role of pyrin appears to be in the regulation of inflammation activity and the processing of the cytokine pro-interleukin-1β, and this cytokine plays a part in mi...

2013
A Beglaryan K Ginosyan A Ayvazyan

Results Classical symptoms of FMF: abdominalgy, thoracalgy, arthralgy with recurrent fever and pleuritis, splenomegaly, hepatomegaly were seen in almost all patients. Monoarthritis was met in 36 (72%) and polyarthritis in 8(16%) patients. 40(80%) patients developed spondyloarthrtitis, in 11 cases (22%) unilateral sacroiliitis and in 29(58%) bilateral sacroiliitis was observed. All patients with...

2016
Alireza KHABBAZI Farideh ZOLRAHIM Mehrdad ASGHARI ESTIAR Ebrahim SAKHINIA Sousan KOLAHI

Some genes have an unproven role in the pathogenesis of Rheumatoid arthritis (RA). One of these suspected genes is the Mediterranean fever (MEFV) gene. MEFV is responsible for familial Mediterranean fever (FMF). Currently, more than 100 FMF-associated mutations of the MEFV gene have been identified. With most located on exon 10, five of these: E148Q, M680I, M694V, M694I, and V726A account for m...

Journal: :The Eurasian journal of medicine 2010
Mustafa Keles Nilnur Eyerci Abdullah Uyanik Bulent Aydinli Gonul Zisan Sahin Ramazan Cetinkaya Ibrahim Pirim Kamil Yalcin Polat

OBJECTIVE Our goal is to investigate the distribution of MEFV mutations in patients with renal amyloidosis who are in renal transplant waiting list which is prepared for transplantation. MATERIALS AND METHODS FMF was diagnosed in 25 of the 297 patients between the years 2004 and 2008, who were involved in the study (15 male, 10 female; age 34±7.8). 5 out of 25 patients were transplanted, rema...

2015
H Ozdogan S Ugurlu A Hacioglu E Tahir Turanli A Kirectepe Aydin

Case A patient with juvenile onset recurrent febrile attacks associated with familial polyarteritis nodosa (PAN) and who carries CECR1 and MEFVgene mutations is described. The index case, a 23 year old male patient with recurrent attacks of fever and arthritis since the age of 7 was diagnosed initially as Familial Mediterranean Fever (FMF). A beneficial response to treatment with colchicine was...

2015
Ali Taylan Oguz Gurler Burak Toprak Ali Riza Sisman Hulya Yalcin Ayfer Colak Ismail Sari

Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterised by periodic inflammatory attacks. We investigated changes in monocyte-granulocyte derived S10012A and chitotriosidase in both the attack and silent period of FMF for better estimation of inflammation. Endogenous resolvin was determined for utility to restrict inflammation. This study included 29 FMF patients (15 M/...

2016
Samia Salah Sahar A El-Masry Hala Fathy Sheba Rokia A El-Banna Walaa Saad

BACKGROUND Familial Mediterranean fever (FMF) has episodic or subclinical inflammation that may lead to a decrease in bone mineral density (BMD). The objective of this study was to assess BMD in Egyptian children with FMF on genetic basis. METHODS A cross sectional study included 45 FMF patients and 25 control children of both sexes in the age range between 3-16 years old. The patients were r...

2014
Hilmi TOZKIR Hakan GÜRKAN Neşe ÖZKAYIN Necdet SÜT

©2014 Turkish League Against Rheumatism. All rights reserved. Objectives: This study aims to investigate the possible relationship between Mediterranean fever (MEFV) gene mutations and messenger ribonucleic acid (mRNA) expressions and to identify the link between phenotype and genotype of pediatric patients with Familial Mediterranean fever (FMF). Patients and methods: Seventy-one pediatric FMF...

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