نتایج جستجو برای: m694v

تعداد نتایج: 202  

Journal: : 2021

AMAÇ: Ailesel Akdeniz Ateşi (AAA), tekrarlayan, çoğu kez ateş yüksekliğinin eşlik ettiği periton, sinovya, plevra ve nadiren de perikardın tutulduğu kendi kendine iyileşen akut inflamasyon atakları ile ortaya çıkan otozomal resesif geçişli bir hastalıktır. Bu çalışmada Afyonkarahisar Sağlık Bilimleri Üniversitesi Tıp Fakültesi Çocuk Sağlığı Hastalıkları polikliniğinde izlenen AAA’li çocukların ...

2011
Onur Akin Erkan Demirkaya Adem Polat Ezgi Deniz Batu Yusuf Tunca Cengizhan Acikel Harun Peru Betul Sozeri Ismail Dursun Hakan Poyrazoglu Faysal Gok Seza Ozen

Results The mean age of disease onset was 5.1 ± 3.6 years and the mean age at diagnosis was 7.3 ±3.1 years. The mean number of attacks per year was 7.7 ± 7.8, the mean duration of attacks 1.7 ± 1.6 days. The most common clinical manifestations were fever (91.6%) and abdominal pain (90.3%). The other manifestations were arthralgia (44.1%), arthritis (18.6%), headache (17.3%), myalgia (15.6%), vo...

Journal: : 2022

Objectives: Familial Mediterranean Fever (FMF) is a self-limiting autoinflammatory disease. In order to better understand the prognosis of diseases, disease severity scores are used. The aim this study determine effect genetic mutations on in children with FMF. Methods: 303 patients between ages 0-18, who were diagnosed FMF according Yalçınkaya-Özen diagnostic criteria and whose gene analysis w...

2015
ZB Özçakar S Şahin-Kunt S Özdel F Yalçınkaya

Results The study group comprised 317 FMF patients (170 females, 147 males) with a mean age of 12.2 ± 5.7 years. The frequency of musculoskeletal complaints were as follows; arthritis 18%, arthralgia 43%, leg pain 43%, heel pain 36%, myalgia 8%, protracted arthritis 2%, protracted febrile myalgia 2%. Leg pain and heel pain were more frequently detected in patients with homozygous M694V (p<0.05)...

Journal: :Open Journal of Immunology 2022

Background: Familial Mediterranean fever (FMF) is an autoinflammatory genetic disorder that associated with different mutations. Frequency of clinical manifestation differs according to age group, geographic region and ethnic population. Objectives: To study the FMF in relation genotype (M680I, M694V, M694I V726A). Result: The main presentation studied group was abdominal pain 65.9% (203), foll...

2015
ZB Özçakar N Cakar N Uncu B Acar Celikel F Yalçınkaya

Background MEditerranean FeVer (MEFV) gene encodes for the pyrin protein and a mutated pyrin is associated with a prolonged or augmented inflammation. Hence, various diseases were reported to be associated with familial Mediterranean fever (FMF) or carriers of MEFV mutations. However, systematic evaluation of all associated diseases in children with FMF has not been done previously. Aim The a...

2015
Farhad Salehzadeh

Background. Familial Mediterranean fever (FMF) is a periodic AR autoinflammatory disorder. This comprehensive study describes FMF in Iran as a country near Mediterranean area. Materials and Methods. From the country FMF registration center 403 patients according to Tel-Hashomer criteria enrolled this study, 239 patients had MEFV gene mutations analyses. Data, if needed, was analyzed by SPSS v20...

2017
Linqing Zhong Hongmei Song Wei Wang Ji Li Mingsheng Ma

OBJECTIVE The aim of the current study was to determine the contributions of several common mutations in the Mediterranean fever (MEFV) gene, namely, E148Q, M680I, M694V and V726A, to ankylosing spondylitis (AS) susceptibility. METHODS Two investigators independently searched the literature regarding the association of MEFV with AS in the PubMed, EMBASE, Web of Science, and Scopus databases. ...

اسماعیلی, محسن, جبارپور بنیادی, مرتضی, رفیعی, ماندانا, سخا, کاظم, صمدی افشار, امیر,

Background and Objective: Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by self-limited episodes of fevere and painful recurrent polyserositis that predominantly affects Mediterranean races. In recent years some reports have shown high prevalence of FMF in North-west Iran, with M694V and E148Q being most frequent reported mutations. The aim of this study is...

2015
Ziyan Wu Shulan Zhang Jing Li Si Chen Ping Li Fei Sun Xiaoting Wen Wenjie Zheng Fengchun Zhang Yongzhe Li Graham R. Wallace

OBJECTIVE 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. However, no consensus has been reached. Here, a meta-analysis was conducted on published data to comprehensively evaluate this relationship. METHODS Literature ...

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