Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Bone Mineral Density in Egyptian Children with Familial Mediterranean Fever

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 re...

متن کامل

Genetic Analysis of Southwestern Iranian Patients with Familial Mediterranean Fever

Background: Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. Methods: To evaluate clinical symptoms and common genetic mutations in southwestern Iranian patients with FMF, 20 unrelated patients were enrolled in this study based on clinical criteria. A panel of 12 common ME...

متن کامل

Analysis of TNFRSF1A Gene R92Q Mutation in Familial Mediterranean Fever

This study examines the frequency of TNFRSF1A gene R92Q mutation in patients with Familial Mediterranean Fever (FMF) and the role of this mutation in FMF. The study included 223 FMF patients with definite diagnosis, according to Tel-Hashomer criteria, carrying two mutations and 205 FMF patients as controls (symptomatically diagnosed) with definite diagnosis but without any of the MEFV gene muta...

متن کامل

Pyrin Q148 mutation and familial Mediterranean fever.

Sir, Familial Mediterranean fever (FMF) is an auto-inflammatory disease with an autosomal recessive inheritance. Defects in the protein pyrin cause the characteristic attacks of the disease. 1,2 More than 20 mutations have been identified in the gene coding pyrin. Booth et al. 3 recently presented their studies in an interesting mutation, the E148Q mutation, in different populations. They have ...

متن کامل

Choroidal Changes in Patients with Familial Mediterranean Fever.

study by Gundogan et al. We only included the patients with both clinically and genetically diagnosed FMF. Thus, we think this lowers the false positive risk and increases the sensitivity of the study. We are wondering whether all patients in Gundogan et al.’s study had MEFV gene mutations, and if so, whether there was any genotype-phenotype correlation? Because M694V mutations, especially in a...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Aile Hekimliği ve Palyatif Bakım

سال: 2018

ISSN: 2458-8865

DOI: 10.22391/fppc.368676