نتایج جستجو برای: M694V

تعداد نتایج: 202  

2013
H Hayrapetyan G Amaryan A Yeghiazaryan T Sarkisian

Results Heterozygote carriers associated with abortive and mild FMF features is 18,72%, and 1.29% of patients with clinical features of FMF are without mutations. In some FMF patients “mild” MEFV mutations are associated with inflammatory attacks (P369S: 0.49%; E148Q: 5.09%; A744S: 0.74%). Genotypes E148Q/A744S and E148Q/P369S are found rarely. We have revealed the complex FMF cases with follow...

2014
Maka Ioseliani Maia Lekishvili Nunu Shelia

Results Of the 37 patients 19(52.8%) are females, 18(47.2%)are males and the age ranged from 2 to16. A positive family history of FMF was noted in 5(13.5%).Two patient has developed amyloidosis(mutationM694V/M694V). 27 of the patients had mutation M694V/M694V. 3 had mutation M680i/M694V. Another had M680I/M964V, M6801c/R761H, M680I/V726A, E148Q/M694V,M964V/ WT. We have not colchicines resistant...

2013
A Simonyan A Ayvazyan V Vardanyan L Kozlovskaya V Rameev

Methods 69 FMF patients (37 with amyloidosis, 32 – without amyloidosis) were investigated. All 69 patient underwent molecular-genetic investigation (PCR method), 9 different mutant combinations of MEFV gene were detected: 3 homozygous M694V/M694V(AA) in 25 patients, M680I/ M680I(CC) in 4, V726A/V726A(BB) in 1, 5 compound heterozygous M694V/V726A(AB) in 17, M694V/M680I (AC) in 9, V726A/M680I(BC)...

2015
S Abbara O Fain D Saadoun C Bachmeyer A Mekininan K Stankovic Stojanovic L Mouthon L Gilardin S Amselem G Grateau S Georgin-Lavialle

Results 16 patients (12H, 4F) with a median age of 41 years [2961] were included. Patients were Sefarad Jews (n=9), Turkish (n=2) and Arabic (n=5). Seven of them had a familial history of FMF, none had a familial history of auto-immune diseases. Their FMF was symptomatic during childhood except for two patients; most of them had colchicine. They displayed various type of vasculitis such as: HSP...

Journal: :The Israel Medical Association journal : IMAJ 2003
Nurit Zaks Yael Shinar Shai Padeh Merav Lidar Adam Mor Irena Tokov Mordechai Pras Pnina Langevitz Elon Pras Avi Livneh

BACKGROUND Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent attacks of fever and serositis. The disease is caused by mutations in the MEFV gene, presumed to act as a down-regulator of inflammation within the polymorphonuclear cells. OBJECTIVES To present the results of 412 FMF patients genotyped for three MEFV mutations, M694V, V726A and E148Q. RESUL...

ژورنال: :مجله دانشگاه علوم پزشکی اردبیل 0
فرهاد صالح زاده farhad salehzadeh department of pediatric rheumatology, bouali children’s hospital, ardabil university of medical sciences, ardabil, iranمرکز آموزشی درمانی بیمارستان بوعلی، دانشگاه علوم پزشکی اردبیل، اردبیل، ایران مرتضی اسلامی morteza eslami practitioner, bouali children’s hospital, ardabil university of medical sciences, ardabil, iranپزشکی عمومی، مرکز آموزشی درمانی بیمارستان بوعلی، دانشگاه علوم پزشکی اردبیل، اردبیل، ایران

زمینه و هدف: ﺗﺐ ﻣﺪﻳﺘﺮاﻧﻪ ای ﻓﺎﻣﻴﻠﻲ (fmf) ﻳﻚ ﺑﻴﻤﺎری خوداﻟﺘﻬﺎﺑﻲ و ﻋﻮدﻛﻨﻨﺪه اﺳﺖ ﻛﻪ اﻟﮕـﻮی ﺗﻮارﺛﻲ اﺗﻮزوﻣـﺎل ﻣﻐﻠﻮب دارد. ﻋﻼﻳﻢ اﻳﻦ ﺑﻴﻤﺎری ﻣﻲﺗﻮاﻧﺪ در ﺑﻴﺶ از 80 درصد در دهه اول زﻧﺪﮔﻲﺑﺮوز ﻛﻨﺪ. هدف از مطالعه حاضر معرفی fmf به عنوان یک بیماری شایع با ویژگی های خاص در این منطقه است. روش کار: این مطالعه از نوع مطالعه توصیفی میباشد. در این مطالعه اطلاعات پرونده 422 بیمار که بر اساس معیارهای تل- هاشومر مبتلا ...

2015
Ayse Kilic Muhammet Ali Varkal Mehmet Sait Durmus Ismail Yildiz Zeynep Nagihan Yürük Yıldırım Gorkem Turunc Fatma Oguz Mujgan Sidal Rukiye Eker Omeroglu Sevinc Emre Yasin Yilmaz Fatih Mehmet Kelesoglu Genco Ali Gencay Sonay Temurhan Filiz Aydin Emin Unuvar

BACKGROUND Familial Mediterranean fever (FMF) is one of the most frequent genetic diseases encountered in the Mediterranean region. We aimed to investigate the correlation between genetic mutations and the clinical findings in 562 patients with FMF. METHODS In this retrospective cross-sectional study conducted with patients' files between 2006, and 2013, reverse hybridization assay for MEFV g...

2015
N Mkrtchyan G Amaryan T Sarkisian

Results Coexistence of FMF and PFAPA was in 10 out of 28 patients (36%). They had earlier FMF onset (mean age of 1y. 3 mo.), frequent febrile attacks of abdominal pain and/or pleuritis, pericarditis (7 out of 10 patients), aphthous stomatitis (6 patients), tonsillitis with cervical lymphadenitis (9 children), as well as marked increase of acute inflammatory markers. An average age of PFAPA mani...

اسلامی, مرتضی, صالح زاده, فرهاد,

زمینه و هدف: ﺗﺐ ﻣﺪﻳﺘﺮاﻧﻪ ای ﻓﺎﻣﻴﻠﻲ (FMF) ﻳﻚ ﺑﻴﻤﺎری خوداﻟﺘﻬﺎﺑﻲ و ﻋﻮدﻛﻨﻨﺪه اﺳﺖ ﻛﻪ اﻟﮕـﻮی ﺗﻮارﺛﻲ اﺗﻮزوﻣـﺎل ﻣﻐﻠﻮب دارد. ﻋﻼﻳﻢ اﻳﻦ ﺑﻴﻤﺎری ﻣﻲﺗﻮاﻧﺪ در ﺑﻴﺶ از 80 درصد در دهه اول زﻧﺪﮔﻲﺑﺮوز ﻛﻨﺪ. هدف از مطالعه حاضر معرفی FMF به عنوان یک بیماری شایع با ویژگی های خاص در این منطقه است. روش کار: این مطالعه از نوع مطالعه توصیفی میباشد. در این مطالعه اطلاعات پرونده 422 بیمار که بر اساس معیارهای تل- هاشومر مبتلا ...

Journal: :The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2008
Mehmet Bektaş Irfan Soykan Deniz Gören Mehmet Altan Esin Korkut Hülya Cetinkaya Ali Ozden

Familial Mediterranean fever is an autosomal recessive disorder characterized by sporadic, paroxysmal attacks of fever and serosal inflammation. In Familial Mediterranean fever, peritoneal effusion during abdominal attacks is usually mild, is not detected by clinical evaluation, and disappears during clinical remission. Chronic ascites has rarely been described in patients with Familial Mediter...

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