نتایج جستجو برای: ژن mefv

تعداد نتایج: 16785  

2008
A Vitale F La Torre C Caruso C Fede G Calcagno

Familial Mediterranean Fever (FMF) is an autosomal recessive disease (MEFV gene) characterized by recurrent fever and inflammatory serositis. Although majority of patients have random pattern of attacks, some reports described precipitating factors. A literature review indicated that FMF attacks occurring only during menstruation are rarely seen. We report the cases of three patients with sever...

2010
Ebru Etem Sukriye Derya Deveci Deniz Erol Huseyin Yuce Halit Elyas

Familial Mediterranean Fever (FMF) is an autoinflammatory periodic disorder. We aim to identify the distribution and the frequency of the Mediterranean Fever (MEFV) gene mutations in the east of Anatolia in Turkey and perform a genotype/phenotype correlation in the patients' cohort. The study was carried out on 415 clinically diagnosed Turkish FMF patients and 103 healthy controls. The tested i...

2016
Jun Hee Lee Jong Hyun Kim Jung Ok Shim Kwang Chul Lee Joo Won Lee Jung Hwa Lee Jae Jin Chae

Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF pr...

Journal: :The Netherlands journal of medicine 2008
M Tischkowitz

In their otherwise excellent review of familial Mediterranean fever (FMF), Lidar and Livneh argue against testing for Mediterranean fever gene (MEFV) mutations both in their diagnostic algorithm and in their subsequent discussion of the case. Although the clinical criteria for FMF are highly sensitive and specific, incorporation of genetic testing will not only confirm the diagnosis but adds va...

Journal: :Asian Pacific journal of allergy and immunology 2013
Yasutsugu Fukushima Kazuki Obara Hirokuni Hirata Kumiya Sugiyama Takeshi Fukuda Kazuhiko Takabe

Familial Mediterranean fever (FMF) is characterized by repeated episodes of fever, peritonitis, pleuritis, and synovitis. We describe here 3 Japanese patients (a mother and 2 children) in whom FMF was diagnosed on analysis of MEFV. A 40-year-old woman presented with fever and abdominal pain. The patient had had these symptoms on and off since childhood and consulted many hospitals. A 38-year-ol...

Journal: :Clinical and experimental rheumatology 2012
Y Berkun E Eisenstein E Ben-Chetrit

The last two years have been marked by many studies trying to better characterize the clinical features of FMF in children and proposal of new treatment for those who are resistant to colchicine. In addition, many studies tried to address the potential effect of genetic modifiers on FMF and the potential effect of MEFV mutations on other inflammatory diseases. The main points arose from these s...

Journal: :Turkish journal of medical sciences 2014
Hülya Sümer Çelebı Hilal Özdağ

BACKGROUND/AIM Sensitive and cost-effective detection of point mutations is important in genetics research. Denaturing high-performance liquid chromatography (DHPLC) is known to be one of the most sensitive techniques for point mutation detection. A more recent technique, high-resolution melting (HRM), is based on the melting behavior of PCR products. In this study, the efficiency and sensitivi...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تبریز - دانشکده علوم طبیعی 1391

تب مدیترانه ای فامیلی(fmf) یک بیماری ژنتیکی با الگوی وراثتی اتوزوم مغلوب می باشد که به صورت تب راجعه بوده و عمدتا مردم منطقه مدیترانه را تحت تاثیر قرار می دهد. از علائم این بیماری می توان به درد شکم, درد قفسه سینه, التهاب مفاصل و آمیلوئیدوز اشاره کرد. ژن مسئول این بیماری mefv می باشد که بر روی کروموزوم ??قرار گرفته است. پروتئینی که این ژن کد می کند پایرین نام دارد که دارای نقش ضد التهابی می باش...

2015
Kwang Taek Kim Hyun Joo Jang Jae Eun Lee Mi Kang Kim Jun Jae Yoo Gye Yeon Lee Sea Hyub Kae Jin Lee

Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among populations surrounding the Mediterranean Sea. FMF is the most prevalent autoinflammatory disease; is characterized by recurrent, self-limited episodes of fever with serositis; and is caused by Mediterranean fever gene (MEFV) mutations on chromosome 16. We describe a c...

Journal: :Thorax 1980
S Vulterini M R Bianco L Pellicciotti A M Sidoti

Fourteen subjects showing an increase of residual volume (RV) without any clinical or functional signs of bronchial obstruction were studied. Maximum expiratory flow volume (MEFV) curves were obtained with a pressure-corrected volume plethysmograph. Static pressure-volume curves were obtained by stepwise interruption of a slow expiration from total lung capacity (TLC) to RV. Static compliance w...

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