نتایج جستجو برای: m694v

تعداد نتایج: 202  

2013
N Aktay Ayaz G Keskindemirci D Tugcu A Akçay E Aldemir G Aydogan

Case Report A 14 year-old girl was admitted to the hospital with the complaints of fever, fatique and weight loss of 12 kg in 2 months duration. She had been prescribed different antibitiocis for fever. Her laboratory work-up was as follows; Hb. 7.4 gr/dl, Hct 23%, wbc 6000/mm3, Plt 231000/mm3, ESR: 112 mm/hr, C-reactive protein: 52 mg/l, differential count and bone marrow aspiration was normal...

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...

Journal: :iranian journal of medical sciences 0
samia salah rheumatology department, abo el-rish children hospital, cairo university, giza, egypt sahar a el-masry biological anthropology department, medical research division, national research centre, giza, egypt hala fathy sheba clinical pathology department, kasr el-aini hospital, cairo university, giza, egypt rokia el banna biological anthropology department, medical research division, national research centre, giza, egypt walaa saad biological anthropology department, medical research division, national research centre, giza, egypt

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...

Background & objectives: MEFV gene has a major role in Familial Mediterranean Fever (FMF) as an auto-inflammatory disorder. FMF is most often seen in the people of the Mediterranean area. Considering the significant role of the MEFV gene in many rheumatologic diseases and even non-rheumatologic disorders, it is necessary to identify different variations of these mutations in the healthy and nor...

Journal: :Annals of the Rheumatic Diseases 2021

Background: Familial Mediterranean fever (FMF) is a monogenic inherited periodic syndrome presenting with episodes of self-limiting and inflammation serosal membranes. The attacks emerge arthritis were defined as one the major diagnostic criteria besides involvement Non-specific musculoskeletal findings such myalgia, arthralgia, transient synovitis, more rare manifestations like protracted febr...

Journal: :Annals of the Rheumatic Diseases 2023

Background Familial Mediterranean Fever (FMF) is a rare autosomal recessive illness of periodic fever syndrome that primarily affects the population [1]. No single specific diagnostic test exists to accurately diagnose FMF. Testing MEFV gene primary investigation choice support diagnosis FMF [2]. Little known regarding testing within Australian cohorts. Objectives We aim describe pattern orderi...

Journal: :Annals of the Rheumatic Diseases 2022

Background Familial Mediterranean fever (FMF) is an inherited autoinflammatory disease characterized by recurrent episodes of and serositis. Arthritis one the most common attack manifestations. in FMF usually form acute mono- or oligoarthritis large joints lower extremities. While attacks arthritis heal without causing permanent deformity, severe, long-lasting chronic can last for months even y...

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...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تبریز - دانشکده علوم طبیعی 1389

تب مدیترانه ای فامیلی یکی از بیماری های ژنتیکی است که به صورت اتوزومی مغلوب به ارث می رسد و از علائم بالینی بیماری می توان به سردرد های مکرر، درد شکم، درد قفسه سینه و التهاب مفاصل اشاره کرد. این بیماری، یک بیماری التهابی است و به گروهی از بیماری های التهابی ارثی نادر به نام بیماری های خودالتهابی (aids) تعلق دارد که در اثر رسوب آمیلوئیدوز a منجر به آسیب کلیه ها می شود. این بیماری فراوانترین تب ا...

Journal: :Clinical and experimental rheumatology 2002
E Ben-Chetrit S Urieli-Shoval S Calko D Abeliovich Y Matzner

BACKGROUND Traditionally, the diagnosis of familial Mediterranean fever (FMF) has been based on clinical manifestations and the physician's experience. Following the cloning of the gene associated with this disease (MEFV), genetic analysis of its mutations has become available, providing a new tool for the establishment or confirmation of the diagnosis of FMF. OBJECTIVES We analyzed the resul...

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