نتایج جستجو برای: ژن mefv

تعداد نتایج: 16785  

Journal: :The European respiratory journal 1997
J Hammer C J Newth

The forced deflation (FD) technique is the recommended gold standard to generate forced expiratory vital capacity (FVC) curves and to measure maximum expiratory flow-volume (MEFV) relationships in intubated infants and children. However, the influence of the endotracheal tube (ETT) on the site of flow limitation, the shape and the analysis of the resultant MEFV curves have not been defined. Nin...

2015
Yael Shinar Tali Tohami Avi Livneh Ginette Schiby Abraham Hirshberg Meital Nagar Itamar Goldstein Rinat Cohen Olga Kukuy Ora Shubman Yehonatan Sharabi Eva Gonzalez-Roca Juan I. Arostegui Gideon Rechavi Ninnette Amariglio Ophira Salomon

BACKGROUND A study was designed to identify the source of fever in a patient with post-polycythemia myelofibrosis, associated with clonal Janus Kinase 2 (JAK2) mutation involving duplication of exon 12. The patient presented with 1-2 day long self-limited periodic episodes of high fever that became more frequent as the hematologic disease progressed. METHODS After ruling out other causes for ...

Background Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder caused by mutations in the MEFV gene. The disease is especially common among Mediterranean ancestry, mostly Armenian, Turkish, Jewish and Arab populations. We aimed to describe genotype pattern of FMF in the Jordanian children and to compare it with other populations. Materials and Methods A retros...

Mahmoud Haghighat, Mozhgan Moghtaderi, Shirin Farjadian,

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...

abdi rad, isa, bagheri, morteza, Kavosi, Negin, khadem vatani, kamal, Mohammad Zad, Mir Hossein Seyed, rahimi, Behzad, Rostamzadeh, Alireza,

Background & Aims: Recent studies have shown that some of the MEFV gene mutations are common in patients with coronary artery disease. The present study was designed to investigate the presence or absence of E148Q mutation in exon 2 of MEFV gene in patients with premature coronary artery disease. Materials & Methods: In this study, 90 patients with coronary artery disease were voluntarily sele...

Journal: :European journal of rheumatology 2016
Sabri Güncan N Şule Y Bilge Döndü Üsküdar Cansu Timuçin Kaşifoğlu Cengiz Korkmaz

OBJECTIVE This study aimed to investigate the frequency in which familial Mediterranean fever (FMF) coexists with other diseases and determine whether Mediterranean fever (MEFV) gene mutations are involved in such coexistence. MATERIAL AND METHODS In total, 142 consecutive patients with FMF investigated for MEFV mutation were enrolled in this study [Female: 87; Male: 55, mean age 32±12 years ...

2017
Mike M Moradian Davit Babikyan Dion Banoian Hasmik Hayrapetyan Hakob Manvelyan Nareh Avanesian Tamara Sarkisian

BACKGROUND Familial Mediterranean Fever (FMF) is an autoinflammatory disorder caused by mutations in the MEFV gene. These mutations appear in different populations with different frequencies and their caused symptom severities vary from mild to moderate to severe depending on the mutation type. METHODS In this study, we analyzed the mutations that have been reported in the MEFV gene from symp...

Journal: :Pediatric Rheumatology 2013

Journal: :Pediatric Rheumatology 2013

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