Results 41 to 50 of about 6,939 (203)

MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura [PDF]

Pediatric Rheumatology, 2014
Due to an increased frequency of vasculitis in FMF patients, many investigators have studied MEFV mutations in patients with HSP. The aim of the study is to investigate the frequency and clinical significance of MEFV mutations in Egyptian children with Henoch-Schonlein purpura (HSP).
Samia Salah, Samia Rizk, Hayam M. Lotfy, Salma El Houchi, Huda Marzouk, Yomna Farag   +5 more
openaire   +2 more sources

Genetic loss of murine pyrin, the Familial Mediterranean Fever protein, increases interleukin-1β levels. [PDF]

PLoS ONE, 2012
Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disorder characterized by unprovoked episodes of fever and inflammation. The associated gene, MEFV (Mediterranean Fever), is expressed primarily by cells of myeloid lineage and encodes ...
Pamela R Hesker, MyTrang Nguyen, Martina Kovarova, Jenny P-Y Ting, Beverly H Koller   +4 more
doaj   +1 more source

PFAPA syndrome: a review on treatment and outcome. [PDF]

, 2016
The syndrome of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA syndrome) is the most common cause of periodic fever in childhood. The current pharmacological treatment includes corticosteroids, which usually are efficacious
Hofer, M., Theodoropoulou, K., Vanoni, F.   +2 more
core   +2 more sources

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. [PDF]

, 2015
PFAPA syndrome is the most common autoinflammatory syndrome in children from Western countries. In spite of its strong familial clustering, its genetic basis and inheritance pattern are still unknown.
Bedoni, N., Gioia, S.A., Hofer, M., Rivolta, C., Superti-Furga, A., Vanoni, F., von Scheven-Gête, A.   +6 more
core   +3 more sources

Idiopathic CRMO and MEFV Gene Variant Alleles: Is There Any Relationship?

Case Reports in Rheumatology, 2019
Background and Objective. CRMO is an inflammatory disease of bone that occurs more often in children. The clinical manifestations are intermittent fever, pain, and bone lesions, especially in long bones.
Farhad Salehzadeh, Hassan Anari, Sepehr Sarkhanloo   +2 more
doaj   +1 more source

Mediterranean fever gene mutations in patients with idiopathic mesangial proliferative glomerulonephritis [PDF]

Journal of Nephropathology, 2018
Background: Familial Mediterranean Fever (FMF) is the most common inherited autoinflammatory disease. Kidney involvement in FMF is usually attributed to secondary amyloidosis. Non-amyloid glomerular involvement has also been reported.
Jalal Etemadi, Taraneh Majidi, Roza Motavalli, Mortaza Bonyadi, Sepideh Zununi Vahed, Behzad Zaker, Mohammadreza Ardalan   +6 more
doaj   +1 more source

Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still’s disease [PDF]

, 2017
BackgroundHLA-DRB1 alleles are major determinants of genetic predisposition to rheumatic diseases. We assessed whether DRB1 alleles are associated with susceptibility to particular clinical features of adult onset Still’s disease (AOSD) in a Japanese ...
Asano Tomoyuki, Eguchi Katsumi, Fujikawa Keita, Furukawa Hiroshi, Ito Tomoyuki, Iwanaga Nozomi, Izumi Yasumori, Kawakami Atsushi, Kobayashi Daisuke, Kobayashi Hiroko, Koga Tomohiro, Migita Kiyoshi, Nakamura Tadashi, Nonaka Fumiaki, Ohira Hiromasa, Sato Shuzo, Shimizu Toshimasa, Suzuki Eiji, Tohma Shigeto, Tsuchiya Naoyuki, Ubara Yoshifumi, Ueki Yukitaka, Umeda Masataka, Watanabe Hiroshi, Yamasaki Satoshi, Yashiro Makiko, Yasunami Michio, Yoshiura Koh-ichiro, 古川 宏, 土屋 尚之   +29 more
core   +2 more sources

The relation of MEFV gene variants to clinical phenotype and selected laboratory markers in Egyptian patients with familial Mediterranean fever

Journal of the Arab Society for Medical Research
Background/aim Familial Mediterranean fever (FMF) is an autoinflammatory disease, with a high prevalence in the Mediterranean region. It is brought out by variants in the MEFV gene.
Hala T. El-Bassyouni, Ghada Nour Eldeen, Mona F. Sokkar, Mohamed B. Taher, Mohammed M. Sayed-Ahmed, Iman I. Salama, Hala M. Raslan   +6 more
doaj   +1 more source

Prediction of acute multiple sclerosis relapses by transcription levels of peripheral blood cells [PDF]

, 2009
Background The ability to predict the spatial frequency of relapses in multiple sclerosis (MS) would enable physicians to decide when to intervene more aggressively and to plan clinical trials more accurately.
Michael Gurevich, Tamir Tuller, Udi Rubinstein, Rotem Or-Bach, Anat Achiron, BM Conti-Fine, M Hutchinson, V Majithia, SB Hanauer, E McDonald, WI McDonald, WI McDonald, TF Scott, U Held, R Bergamaschi, R Bergamaschi, R Bergamaschi, BG Weinshenker, JG Phadke, B Runmarker, F Allantaz, O Oken, A Vojdani, A Martinez-Yelamos, A Martinez-Yelamos, T Berger, T Berger, J Kuhle, R Bergamaschi, M Sailer, A Achiron, SE Baranzini, M Filippi, WI McDonald, DM Wingerchuk, CJC Burges, T Dietterich, B Efron, S Geisser, R Paglinawan, JJ Bright, M Centola, W Cammer, J Cote, C Tissot, M Andrianifahanana, BW Baron, T Bouwmeester, A Deb, C Klein, Y Le, FM Batliwalla, CJ Barnes, Y Le, T Stasyk, IFNB Multiple Sclerosis Study Group E-U, (Commanditaire) IMSG, University of British Columbia MS/MRI Analysis Group E-UC, Group PPoRaDbIb-aSiMSS, Group UMMS, IFNB Multiple Sclerosis Study Group E-U, LD Jacobs   +59 more
core   +2 more sources

Identification of pathogenic MEFV variants in Korean patients with familial Mediterranean fever via whole-genome sequencing: a case report

Journal of Rheumatic Diseases
Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent episodes of fever, serositis, and arthritis. It is caused by variants in the MEFV gene, which encodes the pyrin protein.
Se Rim Choi, Christopher J. Yoon, Jeong Seok Lee, Young Seok Ju, Eun Young Lee   +4 more
doaj   +1 more source