Results 31 to 40 of about 33,369 (222)

Clinical and functional characterisation of a novel TNFRSF1A c.605T > A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment. [PDF]

, 2008
Objectives: To study the clinical outcome, treatment response, T-cell subsets and functional consequences of a novel tumour necrosis factor (TNF) receptor type 1 (TNFRSF1A) mutation affecting the receptor cleavage site.
B H Belohradsky, C Dejaco, C Duftner, K Huss, M Herold, M Schirmer, P Lohse, S Stojanov   +7 more
core   +1 more source

A patient with familial Mediterranean fever mimicking diarrhea-dominant irritable bowel syndrome who successfully responded to treatment with colchicine: a case report

Journal of Medical Case Reports, 2022
Background Irritable bowel syndrome is a functional gastrointestinal disease. Visceral hypersensitivity is the most important pathophysiology in irritable bowel syndrome. Currently, diagnosis of irritable bowel syndrome is based on symptoms and exclusion
Shima Kumei, Masatomo Ishioh, Yuki Murakami, Katsuyoshi Ando, Tsukasa Nozu, Toshikatsu Okumura   +5 more
doaj   +1 more source

MEFV gene mutations in neuro‐Behçet's disease and neuro‐Sweet disease

Annals of Clinical and Translational Neurology, 2019
Mediterranean fever (MEFV) gene mutations are associated with familial Mediterranean fever (FMF). Recent studies have suggested that MEFV gene mutations may act as disease modifiers in neuro‐Behçet's (NBD) disease and neuro‐Sweet disease (NSD).
Hidehiro Ishikawa, Akihiro Shindo, Yuichiro Ii, Dai Kishida, Atsushi Niwa, Yamato Nishiguchi, Keita Matsuura, Natsuko Kato, Akane Mizutani, Kei Tachibana, Yoshinori Hirata, Hirofumi Matsuyama, Ai Ogawa‐Ito, Akira Taniguchi, Hidekazu Tomimoto   +14 more
doaj   +1 more source

Familial Mediterranean Fever

Acta Medica, 2014
Familial Mediterranean Fever is an autosomal recessive inherited disease with a course of autoinflammation, which is characterized by the episodes of fever and serositis. It affects the populations from Mediterranean basin.
Adem Kucuk, Ilknur Albayrak Gezer, Ramazan Ucar, Ali Yavuz Karahan   +3 more
doaj   +1 more source

The AIM2 inflammasome is critical for innate immunity to Francisella tularensis. [PDF]

, 2010
Francisella tularensis, the causative agent of tularemia, infects host macrophages, which triggers production of the proinflammatory cytokines interleukin 1beta (IL-1beta) and IL-18. We elucidate here how host macrophages recognize F.
Alnemri, Emad S, Datta, Pinaki, Eisenlohr, Laurence, Fernandes-Alnemri, Teresa, Huang, Lan, Juliana, Christine, Kang, Seokwon, Landel, Carlisle P, McCormick, Margaret, McDermott, Erin, Solorzano, Leobaldo, Wu, Jianghong, Yu, Je-Wook   +12 more
core   +3 more sources

Sacroiliitis and Polyarteritis Nodosa in a Patient with Familial Mediterranean Fever

Case Reports in Medicine, 2016
Familial Mediterranean fever (FMF) is an autoinflammatory disorder with autosomal recessive inheritance, characterized by recurrent fever and episodes of serositis.
Yunus Ugan, Atalay Doğru, Hüseyin Şencan, Mehmet Şahin, Şevket Ercan Tunç   +4 more
doaj   +1 more source

Mediterranean fever gene mutation analysis in infertile Turkish males

Genetics and Molecular Research, 2010
Male infertility is a common barrier that prevents successful conception. There have been reports of azoospermia in men with familial Mediterranean fever, some of whom had not been treated with colchicine. Variation in this disorder could be a risk factor for amyloidosis associated with azoospermia.
E O, Etem, D, Erol, Y, Huseyin, A, Arslan   +3 more
openaire   +2 more sources

Familial Mediterranean Fever and E148Q Pyrin Gene Mutation in Greece

International Journal of Hematology, 2005
Familial Mediterranean fever (FMF) is an inherited disease characterized by recurrent inflammatory polyserositis. Although FMF is classically expected only in Middle East populations, it is becoming evident that the disease affects more groups than initially thought. The disease is associated with a number of mutations of the MEFV gene, which codes for
Konstantopoulos, K, Kanta, A, Lilakos, K, Papanikolaou, G, Meletis, I   +4 more
openaire   +3 more sources

Analysis of TNFRSF1A Gene R92Q Mutation in Familial Mediterranean Fever

International Journal of Human Genetics, 2014
This study examines the frequency of TNFRSF1A gene R92Q mutation in patients with Familial Mediterranean Fever (FMF) and the role of this mutation in FMF. The study included 223 FMF patients with definite diagnosis, according to Tel-Hashomer criteria, carrying two mutations and 205 FMF patients as controls (symptomatically diagnosed) with definite ...
Yuce M., Bagci H.
openaire   +3 more sources

Anesthesia experience along with familial Mediterranean fever and celiac disease [PDF]

, 2014
(Anesthetic management in patient with Familial Mediterranean Fever and Celiac Disease) Familial Mediterranean Fever is an autosomal recessive transmitted disease which often seen at Mediterranean origin society and it goes by deterioration at ...
Gülçin Hacıbeyoğlu, Hale Borazan, Mehmet Sargın, Şeref Otelcioğlu   +3 more
core   +1 more source