Results 41 to 50 of about 14,042 (211)

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

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

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

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

A variant allele of the Mediterranean‐fever gene increases the severity of gout

International Journal of Rheumatic Diseases, 2016
AbstractBackgroundGout is a clinical syndrome that occurs as an inflammatory response to increased concentration of uric acid and monosodium urate crystals. Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance.
Balkarli, A., Balkarli, H., Kaya, A., Cobankara, V., Tepeli, Emre   +4 more
openaire   +4 more sources

Relationship of Tel Hashomer criteria and Mediterranean fever gene mutations in a cohort of Turkish familial Mediterranean fever patients

Saudi Medical Journal, 2006
To evaluate the frequency of 5 mutations and their relationship with the Tel Hashomer criteria in 85 FMF patients.We looked for mutations in the Mediterranean fever (MEFV) gene in 84 consecutive patients who admitted to the Department of Medical Genetics of Afyon Kocatepe University, with a variable (from high to low) clinical suspicion of FMF.
Samli, Hale, Dogru, Omer, Bukulmez, Aysegul, Yuksel, Erdinc, Ovali, Fahri, Solak, Mustafa   +5 more
openaire   +3 more sources

Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis [PDF]

, 2010
We report a 16-year-old female patient with a severe course of multiple sclerosis and concomitant symptoms suggestive of a hereditary autoinflammatory disease.
K Huss, R Hohlfeld, Kümpfel, T., T Kümpfel, Heinen, F., Mueller-Felber, W., A Blaschek, Blaschek, A., Huss, K., Hohlfeld, R., F Heinen, Blaschek, Astrid, Lohse, P., Borggraefe, I., P Lohse, W Mueller-Felber, I Borggraefe   +16 more
core   +1 more source

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

Letter to the Editor: Coexistence of Autoimmune Lymphoproliferative Syndrome and Familial Mediterranean Fever [PDF]

Iranian Journal of Immunology, 2020
Autoimmune lymphoproliferative syndrome (ALPS) is a rare inherited disorder of apoptosis, most commonly due to mutations in the FAS (TNFRSF6) gene. ALPS caused by defective lymphocyte homeostasis is characterized by non-malignant lymphoproliferation that
Sultan Aydin Koker, Nesrin Gulez, Frederic Rieux-Laucat, Ferah Genel, Canan Vergin, Capucine Picard   +5 more
doaj   +1 more source

Biomimetic Nanoparticle Delivering Colchicine to Target Endothelial Inflammation for Atherosclerosis Treatment

Advanced NanoBiomed Research, EarlyView.
Platelet membrane‐coated layered double hydroxide nanoparticles were engineered to target inflamed endothelium at early‐stage atherosclerosis and enhance therapeutic efficacy. The biomimetic platform improves stability, immune escape, and inflamed vascular cell targeting, resulting in reduced oxidative stress and downregulated adhesion molecules.
Xiuwen Zhang, Lingqing Zong, Ashish Misra, Sanjay Patel, Zi Gu   +4 more
wiley   +1 more source