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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 (11-62)]. All the patients were questioned for the presence of concurrent disorders, and the medical records of these patients were revised retrospectively...
September 2016: Eur J Rheumatol
Z Birsin Özçakar, Suat Fitöz, Adalet Elçin Yıldız, Fatoş Yalçınkaya
There is limited number of publications about the use of non-invasive imaging modalities in the diagnosis of childhood polyarteritis nodosa (cPAN). The aim of this study was to present the clinical and imaging findings of the patients with cPAN who were diagnosed with non-invasive imaging techniques. Files of patients who had been diagnosed as cPAN in our department from 2005 to 2015 were reviewed, retrospectively. Demographic, clinical, laboratory, and imaging findings of the patients were evaluated. Nine patients (8M, 1F; age at disease onset: 12...
October 5, 2016: Clinical Rheumatology
Mette Christiansen, Sandra Ammann, Carsten Speckmann, Trine Hyrup Mogensen
A 16-year-old boy of Caucasian ethnicity was evaluated for recurrent febrile episodes occurring during most of his life without establishment of any microbial aetiology. During febrile episodes he developed extensive splenomegaly, lymphadenopathy, anaemia, severe abdominal pain and general malaise. Lymph node biopsies demonstrated inflammation and sinus histiocytosis but no malignancy or granuloma. The patient underwent seroconversion for Epstein-Barr virus (EBV) infection during the hospitalisation. Genetic testing identified a hemizygous frameshift mutation in the X linked inhibitor of apoptosis (XIAP)-gene as well as variants in the MEFV gene indicating Familial Mediterranean Fever (FMF)...
2016: BMJ Case Reports
Hafize Emine Sönmez, Ezgi Deniz Batu, Yelda Bilginer, Seza Özen
Familial Mediterranean fever (FMF) is inherited autosomal recessively; however, heterozygotes may express FMF phenotype. We aimed to define the characteristics of FMF patients heterozygous for MEFV (MEditerranean FeVer) mutations in whom colchicine was stopped after a period of treatment, with close follow-up. We reviewed the charts of 182 children who were heterozygous for MEFV variants. We excluded the patients (n = 34) heterozygous for MEFV variants of unknown significance and patients with typical periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome (n = 2)...
September 27, 2016: Clinical Rheumatology
Maryam Beheshtian, Nasim Izadi, Gernot Kriegshauser, Kimia Kahrizi, Elham Parsi Mehr, Maryam Rostami, Masoumeh Hosseini, Maryam Azad, Mona Montajabiniat, Ariana Kariminejad, Stefan Nemeth, Christian Oberkanins, Hossein Najmabadi
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder caused by mutations in the MEFV gene. The disease is especially common among Armenian, Turkish, Jewish and Middle East Arab populations. To identify the frequency and the spectrum of common MEFV mutations in different Iranian populations, we investigated a cohort of 208 unselected asymptomatic individuals and 743 FMF patients. Nine hundred and fifty-one samples were analysed for the presence of 12 MEFV mutations by PCR and reverse-hybridization (FMF StripAssay, ViennaLab, Vienna, Austria)...
September 2016: Journal of Genetics
H Latsoudis, M-F Mashreghi, J R Grün, H-D Chang, B Stuhlmueller, A Repa, I Gergiannaki, E Kabouraki, T Haeupl, A Radbruch, P Sidiropoulos, D Kardassis, D T Boumpas, G N Goulielmos
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent, acute and self-limiting attacks of fever. Mutations in MEFV gene encoding pyrin account for FMF but the high number of heterozygote patients with typical symptoms of the disease has driven a number of alternative aetiopathogenic hypotheses. The MEFV gene was knocked down in human myelomonocytic cells that express endogenous pyrin to identify deregulated microRNAs (miRNAs). Microarray analyses revealed 29 significantly differentially expressed miRNAs implicated in pathways associated with cellular integrity and survival...
September 16, 2016: Journal of Cellular Physiology
Salih Coşkun, Sefer Varol, Hasan H Özdemir, Sercan Bulut Çelik, Metin Balduz, Mehmet Akif Camkurt, Abdullah Çim, Demet Arslan, Mehmet Uğur Çevik
Migraine pathogenesis involves a complex interaction between hormones, neurotransmitters, and inflammatory pathways, which also influence the migraine phenotype. The Mediterranean fever gene (MEFV) encodes the pyrin protein. The major role of pyrin appears to be in the regulation of inflammation activity and the processing of the cytokine pro-interleukin-1β, and this cytokine plays a part in migraine pathogenesis. This study included 220 migraine patients and 228 healthy controls. Eight common missense mutations of the MEFV gene, known as M694V, M694I, M680I, V726A, R761H, K695R, P369S, and E148Q, were genotyped using real-time polymerase chain reaction with 5' nuclease assays, which include sequence specific primers, and probes with a reporter dye...
2016: Neuropsychiatric Disease and Treatment
Ahmet Karaarslan, Senol Kobak, Işın Kaya, Nazım Intepe, Mehmet Orman, Afig Berdelı
Gouty arthritis is a chronic erosive autoinflammatory disease. Pyrin has anti-inflammatory effects in the regulation of inflammasome and is encoded by the MEFV gene. The relationship between different rheumatic diseases and the MEFV gene mutations was demonstrated. The aim of this study was to determine the frequency of MEFV gene mutations in patients with gouty arthritis and identify a possible correlation with disease phenotype. Ninety-three patients with gouty arthritis and 102 healthy controls, compatible with age, gender and ethnicity, were included in the study...
November 2016: Rheumatology International
Per Wekell, Anna Karlsson, Anders Fasth, Stefan Berg
Familial Mediterranean fever - an important disease in a globalised world Familial Mediterranean fever (FMF) is characterized by recurrent febrile attacks during 1/2-3 days associated with peritonitis, pleuritis and arthritis. FMF is the most common monogenic autoinflammatory disease in the world, with over 100 000 affected individuals. It is particularly common in individuals with an origin in the eastern Mediterranean Basin, where the disease has a prevalence of 100-200 per 100 000. The gene for FMF (MEFV) was identified in 1997 with an autosomal recessive inheritance; however, a significant proportion (≈25%) of clinical patients lack two mutations...
2016: Läkartidningen
Mortaza Bonyadi, Mahdieh Younesi, Mandana Rafeey, Mahnaz Sadeghi Shabestari, Fakhrossadat Mortazavi
BACKGROUND/AIM: The aim of the current study was to screen the rate of MEFV mutations in Henoch-Schönlein purpura (HSP) and to investigate the association of these mutations plus clinical symptoms with HSP disease in the Iranian Azari Turkish ethnic group. MATERIALS AND METHODS: The study groups included 40 unrelated HSP patients and 200 apparently healthy people without any kind of inflammatory diseases as a control group. Molecular screening was performed for eight main mutations, namely M694V, M694I, M680I, V726A, E148Q, R761H, P396S, and R408Q, using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP), and sequencing...
2016: Turkish Journal of Medical Sciences
Jonas Bacelis, Julius Juodakis, Verena Sengpiel, Ge Zhang, Ronny Myhre, Louis J Muglia, Staffan Nilsson, Bo Jacobsson
BACKGROUND: Five-to-eighteen percent of pregnancies worldwide end in preterm birth, which is the major cause of neonatal death and morbidity. Approximately 30% of the variation in gestational age at birth can be attributed to genetic factors. Genome-wide association studies (GWAS) have not shown robust evidence of association with genomic loci yet. METHODS: We separately investigated 1921 Norwegian mothers and 1199 children from pregnancies with spontaneous onset of delivery...
2016: PloS One
Wenqing Gao, Jieling Yang, Wang Liu, Yupeng Wang, Feng Shao
Pyrin, encoded by the MEFV gene, is best known for its gain-of-function mutations causing familial Mediterranean fever (FMF), an autoinflammatory disease. Pyrin forms a caspase-1-activating inflammasome in response to inactivating modifications of Rho GTPases by various bacterial toxins or effectors. Pyrin-mediated innate immunity is unique in that it senses bacterial virulence rather than microbial molecules, but its mechanism of activation is unknown. Here we show that Pyrin was phosphorylated in bone marrow-derived macrophages and dendritic cells...
August 16, 2016: Proceedings of the National Academy of Sciences of the United States of America
Lacey S Williams, Hyung-Goo Kim, Vera M Kalscheuer, J Matthew Tuck, Lynn P Chorich, Megan E Sullivan, Allison Falkenstrom, Richard H Reindollar, Lawrence C Layman
BACKGROUND: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, or the congenital absence of uterus and vagina, is the most severe anomaly of the female reproductive tract. It affects 1 in 5,000 females, and is the second most common cause of primary amenorrhea. The etiology remains unknown in most patients, although four single gene defects and some repetitive copy number variants (CNVs) have been identified. Translocations in MRKH patients are very rare, and reported only in three patients previously without breakpoint mapping...
2016: Molecular Cytogenetics
Kiyoshi Migita, Yasumori Izumi, Yuka Jiuchi, Nozomi Iwanaga, Chieko Kawahara, Kazunaga Agematsu, Akihiro Yachie, Junya Masumoto, Keita Fujikawa, Satoshi Yamasaki, Tadashi Nakamura, Yoshifumi Ubara, Tomohiro Koga, Yoshikazu Nakashima, Toshimasa Shimizu, Masataka Umeda, Fumiaki Nonaka, Michio Yasunami, Katsumi Eguchi, Koh-Ichiro Yoshiura, Atsushi Kawakami
BACKGROUND: The aim of this study was to evaluate the clinical manifestations and prevalence of familial Mediterranean fever (FMF) in Japanese patients with unexplained fever and rheumatic manifestations. METHODS: We enrolled 601 patients with unexplained fever or suspected FMF throughout Japan between 2009 and 2015. Patients were divided into three groups according to Tel Hashomer criteria: sure FMF, probable FMF, and non-FMF patients, including definitive rheumatic diseases...
2016: Arthritis Research & Therapy
A Balkarli, M Akyol, E Tepeli, L Elmas, V Cobankara
OBJECTIVE: MEFV (Mediterranean fever) gene encoding pyrin regulates inflammatory responses. It has been shown that MEFV gene variations are associated with higher acute phase responses and altered course in the different inflammatory diseases. MEFV gene variations may affect the course of metabolic syndrome components. PATIENTS AND METHODS: This study included 50 patients with metabolic syndrome and 50 unrelated healthy controls. Genomic DNAs were isolated from patients and healthy controls with standard methods and analysis of exon 2 and 10 of MEFV gene was performed by using Sanger sequencing method...
July 2016: European Review for Medical and Pharmacological Sciences
Rezan Topaloglu, Ezgi Deniz Batu, Çigdem Yıldız, Emine Korkmaz, Seza Özen, Nesrin Beşbaş, Fatih Özaltın
AIM: Familial Mediterranean fever (FMF) results from MEFV gene mutations. E148Q is a variant of unknown significance in MEFV. We aimed to define characteristics of FMF patients homozygous for E148Q, check for other MEFV variants in a subgroup, and compare the characteristics with FMF patients carrying other mutations. METHODS: Thirty FMF patients homozygous for E148Q were reviewed. MEFV variant analysis was performed with strip assay. All MEFV exons were screened by direct DNA sequencing in 14 randomly selected E148Q/E148Q patients...
July 26, 2016: International Journal of Rheumatic Diseases
Jelena Milenković, Jelena Vojinović, Maruša Debeljak, Nataša Toplak, Dragana Lazarević, Tadej Avčin, Tatjana Jevtović-Stoimenov, Dušica Pavlović, Vladmila Bojanić, Maja Milojković, Gordana Kocić, Andrej Veljković
BACKGROUND: The Mediterranean fever (MEFV) gene codes for protein pyrin, one of the regulators of inflammasome activity in innate immune cells. Mutations in this gene are considered the primary cause of Familial Mediterranean fever, but are also found in other monogenic and multifactorial autoinflammatory diseases. The aim of the study was to determine if healthy carriers of MEFV gene mutations and R202Q polymorphism have clinical manifestations of inflammation and impaired oxidative stress parameters...
2016: Pediatric Rheumatology Online Journal
Nora S Ali, Julio C Sartori-Valinotti, Alison J Bruce
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome, the most common periodic disorder of childhood, presents with the cardinal symptoms of periodic fever, aphthous stomatitis, pharyngitis, and adenitis typically before age 5. This review presents the recent literature on PFAPA and summarizes key findings in the pathogenesis, evaluation, and treatment of the disease. Theories surrounding the pathogenesis of PFAPA include a faulty innate immunologic response in conjunction with dysregulated T-cell activation...
July 2016: Clinics in Dermatology
Faekah Gohar, Banu Orak, Tilmann Kallinich, Marion Jeske, Mareike Lieber, Horst von Bernuth, Arnd Giese, Elisabeth Weissbarth-Riedel, Johannes-Peter Haas, Frank Dressler, Dirk Holzinger, Peter Lohse, Ulrich Neudorf, Elke Lainka, Claas Hinze, Katja Masjosthusmann, Christoph Kessel, Toni Weinhage, Dirk Foell, Helmut Wittkowski
Objectives Familial Mediterranean Fever (FMF) is an autoinflammatory disorder caused by pyrin-encoding MEFV gene mutations. Patients present with recurrent but self-limiting episodes of acute inflammation and often have persistent subclinical inflammation. The pathophysiology is only partially understood, but neutrophil overactivation is a hallmark of the disease. S100A12 is a neutrophil-derived pro-inflammatory danger signal that is strongly elevated in active FMF. We characterised neutrophilic secretory activity in vitro and investigated the association of S100A12 with disease activity and genotype in FMF patients...
June 22, 2016: Arthritis & Rheumatology
Naoyasu Ueda, Hiroaki Ida, Masakazu Washio, Hisaaki Miyahara, Shoji Tokunaga, Fumiko Tanaka, Hiroki Takahashi, Koichi Kusuhara, Koichiro Ohmura, Manabu Nakayama, Osamu Ohara, Ryuta Nishikomori, Seiji Minota, Shuji Takei, Takao Fujii, Yoshiaki Ishigatsubo, Hiroshi Tsukamoto, Tomoko Tahira, Takahiko Horiuchi
Objectives A nationwide survey was conducted to elucidate the clinical and genetic features of patients with TNFRSF1A variants in Japan. Methods Inquiries were sent to 2,900 departments of internal medicine and pediatrics in all the hospitals with over 200 beds in Japan, asking whether they had patients suspected of having tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Genetic tests for TNFRSF1A, MEFV, and MVK were performed on 169 patients. Cell surface expression of TNFRSF1A variants was assessed using 293T cells...
June 22, 2016: Arthritis & Rheumatology
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