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familial Mediterranean fever

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
Kristen Bova Campbell, Teresa A Cicci, Alyssa K Vora, Lindsey D Burgess
Colchicine is one of the oldest medications still in use today and is commonly used for the treatment of gout and familial Mediterranean fever. Its anti-inflammatory properties have raised the question of its utility in managing several cardiovascular diseases, including postoperative atrial fibrillation and pericarditis. This article will review the evidence for colchicine in these conditions and provide recommendations for use.
November 2015: Hospital Pharmacy
Shin-Ichi Nureki, Koji Ishii, Hideaki Fujisaki, Masataka Torigoe, Keisuke Maeshima, Hirotaka Shibata, Eishi Miyazaki, Jun-Ichi Kadota
A 42-year-old woman presented with an intermittent fever and chest and back pain, and an abnormal chest shadow was detected. She was diagnosed with paragonimiasis caused by Paragonimus westermani. Praziquantel therapy improved the abnormal chest shadow, but did not relieve her symptoms. She was also diagnosed with familial Mediterranean fever (FMF), and colchicine therapy resolved her symptoms. She subsequently developed arthralgia and morning stiffness in her hands. We also diagnosed the patient with rheumatoid arthritis (RA), and corticosteroid and salazosulfapyridine therapy improved her symptoms...
2016: Internal Medicine
Hakan Güneş, Tarık Kıvrak, Mustafa Tatlısu, Hakkı Kaya, Mehmet Birhan Yılmaz
OBJECTIVE: The aim of our study is to investigate the relationship between microalbuminuria and flow-mediated dilatation in familial Mediterranean fever (FMF) patients. MATERIAL AND METHODS: In our study, there were two groups consisting of 54 patients who were out of the attack period (43 of whom had no microalbuminuria and 11 of whom had microalbuminuria) and 40 healthy controls (M/F: 12/28). RESULTS: There was no statistically difference between patient and control groups'age (25...
June 2016: Eur J Rheumatol
Nele Schnipper, Hans H Stassen, Tilmann Kallinich, Karl Sperling, Katrin Hoffmann
The nuclear morphology of neutrophils depends on different endogenous and exogenous factors, which can lead to hypo- or hypersegmentation of the normally 2-4 segmented nucleus. Hyposegmentation can be due to mutations in the LBR-gene (Pelger-Huët-Anomaly) or can be induced, for example, by colchicine treatment. The range of this phenotypic variation is known as "norm of reaction", which can be of major relevance for clinical diagnosis and therapeutic intervention. In this project, we studied the "norm of reaction" in 26 subjects with 0-3 wild type LBR alleles...
September 29, 2016: Cytometry. Part B, Clinical Cytometry
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
Francesca Saccon, Mariele Gatto, Anna Ghirardello, Luca Iaccarino, Leonardo Punzi, Andrea Doria
Galectins are evolutionary conserved β-galactoside binding proteins with a carbohydrate-recognition domain (CRD) of approximately 130 amino acids. In mammals, 15 members of the galectin family have been identified and classified into three subtypes according to CRD organization: prototype, tandem repeat-type and chimera-type galectins. Galectin-3 (gal-3) is the only chimera type galectin in vertebrates containing one CRD linked to an unusual long N-terminal domain which displays non-lectin dependent activities...
September 23, 2016: Autoimmunity Reviews
Nikolaos K Gatselis, Panagiotis Skendros, Konstantinos Ritis, George N Dalekos
Familial Mediterranean fever (FMF) is characterised by recurrent, self-limited fever attacks and serositis. Severe liver involvement has rarely been reported. We present two FMF cases of a 55-year-old man and a 20-year-old woman in whom the prevailing manifestations were recurrent unexplained episodes of anicteric hepatitis (man) and recurrent severe jaundice (woman). A long-term history of recurrent self-limited episodes of fever was also claimed in both. After exclusion of infectious, malignant, autoimmune, and liver and biliary diseases, a diagnosis of FMF as confirmed by molecular analysis was established...
2016: BMJ Case Reports
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
Genevieve T Ostring, Davinder Singh-Grewal
Recurrent fever is a common presentation in paediatric practice and can be caused by a wide variety of diseases including autoinflammatory conditions. The innate immune system plays an essential role in the 'first line' response to infection through mediation of inflammatory responses. Inflammasomes are part of the regulatory process for this system and result in the production of the powerful pro-inflammatory cytokine interleukin-1B. Dysregulation of inflammasomes, and Interleukin 1 production, contributes to the pathogenesis of autoinflammatory diseases...
September 2016: Journal of Paediatrics and Child Health
Y Jamilloux, E Bourdonnay, M Gerfaud-Valentin, B F Py, L Lefeuvre, T Barba, C Broussolle, T Henry, P Sève
Interleukin-1 is a major cytokine of innate immunity and inflammation. It exerts various systemic effects during the inflammatory response, such as fever induction, thrombopoiesis and granulopoiesis, or leukocyte recruitment. Its involvement has been demonstrated in many inflammatory-mediated diseases, such as diabetes or gout. Moreover, interleukin-1 plays a pivotal role in some autoinflammatory diseases, such as cryopyrinopathies or familial Mediterranean fever. In these diseases, a constitutional defect of the inflammasome, a protein complex responsible for the activation of interleukin-1, explains the hypersecretion of interleukin-1...
September 14, 2016: La Revue de Médecine Interne
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
Dawood Yusef, Wasim Khasawneh
No abstract text is available yet for this article.
August 21, 2016: Pediatrics and Neonatology
A Kirbas, K Daglar, O Kirbas, C Koseoglu, O Kara, E Biberoglu, O Kurmus, C Yayla, N Danisman
OBJECTIVE: Familial mediterranean fever (FMF) is the most common auto-inflammatory disease that is characterized by recurrent, self-limited attacks of fever and serous membrane inflammation. Patients with inflammatory rheumatic diseases are considered to have a raised cardiovascular diseases risk. The aim of this study was to investigate; by means of P wave dispersion (Pd) and QT dispersion (QTd) parameters detected by simple standard electrocardiogram (ECG), atrial and ventricular repolarization changes in pregnant women with and without FMF...
August 2016: European Review for Medical and Pharmacological Sciences
Ruby Haviv, Philip J Hashkes
INTRODUCTION: Familial Mediterranean fever (FMF) is the most common hereditary autoinflammatory syndrome. The treatment of choice is colchicine. However, ~40% of patients are only partial responders and 5-10% are non-responders. Advances in the understanding of the role of pyrin in the regulation of interleukin (IL)-1β activation has led to use of anti-IL-1 agents for colchicine-resistant FMF. AREAS COVERED: The authors performed a literature search of anti-IL-1 treatment for FMF, particularly canakinumab, a humanized IL-1β antibody, by searching PubMed/Medline/Scopus since 2001 and proceedings of major rheumatologic conferences since 2011 for unpublished studies...
November 2016: Expert Opinion on Biological Therapy
Betul Sozeri, Nesrin Gulez, Malik Ergin, Erkin Serdaroglu
INTRODUCTION: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by self-limited recurrent attacks of fever and serositis. Patients may develop renal amyloidosis. Colchicine prevents attacks and renal amyloidosis. Five to 10 % of the patients with FMF are resistant or intolerant to colchicine. CASE DESCRIPTION: Herein, we reported our experience with clinical-laboratory features and treatment responses of a pediatric FMF patient with amyloidosis treated with canakinumab...
December 2016: Molecular and Cellular Pediatrics
Tal Eidlitz-Markus, Shirit Zolden, Yishai Haimi-Cohen, Avraham Zeharia
OBJECTIVE: To compare comorbidities between migraine and tension headache in patients treated in a tertiary pediatric headache clinic. METHODS: Files of patients with migraine or tension headache attending a pediatric headache clinic were retrospectively reviewed for the presence of organic comorbidities. Additionally, patients were screened with the self-report Strengths and Difficulties Questionnaire to identify nonorganic comorbidities. If necessary, patients were referred to a pediatric psychiatrist, psychologist or social worker for further evaluation...
September 1, 2016: Cephalalgia: An International Journal of Headache
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
Alexander J Rodríguez
No abstract text is available yet for this article.
July 21, 2016: Anatolian Journal of Cardiology
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