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Tel-Hashomer criteria

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https://www.readbyqxmd.com/read/30294346/is-there-any-relationship-between-human-foamy-virus-infections-and-familial-mediterranean-fever
#1
Melek Yüce, Hasan Bagci, Kuddusi Cengiz
Background: Familial Mediterranean fever (FMF) is generally defined as an autosomal recessive disease, characterized by the automatic activation of the innate immune system in the absence of a detectable pathogenic stimulant. We hypothesize that the pathogenic factors, besides the genetic causes, may affect the development of FMF symptoms. To test this hypothesis, we examined the effects of human foamy virus (HFV) positivity on the occurrence of the clinical symptoms of FMF. Materials and Methods: Two hundred and twenty-two FMF patients with definitive diagnosis according to Tel Hashomer criteria (study group 1 [SG1]), 205 symptomatic FMF patients who had definitive diagnosis according to the same criteria but did not carry any of the 12 most commonly occurring MEFV gene mutations (study group 2 [SG2]), and 200 healthy individuals were included as control group (study group 3 [SG3]) in the study...
2018: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/30284126/clinical-and-demographic-evaluation-according-to-mefv-genes-in-patients-with-familial-mediterranean-fever
#2
Ergün Sönmezgöz, Samet Özer, Ali Gül, Resul Yılmaz, Tuba Kasap, Şahin Takcı, Rüveyda Gümüşer, Osman Demir
The present study examined the relationship between clinical findings and mutation analyses in children with Familial Mediterranean Fever (FMF) in the inner Black Sea region of Turkey. This retrospective, cross-sectional study included patients with FMF who were evaluated between 2007 and 2015. FMF was diagnosed according to the Tel Hashomer criteria. FMF mutations were analyzed using a Real-time PCR System (Roche Diagnostics, Mannheim, Germany), and patients were classified into three groups according to allele status...
October 3, 2018: Biochemical Genetics
https://www.readbyqxmd.com/read/30085313/familial-mediterranean-fever-in-chinese-adult-patients
#3
Di Wu, Min Shen, Xiaofeng Zeng
Objectives: FMF is the most frequent monogenic auto-inflammatory disease worldwide. There have been hardly any cases reported in the Chinese population. We aimed to describe the first cohort of adult FMF patients in China. Methods: We evaluated all the adult patients suffering from FMF referred to our centre from April 2015 through March 2017. Patients were diagnosed clinically according to the Tel Hashomer criteria. Whole exome sequencing was performed in each patient...
August 2, 2018: Rheumatology
https://www.readbyqxmd.com/read/30062447/on-demand-use-of-anakinra-for-attacks-of-familial-mediterranean-fever-fmf
#4
Hakan Babaoglu, Ozkan Varan, Hamit Kucuk, Nuh Atas, Hasan Satis, Reyhan Salman, Mehmet Akif Ozturk, Seminur Haznedaroglu, Berna Goker, Abdurrahman Tufan
To evaluate the efficacy of on-demand use of anakinra in patients with crFMF. The Gazi FMF cohort was established in the year 2010, and from that date, 689 patients with FMF diagnosed according to the Tel Hashomer criteria were registered. Attack type, duration, severity, and their impact on life were collected either by disease diaries or a mobile phone application (FMF AIDD, AppStore, and Playstore). A retrospective cohort analysis was made from records of patients who have ever been treated with IL-1 inhibitors...
July 30, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29876233/increased-frequency-of-mefv-genes-in-patients-with-epigastric-pain-syndrome
#5
Coskun Bd, Kiraz A, Sevinc E, Baspinar O, Cakmak E
Atypical clinical forms of familial Mediterranean fever (FMF) can be misdiagnosed as therapy-resistant epigastric pain syndrome (EPS) for they share many of the same clinical features, such as abdominal pain. Thus, we aimed to determined the frequency of FMF in patients who were followed with a diagnosis of therapy-resistant EPS. Seventy-five patients with therapy-resistant EPS and 20 controls were involved in the study. To detect the FMF in patients with therapy-resistant EPS, Tel-Hashomer criteria, family history of FMF were researched and recorded...
December 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/29543225/clinical-and-genetic-heterogeneity-in-a-large-cohort-of-armenian-patients-with-late-onset-familial-mediterranean-fever
#6
Gernot Kriegshäuser, Dietmar Enko, Hasmik Hayrapetyan, Stepan Atoyan, Christian Oberkanins, Tamara Sarkisian
PurposeThis work aimed at investigating demographic, clinical, and genetic characteristics of individuals experiencing their first familial Mediterranean fever (FMF) attack at age ≥40 years in a very large cohort of Armenian FMF patients.MethodsIn total, 10,370 Armenian patients diagnosed with FMF based on the Tel Hashomer criteria and carrying at least one MEFV mutant allele were included in this study.ResultsA total of 354 (3.40%) patients had late-onset FMF. Of these, 194 (54.80%) were female and 160 (45...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29452306/boundaries-between-familial-mediterranean-fever-and-juvenile-spondyloarthritis-analysis-of-three-french-retrospective-cohorts
#7
Bilade Cherqaoui, Linda Rossi-Semerano, Sophie Georgin-Lavialle, Perrine Dusser, Caroline Galeotti, Maryam Piram, Véronique Hentgen, Isabelle Touitou, Isabelle Koné-Paut
OBJECTIVES: Children with Familial Mediterranean fever may suffer from musculoskeletal involvement, somewhat difficult to distinguish from juvenile spondyloarthritis. The association of these two diseases has been scarcely reported in children. Objective of this work was to define the association of familial Mediterranean fever and juvenile spondyloarthritis in France. METHODS: Three cohorts of children with familial Mediterranean fever, juvenile spondyloarthritis, familial Mediterranean fever related juvenile spondyloarthritis, were retrospectively identified in the French reference center of auto-inflammatory diseases...
February 13, 2018: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/29345845/atypical-familial-mediterranean-fever-developed-in-a-long-term-hemodialysis-patient
#8
Toshiyuki Makino, Yoshitatsu Ohara, Namiko Kobayashi, Yohei Kono, Ayumu Nomizu, Mariko Ichijo, Yutaro Mori, Noriaki Matsui, Dai Kishida, Takayuki Toda
Familial Mediterranean Fever (FMF) is usually an autosomal recessive autoinflammatory disease characterized by recurrent attacks of fever and serositis. FMF develops before the age of 20 years in 90% of patients. It has intervals of 1 week to several years between attacks, which leads to renal dysfunction-amyloidosis. We report a case of atypical FMF that developed in a long-term hemodialysis patient. A 65-year-old Japanese female undergoing hemodialysis for 32 years was referred to our hospital with a fever of unknown origin (FUO) following cervical laminoplasty...
April 2018: Hemodialysis International
https://www.readbyqxmd.com/read/29314663/mefv-gene-testing-may-guide-physicians-for-early-diagnosis-of-familial-mediterranean-fever
#9
Mehmet E Tezcan, Mehmet Avci, Ridvan Mercan, Mehmet Aliustaoglu, Mehmet Sargin
INTRODUCTION: Familial Mediterranean fever (FMF) is characterized by recurrent attacks of polyserositis. Even though clinical assessment is accepted to be the most important factor in the diagnosis of FMF, some diagnostic procedures may help the physician. In this study, we aimed to compare the number of diagnostic procedures performed and number of physician referrals in early diagnosed and late diagnosed cases. Furthermore, we assessed which diagnostic approaches would affect the decision-making of physicians in the early diagnosed patients...
July 2018: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29151129/one-novel-and-two-uncommon-mefv-mutations-in-japanese-patients-with-familial-mediterranean-fever-a-clinicogenetic-study
#10
Dai Kishida, Masahide Yazaki, Akinori Nakamura, Fumio Nomura, Takeshi Kondo, Takanori Uehara, Masatomi Ikusaka, Akira Ohya, Norihiko Watanabe, Ryuta Endo, Satoshi Kawaai, Yasuhiro Shimojima, Yoshiki Sekijima
Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in the MEFV gene and characterized by recurrent episodes of fever and polyserositis. To date, over 317 MEFV mutations have been reported, only nine of which account for almost all Japanese patients with FMF. Therefore, the prevalence of rare MEFV variants and their clinical characteristics remains unclear. This study identified MEFV mutations previously unreported in the Japanese population and described their clinical features...
January 2018: Rheumatology International
https://www.readbyqxmd.com/read/29138905/fatigue-in-familial-mediterranean-fever-and-its-relations-with-other-clinical-parameters
#11
Mehmet Tuncay Duruoz, Cagri Unal, Duygu Karali Bingul, Firat Ulutatar
Fatigue is a common problem in patients with rheumatic disease. It may cause disability and poor quality of life. The aim of this study is to investigate fatigue in FMF patients as a disabling symptom and its associations with clinical and demographic variables. FMF patients were recruited into the study according to FMF Tel Hashomer criteria. Control group is composed of healthy individuals. Demographic and clinical features of the patients including PRAS scores were noted. Visual analogue score of pain (VAS-pain) and VAS-fatigue were used as clinical parameters...
January 2018: Rheumatology International
https://www.readbyqxmd.com/read/28943464/the-spectrum-of-familial-mediterranean-fever-gene-mefv-mutations-and-genotypes-in-iran-and-report-of-a-novel-missense-variant-r204h
#12
Nader Ebadi, Abbas Shakoori, Masoumeh Razipour, Arash Salmaninejad, Razieh Zarifian Yeganeh, Saman Mehrabi, Seyed Reza Raeeskarami, Malihea Khaleghian, Hamidreza Azhideh
BACKGROUND: Familial Mediterranean Fever (FMF) is an autosomal recessive disorder, characterized by recurrent and self-limited episodes of fever, abdominal pain, synovitis and pleuritis. FMF as the most common inherited monogenic autoinflammatory disease mainly affects ethnic groups of the Mediterranean basin, Arab, Jewish, Turkish, Armenian North Africans and Arabic descent. MATERIALS AND METHODS: In the present study, we selected 390 unrelated FMF patients according to the Tel-Hashomer criteria, and analyzed all patients for 12 most common mutations of MEFV gene by reverse hybridization assay (FMF strip assay)...
December 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28752409/-il-1-blockade-with-anakinra-during-pregnancy-retrospective-analysis-of-efficacy-and-safety-in-female-patients-with-familial-mediterranean-fever
#13
N Venhoff, R E Voll, C Glaser, J Thiel
OBJECTIVE: To retrospectively assess and analyze the clinical efficacy and safety of off-label interleukin-1 (IL-1) blockade with anakinra during pregnancy of patients with familial Mediterranean fever (FMF). METHODS: Retrospective analysis of clinical and laboratory parameters making use of an electronic database system. Detailed descriptions of the genotype and phenotype of FMF are given and the course of the pregnancy and fetal development are reported. RESULTS: The data of three patients and a total of four pregnancies under treatedment with anakinra were analyzed...
March 2018: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28678379/a-novel-cluster-of-patients-with-familial-mediterranean-fever-fmf-in-southern-italy
#14
Leonilde Bonfrate, Giuseppe Scaccianoce, Giuseppe Palasciano, Eldad Ben-Chetrit, Piero Portincasa
BACKGROUND: Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder characterised by recurrent attacks of fever and serositis (peritonitis, pleuritic or synovitis) affecting mainly populations of Mediterranean origin. AIM: To describe a relatively new cluster of FMF subjects from Apulia and Basilicata regions (southern Italy). PATIENTS AND METHODS: Subjects were screened for FMF using the Tel-Hashomer criteria and genetic analysis...
September 2017: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28539550/a-retrospective-analysis-of-7-cases-of-familial-mediterranean-fever
#15
REVIEW
Chie Ogita, Kiyoshi Matsui, Dai Kisida, Masahide Yazaki, Akinori Nakamura, Satosi Kaku, Hidehiko Makino, Rei Tadokoro, Kouta Azuma, Kazuyuki Tsuboi, Mei Tani, Masao Tamura, Takahiro Yoshikawa, Mai Morimoto, Aki Nishioka, Masahiro Sekiguchi, Naoto Azuma, Masayasu Kitano, Shinichiro Tsunoda, Hideaki Sawai, Hajime Sano
BACKGROUND: Familial mediterranean fever (FMF) is a single inherited autoinflammatory disease characterized by periodic fever with relatively short duration of 1 to 3 days and sterile serositis. Although the prevalence rate is highest in the Mediterranean coastal area, a large number of cases have been reported recently by genetic analysis by identification of MEFV (Mediterranean fever) which is responsible gene in Japan too. In outpatient department of rheumatology, diagnosis and treatment of FMF is performed in cases where fever and abdominal pain attack are repeated for a short period of time...
2017: Nihon Rinshō Men'eki Gakkai Kaishi, Japanese Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28425232/effect-of-familial-mediterranean-fever-on-sexual-and-reproductive-health-in-women
#16
Görkem Karakaş Uğurlu, Mustafa Uğurlu, Şükran Erten, Serdar Süleyman Can, Semra Ulusoy Kaymak, Ali Çayköylü
BACKGROUND/AIM: The aim of this study was to investigate the relationship between familial Mediterranean fever and female sexual dysfunction and premenstrual syndrome. MATERIALS AND METHODS: This study included 36 patients with familial Mediterranean fever and 33 healthy volunteers. Familial Mediterranean fever was diagnosed according to the Tel Hashomer criteria and familial Mediterranean fever mutations were identified in all of the patients. The patients and healthy volunteers were compared in terms of anxiety, depression, sexual dysfunction, and premenstrual syndrome, and a model was created that describes the relationships among these variables...
April 18, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28302131/a-survey-of-resistance-to-colchicine-treatment-for-french-patients-with-familial-mediterranean-fever
#17
REVIEW
Alice Corsia, Sophie Georgin-Lavialle, Véronique Hentgen, Eric Hachulla, Gilles Grateau, Albert Faye, Pierre Quartier, Linda Rossi-Semerano, Isabelle Koné-Paut
BACKGROUND: Colchicine is the standard treatment for familial Mediterranean fever (FMF), preventing attacks and inflammatory complications. True resistance is rare and yet not clearly defined. We evaluated physicians' definition of colchicine resistance and report how they manage it. PATIENTS AND METHODS: We recruited patients with a clinical diagnosis of FMF, one exon-10 Mediterranean fever (MEFV) gene mutation and considered resistant to colchicine, via networks of expert physicians...
March 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28074304/evaluation-of-endothelial-dysfunction-in-patients-with-familial-mediterranean-fever-the-relationship-between-the-levels-of-asymmetric-dimethylarginine-and-endocan-with-carotid-intima-media-thickness-and-endothelium-dependent-vasodilation
#18
Veysel Ozalper, Muammer Kara, Alpaslan Tanoglu, Ibrahim Cetındaglı, Coskun Ozturker, Yusuf Hancerlı, Serdar Hıra, Kemal Kara, Yavuz Beyazıt, Yusuf Yazgan
It has been suggested that there is an ongoing subclinical inflammation in familial Mediterranean fever (FMF) patients also in attack-free periods as well. Due to this ongoing inflammation, endothelial dysfunction (ED) may develop. Previously, ED has been suggested to increase the risk of the atherosclerosis and cardiovascular disease (CVD). Endocan is recognized as a specific molecule of the endothelium and has been shown to increase in some cases associated with inflammation. However, there is not sufficient data whether those with FMF could develop ED in the early period of life...
September 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/27488756/investigation-of-the-arterial-stiffness-and-associated-factors-in-patients-with-familial-mediterranean-fever
#19
Mustafa Çakar, Muharrem Akhan, Tolga Doğan, Gürhan Taşkın, Kadir Öztürk, Muhammet Çınar, Erol Arslan, Sedat Yılmaz
OBJECTIVE: Because of the ongoing and recurring inflammatory state in familial Mediterranean fever (FMF), patients may experience a high risk of cardiovascular events. Our aim was to investigate the arterial stiffness and associated factors in patients with FMF. METHODS: Sixty-nine consecutive FMF patients (including 11 females) and 35 controls (including 5 females) were enrolled in the study. The demographical, clinical, and laboratory data and genetic mutations of the patients were recorded...
February 2017: Anatolian Journal of Cardiology
https://www.readbyqxmd.com/read/27476063/is-the-il-6-174g-c-gene-polymorphism-related-to-the-disease-severity-score-in-turkish-children-with-familial-mediterranean-fever
#20
Samet Özer, Resul Yilmaz, Ergün Sonmezgoz, Şeyma Ünuvar, Ömer Ates
Familial Mediterranean fever (FMF) is an autosomal recessively inherited disease characterized by recurrent self-limited attacks of fever accompanied by aseptic inflammation of serosal spaces, joints and skin, peritonitis, pleuritis, and arthritis. Clinical features differ according to genetics variants. The aim of this study was to identify relationship between IL-6 -174G/C gene polymorphisms and clinical features, disease severity score (DSS) and proteinuria in children diagnosed with FMF. In this study, 99 children who were followed-up in Gaziosmanpasa University Medical Faculty Department of Pediatrics and diagnosed with Familial Mediterranean fever according to Tel-Hashomer criteria were included...
December 2016: Biochemical Genetics
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