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https://www.readbyqxmd.com/read/29218063/analysis-of-the-most-common-three-mefv-mutations-in-630-patients-with-familial-mediterranean-fever-in-iranian-azeri-turkish-population
#1
Morteza Bagheri, Isa Abdi Rad
Introduction: The aim of the present study was to determine the frequency of M694V, M680I and V726A mutations of the MEFV gene in 630 Azeri Turkish patients with family Mediterranean fever. Material and Methods: The MEFV gene mutations were detected using allele-specific oligonucleotide polymerase chain reaction. Outcomes: 630 cases with a mean age ± SD of 28.54±16.54 ranging from 2.5 to 76 years old including 268 (42.54%) males and 362 (57...
September 2017: Mædica
https://www.readbyqxmd.com/read/29203393/pyrin-inflammasome-regulates-tight-junction-integrity-to-restrict-colitis-and-tumorigenesis
#2
Deepika Sharma, Ankit Malik, Clifford S Guy, Rajendra Karki, Peter Vogel, Thirumala-Devi Kanneganti
BACKGROUND & AIMS: Inflammatory bowel diseases (IBD) increase risk for colorectal cancer. Mutations in the Mediterranean fever gene (MEFV or pyrin) are associated with hereditary autoinflammatory disease and severe IBD. Expression of MEFV, a sensor protein that the initiates assembly of the inflammasome complex, is increased in colon biopsies from patients with IBD. We investigated the role of pyrin in intestinal homeostasis in mice. METHODS: Mefv-/- mice and C57/BL6 mice (controls) were given azoxymethane followed by multiple rounds of dextran sodium sulfate (DSS) to induce colitis and tumorigenesis...
December 1, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29178647/comprehensive-analysis-of-mutations-in-the-mefv-gene-reveal-that-the-location-and-not-the-substitution-type-determines-symptom-severity-in-fmf
#3
Mike M Moradian, Davit Babikyan, Dion Banoian, Hasmik Hayrapetyan, Hakob Manvelyan, Nareh Avanesian, Tamara Sarkisian
BACKGROUND: Familial Mediterranean Fever (FMF) is an autoinflammatory disorder caused by mutations in the MEFV gene. These mutations appear in different populations with different frequencies and their caused symptom severities vary from mild to moderate to severe depending on the mutation type. METHODS: In this study, we analyzed the mutations that have been reported in the MEFV gene from symptomatic FMF patients and compared their frequencies in different populations from the 1000 Genome and the Exome databases, using statistical clustering...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29173686/investigation-of-mefv-gene-polymorphisms-g138g-and-a165a-in-adult-patients-with-familial-mediterranean-fever
#4
Mustafa Ferhat Öksuz, Mutlu Karkucak, Orhan Görukmez, Gökhan Ocakoğlu, Abdulmecit Yıldız, Mehmet Ture, Tahsin Yakut, Kamil Dilek
AIM: Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF). In our study, we aimed to determine the frequency of the MEFV mutations in our region and to investigate the impact of G138G (rs224224, c.414A>G) and A165A (rs224223, c.495C>A) gene polymorphisms on the clinical findings of the disease. METHODS: One hundred and sixteen patients diagnosed with FMF and 95 control subjects were included in this study...
November 2017: Revista Brasileira de Reumatologia
https://www.readbyqxmd.com/read/29159471/evidence-for-genetic-overlap-between-adult-onset-still-s-disease-and-hereditary-periodic-fever-syndromes
#5
R Sighart, J Rech, A Hueber, N Blank, S Löhr, A Reis, H Sticht, U Hüffmeier
OBJECTIVE: Adult onset Still's disease (AOSD) is a severe, autoimmune disease that can be challenging to treat with conventional therapeutics and biologicals in a considerable number of cases. Therefore, there is a high need to understand its pathogenesis better. As major clinical symptoms overlap between AOSD and hereditary periodic fever syndromes (HPFS), we analysed four known HPFS genes in AOSD. METHODS: We performed Sanger sequencing and quantitative analysis of all coding regions of MEFV, TNFRSF1A, MVK and NLRP3 in 40 AOSD patients...
November 20, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29151129/one-novel-and-two-uncommon-mefv-mutations-in-japanese-patients-with-familial-mediterranean-fever-a-clinicogenetic-study
#6
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...
November 18, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29148404/other-autoinflammatory-disease-genes-in-an-fmf-prevalent-population-a-homozygous-mvk-mutation-and-a-novel-heterozygous-tnfrsf1a-mutation-in-two-different-turkish-families-with-clinical-fmf
#7
İlker Karacan, Serdal Uğurlu, Aslıhan Tolun, Eda Tahir Turanlı, Huri Özdoğan
OBJECTIVES: No MEFV mutations are detected in approximately 10% of the patients with clinical FMF in populations where the disease is highly prevalent. Causative mutations were searched in other genes in two such families with "MEFV negative clinical FMF". METHODS: Father and daughter of family A had attacks of fever, abdominal pain and AA amyloidosis. The two sibs of family B complained of febrile episodes with abdominal pain and arthritis. The patients were clinically investigated...
October 27, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29148036/function-and-mechanism-of-the-pyrin-inflammasome
#8
REVIEW
Rosalie Heilig, Petr Broz
Pyrin, encoded by the MEFV gene, is an intracellular pattern recognition receptor that assembles inflammasome complexes in response to pathogen infections. Mutations in the MEFV gene have been linked to autoinflammatory diseases such as Familial Mediterranean Fever (FMF) or pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND). Recent insights have now revealed how pyrin is activated during infection, providing a molecular basis for the understanding of such disease-causing mutations in pyrin...
November 16, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/29101676/long-term-follow-up-of-paediatric-mefv-carriers
#9
Balahan Makay, Nesrin Gülez
Although familial Mediterranean fever (FMF) is inherited autosomal recessively, some heterozygotes may express disease phenotype and require therapy. To date, there is no study in the literature about how to follow-up Mediterranean fever (MEFV) heterozygotes who do not fulfil FMF criteria in the paediatric age group. This study aims to share a single-centre experience of the long-term clinical and laboratory follow-up of paediatric MEFV carriers. We reviewed the charts of 69 children who were heterozygous for MEFV variants...
November 3, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/29051974/cardiac-disease-in-familial-mediterranean-fever
#10
REVIEW
Eren Erken, Ertugrul Erken
Familial Mediterranean fever (FMF) is an autoinflammatory disease manifested by inflammatory attacks of peritonitis, pleuritis, pericarditis accompanied by fever and arthritis. Mutations of MEFV gene results in pyrin dysfunction, which causes uncontrolled interleukin-1 beta production and triggers the inflammatory attacks. Inflammation persists even during attack-free periods in one-third of the FMF patients. Findings of elevated proinflammatory cytokine patterns during remission as well as inflammatory attacks indicate the continuous subclinical disease activity and inflammation...
October 20, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29047407/a-web-based-collection-of-genotype-phenotype-associations-in-hereditary-recurrent-fevers-from-the-eurofever-registry
#11
Riccardo Papa, Matteo Doglio, Helen J Lachmann, Seza Ozen, Joost Frenkel, Anna Simon, Bénédicte Neven, Jasmin Kuemmerle-Deschner, Huri Ozgodan, Roberta Caorsi, Silvia Federici, Martina Finetti, Maria Trachana, Jurgen Brunner, Liliana Bezrodnik, Mari Carmen Pinedo Gago, Maria Cristina Maggio, Elena Tsitsami, Wafaa Al Suwairi, Graciela Espada, Anna Shcherbina, Guzide Aksu, Nicolino Ruperto, Alberto Martini, Isabella Ceccherini, Marco Gattorno
BACKGROUND: Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database ( http://fmf.igh.cnrs.fr/ISSAID/infevers ) is a large international registry collecting variants reported in these genes. However, no genotype-phenotype associations are provided, but only the clinical phenotype of the first patient(s) described for each mutation...
October 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29042872/accuracy-of-maximal-expiratory-flow-volume-curve-curvilinearity-and-fractional-exhaled-nitric-oxide-for-detection-of-children-with-atopic-asthma
#12
Sang Hoo Park, Min Ji Im, Sang-Yong Eom, Youn-Soo Hahn
PURPOSE: Airway pathology in children with atopic asthma can be reflected by the concave shape of the maximal expiratory flow-volume (MEFV) curve and high fractional exhaled nitric oxide (FeNO) values. We evaluated the capacity of the curvilinearity of the MEFV curve, FeNO, and their combination to distinguish subjects with atopic asthma from healthy individuals. METHODS: FeNO and angle β, which characterizes the general configuration of the MEFV curve, were determined in 119 steroid-naïve individuals with atopic asthma aged 8 to 16 years, and in 92 age-matched healthy controls...
September 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29040788/familial-mediterranean-fever-mutations-are-hypermorphic-mutations-that-specifically-decrease-the-activation-threshold-of-the-pyrin-inflammasome
#13
Yvan Jamilloux, Lucie Lefeuvre, Flora Magnotti, Amandine Martin, Sarah Benezech, Omran Allatif, Mathilde Penel-Page, Véronique Hentgen, Pascal Sève, Mathieu Gerfaud-Valentin, Agnès Duquesne, Marine Desjonquères, Audrey Laurent, Vanessa Rémy-Piccolo, Rolando Cimaz, Luca Cantarini, Emilie Bourdonnay, Thierry Walzer, Bénédicte F Py, Alexandre Belot, Thomas Henry
Objectives: FMF is the most frequent autoinflammatory disease and is associated in most patients with bi-allelic MEFV mutations. MEFV encodes Pyrin, an inflammasome sensor activated following RhoGTPase inhibition. The functional consequences of MEFV mutations on the ability of Pyrin variants to act as inflammasome sensors are largely unknown. The aim of this study was to assess whether MEFV mutations affect the ability of Pyrin to detect RhoGTPase inhibition and other inflammasome stimuli...
October 12, 2017: Rheumatology
https://www.readbyqxmd.com/read/29031862/pfapa-syndrome-in-a-population-with-endemic-familial-mediterranean-fever
#14
Esra Pehlivan, Amra Adrovic, Sezgin Sahin, Kenan Barut, Ovgu Kul Cınar, Ozgur Kasapcopur
We reviewed the medical records of patients with periodic fever, aphthosis, pharyngitis, and adenitis (PFAPA) to investigate the clinical course, treatment response, and association with MEFV gene mutation. Familial Mediterranean fever should be considered in patients with PFAPA who do not respond to adenotonsillectomy.
October 11, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29017770/longitudinal-analysis-of-serum-interleukin-18-in-patients-with-familial-mediterranean-fever-carrying-mefv-mutations-in-exon-10
#15
Taizo Wada, Tomoko Toma, Hanae Miyazawa, Eiko Koizumi, Tetsujiro Shirahashi, Yusuke Matsuda, Akihiro Yachie
BACKGROUND: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in the MEFV gene. Mutations in exon 10 are associated with typical FMF phenotypes, and patients with exon 10 mutations have higher serum levels of interleukin (IL)-18 both during attacks and afebrile phases, compared to those without exon 10 mutations. However, longitudinal changes of serum IL-18 in FMF have not been fully characterized. METHODS: We serially evaluated serum levels of pro-inflammatory cytokines, including IL-18, in 12 patients with FMF carrying exon 10 mutations, all of whom showed typical FMF attacks...
October 7, 2017: Cytokine
https://www.readbyqxmd.com/read/28982344/ankylosing-spondylitis-among-familial-mediterranean-fever-patients
#16
Mira Merashli, Mohammad Hassan A. Noureldine, Yehia Tfayli, Ali Jawad, Imad Uthman
Background: Familial Mediterranean Fever(FMF) is one of the most common hereditary auto-inflammatory diseases especially among Arabs, Armenians, Jews, and Turks characterized by recurrent attacks of fever, abdominal pain and arthritis.Whether the prevalence of ankylosing spondylitis (AS) is increasedin FMF patients is a matter of debate.This review will summarize all the literature datarelevant to this topic. Methods: We searched all the articles throughPubMedand Embase databasesfrom 1963 untilnow addressing the relationship betweenASand FMF patients...
October 3, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/28980897/comparison-of-patients-with-familial-mediterranean-fever-accompanied-with-sacroiliitis-and-patients-with-juvenile-spondyloarthropathy
#17
Hafize Emine Sönmez, Ezgi Deniz Batu, Selcan Demir, Yelda Bilginer, Seza Özen
OBJECTIVES: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease manifesting with self-limited recurrent febrile attacks and polyserositis. Acute recurrent monoarthritis is the most common form of musculoskeletal involvement in FMF; however, up to 5% of FMF patients may develop chronic joint diseases including sacroiliitis. It is difficult to distinguish whether sacroiliitis is a musculoskeletal finding of FMF or whether this is the coexistence of two diseases, FMF and SpA...
September 26, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28971640/carriage-of-mediterranean-fever-mefv-mutations-in-patients-with-postpericardiotomy-syndrome-pps
#18
Ido-David Dechtman, Chagai Grossman, Yael Shinar, Rinat Cohen, Eyal Nachum, Ehud Raanani, Avi Livneh, Ilan Ben-Zvi
BACKGROUND: Postpericardiotomy syndrome (PPS) is characterized by pleuro-pericardial inflammation, which occurs in patients undergoing surgical procedures involving the pleura, pericardium, or both. The syndrome is considered to be immune mediated. However, its pathogenesis is not fully understood. It has previously been demonstrated that the Mediterranean Fever (MEFV) gene, which is associated with familial Mediterranean fever (FMF), has a role in the activation and expression of several inflammatory diseases...
September 2017: Israel Medical Association Journal: IMAJ
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
#19
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)...
September 21, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28927886/tnfrsf1a-and-mefv-mutations-in-childhood-onset-multiple-sclerosis
#20
Astrid Blaschek, Rüdiger V Kries, Peter Lohse, Kristina Huss, Katharina Vill, Bernd H Belohradsky, Florian Heinen, Wolfgang Müller-Felber, Tania Kümpfel
To investigate frequency and phenotype of TNFRSF1A and MEFV mutations in childhood-onset multiple sclerosis (MS). Twenty-nine clinically well characterized patients were investigated for mutations in exons 2, 3, 4, and 6 of the TNFRSF1A gene and in exons 2, 3, 9, 10 of the MEFV gene. Standardized morbidity ratio (SMR) was used to assess whether the number of observed mutations was higher than expected. Eleven out of 29 patients tested positive for mutations. Heterozygosity for the TNFRSF1A R92Q (rs4149584) variant was found in 6/11 mutation-positive patients...
September 1, 2017: European Journal of Paediatric Neurology: EJPN
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