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https://www.readbyqxmd.com/read/29456932/neither-hereditary-periodic-fever-nor-periodic-fever-aphthae-pharingitis-adenitis-undifferentiated-periodic-fever-in-a-tertiary-pediatric-center
#1
Silvia De Pauli, Sara Lega, Serena Pastore, Domenico Leonardo Grasso, Anna Monica Rosaria Bianco, Giovanni Maria Severini, Alberto Tommasini, Andrea Taddio
AIM: To describe the frequency and clinical characteristics of patients with undifferentiated periodic fever (UPF) and to investigate whether a clinical classification of UPF based on the PRINTO-Eurofever score can help predicting the response to treatment and the outcome at follow-up. METHODS: Clinical and therapeutic information of patients with recurrent fever who presented at a single pediatric rheumatology center from January 2006 through April 2016 were retrospectively collected...
February 8, 2018: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/29452306/boundaries-between-familial-mediterranean-fever-and-juvenile-spondyloarthritis-analysis-of-three-french-retrospective-cohorts
#2
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. Objectives of this work were 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/29393966/lack-of-clear-and-univocal-genotype-phenotype-correlation-in-familial-mediterranean-fever-patients-a-systematic-review
#3
REVIEW
Sebastiano Gangemi, Sara Manti, Vincenzo Procopio, Marco Casciaro, Eleonora Di Salvo, Mariaconcetta Cutrupi, Gloria Ganci, Carmelo Salpietro, Roberto Chimenz, Caterina Cuppari
Familial Mediterranean fever (FMF) is the most common autosomal recessive autoinflammatory disease. To date, following the isolation of more than 280 MEFV sequence variants, the genotype-phenotype correlation in FMF patients has been intensively investigated, however, an univocal and clear consensus has not been yet reached. Thus, the aim of this systematic review was to analyse the available literature findings in order to provide to scientific community an indirect estimation of the impact of genetic factors on the phenotypic variability of FMF...
February 2, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29363386/increased-psoriasis-frequency-in-patients-with-familial-mediterranean-fever
#4
Abdulsamet Erden, Ezgi Deniz Batu, Emrah Seyhoğlu, Alper Sari, Hafize Emine Sönmez, Berkan Armagan, Selcan Demir, Emre Bilgin, Levent Kilic, Omer Karadag, Ali Akdogan, Yelda Bilginer, Ihsan Ertenli, Sedat Kiraz, Sule Apras Bilgen, Umut Kalyoncu
OBJECTIVE: Familial Mediterranean fever (FMF) is a periodic fever syndrome caused by MEFV mutations. FMF may be associated with psoriasis in some cases. The prevalence of psoriasis in the normal Turkish population is 0.42%. We aimed to investigate the prevalence of psoriasis among FMF patients and their relatives. METHODS: FMF patients followed at Hacettepe University Adult and Pediatric Rheumatology Departments between January and August 2016 were included. FMF patients/their relatives were accepted to have psoriasis if the diagnosis was made by a dermatologist...
January 24, 2018: Upsala Journal of Medical Sciences
https://www.readbyqxmd.com/read/29326099/interleukin-18-diagnostically-distinguishes-and-pathogenically-promotes-human-and-murine-macrophage-activation-syndrome
#5
Eric S Weiss, Charlotte Girard-Guyonvarc'h, Dirk Holzinger, Adriana A de Jesus, Zeshan Tariq, Jennifer Picarsic, Eduardo J Schiffrin, Dirk Foell, Alexei A Grom, Sandra Ammann, Stephan Ehl, Tomoaki Hoshino, Raphaela Goldbach-Mansky, Cem Gabay, Scott W Canna
Hemophagocytic Lymphohistiocytosis (HLH) and Macrophage Activation Syndrome (MAS) are life-threatening hyperferritinemic systemic inflammatory disorders. Though profound cytotoxic impairment causes familial HLH (fHLH), the mechanisms driving non-fHLH and MAS are largely unknown. MAS occurs in patients with suspected rheumatic disease, but the mechanistic basis for its distinction is unclear. Recently, a syndrome of recurrent MAS with infantile enterocolitis caused by NLRC4 inflammasome hyperactivity highlighted the potential importance of Interleukin (IL)-18...
January 11, 2018: Blood
https://www.readbyqxmd.com/read/29314663/mefv-gene-testing-may-guide-physicians-for-early-diagnosis-of-familial-mediterranean-fever
#6
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...
January 5, 2018: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29260407/does-thiol-disulphide-balance-show-oxidative-stress-in-different-mefv-mutations
#7
Burhan Balta, Murat Erdogan, Murat Alisik, Aslihan Kiraz, Tayfun Akalin, Funda Bastug, Ozcan Erel
Many studies have shown that oxidative stress levels increase in patients with Familial Mediterranean Fever (FMF). Thiols are a class of compounds that include a sulfhydryl group (-SH) and can react with free oxygen radicals to protect tissues. We aimed to investigate thiol-disulphide homeostatic status in FMF patients and examined the effect of different mutations in the MEFV gene on the thiol-disulphide balance. We investigated thiol-disulphide parameters in patients with FMF and healthy controls. To determine the differential effect of MEFV gene mutations on thiol-disulphide balance, subjects were divided into five groups based on homozygous or compound heterozygous exon 10 and nonexon 10 mutations...
December 19, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29247997/the-nlrc4-inflammasome
#8
REVIEW
Joseph A Duncan, Scott W Canna
15 years ago, the fundamental biology of an inflammatory signaling complex eventually dubbed "the inflammasome" began to unravel in chronologic parallel with the discovery that many inflammatory diseases were associated with its hyperactivity. Though the genetic origins of Familial Mediterranean Fever (FMF, caused my mutations in MEFV) were discovered first, it would take nearly two decades before the mechanistic connections to a PYRIN inflammasome were made. In the interim, the intensive study of the NLRP3 inflammasome, and the diseases associated with its hyperactivation, have largely dictated the paradigm of inflammasome composition and function...
January 2018: Immunological Reviews
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
İlker Karacan, Serdal Uğurlu, Aslıhan Tolun, Eda Tahir Turanlı, Huri Ozdogan
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...
November 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29148036/function-and-mechanism-of-the-pyrin-inflammasome
#16
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
#17
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
#18
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...
January 2018: Rheumatology International
https://www.readbyqxmd.com/read/29047407/a-web-based-collection-of-genotype-phenotype-associations-in-hereditary-recurrent-fevers-from-the-eurofever-registry
#19
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
#20
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
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