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https://www.readbyqxmd.com/read/29600428/cbl-mutation-and-mefv-single-nucleotide-variant-are-important-genetic-predictors-of-tumor-reduction-in-glucocorticoid-treated-patients-with-chronic-myelomonocytic-leukemia
#1
Junichi Watanabe, Ken Sato, Yukiko Osawa, Toshikatsu Horiuchi, Shoichiro Kato, Reina Hikota-Saga, Takaaki Maekawa, Takeshi Yamamura, Ayako Kobayashi, Shinichi Kobayashi, Fumihiko Kimura
Glucocorticoid (GC) therapy occasionally relieves tumor-related fever and promotes tumor reduction in patients with chronic myelomonocytic leukemia (CMML). A mutation analysis of 24 patients with CMML revealed the relationship of GC effectiveness, defined as a monocyte reduction of > 50% within 3 days of methylprednisolone administration, with the MEFV single-nucleotide variant (SNV) and CBL mutation. Lipopolysaccharide-stimulated monocytes harboring MEFV E148Q produced greater amounts of IL-1β and TNF-α than did wild-type monocytes; this was effectively suppressed by GC...
March 29, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29599418/new-workflow-for-classification-of-genetic-variants-pathogenicity-applied-to-hereditary-recurrent-fevers-by-the-international-study-group-for-systemic-autoinflammatory-diseases-insaid
#2
Marielle E Van Gijn, Isabella Ceccherini, Yael Shinar, Ellen C Carbo, Mariska Slofstra, Juan I Arostegui, Guillaume Sarrabay, Dorota Rowczenio, Ebun Omoyımnı, Banu Balci-Peynircioglu, Hal M Hoffman, Florian Milhavet, Morris A Swertz, Isabelle Touitou
BACKGROUND: Hereditary recurrent fevers (HRFs) are rare inflammatory diseases sharing similar clinical symptoms and effectively treated with anti-inflammatory biological drugs. Accurate diagnosis of HRF relies heavily on genetic testing. OBJECTIVES: This study aimed to obtain an experts' consensus on the clinical significance of gene variants in four well-known HRF genes: MEFV , TNFRSF1A , NLRP3 and MVK . METHODS: We configured a MOLGENIS web platform to share and analyse pathogenicity classifications of the variants and to manage a consensus-based classification process...
March 29, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29595881/the-influence-of-thoracic-gas-compression-and-airflow-density-dependence-on-the-assessment-of-pulmonary-function-at-high-altitude
#3
Troy J Cross, Courtney Wheatley, Glenn M Stewart, Kirsten Coffman, Alex Carlson, Jan Stepanek, Norman R Morris, Bruce D Johnson
The purpose of this report was to illustrate how thoracic gas compression (TGC) artifact, and differences in air density, may together conflate the interpretation of changes in the forced expiratory flows (FEFs) at high altitude (>2400 m). Twenty-four adults (10 women; 44 ± 15 year) with normal baseline pulmonary function (>90% predicted) completed a 12-day sojourn at Mt. Kilimanjaro. Participants were assessed at Moshi (Day 0, 853 m) and at Barafu Camp (Day 9, 4837 m). Typical maximal expiratory flow-volume (MEFV) curves were obtained in accordance with ATS/ERS guidelines, and were either: (1) left unadjusted; (2) adjusted for TGC by constructing a "maximal perimeter" MEFV curve; or (3) adjusted for both TGC and differences in air density between altitudes...
March 2018: Physiological Reports
https://www.readbyqxmd.com/read/29579081/genetics-in-tnf-tnfr-pathway-a-complex-network-causing-spondyloarthritis-and-conditioning-response-to-anti-tnf%C3%AE-therapy
#4
Ada Aita, Daniela Basso, Roberta Ramonda, Stefania Moz, Mariagrazia Lorenzin, Filippo Navaglia, Carlo-Federico Zambon, Andrea Padoan, Mario Plebani, Leonardo Punzi
OBJECTIVES: We investigated whether polymorphisms (SNPs) in the promoter region of TNFA, or in the autoinflammatory TNFRSF1A and MEFV genes, concur with HLA-B27 in enhancing the risk of Spondyloarthritis (SpA) and/or in predicting the response to anti-TNFα treatment. METHODS: 373 controls and 137 SpA (82 with Psoriatic Arthritis-PsA and 55 with Ankylosing Spondylitis- AS; 98/137 under TNFα inhibitor therapy) from the Veneto Region (Italy) were studied. TNFA polymorphisms (-1031T>C;-857C>T;-376G>A;-308G>A;-238G>A) and HLA-B27 were assayed by RT-PCR...
2018: PloS One
https://www.readbyqxmd.com/read/29575132/complex-formation-dynamics-of-native-and-mutated-pyrin-s-b30-2-domain-with-caspase-1
#5
Grigor Arakelov, Vahram Arakelov, Karen Nazaryan
Pyrin protein is the product of the MEFV gene, mutations in which cause manifestation of Familial Mediterranean Fever (FMF). Functions of pyrin are not completely clear. The secondary structure of the pyrin is represented with four domains and two motifs. Mutations p.M680I, p.M694V, p.M694I, p.K695R, p.V726A and p.A744S, which are located in the B30.2 domain of pyrin protein, are responsible for manifestation of the most common and severe forms of FMF. All the domains and the motifs of pyrin, are directly or indirectly, involved in the protein-protein interaction with proteins of apoptosis and regulate the cascade of inflammatory reactions, which is impaired due to pyrin mutations...
March 25, 2018: Proteins
https://www.readbyqxmd.com/read/29559814/a-rare-cause-of-fever-in-an-adult-a-case-of-familial-mediterranean-fever
#6
Ilknur Erdem, Fatih Saritas, Ritvan Karaali, Enes Ardic, Gaye Kubra Emeksiz, Sonat Pinar Kara, R Merve Yaniker, Oguzhan Bol
Background: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent fever attacks and serositis. Nonspecific manifestations of the FMF can mimic many common acquired disorders such as infections and acute abdomen. This can delay recognition for many years and lead to comprehensive assessments and even unnecessary surgeries. Untreated FMF may lead to serious complications such as end-stage renal disease and malabsorption due to amyloid deposits in the kidneys and the digestive system...
2018: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/29543225/clinical-and-genetic-heterogeneity-in-a-large-cohort-of-armenian-patients-with-late-onset-familial-mediterranean-fever
#7
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/29526930/five-cases-of-familial-mediterranean-fever-in-japan-the-relationship-with-mefv-mutations
#8
Kazuki Kimura, Masafumi Mizooka, Kiyoshi Migita, Ryoko Ishida, Masatoshi Matsumoto, Satoshi Yamasaki, Nobusuke Kishikawa, Akihiro Kawahara, Yuka Kikuchi, Yuichiro Otani, Tomoki Kobayashi, Daisuke Miyamori, Takuya Ikuta, Hiroshi Nakamura, Kenichi Yokobayashi, Shuichi Iwamoto, Keishi Kanno, Hiromasa Ohira, Susumu Tazuma
Familial Mediterranean fever (FMF) is the most common genetic autoinflammatory disease, but it has been considered a rare disease in Japan. We herein describe five patients with FMF who were diagnosed both clinically and genetically at a single Japanese institute. A genetic investigation of MEFV detected heterozygosity for the compound mutations L110P/E148Q (n=2) and L110P/148Q/P369S/R406Q (n=1), and heterozygosity for M694I (n=1) and S503C (n=1). Colchicine prevented febrile attacks and accompanying symptoms in four patients...
March 9, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29526329/-familial-mediterranean-fever
#9
S Georgin-Lavialle, V Hentgen, K Stankovic Stojanovic, C Bachmeyer, F Rodrigues, L Savey, S Abbara, P-L Conan, T Fraisse, M Delplanque, A Rouet, N Sbeih, I Koné-Paut, G Grateau
Familial Mediterranean Fever (FMF) is the most frequent monogenic auto-inflammatory disease. FMF is an autosomal recessive disease, which affects populations from Mediterranean origin and is associated with MEFV gene mutations encoding for the protein pyrin. Pyrin activation enhances the secretion of interleukin 1 by myelo-monocytic cells. Main features of the disease are acute attacks of serositis mainly located on the abdomen, less frequently on chest and joints, accompanied by fever and biological inflammatory markers elevation...
March 8, 2018: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29505533/familial-mediterranean-fever-mimicking-crohn-disease-a-case-report
#10
Kensuke Asakura, Shunichi Yanai, Shotaro Nakamura, Keisuke Kawaski, Makoto Eizuka, Kazuyuki Ishida, Masaki Endo, Tamotsu Sugai, Kiyoshi Migita, Takayuki Matsumoto
RATIONALE: Familial Mediterranean fever (FMF) is the most common form of autoinflammatory disease. We report a rare case of FMF with gastrointestinal lesions mimicking Crohn disease. PATIENT CONCERNS: A 21-year-old Japanese man was referred to our institution, complaining of refractory diarrhea and weight loss of 14 kg during the past two years. He had presented with recurrent fever, abdominal pain, anal fistula and stomatitis. His father and one of his brothers had ulcerative colitis...
January 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29490685/a-novel-single-variant-in-the-mefv-gene-causing-mediterranean-fever-and-beh%C3%A3-et-s-disease-a-case-report
#11
Maria Zerkaoui, Fatima Zahra Laarabi, Yousra Ajhoun, Bouchra Chkirate, Abdelaziz Sefiani
BACKGROUND: Familial Mediterranean fever is an autoinflammatory disease of unknown etiology, characterized clinically by recurrent attacks of sudden-onset fever with arthralgia and/or thoracoabdominal pain and pathogenetically by autosomal recessive inheritance due to a mutation in the MEFV gene. Behçet's disease is an inflammatory disease characterized by recurrent oral and genital aphthous ulcerations, uveitis, and skin lesions. Preliminarily, our literature review suggested that patients with familial Mediterranean fever who also have Behçet's disease have only a single mutated familial Mediterranean fever gene...
March 1, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29456932/neither-hereditary-periodic-fever-nor-periodic-fever-aphthae-pharingitis-adenitis-undifferentiated-periodic-fever-in-a-tertiary-pediatric-center
#12
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
#13
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
#14
REVIEW
S Gangemi, S Manti, V Procopio, M Casciaro, E Di Salvo, M Cutrupi, G Ganci, C Salpietro, R Chimenz, C 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 analyze 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
#15
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...
March 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
#16
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. Although 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-18 (IL-18)...
March 29, 2018: Blood
https://www.readbyqxmd.com/read/29314663/mefv-gene-testing-may-guide-physicians-for-early-diagnosis-of-familial-mediterranean-fever
#17
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
#18
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...
January 2018: Rheumatology International
https://www.readbyqxmd.com/read/29247997/the-nlrc4-inflammasome
#19
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
#20
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
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