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https://www.readbyqxmd.com/read/29909561/molecular-genetic-analysis-for-periodic-fever-syndromes-a-supplemental-role-for-the-diagnosis-of-adult-onset-still-s-disease
#1
Hongbin Li, Irina Abramova, Sandra Chesoni, Qingping Yao
Adult-onset Still's disease (AOSD) represents a systemic autoinflammatory disease (SAID), and its diagnostic criteria are clinical without genetic testing. Given shared manifestations between AOSD and hereditary SAIDs, molecular analysis may help differentiate these diseases. A PubMed literature search was conducted using key words "adult-onset Still's disease," "autoinflammatory disease," and "genetic mutation" between 1970 and February 2018. Articles on genetic mutations in the genes MEFV, TNFRSF1A, mevalonate kinase, or NOD2 for hereditary SAIDs in AOSD/systemic onset juvenile idiopathic arthritis (SJIA) patients were reviewed and analyzed...
June 17, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29876233/increased-frequency-of-mefv-genes-in-patients-with-epigastric-pain-syndrome
#2
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/29808155/a-case-of-familial-mediterranean-fever-with-extensive-lymphadenopathy-and-complex-heterozygous-genotype-presenting-in-the-fourth-decade
#3
Jawad Al-Khafaji, Fran Ganz-Lord, Venkata Rajesh Konjeti, Aaron D Viny
Familial Mediterranean fever (FMF) is an inherited disease caused by loss of function mutations in the MEFV gene encoding pyrin, a negative regulator of interleukin-1. The disease is characterized by recurrent fever and self-limited attacks of joint, chest, and abdominal pain but lymphadenopathy is an infrequent manifestation. While mesenteric lymphadenopathy has been described in several cases in the literature; hilar, paratracheal, axillary, pelvic, and retroperitoneal lymphadenopathy are extremely rare and have been reported separately in very few individuals...
2018: Case Reports in Rheumatology
https://www.readbyqxmd.com/read/29793924/gsdmd-is-critical-for-autoinflammatory-pathology-in-a-mouse-model-of-familial-mediterranean-fever
#4
Apurva Kanneganti, R K Subbarao Malireddi, Pedro H V Saavedra, Lieselotte Vande Walle, Hanne Van Gorp, Hiroto Kambara, Heather Tillman, Peter Vogel, Hongbo R Luo, Ramnik J Xavier, Hongbo Chi, Mohamed Lamkanfi
Pyroptosis is an inflammasome-induced lytic cell death mode, the physiological role of which in chronic inflammatory diseases is unknown. Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease worldwide, affecting an estimated 150,000 patients. The disease is caused by missense mutations in Mefv that activate the Pyrin inflammasome, but the pathophysiologic mechanisms driving autoinflammation in FMF are incompletely understood. Here, we show that Clostridium difficile infection of FMF knock-in macrophages that express a chimeric FMF-associated Mefv V726A Pyrin elicited pyroptosis and gasdermin D (GSDMD)-mediated interleukin (IL)-1β secretion...
May 23, 2018: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/29780113/familial-mediterranean-fever-mutations-in-a-patient-with-periodic-episodes-of-systemic-pain-deriving-from-cancer-bone-metastases
#5
Kouhei Yamashita, Kiyomi Mizugishi, Akifumi Takaori-Kondo
Familial Mediterranean fever (FMF), the most common autoinflammatory disorder, is characterized by recurrent febrile attacks and polyserositis. FMF is caused by mutations in MEFV, which encodes pyrin. In this report, we present an atypical FMF case with E148Q/L110P mutations in MEFV. The patient experienced periodic episodes of systemic pain originating from prostate cancer bone metastases. The pain attacks were prevented by continuous prophylactic therapy with colchicine. In this case, the presence of atypical FMF may have modulated the clinical manifestations of cancer bone metastases...
May 18, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29756710/mefv-gene-mutations-and-clinical-course-in-pediatric-patients-with-henoch-sch%C3%A3-nlein-purpura
#6
Emrah Can, Zubeyde Kılınç Yaprak, Şahin Hamilçıkan, Meltem Erol, Özlem Bostan Gayret Y Özgül Yiğit
OBJECTIVE: To determine the frequency of the MEFV gene mutations in pediatric patients diagnosed with HSP and to assess the effect of the MEFV gene mutations on their prognosis. Material and Methods. Ccross-sectional study; pediatric patients between 2-11 years diagnosed with HSP were included. These cases were investigated for 6 MEFV gene mutations (M694V, M680I, A744S, R202Q, K695R, E148Q). RESULTS: Eighty cases were included in the study of which 55% were male (n= 44)...
June 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29735907/the-frequency-of-mefv-gene-mutations-and-genotypes-in-sanliurfa-province-south-eastern-region-of-turkey-after-the-syrian-civil-war-by-using-next-generation-sequencing-and-report-of-a-novel-exon-4-mutation-i423t
#7
Evren Gumus
BACKGROUND: Familial Mediterranean Fever (FMF) is a genetic disorder characterized by recurrent episodes of fever and abdominal pain. Mutations in the Mediterranean fever (MEFV) gene are localized on the p arm of chromosome 16. Over 333 MEFV sequence variants have been identified so far in FMF patients, which occur mostly in the 2nd and 10th exons of the gene. METHODS: In this study, 296 unrelated patients with clinical suspicion of FMF, which were admitted during January⁻December 2017, were retrospectively reviewed to identify the frequency of MEFV gene mutations by using next generation sequencing...
May 7, 2018: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/29707173/analysis-of-the-mutations-in-exon-10-of-mefv-gene-in-patients-with-premature-coronary-heart-disease-in-west-azerbaijan-province-of-iran
#8
Morteza Bagheri, Kamal Khadem-Vatani, Mir Hossein Seyed Mohammad Zad, Isa Abdi Rad, Behzad Rahimi, Alireza Rostamzadeh, Mojtaba Godarzi, Shabnam Ashena
Introduction: Premature coronary heart disease (PCHD) affects public health and leads to death. PCHD has several genetic and environmental risk factors. The aim of this study was to analysis of the mutations in exon 10 of MEFV gene in patients with PCHD in West Azerbaijan province of Iran. Methods: Totally 41 PCHD patients who were admitted to the cardiology unit of Sayedoshohada hospital (Urmia, Iran) enrolled in the study. Selection of the patients was done based on the strict criteria, that is, who had a minimum of one angiographically documented coronary artery with the stenosis of 50%...
2018: Journal of Cardiovascular and Thoracic Research
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
#9
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
#10
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
#11
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
#12
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
#13
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...
June 2018: Proteins
https://www.readbyqxmd.com/read/29559814/a-rare-cause-of-fever-in-an-adult-a-case-of-familial-mediterranean-fever
#14
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
#15
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
#16
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
#17
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...
April 2018: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29505533/familial-mediterranean-fever-mimicking-crohn-disease-a-case-report
#18
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
#19
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
#20
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
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