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https://www.readbyqxmd.com/read/27899005/angle-%C3%AE-of-greater-than-80%C3%A2-at-the-start-of-spirometry-may-identify-high-quality-flow-volume-curves
#1
Ningfang Lian, Li Li, Weiying Ren, Zhilong Jiang, Lei Zhu
BACKGROUND AND OBJECTIVE: The American Thoracic Society (ATS) and European Respiratory Society (ERS) emphasize a satisfactory start in maximal expiratory flow-volume (MEFV) curves and highlight subjective parameters: performance without hesitation and expiration with maximum force. We described a new parameter, angle β for characterization of the start to the MEFV curve. METHODS: Subjects completed the MEFV curve at least three times and at least two curves met ATS/ERS quality...
November 29, 2016: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/27860302/clinical-and-genetic-association-radiological-findings-and-response-to-biological-therapy-in-seven-children-from-qatar-with-non-bacterial-osteomyelitis
#2
Taha Moussa, Venkatraman Bhat, Vishwanatha Kini, Basil M Fathalla
AIM: We aim to report the clinical manifestations, genetic testing results, magnetic resonance imaging (MRI) findings and biologics used in the management of non-bacterial osteomyelitis in our center. METHODS: We conducted a retrospective review of medical records. A previously proposed classification was implemented as follows: chronic recurrent multifocal osteomyelitis (CRMO), chronic non-bacterial osteomyelitis (CNBO) and acute non-bacterial osteomyelitis. RESULTS: Four females and three males with a median age at presentation of 6 years (6 months-14 years) presented with arthralgia (7/7), back pain (4/7), arthritis (4/7) and bone pain (2/7)...
November 9, 2016: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/27796522/the-association-between-mefv-gene-polymorphisms-and-henoch-sch%C3%A3-nlein-purpura-and-additional-snp-snp-interactions-in-chinese-han-children
#3
Shunjun Xiong, Ying Xiong, Qian Huang, Jierong Wang, Xiaofang Zhang
The aim of this study was to investigate the association between single-nucleotide polymorphisms (SNP) within MEFV gene and Henoch-Schönlein purpura (HSP) risk, and the impact of SNP-SNP interaction on HSP risk in Chinese children. A total of 662 subjects with a mean age of 7.9 ± 2.4 years old were selected, including 320 HSP patients and 342 normal controls. Logistic regression was performed to investigate association between SNP and HSP risk, and generalized multifactor dimensionality reduction (GMDR) was used to analyze the SNP-SNP interaction...
October 31, 2016: Rheumatology International
https://www.readbyqxmd.com/read/27791953/familial-mediterranean-fever-gene-mutation-frequencies-in-a-sample-turkish-population
#4
Oguz Soylemezoglu, Yasar Kandur, Sevim Gonen, Ali Düzova, Zeynep Birsin Özçakar, Kibriya Fidan, Fatos Yalcinkaya
OBJECTIVES: Our knowledge about the frequencies of mutations in the Turkish population is based on the studies on the affected patients and hospital-based control groups. We aimed to determine the frequencies of MEFV gene mutations in a population-based field study in Turkey. METHODS: Turkish citizens aged between 5 and 65 years were included in the study. Cities from seven regions of Turkey were studied. Blood samples were obtained from individuals who gave permission for laboratory experiments, and they were analysed for 10 MEFV gene mutations...
September 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27791951/mefv-and-saa1-genotype-associations-with-clinical-features-of-familial-mediterranean-fever-and-amyloidosis-in-armenia
#5
Stepan Atoyan, Hasmik Hayrapetyan, Tamara Sarkisian, Eldad Ben-Chetrit
OBJECTIVES: Familial Mediterranean fever (FMF) is a hereditary periodic disease characterised by recurrent attacks of fever and serositis. The most devastating complication of FMF is amyloidosis (AA) affecting mainly the kidneys. Aim of the study is to search for correlations between the MEFV genotype and the SAA polymorphisms with the clinical manifestations of FMF and the occurrence of amyloidosis in a large cohort of Armenian patients. METHODS: Information about the MEFV mutations, SAA polymorphisms and FMF clinical features, were obtained for 1017 FMF patients, from the database of the Center of Medical Genetics in Yerevan...
September 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27733942/the-role-of-mefv-mutations-in-the-concurrent-disorders-observed-in-patients-with-familial-mediterranean-fever
#6
Sabri Güncan, N Şule Y Bilge, Döndü Üsküdar Cansu, Timuçin Kaşifoğlu, Cengiz Korkmaz
OBJECTIVE: This study aimed to investigate the frequency in which familial Mediterranean fever (FMF) coexists with other diseases and determine whether Mediterranean fever (MEFV) gene mutations are involved in such coexistence. MATERIAL AND METHODS: In total, 142 consecutive patients with FMF investigated for MEFV mutation were enrolled in this study [Female: 87; Male: 55, mean age 32±12 years (11-62)]. All the patients were questioned for the presence of concurrent disorders, and the medical records of these patients were revised retrospectively...
September 2016: European Journal of Rheumatology
https://www.readbyqxmd.com/read/27709445/childhood-polyarteritis-nodosa-diagnosis-with-non-invasive-imaging-techniques
#7
Z Birsin Özçakar, Suat Fitöz, Adalet Elçin Yıldız, Fatoş Yalçınkaya
There is limited number of publications about the use of non-invasive imaging modalities in the diagnosis of childhood polyarteritis nodosa (cPAN). The aim of this study was to present the clinical and imaging findings of the patients with cPAN who were diagnosed with non-invasive imaging techniques. Files of patients who had been diagnosed as cPAN in our department from 2005 to 2015 were reviewed, retrospectively. Demographic, clinical, laboratory, and imaging findings of the patients were evaluated. Nine patients (8M, 1F; age at disease onset: 12...
October 5, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/27681353/xiap-deficiency-and-mefv-variants-resulting-in-an-autoinflammatory-lymphoproliferative-syndrome
#8
Mette Christiansen, Sandra Ammann, Carsten Speckmann, Trine Hyrup Mogensen
A 16-year-old boy of Caucasian ethnicity was evaluated for recurrent febrile episodes occurring during most of his life without establishment of any microbial aetiology. During febrile episodes he developed extensive splenomegaly, lymphadenopathy, anaemia, severe abdominal pain and general malaise. Lymph node biopsies demonstrated inflammation and sinus histiocytosis but no malignancy or granuloma. The patient underwent seroconversion for Epstein-Barr virus (EBV) infection during the hospitalisation. Genetic testing identified a hemizygous frameshift mutation in the X linked inhibitor of apoptosis (XIAP)-gene as well as variants in the MEFV gene indicating Familial Mediterranean Fever (FMF)...
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27679472/discontinuing-colchicine-in-symptomatic-carriers-for-mefv-mediterranean-fever-variants
#9
Hafize Emine Sönmez, Ezgi Deniz Batu, Yelda Bilginer, Seza Özen
Familial Mediterranean fever (FMF) is inherited autosomal recessively; however, heterozygotes may express FMF phenotype. We aimed to define the characteristics of FMF patients heterozygous for MEFV (MEditerranean FeVer) mutations in whom colchicine was stopped after a period of treatment, with close follow-up. We reviewed the charts of 182 children who were heterozygous for MEFV variants. We excluded the patients (n = 34) heterozygous for MEFV variants of unknown significance and patients with typical periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome (n = 2)...
September 27, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/27659338/prevalence-of-common-mefv-mutations-and-carrier-frequencies-in-a-large-cohort-of-iranian-populations
#10
Maryam Beheshtian, Nasim Izadi, Gernot Kriegshauser, Kimia Kahrizi, Elham Parsi Mehr, Maryam Rostami, Masoumeh Hosseini, Maryam Azad, Mona Montajabiniat, Ariana Kariminejad, Stefan Nemeth, Christian Oberkanins, Hossein Najmabadi
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder caused by mutations in the MEFV gene. The disease is especially common among Armenian, Turkish, Jewish and Middle East Arab populations. To identify the frequency and the spectrum of common MEFV mutations in different Iranian populations, we investigated a cohort of 208 unselected asymptomatic individuals and 743 FMF patients. Nine hundred and fifty-one samples were analysed for the presence of 12 MEFV mutations by PCR and reverse-hybridization (FMF StripAssay, ViennaLab, Vienna, Austria)...
September 2016: Journal of Genetics
https://www.readbyqxmd.com/read/27636101/differential-expression-of-mir-4520a-associated-with-pyrin-mutations-suggesting-a-role-of-autophagy-in-familial-mediterranean-fever-fmf
#11
H Latsoudis, M-F Mashreghi, J R Grün, H-D Chang, B Stuhlmueller, A Repa, I Gergiannaki, E Kabouraki, T Haeupl, A Radbruch, P Sidiropoulos, D Kardassis, D T Boumpas, G N Goulielmos
Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent, acute and self-limiting attacks of fever. Mutations in MEFV gene encoding pyrin account for FMF but the high number of heterozygote patients with typical symptoms of the disease has driven a number of alternative aetiopathogenic hypotheses. The MEFV gene was knocked down in human myelomonocytic cells that express endogenous pyrin to identify deregulated microRNAs (miRNAs). Microarray analyses revealed 29 significantly differentially expressed miRNAs implicated in pathways associated with cellular integrity and survival...
September 16, 2016: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/27621632/association-between-sequence-variations-of-the-mediterranean-fever-gene-and-the-risk-of-migraine-a-case-control-study
#12
Salih Coşkun, Sefer Varol, Hasan H Özdemir, Sercan Bulut Çelik, Metin Balduz, Mehmet Akif Camkurt, Abdullah Çim, Demet Arslan, Mehmet Uğur Çevik
Migraine pathogenesis involves a complex interaction between hormones, neurotransmitters, and inflammatory pathways, which also influence the migraine phenotype. The Mediterranean fever gene (MEFV) encodes the pyrin protein. The major role of pyrin appears to be in the regulation of inflammation activity and the processing of the cytokine pro-interleukin-1β, and this cytokine plays a part in migraine pathogenesis. This study included 220 migraine patients and 228 healthy controls. Eight common missense mutations of the MEFV gene, known as M694V, M694I, M680I, V726A, R761H, K695R, P369S, and E148Q, were genotyped using real-time polymerase chain reaction with 5' nuclease assays, which include sequence specific primers, and probes with a reporter dye...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/27587294/prevalence-and-significance-of-mefv-gene-mutations-in-patients-with-gouty-arthritis
#13
Ahmet Karaarslan, Senol Kobak, Işın Kaya, Nazım Intepe, Mehmet Orman, Afig Berdelı
Gouty arthritis is a chronic erosive autoinflammatory disease. Pyrin has anti-inflammatory effects in the regulation of inflammasome and is encoded by the MEFV gene. The relationship between different rheumatic diseases and the MEFV gene mutations was demonstrated. The aim of this study was to determine the frequency of MEFV gene mutations in patients with gouty arthritis and identify a possible correlation with disease phenotype. Ninety-three patients with gouty arthritis and 102 healthy controls, compatible with age, gender and ethnicity, were included in the study...
November 2016: Rheumatology International
https://www.readbyqxmd.com/read/27551868/-not-available
#14
Per Wekell, Anna Karlsson, Anders Fasth, Stefan Berg
Familial Mediterranean fever - an important disease in a globalised world Familial Mediterranean fever (FMF) is characterized by recurrent febrile attacks during 1/2-3 days associated with peritonitis, pleuritis and arthritis. FMF is the most common monogenic autoinflammatory disease in the world, with over 100 000 affected individuals. It is particularly common in individuals with an origin in the eastern Mediterranean Basin, where the disease has a prevalence of 100-200 per 100 000. The gene for FMF (MEFV) was identified in 1997 with an autosomal recessive inheritance; however, a significant proportion (≈25%) of clinical patients lack two mutations...
2016: Läkartidningen
https://www.readbyqxmd.com/read/27513391/mefv-mutations-in-iranian-azari-turkish-patients-with-henoch-sch%C3%A3-nlein-purpura
#15
Mortaza Bonyadi, Mahdieh Younesi, Mandana Rafeey, Mahnaz Sadeghi Shabestari, Fakhrossadat Mortazavi
BACKGROUND/AIM: The aim of the current study was to screen the rate of MEFV mutations in Henoch-Schönlein purpura (HSP) and to investigate the association of these mutations plus clinical symptoms with HSP disease in the Iranian Azari Turkish ethnic group. MATERIALS AND METHODS: The study groups included 40 unrelated HSP patients and 200 apparently healthy people without any kind of inflammatory diseases as a control group. Molecular screening was performed for eight main mutations, namely M694V, M694I, M680I, V726A, E148Q, R761H, P396S, and R408Q, using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP), and sequencing...
2016: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/27490719/literature-informed-analysis-of-a-genome-wide-association-study-of-gestational-age-in-norwegian-women-and-children-suggests-involvement-of-inflammatory-pathways
#16
Jonas Bacelis, Julius Juodakis, Verena Sengpiel, Ge Zhang, Ronny Myhre, Louis J Muglia, Staffan Nilsson, Bo Jacobsson
BACKGROUND: Five-to-eighteen percent of pregnancies worldwide end in preterm birth, which is the major cause of neonatal death and morbidity. Approximately 30% of the variation in gestational age at birth can be attributed to genetic factors. Genome-wide association studies (GWAS) have not shown robust evidence of association with genomic loci yet. METHODS: We separately investigated 1921 Norwegian mothers and 1199 children from pregnancies with spontaneous onset of delivery...
2016: PloS One
https://www.readbyqxmd.com/read/27482109/site-specific-phosphorylation-and-microtubule-dynamics-control-pyrin-inflammasome-activation
#17
Wenqing Gao, Jieling Yang, Wang Liu, Yupeng Wang, Feng Shao
Pyrin, encoded by the MEFV gene, is best known for its gain-of-function mutations causing familial Mediterranean fever (FMF), an autoinflammatory disease. Pyrin forms a caspase-1-activating inflammasome in response to inactivating modifications of Rho GTPases by various bacterial toxins or effectors. Pyrin-mediated innate immunity is unique in that it senses bacterial virulence rather than microbial molecules, but its mechanism of activation is unknown. Here we show that Pyrin was phosphorylated in bone marrow-derived macrophages and dendritic cells...
August 16, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27478502/a-balanced-chromosomal-translocation-involving-chromosomes-3-and-16-in-a-patient-with-mayer-rokitansky-kuster-hauser-syndrome-reveals-new-candidate-genes-at-3p22-3-and-16p13-3
#18
Lacey S Williams, Hyung-Goo Kim, Vera M Kalscheuer, J Matthew Tuck, Lynn P Chorich, Megan E Sullivan, Allison Falkenstrom, Richard H Reindollar, Lawrence C Layman
BACKGROUND: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, or the congenital absence of uterus and vagina, is the most severe anomaly of the female reproductive tract. It affects 1 in 5,000 females, and is the second most common cause of primary amenorrhea. The etiology remains unknown in most patients, although four single gene defects and some repetitive copy number variants (CNVs) have been identified. Translocations in MRKH patients are very rare, and reported only in three patients previously without breakpoint mapping...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27473114/familial-mediterranean-fever-is-no-longer-a-rare-disease-in-japan
#19
Kiyoshi Migita, Yasumori Izumi, Yuka Jiuchi, Nozomi Iwanaga, Chieko Kawahara, Kazunaga Agematsu, Akihiro Yachie, Junya Masumoto, Keita Fujikawa, Satoshi Yamasaki, Tadashi Nakamura, Yoshifumi Ubara, Tomohiro Koga, Yoshikazu Nakashima, Toshimasa Shimizu, Masataka Umeda, Fumiaki Nonaka, Michio Yasunami, Katsumi Eguchi, Koh-Ichiro Yoshiura, Atsushi Kawakami
BACKGROUND: The aim of this study was to evaluate the clinical manifestations and prevalence of familial Mediterranean fever (FMF) in Japanese patients with unexplained fever and rheumatic manifestations. METHODS: We enrolled 601 patients with unexplained fever or suspected FMF throughout Japan between 2009 and 2015. Patients were divided into three groups according to Tel Hashomer criteria: sure FMF, probable FMF, and non-FMF patients, including definitive rheumatic diseases...
2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27467001/mefv-gene-variation-r202q-is-associated-with-metabolic-syndrome
#20
A Balkarli, M Akyol, E Tepeli, L Elmas, V Cobankara
OBJECTIVE: MEFV (Mediterranean fever) gene encoding pyrin regulates inflammatory responses. It has been shown that MEFV gene variations are associated with higher acute phase responses and altered course in the different inflammatory diseases. MEFV gene variations may affect the course of metabolic syndrome components. PATIENTS AND METHODS: This study included 50 patients with metabolic syndrome and 50 unrelated healthy controls. Genomic DNAs were isolated from patients and healthy controls with standard methods and analysis of exon 2 and 10 of MEFV gene was performed by using Sanger sequencing method...
July 2016: European Review for Medical and Pharmacological Sciences
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