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https://www.readbyqxmd.com/read/28629316/a-multiplex-primer-design-algorithm-for-target-amplification-of-continuous-genomic-regions
#1
Ahmet Rasit Ozturk, Tolga Can
BACKGROUND: Targeted Next Generation Sequencing (NGS) assays are cost-efficient and reliable alternatives to Sanger sequencing. For sequencing of very large set of genes, the target enrichment approach is suitable. However, for smaller genomic regions, the target amplification method is more efficient than both the target enrichment method and Sanger sequencing. The major difficulty of the target amplification method is the preparation of amplicons, regarding required time, equipment, and labor...
June 19, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28624931/familial-mediterranean-fever-review-of-the-literature
#2
Mansour Alghamdi
Familial Mediterranean fever (FMF) is the most common monogenic periodic fever syndrome and characterized by recurrent episodes of fever, serositis, arthritis, dermal manifestations, and long-term renal complications. The MEFV gene was described in 1997 as the gene responsible for FMF and is inherited in autosomal recessive manner. It encodes mutated protein pyrin, an important player in the innate immune system and the component of inflammasome which leads to exaggerated inflammatory response through uncontrolled production of interleukin-1...
June 18, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28597968/genetic-epidemiology-of-familial-mediterranean-fever-through-integrative-analysis-of-whole-genome-and-exome-sequences-from-middle-east-and-north-africa
#3
Remya Koshy, Ambily Sivadas, Vinod Scaria
Familial Mediterranean fever (FMF), an autosomal recessive and rare autoinflammatory disease is caused by genetic mutations in the MEFV gene and is highly prevalent in the Mediterranean basin. Though the carrier frequency of specific disease variants in the MEFV gene has been reported from isolated studies, a comprehensive view of variants in the Mediterranean region has not been possible due to paucity of data. The recent availability of whole-genome and whole-exome datasets prompted us to study the genetic epidemiology of MEFV variants in the region...
June 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28590056/r202q-m694v-as-novel-mefv-gene-mutations-in-chronic-periodontitis-and-familial-mediterranean-fever
#4
Ö Fentoğlu, G Dinç, Ö Bağcı, A Doğru, I İlhan, F Y Kırzıoğlu, H Orhan
BACKGROUND AND OBJECTIVE: Familial Mediterranean fever (FMF) and chronic periodontitis are inflammatory diseases leading to an increase in the number of inflammasomes. To date, no published studies have reported on mutations in the Mediterranean fever (MEFV) gene in patients with chronic periodontitis, although the roles of MEFV gene mutations in FMF and FMF-associated amyloidosis (FMF-A) are well known. Therefore, the aim of this study was to evaluate the frequencies of MEFV gene mutations and serum amyloid A (SAA) and high-sensitivity C-reactive protein (hs-CRP) levels in patients with chronic periodontitis, FMF and FMF-A...
June 7, 2017: Journal of Periodontal Research
https://www.readbyqxmd.com/read/28573371/frequency-of-familial-mediterranean-fever-mefv-gene-mutations-in-patients-with-biopsy-proven-primary-glomerulonephritis
#5
Can Huzmeli, Ferhan Candan, Gokhan Bagci, Demet Alaygut, Ali Yilmaz, Asim Gedikli, Binnur Bagci, Meryem Timucin, Ilhan Sezgin, Mansur Kayatas
Primary glomerulopathies are those disorders that affect glomerular structure, function, or both in the absence of a multisystem disorder. We aimed to evaluate the frequency of MEFV gene mutation to show possible coexistence of FMF in patients diagnosed with biopsy-proven primary glomerulonephritis (GN). A total of 64 patients with biopsy-proven primary GN were included in the study. MEFV gene mutations examined retrospectively. The mean age of patients was 39.6 ± 13.4 (range 18-69), 35 of patients were female and 29 of patients were male...
June 1, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28539550/a-retrospective-analysis-of-7-cases-of-familial-mediterranean-fever
#6
Chie Ogita, Kiyoshi Matsui, Dai Kisida, Masahide Yazaki, Akinori Nakamura, Satosi Kaku, Hidehiko Makino, Rei Tadokoro, Kouta Azuma, Kazuyuki Tsuboi, Mei Tani, Masao Tamura, Takahiro Yoshikawa, Mai Morimoto, Aki Nishioka, Masahiro Sekiguchi, Naoto Azuma, Masayasu Kitano, Shinichiro Tsunoda, Hideaki Sawai, Hajime Sano
BACKGROUND: Familial mediterranean fever (FMF) is a single inherited autoinflammatory disease characterized by periodic fever with relatively short duration of 1 to 3 days and sterile serositis. Although the prevalence rate is highest in the Mediterranean coastal area, a large number of cases have been reported recently by genetic analysis by identification of MEFV (Mediterranean fever) which is responsible gene in Japan too. In outpatient department of rheumatology, diagnosis and treatment of FMF is performed in cases where fever and abdominal pain attack are repeated for a short period of time...
2017: Nihon Rinshō Men'eki Gakkai Kaishi, Japanese Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28499374/clinical-improvement-of-renal-amyloidosis-in-a-patient-with-systemic-onset-juvenile-idiopathic-arthritis-who-received-tocilizumab-treatment-a-case-report-and-literature-review
#7
Songkiat Chantarogh, Soamarat Vilaiyuk, Thipwimol Tim-Aroon, Suchin Worawichawong
BACKGROUND: Juvenile idiopathic arthritis (JIA) is a common rheumatic disease in children and adolescents. Although JIA may cause secondary amyloidosis, this is a rare complication in patients with JIA and other rheumatic diseases. Many previous studies have revealed that common heterozygous or homozygous mutations in the MEFV gene are associated with systemic-onset JIA (SJIA). CASE PRESENTATION: We herein report a case involving a 19-year-old female patient with difficult-to-control SJIA...
May 12, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28483595/mefv-mutations-and-their-relation-to-major-clinical-symptoms-of-familial-mediterranean-fever
#8
Nilgun Cekin, Murat Eser Akyurek, Ergun Pinarbasi, Filiz Ozen
Familial Mediterranean fever is a common hereditary disease in Turkey. To date, different mutational spectrum of MEFV gene was observed in studies carried out in different regions of Turkey but in most of these studies association of clinical symptoms of FMF to mutant genotypes have not been investigated in details. Here we report the MEFV gene variations in exons 2, 3, 5 and 10 and their relations to major clinical symptoms of FMF in 514 unrelated (245 males and 269 females) Turkish patients. MEFV mutations were found in 45% (n=230) of patients and 55% (n=284) of patients did not have any mutations...
May 5, 2017: Gene
https://www.readbyqxmd.com/read/28482392/-three-cases-with-familial-mediterranean-fever-misdiagnosed-as-juvenile-idiopathic-arthritis
#9
J Li, Y Zhang, W Wang, L Q Zhong, H M Song
Objective: To explore the key points of diagnosis and treatment of familial Mediterranean fever(FMF). Method: The clinical data of 3 cases with FMF misdiagnosed as Juvenile idiopathic arthritis(JIA)seen from January 2014 to June 2016 in Peking Union Medical College Hospital were retrospectively collected. The clinical manifestations, gene mutation characteristics, treatment and prognosis were also evaluated. Result: Two cases were male and 1 was female. The mean age of onset was 17 months (3 months to 36 months), while the average age of diagnosis was 6 years and 8 months (24 months to 11 years)...
May 4, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28466819/familial-mediterranean-fever-observations-from-a-pilot-gene-expression-microarray-analysis-study
#10
R Mahfouz, K Kreidieh, R A Khalek, S Yazbek
Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease affecting people of Mediterranean ancestry. The disease is caused by mutations in the MEFV gene located on chromosome 16p13.3. The aim of this pilot study was to assess global gene expression and identify genes and pathways involved in FMF that could be downstream to MEFV mutations or could be novel involved. EDTA blood samples were collected from 14 patients showing FMF-like symptoms and age-matched to 7 controls showing healthy conditions...
March 31, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/28386255/familial-mediterranean-fever-recent-developments-in-pathogenesis-and-new-recommendations-for-management
#11
REVIEW
Seza Özen, Ezgi Deniz Batu, Selcan Demir
Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease (AID) affecting mainly the ethnic groups originating from Mediterranean basin. The disease is characterized by self-limited inflammatory attacks of fever and polyserositis along with elevated acute phase reactants. FMF is inherited autosomal recessively; however, a significant proportion of heterozygotes also express the phenotype. FMF is caused by mutations in the MEFV gene coding for pyrin, which is a component of inflammasome functioning in inflammatory response and production of interleukin-1β (IL-1β)...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28382039/genetic-and-epigenetic-determinants-in-autoinflammatory-diseases
#12
REVIEW
Damiana Álvarez-Errico, Roser Vento-Tormo, Esteban Ballestar
The concept of autoinflammation has evolved over the past 20 years, beginning with the discovery that mutations in the Mediterranean Fever (MEFV) gene were causative of Familial Mediterranean Fever. Currently, autoinflammatory diseases comprise a wide range of disorders with the common features of recurrent fever attacks, prevalence of hyperreactive innate immune cells, and signs of inflammation that can be systemic or organ specific in the absence of pathogenic infection of autoimmunity. Innate immune cells from the myeloid compartment are the main effectors of uncontrolled inflammation that is caused in great extent by the overproduction of inflammatory cytokines such as IL-1β and IL-18...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28367474/genetic-analysis-of-southwestern-iranian-patients-with-familial-mediterranean-fever
#13
Mahmoud Haghighat, Mozhgan Moghtaderi, Shirin Farjadian
BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. METHODS: To evaluate clinical symptoms and common genetic mutations in southwestern Iranian patients with FMF, 20 unrelated patients were enrolled in this study based on clinical criteria. A panel of 12 common MEFV gene mutations was tested. RESULTS: The most frequent clinical presentations of the patients were fever, colicky abdominal pain and arthritis...
April 2017: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/28362189/canakinumab-for-the-treatment-of-familial-mediterranean-fever
#14
Huri Ozdogan, Serdal Ugurlu
Familial Mediterranean fever (FMF) is the most frequent of all hereditary autoinflammatory syndromes. It is characterized by recurrent attacks of fever and serositis. If not treated it may be complicated with AA amyloidosis. It is caused by mutations in the MEFV gene that encodes pyrin which is involved in the regulation of IL-1β. The mainstay of treatment is colchicine, however a subset of patients requires an alternative treatment either due to inadequate response or intolerance. The accumulating data indicates that anti IL-1 drugs are effective in treating colchicine resistant FMF cases and improving their quality of life...
April 10, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28342915/regulated-in-development-and-dna-damage-responses-1-redd1-links-stress-with-il-1%C3%AE-mediated-familial-mediterranean-fever-attack-through-autophagy-driven-neutrophil-extracellular-traps
#15
Panagiotis Skendros, Akrivi Chrysanthopoulou, François Rousset, Konstantinos Kambas, Athanasios Arampatzioglou, Alexandros Mitsios, Veronique Bocly, Theocharis Konstantinidis, Philippe Pellet, Iliana Angelidou, Eirini Apostolidou, Dimitrios Ritis, Victoria Tsironidou, Sotiris Galtsidis, Charalampos Papagoras, Dimitrios Stakos, Georgios Kouklakis, Vasiliki Dalla, Maria Koffa, Ioannis Mitroulis, Ioannis Theodorou, Konstantinos Ritis
BACKGROUND: Familial Mediterranean fever (FMF) is an IL-1β-dependent autoinflammatory disease caused by mutations of Mediterranean fever (MEFV) encoding pyrin and characterized by inflammatory attacks induced by physical or psychological stress. OBJECTIVE: We investigated the underlying mechanism that links stress-induced inflammatory attacks with neutrophil activation and release of IL-1β-bearing neutrophil extracellular traps (NETs) in patients with FMF. METHODS: RNA sequencing was performed in peripheral neutrophils from 3 patients with FMF isolated both during attacks and remission, 8 patients in remission, and 8 healthy subjects...
March 23, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28340799/is-there-a-long-term-risk-for-donors-with-heterozygous-mefv-mutation-after-kidney-donation
#16
S Karakose, S Erdogmus, S Akturk, A Tuzuner, S Sengul, K Keven
BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal-recessive autoinflammatory disorder manifested severely by systemic amyloidosis. It has been hypothesized that heterozygous carriers may also have susceptibility to certain symptoms or even diseases. Because the living kidney donors of patients with FMF are generally relatives of the kidney recipients, there is a high possibility that the donors will have a heterozygous mutation of the FMF gene. The goal of this study was to investigate the long-term kidney function of donors who are carriers of the Mediterranean fever (MEFV) gene...
April 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28302131/a-survey-of-resistance-to-colchicine-treatment-for-french-patients-with-familial-mediterranean-fever
#17
REVIEW
Alice Corsia, Sophie Georgin-Lavialle, Véronique Hentgen, Eric Hachulla, Gilles Grateau, Albert Faye, Pierre Quartier, Linda Rossi-Semerano, Isabelle Koné-Paut
BACKGROUND: Colchicine is the standard treatment for familial Mediterranean fever (FMF), preventing attacks and inflammatory complications. True resistance is rare and yet not clearly defined. We evaluated physicians' definition of colchicine resistance and report how they manage it. PATIENTS AND METHODS: We recruited patients with a clinical diagnosis of FMF, one exon-10 Mediterranean fever (MEFV) gene mutation and considered resistant to colchicine, via networks of expert physicians...
March 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28289585/the-mefv-gene-pathogenic-variants-and-phenotype-genotype-correlation-in-children-with-familial-mediterranean-fever-in-the-%C3%A3-anakkale-population
#18
F Battal, F Silan, N Topaloğlu, H Aylanç, Ş Yıldırım, F Köksal Binnetoğlu, M Tekin, N Kaymaz, O Ozdemir
The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 60 children diagnosed with familial Mediterranean fever (FMF) and to compare the phenotype-genotype correlation. Genomic DNA was isolated by the spin-column method from peripheral blood samples (collected in vacutainers containing EDTA) and buccal smears. The MEFV gene profiles for the current FMF cohort were genotyped by pyrosequencing and direct Sanger sequencing techniques for the target pathogenic variants...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28211254/egyptian-tale-from-india-application-of-whole-exome-sequencing-in-diagnosis-of-atypical-familial-mediterranean-fever
#19
Pulukool Sandhya, Shamsudheen Karuthedath Vellarikkal, Aswin Nair, Rowmika Ravi, John Mathew, Rijith Jayarajan, Anoop Kumar, Ankit Verma, Ambily Sivadas, Debashish Danda, Sridhar Sivasubbu, Vinod Scaria
Clinical diagnosis of autoinflammatory diseases requires a high degree of clinical suspicion and clinching molecular evidence to substantiate the diagnosis. This is more so in populations with low prevalence of these disorders. In this report, we describe the case of a young man from India with recurrent fever and persistent arthritis. The patient's forefathers were of Egyptian ancestry who practiced consanguinity. Molecular genetic analysis using whole-exome sequencing suggested the presence of variants c...
February 17, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28207965/is-colchicine-more-effective-to-prevent-periodic-fever-aphthous-stomatitis-pharyngitis-and-cervical-adenitis-episodes-in-mediterranean-fever-gene-variants
#20
Muhammed Gunes, Sukru Cekic, Sara Sebnem Kilic
BACKGROUND: Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is the most frequent repetitive fever syndrome in childhood. It is characterized by fever episodes lasting for approximately 3-6 days, once every 3-8 weeks. METHODS: Clinical and laboratory data for PFAPA syndrome patients between January 2010 and December 2014 followed up at a tertiary pediatric care hospital were reviewed. RESULTS: Four hundred children (256 male, 144 female; mean age at diagnosis, 4...
February 16, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
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