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behcet genetics

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https://www.readbyqxmd.com/read/29034643/epididymo-orchitis-in-bechet-s-disease-a-review-of-the-wide-spectrum-of-the-disease
#1
Meletios A Kanakis, Aristeides G Vaiopoulos, George A Vaiopoulos, Phaedon G Kaklamanis
 Behçet's disease is a chronic, recurrent, inflammatory disorder characterized by orogenital ulcers and skin lesions; serious manifestations also include ocular, large vessel, gastrointestinal and neurological involvement. Genetic and unknown environmental factors modify the wide clinical spectrum of the disease. During the long clinical course of the disease, testicular and epididymal involvement has been reported, with scrotal pain and swelling being the most common symptoms. In this review, we discuss the various aspects of epididymo-orchitis in Behcet's disease patients, and we evaluate the diagnostic approaches as well as the empirical therapeutic modalities of this entity...
August 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28980900/one-year-in-review-2017-beh%C3%A3-et-s-syndrome
#2
REVIEW
Gulen Hatemi, Emire Seyahi, Izzet Fresko, Rosaria Talarico, Vedat Hamuryudan
A meta-analysis showed that methodological differences in prevalence studies such as a sample survey design or census design may be responsible for some of the variance in BS prevalence reported across countries, in addition to a true geographic variation. Efforts towards developing a data driven core set of outcome measures for clinical trials is continuing. Multimodal imaging using color fundus photography, fluorescein angiography, and optical coherence tomography is essential in visualising diagnostic features, detecting structural changes, and monitoring disease activity and response to treatment in Behçet's uveitis...
September 29, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28966507/thiopurine-s-methyltransferase-polymorphisms-in-korean-dermatologic-patients
#3
Minseok Lee, Jimyung Seo, Dongsik Bang, Do Young Kim
BACKGROUND: Thiopurine S-methyltransferase (TPMT) is an important enzyme in the metabolism of thiopurines including azathioprine (AZA), 6-mercaptopurine, and 6-thioguanine. TPMT genotyping is widely used for screening of AZA-related toxicity during routine clinical practice in Korea. However, the data of TPMT genotypes and its AZA-related toxicity have not been studied in the field of dermatology. OBJECTIVE: The aim of this study was to evaluate the genetic basis of TPMT polymorphism in Korean dermatologic patients and subsequently to investigate the relationship between mutant TPMT and adverse responses to AZA treatment...
October 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28954091/beh%C3%A3-et-s-disease-review-with-emphasis-on-dermatological-aspects
#4
REVIEW
Maria Antonieta Rios Scherrer, Vanessa Barreto Rocha, Lucas Campos Garcia
Behçet's disease is a systemic vasculitis characterized by attacks of acute inflammation, which can affect almost every vascularized area of the body. There is a close correlation between the geographical distribution of HLA-B51 and its prevalence. In the etiopathogenesis there are indications of genetic susceptibility associated with environmental influence. Among the involved genes are those that encompass innate and adaptive immunities. Polymorphisms and epistatic interactions in several genes are described, as well as the presence of imbalance lineage between HLA-B51 and A (MICA)...
July 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28916023/beh%C3%A3-et-disease-new-aspects
#5
Isil Bulur, Meltem Onder
Behçet disease is currently considered an "autoinflammatory disease" triggered by infection and environmental factors in genetically predisposed individuals. Although the disease is characterized by recurrent oral and genital aphthous ulcers and ocular involvement, it can affect multiple organ systems. Complex aphthosis is characterized by recurrent oral and/or genital aphthous ulcers. It is important to evaluate the patient with complex aphthosis for Behçet disease and related systemic disorders. We discuss the etiopathogenesis, clinical features, diagnostic criteria, and treatment approaches for complex aphthosis and Behçet disease in light of the current literature...
September 2017: Clinics in Dermatology
https://www.readbyqxmd.com/read/28844827/beh%C3%A3-et-disease-serum-is-immunoreactive-to-neurofilament-medium-which-share-common-epitopes-to-bacterial-hsp-65-a-putative-trigger
#6
S Lule, A I Colpak, B Balci-Peynircioglu, Y Gursoy-Ozdemir, S Peker, U Kalyoncu, A Can, N Tekin, D Demiralp, T Dalkara
Autoimmune and dysimmune inflammatory mechanisms on a genetically susceptible background are implicated in the etiology of Behçet's Disease (BD). Heat-shock protein-65 (HSP-65) derived from Streptococcus sanguinis was proposed as a triggering factor based on its homology with human HSP-60. However, none of the autoantigens identified so far in sera from BD share common epitopes with bacterial HSP-65 or has a high prevalence. Here, we report that sera from BD patients are immunoreactive against filamentous neuronal processes in the mouse brain, retina and scrotal skin in great majority of patients...
August 24, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28706259/genetic-polymorphisms-of-c-type-lectin-receptors-in-behcet-s-disease-in-a-chinese-han-population
#7
Yi Yang, Handan Tan, Bolin Deng, Hongsong Yu, Guannan Su, Jiayue Hu, Qingfeng Cao, Gangxiang Yuan, Aize Kijlstra, Peizeng Yang
C-type lectin receptors (CLRs) have been demonstrated to be involved in several autoimmune diseases. The role of CLRs in Behcet's disease (BD) is unknown and thus was the purpose of this study. A two-stage association study was carried out and a total of 766 BD patients and 1674 healthy controls were recruited. Genotyping of 14 SNPs of 13 genes in CLRs was carried out by iPLEX Gold genotyping or polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The expression of mannose binding lectin 2 (MBL2) and killer cell lectin like receptor C4 (KLRC4) was measured by Real-time PCR...
July 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28694762/clinical-significance-of-ncoa5-gene-rs2903908-polymorphism-in-beh%C3%A3-et-s-disease
#8
Aydin Rustemoglu, Esra Erkol Inal, Ahmet Inanir, Duygu Ekinci, Ulker Gul, Serbulent Yigit, Omer Ates, Nevin Karakus
Behçet's disease (BD) is an autoimmune multisystemic disease. The precise etiology of BD is not fully understood; however, it is thought that interactions between genetic and environmental factors play an essential role in its pathogenesis. The nuclear receptor coactivator-5 (NCOA5) gene encodes a coregulator for nuclear receptor subfamily 1 group D member 2 (NR1D2) and estrogen receptor 1 and 2 (ESR1 and ESR2). Also, the NCOA5 gene insufficiency leads to an elevated expression of IL-6, and increased levels of IL-6 were found to be related to the pathogenesis of BD...
2017: EXCLI journal
https://www.readbyqxmd.com/read/28693405/genetics-and-immunodysfunction-underlying-beh%C3%A3-et-s-disease-and-immunomodulant-treatment-approaches
#9
Arash Salmaninejad, Arezoo Gowhari, Seyedmojtaba Hosseini, Saeed Aslani, Meysam Yousefi, Tayyeb Bahrami, Masoume Ebrahimi, Abolfazl Nesaei, Masoud Zal
Behçet's disease (BD) is a chronic autoimmune condition primarily prevalent in populations along the Mediterranean Sea. The exact etiology of BD has not been fully explained yet, but the disease occurrence is associated with a genetic factor, human leukocyte antigen (HLA)-B51 antigen. Among the various immunodysfunctions that are found in BD, patients are increased neutrophil motility and superoxide production, as well as elevated production of tumor necrosis factor (TNF)-α and decreased production of interleukin (IL)-10...
December 2017: Journal of Immunotoxicology
https://www.readbyqxmd.com/read/28651467/erap1-and-hla-c-interaction-in-inflammatory-bowel-disease-in-the-spanish-population
#10
Patricia Castro-Santos, Marco Antonio Moro-García, Raquel Marcos-Fernández, Rebeca Alonso-Arias, Roberto Díaz-Peña
Large genome-wide analysis studies (GWAS) and meta-analyses have dramatically increased our knowledge of the genetic risk factors of inflammatory bowel disease (IBD), identifying at least 163 loci. The endoplasmic reticulum aminopeptidase-2 ( ERAP2) gene has been reported as a potential candidate gene for IBD. GWAS have also shown the potential associations between ERAP single nucleotide polymorphisms (SNP) loci and susceptibility to several autoimmune diseases, and ERAP1 and ERAP2 polymorphisms are related to HLA class I-associated diseases, including ankylosing spondylitis and Behçet's disease...
January 1, 2017: Innate Immunity
https://www.readbyqxmd.com/read/28589131/the-association-of-chemokine-gene-polymorphisms-with-vkh-and-behcet-s-disease-in-a-chinese-han-population
#11
Yang Huang, Hongsong Yu, Qingfeng Cao, Jing Deng, Xinyue Huang, Aize Kijlstra, Peizeng Yang
To investigate the association of chemokine gene polymorphisms and Behcet's disease (BD) and Vogt Koyanagi Harada (VKH) disease in a Chinese Han population. A case-control study was performed. Three hundred and seventy-one BD patients, 371 VKH disease patients, and 605 healthy controls were recruited to determine genetic variants of 26 SNPs in 12 chemokine genes with iPLEX Gold genotyping assay and Sequenom MassARRAY or TaqMan SNP assays. In this study, Puncorr values showed a weak association of five SNPs of five genes in BD and three SNPs of three genes in VKH disease...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28582318/recent-advances-in-childhood-vasculitis
#12
Seza Ozen, Nazire Pinar Acar-Ozen
PURPOSE OF REVIEW: The review aims to summarize the recent findings in vasculitis that may have an impact in our understanding or management of these diseases. RECENT FINDINGS: We are learning more about monogenic diseases that closely mimic the pediatric vasculitides. Deficiency of adenosine deaminase 2 can present with a polyarteritis nodosa (PAN)-like picture and should be included in the differential of all pediatric cases of PAN with a family history or in cases with early stroke, or in cases resistant to conventional therapy...
September 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28529705/case-report-beh%C3%A3-et-s-disease-accompanied-with-vitiligo
#13
Ragıp Ertaş, Kemal Özyurt, Atıl Avcı, Sule Ketenci Ertas, Mustafa Atasoy
Recently, a few case reports and clinical studies have been published that explore the association of Behçet's Disease (BD) and vitiligo, with conflicting results. Genetic and immunological properties of BD and presence of autoantibodies support autoimmunity, but clinical features suggest autoinflammatory diseases. BD is thought to be a cornerstone between autoimmune and autoinflammatory diseases. On the other hand, vitiligo has been accepted as an autoimmune disease with associations of other autoimmune disorders and there is a possible role of autoimmunity in pathogenesis of the disease...
2017: F1000Research
https://www.readbyqxmd.com/read/28427473/intestinal-beh%C3%A3-et-and-crohn-s-disease-two-sides-of-the-same-coin
#14
REVIEW
Simona Valenti, Romina Gallizzi, Dominique De Vivo, Claudio Romano
Behçet's disease (BD) and Crohn's disease (CD) are chronic immune-mediated, inflammatory disorders affecting many different systems (joints, skin, eyes, gastrointestinal and biliary tracts). Both disorders have fluctuating courses and when gastrointestinal symptoms are prevalent, differential diagnosis can be difficult. BD involves the gastrointestinal tract in 10-15% of cases with localized lesions in the ileocecal region. The clinical picture is heterogeneous with various clusters of disease expression. CD is a chronic inflammatory disorder, which can affect any part of the intestinal tract, as well as extra-intestinal tissue...
April 20, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28283043/birmingham-beh%C3%A3-et-s-service-classification-of-disease-and-application-of-the-2014-international-criteria-for-beh%C3%A3-et-s-disease-icbd-to-a-uk-cohort
#15
COMPARATIVE STUDY
Tim Blake, Luke Pickup, David Carruthers, Erika Marie Damato, Alastair Denniston, John Hamburger, Claire Maxton, Debbie Mitton, Philip I Murray, Peter Nightingale, Ana Poveda-Gallego, Andrea Richards, Andrew Whallett, Deva Situnayake
BACKGROUND: This study reports on the analysis of the application and diagnostic predictability of the revised 2014 ICBD criteria in an unselected cohort of UK patients, and the ensuing organ associations and patterns of disease. METHODS: A retrospective cohort study was conducted using a database of electronic medical records. Three categories were recognised: clinically defined BD, incomplete BD and rejected diagnoses of BD. We applied the ISG 1990 and ICBD 2014 classification criteria to these subgroups to validate diagnostic accuracy against the multidisciplinary assessment...
March 11, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28250463/vasculitis-syndromes-shared-genetic-risk-for-beh%C3%A3-et-disease-and-crohn-s-disease
#16
Jessica McHugh
No abstract text is available yet for this article.
April 2017: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/28148585/behcet-s-disease
#17
Jagdish R Nair, Robert J Moots
Behçet's disease (BD) is a chronic relapsing and remitting vasculitis of unknown aetiology. It has the capacity to affect almost all organ systems because of its potential to involve both arteries and veins of all sizes, resulting in significant organ-threatening morbidity and mortality. Traditionally known as the 'silk road' disease, it has a worldwide occurrence. The aetiopathological mechanisms of disease development in BD remain poorly understood, but genome wide studies show human leukocyte antigen and non-human leukocyte antigen associations...
February 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/28115215/damaging-heterozygous-mutations-in-nfkb1-lead-to-diverse-immunologic-phenotypes
#18
Meri Kaustio, Emma Haapaniemi, Helka Göös, Timo Hautala, Giljun Park, Jaana Syrjänen, Elisabet Einarsdottir, Biswajyoti Sahu, Sanna Kilpinen, Samuli Rounioja, Christopher L Fogarty, Virpi Glumoff, Petri Kulmala, Shintaro Katayama, Fitsum Tamene, Luca Trotta, Ekaterina Morgunova, Kaarel Krjutškov, Katariina Nurmi, Kari Eklund, Anssi Lagerstedt, Merja Helminen, Timi Martelius, Satu Mustjoki, Jussi Taipale, Janna Saarela, Juha Kere, Markku Varjosalo, Mikko Seppänen
BACKGROUND: The nuclear factor κ light-chain enhancer of activated B cells (NF-κB) signaling pathway is a key regulator of immune responses. Accordingly, mutations in several NF-κB pathway genes cause immunodeficiency. OBJECTIVE: We sought to identify the cause of disease in 3 unrelated Finnish kindreds with variable symptoms of immunodeficiency and autoinflammation. METHODS: We applied genetic linkage analysis and next-generation sequencing and functional analyses of NFKB1 and its mutated alleles...
September 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28045058/identification-of-genetic-susceptibility-loci-for-intestinal-beh%C3%A3-et-s-disease
#19
Seung Won Kim, Yoon Suk Jung, Jae Bum Ahn, Eun-Soon Shin, Hui Won Jang, Hyun Jung Lee, Tae Il Kim, Do Young Kim, Dongsik Bang, Won Ho Kim, Jae Hee Cheon
Several recent genome-wide association studies (GWAS) identified susceptibility loci/genes for Behçet's disease (BD). However, no study has specifically investigated the genetic susceptibility loci associated with intestinal involvement in BD. We aimed to identify distinctive genetic susceptibility loci/genes associated with intestinal involvement in BD and determine their roles in intestinal inflammation as well as their interactions with genes involved in inflammatory bowel disease (IBD). GWAS and validation studies showed intestinal BD-specific associations with an NAALADL2 gene locus (rs3914501, P = 3...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28031553/genetic-origin-of-beh%C3%A3-et-s-disease-population-in-denizli-turkey-population-genetics-data-analysis-historical-demography-and-geographical-perspectives-based-on-%C3%AE-globin-gene-cluster-haplotype-variation
#20
COMPARATIVE STUDY
O Ozturk, S Arikan, A Bahadir, A Atalay, E O Atalay
In our study, we aimed to investigate the possible genetic drift, relationships, expansion and historical origin based on haplotype frequencies of the β-globin gene cluster of normal and Behçet's disease (BD) population in Denizli, Turkey. We examined blood DNA samples obtained from our DNA bank. The association of population genetic parameters such as haplotypes, diversity, differentiation, Hardy-Weinberg equilibrium and demographic analysis for two populations was performed by Arlequin ver. 3.5. Our results show that both populations have high similarity in genetic parameters in terms of development and expansion based on haplotype diversity through the history...
January 2017: Genes and Immunity
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