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behcet genetics

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https://www.readbyqxmd.com/read/28427473/intestinal-beh%C3%A3-et-and-crohn-s-disease-two-sides-of-the-same-coin
#1
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
#2
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
#3
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
#4
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
#5
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...
January 21, 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
#6
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
#7
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...
December 29, 2016: Genes and Immunity
https://www.readbyqxmd.com/read/27966293/beh%C3%A3-et-syndrome-the-vascular-cluster
#8
Hasan Yazıcı, Emire Seyahi
Although skin-mucosa lesions are common in almost all patients with Behçet syndrome (BS), clinical properties may differ from one patient to another. Within BS, there are subsets with different organ involvement and hence probably different pathological pathways. These subsets can be described as a) solo skin-mucosa disease with no major organ involvement, b) eye disease, c) seronegative spondyloarthropathy-like disease (arthritis, enthesopathy, and folliculitis), d) Crohn-like disease, and finally the topic of this chapter: e) vascular disease...
November 17, 2016: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/27875029/decreased-activity-and-genetic-polymorphisms-of-cyp2c19-in-beh%C3%A3-et-s-disease
#9
Mustafa Tugrul Goktas, R Ozgur Karaca, Said Kalkisim, Lokman Cevik, Levent Kilic, Ali Akdogan, Melih O Babaoglu, Atilla Bozkurt, Leif Bertilsson, Umit Yasar
Behçet's disease (BD) is a systemic autoimmune disorder. Cytochrome P450 enzymes (CYPs) are responsible for various drug metabolism reactions as well as those of endogenous substances which may be associated with autoimmune disease susceptibility. Recently, we reported that in patients with BD, CYP2C9 seems to be down-regulated due to inflammation. In the same Turkish BD patients, we investigated whether also CYP2C19 activity is decreased. Lansoprazole (30 mg) was given as a probe drug to evaluate CYP2C19 activity in 59 patients with BD and 27 healthy control volunteers...
November 22, 2016: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/27791958/one-year-in-review-2016-beh%C3%A3-et-s-syndrome
#10
REVIEW
Gulen Hatemi, Emire Seyahi, Izzet Fresko, Rosaria Talarico, Vedat Hamuryudan
Several articles highlighting the epidemiology, pathogenesis, clinical features, treatment modalities and disease assessment of Behçet's syndrome (BS) have been published during the last year. Clinical and radiological features of lower extremity deep vein thrombosis due to BS can be quite different than those found in thrombosis due to other causes; additionally, frequency of post-thrombotic syndrome is significantly increased in BS. Some clinical and colonoscopic features are useful in differentiating BS from Crohn's disease...
September 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27776949/beh%C3%A3-et-s-disease%C3%A2-and-fmf-two-sides-of-the-same-coin-or-just-an-association-a-cross-sectional-study%C3%A2
#11
Abdulla Watad, Shmuel Tiosano, Dana Yahav, Doron Comaneshter, Yehuda Shoenfeld, Arnon D Cohen, Howard Amital
BACKGROUND: Familial Mediterranean fever (FMF) is a genetic disease, characterized by attacks of fever, arthritis, serositis and pain. Behçet's disease (BD) is an inflammatory disorder with a genetic basis, characterized by oral and genital ulcers, uveitis, pustular erythematous cutaneous lesions, arthritis, central nervous system involvement and possible vascular manifestations such as venous thrombosis, arteritis and aneurysms. OBJECTIVES: To investigate the association and actual differentiation between these two entities in a large-scale population-based study...
October 21, 2016: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/27775096/genetic-analysis-of-innate-immunity-in-behcet-s-disease-identifies-an-association-with-il-37-and-il-18rap
#12
Handan Tan, Bolin Deng, Hongsong Yu, Yi Yang, Lin Ding, Qi Zhang, Jieying Qin, Aize Kijlstra, Rui Chen, Peizeng Yang
Interleukin-1 (IL-1) and the IL-1 receptor (IL-1R) family play an important role in the pathogenesis of inflammatory diseases. This study aimed to investigate the association between single nucleotide polymorphisms (SNP) of IL-1 and IL-1R family genes with Vogt-Koyanagi-Harada (VKH) and Behcet's disease (BD) in Han Chinese. The case-control study was divided into two stages and included 419 VKH cases, 1063 BD cases and 1872 healthy controls. The MassARRAY platform (Sequenom), iPLEX Gold Assay and TaqMan SNP assays were used to score genotypes of 24 SNPs...
October 24, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27660198/pd-1-pd-l-and-autoimmunity-a-growing-relationship
#13
REVIEW
Mohammad Reza Zamani, Saeed Aslani, Arash Salmaninejad, Mohammad Reza Javan, Nima Rezaei
Programmed death 1 (PD-1) and its ligands, namely PD-L1 and PD-L2, are one of the key factors responsible for inhibitory T cell signaling, mediating the mechanisms of tolerance and providing immune homeostasis. Mounting evidence demonstrates that impaired PD-1:PD-L function plays an important role in a variety of autoimmune diseases such as Type 1 diabetes (T1D), encephalomyelitis, inflammatory bowel diseases (IBD), Rheumatoid Arthritis (RA), autoimmune hepatitis (AIH), Behcet's disease (BD), myasthenia gravis (MG), autoimmune uveitis (AU), Sjögren's syndrome (SjS), systemic lupus erythematosus (SLE), systemic sclerosis (SSc), myocarditis, and ankylosing spondylitis (AS)...
December 2016: Cellular Immunology
https://www.readbyqxmd.com/read/27660093/association-study-of-rs924080-and-rs11209032-polymorphisms-of-il23r-il12rb2-in-a-northern-chinese-han-population-with-behcet-s-disease
#14
Xue Qin, Juanjuan Xu, Ziyan Wu, Fei Sun, Hua Chen, Wenjie Zheng, Shan Li, Ping Li, Si Chen, Ming Shen, Wen Zhang, Xin You, Qingjun Wu, Fengchun Zhang, Yong Zhe Li
OBJECTIVES: Two genome-wide association studies (GWAS) have identified the IL-23 receptor- IL-12 receptor β2 (IL23R-IL12RB2) as the susceptibility genetic region in Turkish and Japanese population with Behçet's disease (BD). We investigated the association of this region with BD in a Northern Chinese Han population. METHODS: A total of 407 patients with BD and 421 healthy controls were genotyped for single nucleotide polymorphisms (SNPs) rs924080 and rs11209032 using the Sequenom MassArray system...
December 2016: Human Immunology
https://www.readbyqxmd.com/read/27562285/-behcet-s-disease-and-infection
#15
REVIEW
M H Pei, M F Zhang
Behcet's disease (BD) is a systemic vasculitis of unknown etiology. Uveitis, which is common and therapeutically challenging, is the major ocular manifestation of BD. Researches have shown that, in addition to the genetic components (e.g. HLA-B51), environmental factors such as infection also play important roles in the pathogenesis of BD. In recent years, with the advances in bio-detecting technologies, accumulating evidence has shown an association between microbial infections and previously believed non-infectious immune disorders...
August 2016: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/27555969/low-level-laser-therapy-to-reduce-recurrent-oral-ulcers-in-beh%C3%A3-et-s-disease
#16
D B Gandhi Babu, Sunanda Chavva, Shefali Waghray, Neeharika Satya Jyothi Allam, Marella Kondaiah
Behçet's disease (BD) is a chronic, relapsing multisystemic vascular condition. Behçet's disease was described by Hulusi Behçet in 1937. This rare multisystem relapsing-remitting inflammatory disease is poorly understood but is thought to be an autoimmune inflammatory vasculitic process in a genetically predisposed population. Diagnosis of Behçet's disease is based on International Criteria of Behçet's Disease (ICBD). The present paper describes a case report of Behçet's syndrome where aphthous stomatitis was treated with low level laser therapy...
2016: Case Reports in Dentistry
https://www.readbyqxmd.com/read/27548383/genetic-analysis-with-the-immunochip-platform-in-beh%C3%A3-et-disease-identification-of-residues-associated-in-the-hla-class-i-region-and-new-susceptibility-loci
#17
Lourdes Ortiz-Fernández, Francisco-David Carmona, Marco-Antonio Montes-Cano, José-Raúl García-Lozano, Marta Conde-Jaldón, Norberto Ortego-Centeno, María Jesús Castillo, Gerard Espinosa, Genaro Graña-Gil, Juan Sánchez-Bursón, María Rosa Juliá, Roser Solans, Ricardo Blanco, Ana-Celia Barnosi-Marín, Ricardo Gómez de la Torre, Patricia Fanlo, Mónica Rodríguez-Carballeira, Luis Rodríguez-Rodríguez, Teresa Camps, Santos Castañeda, Juan-Jose Alegre-Sancho, Javier Martín, María Francisca González-Escribano
Behcet's disease (BD) is an immuno-mediated vasculitis in which knowledge of its etiology and genetic basis is limited. To improve the current knowledge, a genetic analysis performed with the Immunochip platform was carried out in a population from Spain. A discovery cohort comprising 278 BD cases and 1,517 unaffected controls were genotyped using the Immunochip platform. The validation step was performed on an independent replication cohort composed of 130 BD cases and 600 additional controls. The strongest association signals were observed in the HLA class I region, being HLA-B*51 the highest peak (overall P = 6...
2016: PloS One
https://www.readbyqxmd.com/read/27547040/genetic-association-of-hla-a-26-a-31-and-b-51-with-behcet-s-disease-in-saudi-patients
#18
Fahda Al-Okaily, Seham Al-Rashidi, Maysoon Al-Balawi, Md Mustafa, Misbahul Arfin, Abdulrahman Al-Asmari
BACKGROUND: HLA-B*51 has been universally associated with Behcet's disease (BD) susceptibility, while different alleles of HLA-A have also been identified as independent BD susceptibility loci in various ethnic populations. The objective of this study was to investigate associations of HLA-A and -B alleles with BD in Saudi patients. MATERIALS AND METHODS: Genotyping for HLA-A and HLA-B was performed using HLA genotyping kit (Lab type((R)) SSO) in 120 Saudi subjects, including 60 BD patients and 60 matched healthy controls...
2016: Clinical Medicine Insights. Arthritis and Musculoskeletal Disorders
https://www.readbyqxmd.com/read/27522479/molecular-and-pathogenic-effects-of-endoplasmic-reticulum-aminopeptidases-erap1-and-erap2-in-mhc-i-associated-inflammatory-disorders-towards-a-unifying-view
#19
REVIEW
José A López de Castro, Carlos Alvarez-Navarro, Ariadna Brito, Pablo Guasp, Adrian Martín-Esteban, Alejandro Sanz-Bravo
The inflammatory diseases that are most strongly associated with major histocompatibility Complex class I (MHC-I) alleles are also influenced by endoplasmic reticulum aminopeptidase (ERAP) 1 and/or 2, often in epistasis with the susceptibility MHC-I allele. This review will focus on the four major MHC-I-associated inflammatory disorders: ankylosing spondylitis, birdshot chorioretinopathy, Behçet's disease and psoriasis. The genetics of ERAP1/ERAP2 association and the alterations induced by polymorphism of these enzymes on the risk MHC-I allotypes will be examined...
September 2016: Molecular Immunology
https://www.readbyqxmd.com/read/27489465/evaluation-of-cases-with-cerebral-thrombosis-in-children
#20
Olcay Ünver, Gazanfer Ekinci, Büşra Işın Kutlubay, Thomas Gülten, Sağer Güneş, Nilüfer Eldeş Hacıfazlıoğlu, Dilşad Türkdoğan
AIM: We aimed to evaluate the patients who were followed up in our clinic with a diagnosis of cerebral sinovenous thrombosis in terms of age, sex, clinical findings, etiology, thrombophilic factors, imaging findings, treatment and prognosis. MATERIAL AND METHODS: The files of 11 patients who were followed up in our pediatric neurology clinic with a diagnosis of cerebral thrombosis between 1 December 2010 and 31 December 2014 were retrospectively analyzed. RESULTS: Seven of 11 patients were male (63...
June 2016: Türk Pediatri Arşivi
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