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Since there is no pathognomonic clinical sign or laboratory test to distinguish Behçet disease from other uveitic entities, the diagnosis must be made based on characteristic ocular and systemic findings in the absence of evidence of other disease that can explain the findings. Ancillary tests, including ocular and brain imaging studies, are used to assess the severity of intraocular inflammation and systemic manifestations of Behçet disease, to identify latent infections and other medical conditions that might worsen with systemic treatment, and to monitor for adverse effects of drugs used. There are two diagnostic or classification criteria in general use by the uveitis community, one from Japan and one from an international group; both rely on a minimum number and/or combination of clinical findings to identify Behçet disease. Finally, several grading schemes have been proposed to assess severity of ocular disease and response to treatment. [ABSTRACT FROM AUTHOR]

Purpose: To develop an algorithm for the diagnosis of Behçet's disease (BD) uveitis based on ocular findings. Methods: Following an initial survey among uveitis experts, we collected multi-center retrospective data on 211 patients with BD uveitis and 207 patients with other uveitides, and identified ocular findings with a high diagnostic odds ratio (DOR). Subsequently, we collected multi-center prospective data on 127 patients with BD uveitis and 322 controls and developed a diagnostic algorithm using Classification and Regression Tree (CART) analysis and expert opinion. Results: We identified 10 items with DOR >5. The items that provided the highest accuracy in CART analysis included superficial retinal infiltrate, signs of occlusive retinal vasculitis, and diffuse retinal capillary leakage as well as the absence of granulomatous anterior uveitis or choroiditis in patients with vitritis. Conclusion: This study provides a diagnostic tree for BD uveitis that needs to be validated in future studies. [ABSTRACT FROM AUTHOR]

Introduction: The etiology of Behçet’s disease (BD) is unknown, but widely considered an excessive T-cell mediated inflammatory response in a genetically susceptible host. Recent genome-wide association studies (GWAS) have shown limited number of novel loci-associations. The rarity and unequal distribution of the disease prevalence amongst different ethnic backgrounds have hampered the use of GWAS in cohorts of mixed ethnicity and sufficient sample size. However, novel statistical approaches have now enabled GWAS in admixed cohorts. Methods: We ran a GWAS on 336 BD cases and 5,843 controls. The cases consisted of Western Europeans, Middle Eastern and Turkish individuals. Participants from the Generation R study, a multiethnic birth cohort in Rotterdam, The Netherlands were used as controls. All samples were genotyped and data was combined. Linear regression models were corrected for population stratification using Genomic Principal Components and Linear Mixed Modelling. Meta-analysis was performed on selected results previously published. Results: We identified SNPs associated at genome-wide significant level mapping to the 6p21.33 (HLA) region. In addition to this known signal two potential novel associations on chromosomes 6 and 18 were identified, yet with low minor allele frequencies. Extended meta-analysis reveal a GWS association with the IL12A variant rs17810546 on chromosome 3. Discussion: We demonstrate that new statistical techniques enable GWAS analyses in a limited sized cohort of mixed ethnicity. After implementation, we confirmed the central role of the HLA region in the disease and identified new regions of interest. Moreover, we validated the association of a variant in the IL2A gene by meta-analysis with previous work. These findings enhance our knowledge of genetic associations and BD, and provide further justification for pursuing collective initiatives in genetic studies given the low prevalence of this and other rare diseases. [ABSTRACT FROM AUTHOR]

Objectives. Behçet’s disease (BD) is more severe among young males and disease severity decreases with age. Therefore, the effect of disease activity, gender and age on platelet and neutrophil activation in whole blood taken from patients with BD was investigated.Methods. Using an anti-coagulant Tripotassium ethylenediaminetetra acetic acid (K3EDTA) plus citrate-theophylline-adenosine-dipyridamole (CTAD) (K3EDTA/CTAD) that preserves the degree of platelet activation that exists in vivo, we assessed neutrophil and platelet activation, microparticles, and monocyte and neutrophil–platelet aggregate formation in 43 BD patients using flow cytometry. This is the first description of platelet activation and microparticles in BD patients using this methodology.Results. Inactive [2.78 (0.56)%, P = 0.0009; 3.11 (0.78)%, P < 0.0001] and active [2.28 (0.84)%, P < 0.0001; 3.071 (0.67)%, P = 0.0031] BD patients had significantly higher percentages of CD62P-expressing platelets and CD62P+ platelet microparticles as compared with healthy controls (HCs) [0.84 (0.1)% and 1.23 (0.14)%], respectively. The percentages of CD62P+ platelets and CD62P+ platelet microparticles in female and male BD patients were also significantly higher than those expressed by female and male HCs. The percentages of CD62P+ microparticles were significantly increased in the 20–30-(P = 0.0301) and 31–50-(P < 0.0162) year age ranges, but not in the >50-year age group of BD patients.Conclusion. BD is a rare, chronic multi-systemic vasculitis and interaction of activated platelets with leucocytes has been linked to pathological disorders associated with vascular inflammation. Importantly, this study demonstrates that platelet microparticle activation is increased in BD. Also, this is the first report in which changes in platelet activation in BD are concordant with the observations that BD disease activity diminishes with age. [ABSTRACT FROM PUBLISHER]

Objectives. The initiating cause of Behçet's disease (BD) is unknown, but an aberrant response to infection has been suggested. In this study, single nucleotide polymorphisms in Toll-like receptors (TLRs) and associated molecules that have a sentinel function at mucosal surfaces were analysed in patients with BD.Methods. TLR expression was determined by immunohistochemistry in buccal mucosal tissue from patients with BD, in tissue from patients with lichen planus (LP) or pyogenic granuloma (PG) as disease controls, or from healthy individuals. Using SSP-PCR we analysed SNP in CD14, TLR2, TLR4 and TIRAP (TIR domain-containing adaptor protein) in patients with BD from different geographical regions.Results. TLR expression was increased in buccal lesions from patients with BD compared with healthy controls; however, a similar increase was seen in lesion tissue from patients with LP or PG, suggesting that this was a generalized inflammatory response as opposed to a BD-specific response. SNP analysis showed no association between CD14, TLR2 or TLR4 polymorphisms. However, TIRAP 180Leu was significantly associated with BD in UK, but not Middle Eastern, patients.Conclusion. TLR expression showed no difference in tissue from patients with BD compared with either disease or healthy controls. Likewise, SNPs in TLR genes were no different from healthy controls. The association with the increased function variant of TIRAP suggests that encounter with a pathogen at mucosal sites will lead to increased cytokine production and tissue damage with persistence of mucosal lesions. [ABSTRACT FROM PUBLISHER]

Abstract: Behçet’s disease (BD) is a multisystem inflammatory disease characterized by recurrent orogenital ulceration, ocular inflammation, and skin lesions. The etiology of the disease is currently unknown but evidence suggests that there is a strong genetic component mediating the chronicity of the disorder. We have examined the association between polymorphisms at position −1082, and −819 in the promoter region of the gene encoding IL-10 in patients with Behçet’s disease from two distinct patient populations. The IL-10 −1082AA genotype was weakly associated with BD when all patients were analyzed as a group (pc = 0.04, OR 1.4, 95% CI 1.1–1.9), but not in the UK or Middle Eastern (ME) cohorts of patients alone compared to local controls. An association with IL-10 −819T was evident in all BD patients, (pc = 0.02, OR 1.5, 95% CI 1.1–2.0), and this was because of an association in the UK but not ME patients (pc = 0.0004, OR 2.1, 95% CI 1.4–3.3). The −1082A/−819T haplotype, which is linked to low production of this cytokine, was not significantly associated with Behçet’s disease. This link between BD, a chronic, relapsing, autoinflammatory condition, and a genotype associated with low IL-10 production provides evidence that abnormalities in the genetic control of cytokine levels may be relevant in influencing the immune response in Behçet’s disease in some patient groups. [Copyright &y& Elsevier]

A letter to the editor is presented regarding a 15-year-old Caucasian boy who was diagnosed with Neuro-Behçet's disease and frosted branch angiitis (FBA).