Association of mitochondrial polymorphism m.709G>A with Behcet's disease

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Genital ulcer severity score and genital health quality of life in Behçet's disease

Background: Behçet's Disease (BD) is a chronic auto-inflammatory, multisystem relapsing/remitting disorder of unknown aetiology. Oro-genital ulceration is a key feature of the disease and has a major impact on the patients' quality of life. Other clinical manifestations include ocular inflammation, rheumatologic and skin involvement, while CNS and vascular complications can lead to considerable morbidity. The availability of a valid monitoring tool for BD activity is crucial in evaluating the impact of the disease on daily life activity. The aims of this study were to validate a novel tool for monitoring genital ulceration severity in BD and to assess the impact of genital ulcers on the Genital Health Quality of Life (GHQoL). Methods: Genital Ulcer Severity Score (GUSS) was developed using six genital ulcer characteristics: number, size, duration, ulcer-free period, pain and site. A total of 207 BD patients were examined, (137 females: mean age∈±∈SD: 39.83∈±∈13.42 and 70 males: mean age∈±∈SD: 39.98∈±∈11.95) from the multidisciplinary Behçet's Centre of Excellence at Barts Health NHS Trust. GUSS was used in conjunction with Behçet's Disease Current Activity Form (BDCAF). Results: The over-all score of GUSS showed a strong correlation with all genital ulcer characteristics, and the strongest correlation was with the pain domain (r∈=∈0.936; P∈2: 0.600; P∈<∈0.0001). Conclusions: This study established the practicality of GUSS as a severity monitoring tool for BD genital ulcers and validated its use in 207 patients. Genital ulcers of BD have a considerable impact on the patients GHQoL

Gene Expression Profiling and Association Studies Implicate the Neuregulin Signaling Pathway in Behçet's Disease Susceptibility

Behçet's disease (BD) is a complex disease with genetic and environmental risk factors implicated in its etiology; however, its pathophysiology is poorly understood. To decipher BD's genetic underpinnings, we combined gene expression profiling with pathway analysis and association studies. We compared the gene expression profiles in peripheral blood mononuclear cells (PBMCs) of 15 patients and 14 matched controls using Affymetrix microarrays and found that the neuregulin signaling pathway was over-represented among the differentially expressed genes. The Epiregulin (EREG), Amphiregulin (AREG), and Neuregulin-1 (NRG1) genes of this pathway stand out as they are also among the top differentially expressed genes. Twelve haplotype tagging SNPs at the EREG-AREG locus and 15 SNPs in NRG1 found associated in at least one published BD genome-wide association study were tested for association with BD in a dataset of 976 Iranian patients and 839 controls. We found a novel association with BD for the rs6845297 SNP located downstream of EREG, and replicated three associations at NRG1 (rs4489285, rs383632, and rs1462891). Multifactor dimensionality reduction analysis indicated the existence of epistatic interactions between EREG and NRG1 variants. EREG-AREG and NRG1, which are members of the epidermal growth factor (EGF) family, seem to modulate BD susceptibility through main effects and gene–gene interactions. These association findings support a role for the EGF/ErbB signaling pathway inBD pathogenesis that warrants further investigation and highlight the importance of combining genetic and genomic approaches to dissect the genetic architecture of complex diseases

IL10 Low-Frequency Variants in Behçet's Disease Patients

To explain the missing heritability after the genome-wide association studies era, sequencing studies allow the identification of low-frequency variants with a stronger effect on disease risk. Common variants in the interleukin 10 gene (IL10) have been consistently associated with Behçet's disease (BD) and the goal of this study is to investigate the role of low-frequency IL10 variants in BD susceptibility

Correlation of clinical signs and symptoms of Behçet�s disease with mean platelet volume (MPV) and red cell distribution width (RDW)

Background: A strong correlation was previously found between mean platelet volume (MPV), red blood cell distribution width (RDW), and the severity of signs and symptoms in patients suffering from inflammatory and autoimmune diseases. The current study evaluated these correlations in patients with Behçet�s disease (BD) as well the relationship between MPV and RDW and disease activity score on the Iranian Behçet�s Disease Dynamic Activity Measurement (IBDDAM). Methods: This cross-sectional study included 319 patients with BD for whom demographic and epidemiological data, IBDDAM scores, and duration of illness was recorded. Blood samples were then obtained and the relationships between their disease status and manifestations and their laboratory parameters were evaluated with statistical models to find possible correlations. Results: Our analysis showed a significantly higher RDW in patients with BD who had ocular manifestations (p < 0.001) and oral aphthae (p = 0.004). Patients with active BD had higher RDW (p < 0.001) and MPV (p < 0.001) in comparison to those with currently inactive BD. Similarly, patients who had any type of ocular manifestation had higher RDW (p < 0.001) and MPV (p < 0.001). Regression analyses identified a statistically significant model for the effect of RDW and MPV in predicting active BD status (p < 0.001), as well as its significant relationship with active ocular manifestations (p < 0.001). Conclusion: BD was found to be associated with an increase in MPV and RDW, particularly during active phases. RDW and MPV were also found to have predictive value for screening to detect BD activity and its ocular complications. © 2020, The Author(s)

The effect of continuous ultrasound on chronic low back pain: protocol of a randomized controlled trial

<p>Abstract</p> <p>Background</p> <p>Chronic non-specific low-back pain (LBP) is one of the most common and expensive musculoskeletal disorders in industrialized countries. Similar to other countries in the world, LBP is a common health and socioeconomic problem in Iran. One of the most widely used modalities in the field of physiotherapy for treating LBP is therapeutic ultrasound. Despite its common use, there is still inconclusive evidence to support its effectiveness in this group of patients. This randomised trial will evaluate the effectiveness of continuous ultrasound in addition to exercise therapy in patients with chronic LBP.</p> <p>Methods and design</p> <p>A total of 46 patients, between the ages 18 and 65 years old who have had LBP for more than three months will be recruited from university hospitals. Participants will be randomized to receive continuous ultrasound plus exercise therapy or placebo ultrasound plus exercise therapy. These groups will be treated for 10 sessions during a period of 4 weeks. Primary outcome measures will be functional disability and pain intensity. Lumbar flexion and extension range of motion, as well as changes in electromyography muscle fatigue indices, will be measured as secondary outcomes. All outcome measures will be measured at baseline, after completion of the treatment sessions, and after one month.</p> <p>Discussion</p> <p>The results of this trial will help to provide some evidence regarding the use of continuous ultrasound in chronic LBP patients. This should lead to a more evidence-based approach to clinical decision making regarding the use of ultrasound for LBP.</p> <p>Trial registration</p> <p>Netherlands Trial Register (NTR): <a href="http://www.trialregister.nl/trialreg/admin/rctview.asp?TC=2251">NTR2251</a></p

International cohort study for pediatric Behçet’s Disease: update 2011

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Translation and validation study of the Persian version of the Arthritis Impact Measurement Scales 2 (AIMS2) in patients with osteoarthritis of the knee

Background: The Arthritis Impact Measurement Scales 2 (AIMS2) has not been translated and validated for Persian-speaking patients with osteoarthritis of the knee. This was to provide a validated instrument to measure functional disability and health-related quality of life in patients with osteoarthritis of the knee in Iran. The aim of this study was to culturally adapt and validate the AIMS2 for Persian-speaking patients with osteoarthritis of the knee in Iran. Methods: A consecutive sample of patients with knee osteoarthritis were asked to complete the AIMS2, the Short Form Health Survey (SF-36) and four visual analog scales for pain, joint stiffness, patient's and physician's global assessment. Internal consistency and convergent validity were applied to examine psychometric properties of the AIMS2. In addition, 30 randomly selected patients were asked to complete the questionnaire two days later for the second time for test-retest reliability. Finally factor structure of the Persian AIMS2 was performed using the principal component factor analysis. Results: In all 230 patients were entered into the study. The mean (SD) age of the participants was 56.9 (8.7) years and the mean (SD) duration of disease was 7.2 (3.5) years. Cronbach's alpha coefficient and intraclass correlation coefficient (ICC) for the Persian AIMS2 scales ranged from 0.74 to 0.92 and 0.85 to 0.96, respectively. The correlation between most of the Persian AIMS2 scales and the physical and mental summary scores of the SF-36 and the visual analogue scales for pain, joint stiffness, patient's and physician's global assessment were statistically significant indicating a good convergent validity (p < 0.05). The results obtained from factor analysis indicated three latent factors that jointly accounted for 67.5% of the total variance. Conclusion: The results showed that the Persian AIMS2 had reasonably good internal consistency, test-retest reliability, and convergent validity in patients with osteoarthritis of the knee. It is simple and easy to use and now can be applied in the future studies in Iran. However, its sensitivity to change needs still to be studied.We wish to express our gratitude to physicians who co-operated in the selection of the patients and patients who gave their time to complete the questionnaires. This research was supported by Sport Medicine Research Center (SMRC), Tehran University of Medical Sciences; grant No 85-01-53-3579

Health-care access and utilization among individuals with low back pain in Iran: a WHO-ILAR COPCORD study

Background: Low back pain (LBP) is a major contributor to chronic pain and disability. The purpose of this study was to evaluate health-care access and utilization among patients with LBP in Iran. We also sought to study the pattern and characteristics of care-utilization behavior in these patients. Methods: Data from the Community Oriented Program for Control of Rheumatic Diseases (COPCORD) were used for this study. Three cities (Zahedan, Sanandaj, Yazd) were selected to represent the Iranian population, with different socioeconomic status and ethnic, cultural, and religious background. Demographic data, acute or chronic LBP, disability index, and utilizing care from conventional medicine (CM), allied health providers (AHP), and complementary and alternative medicine (CAM) providers were recorded. Results: Of 9101 patients, 38.6 reported LBP. Only 3.3 did not utilize care of any kind, 66.7 referred to CM providers, 20.8 to AHP, and 9.2 to CAM care. Health-care utilization was higher in female patients, older age, higher education, and higher disability index. Conclusions: The findings of this study indicate a high rate of health-care utilization among patients with LBP in Iran. CM is the most prevalent health-care resource sought by patients. These findings could be used as a framework in developing more efficient health-care programs according to the needs of specific populations. © 2020 The Author(s)