Archives of rheumatology最新文献

Objectives: The aim of this study was to determine the epigenetic changes in interleukin-16 (IL-16) and autoimmune regulator (AIRE) genes in Behçet's disease (BD) and to investigate the relationship between these changes and the disease mechanism.

Patients and methods: Between October 2022 and January 2023, a total of 40 patients (20 males, 20 females; mean age: 37.0±11.4 years; range, 19 to 71 years) who met the 2014 International Criteria for Behçet's Disease with no concomitant diseases and who were either newly diagnosed or under follow-up and 40 age- and sex-matched healthy hospital staff as the control group (20 males, 20 females mean age: 35.1±5.7 years; range, 29 to 45 years) with no chronic diseases or active infections were included. Peripheral blood samples were obtained from all participants, and genomic deoxyribonucleic acid (DNA) was isolated. The DNA samples were modified using a bisulfite modification kit. Subsequently, the promoter methylation profiles of IL-16 and AIRE genes were determined using methylation-specific polymerase chain reaction (MSP) with primers specifically designed for methylation.

Results: In both BD and control groups, methylation was detected in the promoter region of IL-16, indicating a weak expression of the IL-16 gene. In contrast, while the promoter region of the AIRE gene was methylated in all control participants, it was unmethylated in all patients with BD.

Conclusion: This is the first study to evaluate the methylation status of both AIRE and IL-16 genes in BD. Our study results suggest that the promoter region of the AIRE gene is unmethylated in BD and that AIRE gene is activated in BD and produces autoimmune regulatory proteins that eliminate autoreactive T cells, suggesting a tendency toward autoimmunity in BD. These findings also suggest that IL-16, which is involved in the pathogenesis of many rheumatic diseases, does not play a significant role in the pathogenesis of BD.

Objectives: This study aims to investigate the role of adipokines, oxidative stress, and inflammatory markers in the pathogenesis of gout.

Patients and methods: Between September 2021 and December 2022, a total of 88 volunteers including 44 patients (37 males, 7 females; mean age: 56.5±11.6 years; range, 30 to 77 years) with gout disease and 44 age- and sex-matched healthy controls (37 males, 7 females; mean age: 54.3±12.1 years; range, 30 to 78 years) were retrospectively analyzed. Serum interleukin-10 (IL-10), tumor necrosis factor-alpha (TNF-α), irisin, resistin, total oxidant status (TOS), and total antioxidant status (TAS) levels were analyzed.

Results: The mean serum irisin levels were significantly higher in patients with gout than in the healthy controls (405.6±97.3 and 316.0±80.8 pg/mL, respectively). The mean IL-10 levels were significantly lower in patients with gout than in healthy controls (90.8±71.9 and 172.7±128.6 pg/mL, respectively). There was no statistically significant difference in the serum resistin, TNF-α, TOS, or TAS levels between the groups (p>0.05).

Conclusion: Our study results show that serum irisin and IL-10 seem to be candidate biomarkers of diagnosis of gout.

Objectives: This study aimed to examine the frequency and associated factors of extra-musculoskeletal manifestations (EMMs) and peripheral manifestations in an axial spondyloarthritis (axSpA) cohort and their impact on the choice of first biologic treatment.

Patients and methods: A total of 1,687 patients with axSpA (978 males, 709 females; mean age: 38.5±11 years) who started their first biologic disease modifying antirheumatic drug (bDMARD) were included from a national prospective database of TReasure between its inception and 2018-2021. Demographic and clinical characteristics, disease-related features, and treatment patterns were compared between patients with and without EMMs or peripheral involvement.

Results: Of the patients, 1,283 had radiographic axSpA (r-axSpA), while 404 had nonradiographic axSpA (nr-axSpA). Acute anterior uveitis (AAU) was the most common (11.4%) EMM, and older age, female sex, human leukocyte antigen B27 (HLA-B27) positivity, and a lower Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) score were associated with AAU. Female sex, methotrexate use, dactylitis, and higher Ankylosing Spondylitis Disease Activity Score (ASDAS)-serum C-reactive protein (CRP) scores were related to psoriasis (PsO). Inflammatory bowel disease (IBD) and PsO were negatively associated with HLA-B27 positivity. Enthesitis was the most frequent (28.2%) peripheral manifestations, and peripheral arthritis, dactylitis, and enthesitis were independent predictor of each other. In addition, dactylitis and peripheral arthritis were related to more frequent use of conventional disease modifying antirheumatic drugs. In addition, IBD history was associated with less frequent use of etanercept. Older age, less use of sulfasalazine, the absence of enthesitis, and lower Bath Ankylosing Spondylitis Functional Disease Index (BASFI) scores were associated with secukinumab use.

Conclusion: Acute anterior uveitis was associated with HLA-B27 positivity, while PsO or IBD were negatively associated with HLA-B27 in patients with axSpA. Peripheral manifestations appeared to be related to each other. Among EMMs, we found that only IBD had an effect on the bDMARD preference.

Behçet's syndrome is a variable vessel vasculitis characterized by a diverse range of clinical manifestations resulting from inflammation involving several organs and systems. While significant progress has been made in understanding the pathogenesis and treatment of Behçet's syndrome, challenges remain in achieving optimal disease control and preventing long-term complications. This review explores recent advances in the management of Behçet's syndrome, with a focus on emerging therapies and future directions. Apremilast, a phosphodiesterase-4 inhibitor, has shown promise in managing mucocutaneous manifestations, particularly oral ulcers. Tocilizumab, an interleukin (IL)-6 receptor inhibitor, has demonstrated efficacy in certain patient populations, especially those with ocular involvement. However, its use in vascular Behçet's syndrome requires careful consideration. Relapses of oral and genital ulcers can be challenging during tocilizumab treatment. Other emerging therapies, such as IL-17 inhibitors, including secukinumab and ixekizumab, IL-12/23 inhibitor ustekinumab, and Janus kinase (JAK) inhibitors, including tofacitinib and baricitinib, are being investigated for their potential to target specific inflammatory pathways. Future research directions include the development of novel therapeutic targets, better use of existing agents by identifying patient populations that would benefit from these, developing better instruments for disease assessment, and a treat-to-target approach in order to improve outcomes and quality of life for patients with Behçet's syndrome.

Objectives: This study aims to explore the value of ultrasonic semi-quantitative scoring in the diagnosis of seronegative rheumatoid arthritis (RA).

Patients and methods: Between January 2018 and October 2023, a total of 411 patients (241 males, 170 females; mean age: 50.9±17.5 years; range, 18 to 87 years) were included. Of these patients, 296 were diagnosed with RA (including 131 with seronegative RA [SNRA] and 165 with seropositive RA [SPRA]) and 115 with non-RA disease. Ultrasound examination was performed on all patients with suspected RA, focusing on evaluation of synovial hypertrophy (SH), power Doppler (PD) signals, and bone erosion (BE) for three to six months. The ultrasonic joint semi-quantitative score was evaluated for the sensitivity and specificity of detecting seronegative RA.

Results: The three indexes of SH, PD, and BE were not significantly different between the SNRA and SPRA groups (p=0.223, p=0.176; p=0.272, respectively). However, there were differences on the SH1, SH3, PD, and BE grades between the SNRA group and the non-RA group (p<0.001 for all); when serology was negative and when the highest scored joint met PD Grade ≥2 or BE Grade ≥2, it showed both high sensitivity (93.12%) and high specificity (91.30%) for the diagnosis of RA.

Conclusion: Ultrasound combined with semi-quantitative scoring is of promising significance in the early diagnosis of SNRA patients.

Objectives: This study aimed to determine the frequency of autoimmune diseases (ADs) accompanying common variable immunodeficiency (CVID) and evaluate clinical and immunological features, organ manifestation, and effects on malignancy and mortality.

Patients and methods: The retrospective study was conducted with 85 patients (47 males, 38 females; median age: 38 years; range, 30 to 53 years) with CVID between January 2013 and January 2023. The patients were divided into two groups according to the presence of ADs: CVID patients with ADs [AD-CVID (+) group; n=36] and CVID patients without ADs [AD-CVID (-) group; n=49]. The clinical and immunological features of the groups were compared, and the effects on organ manifestations, malignancy development, and mortality were evaluated.

Results: The diagnostic delay in the AD-CVID (+) group was 84 months and was longer than that in the AD-CVID (-) group. The most common AD was cytopenia, particularly immune thrombocytopenic purpura. Splenomegaly was the most common organ manifestation. Sjögren syndrome was the most common rheumatic disease. There was no difference between the immunoglobulin levels and lymphocyte subgroup levels, whereas the class-switched memory B cell levels were lower in the AD-CVID (+) group. While malignancy, particularly non-Hodgkin lymphoma, was more common in the AD-CVID (+) group, no difference was observed in mortality between the groups.

Conclusion: Adult CVID patients with ADs have a longer diagnostic delay. Autoimmune conditions, particularly autoimmune cytopenias and inflammatory diseases, are much more common in patients with CVID than in the general population. Therefore, physicians' awareness of autoimmune manifestations in CVID patients should be increased to prevent delays in diagnosis.

Objectives: The purpose of this study was to evaluate Eustachian tube function in patients with Behçet's disease (BD).

Patients and methods: Forty-six patients (22 males, 24 females; mean age: 42.1±11.3 years; range, 19 to 64 years) with BD and 46 (21 males, 25 females; mean age: 38.5±14.8 years; range, 19 to 63 years) age- and sex-matched audiologically healthy individuals were enrolled in this cross-sectional, case-control study between June 2023 and August 2023. Demographic and clinical characteristics of participants were recorded from electronic health records. All participants completed the Eustachian tube function test and the Eustachian tube dysfunction questionnaire 7 (ETDQ-7). Binary logistic regression analysis was employed to identify the factors that predict Eustachian tube dysfunction in patients with BD. Additionally, the association between disease duration and ETDQ-7 scores was evaluated using Spearman's rank correlation.

Results: The median ETDQ-7 scores were significantly higher in patients with BD than in controls (10 (7-32) vs. 7 (7-9); p<0.001). The number of ears with Eustachian tube dysfunction was also significantly higher in the BD group than in the controls (n=22, 47.8% vs. n=7, 15.2%; p=0.007). Regression analysis did not reveal statistically significant factors that predicted Eustachian tube dysfunction. Moreover, no statistically significant correlation was observed between Eustachian tube dysfunction and disease duration (R=-0.067; p=0.525).

Conclusion: This study showed that Eustachian tube dysfunction is more prevalent in patients with BD than in the healthy controls. However, clinical and demographic variables were not found to be associated with Eustachian tube dysfunction.