Journal of Rheumatic Diseases最新文献

筛选
英文 中文
Genetic and epigenetic insights into systemic lupus erythematosus: linking long non-coding RNA growth arrest-specific transcript 5 and interferon signature. 系统性红斑狼疮的遗传和表观遗传学研究:连接长链非编码RNA生长抑制特异性转录物5和干扰素信号。
IF 3
Journal of Rheumatic Diseases Pub Date : 2026-01-01 Epub Date: 2025-07-22 DOI: 10.4078/jrd.2025.0074
Gehad Gamal Maghraby, Manal Abdel-Moneim El-Menyawi, Hanan A Abdel Rehiem, Olfat Gamil Shaker, Mina M Habib, Rasmia Elgohary
{"title":"Genetic and epigenetic insights into systemic lupus erythematosus: linking long non-coding RNA growth arrest-specific transcript 5 and interferon signature.","authors":"Gehad Gamal Maghraby, Manal Abdel-Moneim El-Menyawi, Hanan A Abdel Rehiem, Olfat Gamil Shaker, Mina M Habib, Rasmia Elgohary","doi":"10.4078/jrd.2025.0074","DOIUrl":"10.4078/jrd.2025.0074","url":null,"abstract":"<p><strong>Objective: </strong>Interferon (IFN) signaling, and excessive apoptosis have a well-established role in systemic lupus erythematosus (SLE) pathogenesis. Long non-coding RNA (lncRNA) growth arrest-specific transcript 5 (GAS5) has been linked to excessive apoptosis and upregulation of IFN genes. We aimed to investigate the expression of IFN-stimulated genes in SLE patients compared to healthy controls, and to assess their association with lncRNA GAS5 and clinical characteristics of SLE.</p><p><strong>Methods: </strong>The study included 30 SLE patients and 20 controls. IFN-stimulatory genes (interferon-induced protein 44-like [IFI44L] gene, MX dynamin like GTPase 1 [MX1], IFN-induced protein with tetratricopeptide repeats 1 [IFIT1]) and GAS5 expression levels in plasma were estimated by quantitative real-time polymerase chain reaction. IFN signature score was calculated.</p><p><strong>Results: </strong>IFIT1 gene expression and IFN signature score were significantly higher in SLE patients compared to controls (p<0.001, p<0.001, respectively). LncRNA GAS5 positively correlated with IFIT1 expression (p<0.001) and IFN signature score (p=0.005). No significant associations were found between IFN gene expression or IFN signature score and disease activity (Systemic Lupus Erythematosus Disease Activity Index 2000, SLEDAI-2K) or organ damage (Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index, SDI). IFI44L expression was significantly higher in SLE patients with secondary antiphospholipid syndrome (p=0.040).</p><p><strong>Conclusion: </strong>IFN signature is a potential biomarker for SLE diagnosis, but it can't be relied on for the assessment of activity or damage. The correlation between lncRNA GAS5 and IFN-related gene expression suggests a possible role for GAS5 in the IFN pathway in SLE.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":"33 1","pages":"55-64"},"PeriodicalIF":3.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12706433/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145776623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Current and future treatment of rheumatoid arthritis. 类风湿关节炎的当前和未来治疗。
IF 3
Journal of Rheumatic Diseases Pub Date : 2026-01-01 Epub Date: 2025-10-21 DOI: 10.4078/jrd.2025.0034
Jin Kyun Park, Byeongzu Ghang, Seung Woo Han, Ji Hyeon Ju
{"title":"Current and future treatment of rheumatoid arthritis.","authors":"Jin Kyun Park, Byeongzu Ghang, Seung Woo Han, Ji Hyeon Ju","doi":"10.4078/jrd.2025.0034","DOIUrl":"10.4078/jrd.2025.0034","url":null,"abstract":"<p><p>Rheumatoid arthritis (RA) is a chronic, systemic autoimmune disease primarily targeting the joints, leading to progressive inflammation, joint damage, and functional impairment. The pathogenesis of RA involves a complex interplay of genetic predisposition and environmental factors, such as smoking, which together drive the dysregulated activation of both the innate and adaptive immune systems. The introduction of disease-modifying antirheumatic drugs marked a pivotal advancement in RA management, transforming the disease from a debilitating chronic condition into a treatable disorder. Ongoing progress in basic and clinical research has identified novel therapeutic targets, paving the way for precision medicine tailored to individual patient needs, with the ultimate goal of achieving long-term remission. This review outlines current treatment options and summarizes key treatment guidelines established by major rheumatology societies. Additionally, it highlights emerging therapies, including selective glucocorticoid receptor modulators, and Bruton's tyrosine kinase inhibitors, and epigenetic modulators. Finally, novel cell-based therapies, such as chimeric antigen receptor T cells and T cell engagers, which hold the potential to enable durable, drug-free remission. These current and emerging treatments will help further optimize RA management and improve patient outcomes.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":"33 1","pages":"7-18"},"PeriodicalIF":3.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12706429/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145776653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cytomegalovirus retinitis during upadacitinib monotherapy for rheumatoid arthritis: a case report. 类风湿性关节炎升级他替尼单药治疗期间巨细胞病毒视网膜炎1例报告。
IF 3
Journal of Rheumatic Diseases Pub Date : 2026-01-01 Epub Date: 2025-04-03 DOI: 10.4078/jrd.2025.0019
Sang Jun Park, Yun Jong Lee
{"title":"Cytomegalovirus retinitis during upadacitinib monotherapy for rheumatoid arthritis: a case report.","authors":"Sang Jun Park, Yun Jong Lee","doi":"10.4078/jrd.2025.0019","DOIUrl":"10.4078/jrd.2025.0019","url":null,"abstract":"<p><p>Janus kinase inhibitors (JAKis) are associated with increased risk of Varicella-Zoster Virus reactivation, particularly in Asian populations. While reactivation of cytomegalovirus (CMV) is very rare in rheumatoid arthritis (RA) patients on JAKis, CMV retinitis (CMVR) is a sight-threatening infection primarily observed in immunocompromised individuals. We report the first Korean case of CMVR in a 75-year-old male with RA when taking upadacitinib. Upadacitinib was initiated due to refractory disease despite anti-tumor necrosis factor therapy, and methotrexate was tapered out over 3 months. During upadacitinib monotherapy, he developed subacute blurred vision in his right eye. Ophthalmologic examination showed mixed features suspicious of acute retinal necrosis and CMVR. CMVR was ultimately diagnosed through polymerase chain reaction testing of aqueous humor for CMV. Treatment with intravitreal ganciclovir alone led to the resolution of symptoms without major complications. A literature review identified seven reported cases of CMVR in RA patients, mostly in those treated with biologics or JAKis, with advanced age emerging as a key risk factor. Given the increasing use of JAKis, clinicians should maintain a high index of suspicion for CMVR in elderly RA patients taking JAKis when presenting with acute or subacute ocular symptoms.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":"33 1","pages":"65-69"},"PeriodicalIF":3.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12706431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145776640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Short- and long-term sustained remission and the role of joint accumulation in early and very early rheumatoid arthritis: a real-world perspective. 短期和长期持续缓解和关节积累在早期和非常早期类风湿关节炎中的作用:现实世界的观点。
IF 3
Journal of Rheumatic Diseases Pub Date : 2026-01-01 Epub Date: 2025-05-30 DOI: 10.4078/jrd.2025.0055
Kevin Maldonado-Cañón, Natalia Prieto, Paul Méndez-Patarroyo, Wilson Bautista-Molano, Paola Coral-Alvarado, Gerardo Quintana-López
{"title":"Short- and long-term sustained remission and the role of joint accumulation in early and very early rheumatoid arthritis: a real-world perspective.","authors":"Kevin Maldonado-Cañón, Natalia Prieto, Paul Méndez-Patarroyo, Wilson Bautista-Molano, Paola Coral-Alvarado, Gerardo Quintana-López","doi":"10.4078/jrd.2025.0055","DOIUrl":"10.4078/jrd.2025.0055","url":null,"abstract":"<p><strong>Objective: </strong>We aimed to identify predictors of short- and long-term sustained remission in early rheumatoid arthritis (eRA) and very early rheumatoid arthritis (veRA), and to assess their relevance within the joint accumulation model paradigm.</p><p><strong>Methods: </strong>This retrospective real-world cohort study included adult Colombian RA patients. Based on symptom onset, patients were classified as eRA (≤12 months) or veRA (≤3 months). Sustained remission was defined using Clinical Disease Activity Index (CDAI) thresholds maintained for ≥6 months (short-term) and ≥24 months (long-term). Predictors were identified using robust Poisson regression.</p><p><strong>Results: </strong>In eRA, short-term remission was more likely in antinuclear antibodies (ANA)-positive patients (risk ratio [RR] 3.29, 95% confidence intervals [CI] 1.38~7.83) and less likely in those with higher baseline Health Assessment Questionnaire (HAQ) (RR 0.48, 95% CI 0.29~0.78). Long-term remission was more frequent in males (RR 2.67, 95% CI 1.11~6.46) and in patients with lower baseline Simple Disease Activity Index (SDAI) (RR 0.92, 95% CI 0.85~0.99). In veRA, short-term remission was negatively associated with anti-citrullinated protein antibodies (ACPA) (RR 0.74, 95% CI 0.58~0.93), swollen joint count (RR 0.52, 95% CI 0.27~1.00), and patient global assessment (RR 0.61, 95% CI 0.40~0.93). Long-term remission was associated with higher rheumatoid factor levels (RR 1.76, 95% CI 1.20~2.56), lower tender joint counts (RR 0.71, 95% CI 0.55~0.92), and slower joint accumulation rates (RR 0.51, 95% CI 0.29~0.90). These findings were consistent among disease-modifying anti-rheumatic drug (DMARD)-naïve patients.</p><p><strong>Conclusion: </strong>Distinct predictors of remission in eRA and veRA underscore the need for stage-specific treatment strategies. Our findings provide real-world evidence supporting the joint accumulation model and highlight the potential to optimize outcomes through tailored time-sensitive interventions.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":"33 1","pages":"25-36"},"PeriodicalIF":3.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12706432/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145776605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Defining early axial spondyloarthritis: insights and applications of the Assessment of Spondyloarthritis International Society international consensus. 定义早期轴型脊柱炎:国际社会国际共识评估脊柱炎的见解和应用。
IF 3
Journal of Rheumatic Diseases Pub Date : 2026-01-01 Epub Date: 2025-08-19 DOI: 10.4078/jrd.2025.0077
Tae-Jong Kim, Sofia Ramiro
{"title":"Defining early axial spondyloarthritis: insights and applications of the Assessment of Spondyloarthritis International Society international consensus.","authors":"Tae-Jong Kim, Sofia Ramiro","doi":"10.4078/jrd.2025.0077","DOIUrl":"10.4078/jrd.2025.0077","url":null,"abstract":"<p><p>Axial spondyloarthritis (axSpA) is a chronic inflammatory disease with variable clinical presentation and often delayed diagnosis. The Assessment of Spondyloarthritis International Society (ASAS) recently proposed a consensus definition of early axSpA to standardize research and improve comparability across studies. This review outlines the rationale and methodology of the ASAS-SPEAR (SPondyloarthritis EARly) initiative and discusses its implications for clinical research. Despite its promise, recent studies applying the definition have shown that treatment outcomes in early axSpA, defined as ≤2 years of symptom duration, do not consistently differ from established disease. Methodological limitations and heterogeneous criteria in earlier literature underscore the need for refined, evidence-based definitions. Future prospective trials using the ASAS criteria and stratified by symptom duration and clinical features are needed to clarify the value of early intervention and its potential impact on disease progression. The ASAS definition offers a valuable research framework, though its application in clinical practice awaits further validation.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":"33 1","pages":"19-24"},"PeriodicalIF":3.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12706436/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145776612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Surgical treatment of rheumatoid arthritis of the elbow. 肘部类风湿性关节炎的外科治疗。
IF 3
Journal of Rheumatic Diseases Pub Date : 2025-10-01 Epub Date: 2025-08-27 DOI: 10.4078/jrd.2024.0083
Wan Kee Hong, Joong Mo Ahn, Hyun Sik Gong
{"title":"Surgical treatment of rheumatoid arthritis of the elbow.","authors":"Wan Kee Hong, Joong Mo Ahn, Hyun Sik Gong","doi":"10.4078/jrd.2024.0083","DOIUrl":"10.4078/jrd.2024.0083","url":null,"abstract":"<p><p>Rheumatoid arthritis (RA) is a chronic inflammatory condition that significantly impacts multiple joints, including the elbow, crucial for daily activities. Despite advancements in medical treatments like disease-modifying antirheumatic drugs that delay disease progression, surgical interventions are often necessary to improve the quality of life in RA patients. This review provides a comprehensive evaluation of the elbow, focusing on history taking, physical examination, and radiographic assessments, particularly magnetic resonance imaging findings. We detail the selection and counseling of patients, as well as various surgical options tailored to specific symptoms of RA elbow, including synovectomy for persistent pain due to synovitis, capsulotomy and osteophytectomy for limited range of motion, cubital tunnel release for ulnar neuropathy, and joint replacement or interposition arthroplasty for advanced joint destruction. Additionally, we emphasize the differentiation between RA flare and septic elbow, highlighting the importance of timely and accurate diagnosis. The review underscores the necessity of a multidisciplinary approach, integrating surgical and medical strategies to manage RA elbow effectively.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":"32 4","pages":"232-240"},"PeriodicalIF":3.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12455034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145139514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association between serum urate, gout and chronic kidney disease: a scoping review of systematic reviews and meta-analyses. 血清尿酸、痛风和慢性肾脏疾病之间的关系:系统评价和荟萃分析的范围综述。
IF 3
Journal of Rheumatic Diseases Pub Date : 2025-10-01 Epub Date: 2025-05-16 DOI: 10.4078/jrd.2024.0121
Yoon-Jeong Oh, Jung-Min Shin, Jin-Wuk Hur, Chang-Nam Son
{"title":"Association between serum urate, gout and chronic kidney disease: a scoping review of systematic reviews and meta-analyses.","authors":"Yoon-Jeong Oh, Jung-Min Shin, Jin-Wuk Hur, Chang-Nam Son","doi":"10.4078/jrd.2024.0121","DOIUrl":"10.4078/jrd.2024.0121","url":null,"abstract":"<p><p>Hyperuricemia is highly prevalent in patients with chronic kidney disease (CKD) due to reduced renal urate clearance, which leads to an increased incidence of gout in this population. Additionally, hyperuricemia may be associated with the progression of CKD. Hyperuricemia, gout, and CKD are closely interconnected; however, high-quality evidence to guide the management of hyperuricemia and gout in CKD patients remains insufficient. This literature review aimed to describe the association between hyperuricemia, gout, and CKD. This study reviewed 26 meta-analyses on the relationship between gout, serum urate levels, and CKD and was performed following the recommendations of the Preferred Reporting Items for Systematic Reviews and Meta-Analysis statement and guidelines. This study demonstrated that the hyperuricemia and gout is associated with high risk of incident CKD. In addition, hyperuricemia is a significant risk factor for CKD progression. However, the renoprotective effects of different types of urate lowering therapy showed inconsistent results. These review findings may contribute to the improvement of the management of CKD patients with hyperuricemia or gout.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":"32 4","pages":"241-251"},"PeriodicalIF":3.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12455028/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145139598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The diagnostic value of ultrasonographic vein wall thickness measurement in patients with Behçet's disease. 超声测量静脉壁厚对behaperet病的诊断价值。
IF 3
Journal of Rheumatic Diseases Pub Date : 2025-10-01 Epub Date: 2025-07-10 DOI: 10.4078/jrd.2025.0016
Naglaa Afifi, Kareem Ahmed Abdelaziz Sabry, Dalia Salah Saif, Rasha Mohamed Hassan, Rahma Ahmed Elziaty
{"title":"The diagnostic value of ultrasonographic vein wall thickness measurement in patients with Behçet's disease.","authors":"Naglaa Afifi, Kareem Ahmed Abdelaziz Sabry, Dalia Salah Saif, Rasha Mohamed Hassan, Rahma Ahmed Elziaty","doi":"10.4078/jrd.2025.0016","DOIUrl":"10.4078/jrd.2025.0016","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the diagnostic utility of vein wall thickness (VWT) measurement in the lower limb (LL) veins in Behçet's disease (BD) compared to controls and antiphospholipid syndrome (APLS) patients.</p><p><strong>Methods: </strong>A case control study was performed on 60 patients with BD and APLS, and 20 healthy volunteers matched in age and sex. All were subjected to demographic data recording, history taking, general and local examinations, Behçet's disease Current Activity Form to assess the disease activity, as well as measurement of VWT of LL veins by Doppler ultrasound (US).</p><p><strong>Results: </strong>There were significant differences between the two patient groups and controls regarding the LL VWT that was higher in patients compared to controls, with insignificant differences between APLS and BD patient groups, and between BD subgroups regarding the VWT. The highest diagnostic accuracy of VWT measured by the US in the prediction of BD occurrence in patients against healthy controls was that of right femoral (0.906), at a cut-off point of 0.42, with specificity (100%) and sensitivity of 73% with 95% confidence interval (0.834~0.979, p<0.001).</p><p><strong>Conclusion: </strong>VWT measurement by Doppler US may be an easy, rapid, and low cost diagnostic procedure for BD diagnosis at specific and sensitive cut-off points. We recommend that it be taken into consideration as a sensitive and accurate tool for the diagnosis of BD in suspected cases and among those with incomplete criteria of diagnosis.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":"32 4","pages":"283-291"},"PeriodicalIF":3.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12455032/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145139541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of pathogenic MEFV variants in Korean patients with familial Mediterranean fever via whole-genome sequencing: a case report. 通过全基因组测序鉴定韩国家族性地中海热患者的MEFV致病性变异:一个病例报告。
IF 3
Journal of Rheumatic Diseases Pub Date : 2025-10-01 Epub Date: 2025-05-21 DOI: 10.4078/jrd.2025.0001
Se Rim Choi, Christopher J Yoon, Jeong Seok Lee, Young Seok Ju, Eun Young Lee
{"title":"Identification of pathogenic <i>MEFV</i> variants in Korean patients with familial Mediterranean fever via whole-genome sequencing: a case report.","authors":"Se Rim Choi, Christopher J Yoon, Jeong Seok Lee, Young Seok Ju, Eun Young Lee","doi":"10.4078/jrd.2025.0001","DOIUrl":"10.4078/jrd.2025.0001","url":null,"abstract":"<p><p>Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent episodes of fever, serositis, and arthritis. It is caused by variants in the <i>MEFV</i> gene, which encodes the pyrin protein. FMF primarily affects individuals of Mediterranean and Middle Eastern descent, and six cases have been reported in the Korean population to date. However, the pathogenicity of the <i>MEFV</i> gene variants identified in previous Korean cases remains uncertain. Here, we report two cases of Korean patients with FMF, confirmed to have pathogenic variants in the <i>MEFV</i> gene through whole-genome sequencing. A 43- and 42-year-old male presented with intermittent fever, abdominal pain, and chest pain, which began in their teenage years. Whole-genome sequencing revealed the M694I and R761H variants in exon 10 of the <i>MEFV</i> gene in each patient, both recognized as pathogenic for FMF. Following the genetic confirmation of FMF, both patients were treated with colchicine. To our knowledge, this is the first report of Korean FMF cases with confirmed pathogenic variants in the <i>MEFV</i> gene.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":"32 4","pages":"292-297"},"PeriodicalIF":3.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12455027/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145139551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rheumatoid factor and anti-cyclic citrullinated peptide antibody levels decline in rheumatoid arthritis patients treated with Janus kinase inhibitors or biological disease-modifying anti-rheumatic drugs. 类风湿因子和抗环瓜氨酸肽抗体水平在使用Janus激酶抑制剂或生物疾病改善抗风湿药治疗的类风湿关节炎患者中下降。
IF 3
Journal of Rheumatic Diseases Pub Date : 2025-10-01 Epub Date: 2025-05-29 DOI: 10.4078/jrd.2025.0039
Bo Young Kim, Ji-Won Kim, Hwajeong Lee, Sung-Hoon Park, Seong-Kyu Kim, Jung-Yoon Choe
{"title":"Rheumatoid factor and anti-cyclic citrullinated peptide antibody levels decline in rheumatoid arthritis patients treated with Janus kinase inhibitors or biological disease-modifying anti-rheumatic drugs.","authors":"Bo Young Kim, Ji-Won Kim, Hwajeong Lee, Sung-Hoon Park, Seong-Kyu Kim, Jung-Yoon Choe","doi":"10.4078/jrd.2025.0039","DOIUrl":"10.4078/jrd.2025.0039","url":null,"abstract":"<p><strong>Objective: </strong>We aimed to investigate the rate of decline in serum anti-cyclic citrullinated peptide antibody (ACPA) and rheumatoid factor (RF) levels in rheumatoid arthritis (RA) patients treated with Janus kinase inhibitors (JAKis) compared with biological disease-modifying anti-rheumatic drugs (bDMARDs) and examine factors associated with this decline.</p><p><strong>Methods: </strong>Patients with RA who had data on ACPA and RF levels before and after JAKis or bDMARDs treatment were included in this single-center retrospective study. A reduction in ACPA and RF levels of ≥20% was defined as a decline.</p><p><strong>Results: </strong>In total, 201 patients (mean age 53 years; 10% males) were identified. After a mean 4 years of treatment with JAKis, tumor necrosis factor inhibitors, abatacept, or tocilizumab, 43.8%, 37.5%, 14.1%, and 4.7% patients experienced ACPA decline, respectively, and 41.2%, 31.4%, 16.7%, and 10.8% experienced RF decline. The use of JAKis was not associated with a decline in ACPA and RF compared with bDMARDs. However, lower baseline ACPA level (adjusted odds ratio [aOR] 0.97, 95% confidence interval [CI] 0.95~0.99), treatment responders (aOR 2.44, 95% CI 1.23~4.87), and use of prednisone equivalent ≥7.5 mg (aOR 3.24, 95% CI 1.42~7.37) were associated with ACPA decline. Furthermore, higher baseline RF level (aOR 1.03, 95% CI 1.00~1.06) and treatment responders (aOR 3.73, 95% CI 2.01~6.93) were associated with RF decline.</p><p><strong>Conclusion: </strong>There was no significant difference in ACPA and RF decline between groups receiving either JAKis or bDMARDs. Baseline autoantibody levels and treatment response are correlated with ACPA and RF decline after JAKis or bDMARDs administration in RA.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":"32 4","pages":"252-263"},"PeriodicalIF":3.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12455031/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145139595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信
小红书