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Sacroiliac and spine imaging in spondyloarthritis: Does phenotype or sex matter? 脊柱关节炎的骶髂关节和脊柱成像:表型或性别重要吗?
IF 2.3 4区 医学 Q3 RHEUMATOLOGY Pub Date : 2024-09-10 DOI: 10.1186/s42358-024-00411-w
Gabriel Caetano Pereira, Natalia Pereira Machado, André Francisco Gomes, Rodrigo Luppino Assad, Fabio Henrique Carneiro, Valderílio Feijó Azevedo
Spondyloarthritis (SpA) encompasses a spectrum of immune-mediated inflammatory conditions primarily affecting the axial skeleton, including sacroiliitis and spondylitis, each with distinct features. This study aimed to investigate imaging disparities, focusing on sacroiliac magnetic resonance and spine radiography, across phenotypes and between males and females in axial SpA. A cross-sectional study was conducted to assess clinical data, laboratory findings, magnetic resonance imaging (MRI) scores of sacroiliac joints using the Spondyloarthritis Research Consortium of Canada (SPARCC) and Sacroiliac Joint Structural Score (SSS), and cervical and lumbar spine radiographs utilizing the Modified Stoke Ankylosing Spondylitis Spine Score (mSASSS). The study aimed to compare these parameters between two groups: axial spondyloarthritis (axSpA, radiographic and non-radiographic) and axial psoriatic arthritis (axPsA), as well as between males and females. Ninety-four patients were included, with 62 patients in the axSpA group and 32 patients in the axPsA group. There were no differences in disease activity, mobility, radiographic damage in the spine (Modified Stoke Ankylosing Spondylitis Spine Score– mSASSS), or sacroiliac magnetic resonance imaging (MRI) scores (Spondyloarthritis Research Consortium of Canada Magnetic Resonance Imaging Index - SPARCC and Sacroiliac Joint Structural Score - SSS) between the two phenotypes. Regarding sex, in imaging exams, men had higher mSASSS (p = 0.008), SSS (p = 0.001), and fat metaplasia (MG) score based on SSS (p = 0.001), while women had significantly higher SPARCC scores (p = 0.039). In the male group, the presence of HLA-B27 allele had an impact on more structural lesions on MRI (SSS), p = 0.013. In this study, imaging of sacroiliac joints and spine in patients with axial SpA did not show differences in phenotypes but did reveal differences based on sex, which may have an impact on future diagnostic recommendations. Further studies are needed to confirm these findings.
脊柱关节炎(Spondyloarthritis,SPA)包括一系列免疫介导的炎症,主要影响轴性骨骼,其中包括骶髂关节炎和脊柱炎,这两种炎症各有特点。本研究旨在调查不同表型以及男性和女性轴性SpA患者的成像差异,重点是骶髂磁共振和脊柱放射摄影。研究人员进行了一项横断面研究,评估临床数据、实验室检查结果、使用加拿大脊柱关节炎研究联合会(SPARCC)和骶髂关节结构评分(SSS)对骶髂关节进行的磁共振成像(MRI)评分,以及使用改良斯托克强直性脊柱炎脊柱评分(mSASSS)进行的颈椎和腰椎X光片检查。研究旨在比较两组患者的这些参数:轴性脊柱关节炎(axSpA,放射和非放射)和轴性银屑病关节炎(axPsA),以及男性和女性患者的这些参数。该研究共纳入了 94 名患者,其中 AxSpA 组 62 人,axPsA 组 32 人。两种表型的患者在疾病活动度、活动能力、脊柱放射损伤(改良斯托克强直性脊柱炎脊柱评分- mSASSS)或骶髂磁共振成像(MRI)评分(加拿大脊柱关节炎研究联盟磁共振成像指数- SPARCC 和骶髂关节结构评分- SSS)方面没有差异。就性别而言,在影像学检查中,男性的mSASSS(p = 0.008)、SSS(p = 0.001)和基于SSS的脂肪变性(MG)评分更高(p = 0.001),而女性的SPARCC评分明显更高(p = 0.039)。在男性组中,HLA-B27 等位基因的存在对 MRI(SSS)上更多的结构性病变有影响,p = 0.013。在这项研究中,轴性SpA患者的骶髂关节和脊柱成像并未显示出表型上的差异,但却显示出了性别上的差异,这可能会对未来的诊断建议产生影响。还需要进一步的研究来证实这些发现。
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引用次数: 0
Progranulin mediates the onset of pristane induced systemic lupus erythematosus Progranulin 介导了普利斯坦诱导的系统性红斑狼疮的发病
IF 2.3 4区 医学 Q3 RHEUMATOLOGY Pub Date : 2024-09-09 DOI: 10.1186/s42358-024-00405-8
Michun He, Aubryanna Hettinghouse, Yufei Bi, Yuehong Chen, Chuanju Liu
Progranulin (PGRN) is a growth factor-like molecule with diverse roles in homeostatic and pathogenic processes including the control of immune and inflammatory responses. Pathogenic inflammation is a hallmark of systemic lupus erythematosus (SLE) and elevated serum levels of PGRN has been evaluated as a biomarker of disease activity in SLE. However, the role of PGRN in SLE has not been fully investigated. This study is aimed to determine the potential involvements of PGRN in SLE. Wild type (WT) and PGRN knockout (PGRN-/-) C57BL/6 mice received intraperitoneal injection of pristane for induction of a murine model of SLE. Sera were collected every biweekly and levels of anti-dsDNA antibody, IgG, and inflammatory factors were measured. Mice were sacrificed 5 months later and the renal lesions, as well as the proportions of T cell subtypes in the spleen were analyzed. Following exposure to pristane, PGRN-/- mice generated significantly lower levels of anti-dsDNA antibody and IgG relative to WT mice. PGRN-/- mouse kidneys had less IgG and collagen deposition compared with WT mice after pristane injection. The results indicate that PGRN participates in inflammatory response and renal damage in pristane induced SLE models, suggesting that PGRN mediates the onset of SLE.
Progranulin(PGRN)是一种生长因子样分子,在体内平衡和致病过程中具有多种作用,包括控制免疫和炎症反应。致病性炎症是系统性红斑狼疮(SLE)的特征之一,血清中 PGRN 水平的升高已被评估为系统性红斑狼疮疾病活动的生物标志物。然而,PGRN 在系统性红斑狼疮中的作用尚未得到充分研究。本研究旨在确定 PGRN 在系统性红斑狼疮中的潜在作用。野生型(WT)和PGRN基因敲除(PGRN-/-)C57BL/6小鼠腹腔注射普利斯坦,诱导建立小鼠系统性红斑狼疮模型。每两周收集一次血清,测定抗dsDNA抗体、IgG和炎症因子的水平。5 个月后小鼠被处死,并对肾脏病变和脾脏中 T 细胞亚型的比例进行分析。与WT小鼠相比,暴露于普利斯坦后,PGRN-/-小鼠产生的抗dsDNA抗体和IgG水平明显较低。与WT小鼠相比,PGRN-/-小鼠肾脏在注射普利斯坦后的IgG和胶原沉积较少。结果表明,PGRN 参与了普利斯坦诱导的系统性红斑狼疮模型的炎症反应和肾损伤,这表明 PGRN 介导了系统性红斑狼疮的发病。
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引用次数: 0
Effect of fatigue on quality of life in patients with rheumatoid arthritis: the chain mediating role of resilience and self-efficacy 疲劳对类风湿关节炎患者生活质量的影响:复原力和自我效能的连锁中介作用
IF 2.3 4区 医学 Q3 RHEUMATOLOGY Pub Date : 2024-09-09 DOI: 10.1186/s42358-024-00410-x
Jian Zhou, Xinxin Fan, Yuqin Gan, Zongting Luo, Hong Qi, Yuqiong Cao
Exploring the effect of resilience and self-efficacy in mediating the chain between fatigue and quality of life(QOL) in patients with rheumatoid arthritis (RA). From June 2022 to November 2022, 423 RA patients were chosen by a convenience sample method from two tertiary care facilities in Chengdu, Sichuan Province. General Information Questionnaire, Bristol Multidimensional Scale of Fatigue in Patients with Rheumatoid Arthritis, SF−12 Health Survey Short Form, Chinese version of the ten-item psychological Resilience Scale, and Chinese-language Arthritis Self-Efficacy Scale, an 8-element version, were among the questionnaires used. In the physical component summary( PCS), self-efficacy, psychological resilience, and self-efficacy were all significantly mediated by fatigue (total effect mediated 8.88%). In the mental component summary (MCS), fatigue (total effect mediated 10.79%), self-efficacy (total effect mediated 8.99%), psychological resilience, and self-efficacy (total effect mediated 2.01%) were all significantly mediated by fatigue. Fatigue in RA patients can affect the quality of life both directly and indirectly through the mediating effects of psychological resilience, self-efficacy, and the chain mediating effect of psychological resilience-self-efficacy.
探讨抗逆力和自我效能感对类风湿关节炎(RA)患者疲劳与生活质量(QOL)之间关系的中介作用。自2022年6月至2022年11月,以方便抽样法从四川省成都市两家三级医疗机构选取了423名RA患者。使用的问卷包括一般信息问卷、布里斯托尔类风湿关节炎患者疲劳多维量表、SF-12健康调查简表、中文版十项心理弹性量表和中文版关节炎自我效能量表(8要素版)。在身体成分总表(PCS)中,自我效能感、心理复原力和自我效能感都受到疲劳的显著影响(总影响为 8.88%)。在心理成分汇总(MCS)中,疲劳(总中介效应为 10.79%)、自我效能感(总中介效应为 8.99%)、心理复原力和自我效能感(总中介效应为 2.01%)均受到疲劳的显著中介。通过心理复原力、自我效能感的中介效应以及心理复原力-自我效能感的连锁中介效应,RA 患者的疲劳可直接或间接影响其生活质量。
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引用次数: 0
Determining the accuracy of the leukocyte esterase reagent strip test in the rapid diagnosis of adult septic arthritis. 确定白细胞酯酶试剂条检验在快速诊断成人化脓性关节炎中的准确性。
IF 2 4区 医学 Q3 RHEUMATOLOGY Pub Date : 2024-08-30 DOI: 10.1186/s42358-024-00409-4
Peyman Mirghaderi, Mohammad-Taha Pahlevan-Fallahy, Jamil Mahmoudi, S M Javad Mortazavi

Backgrounds: Septic arthritis is a dangerous disease that occurs when microorganisms enter synovial fluid. It needs fast and accurate management; otherwise, it can harm the patient's life. Currently, the tests measure WBC and PMN in SF, so we hypothesized to use a proxy that is easier and faster to measure. Leukocyte esterase is an enzyme secreted by neutrophils that can be found in the synovial fluid of SA patients. In this study, we tried to investigate the sensitivity and specificity of leukocyte esterase in diagnosing septic arthritis.

Methods: We obtained synovial fluid samples from forty-six patients suspected of having septic arthritis and fifty-eight healthy individuals and measured the WBCs, ESR, CRP, PMN, glucose, and protein of SF in 2021. We also used the leukocyte esterase dipstick test to investigate the level of LE in synovial fluid for one minute.

Results: Based on clinical and paraclinical criteria, sixteen out of the forty-six patients were diagnosed with SA. When (++) was considered positive, the sensitivity and specificity of the LE dipstick test for the diagnosis of SA were 93.7% (95% CI: 81.8-100%) and 60% (95% CI: 42.4-77.5%, P = 0.000), respectively. When both (+) and (++) were considered positive, they were 100% and 43.3% (95% CI: 25.6-61.0% P = 0.000), respectively. All the patients in the control group had negative cultures and LE test readings (specificity = 100%).

Conclusion: The LE dipstick test can be a valuable diagnostic tool in the initial diagnosis of SA since it is affordable, fast, and reliable.

背景:化脓性关节炎是一种危险的疾病,当微生物进入滑液时就会发生。它需要快速、准确的治疗,否则会危及患者生命。目前的检测方法是测量 SF 中的 WBC 和 PMN,因此我们假设使用一种更容易、更快速测量的替代方法。白细胞酯酶是一种由中性粒细胞分泌的酶,可在 SA 患者的滑液中发现。本研究试图探讨白细胞酯酶在诊断化脓性关节炎方面的敏感性和特异性:方法:我们采集了 46 名疑似化脓性关节炎患者和 58 名健康人的滑液样本,并测定了 2021 年 SF 的白细胞、血沉、CRP、PMN、葡萄糖和蛋白质。我们还使用白细胞酯酶试纸检测滑液中一分钟白细胞酯酶的水平:根据临床和辅助临床标准,46 名患者中有 16 人被诊断为 SA。当(++)为阳性时,LE试纸检测对 SA 诊断的敏感性和特异性分别为 93.7% (95% CI: 81.8-100%) 和 60% (95% CI: 42.4-77.5%, P = 0.000)。当(+)和(++)均被视为阳性时,其阳性率分别为 100%和 43.3%(95% CI:25.6-61.0%,P = 0.000)。对照组所有患者的培养和LE检测读数均为阴性(特异性=100%):LE滴定管检测是初步诊断SA的重要诊断工具,因为它价格低廉、快速可靠。
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引用次数: 0
The influence of environmental factors related to Juvenile Dermatomyositis (JDM), its course and refractoriness to treatment. 环境因素对幼年皮肌炎(JDM)及其病程和难治性的影响。
IF 2 4区 医学 Q3 RHEUMATOLOGY Pub Date : 2024-08-30 DOI: 10.1186/s42358-024-00408-5
Clarissa C M Valões, Tamima M Arabi, Alfésio L F Braga, Lúcia M A Campos, Nádia E Aikawa, Kátia T Kozu, Clovis A Silva, Sylvia C L Farhat, Adriana M Elias

Objective: To evaluate the influence of environmental factors and prematurity relating to juvenile dermatomyositis (JDM), its course and refractoriness to treatment.

Methods: A case-control study with 35 patients followed up at a tertiary hospital and 124 healthy controls, all residents of São Paulo. Patients were classified according to monocyclic, polycyclic or chronic disease courses and refractoriness to treatment. The daily concentrations of pollutants (inhalable particulate matter-PM10, sulfur dioxide-SO2, nitrogen dioxide-NO2, ozone-O3 and carbon monoxide-CO) were provided by the Environmental Company of São Paulo. Data from the population were obtained through a questionnaire.

Results: Fifteen patients had monocyclic courses, and 19 polycyclic/chronic courses. Eighteen patients were refractory to treatment. Maternal occupational exposure to inhalable agents (OR = 17.88; IC 95% 2.15-148.16, p = 0.01) and exposure to O3 in the fifth year of life (third tertile > 86.28µg/m3; OR = 6.53, IC95% 1.60-26.77, p = 0.01) were risk factors for JDM in the multivariate logistic regression model. The presence of a factory/quarry at a distance farther than 200 meters from daycare/school (OR = 0.22; IC 95% 0.06-0.77; p = 0.02) was a protective factor in the same analysis. Prematurity, exposure to air pollutants/cigarette smoke/sources of inhalable pollutants in the mother's places of residence and work during the gestational period were not associated with JDM. Prematurity, maternal exposure to occupational pollutants during pregnancy as well as patient's exposure to ground-level pollutants up to the fifth year of life were not associated with disease course and treatment refractoriness.

Conclusion: Risk factors for JDM were maternal occupational exposure and exposure to O3 in the fifth year of life.

摘要评估环境因素和早产对幼年皮肌炎(JDM)及其病程和治疗耐受性的影响:病例对照研究:35 名患者在一家三级医院接受随访,124 名健康对照者均为圣保罗居民。患者按单环、多环或慢性病程和难治性分类。污染物(可吸入颗粒物-PM10、二氧化硫-SO2、二氧化氮-NO2、臭氧-O3和一氧化碳-CO)的日浓度由圣保罗环境公司提供。通过问卷调查获得了人群数据:结果:15 名患者为单循环病程,19 名患者为多循环/慢性病程。18名患者对治疗无效。在多变量逻辑回归模型中,母亲职业性接触可吸入制剂(OR = 17.88;IC 95% 2.15-148.16,p = 0.01)和出生后第五年接触臭氧(第三三元组 > 86.28µg/m3;OR = 6.53,IC 95% 1.60-26.77,p = 0.01)是 JDM 的风险因素。在同一分析中,距离托儿所/学校 200 米以外有工厂/采石场(OR = 0.22;IC 95% 0.06-0.77;P = 0.02)是一个保护因素。早产、妊娠期接触空气污染物/香烟烟雾/母亲居住地和工作场所的可吸入污染物来源与JDM无关。早产、母亲在怀孕期间接触职业污染物以及患者在出生后第五年之前接触地面污染物与病程和治疗难治性无关:结论:JDM的风险因素是母亲的职业暴露和出生后第五年的臭氧暴露。
{"title":"The influence of environmental factors related to Juvenile Dermatomyositis (JDM), its course and refractoriness to treatment.","authors":"Clarissa C M Valões, Tamima M Arabi, Alfésio L F Braga, Lúcia M A Campos, Nádia E Aikawa, Kátia T Kozu, Clovis A Silva, Sylvia C L Farhat, Adriana M Elias","doi":"10.1186/s42358-024-00408-5","DOIUrl":"https://doi.org/10.1186/s42358-024-00408-5","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the influence of environmental factors and prematurity relating to juvenile dermatomyositis (JDM), its course and refractoriness to treatment.</p><p><strong>Methods: </strong>A case-control study with 35 patients followed up at a tertiary hospital and 124 healthy controls, all residents of São Paulo. Patients were classified according to monocyclic, polycyclic or chronic disease courses and refractoriness to treatment. The daily concentrations of pollutants (inhalable particulate matter-PM<sub>10</sub>, sulfur dioxide-SO<sub>2</sub>, nitrogen dioxide-NO<sub>2</sub>, ozone-O<sub>3</sub> and carbon monoxide-CO) were provided by the Environmental Company of São Paulo. Data from the population were obtained through a questionnaire.</p><p><strong>Results: </strong>Fifteen patients had monocyclic courses, and 19 polycyclic/chronic courses. Eighteen patients were refractory to treatment. Maternal occupational exposure to inhalable agents (OR = 17.88; IC 95% 2.15-148.16, p = 0.01) and exposure to O<sub>3</sub> in the fifth year of life (third tertile > 86.28µg/m<sup>3</sup>; OR = 6.53, IC95% 1.60-26.77, p = 0.01) were risk factors for JDM in the multivariate logistic regression model. The presence of a factory/quarry at a distance farther than 200 meters from daycare/school (OR = 0.22; IC 95% 0.06-0.77; p = 0.02) was a protective factor in the same analysis. Prematurity, exposure to air pollutants/cigarette smoke/sources of inhalable pollutants in the mother's places of residence and work during the gestational period were not associated with JDM. Prematurity, maternal exposure to occupational pollutants during pregnancy as well as patient's exposure to ground-level pollutants up to the fifth year of life were not associated with disease course and treatment refractoriness.</p><p><strong>Conclusion: </strong>Risk factors for JDM were maternal occupational exposure and exposure to O<sub>3</sub> in the fifth year of life.</p>","PeriodicalId":48634,"journal":{"name":"Advances in Rheumatology","volume":"64 1","pages":"64"},"PeriodicalIF":2.0,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142113719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Challenges in implementing treat-to-target in rheumatoid arthritis: a perspective from Brazilian rheumatologists. 在类风湿关节炎中实施靶向治疗的挑战:巴西风湿病学家的观点。
IF 2 4区 医学 Q3 RHEUMATOLOGY Pub Date : 2024-08-26 DOI: 10.1186/s42358-024-00403-w
Adriana Maria Kakehasi, Angela Luzia Branco Pinto Duarte, Claiton Viegas Brenol, Diogo Souza Domiciano, Ieda Maria Magalhães Laurindo, Karina Rossi Bonfiglioli, Licia Maria Henrique da Mota, Maya H Buch, Eduardo de Almeida Macêdo, Ricardo Machado Xavier

Background: Patient management in rheumatoid arthritis (RA) has evolved to a "treat-to-target" (T2T) approach, which entails intensive treatment and regular follow-up with the goal of achieving low levels of disease activity or clinical remission. Even though a T2T approach is endorsed by professional organizations and yields superior outcomes, its implementation remains incomplete. EVEREST (EleVatE care in RhEumatoid arthritiS with Treat-to-target) is a quality-improvement initiative designed to improve the widespread implementation of a personalized T2T strategy and enable patients with RA to reach their full potential for remission. We describe the Brazilian results from the Global T2T Survey, first part of the EVEREST program.

Methods: Between June and September 2022, we conducted an online survey targeting rheumatologists in Brazil. Our objective was to evaluate the barriers and knowledge gaps hindering the effective implementation of T2T strategies. To achieve this, we employed a set of multiple-choice questions specifically crafted to elicit responses categorized in a structured order.

Results: 166 rheumatologists participated in the survey, 51% of them with more than 21 years of experience in rheumatology. Regarding the perceived challenges in the management of RA in clinical practice, the highest percentage of agreement/strong agreement among the participants was related to the contradictory results of disease activity measures (60%). In terms of the main barriers to assess the disease activity in clinical practice, the lack of adherence to treatment and contradictory assessments between patient-reported outcomes and composite measures were indicated by 75% and 59% of the participants, respectively, as a moderate/serious barrier. The most frequently knowledge and skill gaps related to the management of RA pointed out by the participants were on the difficulty to assess patients' health literacy (54% stated to have no more than intermediate knowledge on standardized methods to assess it and 43% no more than intermediate skills on determining the level of health literacy of the patients). In general, the use of tools to support the management of RA patients in clinical practice was indicated to be unusual by the participants. Self-reflection questionnaires, patient education materials and treatment consideration checklists were pointed out as the least frequently used tools (85%, 64% and 62% of the participants stated to use them never, rarely, or only sometimes, respectively).

Conclusions: Our findings indicate a greater need for design, selection, and uptake of practical strategies to further improve communication between healthcare providers and patients with RA, as well as for promoting well-informed, collaborative decision-making in their care.

背景:类风湿性关节炎(RA)的患者管理已发展为 "靶向治疗"(T2T)方法,包括强化治疗和定期随访,目标是实现低水平的疾病活动或临床缓解。尽管 T2T 方法得到了专业组织的认可,并取得了卓越的疗效,但其实施仍不彻底。EVEREST(EleVatE care in RhEumatoid arthritiS with Treat-to-target,类风湿性关节炎的靶向治疗)是一项质量改进计划,旨在改善个性化 T2T 策略的广泛实施,使 RA 患者充分发挥缓解的潜力。我们介绍了全球T2T调查(EVEREST计划的第一部分)在巴西的结果:2022年6月至9月,我们针对巴西的风湿免疫科医生进行了一次在线调查。我们的目标是评估阻碍有效实施 T2T 策略的障碍和知识差距。为此,我们专门设计了一组多项选择题,以引出按结构顺序分类的回答:166名风湿病学家参与了调查,其中51%的人拥有21年以上的风湿病学经验。关于在临床实践中管理 RA 所面临的挑战,参与者中同意/非常同意的最高比例与疾病活动度测量的矛盾结果有关(60%)。在临床实践中评估疾病活动性的主要障碍方面,分别有75%和59%的参与者表示,缺乏对治疗的依从性以及患者报告结果与综合测量结果之间的评估结果相互矛盾是中度/严重障碍。参与者最常指出的与RA管理相关的知识和技能差距是难以评估患者的健康素养(54%的参与者表示对标准化评估方法的了解不超过中等水平,43%的参与者表示对确定患者健康素养水平的技能不超过中等水平)。总体而言,参与者表示在临床实践中使用工具支持对RA患者的管理并不常见。他们指出,自我反思问卷、患者教育材料和治疗考虑清单是使用频率最低的工具(分别有85%、64%和62%的参与者表示从未使用、很少使用或仅偶尔使用):我们的研究结果表明,更有必要设计、选择和采用实用的策略,以进一步改善医疗服务提供者与 RA 患者之间的沟通,并促进患者在护理过程中做出知情的合作决策。
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引用次数: 0
Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches. 内部炎症动荡:自身炎症性疾病的遗传基础、临床表现和治疗方法探讨。
IF 2 4区 医学 Q3 RHEUMATOLOGY Pub Date : 2024-08-22 DOI: 10.1186/s42358-024-00404-9
Kátia Tomie Kozu, Renan Rodrigues Neves Ribeiro do Nascimento, Patrícia Pontes Aires, Rafael Alves Cordeiro, Thais Costa Lima de Moura, Flavio Roberto Sztajnbok, Ivanio Alves Pereira, Adriana Almeida de Jesus, Sandro Félix Perazzio

Systemic autoinflammatory diseases (SAIDs) arise from dysregulated innate immune system activity, which leads to systemic inflammation. These disorders, encompassing a diverse array of genetic defects classified as inborn errors of immunity, are significant diagnostic challenges due to their genetic heterogeneity and varied clinical presentations. Although recent advances in genetic sequencing have facilitated pathogenic gene discovery, approximately 40% of SAIDs patients lack molecular diagnoses. SAIDs have distinct clinical phenotypes, and targeted therapeutic approaches are needed. This review aims to underscore the complexity and clinical significance of SAIDs, focusing on prototypical disorders grouped according to their pathophysiology as follows: (i) inflammasomopathies, characterized by excessive activation of inflammasomes, which induces notable IL-1β release; (ii) relopathies, which are monogenic disorders characterized by dysregulation within the NF-κB signaling pathway; (iii) IL-18/IL-36 signaling pathway defect-induced SAIDs, autoinflammatory conditions defined by a dysregulated balance of IL-18/IL-36 cytokine signaling, leading to uncontrolled inflammation and tissue damage, mainly in the skin; (iv) type I interferonopathies, a diverse group of disorders characterized by uncontrolled production of type I interferons (IFNs), notably interferon α, β, and ε; (v) anti-inflammatory signaling pathway impairment-induced SAIDs, a spectrum of conditions characterized by IL-10 and TGFβ anti-inflammatory pathway disruption; and (vi) miscellaneous and polygenic SAIDs. The latter group includes VEXAS syndrome, chronic recurrent multifocal osteomyelitis/chronic nonbacterial osteomyelitis, Schnitzler syndrome, and Still's disease, among others, illustrating the heterogeneity of SAIDs and the difficulty in creating a comprehensive classification. Therapeutic strategies involving targeted agents, such as JAK inhibitors, IL-1 blockers, and TNF inhibitors, are tailored to the specific disease phenotypes.

全身性自身炎症性疾病(SAIDs)源于先天性免疫系统活动失调,导致全身性炎症。这些疾病包括一系列不同的遗传缺陷,被归类为先天性免疫错误,由于其遗传异质性和临床表现各不相同,因此在诊断上是一个重大挑战。虽然基因测序技术的最新进展促进了致病基因的发现,但仍有约 40% 的 SAIDs 患者缺乏分子诊断。SAIDs 具有不同的临床表型,需要有针对性的治疗方法。本综述旨在强调 SAIDs 的复杂性和临床意义,重点关注根据病理生理学分组的以下典型疾病:(i)炎性体病症,其特点是炎性体过度活化,从而诱发显著的 IL-1β 释放;(ii)继发性病症,这是一种单基因疾病,其特点是 NF-κB 信号通路失调;(iii)IL-18/IL-36 信号通路缺陷诱发的 SAIDs,这是一种自身炎症,其特点是 IL-18/IL-36 细胞因子信号平衡失调,导致炎症失控和组织损伤,主要发生在皮肤;(iv) I 型干扰素病(type I interferonopathies),这是一组以 I 型干扰素(IFNs),特别是干扰素 α、β 和 ε 的失控产生为特征的多种疾病;(v) 抗炎信号通路受损诱发的 SAIDs,这是一组以 IL-10 和 TGFβ 抗炎通路中断为特征的疾病;以及 (vi) 杂项和多基因 SAIDs。后一组包括 VEXAS 综合征、慢性复发性多灶性骨髓炎/慢性非细菌性骨髓炎、Schnitzler 综合征和 Still's 病等,说明 SAID 的异质性和建立全面分类的难度。涉及靶向药物(如 JAK 抑制剂、IL-1 阻断剂和 TNF 抑制剂)的治疗策略是针对特定疾病表型量身定制的。
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引用次数: 0
Targeting Bruton's tyrosine kinase (BTK) as a signaling pathway in immune-mediated diseases: from molecular mechanisms to leading treatments. 将布鲁顿酪氨酸激酶(BTK)作为免疫介导疾病的信号通路:从分子机制到主要治疗方法。
IF 2 4区 医学 Q3 RHEUMATOLOGY Pub Date : 2024-08-21 DOI: 10.1186/s42358-024-00401-y
Gita Manzari Tavakoli, Niloufar Yazdanpanah, Nima Rezaei

Bruton's tyrosine kinase (BTK), a nonreceptor tyrosine kinase, plays a remarkable role in the transmission and amplification of extracellular signals to intracellular signaling pathways. Various types of cells use the BTK pathway to communicate, including hematopoietic cells particularly B cells and T cells. The BTK pathway plays a role in controlling the proliferation, survival, and functions of B cells as well as other myeloid cells. First, second, and third-generation BTK inhibitors are currently being evaluated for the treatment of immune-mediated diseases in addition to B cell malignancies. In this article, the available evidence on the action mechanisms of BTK inhibitors is reviewed. Then, the most recent data obtained from preclinical studies and ongoing clinical trials for the treatment of autoimmune diseases, such as pemphigus vulgaris, pemphigus foliaceus, bullous pemphigoid, systemic lupus erythematosus, Sjögren's disease, rheumatoid arthritis, systemic sclerosis, multiple sclerosis, myasthenia gravis, and inflammatory diseases such as psoriasis, chronic spontaneous urticaria, atopic dermatitis, and asthma are discussed. In addition, adverse effects and complications associated with BTK inhibitors as well as factors predisposing patients to BTK inhibitors complications are discussed.

布鲁顿酪氨酸激酶(BTK)是一种非受体酪氨酸激酶,在细胞外信号向细胞内信号通路的传递和放大过程中发挥着重要作用。各种类型的细胞(包括造血细胞,特别是 B 细胞和 T 细胞)都利用 BTK 途径进行交流。BTK 通路在控制 B 细胞和其他骨髓细胞的增殖、存活和功能方面发挥着作用。目前正在评估第一、第二和第三代 BTK 抑制剂,以治疗 B 细胞恶性肿瘤以外的免疫介导疾病。本文回顾了有关 BTK 抑制剂作用机制的现有证据。然后,介绍从临床前研究和正在进行的临床试验中获得的用于治疗自身免疫性疾病的最新数据,这些疾病包括寻常天疱疮、斑丘疹性天疱疮、牛皮癣、系统性红斑狼疮、类风湿性关节炎、系统性硬化症、多发性硬化症、重症肌无力,以及银屑病、慢性自发性荨麻疹、特应性皮炎和哮喘等炎症性疾病。此外,还讨论了与 BTK 抑制剂相关的不良反应和并发症,以及患者易患 BTK 抑制剂并发症的因素。
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引用次数: 0
Brazilian version of the "Primary Sjögren's Syndrome - Quality of Life questionnaire (PSS-QoL)": translation, cross-cultural adaptation and validation. 巴西版 "原发性斯约金氏综合征--生活质量问卷(PSS-QoL)":翻译、跨文化改编和验证。
IF 2 4区 医学 Q3 RHEUMATOLOGY Pub Date : 2024-08-19 DOI: 10.1186/s42358-024-00395-7
Samira Tatiyama Miyamoto, Érica Vieira Serrano, Ana Paula Espíndula Gianórdoli, Lara Betini Altoé, Bianca Domingos Noronha, Pedro Henrique Alves Dos Santos, Ana Paula Truhlar Pedrini, Nicole Reis Souza da Silva, Letícia Fonseca Favarato, Luíza Vallory Alochio, Weider Andrade Tomé, Angelika Lackner, Valéria Valim

Background: The Primary Sjögren's Syndrome Quality of Life questionnaire (PSS-QoL) is the first specific instrument to assess health-related quality of life (HRQoL) in Sjögren's disease (SjD). The aim is to translate and cross-culturally adapt the PSS-QoL into Brazilian Portuguese and to evaluate its psychometric properties.

Methods: The original English version was translated into Brazilian Portuguese by two native Brazilians who were proficient in the English language. The retranslation was conducted by two native Americans proficient in Brazilian Portuguese. A committee undertook an analysis of the translated and retranslated versions, resulting in the generation of the first Brazilian version, which was submitted to the cross-cultural adaptation phase. In this phase, 50 participants with SjD responded to the instrument in Stages I and II, resulting in the generation of the second and final Brazilian version. To assess the psychometric properties, demographic and clinical data were collected from 75 patients. The HRQoL questionnaires (final Brazilian version of the PSS-QoL, Short Form-36 Health Survey (SF-36) and EuroQoL-5 dimension (EQ-5D)) were completed. Construct validity was analyzed using the Pearson or Spearman correlation coefficient. Reliability was analyzed using Cronbach's alpha and the intraclass correlation coefficient (ICC).

Results: Eight questions and one response item were revised due to an incomprehension rate of greater than 15% among the participants in the cross-cultural adaptation phase. The final Brazilian version of the PSS-QoL was validated, revealing a high correlation between the total score and functional capacity (r= -0.713, p < 0.001), and vitality (r= -0.770, p < 0. 001) and mental health (r= -0.742, p < 0.001) domains of the SF-36 and a moderate correlation with the other domains of the SF-36 and a moderate correlation with the EQ-5D-tto (r= -0.573, p < 0.001), and EQ-5D-VAS (r= -0.559, p < 0.001). The intraobserver (ICC = 0.939; Cronbach's alpha = 0.964) and interobserver (ICC = 0.965; Cronbach's alpha = 0.964) reliability of the total score showed very high consistency.

Conclusion: The Brazilian version of the PSS-QoL has been demonstrated to be a valid and reproducible instrument for the assessment of HRQoL in patients with SjD.

背景:原发性斯约格伦综合征生活质量调查问卷(PSS-QoL)是第一份评估斯约格伦病(SjD)健康相关生活质量(HRQoL)的专门工具。我们的目的是将 PSS-QoL 翻译成巴西葡萄牙语并进行跨文化调整,同时评估其心理测量特性:方法:由两名精通英语的巴西本地人将原始英语版本翻译成巴西葡萄牙语。重译工作由两名精通巴西葡萄牙语的美国本地人完成。一个委员会对翻译和重译版本进行了分析,最终产生了第一个巴西版本,并提交给跨文化适应阶段。在这一阶段,50 名 SjD 参与者对第一和第二阶段的问卷进行了回答,最终产生了第二版也是最终版的巴西语问卷。为评估心理测量特性,收集了 75 名患者的人口统计学和临床数据。填写了 HRQoL 问卷(最终巴西版 PSS-QoL、SF-36 健康调查简表和欧洲 QoL-5 维度 (EQ-5D))。结构效度采用皮尔逊或斯皮尔曼相关系数进行分析。使用 Cronbach's alpha 和类内相关系数 (ICC) 分析信度:结果:在跨文化适应阶段,由于参与者的不理解率超过 15%,对 8 个问题和 1 个回答项目进行了修订。最终的巴西版 PSS-QoL 经过验证,显示总分与功能能力之间存在较高的相关性(r= -0.713,p 结论:巴西版 PSS-QoL 与功能能力之间存在较高的相关性:巴西版 PSS-QoL 已被证明是评估 SjD 患者 HRQoL 的有效且可重复的工具。
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引用次数: 0
Principles of clinical genetics for rheumatologists: clinical indications and interpretation of broad-based genetic testing. 风湿病学家临床遗传学原理:广泛基因检测的临床适应症和解释。
IF 2 4区 医学 Q3 RHEUMATOLOGY Pub Date : 2024-08-14 DOI: 10.1186/s42358-024-00400-z
Renan Rodrigues Neves Ribeiro do Nascimento, Caio Robledo D'Angioli Costa Quaio, Christine Hsiaoyun Chung, Dewton de Moraes Vasconcelos, Flavio Roberto Sztajnbok, Nilton Salles Rosa Neto, Sandro Félix Perazzio

Advances in DNA sequencing technologies, especially next-generation sequencing (NGS), which is the basis for whole-exome sequencing (WES) and whole-genome sequencing (WGS), have profoundly transformed immune-mediated rheumatic disease diagnosis. Recently, substantial cost reductions have facilitated access to these diagnostic tools, expanded the capacity of molecular diagnostics and enabled the pursuit of precision medicine in rheumatology. Understanding the fundamental principles of genetics and diversity in genetic variant classification is a crucial milestone in rheumatology. However, despite the growing availability of DNA sequencing platforms, a significant number of autoinflammatory diseases (AIDs), neuromuscular disorders, hereditary collagen diseases, and monogenic bone diseases remain unsolved, and variants of uncertain significance (VUS) pose a formidable challenge to addressing these unmet needs in the coming decades. This article aims to provide an overview of the clinical indications and interpretation of comprehensive genetic testing in the medical field, addressing the related complexities and implications.

DNA 测序技术的进步,尤其是作为全外显子组测序(WES)和全基因组测序(WGS)基础的下一代测序(NGS)技术的进步,深刻地改变了免疫介导的风湿病诊断。最近,成本的大幅降低促进了这些诊断工具的普及,扩大了分子诊断的能力,使风湿病学追求精准医疗成为可能。了解遗传学的基本原理和基因变异分类的多样性是风湿病学的一个重要里程碑。然而,尽管DNA测序平台的可用性不断提高,但仍有大量自身炎症性疾病(AID)、神经肌肉疾病、遗传性胶原病和单基因骨病尚未得到解决,而意义不确定的变异体(VUS)对未来几十年解决这些尚未满足的需求构成了严峻的挑战。本文旨在概述全面基因检测在医学领域的临床适应症和解释,探讨相关的复杂性和影响。
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引用次数: 0
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Advances in Rheumatology
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