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Interplay between polygenic risk score and solar insolation: Implication for systemic lupus erythematosus diagnosis and pathogenesis 多基因风险评分与日照之间的相互作用:对系统性红斑狼疮诊断和发病机制的影响
IF 4.6 2区 医学 Q1 RHEUMATOLOGY Pub Date : 2024-08-10 DOI: 10.1016/j.semarthrit.2024.152531
I-Chieh Chen , Ta-Chien Chan , Hui-Wen Yang , Yen-Ju Chen , Yi-Ming Chen

Objectives

This research elucidates the correlation between solar radiation insolation, polygenic risk score (PRS), and systemic lupus erythematosus (SLE) diagnosis, utilizing genomic, environmental, and clinical data.

Methods

We included 1,800 SLE participants and 1,800 controls from the Taiwan Precision Medicine Initiative, genotyped via the Affymetrix Genome-Wide TWB 2.0 SNP Array. The study employed a SLE-PRS tailored for individuals of Taiwanese ancestry, comprising 27 single nucleotide polymorphisms (SNPs). QGIS computed solar radiation insolation from participants' residences. We employed logistic regression to investigate the associations between SLE-PRS, solar insolation susceptibility, and SLE. Additive and multiplicative interactions were utilized to assess the interactions between solar insolation and SLE-PRS regarding the risk of SLE.

Results

SLE patients showed decreased solar insolation (p < 0.001). The highest decile of SLE-PRS exhibited a statistically significant lower solar insolation 1, 3, 6, and 12 months prior to diagnosis as compared to the lowest decile. Specifically, there were significant differences observed at 1 and 12 months (p = 0.025 and p = 0.004, respectively). It suggests that higher SLE-PRS correlated with reduced solar insolation tolerance. We observed an increase in SLE risk across ascending SLE-PRS percentiles exclusively in the high solar insolation group, not in the low solar insolation group. However, the interaction effect of SLE-PRS and solar insolation on SLE risk is not statistically significant. Compared to the lowest decile, the highest SLE-PRS decile showed a 10.98-fold increase in SLE risk (95 % CI, 3.773–31.952, p < 0.001). High SLE-PRS scores in conjunction with high solar insolation contribute to SLE incidence.

Conclusions

Our study unveils the intertwined nature of UV insolation and polygenic risks in SLE. Future studies should explore the preventative potential of robust solar radiation protection for high-risk individuals before the disease onset.

目的本研究利用基因组、环境和临床数据,阐明太阳辐射日照、多基因风险评分(PRS)和系统性红斑狼疮(SLE)诊断之间的相关性。方法我们纳入了台湾精准医疗计划(Taiwan Precision Medicine Initiative)中的 1800 名系统性红斑狼疮患者和 1800 名对照者,并通过 Affymetrix 全基因组 TWB 2.0 SNP 阵列进行了基因分型。该研究采用了专为台湾血统个体定制的系统性红斑狼疮-PRS,包括 27 个单核苷酸多态性(SNPs)。QGIS 计算了参与者居住地的太阳辐射日照。我们采用逻辑回归法研究了 SLE-PRS、日照易感性和系统性红斑狼疮之间的关联。我们利用加法和乘法交互作用来评估太阳日照与 SLE-PRS 之间在系统性红斑狼疮风险方面的交互作用。结果系统性红斑狼疮患者的太阳日照减少(p < 0.001)。与最低的十分位数相比,SLE-PRS 最高的十分位数在诊断前 1、3、6 和 12 个月的日照显著降低。特别是在 1 个月和 12 个月时,观察到了明显的差异(分别为 p = 0.025 和 p = 0.004)。这表明,较高的系统性红斑狼疮-PRS 与较低的日照耐受性有关。我们观察到,SLE-PRS 百分位数越高,系统性红斑狼疮的风险越大,这种情况只发生在日照强度高的组别中,而不发生在日照强度低的组别中。然而,SLE-PRS 和太阳日照对系统性红斑狼疮风险的交互效应在统计学上并不显著。与最低十分位数相比,SLE-PRS 最高十分位数的系统性红斑狼疮风险增加了 10.98 倍(95 % CI,3.773-31.952,p <0.001)。结论我们的研究揭示了紫外线日照与系统性红斑狼疮多基因风险相互交织的本质。未来的研究应探索在疾病发病前为高危人群提供强有力的太阳辐射防护的预防潜力。
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引用次数: 0
Clinical stratification of 1318 Primary Sjögren's Syndrome patients 对 1318 名原发性斯约格伦综合征患者进行临床分层
IF 4.6 2区 医学 Q1 RHEUMATOLOGY Pub Date : 2024-08-10 DOI: 10.1016/j.semarthrit.2024.152537
Jinxia Fang , Jiajia Wang , Jing Luo , Ping Wang , Jin Zhang , Dan Chen , Wenjing Ye , Yi Zhang , Shaobiao Pan , Xiaobing Wang

Objective

Primary Sjögren's Syndrome (pSS) is a complex autoimmune disorder characterized by diverse clinical manifestations yet lacking effective therapeutic strategies currently. This study aims to gain a thorough understanding of the clinical landscape of pSS and further delineate its clinical subtypes, thereby enabling the efficient management for pSS.

Methods

We conducted a cross-sectional observational study of 1318 pSS patients. The pSS patients were categorized and compared based on gender, anti-SSA antibodies, and labial salivary gland biopsies (LGSB). Unsupervised clustering analysis was employed to identify pSS subtypes using systemic involvement among patients. Furthermore, we assessed clinical and biological variances among these subtypes.

Results

Through group comparisons, we observed more pronounced extraglandular manifestations among male patients, SSA-negative group, and those with positive LGSB results. Based on systemic involvement, pSS patients were categorized into four groups. C1 exhibited minimal systemic involvement, lacking hematologic or serologic manifestations, with the lowest ESSDAI scores. C2 presented with serologic changes in all patients, partial joint involvement, and no hematologic systemic manifestations. C3 lacked joint involvement but all members displayed hematologic systemic involvement, with higher rates of renal, cutaneous, and systemic manifestations. C4 encompassed patients with joint and hematologic involvement, displaying the highest ESSDAI scores. The positivity rates of antibodies, immunological parameters, and inflammatory markers exhibited significant differences among the groups. Furthermore, notable variances were observed in the expression of peripheral blood transcriptomic modules among these groups.

Conclusion

In this cohort study, we summarized the clinical characteristics of Chinese patients with pSS and identified four distinct subgroups of pSS based on systemic involvement, revealing clinical and molecular disparities that unveil distinct pathobiological endotypes. Our findings hold significant implications for clinical management.

目的原发性斯约格伦综合征(pSS)是一种复杂的自身免疫性疾病,临床表现多种多样,但目前缺乏有效的治疗策略。本研究旨在全面了解 pSS 的临床表现,并进一步划分其临床亚型,从而为 pSS 的有效治疗提供依据。我们对 1318 名 pSS 患者进行了横断面观察研究,并根据性别、抗 SSA 抗体和唇唾液腺活检(LGSB)对 pSS 患者进行了分类和比较。我们采用无监督聚类分析,根据患者的全身受累情况确定 pSS 亚型。结果通过分组比较,我们观察到男性患者、SSA 阴性组和 LGSB 阳性组的腺外表现更明显。根据全身受累情况,pSS 患者被分为四组。C1 组全身受累程度轻,无血液学或血清学表现,ESSDAI 评分最低。C2 组所有患者均出现血清学变化,部分关节受累,无血液系统表现。C3 没有关节受累,但所有成员都有血液系统受累,其中肾脏、皮肤和全身表现的比例较高。C4包括关节和血液系统受累的患者,ESSDAI评分最高。各组间的抗体阳性率、免疫学参数和炎症标志物均有显著差异。结论 在这项队列研究中,我们总结了中国 pSS 患者的临床特征,并根据全身受累情况确定了四个不同的 pSS 亚组,揭示了不同病理生物学内型的临床和分子差异。我们的研究结果对临床治疗具有重要意义。
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引用次数: 0
Clinical characteristics of idiopathic inflammatory myopathies patients with anti-PM/Scl antibodies 特发性炎症性肌病患者抗PM/Scl抗体的临床特征。
IF 4.6 2区 医学 Q1 RHEUMATOLOGY Pub Date : 2024-08-10 DOI: 10.1016/j.semarthrit.2024.152536
Longyang Zhu , Chen Zong , Yiran Chen , Guochun Wang , Yongpeng Ge

Objectives

To analyze the clinical features of idiopathic inflammatory myopathies (IIMs) patients with anti-PM/Scl antibodies.

Methods

In this retrospective cohort study, we compared the clinical manifestations between patients who were solely positive for anti-PM/Scl antibodies (isolated anti-PM/Scl group) and those with a coexistence of anti-PM/Scl antibodies and myositis-specific antibodies (MSAs) (double-positive group).

Results

Sixty-five IIMs patients positive for anti-PM/Scl antibodies were included, among whom 51 (78.5 %) were females, with a mean age of 49.1 years. Thirty-four (52.3 %) patients coexisted with MSAs. Compared to the double-positive group, the isolated anti-PM/Scl group demonstrated a higher proportion of women (90.3 % vs 67.6 %, p = 0.026) and a higher incidence of sclerodactyly (16.1 % vs 0, p = 0.021). Although there were no differences in the incidence of muscular weakness, dysphagia, or creatine kinase levels, thigh magnetic resonance imaging (MRI) revealed less muscle edema, atrophy, and fatty replacement in the isolated anti-PM/Scl group (p < 0.05). Interstitial lung disease (ILD) occurred in 80 % of patients, more frequently in the double-positive group (90.6 % vs 67.9 %, p = 0.028). According to HRCT, non-specific interstitial pneumonia (NSIP) was the most common pattern among anti-PM/Scl antibodies positive IIMs patients. The double-positive group exhibited higher ferritin levels, and a lower peripheral lymphocyte count (p < 0.05). The mortality rate in the double-positive group was higher than that in the isolated anti-PM/Scl group (20.6 % vs 0, p = 0.034).

Conclusion

Among IIMs patients who tested positive for anti-PM/Scl antibodies, ILD emerged as the predominant clinical feature, particularly when combined with MSA. Notably, patients with isolated anti-PM/Scl antibodies exhibited a favorable prognosis following immunotherapy.

目的:分析抗PM/Scl抗体特发性炎症性肌病(IIM)患者的临床特征:分析特发性炎症性肌病(IIMs)患者抗PM/Scl抗体的临床特征:在这项回顾性队列研究中,我们比较了抗-PM/Scl抗体单纯阳性患者(孤立抗-PM/Scl组)和抗-PM/Scl抗体与肌炎特异性抗体(MSA)共存患者(双阳性组)的临床表现:65名抗PM/Scl抗体阳性的IIMs患者中,51人(78.5%)为女性,平均年龄49.1岁。34名患者(52.3%)同时患有MSA。与双阳性组相比,孤立抗PM/Scl组的女性比例更高(90.3% vs 67.6%,P = 0.026),硬骨畸形的发生率更高(16.1% vs 0,P = 0.021)。虽然肌肉无力、吞咽困难或肌酸激酶水平的发生率没有差异,但大腿磁共振成像(MRI)显示,孤立抗PM/Scl组的肌肉水肿、萎缩和脂肪替代较少(p < 0.05)。80%的患者出现间质性肺病(ILD),双阳性组更常见(90.6% vs 67.9%,p = 0.028)。根据 HRCT,非特异性间质性肺炎(NSIP)是抗 PM/Scl 抗体阳性 IIMs 患者中最常见的模式。双阳性组的铁蛋白水平较高,外周淋巴细胞计数较低(P < 0.05)。双阳性组的死亡率高于分离抗PM/Scl组(20.6% vs 0,P = 0.034):结论:在抗PM/Scl抗体检测呈阳性的IIMs患者中,ILD是主要的临床特征,尤其是合并MSA时。值得注意的是,分离出抗PM/Scl抗体的患者在接受免疫治疗后预后良好。
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引用次数: 0
Bone and entheseal targets for growth factors in diffuse idiopathic skeletal hyperostosis 弥漫性特发性骨骼发育不良症中生长因子的骨骼和胫骨靶点
IF 4.6 2区 医学 Q1 RHEUMATOLOGY Pub Date : 2024-08-10 DOI: 10.1016/j.semarthrit.2024.152532
Geoffrey Owen Littlejohn

Introduction

Diffuse idiopathic skeletal hyperostosis (DISH) is a common condition of the adult skeleton where new bone growth occurs in entheseal and bony regions. The cause for the new bone growth is unclear but many lines of evidence point to a role for growth factors linked to abnormal metabolism in these patients. The bone targets for these presumed growth factors are poorly defined. This review summarises the clinical evidence relevant to the sites of origin of new bone formation in DISH to better define potential cellular targets for bone growth in DISH.

Methods

This is a narrative review of relevant papers identified from searches of PubMed and online journals.

Results

Sites of new bone growth in the enthesis were identified in patients with DISH, with likely cellular targets for growth factors being mesenchymal stem cells in the outer part of the enthesis. Similar undifferentiated skeletal stem cells are present in the outer annulus fibrosis and in the bony eminences of vertebral bodies and other bones, with the potential for response to growth factors.

Conclusion

Mesenchymal stem cells are present in specific entheseal and bony locations that are likely responsive to putative growth factors leading to new bone formation characteristic of DISH. Further study of these regions in the context of metabolic abnormalities in DISH will allow for better understanding of the pathophysiology of this common condition.

导言弥漫性特发性骨骼增生症(DISH)是成人骨骼的一种常见病,新骨生长发生在胫骨内侧和骨性区域。新骨生长的原因尚不清楚,但有许多证据表明,这些患者体内的生长因子与异常代谢有关。这些假定的生长因子的骨骼靶点尚不明确。本综述总结了与DISH患者新骨形成起源部位相关的临床证据,以更好地界定DISH患者骨生长的潜在细胞靶点。结果在DISH患者的骨内膜中发现了新骨生长部位,生长因子的细胞靶点可能是骨内膜外侧的间充质干细胞。结论间充质干细胞存在于特定的内眦和骨质部位,这些部位可能对导致DISH特征性新骨形成的假定生长因子有反应。在DISH代谢异常的背景下进一步研究这些区域,将有助于更好地了解这种常见疾病的病理生理学。
{"title":"Bone and entheseal targets for growth factors in diffuse idiopathic skeletal hyperostosis","authors":"Geoffrey Owen Littlejohn","doi":"10.1016/j.semarthrit.2024.152532","DOIUrl":"10.1016/j.semarthrit.2024.152532","url":null,"abstract":"<div><h3>Introduction</h3><p>Diffuse idiopathic skeletal hyperostosis (DISH) is a common condition of the adult skeleton where new bone growth occurs in entheseal and bony regions. The cause for the new bone growth is unclear but many lines of evidence point to a role for growth factors linked to abnormal metabolism in these patients. The bone targets for these presumed growth factors are poorly defined. This review summarises the clinical evidence relevant to the sites of origin of new bone formation in DISH to better define potential cellular targets for bone growth in DISH.</p></div><div><h3>Methods</h3><p>This is a narrative review of relevant papers identified from searches of PubMed and online journals.</p></div><div><h3>Results</h3><p>Sites of new bone growth in the enthesis were identified in patients with DISH, with likely cellular targets for growth factors being mesenchymal stem cells in the outer part of the enthesis. Similar undifferentiated skeletal stem cells are present in the outer annulus fibrosis and in the bony eminences of vertebral bodies and other bones, with the potential for response to growth factors.</p></div><div><h3>Conclusion</h3><p>Mesenchymal stem cells are present in specific entheseal and bony locations that are likely responsive to putative growth factors leading to new bone formation characteristic of DISH. Further study of these regions in the context of metabolic abnormalities in DISH will allow for better understanding of the pathophysiology of this common condition.</p></div>","PeriodicalId":21715,"journal":{"name":"Seminars in arthritis and rheumatism","volume":null,"pages":null},"PeriodicalIF":4.6,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0049017224001720/pdfft?md5=3aa4eb3edb994d300d40191174489171&pid=1-s2.0-S0049017224001720-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141985665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Patient questionnaires for clinical decisions at the point of care, in addition to research reports, an intellectual and ethical opportunity for rheumatologists: A tribute to Frederick Wolfe, MD (July 1, 1936 - September 5, 2023). 除研究报告外,在护理点进行临床决策的患者问卷调查也是风湿病学家的知识和道德机遇:向弗雷德里克-沃尔夫医学博士(1936 年 7 月 1 日至 2023 年 9 月 5 日)致敬。
IF 4.6 2区 医学 Q1 RHEUMATOLOGY Pub Date : 2024-08-10 DOI: 10.1016/j.semarthrit.2024.152528
Theodore Pincus, Leigh F Callahan
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引用次数: 0
Construct validity of PROMIS pain interference, fatigue, and physical function as patient-reported outcomes in adults with idiopathic inflammatory myopathies: An international study from the OMERACT myositis working group 作为特发性炎症性肌病成人患者报告结果的 PROMIS 疼痛干扰、疲劳和身体功能的结构有效性:来自 OMERACT 肌炎工作组的一项国际研究
IF 4.6 2区 医学 Q1 RHEUMATOLOGY Pub Date : 2024-08-10 DOI: 10.1016/j.semarthrit.2024.152534
Ellen Romich , Didem Saygin , Dana DiRenzo , Christopher A. Mecoli , Ingrid de Groot , Karin Lodin , Malin Regardt , Catherine Sarver , Ju Yeon Kim , Jin Kyun Park , Kelly Beer , Merrilee Needham , Helene Alexanderson , Lisa Christopher-Stine , Marianne de Visser , Joost Raaphorst , OMERACT Myositis Working Group

Background

Validated patient-reported outcome measures to assess disease impact in patients with adult idiopathic inflammatory myopathies (IIMs) are needed. The objective of this study was to assess the construct validity of PROMIS Pain Interference, Fatigue, and Physical Function measures in comparison with core disease activity measures.

Methods

Adults with IIM, excluding inclusion body myositis, from OMERACT Myositis Working Group (MWG) clinic sites completed PROMIS Short Form v1.0—Pain Interference 6a, PROMIS Short Form v1.0—Fatigue 7a, and PROMIS Short Form v2.0—Physical Function 8b measures. Core disease activity measures including patient and physician global disease activity assessments, manual muscle testing, serum creatine kinase activity, and Health Assessment Questionnaire Disability Index (HAQ-DI) were simultaneously assessed. To evaluate construct validity, a priori hypotheses for the expected correlations between PROMIS measures, age, and core disease measures were determined by >70 % agreement among MWG members and were compared against observed Pearson's correlations. Internal consistency of items and floor or ceiling effects for the PROMIS measures were also assessed. Subgroup analysis according to IIM subtype (dermatomyositis vs. non-dermatomyositis IIM) was performed.

Results

135 adults with IIM from 5 countries across North America, Europe, Asia, and Australia were included. For construct validity, a priori hypotheses were confirmed for 5 of 6 (83 %) PROMIS Pain Interference, 4 of 5 (80 %) PROMIS Fatigue, and 3 of 4 (75 %) PROMIS Physical Function correlations. Internal consistency was high for each PROMIS measure (Cronbach's alpha >0.9). Ceiling effects were observed only for PROMIS Pain Interference, with low/no pain in 29 % of patients. Subgroup analysis between dermatomyositis (n = 65) and non-dermatomyositis (n = 70) subtypes demonstrated similar correlations between PROMIS measures and disease activity measures.

Conclusions

PROMIS Short Form v1.0—Pain Interference 6a, PROMIS Short Form v1.0—Fatigue 7a, and PROMIS Short Form v2.0—Physical Function 8b measures demonstrate strong construct validity when compared to core disease activity measures in IIM, with consistent results across IIM subtypes. These findings support the use of these selected PROMIS measures to assess core domains of interest for measuring life impact in IIMs.

背景需要经过验证的患者报告结果测量方法来评估成人特发性炎症性肌病(IIM)患者的疾病影响。方法来自OMERACT肌炎工作组(MWG)诊所的成人特发性炎症性肌病(不包括包涵体肌炎)患者完成PROMIS简表v1.0-疼痛干扰6a、PROMIS简表v1.0-疲劳7a和PROMIS简表v2.0-物理功能8b测量。同时评估的核心疾病活动度包括患者和医生的总体疾病活动度评估、手动肌肉测试、血清肌酸激酶活动度和健康评估问卷残疾指数(HAQ-DI)。为了评估结构效度,先验假设 PROMIS 测量、年龄和核心疾病测量之间的预期相关性由工作组成员的 70% 一致意见确定,并与观察到的皮尔逊相关性进行比较。此外,还评估了项目的内部一致性以及 PROMIS 测量的下限或上限效应。根据IIM亚型(皮肌炎与非皮肌炎IIM)进行了分组分析。结果 纳入了来自北美、欧洲、亚洲和澳大利亚5个国家的135名成人IIM患者。在构造效度方面,PROMIS 疼痛干扰6项中的5项(83%)、PROMIS 疲劳5项中的4项(80%)以及PROMIS 体力功能4项中的3项(75%)的先验假设均得到了证实。每项 PROMIS 测量的内部一致性都很高(Cronbach's alpha >0.9)。仅在 PROMIS 疼痛干扰方面观察到了天花板效应,29% 的患者疼痛程度低/无疼痛。皮肌炎亚型(n = 65)和非皮肌炎亚型(n = 70)之间的分组分析表明,PROMIS测量值与疾病活动测量值之间具有相似的相关性。结论PROMIS简表v1.0-疼痛干扰6a、PROMIS简表v1.0-疲劳7a和PROMIS简表v2.0-体能8b测量值与IIM的核心疾病活动测量值相比,具有很强的建构效度,在IIM亚型中结果一致。这些研究结果支持使用这些选定的 PROMIS 测量来评估核心领域,以衡量 IIM 对生活的影响。
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引用次数: 0
Autoantibodies and damage in patients with idiopathic inflammatory myopathies: A longitudinal multicenter study from the MYONET international network 特发性炎症性肌病患者的自身抗体和损伤:MYONET国际网络多中心纵向研究。
IF 4.6 2区 医学 Q1 RHEUMATOLOGY Pub Date : 2024-08-08 DOI: 10.1016/j.semarthrit.2024.152529
Fabricio Espinosa-Ortega , Karin Lodin , Maryam Dastmalchi , Jiri Vencovsky , Louise P Diederichsen , Samuel Katsuyuki Shinjo , Maria Giovanna Danieli , Albert Selva-O'Callaghan , Marianne de Visser , Zoltan Griger , Angela Ceribelli , Diana Gómez-Martin , Helena Andersson , Mónica Vázquez-Del Mercado , Hector Chinoy , James B Lilleker , Paul New , Niels S Krogh , Ingrid E Lundberg , Helene Alexanderson

Objective

To study the trajectories of changes in damage over time and explore associations with autoantibody defined subgroups using a large international cohort of patients with idiopathic inflammatory myopathies (IIM).

Methods

Data from the MYONET registry, including patients who were tested for autoantibodies and had at least one assessment of damage using the Myositis Damage Index (MDI), were analyzed. Patients were sub-grouped according to their autoantibody profiles (myositis-specific, myositis-associated, or seronegative). The index date was defined as the time point for the first registered MDI assessment. The longitudinal trajectories of damage with autoantibody status as the main predictor were analyzed using linear mixed models.

Results

A total of 757 adult patients were included in this study. Each year of disease duration since diagnosis had an estimated MDI score increase of 0.16 units for the seronegative group (reference). Compared with the seronegative group as reference, patients with dermatomyositis-specific autoantibodies developed less damage per year of follow-up since diagnosis (average 0.08 less score, P = 0.04), whereas patients with anti-PM/Scl autoantibodies developed more damage per year of follow-up since diagnosis (average 0.28 higher score, P = 0.03) independent of sex and age at diagnosis. The seronegative subgroup and the immune-mediated necrotizing myopathy autoantibody subgroup had the strongest correlation between severity of muscle damage and HAQ-DI scores at five years of follow-up, rho=0.84, P < 0.001 and rho=0.72, P < 0.001, respectively.

Conclusion

Our study is the first to describe patterns and trajectories of change in damage over time in relation to autoantibody defined subgroups in a large international multicenter cohort of patients with IIM. Patients with anti-PM/Scl scored a greater extent of damage, whereas patients with dermatomyositis-specific antibodies had less damage than seronegative patients. Severity in muscle damage had moderate to strong correlation with functional disability among the IMNM and seronegative subgroups with lower correlations for the other subgroups. These findings suggest that autoantibodies may be useful predictors of long-term damage.

目的利用特发性炎症性肌病(IIM)患者的大型国际队列研究损伤随时间变化的轨迹,并探讨与自身抗体定义的亚组之间的关联:分析了MYONET登记处的数据,其中包括接受自身抗体检测并至少使用肌炎损害指数(MDI)进行过一次损害评估的患者。根据患者的自身抗体情况(肌炎特异性、肌炎相关性或血清阴性)对患者进行分组。指标日期被定义为首次登记 MDI 评估的时间点。采用线性混合模型分析了以自身抗体状态为主要预测因素的损害纵向轨迹:本研究共纳入 757 名成年患者。血清阴性组(参照组)自确诊以来,病程每延长一年,MDI评分估计会增加0.16个单位。与血清阴性组(参照组)相比,皮肌炎特异性自身抗体患者自确诊后每随访一年所受的损害较小(平均减少0.08分,P = 0.04),而抗PM/Scl自身抗体患者自确诊后每随访一年所受的损害较大(平均增加0.28分,P = 0.03),与性别和确诊时的年龄无关。血清阴性亚组和免疫介导的坏死性肌病自身抗体亚组的肌肉损伤严重程度与随访五年的HAQ-DI评分之间的相关性最强,分别为rho=0.84,P<0.001和rho=0.72,P<0.001:我们的研究首次在大型国际多中心 IIM 患者队列中描述了与自身抗体定义亚组相关的损伤随时间变化的模式和轨迹。抗PM/Scl患者的损伤程度更严重,而皮肌炎特异性抗体患者的损伤程度低于血清阴性患者。在IMNM和血清阴性亚组中,肌肉损伤的严重程度与功能障碍有中度到高度的相关性,而其他亚组的相关性较低。这些发现表明,自身抗体可能是预测长期损伤的有用指标。
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引用次数: 0
Differences in the autoantibody phenotypes and long-term outcomes between juvenile- and adult-idiopathic inflammatory myopathies 幼年和成年特发性炎症性肌病的自身抗体表型和长期疗效的差异
IF 4.6 2区 医学 Q1 RHEUMATOLOGY Pub Date : 2024-08-08 DOI: 10.1016/j.semarthrit.2024.152530
Hideaki Tsuji , Ran Nakashima , Takahiro Yasumi , Tsuneo Sasai , Yuki Ichimura , Mirei Shirakashi , Hideo Onizawa , Ryosuke Hiwa , Koji Kitagori , Shuji Akizuki , Akira Onishi , Hajime Yoshifuji , Masao Tanaka , Naoko Okiyama , Tsuneyo Mimori , Akio Morinobu

Objective

To investigate differences in autoantibodies, clinical features, and long-term outcomes between juvenile-idiopathic inflammatory myopathy (IIM) and adult-IIM

Methods

Autoantibodies, clinical characteristics, and drug-free conditions for a maximum of 20 years were retrospectively analyzed in 320 Japanese IIM patients (juvenile-IIM, n = 34; adult-IIM, n = 286) using the Kyoto University Registry.

Results

Autoantibodies observed in juvenile-IIM were anti-TIF1-γ (15 %), anti-MDA-5 (15 %), anti-ARS (9 %), and anti-NXP-2 (6 %). Those observed in adult-IIM were anti-ARS (32 %), anti-MDA-5 (23 %), anti-TIF1-γ (8 %), anti-SRP (8 %), anti-Mi-2 (2 %), and anti-NXP-2 (1 %). The cumulative drug-free condition rate was higher in juvenile-IIM than in adult-IIM up to 20 years (juvenile-IIM vs. adult-IIM, 34 % vs. 18 %, p = 0.0016). Anti-TIF1-γ was associated with lesser muscle symptoms (60 % vs. 90 %), malignancy (0 % vs. 57 %), and glucocorticoid use (40 % vs. 86 %) in juvenile-IIM compared to adult-IIM, while juvenile-IIM more achieved drug-free conditions (60 % vs. 25 %). Both juvenile-IIM and adult-IIM with anti-MDA-5 demonstrated a high frequency of amyopathic dermatomyositis, interstitial lung disease (ILD), and multi-immunosuppressive therapy, with high drug-free conditions (50 % vs. 49 %). Both juvenile-IIM and adult-IIM with anti-ARS showed frequent skin rashes, muscle symptoms, and ILD, frequent need for multi-immunosuppressive therapy, and low drug-free condition rates (0 % vs. 3 %). Both juvenile-IIM and adult-IIM with anti-NXP-2 showed frequent skin rashes and muscle symptoms, low ILD frequency, and frequent use of methotrexate and glucocorticoids, which did not achieve drug-free conditions (0 % vs. 0 %).

Conclusions

Drug-free condition was achieved more frequently in juvenile-IIM patients than adult-IIM patients. Specific autoantibodies were associated with different clinical characteristics and outcomes between juvenile-IIM and adult-IIM.

目的 研究幼年型特发性炎症性肌病(IIM)和成年型特发性炎症性肌病之间在自身抗体、临床特征和长期预后方面的差异。方法 使用京都大学登记表对 320 名日本 IIM 患者(幼年型 IIIM,34 人;成年型 IIIM,286 人)的自身抗体、临床特征和最长 20 年的无药状态进行了回顾性分析。结果 在青少年 IIIM 中观察到的自身抗体有抗 TIF1-γ (15%)、抗 MDA-5 (15%)、抗ARS (9%)和抗 NXP-2 (6%)。在成人-IIM 中观察到的抗ARS(32%)、抗 MDA-5(23%)、抗 TIF1-γ(8%)、抗 SRP(8%)、抗 Mi-2(2%)和抗 NXP-2(1%)。20 年内,青少年 IIM 的累积无药状态率高于成年 IIM(青少年 IIM 与成年 IIM 相比,34 % 对 18 %,p = 0.0016)。与成年 IIM 相比,抗 TIF1-γ 与青少年 IIM 较少的肌肉症状(60% 对 90%)、恶性肿瘤(0% 对 57%)和糖皮质激素的使用(40% 对 86%)有关,而青少年 IIM 则更多地达到了无药状态(60% 对 25%)。患有抗 MDA-5 的幼年 IIM 和成年 IIM 均表现出较高的肌病性皮肌炎、间质性肺病(ILD)和多重免疫抑制治疗的频率,无药物治疗的比例较高(50% 对 49%)。患有抗ARS的幼年 IIM 和成年 IIM 都经常出现皮疹、肌肉症状和 ILD,经常需要接受多种免疫抑制治疗,无药状态率低(0% 对 3%)。抗 NXP-2 的幼年 IIM 和成年 IIM 均频繁出现皮疹和肌肉症状,ILD 发生率低,频繁使用甲氨蝶呤和糖皮质激素,但均未达到无药状态(0 % vs. 0 %)。特异性自身抗体与幼年胰岛素瘤和成年胰岛素瘤的不同临床特征和预后有关。
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引用次数: 0
Large-vessel imaging in patients with giant cell arteritis with scalp involvement: A commentary on giant cell arteritis associated with scalp, tongue or lip necrosis in a French multi-center case control study 头皮受累的巨细胞动脉炎患者的大血管成像:法国一项多中心病例对照研究对伴有头皮、舌头或嘴唇坏死的巨细胞动脉炎的评述
IF 4.6 2区 医学 Q1 RHEUMATOLOGY Pub Date : 2024-08-06 DOI: 10.1016/j.semarthrit.2024.152512
Daniel Montes , Nicholas E. Bohrer , Kenneth J. Warrington , Matthew J. Koster
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引用次数: 0
Minimally invasive interventional procedures for osteoarthritis and inflammatory arthritis: A systematic review and meta-analysis 治疗骨关节炎和炎症性关节炎的微创介入手术:系统回顾和荟萃分析。
IF 4.6 2区 医学 Q1 RHEUMATOLOGY Pub Date : 2024-08-05 DOI: 10.1016/j.semarthrit.2024.152525
Jacopo Ciaffi , Nicolas Papalexis , Elena Vanni , Marco Miceli , Cesare Faldini , Lorenza Scotti , Antonella Zambon , Carlo Salvarani , Roberto Caporali , Giancarlo Facchini , Francesco Ursini

Objective

to summarize the evidence on the efficacy of minimally invasive interventional procedures such as radiofrequency ablation (RFA) and transcatheter arterial embolization (TAE) in patients with osteoarthritis or inflammatory arthritis.

Methods

a literature search was conducted in PubMed and Web of Science databases. Both randomized controlled trials (RCTs) and non-randomized studies of interventions (NRSI) were included. The results were organized according to the treated anatomical site: knee, hip, foot and ankle, shoulder, hand and wrist, sacroiliac joints. Data about treatment efficacy were extracted. The main outcome was change in pain intensity using the 0–10 visual analog scale (VAS) from baseline to 1 month. Additional timepoints at 3, 6 and 12 months were assessed. Change in functional status was evaluated. Pooled estimates were calculated as the mean difference (MD) and 95 % confidence interval relative to baseline. The meta-analyses of RCTs and NRSI were conducted separately.

Results

of the 4599 retrieved articles, 164 were included in the review and, considering all the established timepoints, 111 (38 RCTs and 73 NRSI) were selected for the meta-analysis. Only one article described patients with inflammatory arthritis. In the meta-analysis of RCTs, one month after the procedure, MD in VAS was -3.98 (-4.41 to -3.55; k = 21) for knee RFA, and -3.18 (-3.96 to -2.39; k = 8) for sacroiliac joints RFA. In the meta-analysis of NRSI, MD in VAS was -4.12 (-4.63 to -3.61; k = 23) for knee RFA, -3.84 (-4.77 to -2.92; k = 7) for knee TAE, -4.34 (-4.96 to -3.71; k = 2) for hip RFA, -3.83 (-4.52 to -3.15; k = 3) for shoulder RFA and -4.93 (-5.58 to -4.28; k = 14) for sacroiliac joints RFA. Significant decrease in pain intensity was found also at 3, 6 and 12 months. Additionally, functional status improved at all the assessed timepoints.

Conclusion

minimally invasive interventional procedures can improve pain and functional status of patients affected by OA or chronic sacroiliac pain of degenerative origin. Further research is warranted in the field of inflammatory rheumatic diseases.

目的:总结射频消融术(RFA)和经导管动脉栓塞术(TAE)等微创介入手术对骨关节炎或炎症性关节炎患者疗效的证据。方法:在 PubM 和 Web Science 数据库中进行了文献检索,纳入了随机对照试验 (RCT) 和非随机干预研究 (NRSI)。研究结果按照治疗的解剖部位进行分类:膝关节、髋关节、足踝关节、肩关节、手和腕关节、骶髂关节。提取了有关疗效的数据。主要结果是使用0-10视觉模拟量表(VAS)测量疼痛强度从基线到1个月的变化。此外,还对 3 个月、6 个月和 12 个月的时间点进行了评估。还评估了功能状态的变化。相对于基线的汇总估计值计算为平均差(MD)和 95% 的置信区间。结果:在检索到的 4599 篇文章中,164 篇被纳入综述,考虑到所有已确定的时间点,111 篇(38 篇 RCT 和 73 篇 NRSI)被选中进行荟萃分析。只有一篇文章描述了炎症性关节炎患者的情况。在 RCT 的荟萃分析中,膝关节 RFA 术后一个月的 VAS MD 为-3.98(-4.41 至-3.55;k = 21),骶髂关节 RFA 术后一个月的 VAS MD 为-3.18(-3.96 至-2.39;k = 8)。在 NRSI 的荟萃分析中,膝关节 RFA 的 VAS MD 为 -4.12 (-4.63 to -3.61; k = 23),膝关节 TAE 为 -3.84 (-4.77 to -2.92; k = 7),骶髂关节 RFA 为 -4.34 (-4. 96 to -3.71; k = 8)。96至-3.71;k=2),肩关节RFA为-3.83(-4.52至-3.15;k=3),骶髂关节RFA为-4.93(-5.58至-4.28;k=14)。在 3 个月、6 个月和 12 个月时,疼痛强度也明显降低。结论:微创介入治疗可改善OA或慢性骶髂关节退行性疼痛患者的疼痛和功能状态。在炎症性风湿病领域还需要进一步研究。
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引用次数: 0
期刊
Seminars in arthritis and rheumatism
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