Pediatric Rheumatology最新文献_第6页

Proceedings of the 2024 Childhood Arthritis and Rheumatology Research Alliance (CARRA) Annual Scientific Meeting 2024 年儿童关节炎和风湿病学研究联盟（CARRA）年度科学会议论文集

IF 2.5 3区医学 Q1 PEDIATRICS

Pediatric Rheumatology

Pub Date : 2024-09-13 DOI: 10.1186/s12969-024-00998-w

<h3>Katherine Nowicki1, Nathan Rogers2, Carson Keeter3, Nathan Donaldson1, Jennifer Soep1, Yongdong Zhao4</h3><h4>1University of Colorado, Children’s Hospital Colorado; 2Children’s Hospital Colorado; 3University of Colorado; 4Seattle Children’s Hospital</h4><h5>Correspondence: Katherine Nowicki</h5>Pediatric Rheumatology 2024, 22(S1):A1 Background: Chronic Nonbacterial Osteomyelitis (CNO) is characterized by sterile inflammatory bone lesions and most commonly affects skeletally immature children. Non-steroidal anti-inflammatory drugs (NSAIDs) are the first-line treatment, but in some cases second-line treatments including methotrexate, TNF-alpha inhibitors, and bisphosphonates are required. It remains unclear which patients are most likely to respond to NSAIDs or require a second-line treatment based on their initial presentation. In this study, we sought to describe our CNO cohort and to determine which clinical variables are associated with response to NSAID monotherapy versus requiring a second-line medication.Methods : A retrospective chart review of patients with a diagnosis of CNO made before 18 years of age who attended the CNO clinic at Children’s Hospital Colorado between 1/1/05 and 1/31/22 was performed. The standardized treatment approach involved 6 months of NSAIDs, followed by a trial of discontinuation in responders. Patients who failed the discontinuation trial were given a longer NSAID course. Patients with spinal involvement, patients with comorbidities such as psoriasis or inflammatory bowel disease, and NSAID-non-responders were treated with second-line therapies. Clinical characteristics were recorded, including which of 6 regions (head and face, neck and back, upper torso, upper extremities, lower torso, lower extremities) were affected by CNO. Patients were divided into three groups: NSAID-short (NSAID monotherapy for 3 to < 7 months), NSAID-long (NSAID monotherapy for ≥7 months), or second-line treatment. A multiple linear regression model was constructed to determine the relationship between total NSAID monotherapy days and relevant predictors. Multiple logistic regression was used to determine the odds of needing second-line treatment when considering those same predictors. Both models contained combinations of variables which minimized the Akaike Information Criteria (AIC), resulting in models with low multicollinearity and high predictive power.Results : 164 patients fulfilled inclusion criteria and 70 patients were excluded. Cohort characteristics overall and for each of the 3 treatment groups are presented in Table 1. Comparison between the NSAID-short and NSAID-long groups showed that patients with unifocal disease at diagnosis required 47% less days of NSAID treatment than those with multifocal disease at diagnosis (Table 2). Comparison of the NSAID mon

在儿童期发病的系统性红斑狼疮（cSLE）患者中，心肺功能障碍很常见，并且与抑郁症状、疾病损害、疼痛、睡眠障碍和疲劳有关。除了这些不良后果外，确定促进 EF 的因素以制定有效的干预措施也很重要。复原力越来越被认为是健康结果的保护因素，它被定义为一个人从逆境中承受或迅速恢复的能力。本研究考察了儿科系统性红斑狼疮队列中EF与复原力之间的关联。方法：2020年1月至2023年9月期间，来自一家大型三甲医院系统性红斑狼疮门诊的10-17岁系统性红斑狼疮青少年横断面样本参与了本研究。所有患者均符合 ACR 和/或 SLICC 系统性红斑狼疮分类标准。参与者填写了《执行功能行为评定量表第二版》（BRIEF-2），这是一份评估执行功能三个领域的标准化问卷：情绪调节（如控制强烈情绪）、认知调节（如计划和组织）和行为调节（如控制冲动）。康纳-戴维森复原力量表 10 项（CD-RISC 10）和儿童与青少年复原力测量修订版（CYRM-R）也分别用于测量个人心理复原力（即从逆境中 "反弹 "的情绪）和社会生态复原力（如与家庭和社区的联系感）。我们使用单独的多变量回归模型研究了 CD-RISC 10 或 CYRM-R 评分与 EF 各领域之间的关联，并对病程进行了调整。结果：25名患有系统性红斑狼疮的青少年（80%为女性）完成了BRIEF-2、CYRM-R和CD-RISC 10的测试，他们的平均年龄为15.2岁（SD=1.8）；平均病程为33.0个月（SD=31.2），48%患有活动性疾病（SLEDAI-2K >4）（见表1）。我们发现，较高的心理复原力与较少的认知调节困难显著相关（β = -.443, 95% CI -2.23, -.10, p=0.03）。较高的社会生态复原力与较少的认知调节困难之间存在一种趋势（β = -.419, 95% CI -2.14, .05, p=0.06）。疾病持续时间与 EF 没有明显关系。见表 2.结论在这一小群患有系统性红斑狼疮的青少年中，较高的自我心理复原力与较少的认知调节领域的EF困难有关，社会生态复原力与认知调节之间也存在类似的关联趋势。我们需要在更大的样本中进一步研究如何促进患有系统性红斑狼疮的青少年获得最佳的EF并提高他们的抗逆力，从而达到提高生活质量和疾病自我管理的目的。IRB声明：本项目已获得病童医院研究伦理委员会的批准（REB #1000078857）。表1（摘要A55）总样本的人口统计学和临床特征（n=25）全尺寸表表2（摘要A55）复原力与执行功能域之间关联的多变量回归分析全尺寸表Emily Smitherman1、Julia Harris2、Aimee Hersh3、Jennifer Huggins4、Livie Huie1、Jon Burnham51美国阿拉巴马大学伯明翰分校；2Children's Mercy Kansas City, Kansas City, MO, USA; 3University of Utah, Salt Lake City, UT, USA; 4Cincinnati Children's Medical Center, Cincinnati, OH, USA; 5Children's Hospital of Philadelphia, Philadelphia, PA, USACorrespondence：Emily SmithermanPediatric Rheumatology 2024, 22(S1):A56背景：在系统性红斑狼疮（cSLE）患儿中，狼疮低疾病活动状态（LLDAS）的实现与较少的器官损伤、较少的疾病复发以及健康相关生活质量的改善有关。此前还没有研究对狼疮疾病活动度收集在现实世界中的实施情况进行过评估。我们的目标是评估在儿科风湿病诊所实施狼疮目标治疗策略的可接受性、适当性和可行性。方法：儿科狼疮理解系统（PLUS）合作组织由位于美国学术医疗中心附属儿童医院的 5 个儿科风湿病站点组成。我们制定了 5 项 cLLDAS 标准（表 1），以便在就诊时进行收集，并计划在实施阶段 1 跟踪每月在系统性红斑狼疮就诊时收集各项标准的情况。我们使用 "干预可接受性测量"、"干预适当性测量 "和 "干预可行性测量 "完成了基线实施评估。每项测量包括 4 个领域，采用 1-5 级李克特量表进行评估（1=完全不同意，5=完全同意）。每个领域均计算平均值。还确定了收集 cLLDAS 标准的障碍。虽然 90% 的风湿病医疗机构审查了疫苗接种情况，但只有不到一半的医疗机构审查了季节性疫苗或肺炎球菌疫苗，而审查的医疗机构主要是在特定疾病、特定药物或新患者就诊时审查疫苗接种情况。我们的研究结果凸显了通过提高对接种疫苗预防可预防感染的必要性的认识来改善 ICC 护理的机会。本研究强调了在 ICC 中采用标准化疫苗接种方法和改善医疗服务提供者之间沟通的必要性，以最大限度地提高 ICC 的免疫机会：图1（摘要A66）参见正文描述。全尺寸图片Daniella Schocken1、Kathleen Carluzzo2、Susmita Kashikar-Zuck1、Erin Knight2、Andrea Ring3、Jennifer Weiss4、Karen Schifferdecker5，代表 CARRA 疼痛委员会61Cincinnati Children's Hospital Medical Center，Cincinnati，OH，USA；2Center for Program Design and Evaluation，Geisel School of Medicine，Dartmouth College，Hanover，NH，USA；3Arthritis Foundation, Atlanta, GA, USA; 4Hackensack University Medical Center, Hackensack, NJ, USA; 5The Dartmouth Institute for Health Policy and Clinical Practice, Geisel School of Medicine, Dartmouth College, Hanover, NH, USA; 6Childhood Arthritis and Rheumatology Research Alliance (CARRA) Correspondence：Daniella SchockenPediatric Rheumatology 2024, 22(S1):A67背景：人们对幼年关节炎（JA）的疼痛和其他症状的负担仍然知之甚少。为了更好地阐明幼年关节炎患者及其护理者的症状严重程度和健康相关生活质量（HRQOL），研究中越来越多地采用患者报告结果测量法（PROMs）。本研究旨在通过在一项基于社区的照护者调查中实施 PROMs，了解对关节炎患儿来说最重要的疼痛和相关健康问题。方法：混合方法设计和以患者为中心的方法以前曾用于评估成人关节炎患者的 HRQOL（Schifferdecker，2020 年），确定了相关的有效 PROMs，并

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引用次数: 0

Protracted febrile myalgia syndrome in children with familial Mediterranean fever – systematic review and a case report 家族性地中海热患儿的持续发热性肌痛综合征--系统综述和病例报告

IF 2.5 3区医学 Q1 PEDIATRICS

Pediatric Rheumatology

Pub Date : 2024-09-10 DOI: 10.1186/s12969-024-01019-6

Toni Hospach, Friederike Blankenburg, Anita Heinkele, Thekla von Kalle, Yosef Uziel, Tillmann Kallinich, Kristina Rücklová

Protracted febrile myalgia syndrome (PFMS) is a rare manifestation of familial Mediterranean fever (FMF), characterized by myalgia, fever and elevated inflammatory markers lasting several weeks. As the hallmark of FMF are short episodes of disease symptoms, the long duration of PFMS may lead to a delayed diagnosis and treatment. 1. To perform a review of literature and rheumatology textbooks focused on clinical features and treatment of PFMS in children. 2. To present our own case. All articles in Pub Med generated using the keywords “protracted febrile myalgia” and information on PFMS in seven rheumatology textbooks were collected. The systematic review was supplemented with our own case presentation. In total, 18 articles with 78 pediatric patients (including our own) were retrieved. More than half of the patients presented with PFMS as the first manifestation of FMF. All complained of myalgia, 65% of abdominal pain and 26% had a rash. Corticosteroids (CS) were effective in 77%. In all CS-refractory cases, anakinra was shown efficient. MRI was used in 5 patients and showed myositis in all of them. The scrutiny of seven rheumatology textbooks showed that PFMS presenting with myalgia was mentioned in six. Possible accompanying symptoms were described only once, the long duration of symptoms twice, the efficacy of corticosteroids three times and anakinra only once. The presented 6 year old patient manifested with fever, myalgia, abdominal pain and petechial rash lasting 6 weeks. She had undergone multiple diagnostic procedures before her parents mentioned a positive family history for FMF. The subsequent genetic testing confirmed a homozygosity for M694V pathogenic variant in the MEFV gene. The long duration of PFMS may be misleading to clinicians especially if PFMS occurs at manifestation of FMF. The fact that more than half of the reported patients experienced PFMS as the presenting symptom of FMF is one of the key findings of our study. Our case presentation demonstrates the importance of genetic testing early in suspected autoinflammatory diseases. Furthermore, MRI may be an important diagnostic tool showing myositis in PFMS.

持续发热性肌痛综合征（PFMS）是家族性地中海热（FMF）的一种罕见表现，以持续数周的肌痛、发热和炎症指标升高为特征。由于 FMF 的特征是疾病症状发作时间短，因此 PFMS 持续时间长可能会导致诊断和治疗延误。1.对文献和风湿病学教科书进行回顾，重点关注儿童 PFMS 的临床特征和治疗。2.介绍我们自己的病例。收集了以 "持久发热性肌痛 "为关键词在 Pub Med 上发表的所有文章，以及七本风湿病学教科书中有关 PFMS 的信息。在系统性综述的基础上，我们对自己的病例进行了补充。共检索到 18 篇文章，涉及 78 名儿科患者（包括我们自己的患者）。半数以上的患者以 PFMS 作为 FMF 的首发表现。所有患者均主诉肌痛，65%主诉腹痛，26%主诉皮疹。皮质类固醇（CS）对77%的患者有效。在所有CS难治性病例中，阿那金拉均显示有效。对 5 名患者使用了核磁共振成像，结果显示所有患者都出现了肌炎。对七本风湿病学教科书的仔细研究表明，有六本教科书提到了出现肌痛的 PFMS。可能的伴随症状只出现过一次，症状持续时间长出现过两次，皮质类固醇的疗效出现过三次，而阿纳金拉只出现过一次。这位 6 岁的患者表现为发热、肌痛、腹痛和瘀斑性皮疹，持续 6 周。在她的父母提到其家族有 FMF 阳性病史之前，她已经接受了多种诊断程序。随后的基因检测证实，她的 MEFV 基因存在 M694V 致病变异。PFMS 的持续时间较长，可能会误导临床医生，尤其是当 PFMS 发生在 FMF 出现时。半数以上的报告患者以 PFMS 作为 FMF 的首发症状，这是我们研究的主要发现之一。我们的病例展示了对疑似自身炎症性疾病进行早期基因检测的重要性。此外，核磁共振成像可能是显示 PFMS 肌炎的重要诊断工具。

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引用次数: 0

Proceedings of the 31st European Paediatric Rheumatology Congress: part 2 第 31 届欧洲儿科风湿病大会论文集：第二部分

IF 2.5 3区医学 Q1 PEDIATRICS

Pediatric Rheumatology

Pub Date : 2024-09-09 DOI: 10.1186/s12969-024-01005-y

<h3>JIA (oligo, poly, psoriatic)</h3><h4>P177 Investigation of functionality, participation, and biopsychosocial status of individuals with JIA according to disease activity</h4><h5>Orkun Tüfekçi1, Sinan Buran2, Nur B. Karaca1, Emil Aliyev3, Yağmur Bayındır3, Yelda Bilginer3, Edibe Ünal2, Seza Özen3</h5><h6>1Department of Basic Physiotherapy and Rehabilitation, Hacettepe University Institute of Health Sciences; 2Department of Heart and Respiratory Physiotherapy and Rehabilitation, Hacettepe University Faculty of Physical Therapy and Rehabilitation; 3Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Türkiye</h6><h5>Correspondence: Orkun Tüfekçi</h5>Pediatric Rheumatology 2024, 22(2): PReS24-ABS-1330 Introduction: The relationship between disease activity status in JIA and the functionality, participation, and psychosocial status of these individuals has been emphasized. However, upon reviewing the literature, the need for evaluation of disease activity status in JIA in these aspects is reported (1, 2).Objectives: This study aimed to investigate the functionality, participation, and biopsychosocial status of individuals with JIA according to disease activity.Methods: Our study included fifty individuals (31 girls, 19 boys) diagnosed with JIA, of whom 35 had oligoarticular and 15 had polyarticular JIA, and who were followed up with routine controls. Demographic information of the participants was documented, and disease activity status was assessed using the Juvenile Arthritis Disease Activity Score in 71 joints (JADAS-71). Functionality was measured using the Childhood Health Assessment Questionnaire (CHAQ), participation was evaluated using the Child and Adolescent Scale of Participation (CASP), and biopsychosocial status was examined using the Juvenile Arthritis Biopsychosocial Questionnaire (JAB-Q). Disease activity was categorized based on the JADAS-71 score: ≤1 indicated inactive disease, while >10.5 indicated high disease activity (3). Group characteristics were compared using the Mann-Whitney U test.Results: Demographic characteristics of inactive and high disease activity JIA patients were similar (p>0.05). CHAQ pain, general well-being, and total score, CASP home participation and total score, JAB-Q-child disease activity, joint, functionality, fatigue, and total scores were significantly better in favor of the inactive group; ESR value and number of affected active joints were higher in individuals with high disease activity (p<0.05).Conclusion: This study showed that individuals with JIA exhibiting high disease activity were more affected in functionality, participation, and biopsychosocial status compared to those with inactive disease. The findings of this s

JIA（少发型、多发型、银屑病型）P177 根据疾病活动性调查JIA患者的功能、参与和生物心理社会状况Orkun Tüfekçi1, Sinan Buran2, Nur B. Karaca1, Emil Aliyev3, Yağmur Bayındır3, Yelda Bilginer3, Seza ÖzenDepartment3, Edibe Ünal3。Karaca1、Emil Aliyev3、Yağmur Bayındır3、Yelda Bilginer3、Edibe Ünal2、Seza Özen31哈杰泰佩大学健康科学学院基础物理治疗与康复系；哈杰泰佩大学物理治疗与康复学院心脏与呼吸物理治疗与康复系；哈杰泰佩大学医学院风湿病学系儿科，安卡拉，图尔基耶通信：Orkun TüfekçiPediatric Rheumatology 2024, 22(2)：PReS24-ABS-1330引言：人们一直在强调 JIA 的疾病活动状态与这些患者的功能、参与和社会心理状态之间的关系。然而，在对文献进行回顾后发现，需要从这些方面对 JIA 的疾病活动状态进行评估（1, 2）：本研究旨在根据疾病活动性调查 JIA 患者的功能、参与和生物心理社会状态：我们的研究包括50名确诊为JIA的患者（31名女孩，19名男孩），其中35人患有少关节型JIA，15人患有多关节型JIA。研究人员记录了参与者的人口统计学信息，并使用 71 个关节的幼年关节炎疾病活动度评分（JADAS-71）对疾病活动度进行了评估。功能状况通过儿童健康评估问卷（CHAQ）进行测量，参与度通过儿童和青少年参与度量表（CASP）进行评估，生物心理社会状况通过青少年关节炎生物心理社会问卷（JAB-Q）进行检查。疾病活动度根据 JADAS-71 评分进行分类：≤1 表示疾病不活跃，而>10.5 表示疾病活动度高(3)。采用 Mann-Whitney U 检验比较各组特征：结果：非活动性和高疾病活动性 JIA 患者的人口统计学特征相似（p>0.05）。CHAQ疼痛、一般幸福感及总分、CASP家庭参与及总分、JAB-Q-儿童疾病活动度、关节、功能、疲劳及总分均显著优于非活动组；疾病活动度高者的ESR值和受累活动关节数均更高（p<0.05）：本研究表明，疾病活动度高的JIA患者与疾病活动度低的患者相比，在功能、参与和生物心理社会状态方面受到的影响更大。本研究结果表明，在对疾病活动度高的 JIA 患者进行疾病管理时，应考虑这些因素。出生日期：0 年 11 月患者同意书不适用（没有患者数据）利益披露未声明参考文献1.Taxter AJ、Wileyto EP、Behrens EM、Weiss PF。幼年特发性关节炎不同类别的患者报告结果》（Patient-reported Outcomes across categories of Juvenile Idiopathic Arthritis.风湿病学杂志》。2015;42(10):1914-21.2.Unal E, Batu ED, Sonmez HE, Arici ZS, Arin G, Karaca NB, et al. A new biopsychosocial and clinical questionnaire to assess juvenile idiopathic arthritis：JAB-Q。国际风湿病学》。2018;38(8):1557-64.3.Weiss PF, Beukelman T, Schanberg LE, Kimura Y, Colbert RA.与其他类型的幼年特发性关节炎相比，肌腱炎相关关节炎伴有更高的疼痛强度和更差的健康状况：儿童关节炎和风湿病学研究联盟登记》。风湿病学杂志》。2012;39(12):2341-51.JIA（寡聚型、多聚型、银屑病型）P178 儿童幼年特发性关节炎患者体内甲氨蝶呤多聚谷氨酸浓度及与临床反应的关系Marta Klanjscek1, Paolo Dalla Zuanna1, 2、Martina Franzin3, Andrea Taddio1, 3, Serena Pastore3, Giuliano Ponis3, Gilda Paternuosto3, Riccardo Addobbati3, Gabriele Stocco1, 31的里雅斯特大学医学、外科和健康科学系，的里雅斯特；2Clinical and Experimental Pharmacology, Centro di Riferimento Oncologico di Aviano, Aviano; 3IRCCS Burlo Garofolo, Trieste, Italy通讯：Paolo Dalla ZuannaPediatric Rheumatology 2024, 22(2)：PReS24-ABS-1580引言：甲氨蝶呤（MTX）是治疗幼年特发性关节炎（JIA）的一线药物之一。遗憾的是，约 35% 的患者对 MTX 没有反应。为实现 MTX 治疗的个性化，必须进行治疗药物监测，量化 MTX 及其多谷氨酸活性代谢物（MTX-PG1-7）的红细胞水平。长链多谷氨酸盐（MTX-PG3-5）的水平似乎与较低的疾病活动度相关。结论与系统性红斑狼疮相比，青少年系统性红斑狼疮患者存在以下差异：以前的日照是疾病发生的诱因；更容易发生狼疮性肾炎和中枢神经系统受累，甚至在发病时也是如此；大量患者（高达72%）的器官受到不可逆损伤，损伤指数更高。系统性红斑狼疮和抗磷脂综合征P407 血清学阴性的幼年狼疮样：A clinical dilemma and diagnostic challengeAlhanouf Alsharif 1, Abdulaziz Almutairi2, Emtenan Basahl1, Jameela Kari3, Abdulaziz Alshathri4, Mohammed Shalaby3, Mohammed Nashawi51Faculty of Medicine, King AbdulAziz University, Jeddah, 2Pediatric Rheumatology、3Pediatric Nephrology, King AbdulAziz University, Jeddah, 4Pediatric Nephrology, King Saud Medical City, Riyadh, 5Pediatric Rheumatology, King AbdulAziz University, Jeddah, Saudi ArabiaCorrespondence：Alhanouf AlsharifPediatric Rheumatology 2024, 22(2)：PReS24-ABS-1103引言：系统性红斑狼疮（SLE）是一种可影响多个器官的自身免疫性疾病。幼年型系统性红斑狼疮（jSLE）可能比成年型系统性红斑狼疮更为严重，但由于病情复杂且与其他疾病相似，诊断和分类仍具有挑战性。抗核抗体（ANA

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引用次数: 0

Prevalence of spine pain among Tunisian children and adolescents and related factors 突尼斯儿童和青少年脊柱疼痛的患病率及相关因素

IF 2.5 3区医学 Q1 PEDIATRICS

Pediatric Rheumatology

Pub Date : 2024-09-09 DOI: 10.1186/s12969-024-01007-w

Alia Fazaa, Ines Cherif, Saoussen Miladi, Hiba boussaa, Yasmine makhlouf, Kaouther ben abdelghani, Ahmed laatar

The prevalence of back and neck pain is common in children and adolescents, and in some series the numbers are alarming. Various risk factors have been identified, although some are controversial. To determine the prevalence of neck and back pain in children and adolescents and to investigate the potential association with various risk factors identified in the literature. We established a questionnaire targeting parents of children and adolescents aged between 6 and 18 years old in Tunisia. The recruitment of participants was done online using the Google Forms application. The questionnaire was divided into 2 parts: Part one collected the sociodemographics characteristics of the participants : age, gender, body mass index (BMI), exposure to passive smoking, the practice of a physical activity, puberty status and age at puberty if applicable, type and weight of the schoolbag, mean daily time spent on electronic devices, type of school the child attends (private/public), mode of transport from home to school, parental history of neck and/or back pain (mid or low back pain (LBP)), posture of the sitting position of the child, and finally whether the child reports neck/ back pain. The second part was aimed at parents whose child reported neck and/or back pain. We asked about the weekly frequency of neck/back pain, school absenteeism due to neck/back pain, whether it prevented the child from practicing physical activity and, finally, whether the child had ever seen a doctor/chiropractor/physiotherapist for their neck/back pain. Eighty-eight children (45 females, 43 males) were enrolled. Mean age was 11.9 ± 3.8 years [6–18]. Mean BMI was 18.8 ± 4.2 [15.8–35.5]. Thirty-four (38.6%) were pubescent. Twenty-five (28.4%) children were exposed to passive smoking. Parental history of spine pain was found in 58% of cases. A poor sitting position was noted in n = 49 (55.7%). Mean daily screen time was 88.3 ± 75.56 min [0-360]. Prevalence of spine pain was 44% (n = 39) distributed as follows: neck pain (n = 21, 23.8%), mid back pain (n = 15, 17%), LBP (n = 26, 29.5%), neck, mid back and low back pain (n = 4, 4.5%) Professional help seeking for spine pain in children was reported by 15 participants (25.3%). Among them, 20.3% visited a physician and 5% consulted a chiropractor or physiotherapist. A significant correlation was found between spine pain and age (p = 0.006) and BMI (p = 0.006). A significant association was found between LBP and exposure to passive smoking, puberty status, type of school bag and poor posture. A positive parental history of spine pain was significantly associated with the presence of spine pain in their children with p = 0.053 (neck pain), p = 0.013 (back pain) and p < 0.00 (LBP) respectively. A significant association was found between the presence of spine pain and school absenteeism, participation in sports, consultation with a doctor or physiotherapist/chiropractor (p < 0.0001 respectively). The prevalence of spinal pain was frequ

背痛和颈部疼痛在儿童和青少年中很常见，在某些系列中，这一数字令人震惊。目前已发现各种风险因素，但其中一些尚存争议。为了确定儿童和青少年颈背部疼痛的发病率，并调查其与文献中确定的各种风险因素之间的潜在关联。我们针对突尼斯 6 至 18 岁儿童和青少年的父母进行了问卷调查。我们使用谷歌表格应用程序在线招募参与者。问卷分为两部分：第一部分收集了参与者的社会人口学特征：年龄、性别、体重指数（BMI）、被动吸烟情况、体育锻炼情况、青春期状况和青春期年龄（如适用）、书包的类型和重量、每天花在电子设备上的平均时间、孩子就读的学校类型（私立/公立）、从家到学校的交通方式、父母的颈部和/或背部疼痛史（中背痛或腰背痛（LBP））、孩子的坐姿，以及孩子是否报告颈部和/或背部疼痛。第二部分的调查对象是有孩子报告颈部和/或背部疼痛的家长。我们询问了孩子每周出现颈部/背部疼痛的频率、因颈部/背部疼痛而旷课的情况、是否因此而无法进行体育锻炼，最后还询问了孩子是否曾因颈部/背部疼痛而看医生/按摩师/理疗师。共有 88 名儿童（45 名女性，43 名男性）参加了调查。平均年龄为 11.9 ± 3.8 岁 [6-18]。平均体重指数为 18.8 ± 4.2 [15.8-35.5]。34名儿童（38.6%）处于青春期。25名（28.4%）儿童接触过被动吸烟。58%的病例父母有脊柱疼痛病史。49名儿童（55.7%）的坐姿不良。平均每天使用屏幕的时间为 88.3 ± 75.56 分钟 [0-360]。脊柱疼痛的患病率为 44%（n = 39），分布如下：颈部疼痛（n = 21，23.8%），中背部疼痛（n = 15，17%），腰背痛（n = 26，29.5%），颈部、中背部和腰背部疼痛（n = 4，4.5%）。 15 名参与者（25.3%）报告了儿童脊柱疼痛的专业求助。其中，20.3%的人看了医生，5%的人咨询了脊骨神经科医生或物理治疗师。脊柱疼痛与年龄（p = 0.006）和体重指数（p = 0.006）之间存在明显的相关性。研究还发现，枸杞痛与被动吸烟、青春期状况、书包类型和不良姿势之间存在明显关联。父母脊柱疼痛史阳性与子女脊柱疼痛显著相关，分别为 p = 0.053（颈部疼痛）、p = 0.013（背部疼痛）和 p < 0.00（枸杞痛）。脊柱疼痛与旷课、参加体育运动、看医生或理疗师/按摩师之间存在明显关联（p 分别小于 0.0001）。在我们的系列研究中，脊柱疼痛的发病率很高。父母有脊柱疼痛病史、不良坐姿、被动吸烟、使用背包、年龄较大和体重指数较高是潜在的相关因素。

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引用次数: 0

Proceedings of the 31st European Paediatric Rheumatology Congress: part 1 第 31 届欧洲儿科风湿病大会论文集：第一部分

IF 2.5 3区医学 Q1 PEDIATRICS

Pediatric Rheumatology

Pub Date : 2024-09-09 DOI: 10.1186/s12969-024-01004-z

<h3>Autoinflammatory diseases</h3><h4>OR01 Assessment of ADA2 activity levels: report from the Italian study group on DADA2</h4><h5>Alessia Cafaro1, Roberta Caorsi2, Enrico Drago3, Alice Grossi4, Sebastiano Barco1, Chiara Conti3, Flippo Maestrini5, Maurizio Miano6, Francesca Fioredda6, Maria Carla Giarrattana6, Federica Brazaghi7, Michela Lupia6, Stefano Volpi2, 3, Riccardo Papa2, Francesca Schena2, Alessandra Mortellaro7, Isabella Ceccherini4, Alessandro Aiuti7, Carlo Dufour6, Giuliana Cangemi1, Marco Gattorno2 and Italian study group on DADA2</h5><h6>1Central Laboratory of Analysis; 2Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini; 3DINOGMI, University of Genova; 4Genetics of Rare Diseases, IRCCS Istituto Giannina Gaslini; 5University of Genova; 6Hematology, IRCCS Istituto Giannina Gaslini, Genova; 7IRCCS Ospedale San Raffaele, Milano, Italy</h6><h5>Correspondence: Roberta Caorsi</h5>Pediatric Rheumatology 2024, 22(2):PReS24-ABS-1499 Introduction: Adenosine Deaminase 2 deficiency (DADA2) is a rare monogenic autoinflammatory disease resulting from loss-of-function mutations in ADA2. Functional assays are crucial for early diagnosis. In 2021, we introduced a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method to assess ADA2 activity from dried plasma spot (DPS) [1].Objectives: To define cut-offs of ADA2 activity in the normal population and to assess the test’s utility in a large multicentre real-life cohort of patients with suspected DADA2.Methods: At first, ADA2 activity was tested in 17 patients with genetically confirmed DADA2, 23 clinically healthy and genetically confirmed carriers, and 132 healthy donors. The test was then performed in 19 new diagnoses of DADA2 later confirmed genetically, 4 carriers subsequently confirmed genetically, 195 patients with other related conditions. Receiver Operating Curves (ROC) analysis evaluated the diagnostic performance of ADA2 activity in DPS. Spearman correlation coefficients were employed to investigate the relations between ADA2 activity in DPS and age. Significance was determined at a threshold of P<0.05 for all analyses, with two-tailed tests utilized.Results: ADA2 activity in DPS effectively discriminated patients with DADA2 from carriers (AUC=0.946, P<0.001) and carriers from patients with suspected but non-DADA2 conditions (AUC=0.890, P<0.001) with high sensitivity and specificity. A significant inverse correlation existed between DADA2 activity in DPS and age (P<0.0001). The ADA2 activity cut-off values in DPS were identified as follows: ≤ 0.09 mU/mL for p

6 小时后，收集上清液并冷冻至 -80°C 以备进一步分析。由于我们使用了针对不同细胞因子的不同生物 DMARDs，因此我们决定使用细胞培养物上清液中的 S100A8/9 水平作为实验设置的读数。我们采用夹心酶联免疫吸附法对 S100A8/9 进行定量。我们首先比较了托西珠单抗、卡那库单抗和托法替尼对同型秋水仙碱反应性 FMF 患者和秋水仙碱耐药性 FMF 患者的效果。在第二种情况下，我们比较了甲氨蝶呤、依那西普、secukinumab、托西珠单抗、卡那库单抗和托法替尼对同型秋水仙碱敏感的FMF患者和伴有SpA的FMF患者的疗效：我们首先检测了不同的DMARDs（托西珠单抗、卡那库单抗和托法替尼）是否会影响对秋水仙碱有反应和有耐药性的同种FMF患者的PBMCs产生S100A8/A9。所有 DMARDs 都会导致所有培养物中 S100A8/A9 的产生减少。在耐秋水仙碱组（25.7%）中，卡纳库单抗的效果最显著；托法替尼的效果（12.6%）比托西珠单抗（4.2%）更明显。在对秋水仙碱有反应的同基因 FMF 组（26%）中，托西珠单抗的效果更为明显。令人惊讶的是，托法替尼降低了对秋水仙碱有反应组（15.5%）和耐药组（12.6%）的 S100A8/A9 水平。我们接下来评估了不同的 DMARDs（Mtx、etanercept、secukinumab、tocilizumab、canakinumab 和 tofacitinib）是否会影响同种 FMF 患者（对秋水仙碱有反应）和患有 SpA 的 FMF 患者的 PBMC 的 S100A8/A9 生成。除托珠单抗外，所有 DMARDs 都会导致所有培养物中 S100A8/A9 的产生减少。在所有DMARDs中，secukinumab对FMF+SpA患者的炎症减轻效果最明显（33.3%），超过了对同基因FMF组的影响（11.3%）。此外，与同型FMF组相比，卡纳库单抗（24.1% vs 12%）、托法替尼（19.1% vs 15.5%）和甲氨蝶呤（7.4% vs 5.9%）也能更有效地减轻FMF+SpA组的炎症。相比之下，依那西普（etanercept）和托珠单抗（tocilizumab）在同基因 FMF 组中的疗效更好：结论：在体外实验中，JAK激酶抑制剂显示出抑制秋水仙碱耐药FMF患者炎症的潜力，但效果不如抗IL1治疗。研究结果表明，抗IL17和JAK激酶抑制剂可作为FMF合并SpA患者的潜在替代治疗方案，为管理对传统秋水仙碱治疗耐药或合并SpA的FMF患者提供了宝贵的见解。患者同意是，我收到了同意书利益披露无声明参考文献1.Nielsen, M.A., et al., Responses to Cytokine Inhibitors Associated with Cellular Composition in Models of Immune-Mediated Inflammatory Arthritis.ACR Open Rheumatol, 2020.2(1): p. 3-10.自身炎症性疾病P013 欧洲热FMF纵向队列：纵向数据更新Roberta Caorsi1、Marta Bustaffa1、Gayane Amaryan2、Romina Gallizzi3、Efimia Papadopoulou-Alataki4、Maria Carrabba5、Jordi Anton6、Luciana Breda7、Gabriele Simonini8、Jasmin Kuemmerle-Deschner9、Maria Alessio10、Donato Rigante11、Laura Obici12、G. PMID: 36456962自身炎症性疾病P021 DADA2（腺苷脱氨酶缺乏症 2）儿童和成人患者的疾病表现、治疗反应和预后：Roberta Caorsi1、Seza Ozen2、Antonella Insalaco3、Chiara Conti4、Joost Frenkel5、Nicola Ruperto6、Marco Gattorno1和儿科风湿病学国际试验组织（PRINTO）及欧洲发烧项目1意大利热那亚詹尼纳-加斯利尼研究所风湿病学和自身炎症性疾病；2Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turks and Caicos Islands; 3Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Roma; 4University of Genova, Genova, Italy; 5Pediatric rheumatology, University hospital of Utrecht, Utrecht, Netherlands; 6Trial Center, IRCCS Istituto Giannina Gaslini, Genova, ItalyCorrespondence：Roberta CaorsiPediatric Rheumatology 2024, 22(2):PReS24-ABS-1596引言：DADA2 是一种单基因自身炎症，临床表现广泛，从皮肤炎到严重的全身性血管炎，并伴有多器官受累、免疫缺陷和骨髓衰竭。目的：分析欧洲发热登记处登记的 DADA2 患者的数据。方法：分析的数据摘自 PRINTO 网站上的欧洲发热登记处。如果患者有符合 DADA2 的临床表现、确诊基因型或病理 ADA2 酶活性，则被纳入研究。研究分析了人口统计学数据、临床表现、治疗、安全性和结果：2024 年 5 月，欧洲热病登记中心获得了来自 23 个中心的 92 名 DADA2 患者（43 名男性：49 名女性）的基线和临床信息；其中 63 名患者的随访数据可用（平均随访时间为 2.8 年）。71 名患者（77%）的基因型得到确认，21 名患者的基因型未得到确认。17 名患者有阳性家族史（12 对兄弟姐妹被纳入登记册）。登记时的平均年龄为 12.5 岁（儿童患者 74 人，成人患者 18 人），发病时的平均年龄为 7.4 岁（标准差为 8.6 岁），确诊时的平均年龄为 15.2 岁（标准差为 12 岁），平均延迟时间为 8 年。81%的患者在病程中出现皮肤受累，58%出现神经系统受累，53%出现肌肉骨骼受累，41%出现胃肠道受累，38%出现淋巴器官受累，24%出现血液系统受累，17%出现心血管系统受累，14%出现眼部受累，5%出现泌尿生殖系统受累。34名患者使用了合成的DMARDS。分别用于 10 名和 3 名患者的硫唑嘌呤和环磷酰胺因疗效不佳而停用；用于 3 名患者的沙利度胺因副作用而停用。6名患者使用了霉酚酸莫非替酯，2名患者在最后一次随访时仍在使用，14名患者使用了甲氨蝶呤，8名患者在最后一次随访时仍在使用，其中5名患者与抗肿瘤坏死因子有关。76名患者（82%）接受了抗肿瘤坏死因子治疗：66名患者使用了依那西普（etanercept）（63名患者在最后一次随访时仍在使用），17名患者使用了阿达

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引用次数: 0

The assessment of bone health in children with juvenile idiopathic arthritis; comparison of different imaging-based methods. 评估幼年特发性关节炎患儿的骨骼健康状况；比较不同的成像方法。

IF 2.8 3区医学 Q1 PEDIATRICS

Pediatric Rheumatology

Pub Date : 2024-08-29 DOI: 10.1186/s12969-024-01018-7

Thomas Augdal, Oskar Angenete, Pia Zadig, Anette Lundestad, Ellen Nordal, Xieqi Shi, Karen Rosendahl

Background: Osteoporosis is increasingly being recognized in children, mostly secondary to systemic underlying conditions or medication. However, no imaging modality currently provides a full evaluation of bone health in children. We compared DXA, a radiographic bone health index (BHI (BoneXpert) and cone-beam CT for the assessment of low bone mass in children with juvenile idiopathic arthritis (JIA).

Methods: Data used in the present study was drawn from a large multicentre study including 228 children aged 4-16 years, examined between 2015 and 2020. All had a radiograph of the left hand, a DXA scan and a cone-beam CT of the temporomandibular joints within four weeks of each other. For the present study, we included 120 subjects, selected based on DXA BMD and BoneXpert BHI to secure values across the whole range to be tested.

Results: One hundred and twenty children (60.0% females) were included, mean age 11.6 years (SD 3.1 years). There was a strong correlation between the absolute values of BHI and BMD for both total body less head (TBLH) (r = 0.75, p < 0.001) and lumbar spine (L1-L4) (r = 0.77, p < 0.001). The correlation between BHI standard deviation score (SDS) and BMD TBLH Z-scores was weak (r = 0.34) but significant (0 = 0.001), varying from weak (r = 0.31) to moderate (r = 0.42) between the three study sites. Categorizing BHI SDS and DXA BMD Z-scores on a 0-5 scale yielded a weak agreement between the two for both TBLH and LS, with w-kappa of 0.2, increasing to 0.3 when using quadratic weights. The agreement was notably higher for one of the three study sites as compared to the two others, particularly for spine assessment, yielding a moderate kappa value of 0.4 - 0.5. For cone-beam CT, based on a 1-3 scale, 59 out of 94 left TMJ's were scored as 1 and 31 as score 2 by the first observer vs. 87 and 7 by the second observer yielding a poor agreement (kappa 0.1).

Conclusions: Categorizing DXA LS and automated radiographic Z-scores on a 0-5 scale gave a weak to moderate agreement between the two methods, indicating that a hand radiograph might provide an adjuvant tool to DXA when assessing bone health children with JIA, given thorough calibration is performed.

背景：越来越多的人认识到儿童骨质疏松症的存在，这主要是由于系统性基础疾病或药物引起的。然而，目前还没有一种成像模式能全面评估儿童的骨骼健康状况。我们比较了 DXA、放射学骨健康指数（BHI，BoneXpert）和锥束 CT 对幼年特发性关节炎（JIA）患儿低骨量的评估：本研究使用的数据来自一项大型多中心研究，其中包括228名4-16岁的儿童，他们在2015年至2020年间接受了检查。所有儿童均在四周内接受了左手X光片、DXA扫描和颞下颌关节锥束CT检查。在本研究中，我们根据 DXA BMD 和 BoneXpert BHI 挑选了 120 名受试者，以确保整个测试范围内的数值：研究对象包括 120 名儿童（60.0% 为女性），平均年龄为 11.6 岁（标准差为 3.1 岁）。BHI的绝对值与全身减去头部（TBLH）的BMD之间存在很强的相关性（r = 0.75，p 结论：BHI的绝对值与BMD之间存在很强的相关性：将 DXA LS 和自动射线照相术 Z 评分按 0-5 级分类，两种方法之间的一致性为弱至中等，这表明在评估 JIA 儿童的骨骼健康时，如果进行了彻底校准，手部射线照相术可作为 DXA 的辅助工具。

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引用次数: 0

Genetic association of antinuclear antibodies with HLA in JIA patients: a Swedish cohort study. JIA 患者抗核抗体与 HLA 的遗传关联：一项瑞典队列研究。

IF 2.8 3区医学 Q1 PEDIATRICS

Pediatric Rheumatology

Pub Date : 2024-08-26 DOI: 10.1186/s12969-024-01017-8

Raya Saleh, Erik Sundberg, Mia Olsson, Katarina Tengvall, Lars Alfredsson, Ingrid Kockum, Leonid Padyukov, Helena Erlandsson Harris

Background: Juvenile Idiopathic Arthritis (JIA) is a complex autoimmune disease and the most common chronic rheumatological disease affecting children under the age of 16. The etiology of JIA remains poorly understood, but evidence suggests a significant genetic predisposition.

Methods: We analyzed a Swedish cohort of 329 JIA patients and 728 healthy adult controls using the Illumina OmniExpress array for genotyping. HLA alleles were imputed from GWAS data using the SNP2HLA algorithm.

Results: Case-control analysis yielded 12 SNPs with genome-wide significant association to JIA, all located on chromosome 6 within the MHC class II gene region. Notably, the top SNP (rs28421666) was located adjacent to HLA-DQA1 and HLA-DRB1. HLA-DRB1*08:01, HLA-DQA1*04:01, and HLA-DQB1*04:02 were the haplotypes most strongly associated with an increased risk of JIA in the overall cohort. When analyzing disease specific subtypes, these alleles were associated with oligoarthritis and RF-negative polyarthritis. Within the complex linkage disequilibrium of the HLA-DRB1-DQA1-DQB1 haplotype, our analysis suggests that HLA-DRB1*08 might be the primary allele linked to JIA susceptibility. The HLA-DRB1*11 allele group was also independently associated with JIA and specifically enriched in the oligoarthritis patient group. Additionally, our study revealed a significant correlation between antinuclear antibody (ANA) positivity and specific HLA alleles. The ANA-positive JIA group showed stronger associations with the HLA-DRB1-DQA1-DQB1 haplotype, HLA-DRB1*11, and HLA-DPB1*02, suggesting a potential connection between genetic factors and ANA production in JIA. Furthermore, logistic regression analysis reaffirmed the effects of HLA alleles, female sex, and lower age at onset on ANA positivity.

Conclusions: This study identified distinct genetic associations between HLA alleles and JIA subtypes, particularly in ANA-positive patients. These findings contribute to a better understanding of the genetic basis of JIA and provide insights into the genetic control of autoantibody production in ANA-positive JIA patients. This may inform future classification and personalized treatment approaches for JIA, ultimately improving patient outcomes and management of this disease.

背景：青少年特发性关节炎（JIA）是一种复杂的自身免疫性疾病，也是16岁以下儿童最常见的慢性风湿病。人们对 JIA 的病因仍然知之甚少，但有证据表明它具有明显的遗传倾向：我们使用 Illumina OmniExpress 阵列进行基因分型，分析了瑞典队列中的 329 名 JIA 患者和 728 名健康成人对照。使用 SNP2HLA 算法从 GWAS 数据中推算 HLA 等位基因：结果：病例对照分析得出了 12 个与 JIA 有全基因组显著相关性的 SNP，它们都位于 MHC II 类基因区域内的 6 号染色体上。值得注意的是，最重要的 SNP（rs28421666）与 HLA-DQA1 和 HLA-DRB1 相邻。在整个队列中，HLA-DRB1*08:01、HLA-DQA1*04:01 和 HLA-DQB1*04:02 是与 JIA 风险增加关系最密切的单倍型。在分析特定疾病亚型时，这些等位基因与少关节炎和射频阴性多关节炎相关。在 HLA-DRB1-DQA1-DQB1 单倍型复杂的连锁不平衡中，我们的分析表明，HLA-DRB1*08 可能是与 JIA 易感性相关的主要等位基因。HLA-DRB1*11等位基因组也与JIA独立相关，并特别富集于少关节炎患者组。此外，我们的研究还揭示了抗核抗体（ANA）阳性与特定 HLA 等位基因之间的显著相关性。ANA阳性的JIA组与HLA-DRB1-DQA1-DQB1单倍型、HLA-DRB1*11和HLA-DPB1*02有更强的相关性，这表明遗传因素与JIA中ANA的产生有潜在的联系。此外，逻辑回归分析再次证实了HLA等位基因、女性性别和较低的发病年龄对ANA阳性的影响：本研究发现了 HLA 等位基因与 JIA 亚型之间不同的遗传关联，尤其是在 ANA 阳性患者中。这些发现有助于人们更好地了解 JIA 的遗传基础，并为 ANA 阳性 JIA 患者自身抗体产生的遗传控制提供了见解。这可能会为未来JIA的分类和个性化治疗方法提供依据，最终改善患者的预后和对这种疾病的管理。

{"title":"Genetic association of antinuclear antibodies with HLA in JIA patients: a Swedish cohort study.","authors":"Raya Saleh, Erik Sundberg, Mia Olsson, Katarina Tengvall, Lars Alfredsson, Ingrid Kockum, Leonid Padyukov, Helena Erlandsson Harris","doi":"10.1186/s12969-024-01017-8","DOIUrl":"10.1186/s12969-024-01017-8","url":null,"abstract":"Background: Juvenile Idiopathic Arthritis (JIA) is a complex autoimmune disease and the most common chronic rheumatological disease affecting children under the age of 16. The etiology of JIA remains poorly understood, but evidence suggests a significant genetic predisposition.Methods: We analyzed a Swedish cohort of 329 JIA patients and 728 healthy adult controls using the Illumina OmniExpress array for genotyping. HLA alleles were imputed from GWAS data using the SNP2HLA algorithm.Results: Case-control analysis yielded 12 SNPs with genome-wide significant association to JIA, all located on chromosome 6 within the MHC class II gene region. Notably, the top SNP (rs28421666) was located adjacent to HLA-DQA1 and HLA-DRB1. HLA-DRB1*08:01, HLA-DQA1*04:01, and HLA-DQB1*04:02 were the haplotypes most strongly associated with an increased risk of JIA in the overall cohort. When analyzing disease specific subtypes, these alleles were associated with oligoarthritis and RF-negative polyarthritis. Within the complex linkage disequilibrium of the HLA-DRB1-DQA1-DQB1 haplotype, our analysis suggests that HLA-DRB1*08 might be the primary allele linked to JIA susceptibility. The HLA-DRB1*11 allele group was also independently associated with JIA and specifically enriched in the oligoarthritis patient group. Additionally, our study revealed a significant correlation between antinuclear antibody (ANA) positivity and specific HLA alleles. The ANA-positive JIA group showed stronger associations with the HLA-DRB1-DQA1-DQB1 haplotype, HLA-DRB1*11, and HLA-DPB1*02, suggesting a potential connection between genetic factors and ANA production in JIA. Furthermore, logistic regression analysis reaffirmed the effects of HLA alleles, female sex, and lower age at onset on ANA positivity.Conclusions: This study identified distinct genetic associations between HLA alleles and JIA subtypes, particularly in ANA-positive patients. These findings contribute to a better understanding of the genetic basis of JIA and provide insights into the genetic control of autoantibody production in ANA-positive JIA patients. This may inform future classification and personalized treatment approaches for JIA, ultimately improving patient outcomes and management of this disease.","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"79"},"PeriodicalIF":2.8,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11348572/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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

Reliability of a generative artificial intelligence tool for pediatric familial Mediterranean fever: insights from a multicentre expert survey. 小儿家族性地中海热人工智能生成工具的可靠性：多中心专家调查的启示。

IF 2.8 3区医学 Q1 PEDIATRICS

Pediatric Rheumatology

Pub Date : 2024-08-23 DOI: 10.1186/s12969-024-01011-0

Saverio La Bella, Marina Attanasi, Annamaria Porreca, Armando Di Ludovico, Maria Cristina Maggio, Romina Gallizzi, Francesco La Torre, Donato Rigante, Francesca Soscia, Francesca Ardenti Morini, Antonella Insalaco, Marco Francesco Natale, Francesco Chiarelli, Gabriele Simonini, Fabrizio De Benedetti, Marco Gattorno, Luciana Breda

Background: Artificial intelligence (AI) has become a popular tool for clinical and research use in the medical field. The aim of this study was to evaluate the accuracy and reliability of a generative AI tool on pediatric familial Mediterranean fever (FMF).

Methods: Fifteen questions repeated thrice on pediatric FMF were prompted to the popular generative AI tool Microsoft Copilot with Chat-GPT 4.0. Nine pediatric rheumatology experts rated response accuracy with a blinded mechanism using a Likert-like scale with values from 1 to 5.

Results: Median values for overall responses at the initial assessment ranged from 2.00 to 5.00. During the second assessment, median values spanned from 2.00 to 4.00, while for the third assessment, they ranged from 3.00 to 4.00. Intra-rater variability showed poor to moderate agreement (intraclass correlation coefficient range: -0.151 to 0.534). A diminishing level of agreement among experts over time was documented, as highlighted by Krippendorff's alpha coefficient values, ranging from 0.136 (at the first response) to 0.132 (at the second response) to 0.089 (at the third response). Lastly, experts displayed varying levels of trust in AI pre- and post-survey.

Conclusions: AI has promising implications in pediatric rheumatology, including early diagnosis and management optimization, but challenges persist due to uncertain information reliability and the lack of expert validation. Our survey revealed considerable inaccuracies and incompleteness in AI-generated responses regarding FMF, with poor intra- and extra-rater reliability. Human validation remains crucial in managing AI-generated medical information.

背景：人工智能（AI）已成为医学领域用于临床和研究的热门工具。本研究旨在评估生成式人工智能工具在小儿家族性地中海热（FMF）方面的准确性和可靠性：方法：将有关小儿地中海家族性发热的 15 个重复三次的问题提示给使用 Chat-GPT 4.0 的流行生成式人工智能工具 Microsoft Copilot。九位儿科风湿病学专家在盲法机制下，使用1至5分的李克特量表对回答的准确性进行评分：初次评估的总体回答中值为 2.00 至 5.00。第二次评估的中值范围为 2.00 至 4.00，第三次评估的中值范围为 3.00 至 4.00。专家之间的一致性从较差到中等（等级内相关系数范围：-0.151 至 0.534）。专家之间的一致性水平随着时间的推移而降低，克里彭多尔夫的α系数值从 0.136（第一次回答）到 0.132（第二次回答）再到 0.089（第三次回答）。最后，专家们在调查前后对人工智能表现出了不同程度的信任：结论：人工智能在儿科风湿病学中具有广阔的前景，包括早期诊断和管理优化，但由于信息可靠性不确定和缺乏专家验证，挑战依然存在。我们的调查显示，人工智能生成的有关 FMF 的回答存在相当大的不准确性和不完整性，评分者内部和外部的可靠性都很差。人工验证对于管理人工智能生成的医疗信息仍然至关重要。

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引用次数: 0

Endpoints and outcomes for localized scleroderma/morphea: a scoping literature review. 局部硬皮病/褥疮的终点和结果：范围界定文献综述。

IF 2.8 3区医学 Q1 PEDIATRICS

Pediatric Rheumatology

Pub Date : 2024-08-21 DOI: 10.1186/s12969-024-01014-x

Alexy Hernandez, Leslie Zapata Leiva, Maria Mutka, Kathryn S Torok, Leila Ledbetter, Christina K Zigler

Background: Current treatment for localized scleroderma (LS) has been shown to halt disease activity, but little is still known about patient experiences with these treatments, nor is there consensus about optimal measurement strategies for future clinical trials.

Objective: Conduct a scoping review of the literature for the types of outcomes and measures (i.e. clinician-, patient-, and caregiver-reported) utilized in published treatment studies of LS.

Methods: Online databases were searched for articles related to the evaluation of treatment efficacy in LS with a special focus on pediatrics.

Results: Of the 168 studies, the most common outcomes used were cutaneous disease activity and damage measured via clinician-reported assessments. The most frequently cited measure was the Localized Scleroderma Cutaneous Assessment Tool (LoSCAT). Few patient-reported outcome measures (PROMs) were used.

Limitations: Some studies only vaguely reported the measures utilized, and the review yielded a low number of clinical trials.

Conclusion: In addition to evaluating disease activity with clinician-reported measures, the field could obtain critical knowledge on the patient experience by including high-quality PROMs of symptoms and functioning. More clinical trials using a variety of outcomes and measures are necessary to determine the most suitable course of treatment for LS patients.

背景：目前对局部硬皮病（LS）的治疗已被证明能阻止疾病活动，但患者对这些治疗的体验仍知之甚少，对未来临床试验的最佳测量策略也未达成共识：对已发表的 LS 治疗研究中使用的结果类型和测量方法（即临床医生、患者和护理人员报告）的文献进行范围界定：方法：在在线数据库中搜索与 LS 疗效评估相关的文章，重点关注儿科：在168项研究中，最常用的结果是通过临床医生报告的评估来衡量皮肤疾病的活动性和损害。最常引用的方法是局部硬皮病皮肤评估工具（LoSCAT）。很少使用患者报告的结果测量（PROMs）：局限性：有些研究只是含糊地报告了所使用的测量方法，而且综述中得出的临床试验数量较少：结论：除了用临床医生报告的指标评估疾病活动性外，该领域还可以通过纳入高质量的症状和功能PROM来获得有关患者体验的重要知识。为了确定最适合LS患者的治疗方案，有必要开展更多使用各种结果和测量方法的临床试验。

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引用次数: 0

A novel scoring system based on sIL-2R for predicting IVIG resistance in Chinese children with KD. 基于 sIL-2R 的新型评分系统用于预测中国 KD 患儿对 IVIG 的耐药性。

IF 2.8 3区医学 Q1 PEDIATRICS

Pediatric Rheumatology

Pub Date : 2024-08-18 DOI: 10.1186/s12969-024-01015-w

Yuan-Yuan Zeng, Su-Yue Zhu, Kang-Kang Xu, Lian-Fu Ji, Yu-Qi Wang, Yi Chen, Feng Chen, Shi-Wei Yang

Objective: This study aimed to develop a novel scoring system utilizing circulating interleukin (IL) levels to predict resistance to intravenous immunoglobulin (IVIG) in Chinese patients with Kawasaki disease (KD). We further compared this scoring system against six previously established scoring methods to evaluate its predictive performance.

Methods: A retrospective analysis was conducted on KD patients who were treated at the cardiovascular medical ward of our institution from January 2020 to December 2022. Six scoring systems (Egami, Formosa, Harada, Kobayashi, Lan and Yang) were analyzed, and a new scoring system was developed based on our data.

Results: In our study, 521 KD patients were recruited, 42 of whom (8.06%) were identified as resistant to IVIG. Our study indicated that IVIG-resistant KD patients were at an increased risk for the development of coronary arterial lesions (CALs) (P = 0.001). The evaluation of IVIG resistance using various scoring systems revealed differing levels of sensitivity and specificity, as follows: Egami (38.10% and 88.52%), Formosa (95.24% and 41.13%), Harada (78.57% and 43.22%), Kobayashi (66.67% and 74.95%), Lan (66.67% and 73.49%), and Yang (69.05% and 77.24%). Our novel scoring system utilizing sIL-2R demonstrated the highest sensitivity and specificity of 69.29% and 83.91%, respectively, and calibration curves indicated a favorable predictive accuracy of the model.

Conclusion: Our newly developed scoring system utilizing sIL-2R demonstrated superior predictive performance in identifying IVIG resistance among Chinese patients with KD.

研究目的本研究旨在利用循环白细胞介素（IL）水平开发一种新型评分系统，以预测中国川崎病（KD）患者对静脉注射免疫球蛋白（IVIG）的耐受性。我们进一步将该评分系统与之前建立的六种评分方法进行了比较，以评估其预测性能：我们对 2020 年 1 月至 2022 年 12 月期间在我院心血管内科病房接受治疗的 KD 患者进行了回顾性分析。分析了六种评分系统（Egami、Formosa、Harada、Kobayashi、Lan 和 Yang），并根据我们的数据开发了一种新的评分系统：我们的研究共招募了 521 名 KD 患者，其中 42 人（8.06%）被确定为对 IVIG 耐药。我们的研究表明，对 IVIG 耐药的 KD 患者发生冠状动脉病变 (CAL) 的风险更高（P = 0.001）。使用不同的评分系统对 IVIG 耐药性进行评估后发现，其敏感性和特异性水平各不相同，具体如下：Egami（38.10% 和 88.52%）、Formosa（95.24% 和 41.13%）、Harada（78.57% 和 43.22%）、Kobayashi（66.67% 和 74.95%）、Lan（66.67% 和 73.49%）和 Yang（69.05% 和 77.24%）。我们利用 sIL-2R 的新型评分系统显示出最高的灵敏度和特异性，分别为 69.29% 和 83.91%，校准曲线表明该模型具有良好的预测准确性：我们新开发的利用 sIL-2R 的评分系统在识别中国 KD 患者的 IVIG 耐药性方面表现出了卓越的预测性能。

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引用次数: 0