Best Practice & Research in Clinical Rheumatology最新文献

英文中文

Antiphospholipid syndrome in children 儿童抗磷脂综合征

IF 4.5 2区医学 Q1 RHEUMATOLOGY

Best Practice & Research in Clinical Rheumatology

Pub Date : 2024-09-01 DOI: 10.1016/j.berh.2024.101986

Mojca Zajc Avramovic , Tadej Avcin

Antiphospholipid syndrome (APS) in children is a rare disease associated with significant morbidity and mortality. In comparison with APS in adults, pediatric APS has a more severe presentation with frequent recurrences of thrombotic events and a higher probability of life-threatening catastrophic APS. Nonthrombotic manifestations are also more common in the pediatric age group and can precede thrombosis. New classification criteria have been introduced recently and have not yet been assessed in pediatric patients with APS. In addition to anticoagulation drugs, other novel therapies have emerged including the use of B cell and complement inhibitors, especially in catastrophic APS. The purpose of this review is to provide a broad overview of aPL-related clinical manifestations in pediatric patients based on the analysis of published cohorts and data from the international pediatric APS registry. We also aim to illustrate APS in infants caused by transplacentally transferred maternal aPL, which is very rarely associated with acute thrombotic events in the perinatal period and more frequently with long-term neurodevelopmental abnormalities.

儿童抗磷脂综合征（APS）是一种罕见疾病，发病率和死亡率都很高。与成人抗磷脂综合征相比，儿童抗磷脂综合征的表现更为严重，血栓事件频繁复发，发生危及生命的灾难性抗磷脂综合征的概率更高。非血栓性表现在儿科年龄组中也更为常见，并可能先于血栓形成。最近推出了新的分类标准，但尚未对 APS 儿童患者进行评估。除了抗凝药物外，还出现了其他新型疗法，包括使用 B 细胞和补体抑制剂，尤其是在灾难性 APS 中。本综述的目的是在分析已发表的队列和国际儿科 APS 登记数据的基础上，概述儿科患者 APL 相关的临床表现。我们还旨在说明经胎盘转移的母体 aPL 引起的婴儿 APS，这种 APS 在围产期很少与急性血栓事件相关，而更常见的是与长期神经发育异常相关。

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引用次数: 0

A lifelong journey: Long-term perspectives on Juvenile Idiopathic Arthritis 终生之旅：青少年特发性关节炎的长期展望。

IF 4.5 2区医学 Q1 RHEUMATOLOGY

Best Practice & Research in Clinical Rheumatology

Pub Date : 2024-09-01 DOI: 10.1016/j.berh.2024.101984

Filipa Oliveira Ramos , Carolina Zinterl , João Eurico Fonseca

Juvenile Idiopathic Arthritis (JIA) represents a diverse group of chronic inflammatory conditions that begin in childhood or adolescence and continue into adulthood, with varying severity and outcomes.

This review discusses the complexities of transitioning JIA patients emphasizing that inadequate transition from pediatric to adult care leads to loss of follow-up, treatment discontinuation, and increased disease activity. Furthermore, challenges in disease classification hinder continuity of care across lifespan.

It is also pointed out that predicting long-term outcomes in JIA remains complex due to heterogeneity and evolving phenotypes. Factors such as disease category, joint involvement, and treatment influence disease activity, functional disability, and quality of life. Despite advancements in treatment strategies, a substantial proportion of patients experience long-term disability and joint damage.

Finally, it is underscored that optimising long-term outcomes in adults with JIA requires a multifaceted approach encompassing structured transition processes, personalised treatment strategies, and comprehensive management of comorbidities. Further research is needed to refine predictive models, enhance disease monitoring tools, and understand the complex interplay between disease activity, treatment response, and long-term outcomes.

青少年特发性关节炎（JIA）是一组多种多样的慢性炎症，起病于儿童或青少年时期，一直持续到成年，其严重程度和结果各不相同。这篇综述讨论了 JIA 患者转归的复杂性，强调从儿科到成人护理的转归不当会导致随访丧失、治疗中断和疾病活动增加。此外，疾病分类方面的挑战也阻碍了跨生命周期护理的连续性。研究还指出，由于异质性和表型的不断变化，预测JIA的长期预后仍然很复杂。疾病类别、关节受累和治疗等因素会影响疾病活动、功能障碍和生活质量。尽管治疗策略取得了进步，但仍有相当一部分患者会出现长期残疾和关节损伤。最后，需要强调的是，要优化成年 JIA 患者的长期预后，需要采取多方面的方法，包括结构化的转归过程、个性化的治疗策略以及合并症的综合管理。我们需要进一步开展研究，以完善预测模型，改进疾病监测工具，并了解疾病活动、治疗反应和长期预后之间复杂的相互作用。

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引用次数: 0

Interferonopathies: From concept to clinical practice 干扰素病：从概念到临床实践。

IF 4.5 2区医学 Q1 RHEUMATOLOGY

Best Practice & Research in Clinical Rheumatology

Pub Date : 2024-09-01 DOI: 10.1016/j.berh.2024.101975

Leonardo Oliveira Mendonça , Marie-Louise Frémond

The horror autoinflammaticus derived from aberrant type I interferon secretion determines a special group of autoinflammatory diseases named interferonopathies. Diverse mechanisms involved in nucleic acids sensing, metabolizing or the lack of interferon signaling retro-control are responsible for the phenotypes associated to Aicardi-Goutières Syndrome (AGS), Proteasome-Associated Autoinflammatory Diseases (PRAAS), STING-Associated Vasculopathy with Infancy Onset (SAVI) and certain forms of monogenic Systemic lupus erythematosus (SLE). This review approaches interferonopathies from the basic immunogenetic concept to diagnosis and treatment.

由 I 型干扰素分泌异常引起的自身炎症性恐怖症决定了一类特殊的自身炎症性疾病--干扰素病。涉及核酸感应、代谢或缺乏干扰素信号逆向控制的各种机制是艾卡迪-古铁雷斯综合征（AGS）、蛋白酶体相关自身炎症性疾病（PRAAS）、STING-婴儿期发病相关血管病（SAVI）和某些形式的单基因系统性红斑狼疮（SLE）相关表型的原因。本综述从基本的免疫遗传学概念到诊断和治疗，探讨了干扰素病。

引用次数: 0

The inequity of global healthcare in pediatric rheumatology 儿科风湿病学全球医疗保健的不平等。

IF 4.5 2区医学 Q1 RHEUMATOLOGY

Best Practice & Research in Clinical Rheumatology

Pub Date : 2024-09-01 DOI: 10.1016/j.berh.2024.101983

Soamarat Vilaiyuk , Djohra Hadef , Wafa Hamdi , Chris Scott , Waheba Slamang , Helen E. Foster , Laura B. Lewandowski

In pediatric rheumatology, global health inequity relates to the uneven distribution of healthcare resources, accessibility, and health outcomes among children with rheumatic conditions across various countries, regions, and socioeconomic groups. This inequity can manifest in various ways. This review article provides an overview of common rheumatic diseases, such as juvenile idiopathic arthritis and systemic lupus erythematosus, which significantly contribute to and are affected by disparities in global healthcare.

Subsequently, we delve into the inequalities in accessing patient care, encompassing issues related to diagnosis and treatment. Additionally, we address challenges in educational advancement and identify research gaps within the field of pediatric rheumatology. We also reveal successful global collaborations, such as a Global Task Force for Pediatric Musculoskeletal Health and special working groups among international organizations, aimed at bridging the disparities gap. Through these efforts, we try to enhance understanding, cooperation, and resource allocation to ensure equal access to quality care worldwide for children with rheumatic conditions. Futhermore, we present a case study from Thailand, highlighting their successful initiatives in developing pediatric rheumatology within their healthcare system.

在儿科风湿病学中，全球健康不公平与不同国家、地区和社会经济群体的风湿病患儿在医疗资源、可及性和健康结果方面的分布不均有关。这种不公平现象有多种表现形式。这篇综述文章概述了常见的风湿性疾病，如幼年特发性关节炎和系统性红斑狼疮，这些疾病在很大程度上造成了全球医疗保健的不平等，也受到了不平等的影响。随后，我们深入探讨了患者在获得医疗服务方面的不平等，包括与诊断和治疗相关的问题。此外，我们还探讨了教育进步所面临的挑战，并确定了儿科风湿病学领域的研究差距。我们还揭示了成功的全球合作，如儿科肌肉骨骼健康全球工作组和国际组织间的特别工作组，旨在缩小差距。通过这些努力，我们试图加强理解、合作和资源分配，以确保风湿病患儿在全球范围内平等地获得优质医疗服务。此外，我们还介绍了泰国的一个案例研究，重点介绍了他们在医疗保健系统中发展儿科风湿病学的成功举措。

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引用次数: 0

A review of the advances in understanding the genetic basis of spondylarthritis and emerging clinical benefit. 回顾在了解脊柱关节炎遗传基础方面取得的进展以及新出现的临床益处。

IF 4.5 2区医学 Q1 RHEUMATOLOGY

Best Practice & Research in Clinical Rheumatology

Pub Date : 2024-09-01 DOI: 10.1016/j.berh.2024.101982

Michael Stadler, Sizheng Steven Zhao, John Bowes

Spondyloarthropathies (SpA), including ankylosing spondylitis (AS) and psoriatic arthritis (PsA), have been shown to have a substantial genetic predisposition based on heritability estimates derived from family studies and genome-wide association studies (GWAS). GWAS have uncovered numerous genetic loci associated with susceptibility to SpA, with significant associations to human leukocyte antigen (HLA) genes, which are major genetic risk factors for both AS and PsA. Specific loci differentiating PsA from cutaneous-only psoriasis have been identified, though these remain limited. Further research with larger sample sizes is necessary to identify more PsA-specific genetic markers. Current research focuses on translating these genetic insights into clinical applications. For example, polygenic risk scores are showing promise for the classification of disease risk and diagnosis and future research should focus on refining these risk assessment tools to improve clinical outcomes for individuals with SpA. Addressing these challenges will help integrate genetic testing into patients care and impact clinical practice.

脊柱关节病（Spondyloarthropathies，SpA），包括强直性脊柱炎（ankylosing spondylitis，AS）和银屑病关节炎（psoriatic arthritis，PsA），根据家族研究和全基因组关联研究（genome-wide association studies，GWAS）得出的遗传率估计值，已被证明有很大的遗传倾向。全基因组关联研究（GWAS）发现了许多与 SpA 易感性相关的基因位点，其中与人类白细胞抗原（HLA）基因有显著关联的位点是 AS 和 PsA 的主要遗传风险因素。目前已确定了区分 PsA 和单纯皮肤型银屑病的特定基因位点，但这些位点仍然有限。有必要进行样本量更大的进一步研究，以确定更多 PsA 特异性遗传标记。目前的研究重点是将这些遗传学见解转化为临床应用。例如，多基因风险评分显示了疾病风险分类和诊断的前景，未来的研究应侧重于完善这些风险评估工具，以改善 SpA 患者的临床疗效。应对这些挑战将有助于将基因检测纳入患者护理并影响临床实践。

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引用次数: 0

How to treat monogenic SLE? 如何治疗单基因系统性红斑狼疮？

IF 4.5 2区医学 Q1 RHEUMATOLOGY

Best Practice & Research in Clinical Rheumatology

Pub Date : 2024-09-01 DOI: 10.1016/j.berh.2024.101962

Systemic lupus erythematosus is a rare and life-threatening autoimmune disease characterized by autoantibodies against double-stranded DNA, with an immunopathology that remains partially unclear. New insights into the disease have been provided by the discovery of key mutations leading to the development of monogenic SLE, occurring in the context of early-onset disease, syndromic lupus, or familial clustering. The increased frequency of discovering these mutations in recent years, thanks to the advent of genetic screening, has greatly enhanced our understanding of the immunopathogenesis of SLE. These monogenic defects include defective clearance of apoptotic bodies, abnormalities in nucleic acid sensing, activation of the type-I interferon pathway, and the breakdown of tolerance through B or T cell activation or lymphocyte proliferation due to anomalies in TLR signalling and/or NFκB pathway overactivation. The translation of genetic discoveries into therapeutic strategies is presented here, within the framework of personalized therapy.

系统性红斑狼疮是一种罕见的危及生命的自身免疫性疾病，其特征是针对双链DNA的自身抗体，其免疫病理仍部分不清楚。通过发现导致单基因系统性红斑狼疮发病的关键突变，人们对这种疾病有了新的认识，这些突变发生在早发性疾病、综合征性狼疮或家族聚集性疾病中。近年来，由于基因筛查技术的出现，发现这些突变的频率越来越高，这大大提高了我们对系统性红斑狼疮免疫发病机制的认识。这些单基因缺陷包括凋亡体清除缺陷、核酸感应异常、I型干扰素通路激活，以及由于TLR信号异常和/或NFκB通路过度激活导致的B或T细胞激活或淋巴细胞增殖，从而破坏耐受性。本文介绍了在个性化治疗框架内将基因发现转化为治疗策略的情况。

引用次数: 0

38.3 Primary Immunodeficiencies: When is it not just “JIA” 38.3 原发性免疫缺陷：何时不仅仅是 "JIA"。

IF 4.5 2区医学 Q1 RHEUMATOLOGY

Best Practice & Research in Clinical Rheumatology

Pub Date : 2024-09-01 DOI: 10.1016/j.berh.2024.101960

Juvenile Idiopathic Arthritis (JIA) is sometimes considered a diagnosis of exclusion as the name signifies that no cause is evident for this form of arthritis. Despite this JIA has some classical clinical features and many categories are defined based on the phenotype. Since there is no diagnostic test for JIA, diseases that can mimic JIA, including Primary Immunodeficiencies (PID) can sometimes be misdiagnosed as JIA. The clues to suspecting PIDs are early age of onset, presence of family history, increased susceptibility to infections, unusual features like urticaria, interstitial lung disease, sensorineural hearing loss and poor response to conventional therapy, amongst others. This review will highlight the basics of PIDs and will discuss PIDs that can present with arthritis and hence can be confused with JIA.

青少年特发性关节炎（JIA）有时被认为是一种排除性诊断，因为它的名称意味着这种关节炎没有明显的病因。尽管如此，JIA 仍有一些经典的临床特征，并根据表型定义了许多类别。由于没有针对 JIA 的诊断测试，包括原发性免疫缺陷症（PID）在内的可模拟 JIA 的疾病有时会被误诊为 JIA。怀疑 PID 的线索包括发病年龄早、有家族史、对感染的易感性增加、荨麻疹等异常特征、间质性肺病、感音神经性听力损失和对常规治疗反应差等。本综述将重点介绍 PID 的基本知识，并讨论可能伴有关节炎从而与 JIA 相混淆的 PID。

引用次数: 0

Challenges and complications in juvenile localized scleroderma: A practical approach 幼年局部硬皮病的挑战与并发症：实用方法。

IF 4.5 2区医学 Q1 RHEUMATOLOGY

Best Practice & Research in Clinical Rheumatology

Pub Date : 2024-09-01 DOI: 10.1016/j.berh.2024.101987

Clare E. Pain , Kathryn S. Torok

Juvenile localized scleroderma is characterised by inflammation which drives fibrosis in skin and soft tissues. The more severe subtypes of localized scleroderma such as linear and craniofacial are more common in children. Additionally, extracutaneous involvement is seen in half of all children and is associated with poorer treatment outcomes and health-related quality of life. Evidence for the management of craniofacial and extracutaneous involvement is lacking and therefore poses a challenge to clinicians. This review aims to provide a practical approach to management of these most challenging features of juvenile localized scleroderma through case studies where we present the available evidence, current recommendations and considerations for management.

青少年局部硬皮病的特点是炎症导致皮肤和软组织纤维化。局部硬皮病中较严重的亚型，如线性硬皮病和颅面硬皮病，在儿童中更为常见。此外，半数患儿会出现皮肤外受累，这与较差的治疗效果和与健康相关的生活质量有关。颅面和皮外受累的治疗缺乏证据，因此给临床医生带来了挑战。本综述旨在通过病例研究，介绍现有证据、当前建议和管理注意事项，为管理这些最具挑战性的幼年局部硬皮病特征提供实用方法。

引用次数: 0

Preface: Pediatric rheumatology 前言：小儿风湿病学。

IF 4.5 2区医学 Q1 RHEUMATOLOGY

Best Practice & Research in Clinical Rheumatology

Pub Date : 2024-09-01 DOI: 10.1016/j.berh.2024.102004

Christiaan Scott, Petra Hissink Muller

引用次数: 0

The importance of functional genomics studies in precision rheumatology. 功能基因组学研究在精准风湿病学中的重要性。

IF 4.5 2区医学 Q1 RHEUMATOLOGY

Best Practice & Research in Clinical Rheumatology

Pub Date : 2024-08-22 DOI: 10.1016/j.berh.2024.101988

Ana Pires Piedade, Jake Butler, Stephen Eyre, Gisela Orozco

Rheumatic diseases, those that affect the musculoskeletal system, cause significant morbidity. Among risk factors of these diseases is a significant genetic component. Recent advances in high-throughput omics techniques now allow a comprehensive profiling of patients at a genetic level through genome-wide association studies. Without functional interpretation of variants identified through these studies, clinical insight remains limited. Strategies include statistical fine-mapping that refine the list of variants in loci associated with disease, whilst colocalization techniques attempt to attribute function to variants that overlap a genetically active chromatin annotation. Functional validation using genome editing techniques can be used to further refine genetic signals and identify key pathways in cell types relevant to rheumatic disease biology. Insight gained from the combination of genetic studies and functional validation can be used to improve precision medicine in rheumatic diseases by allowing risk prediction and drug repositioning.

风湿病是影响肌肉骨骼系统的疾病，发病率很高。这些疾病的风险因素中有一个重要的遗传因素。近年来，高通量组学技术不断进步，现在可以通过全基因组关联研究对患者的基因水平进行全面分析。如果不能对这些研究中发现的变异进行功能解释，临床洞察力仍然有限。研究策略包括统计精细图谱，以完善与疾病相关的基因座中的变异体列表，而共定位技术则试图将功能归因于与基因活性染色质注释重叠的变异体。利用基因组编辑技术进行功能验证可进一步完善遗传信号，并确定与风湿病生物学相关的细胞类型中的关键通路。结合基因研究和功能验证所获得的洞察力可用于风险预测和药物重新定位，从而改善风湿性疾病的精准医疗。

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全部化学•材料生命科学医学物理工程技术环境•农林材料科学地球科学法学管理学化学环境科学与生态学计算机科学教育学经济学农林科学人文科学生物学数学物理与天体物理心理学综合性期刊其他工业工程理学历史学农学文学信息工程

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Best Practice & Research in Clinical Rheumatology

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