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Best Practice & Research in Clinical Rheumatology最新文献

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Antiphospholipid syndrome in children 儿童抗磷脂综合征
IF 4.5 2区 医学
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-09-01 DOI: 10.1016/j.berh.2024.101986
Mojca Zajc Avramovic , Tadej Avcin
{"title":"Antiphospholipid syndrome in children","authors":"Mojca Zajc Avramovic ,&nbsp;Tadej Avcin","doi":"10.1016/j.berh.2024.101986","DOIUrl":"10.1016/j.berh.2024.101986","url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":"38 3","pages":"Article 101986"},"PeriodicalIF":4.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141977185","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
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
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
{"title":"A lifelong journey: Long-term perspectives on Juvenile Idiopathic Arthritis","authors":"Filipa Oliveira Ramos ,&nbsp;Carolina Zinterl ,&nbsp;João Eurico Fonseca","doi":"10.1016/j.berh.2024.101984","DOIUrl":"10.1016/j.berh.2024.101984","url":null,"abstract":"<div><div>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.</div><div>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.</div><div>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.</div><div>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.</div></div>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":"38 3","pages":"Article 101984"},"PeriodicalIF":4.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141789822","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
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
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-09-01 DOI: 10.1016/j.berh.2024.101975
Leonardo Oliveira Mendonça , Marie-Louise Frémond
{"title":"Interferonopathies: From concept to clinical practice","authors":"Leonardo Oliveira Mendonça ,&nbsp;Marie-Louise Frémond","doi":"10.1016/j.berh.2024.101975","DOIUrl":"10.1016/j.berh.2024.101975","url":null,"abstract":"<div><div>The <em>horror autoinflammaticus</em> 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.</div></div>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":"38 3","pages":"Article 101975"},"PeriodicalIF":4.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141914489","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
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
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
{"title":"The inequity of global healthcare in pediatric rheumatology","authors":"Soamarat Vilaiyuk ,&nbsp;Djohra Hadef ,&nbsp;Wafa Hamdi ,&nbsp;Chris Scott ,&nbsp;Waheba Slamang ,&nbsp;Helen E. Foster ,&nbsp;Laura B. Lewandowski","doi":"10.1016/j.berh.2024.101983","DOIUrl":"10.1016/j.berh.2024.101983","url":null,"abstract":"<div><div>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.</div><div>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.</div></div>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":"38 3","pages":"Article 101983"},"PeriodicalIF":4.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141789825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
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
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
{"title":"A review of the advances in understanding the genetic basis of spondylarthritis and emerging clinical benefit.","authors":"Michael Stadler, Sizheng Steven Zhao, John Bowes","doi":"10.1016/j.berh.2024.101982","DOIUrl":"https://doi.org/10.1016/j.berh.2024.101982","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":" ","pages":"101982"},"PeriodicalIF":4.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142121108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
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
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-09-01 DOI: 10.1016/j.berh.2024.101962
{"title":"How to treat monogenic SLE?","authors":"","doi":"10.1016/j.berh.2024.101962","DOIUrl":"10.1016/j.berh.2024.101962","url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":"38 3","pages":"Article 101962"},"PeriodicalIF":4.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141321892","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
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
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-09-01 DOI: 10.1016/j.berh.2024.101960
{"title":"38.3 Primary Immunodeficiencies: When is it not just “JIA”","authors":"","doi":"10.1016/j.berh.2024.101960","DOIUrl":"10.1016/j.berh.2024.101960","url":null,"abstract":"<div><div><span>Juvenile Idiopathic Arthritis<span> (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</span></span><strong>.</strong><span> 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<span>, 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.</span></span></div></div>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":"38 3","pages":"Article 101960"},"PeriodicalIF":4.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141293916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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 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
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-09-01 DOI: 10.1016/j.berh.2024.101987
Clare E. Pain , Kathryn S. Torok
{"title":"Challenges and complications in juvenile localized scleroderma: A practical approach","authors":"Clare E. Pain ,&nbsp;Kathryn S. Torok","doi":"10.1016/j.berh.2024.101987","DOIUrl":"10.1016/j.berh.2024.101987","url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":"38 3","pages":"Article 101987"},"PeriodicalIF":4.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Preface: Pediatric rheumatology 前言：小儿风湿病学。
IF 4.5 2区 医学
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-09-01 DOI: 10.1016/j.berh.2024.102004
Christiaan Scott, Petra Hissink Muller
{"title":"Preface: Pediatric rheumatology","authors":"Christiaan Scott,&nbsp;Petra Hissink Muller","doi":"10.1016/j.berh.2024.102004","DOIUrl":"10.1016/j.berh.2024.102004","url":null,"abstract":"","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":"38 3","pages":"Article 102004"},"PeriodicalIF":4.5,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
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
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
{"title":"The importance of functional genomics studies in precision rheumatology.","authors":"Ana Pires Piedade, Jake Butler, Stephen Eyre, Gisela Orozco","doi":"10.1016/j.berh.2024.101988","DOIUrl":"https://doi.org/10.1016/j.berh.2024.101988","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":" ","pages":"101988"},"PeriodicalIF":4.5,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
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