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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":null,"pages":null},"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
Personalised medicine in juvenile dermatomyositis: From novel insights in disease mechanisms to changes in clinical practice. 幼年皮肌炎的个性化医疗：从疾病机制的新见解到临床实践的改变。
IF 4.5 2区 医学
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-08-22 DOI: 10.1016/j.berh.2024.101976
Saskia R Veldkamp, Femke van Wijk, Annet van Royen-Kerkhof, Marc Ha Jansen
{"title":"Personalised medicine in juvenile dermatomyositis: From novel insights in disease mechanisms to changes in clinical practice.","authors":"Saskia R Veldkamp, Femke van Wijk, Annet van Royen-Kerkhof, Marc Ha Jansen","doi":"10.1016/j.berh.2024.101976","DOIUrl":"https://doi.org/10.1016/j.berh.2024.101976","url":null,"abstract":"<p><p>Juvenile dermatomyositis is characterized by childhood-onset chronic inflammation of the muscles and skin, with potential involvement of other organs. Patients are at risk for long-term morbidity due to insufficient disease control and steroid-related toxicity. Personalised treatment is challenged by a lack of validated tools that can reliably predict treatment response and monitor ongoing (subclinical) inflammation, and by a lack of evidence regarding the best choice of medication for individual patients. A better understanding of the involved disease mechanisms could reveal potential biomarkers and novel therapeutic targets. In this review, we highlight the most relevant immune and non-immune mechanisms, elucidating the effects of interferon overexpression on tissue alongside the interplay between the interferon signature, mitochondrial function, and immune cells. We review mechanism-based biomarkers that are promising for clinical implementation, and the latest advances in targeted therapy development. Finally, we discuss key steps needed for translating these discoveries into clinical practice.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037691","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":null,"pages":null},"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
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 : 2024-08-12 DOI: 10.1016/j.berh.2024.101986
Mojca Zajc Avramovic, Tadej Avcin
{"title":"Antiphospholipid syndrome in children.","authors":"Mojca Zajc Avramovic, Tadej Avcin","doi":"10.1016/j.berh.2024.101986","DOIUrl":"https://doi.org/10.1016/j.berh.2024.101986","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-08-12","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":"","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 : 2024-08-08 DOI: 10.1016/j.berh.2024.101975
Leonardo Oliveira Mendonça, Marie-Louise Frémond
{"title":"Interferonopathies: From concept to clinical practice.","authors":"Leonardo Oliveira Mendonça, Marie-Louise Frémond","doi":"10.1016/j.berh.2024.101975","DOIUrl":"https://doi.org/10.1016/j.berh.2024.101975","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-08-08","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Insights into the genetic landscape of systemic sclerosis. 洞察系统性硬化症的基因状况。
IF 4.5 2区 医学
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-07-26 DOI: 10.1016/j.berh.2024.101981
Ali El-Halwagi, Sandeep K Agarwal
{"title":"Insights into the genetic landscape of systemic sclerosis.","authors":"Ali El-Halwagi, Sandeep K Agarwal","doi":"10.1016/j.berh.2024.101981","DOIUrl":"https://doi.org/10.1016/j.berh.2024.101981","url":null,"abstract":"<p><p>Systemic sclerosis (SSc) is a complex autoimmune disease that clinically manifests as progressive fibrosis of the skin and internal organs. Autoimmunity and endothelial dysfunction play important roles in the development of SSc but the causes of SSc remain unknown. Accumulating evidence, first from familial aggregation studies and subsequently from candidate gene association studies and genome wide association studies underscore the crucial contributions of genetics to the development of SSc. The identification of polymorphisms in the HLA region as well as non-HLA loci is important for understanding the risks of developing SSc but can also provide important pathogenic insight in SSc. While not translating into clinic practice yet, understanding the genetic landscape of SSc will hopefully assist in the diagnosis and management of patients with and/or at risk of developing SSc in the future. Herein we review the studies that investigate genetic risks of SSc susceptibility.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141789824","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 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 : 2024-07-26 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, Carolina Zinterl, João Eurico Fonseca","doi":"10.1016/j.berh.2024.101984","DOIUrl":"10.1016/j.berh.2024.101984","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-07-26","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":"","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 : 2024-07-26 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, Djohra Hadef, Wafa Hamdi, Chris Scott, Waheba Slamang, Helen E Foster, Laura B Lewandowski","doi":"10.1016/j.berh.2024.101983","DOIUrl":"https://doi.org/10.1016/j.berh.2024.101983","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-07-26","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
Management of JIA associated uveitis. JIA相关葡萄膜炎的治疗
IF 4.5 2区 医学
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-07-23 DOI: 10.1016/j.berh.2024.101979
Ilaria Maccora, Gabriele Simonini, Catherine M Guly, Athimalaipet V Ramanan
{"title":"Management of JIA associated uveitis.","authors":"Ilaria Maccora, Gabriele Simonini, Catherine M Guly, Athimalaipet V Ramanan","doi":"10.1016/j.berh.2024.101979","DOIUrl":"https://doi.org/10.1016/j.berh.2024.101979","url":null,"abstract":"<p><p>Juvenile Idiopathic Arthritis (JIA) is the most common chronic rheumatic disease in childhood, and is associated with uveitis in up to 20-25% of cases. Typically, the uveitis is chronic, asymptomatic, non-granulomatous and anterior. For this reason, screening for uveitis is recommended to identify uveitis early and allow treatment to prevent sight-threatening complications. The management of JIA associated uveitis requires a multidisciplinary approach and a close collaboration between paediatric rheumatologist and ophthalmologist. Starting the appropriate treatment to control uveitis activity and prevent ocular complications is crucial. Current international recommendations advise a step-wise approach, starting with methotrexate and moving on to adalimumab if methotrexate alone is not sufficient to control the disease. If the uveitis remains active despite standard treatment other therapeutic options may be considered including anti-IL6 or other anti-TNF agents such as infliximab, although the evidence for these agents is limited.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141762445","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
Capillaroscopy in the daily clinic of the pediatric rheumatologist. 儿科风湿病医生日常门诊中的毛细血管镜检查。
IF 4.5 2区 医学
Best Practice & Research in Clinical Rheumatology Pub Date : 2024-07-20 DOI: 10.1016/j.berh.2024.101978
D Schonenberg-Meinema, M Cutolo, V Smith
{"title":"Capillaroscopy in the daily clinic of the pediatric rheumatologist.","authors":"D Schonenberg-Meinema, M Cutolo, V Smith","doi":"10.1016/j.berh.2024.101978","DOIUrl":"https://doi.org/10.1016/j.berh.2024.101978","url":null,"abstract":"<p><p>In the last decade, nailfold capillaroscopy is finding its way to the daily clinic of (pediatric) rheumatologist. This review will provide the necessary knowledge for the clinician performing this easy and non-invasive examination in children. In the first part, background information on type of capillaroscopy device and standardized (internationally validated) interpretations for the different capillary variables compared to healthy pediatric controls will be provided. The second part focusses on capillary changes that are observed in Raynaud's phenomenon with follow-up recommendations. This part will also cover capillaroscopy findings in juvenile systemic sclerosis, childhood-onset systemic lupus erythematosus, juvenile dermatomyositis and -mixed connective tissue disease, as well as correlations with disease severity. Lastly, a research agenda shows the current gaps we have in knowledge in this niche of nailfold capillaroscopy in pediatric connective tissue diseases.</p>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":null,"pages":null},"PeriodicalIF":4.5,"publicationDate":"2024-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141735576","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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