Current opinion in rheumatology最新文献_第9页

What is PFAPA syndrome? Genetic clues about the pathogenesis. 什么是PFAPA综合征？发病机制的遗传线索。

IF 5.2 2区医学

Current opinion in rheumatology Pub Date : 2023-11-01 Epub Date: 2023-07-17 DOI: 10.1097/BOR.0000000000000956

Kalpana Manthiram

{"title":"What is PFAPA syndrome? Genetic clues about the pathogenesis.","authors":"Kalpana Manthiram","doi":"10.1097/BOR.0000000000000956","DOIUrl":"10.1097/BOR.0000000000000956","url":null,"abstract":"Purpose of review: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most common periodic fever syndrome in childhood. Recent studies report genetic susceptibility variants for PFAPA syndrome and the efficacy of tonsillectomy in a broader cohort of patients with recurrent stereotypical fever. In this review, we highlight the findings of these studies and what they may reveal about the pathogenesis of PFAPA.Recent findings: Newly identified genetic susceptibility loci for PFAPA suggest that it is a complex genetic disorder linked to Behçet's disease and recurrent aphthous ulcers. Patients who have PFAPA with some features of Behçet's disease have been reported. Moreover, the efficacy of tonsillectomy has now been described in patients who do not meet the full diagnostic criteria for PFAPA, although the immunologic profile in the tonsils is different from those with PFAPA. Factors that predict response to tonsillectomy are also reported.Summary: These findings highlight the heterogeneous phenotypes that may be related to PFAPA due to common genetic susceptibility or response to therapy. These relationships raise questions about how to define PFAPA and highlight the importance of understanding of the genetic architecture of PFAPA and related diseases.","PeriodicalId":11145,"journal":{"name":"Current opinion in rheumatology","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10538419/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9827769","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

Animal models in systemic sclerosis: an update. 系统性硬化症动物模型：最新进展。

IF 5.2 2区医学

Current opinion in rheumatology Pub Date : 2023-11-01 Epub Date: 2023-08-21 DOI: 10.1097/BOR.0000000000000967

Xiongjie Bi, Tingting Mills, Minghua Wu

{"title":"Animal models in systemic sclerosis: an update.","authors":"Xiongjie Bi, Tingting Mills, Minghua Wu","doi":"10.1097/BOR.0000000000000967","DOIUrl":"10.1097/BOR.0000000000000967","url":null,"abstract":"Purpose of review: Systemic sclerosis (SSc) is a multisystem autoimmune connective tissue disease characterized by early inflammation followed by excessive fibrosis in the skin and internal organs. Enhancing our comprehension of SSc pathogenesis is essential to develop effective therapeutic strategies. Animal models that mimic one or more aspects of SSc have been proven to be a valuable resource for investigating disease mechanisms. This review aims to provide an updated overview of the existing SSc animal models and the potentially relevant pathways to SSc pathogenesis.Recent findings: This review focuses on the most recently generated and investigated animal models, which delve into novel pathways beyond existing models or employ genetic technologies to gain a deeper understanding of SSc pathogenesis including activation of early type I interferon (IFN) signaling pathway, immune cell function and pulmonary artery hypertension (PAH).Summary: While no single animal model can fully replicate SSc, a combination of different models can offer valuable insights into the pathways involved in the onset and advancement of the SSc. These insights can prove animal models as a crutial preclinical tool for developing effective treatments for SSc.","PeriodicalId":11145,"journal":{"name":"Current opinion in rheumatology","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10553484/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10414468","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

Challenges in treating juvenile idiopathic arthritis. 治疗青少年特发性关节炎的挑战。

IF 5.1 2区医学

Current opinion in rheumatology Pub Date : 2023-09-01 DOI: 10.1097/BOR.0000000000000950

Marinka Twilt, Peter Stoustrup, Dax Rumsey

引用次数: 1

Medium-vessel and large-vessel vasculitis in children. 儿童中、大血管炎。

IF 5.1 2区医学

Current opinion in rheumatology Pub Date : 2023-09-01 DOI: 10.1097/BOR.0000000000000955

Christiaan Scott, Raphaella Stander, Frank Phoya

{"title":"Medium-vessel and large-vessel vasculitis in children.","authors":"Christiaan Scott, Raphaella Stander, Frank Phoya","doi":"10.1097/BOR.0000000000000955","DOIUrl":"https://doi.org/10.1097/BOR.0000000000000955","url":null,"abstract":"Purpose of review: This article serves as an up-to-date examination of the latest findings in the field of paediatric large-vessel and medium-vessel vasculitis.Recent findings: Over the last 2 years and in the wake of SARS-CoV2 pandemic, a multitude of studies have increased our insight into these conditions. Although large-vessel and medium-vessel vasculitis are uncommon amongst children, they are a complex and multisystem with a constantly evolving landscape. Increasing numbers of reports from low-income and middle-income countries are shaping our understanding of the epidemiology of vasculitis in children. The influence of infectious disease and the microbiome are of particular interest in unravelling pathogenetic aspects. Improved understanding of the genetics and immunology offer opportunities for better diagnostic options and biomarkers of disease as well as targeted therapies.Summary: In this review, we address recent findings in epidemiology, pathophysiology, clinical findings, bio-markers, imaging and treatment that have the potential to offer better management solutions for these uncommon conditions.","PeriodicalId":11145,"journal":{"name":"Current opinion in rheumatology","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9918121","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

When to stop medication in juvenile idiopathic arthritis. 青少年特发性关节炎何时停止用药。

IF 5.2 2区医学

Current opinion in rheumatology Pub Date : 2023-09-01 Epub Date: 2023-05-03 DOI: 10.1097/BOR.0000000000000948

Dori Abel, Pamela F Weiss

{"title":"When to stop medication in juvenile idiopathic arthritis.","authors":"Dori Abel, Pamela F Weiss","doi":"10.1097/BOR.0000000000000948","DOIUrl":"10.1097/BOR.0000000000000948","url":null,"abstract":"Purpose of review: Disease-modifying antirheumatic drugs (DMARDs) have dramatically improved patient outcomes in juvenile idiopathic arthritis (JIA). However, these medications may also result in physical, psychologic, and economic burden, which must be balanced with risk of flare off treatment. Although some children remain in remission after medication discontinuation, evidence is sparse for if, when, and how medications should be de-escalated once achieving clinically inactive disease (CID). We review the data on medication discontinuation and the role of serologic and imaging biomarkers in JIA.Recent findings: The literature uniformly supports early biologic DMARD initiation, although the optimal timing and strategy for medication withdrawal in patients with sustained CID remains unclear. In this review, we present the current data on flare frequency and time to flare, clinical factors associated with flare, and recapture data for each JIA category. We also summarize the current knowledge on the role of imaging and serologic biomarkers in guiding these treatment decisions.Summary: JIA is a heterogenous disease for which prospective clinical trials are needed to address the question of when, how, and in whom to withdraw medication. Research investigating the roles of serologic and imaging biomarkers may help improve the ability to ascertain which children can successfully de-escalate medications.","PeriodicalId":11145,"journal":{"name":"Current opinion in rheumatology","volume":null,"pages":null},"PeriodicalIF":5.2,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10526632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9913609","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

Update on treatment responses and outcome measure development in chronic nonbacterial osteomyelitis. 慢性非细菌性骨髓炎治疗反应和结局指标进展的最新进展。

IF 5.1 2区医学

Current opinion in rheumatology Pub Date : 2023-09-01 DOI: 10.1097/BOR.0000000000000954

Shwetha Ramachandran, Yongdong Zhao, Polly J Ferguson

{"title":"Update on treatment responses and outcome measure development in chronic nonbacterial osteomyelitis.","authors":"Shwetha Ramachandran, Yongdong Zhao, Polly J Ferguson","doi":"10.1097/BOR.0000000000000954","DOIUrl":"https://doi.org/10.1097/BOR.0000000000000954","url":null,"abstract":"Purpose of review: To review recent trends in treatment and recent progress in developing outcome measures needed for chronic nonbacterial osteomyelitis (CNO) clinical trials.Recent findings: CNO is an autoinflammatory bone disease. In a minority of patients, the disease is genetically driven, and diagnosis can be made by DNA sequencing. However, for nonsyndromic CNO there is no diagnostic test. The number of children with CNO appears to be increasing and damage is common. Increases in CNO diagnosis is due to raised awareness, increased availability of whole-body magnetic resonance imaging and rising incidence. Treatment remains empiric and it is unclear which second line treatment is superior. Tumor necrosis factor inhibitors (TNFi) and bisphosphonates continue to be used as second line agents for nonsteroidal anti-inflammatory drugs (NSAID) refractory CNO; newer immune modulatory medications are used if this fails. Validated classification criteria, clinical outcome measures and imaging scoring standards are needed for successful clinical trials.Summary: Best treatment for NSAID refractory CNO remains unclear. Classification criteria, clinical outcomes measures and standardized imaging scoring have been developed or are near completion. This will facilitate robust clinical trials in CNO with the goal of having approved medications for this painful disease.","PeriodicalId":11145,"journal":{"name":"Current opinion in rheumatology","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9928215","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

Update on autoinflammatory diseases. 自身炎症性疾病的最新进展。

IF 5.1 2区医学

Current opinion in rheumatology Pub Date : 2023-09-01 DOI: 10.1097/BOR.0000000000000953

Kosar Asna Ashari, Jonathan S Hausmann, Fatma Dedeoglu

{"title":"Update on autoinflammatory diseases.","authors":"Kosar Asna Ashari, Jonathan S Hausmann, Fatma Dedeoglu","doi":"10.1097/BOR.0000000000000953","DOIUrl":"https://doi.org/10.1097/BOR.0000000000000953","url":null,"abstract":"Purpose of review: Although the concept of systemic autoinflammatory diseases (SAIDs) is still very young, our knowledge about them is exponentially growing. In the current review, we aim to discuss novel SAIDs and autoinflammatory pathways discovered in the last couple of years.Recent findings: Advances in immunology and genetics have led to the discovery of new pathways involved in autoinflammation, as well as several new SAIDs, including retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH syndrome), vacuoles, E1 enzyme, X-linked autoinflammatory somatic (VEXAS) syndrome, TBK1 deficiency, NEMO deleted exon 5 autoinflammatory syndrome (NDAS), and disabling pansclerotic morphea. Progress in immunobiology and genetics has also brought forth novel treatments for SAIDs. Personalized medicine has made significant progress in areas such as cytokine-targeted therapies and gene therapies. However, much work remains, especially in measuring and improving the quality of life in patients with SAIDs.Summary: In the current review, we discuss the novelties in the world of SAIDs, including mechanistic pathways of autoinflammation, pathogenesis, and treatment. We hope this review helps rheumatologists to gain an updated understanding of SAIDs.","PeriodicalId":11145,"journal":{"name":"Current opinion in rheumatology","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9918117","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

New developments related to lung complications in pediatric rheumatic disease. 儿童风湿病肺部并发症的新进展

IF 5.1 2区医学

Current opinion in rheumatology Pub Date : 2023-09-01 DOI: 10.1097/BOR.0000000000000947

Shipra Rai, Grant S Schulert, Christopher Towe

{"title":"New developments related to lung complications in pediatric rheumatic disease.","authors":"Shipra Rai, Grant S Schulert, Christopher Towe","doi":"10.1097/BOR.0000000000000947","DOIUrl":"https://doi.org/10.1097/BOR.0000000000000947","url":null,"abstract":"Purpose of review: While substantial progress has been made understanding lung disease in adult patients with rheumatic disease, pediatric lung disease has not been well addressed. Several recent studies provide new insights into diagnosis, management and treatment of lung disease in children with rheumatic disease.Recent findings: Building on previous research, newly diagnosed patients may have abnormalities in pulmonary function tests and chest computed tomography imaging even when asymptomatic. New guidelines for screening for rheumatic-associated lung disease provide important recommendations for clinicians. New theories have been proposed about immunologic shifts leading to the development of lung disease in children with systemic juvenile idiopathic arthritis. Additionally, there are new antifibrotic agents that are being explored as treatments in pediatric patients with fibrotic lung diseases.Summary: Patients appear to have frequent lung function abnormalities while being clinically asymptomatic, emphasizing importance for rheumatologists to refer for pulmonary function tests and imaging at diagnosis. New advances are helping define optimal approaches to treatment of lung disease, including use of biologic agents and antifibrotic medicines for pediatric patients with rheumatologic diseases.","PeriodicalId":11145,"journal":{"name":"Current opinion in rheumatology","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9919415","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

Editorial introduction. 编辑介绍。

IF 5.1 2区医学

Current opinion in rheumatology Pub Date : 2023-09-01 DOI: 10.1097/BOR.0000000000000951

引用次数: 0

Go or no-go for treat-to-target in axial spondyloarthritis? 中轴性脊柱性关节炎的靶向治疗是进行还是不进行?

IF 5.1 2区医学

Current opinion in rheumatology Pub Date : 2023-07-01 DOI: 10.1097/BOR.0000000000000941

Casper Webers, Marin Been, Astrid van Tubergen

{"title":"Go or no-go for treat-to-target in axial spondyloarthritis?","authors":"Casper Webers, Marin Been, Astrid van Tubergen","doi":"10.1097/BOR.0000000000000941","DOIUrl":"https://doi.org/10.1097/BOR.0000000000000941","url":null,"abstract":"Purpose of review: For almost a decade, treat-to-target (T2T) has been advocated as a management strategy for axial spondyloarthritis (axSpA), despite a lack of trial evidence. Recently, the first and only published T2T trial in axSpA did not meet its primary endpoint. The purpose of this review is to discuss whether we should continue with a T2T approach in axSpA and to describe some experiences with T2T in clinical practice.Recent findings: The trial showed no superiority of T2T compared with usual care; however, several secondary trial outcomes and the health economic analysis actually favoured T2T, and there are conceivable reasons for the negative trial results. Furthermore, several knowledge gaps related to an optimal T2T approach in axSpA were identified. In clinical practice, a T2T approach was applied to only a limited extent, possibly because of several challenges.Summary: Despite one negative trial, it is too early to abandon T2T in axSpA. Not only more evidence from clinical trials but also research on the optimal target and management of all facets of axSpA, are highly needed. For successful implementation of T2T in clinical practice, it is important that barriers and facilitators to application are identified and subsequently addressed.","PeriodicalId":11145,"journal":{"name":"Current opinion in rheumatology","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10241428/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10075047","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