Nature Reviews Rheumatology最新文献

{"title":"Time for a new approach to drug development for rare systemic autoinflammatory diseases","authors":"Natalie M. Zitoun, Erkan Demirkaya, Raphaela Goldbach-Mansky, Micol Romano","doi":"10.1038/s41584-024-01108-6","DOIUrl":"10.1038/s41584-024-01108-6","url":null,"abstract":"Despite the transformative potential of treatments for systemic autoinflammatory diseases, these conditions remain underfunded and understudied. Urgent, coordinated action among stakeholders is needed to overcome regulatory and research barriers, as is innovation and advocacy for the development of effective therapies for these rare diseases.","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 6","pages":"317-318"},"PeriodicalIF":33.7,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140349602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Author Correction: International Guideline for Idiopathic Inflammatory Myopathy-Associated Cancer Screening: an International Myositis Assessment and Clinical Studies Group (IMACS) initiative","authors":"Alexander G. S. Oldroyd, Jeffrey P. Callen, Hector Chinoy, Lorinda Chung, David Fiorentino, Patrick Gordon, Pedro M. Machado, Neil McHugh, Albert Selva-O’Callaghan, Jens Schmidt, Sarah L. Tansley, Ruth Ann Vleugels, Victoria P. Werth, International Myositis Assessment and Clinical Studies Group Cancer Screening Expert Group, Rohit Aggarwal","doi":"10.1038/s41584-024-01111-x","DOIUrl":"10.1038/s41584-024-01111-x","url":null,"abstract":"","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 5","pages":"315-315"},"PeriodicalIF":33.7,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s41584-024-01111-x.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140318720","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Low-frequency and rare genetic variants associated with rheumatoid arthritis risk","authors":"Vanessa L. Kronzer, Jeffrey A. Sparks, Soumya Raychaudhuri, James R. Cerhan","doi":"10.1038/s41584-024-01096-7","DOIUrl":"10.1038/s41584-024-01096-7","url":null,"abstract":"Rheumatoid arthritis (RA) has an estimated heritability of nearly 50%, which is particularly high in seropositive RA. HLA alleles account for a large proportion of this heritability, in addition to many common single-nucleotide polymorphisms with smaller individual effects. Low-frequency and rare variants, such as those captured by next-generation sequencing, can also have a large role in heritability in some individuals. Rare variant discovery has informed the development of drugs such as inhibitors of PCSK9 and Janus kinases. Some 34 low-frequency and rare variants are currently associated with RA risk. One variant (19:10352442G>C in TYK2) was identified in five separate studies, and might therefore represent a promising therapeutic target. Following a set of best practices in future studies, including studying diverse populations, using large sample sizes, validating RA and serostatus, replicating findings, adjusting for other variants and performing functional assessment, could help to ensure the relevance of identified variants. Exciting opportunities are now on the horizon for genetics in RA, including larger datasets and consortia, whole-genome sequencing and direct applications of findings in the management, and especially treatment, of RA. Rheumatoid arthritis has a substantial genetic component, some of which is associated with the presence of low-frequency or rare variants. Next-generation sequencing in large and well-defined cohorts can continue to identify these variants and thereby contribute to the future prediction, diagnosis and treatment of rheumatoid arthritis.","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 5","pages":"290-300"},"PeriodicalIF":33.7,"publicationDate":"2024-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140303657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply to: Current classification criteria underestimate the incidence of idiopathic inflammatory myopathies by ignoring subgroups","authors":"Thomas Khoo, James B. Lilleker, Bernard Yu-Hor Thong, Valérie Leclair, Janine A. Lamb, Hector Chinoy","doi":"10.1038/s41584-024-01106-8","DOIUrl":"10.1038/s41584-024-01106-8","url":null,"abstract":"","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 5","pages":"313-314"},"PeriodicalIF":33.7,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s41584-024-01106-8.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140184897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Current classification criteria underestimate the incidence of idiopathic inflammatory myopathies by ignoring subgroups","authors":"Margherita Giannini, Léa Debrut, Benoit Nespola, Michel Velten, Bernard Geny, Jean Sibilia, Alain Meyer","doi":"10.1038/s41584-024-01105-9","DOIUrl":"10.1038/s41584-024-01105-9","url":null,"abstract":"","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 5","pages":"311-312"},"PeriodicalIF":33.7,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s41584-024-01105-9.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140184896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nanoparticle-based pazopanib shows promise in OA","authors":"Rebecca Kelsey","doi":"10.1038/s41584-024-01104-w","DOIUrl":"10.1038/s41584-024-01104-w","url":null,"abstract":"A nanoparticle-based formulation of the anticancer drug pazopanib, which inhibits VEGFR1 and VEGFR2, shows promise as a disease-modifying drug for osteoarthritis.","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 5","pages":"253-253"},"PeriodicalIF":33.7,"publicationDate":"2024-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140162035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Limitations of the updated EULAR recommendations for osteoarthritis","authors":"Marius Henriksen","doi":"10.1038/s41584-024-01103-x","DOIUrl":"10.1038/s41584-024-01103-x","url":null,"abstract":"EULAR’s 2023 updated recommendations for the non-pharmacological treatment of hip and knee osteoarthritis reiterates and confirms, in an abbreviated form, what we have known for more than a decade. Unfortunately, the abbreviated format of the updated recommendations lacks specificity and clinical usefulness. More detailed guidance could have facilitated wider uptake and improved care.","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 6","pages":"321-322"},"PeriodicalIF":33.7,"publicationDate":"2024-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140145928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evidence-Based Guideline for the management of osteoporosis in men","authors":"Nicholas R. Fuggle, Charlotte Beaudart, Olivier Bruyère, Bo Abrahamsen, Nasser Al-Daghri, Nansa Burlet, Manju Chandran, Mario M. Rosa, Bernard Cortet, Céline Demonceau, Willard Dere, Philippe Halbout, Mickaël Hiligsmann, John A. Kanis, Jean-Marc Kaufman, Andreas Kurth, Olivier Lamy, Andrea Laslop, Stefania Maggi, Radmila Matijevic, Eugene McCloskey, Ali Mobasheri, Maria C. Prieto Yerro, Régis P. Radermecker, Shaun Sabico, Yousef Al-Saleh, Stuart Silverman, Nicola Veronese, René Rizzoli, Cyrus Cooper, Jean-Yves Reginster, Nicholas C. Harvey","doi":"10.1038/s41584-024-01094-9","DOIUrl":"10.1038/s41584-024-01094-9","url":null,"abstract":"Historically, osteoporosis has been viewed as a disease of women, with research, trials of interventions and guidelines predominantly focused as such. It is apparent, however, that this condition causes a substantial health burden in men also, and that its assessment and management must ultimately be addressed across both sexes. In this article, an international multidisciplinary working group of the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases presents GRADE-assessed recommendations for the diagnosis, monitoring and treatment of osteoporosis in men. The recommendations are based on a comprehensive review of the latest research related to diagnostic and screening approaches for osteoporosis and its associated high fracture risk in men, covering disease burden, appropriate interpretation of bone densitometry (including the use of a female reference database for densitometric diagnosis in men) and absolute fracture risk, thresholds for treatment, and interventions that can be used therapeutically and their health economic evaluation. Future work should specifically address the efficacy of anti-osteoporosis medications, including denosumab and bone-forming therapies. In this Evidence-Based Guideline article, an international multidisciplinary working group of the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases presents recommendations for the diagnosis, monitoring and treatment of osteoporosis in men.","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 4","pages":"241-251"},"PeriodicalIF":33.7,"publicationDate":"2024-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s41584-024-01094-9.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140132122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The clinical benefits of sodium–glucose cotransporter type 2 inhibitors in people with gout","authors":"Chio Yokose, Natalie McCormick, Abhishek Abhishek, Nicola Dalbeth, Tristan Pascart, Frédéric Lioté, Angelo Gaffo, John FitzGerald, Robert Terkeltaub, Meghan E. Sise, James L. Januzzi, Deborah J. Wexler, Hyon K. Choi","doi":"10.1038/s41584-024-01092-x","DOIUrl":"10.1038/s41584-024-01092-x","url":null,"abstract":"Gout is the most common form of inflammatory arthritis worldwide and is characterized by painful recurrent flares of inflammatory arthritis that are associated with a transiently increased risk of adverse cardiovascular events. Furthermore, gout is associated with multiple cardiometabolic–renal comorbidities such as type 2 diabetes, chronic kidney disease and cardiovascular disease. These comorbidities, potentially combined with gout flare-related inflammation, contribute to persistent premature mortality in gout, independently of serum urate concentrations and traditional cardiovascular risk factors. Although better implementation of standard gout care could improve gout outcomes, deliberate efforts to address the cardiovascular risk in patients with gout are likely to be required to reduce mortality. Sodium–glucose cotransporter type 2 (SGLT2) inhibitors are approved for multiple indications owing to their ability to lower the risk of all-cause and cardiovascular death, hospitalizations for heart failure and chronic kidney disease progression, making them an attractive treatment option for gout. These medications have also been shown to lower serum urate concentrations, the causal culprit in gout risk, and are associated with a reduced risk of incident and recurrent gout, potentially owing to their purported anti-inflammatory effects. Thus, SGLT2 inhibition could simultaneously address both the symptoms of gout and its comorbidities. Gout is associated with various cardiometabolic–renal comorbidities that increase the risk of mortality. Sodium–glucose cotransporter type 2 (SGLT2) inhibitors show promise in both addressing the symptoms of gout and managing relevant comorbidities to help prevent premature mortality.","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 4","pages":"216-231"},"PeriodicalIF":33.7,"publicationDate":"2024-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140110671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A nosology of immune diseases from deep immunophenotyping","authors":"Michael F. McDermott","doi":"10.1038/s41584-024-01098-5","DOIUrl":"10.1038/s41584-024-01098-5","url":null,"abstract":"In 2006, a linear immunological continuum of autoinflammatory and autoimmune disorders ranging from monogenic diseases of innate immunity at one end to monogenic diseases of adaptive immunity at the other end was proposed to classify these conditions. Deep immunophenotyping has now revealed a cell-based nosology of these disorders.","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 5","pages":"256-257"},"PeriodicalIF":33.7,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140102034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}