Tim Berger, Julia Dumfarth, Maximilian Kreibich, Kenji Minatoya, Bulat A Ziganshin, Martin Czerny
{"title":"Thoracic aortic aneurysm.","authors":"Tim Berger, Julia Dumfarth, Maximilian Kreibich, Kenji Minatoya, Bulat A Ziganshin, Martin Czerny","doi":"10.1038/s41572-025-00617-2","DOIUrl":"https://doi.org/10.1038/s41572-025-00617-2","url":null,"abstract":"<p><p>Aortic medicine has undergone remarkable progress in recent decades with regard to our understanding and treatment of aortic disease. In the past decade, the scientific community has called for the aorta to be viewed as an independent organ, advocating for a holistic approach to understanding thoracic aortic disease, integrating its embryological development, wall composition, pathophysiological mechanisms, surveillance and treatment. Thoracic aortic aneurysm (TAA) is a potentially fatal disease characterized by abnormal dilation of the thoracic aorta, whereby the structural integrity of the vessel wall is compromised. Although epidemiological studies of TAA are confounded by its asymptomatic nature and diagnostic challenges, available evidence suggests that TAA prevalence and treatment outcomes vary according to race, sex and socioeconomic factors. Pathophysiological mechanisms involve interactions between vascular smooth muscle cells and the extracellular matrix, influenced by genetic predisposition and embryological factors as well as arterial hypertension. Diagnosis relies on advanced imaging techniques, with CT angiography considered to be the gold standard diagnostic tool and with genetic screening recommended for heritable conditions. Preventive measures focus on managing cardiovascular risk factors, whereas treatment includes medical management, as well as endovascular and open surgical repair. TAA has a major effect on quality of life, particularly in younger, female and genetically predisposed patients, necessitating further research and tailored interventions.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"34"},"PeriodicalIF":76.9,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143972391","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}
Senaka Rajapakse, Narmada Fernando, Anou Dreyfus, Chris Smith, Chaturaka Rodrigo
{"title":"Leptospirosis.","authors":"Senaka Rajapakse, Narmada Fernando, Anou Dreyfus, Chris Smith, Chaturaka Rodrigo","doi":"10.1038/s41572-025-00614-5","DOIUrl":"https://doi.org/10.1038/s41572-025-00614-5","url":null,"abstract":"<p><p>Leptospirosis is a zoonotic bacterial infection that is prevalent across all continents and is caused by pathogenic spirochaetes of the genus Leptospira. Although infection can be asymptomatic, symptomatic disease can vary in severity from mild to severe illness, the latter characterized by icterus and/or multi-organ dysfunction and potentially death. An estimated one million cases of leptospirosis occur globally each year, resulting in ~60,000 deaths. The pathogenesis of severe leptospirosis is poorly understood but is believed to involve an interplay between genetic predisposition, pathogen virulence and dysregulated immune responses that trigger a cytokine storm with associated immunoparesis. Leptospira are susceptible to several low-cost antibiotics, including benzyl penicillin, doxycycline, cephalosporins and macrolides, when used in the early phase of infection. Late disease with organ dysfunction is treated with supportive care, and the benefit of antibiotics during late disease is doubtful. Very few countries have licensed a vaccine for human leptospirosis, and available vaccines only protect against rodent-associated serogroups. Exposure control by behavioural modifications and personal protective measures are the major preventative measures in leptospirosis, and the efficacy of prophylactic antibiotics has not been confirmed in clinical trials. Future research is needed to accurately estimate leptospirosis disease burden across the globe, to understand the pathophysiology of severe leptospirosis to inform the design of targeted immunotherapies and vaccines, and to develop cost-effective and accurate point-of-care diagnostics.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"32"},"PeriodicalIF":76.9,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144033839","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}
Cem Akin, Michel Arock, Melody C Carter, Tracy I George, Peter Valent
{"title":"Mastocytosis.","authors":"Cem Akin, Michel Arock, Melody C Carter, Tracy I George, Peter Valent","doi":"10.1038/s41572-025-00611-8","DOIUrl":"https://doi.org/10.1038/s41572-025-00611-8","url":null,"abstract":"<p><p>Mastocytosis is a spectrum of clonal myeloid disorders defined by abnormal growth and accumulation of mast cells in various organ systems. The disease is divided into cutaneous mastocytosis, systemic mastocytosis (SM) and mast cell sarcoma. SM is further categorized into several non-advanced and advanced forms. The prognosis of cutaneous mastocytosis and non-advanced SM is mostly favourable, whereas prognosis and survival in advanced SM and mast cell sarcoma are poor. During the past 15 years, major advances have been made in the diagnosis, prognosis and management of patients with mast cell neoplasms. Management of mastocytosis consists of symptomatic therapy, including anti-mast cell mediator drugs, and cytoreductive agents for patients with advanced disease and selected individuals with non-advanced disease, as well as recognition and prevention of comorbidities such as osteoporosis and anaphylaxis. The preclinical and clinical development of KIT-D816V-targeting drugs, such as midostaurin or avapritinib, mark a milestone in improving management, the quality of life and survival in patients with SM. These agents induce major responses or even remission in people with advanced SM and lead to rapid improvement of mediator-related symptoms and quality of life in symptomatic patients.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"30"},"PeriodicalIF":76.9,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144032627","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":"Navigating change with patients' well-being as the compass.","authors":"","doi":"10.1038/s41572-025-00618-1","DOIUrl":"https://doi.org/10.1038/s41572-025-00618-1","url":null,"abstract":"","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"28"},"PeriodicalIF":76.9,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020117","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}
Claire N Harrison, Tiziano Barbui, Prithviraj Bose, Jean-Jacques Kiladjian, John Mascarenhas, Mary Frances McMullin, Ruben Mesa, Alessandro M Vannucchi
{"title":"Polycythaemia vera.","authors":"Claire N Harrison, Tiziano Barbui, Prithviraj Bose, Jean-Jacques Kiladjian, John Mascarenhas, Mary Frances McMullin, Ruben Mesa, Alessandro M Vannucchi","doi":"10.1038/s41572-025-00608-3","DOIUrl":"https://doi.org/10.1038/s41572-025-00608-3","url":null,"abstract":"<p><p>Polycythaemia vera (PV) is a haematological malignancy in the myeloproliferative neoplasm family. PV is typically characterized by erythrocytosis and often leukocytosis and thrombocytosis<sup>1</sup>. Clinical features include reduced life expectancy due to hazards of thrombosis (often in atypical sites), haemorrhage and transformation to myelofibrosis and less frequently to a form of acute myeloid leukaemia called blast phase. Almost two decades ago, the JAK2<sup>V617F</sup> mutation in exon 14 of JAK2 was described, and is known to be present in more than 95% of patients with PV. Testing for the JAK2<sup>V617F</sup> mutation is used in the diagnosis of PV, and the quantity of the mutation (that is, the variant allele frequency) is linked to prognosis and the risk of complications. As such, reduction of JAK2<sup>V617F</sup> variant allele frequency is currently being evaluated as a treatment target. Recommendations for PV treatment include control of vascular risk factors, therapeutic phlebotomy and low-dose aspirin in all patients. Currently, patients at higher risk of thrombosis (aged over 60 years and/or with a history of thrombosis) are offered cytoreductive agents. Hydroxyurea or interferons remain the preferred first-line cytoreductive agents, with the JAK1 and JAK2 inhibitor, ruxolitinib, currently approved for the treatment of patients who are resistant to, or intolerant of, hydroxyurea. Future recommendations might be to treat the majority of patients with these agents as long-term benefits of treatment begin to emerge.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"26"},"PeriodicalIF":76.9,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144033427","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}
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