Alpaslan Tasdogan, Ryan J Sullivan, Alexander Katalinic, Celeste Lebbe, Dagmar Whitaker, Susana Puig, Lonneke V van de Poll-Franse, Daniela Massi, Dirk Schadendorf
{"title":"Cutaneous melanoma.","authors":"Alpaslan Tasdogan, Ryan J Sullivan, Alexander Katalinic, Celeste Lebbe, Dagmar Whitaker, Susana Puig, Lonneke V van de Poll-Franse, Daniela Massi, Dirk Schadendorf","doi":"10.1038/s41572-025-00603-8","DOIUrl":"https://doi.org/10.1038/s41572-025-00603-8","url":null,"abstract":"<p><p>Cutaneous melanoma is a common cancer in Australia and New Zealand, Europe, and North America, and its incidence is still increasing in many regions. Ultraviolet (UV) radiation exposure (for example, through excessive sunlight exposure) remains the primary risk factor for melanoma; however, public awareness campaigns have led to a marked reduction in mortality. In addition to genetic damage from UV radiation, specific genetic alterations have been linked to melanoma. The stage of the tumour at the time of diagnosis is of greater importance for melanoma prognosis than in almost any other cancer. Context-dependent genetic mutations that attenuate tumour-suppressive mechanisms or activate growth-promoting signalling pathways are crucial factors in the development of cutaneous melanoma. In addition to external factors such as UV radiation, the tumour microenvironment can contribute to melanoma progression, invasion and metastasis. Cutaneous melanoma treatment has improved considerably over the past decade with the discovery and development of immune checkpoint inhibitors and therapy targeting BRAF and MEK. Over the next decade, several priorities are likely to influence melanoma research and management, including the continued advance of precision medicine methods to identify the most suitable patients for the most effective treatment, with the aim of improving clinical outcomes.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"23"},"PeriodicalIF":76.9,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143780638","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}
Andreas Traweger, Alex Scott, Michael Kjaer, Evi Wezenbeek, Rodrigo Scattone Silva, John G Kennedy, James J Butler, Manuel Gomez-Florit, Manuela E Gomes, Jess G Snedeker, Stephanie G Dakin, Britt Wildemann
{"title":"Achilles tendinopathy.","authors":"Andreas Traweger, Alex Scott, Michael Kjaer, Evi Wezenbeek, Rodrigo Scattone Silva, John G Kennedy, James J Butler, Manuel Gomez-Florit, Manuela E Gomes, Jess G Snedeker, Stephanie G Dakin, Britt Wildemann","doi":"10.1038/s41572-025-00602-9","DOIUrl":"https://doi.org/10.1038/s41572-025-00602-9","url":null,"abstract":"<p><p>Achilles tendon pathologies are prevalent, impacting ~6% of the general population and up to 50% of elite endurance runners over their lifetimes. These conditions substantially affect quality of life and work productivity, leading to substantial societal costs. Achilles tendinopathy (AT) is a condition marked by localized pain and functional impairment related to mechanical loading. AT can considerably impair participation and potentially also performance in sports and daily activities. The aetiology of AT is multifactorial and repetitive overloading of the tendon is often observed as the inciting factor by health professionals. However, AT can also be associated with adverse effects of certain medication, ageing and various comorbidities. Characteristic tendon changes include proteoglycan accumulation, fluid accumulation with swelling and hypervascularization. Tissue disorganization advances as pathological changes in matrix structure are driven by altered cellular function and makeup, often accompanied by persistent inflammation. Treatment strategies include various interventions, although these can be protracted and challenging for both patients and health-care providers, often with high failure rates. Current research focuses on understanding the pathological processes at the cellular and molecular levels to distinguish between disease categories and to investigate the role of inflammation, metabolic maladaptation and mechanical stress. Emerging therapeutic approaches need to be developed to address these underlying mechanisms. These approaches focus on optimizing rehabilitation protocols and advancing the development of adjunct therapies, such as advanced therapy medicinal products, alongside the integration of precision medicine to improve treatment outcomes.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"20"},"PeriodicalIF":76.9,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143730812","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}
Wendy A Gold, Alan K Percy, Jeffrey L Neul, Stuart R Cobb, Lucas Pozzo-Miller, Jasmeen K Issar, Bruria Ben-Zeev, Aglaia Vignoli, Walter E Kaufmann
{"title":"Publisher Correction: Rett syndrome.","authors":"Wendy A Gold, Alan K Percy, Jeffrey L Neul, Stuart R Cobb, Lucas Pozzo-Miller, Jasmeen K Issar, Bruria Ben-Zeev, Aglaia Vignoli, Walter E Kaufmann","doi":"10.1038/s41572-025-00610-9","DOIUrl":"https://doi.org/10.1038/s41572-025-00610-9","url":null,"abstract":"","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"19"},"PeriodicalIF":76.9,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701107","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}
Michael P Manns, Annika Bergquist, Tom H Karlsen, Cynthia Levy, Andrew J Muir, Cyriel Ponsioen, Michael Trauner, Grace Wong, Zobair M Younossi
{"title":"Primary sclerosing cholangitis.","authors":"Michael P Manns, Annika Bergquist, Tom H Karlsen, Cynthia Levy, Andrew J Muir, Cyriel Ponsioen, Michael Trauner, Grace Wong, Zobair M Younossi","doi":"10.1038/s41572-025-00600-x","DOIUrl":"https://doi.org/10.1038/s41572-025-00600-x","url":null,"abstract":"<p><p>Primary sclerosing cholangitis (PSC) is a chronic biliary inflammation associated with periductular fibrosis of the intrahepatic and extrahepatic bile ducts leading to strictures, bacterial cholangitis, decompensated liver disease and need for liver transplantation. This rare focal liver disease affects all races and ages, with a predominance of young males. There is an up to 88% association with inflammatory bowel disease. Although the aetiology is unknown and the pathophysiology is poorly understood, PSC is regarded as an autoimmune liver disease based on a strong immunogenetic background. Further, the associated risk for various malignancies, particularly cholangiocellular carcinoma, is also poorly understood. No medical therapy has been approved so far nor has been shown to improve transplant-free survival. However, ursodeoxycholic acid is widely used since it improves the biochemical parameters of cholestasis and is safe at low doses. MRI of the biliary tract is the primary imaging technology for diagnosis. Endoscopic interventions of the bile ducts should be limited to clinically relevant strictures for balloon dilatation, biopsy and brush cytology. End-stage liver disease with decompensation is an indication for liver transplantation with recurrent PSC in up to 38% of patients. Several novel therapeutic strategies are in various stages of development, including apical sodium-dependent bile acid transporter and ileal bile acid transporter inhibitors, integrin inhibitors, peroxisome proliferator-activated receptor agonists, CCL24 blockers, recombinant FGF19, CCR2/CCR5 inhibitors, farnesoid X receptor bile acid receptor agonists, and nor-ursodeoxycholic acid. Manipulation of the gut microbiome includes faecal microbiota transplantation. This article summarizes present knowledge and defines unmet medical needs to improve quality of life and survival.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"17"},"PeriodicalIF":76.9,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625309","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}
Daniel Q Huang, Vincent W S Wong, Mary E Rinella, Jerome Boursier, Jeffrey V Lazarus, Hannele Yki-Järvinen, Rohit Loomba
{"title":"Metabolic dysfunction-associated steatotic liver disease in adults.","authors":"Daniel Q Huang, Vincent W S Wong, Mary E Rinella, Jerome Boursier, Jeffrey V Lazarus, Hannele Yki-Järvinen, Rohit Loomba","doi":"10.1038/s41572-025-00599-1","DOIUrl":"10.1038/s41572-025-00599-1","url":null,"abstract":"<p><p>Metabolic dysfunction-associated steatotic liver disease (MASLD) is the umbrella term that comprises metabolic dysfunction-associated steatotic liver, or isolated hepatic steatosis, through to metabolic dysfunction-associated steatohepatitis, the progressive necroinflammatory disease form that can progress to fibrosis, cirrhosis and hepatocellular carcinoma. MASLD is estimated to affect more than one-third of adults worldwide. MASLD is closely associated with insulin resistance, obesity, gut microbial dysbiosis and genetic risk factors. The obesity epidemic and the growing prevalence of type 2 diabetes mellitus greatly contribute to the increasing burden of MASLD. The treatment and prevention of major metabolic comorbidities such as type 2 diabetes mellitus and obesity will probably slow the growth of MASLD. In 2023, the field decided on a new nomenclature and agreed on a set of research and action priorities, and in 2024, the US FDA approved the first drug, resmetirom, for the treatment of non-cirrhotic metabolic dysfunction-associated steatohepatitis with moderate to advanced fibrosis. Reliable, validated biomarkers that can replace histology for patient selection and primary end points in MASH trials will greatly accelerate the drug development process. Additionally, noninvasive tests that can reliably determine treatment response or predict response to therapy are warranted. Sustained efforts are required to combat the burden of MASLD by tackling metabolic risk factors, improving risk stratification and linkage to care, and increasing access to therapeutic agents and non-pharmaceutical interventions.</p>","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"14"},"PeriodicalIF":76.9,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573176","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}
Hossein Akbarialiabad, Enno Schmidt, Aikaterini Patsatsi, Yen Loo Lim, Anisa Mosam, Kaisa Tasanen, Jun Yamagami, Maryam Daneshpazhooh, Dipankar De, Adela Rambi G Cardones, Pascal Joly, Dedee F Murrell
{"title":"Author Correction: Bullous pemphigoid.","authors":"Hossein Akbarialiabad, Enno Schmidt, Aikaterini Patsatsi, Yen Loo Lim, Anisa Mosam, Kaisa Tasanen, Jun Yamagami, Maryam Daneshpazhooh, Dipankar De, Adela Rambi G Cardones, Pascal Joly, Dedee F Murrell","doi":"10.1038/s41572-025-00605-6","DOIUrl":"https://doi.org/10.1038/s41572-025-00605-6","url":null,"abstract":"","PeriodicalId":18910,"journal":{"name":"Nature Reviews Disease Primers","volume":"11 1","pages":"16"},"PeriodicalIF":76.9,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143542609","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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