Nature Medicine最新文献

{"title":"An online multidomain lifestyle intervention to prevent cognitive decline in at-risk older adults: a randomized controlled trial","authors":"Henry Brodaty, Tiffany Chau, Megan Heffernan, Jeewani A. Ginige, Gavin Andrews, Michael Millard, Perminder S. Sachdev, Kaarin J. Anstey, Nicola T. Lautenschlager, John J. McNeil, Louisa Jorm, Nicole A. Kochan, Anthony Maeder, Heidi Welberry, Juan Carlo San Jose, Nancy E. Briggs, Gordana Popovic, Yorgi Mavros, Carolina Almendrales Rangel, Yian Noble, Sue Radd-Vagenas, Victoria M. Flood, Fiona O’Leary, Amit Lampit, Courtney C. Walton, Polly Barr, Maria Fiatarone Singh, Michael Valenzuela","doi":"10.1038/s41591-024-03351-6","DOIUrl":"10.1038/s41591-024-03351-6","url":null,"abstract":"Effective, scalable dementia prevention interventions are needed to address modifiable risk factors given global burden of dementia and challenges in developing disease-modifying treatments. A single-blind randomized controlled trial assessed an online multidomain lifestyle intervention to prevent cognitive decline over 3 years. Participants were dementia-free community-dwelling Australians aged 55–77 years with modifiable dementia risk factors. Eligible participants (n = 6,104, 64% female) were randomized 1:1 to a personalized schedule of online coaching in two to four modules (targeting physical activity, nutrition, cognitive activity and depression or anxiety) or a control group that received module-eligible information only. At 3 years, the mean change in a global cognitive composite, the primary outcome, was met. The mean changes in z scores were 0.28 (95% confidence interval (CI): 0.25–0.32) for intervention, 0.10 (95% CI: 0.07–0.13) for control and 0.18 (95% CI: 0.13–0.23, P < 0.001) for the between-group difference. Trial-related adverse events occurred in 19 (0.60%) intervention and 1 (0.03%) control participant. Randomization of this internet-delivered lifestyle intervention tailored to individual dementia risk factors resulted in significantly better cognition in older adults over 3 years. This intervention is scalable with the potential for population-level rollout that may delay cognitive decline in the general community. Australian New Zealand ClinicalTrials.gov registration: ACTRN12618000851268. An online tailored coaching intervention, delivered over 3 years, improved global cognition, dementia risk, physical activity, nutrition and depression in older dementia-free community-dwelling individuals.","PeriodicalId":19037,"journal":{"name":"Nature Medicine","volume":"31 2","pages":"565-573"},"PeriodicalIF":58.7,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143050458","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":"Population-based, first-tier genomic newborn screening in the maternity ward","authors":"François Boemer, Kristine Hovhannesyan, Flavia Piazzon, Frédéric Minner, Myriam Mni, Valérie Jacquemin, Davood Mashhadizadeh, Noor Benmhammed, Vincent Bours, Adeline Jacquinet, Julie Harvengt, Saskia Bulk, Vinciane Dideberg, Laura Helou, Leonor Palmeira, Tamara Dangouloff, Laurent Servais","doi":"10.1038/s41591-024-03465-x","DOIUrl":"https://doi.org/10.1038/s41591-024-03465-x","url":null,"abstract":"<p>The rapid development of therapies for severe and rare genetic conditions underlines the need to incorporate first-tier genetic testing into newborn screening (NBS) programs. A workflow was developed to screen newborns for 165 treatable pediatric disorders by deep sequencing of regions of interest in 405 genes. The prospective observational BabyDetect pilot project was launched in September 2022 in a maternity ward of a public hospital in the Liege area, Belgium. In this ongoing observational study, 4,260 families have been informed of the project, and 3,847 consented to participate. To date, 71 disease cases have been identified, 30 of which were not detected by conventional NBS. Glucose-6-phosphate dehydrogenase deficiency was the most frequent disorder detected, with 44 positive individuals. Of the remaining 27 cases, 17 were recessive disorders. We also identified one false-positive case in a newborn in whom two variants in the <i>AGXT</i> gene were identified, which were subsequently shown to be located on the maternal allele. Nine heterozygous variants were identified in genes associated with dominant conditions. Results from the BabyDetect project demonstrate the importance of integrating biochemical and genomic methods in NBS programs. Challenges must be addressed in variant interpretation within a presymptomatic population and in result reporting and diagnostic confirmation.</p>","PeriodicalId":19037,"journal":{"name":"Nature Medicine","volume":"35 1","pages":""},"PeriodicalIF":82.9,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143050132","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: Burdens of type 2 diabetes and cardiovascular disease attributable to sugar-sweetened beverages in 184 countries","authors":"Laura Lara-Castor,&nbsp;Meghan O’Hearn,&nbsp;Frederick Cudhea,&nbsp;Victoria Miller,&nbsp;Peilin Shi,&nbsp;Jianyi Zhang,&nbsp;Julia R. Sharib,&nbsp;Sean B. Cash,&nbsp;Simon Barquera,&nbsp;Renata Micha,&nbsp;Dariush Mozaffarian,&nbsp;Global Dietary Database","doi":"10.1038/s41591-025-03524-x","DOIUrl":"10.1038/s41591-025-03524-x","url":null,"abstract":"","PeriodicalId":19037,"journal":{"name":"Nature Medicine","volume":"31 2","pages":"696-696"},"PeriodicalIF":58.7,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s41591-025-03524-x.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143050039","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":"Democratizing precision oncology with SCORPIO","authors":"","doi":"10.1038/s41591-025-03514-z","DOIUrl":"https://doi.org/10.1038/s41591-025-03514-z","url":null,"abstract":"SCORPIO is a machine learning system that predicts the efficacy of therapy with immune checkpoint inhibitors in patients with cancer, using only routine blood tests and basic clinical data. Predictions using SCORPIO were more accurate than those using FDA-approved biomarkers such as tumor mutational burden and PD-L1 expression, suggesting that SCORPIO offers a reliable, noninvasive and widely accessible tool to advance precision oncology for patients globally.","PeriodicalId":19037,"journal":{"name":"Nature Medicine","volume":"170 1","pages":""},"PeriodicalIF":82.9,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143054773","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":"The Marburg virus outbreak is a critical moment for Rwanda’s one health policy","authors":"Phaedra Henley, Anselme Shyaka","doi":"10.1038/s41591-024-03473-x","DOIUrl":"https://doi.org/10.1038/s41591-024-03473-x","url":null,"abstract":"<p>The Marburg virus disease (MVD) outbreak in Rwanda underscores the serious threat posed by zoonotic diseases. These pathogens, which are transmitted between animals and humans through direct contact or environmental factors, result in an estimated 2.4 billion infections and 2.2 million deaths annually¹. MVD, which originates from bats, can spread rapidly to humans, with a fatality rate as high as 88%². As of 10 October 2024, Rwanda has 58 confirmed cases of MVD, including 15 deaths³. This crisis highlights the urgent need for Rwanda to fully operationalize its One Health policy to address the interconnected risks of human, animal and environmental health.</p><p>Outbreaks of MVD occur when humans are in contact with infected animals, including green monkeys, pigs and Egyptian fruit bats, which are known carriers of the virus^2,4. After zoonotic spillover (when the virus transmits from animals to humans), it can spread between humans through bodily fluids or contaminated surfaces such as bedding². While isolating cases and implementing public health measures are crucial, preventing future outbreaks requires an integrated One Health approach to mitigate the risks of MVD and other zoonotic diseases.</p>","PeriodicalId":19037,"journal":{"name":"Nature Medicine","volume":"35 1","pages":""},"PeriodicalIF":82.9,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143050424","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":"Intermittent fasting is good for losing (some) weight","authors":"Olivia M. Altonji,&nbsp;Courtney M. Peterson","doi":"10.1038/s41591-024-03468-8","DOIUrl":"10.1038/s41591-024-03468-8","url":null,"abstract":"A large, randomized controlled trial comparing three time-restricted eating (TRE) windows found that time-restricted eating at any time of day is a promising strategy for losing weight — but does not reduce visceral adipose tissue.","PeriodicalId":19037,"journal":{"name":"Nature Medicine","volume":"31 2","pages":"384-385"},"PeriodicalIF":58.7,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143050131","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":"Estimating future heat-related and cold-related mortality under climate change, demographic and adaptation scenarios in 854 European cities","authors":"Pierre Masselot, Malcolm N. Mistry, Shilpa Rao, Veronika Huber, Ana Monteiro, Evangelia Samoli, Massimo Stafoggia, Francesca de’Donato, David Garcia-Leon, Juan-Carlos Ciscar, Luc Feyen, Alexandra Schneider, Klea Katsouyanni, Ana Maria Vicedo-Cabrera, Kristin Aunan, Antonio Gasparrini","doi":"10.1038/s41591-024-03452-2","DOIUrl":"https://doi.org/10.1038/s41591-024-03452-2","url":null,"abstract":"<p>Previous health impact assessments of temperature-related mortality in Europe indicated that the mortality burden attributable to cold is much larger than for heat. Questions remain as to whether climate change can result in a net decrease in temperature-related mortality. In this study, we estimated how climate change could affect future heat-related and cold-related mortality in 854 European urban areas, under several climate, demographic and adaptation scenarios. We showed that, with no adaptation to heat, the increase in heat-related deaths consistently exceeds any decrease in cold-related deaths across all considered scenarios in Europe. Under the lowest mitigation and adaptation scenario (SSP3-7.0), we estimate a net death burden due to climate change increasing by 49.9% and cumulating 2,345,410 (95% confidence interval = 327,603 to 4,775,853) climate change-related deaths between 2015 and 2099. This net effect would remain positive even under high adaptation scenarios, whereby a risk attenuation of 50% is still insufficient to reverse the trend under SSP3-7.0. Regional differences suggest a slight net decrease of death rates in Northern European countries but high vulnerability of the Mediterranean region and Eastern Europe areas. Unless strong mitigation and adaptation measures are implemented, most European cities should experience an increase of their temperature-related mortality burden.</p>","PeriodicalId":19037,"journal":{"name":"Nature Medicine","volume":"49 1","pages":""},"PeriodicalIF":82.9,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143050425","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":"Phenome-wide associations of sleep characteristics in the Human Phenotype Project","authors":"Sarah Kohn, Alon Diament, Anastasia Godneva, Raja Dhir, Adina Weinberger, Yotam Reisner, Hagai Rossman, Eran Segal","doi":"10.1038/s41591-024-03481-x","DOIUrl":"https://doi.org/10.1038/s41591-024-03481-x","url":null,"abstract":"<p>Sleep tests commonly diagnose sleep disorders, but the diverse sleep-related biomarkers recorded by such tests can also provide broader health insights. In this study, we leveraged the uniquely comprehensive data from the Human Phenotype Project cohort, which includes 448 sleep characteristics collected from 16,812 nights of home sleep apnea test monitoring in 6,366 adults (3,043 male and 3,323 female participants), to study associations between sleep traits and body characteristics across 16 body systems. In this analysis, which identified thousands of significant associations, visceral adipose tissue (VAT) was the body characteristic that was most strongly correlated with the peripheral apnea–hypopnea index, as adjusted by sex, age and body mass index (BMI). Moreover, using sleep characteristics, we could predict over 15% of body characteristics, spanning 15 of the 16 body systems, in a held-out set of individuals. Notably, sleep characteristics contributed more to the prediction of certain insulin resistance, blood lipids (such as triglycerides) and cardiovascular measurements than to the characteristics of other body systems. This contribution was independent of VAT, as sleep characteristics outperformed age, BMI and VAT as predictors for these measurements in both male and female participants. Gut microbiome-related pathways and diet (especially for female participants) were notably predictive of clinical obstructive sleep apnea symptoms, particularly sleepiness, surpassing the prediction power of age, BMI and VAT on these symptoms. Together, lifestyle factors contributed to the prediction of over 50% of the sleep characteristics. This work lays the groundwork for exploring the associations of sleep traits with body characteristics and developing predictive models based on sleep monitoring.</p>","PeriodicalId":19037,"journal":{"name":"Nature Medicine","volume":"4 1","pages":""},"PeriodicalIF":82.9,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143044091","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":"Long-term liver outcomes after metabolic surgery in compensated cirrhosis due to metabolic dysfunction-associated steatohepatitis","authors":"Ali Aminian, Abdullah Aljabri, Sarah Wang, James Bena, Daniela S. Allende, Hana Rosen, Eileen Arnold, Rickesha Wilson, Alex Milinovich, Rohit Loomba, Arun J. Sanyal, Naim Alkhouri, Jamile Wakim-Fleming, Sobia N. Laique, Srinivasan Dasarathy, Arthur J. McCullough, Steven E. Nissen","doi":"10.1038/s41591-024-03480-y","DOIUrl":"https://doi.org/10.1038/s41591-024-03480-y","url":null,"abstract":"<p>No therapy has been shown to reduce the risk of major adverse liver outcomes (MALO) in patients with cirrhosis due to metabolic dysfunction-associated steatohepatitis (MASH). The Surgical Procedures Eliminate Compensated Cirrhosis In Advancing Long-term (SPECCIAL) observational study compared the effects of metabolic surgery and nonsurgical treatment in patients with obesity and compensated histologically proven MASH-related cirrhosis. Using a doubly robust estimation methodology to balance key baseline characteristics between groups, the time-to-incident MALO was compared between 62 patients (68% female) who underwent metabolic surgery and 106 nonsurgical controls (71% female), with a mean follow-up of 10.0 ± 4.5 years. The 15 year cumulative incidence of MALO was 20.9% (95% confidence interval (CI), 2.5–35.9%) in the surgical group compared with 46.4% (95% CI, 25.6–61.3%) in the nonsurgical group, with an adjusted hazard ratio of 0.28 (95% CI, 0.12–0.64), <i>P</i> = 0.003. The 15 year cumulative incidence of decompensated cirrhosis was 15.6% (95% CI, 0–31.3%) in the surgical group compared with 30.7% (95% CI, 12.9–44.8%) in the nonsurgical group, with an adjusted hazard ratio of 0.20 (95% CI, 0.06–0.68), <i>P</i> = 0.01. Among patients with compensated MASH-related cirrhosis and obesity, metabolic surgery, compared with nonsurgical management, was associated with a significantly lower risk of incident MALO. In the absence of approved medical therapies for compensated MASH-related cirrhosis, metabolic surgery may represent a safe and effective therapeutic option to influence the trajectory of cirrhosis.</p>","PeriodicalId":19037,"journal":{"name":"Nature Medicine","volume":"174 1","pages":""},"PeriodicalIF":82.9,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143044090","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":"Encorafenib, cetuximab and chemotherapy in BRAF-mutant colorectal cancer: a randomized phase 3 trial","authors":"Scott Kopetz, Takayuki Yoshino, Eric Van Cutsem, Cathy Eng, Tae Won Kim, Harpreet Singh Wasan, Jayesh Desai, Fortunato Ciardiello, Rona Yaeger, Timothy S. Maughan, Elena Beyzarov, Xiaoxi Zhang, Graham Ferrier, Xiaosong Zhang, Josep Tabernero","doi":"10.1038/s41591-024-03443-3","DOIUrl":"https://doi.org/10.1038/s41591-024-03443-3","url":null,"abstract":"<p>Encorafenib + cetuximab (EC) is approved for previously treated BRAF V600E-mutant metastatic colorectal cancer (mCRC) based on the BEACON phase 3 study. Historically, first-line treatment of BRAF V600E-mutant mCRC with chemotherapy regimens has had limited efficacy. The phase 3 BREAKWATER study investigated EC+mFOLFOX6 versus standard of care (SOC) in patients with previously untreated BRAF V600E mCRC. The dual primary endpoint of progression-free survival is event driven; data were not mature at data cutoff. BREAKWATER met the other dual primary endpoint of objective response rate, demonstrating significant and clinically relevant improvement in objective response rate (EC+mFOLFOX6: 60.9%; SOC: 40.0%; odds ratio, 2.443; 95% confidence interval (CI): 1.403–4.253; 99.8% CI: 1.019–5.855; one-sided <i>P</i> = 0.0008). Median duration of response was 13.9 versus 11.1 months. At this first interim analysis of overall survival, the hazard ratio was 0.47 (95% CI: 0.318–0.691; repeated CI: 0.166–1.322). Serious adverse event rates were 37.7% versus 34.6%. The safety profiles were consistent with those known for each agent. BREAKWATER demonstrated a significantly improved response rate that was durable for first-line EC+mFOLFOX6 versus SOC in patients with BRAF V600E mCRC. ClinicalTrials.gov identifier: NCT04607421.</p>","PeriodicalId":19037,"journal":{"name":"Nature Medicine","volume":"10 1","pages":""},"PeriodicalIF":82.9,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143035159","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}