Nature Medicine最新文献_第4页

Toward a biological definition of neuronal and glial synucleinopathies

IF 82.9 1区医学

Nature Medicine Pub Date : 2025-01-30 DOI: 10.1038/s41591-024-03469-7

Claudio Soto, Brit Mollenhauer, Oskar Hansson, Un Jung Kang, Roy N. Alcalay, David Standaert, Claudia Trenkwalder, Kenneth Marek, Douglas Galasko, Kathleen Poston

{"title":"Toward a biological definition of neuronal and glial synucleinopathies","authors":"Claudio Soto, Brit Mollenhauer, Oskar Hansson, Un Jung Kang, Roy N. Alcalay, David Standaert, Claudia Trenkwalder, Kenneth Marek, Douglas Galasko, Kathleen Poston","doi":"10.1038/s41591-024-03469-7","DOIUrl":"https://doi.org/10.1038/s41591-024-03469-7","url":null,"abstract":"Cerebral accumulation of alpha-synuclein (αSyn) aggregates is the hallmark event in a group of neurodegenerative diseases—collectively called synucleinopathies—which include Parkinson’s disease, dementia with Lewy bodies and multiple system atrophy. Currently, these are diagnosed by their clinical symptoms and definitively confirmed postmortem by the presence of αSyn deposits in the brain. Here, we summarize the drawbacks of the current clinical definition of synucleinopathies and outline the rationale for moving toward an earlier, biology-anchored definition of these disorders, with or without the presence of clinical symptoms. We underscore the utility of the αSyn seed amplification assay to detect aggregated αSyn in living patients and to differentiate between neuronal or glial αSyn pathology. We anticipate that a biological definition of synucleinopathies, if well-integrated with the current clinical classifications, will enable further understanding of the disease pathogenesis and contribute to the development of effective, disease-modifying therapies.","PeriodicalId":19037,"journal":{"name":"Nature Medicine","volume":"49 1","pages":""},"PeriodicalIF":82.9,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143056682","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}

引用次数: 0

Author Correction: In vivo base editing extends lifespan of a humanized mouse model of prion disease.

IF 58.7 1区医学

Nature Medicine Pub Date : 2025-01-30 DOI: 10.1038/s41591-025-03540-x

Meirui An, Jessie R Davis, Jonathan M Levy, Fiona E Serack, John W Harvey, Pamela P Brauer, Catherine P Pirtle, Kiara N Berríos, Gregory A Newby, Wei-Hsi Yeh, Nikita Kamath, Meredith Mortberg, Yuan Lian, Michael Howard, Kendrick DeSouza-Lenz, Kenia Guzman, Aaron Thai, Samantha Graffam, Vanessa Laversenne, Alissa A Coffey, Jeannine Frei, Sarah E Pierce, Jiri G Safar, Benjamin E Deverman, Eric Vallabh Minikel, Sonia M Vallabh, David R Liu

引用次数: 0

A roadmap for engagement and inclusion of LGBTQIA+ people in clinical research

IF 82.9 1区医学

Nature Medicine Pub Date : 2025-01-29 DOI: 10.1038/s41591-024-03471-z

Brady D. Hanshaw, Hilary Goldhammer, Mark Wildgust, Shir Netanel, Amy Ben‑Arieh, Alex S. Keuroghlian

引用次数: 0

An online multidomain lifestyle intervention to prevent cognitive decline in at-risk older adults: a randomized controlled trial

IF 82.9 1区医学

Nature Medicine Pub Date : 2025-01-28 DOI: 10.1038/s41591-024-03351-6

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

{"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":"https://doi.org/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.","PeriodicalId":19037,"journal":{"name":"Nature Medicine","volume":"206 1","pages":""},"PeriodicalIF":82.9,"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}

引用次数: 0

Author Correction: Burdens of type 2 diabetes and cardiovascular disease attributable to sugar-sweetened beverages in 184 countries

IF 82.9 1区医学

Nature Medicine Pub Date : 2025-01-28 DOI: 10.1038/s41591-025-03524-x

Laura Lara-Castor, Meghan O’Hearn, Frederick Cudhea, Victoria Miller, Peilin Shi, Jianyi Zhang, Julia R. Sharib, Sean B. Cash, Simon Barquera, Renata Micha, Dariush Mozaffarian

引用次数: 0

Population-based, first-tier genomic newborn screening in the maternity ward

IF 82.9 1区医学

Nature Medicine Pub Date : 2025-01-28 DOI: 10.1038/s41591-024-03465-x

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

{"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":"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 AGXT 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.","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}

引用次数: 0

Democratizing precision oncology with SCORPIO

IF 82.9 1区医学

Nature Medicine Pub Date : 2025-01-28 DOI: 10.1038/s41591-025-03514-z

引用次数: 0

The Marburg virus outbreak is a critical moment for Rwanda’s one health policy

IF 82.9 1区医学

Nature Medicine Pub Date : 2025-01-28 DOI: 10.1038/s41591-024-03473-x

Phaedra Henley, Anselme Shyaka

{"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":"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.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 virus2,4. 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.","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}

引用次数: 0

Intermittent fasting is good for losing (some) weight 间歇性禁食有利于减轻（部分）体重

IF 82.9 1区医学

Nature Medicine Pub Date : 2025-01-28 DOI: 10.1038/s41591-024-03468-8

Olivia M. Altonji, Courtney M. Peterson

引用次数: 0

Estimating future heat-related and cold-related mortality under climate change, demographic and adaptation scenarios in 854 European cities

IF 82.9 1区医学

Nature Medicine Pub Date : 2025-01-27 DOI: 10.1038/s41591-024-03452-2

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

{"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":"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.","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}

引用次数: 0