Progranulin AAV gene therapy for frontotemporal dementia: translational studies and phase 1/2 trial interim results
Nature Medicine
by Jeffrey Sevigny, Olga Uspenskaya, Laura Dean Heckman, Li Chin Wong, Daniel A. Hatch, Ambika Tewari, Rik Vandenberghe, David J. Irwin, Dario Saracino, Isabelle Le Ber, Rebekah Ahmed, Jonathan D. Rohrer, Adam L. Boxer, Sebastian Boland, Patricia Sheehan, Alissa Brandes, Suzanne R. Burstein, Benjamin M. Shykind, Sitharthan Kamalakaran, Carter W. Daniels, E. David Litwack, Erin Mahoney, Jenny Velaga, Ilan McNamara, Patricia Sondergaard, Syed A. Sajjad, Yvonne M. Kobayashi, Asa Abeliovich, Franz Hefti
3h ago
Nature Medicine, Published online: 14 May 2024; doi:10.1038/s41591-024-02973-0 Interim results from the low-dose cohort of the PROCLAIM trial show that AAV-based delivery of the progranulin gene in patients with frontotemporal dementia was safe and was associated with increased CSF progranulin ..read more
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Dynamics of cognitive variability with age and its genetic underpinning in NIHR BioResource Genes and Cognition cohort participants
Nature Medicine
by Md Shafiqur Rahman, Emma Harrison, Heather Biggs, Chloe Seikus, Paul Elliott, Gerome Breen, Nathalie Kingston, John R. Bradley, Steven M. Hill, Brian D. M. Tom, Patrick F. Chinnery
3h ago
Nature Medicine, Published online: 14 May 2024; doi:10.1038/s41591-024-02960-5 Cognitive variability with age has been examined in 21,051 recallable volunteers and has highlighted a potential role of microglia and glycogen metabolism in the individual differences in general cognitive ability ..read more
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Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals
Nature Medicine
by Alexander J. M. Dingemans, Sandra Jansen, Jeroen van Reeuwijk, Nicole de Leeuw, Rolph Pfundt, Janneke Schuurs-Hoeijmakers, Bregje W. van Bon, Carlo Marcelis, Charlotte W. Ockeloen, Marjolein Willemsen, Pleuntje J. van der Sluijs, Gijs W. E. Santen, R. Frank Kooy, Anneke T. Vulto-van Silfhout, Tjitske Kleefstra, David A. Koolen, Lisenka E. L. M. Vissers, Bert B. A. de Vries
3h ago
Nature Medicine, Published online: 14 May 2024; doi:10.1038/s41591-024-03005-7 Data from pediatric populations with neurodevelopmental disorders, obtained through a combinatorial strategy of literature review scoping and in-patient appointments, were used to construct a Phenomics Aggregation Database (PhenomAD-NDD) that can aid clinical diagnosis of comorbidities ..read more
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Trastuzumab deruxtecan in HER2-positive advanced gastric cancer: exploratory biomarker analysis of the randomized, phase 2 DESTINY-Gastric01 trial
Nature Medicine
by Kohei Shitara, Yung-Jue Bang, Satoru Iwasa, Naotoshi Sugimoto, Min-Hee Ryu, Daisuke Sakai, Hyun Cheol Chung, Hisato Kawakami, Hiroshi Yabusaki, Yasuhiro Sakamoto, Tomohiro Nishina, Koichiro Inaki, Yusuke Kuwahara, Naoya Wada, Fumitaka Suto, Takeo Arita, Masahiro Sugihara, Zenta Tsuchihashi, Kaku Saito, Akihito Kojima, Kensei Yamaguchi
3h ago
Nature Medicine, Published online: 14 May 2024; doi:10.1038/s41591-024-02992-x Exploratory analyses of the DESTINY-Gastric01 trial show that baseline HER2-associated biomarkers in circulating tumor DNA or tissue samples were associated with therapeutic response in patients with HER2-positive tumors, and these analyses identify potential drivers of resistance ..read more
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The efficacy of dapagliflozin in a hierarchical kidney outcome in heart failure
Nature Medicine
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3h ago
Nature Medicine, Published online: 13 May 2024; doi:10.1038/s41591-024-02974-z Dapagliflozin improved a hierarchical composite outcome, including death, a worsening kidney disease event, and estimated glomerular filtration rate slope, compared with placebo, in patients with heart failure. This hierarchical outcome — analyzed with win statistics — might provide the statistical power to evaluate the effect of treatments on kidney function in heart failure trials ..read more
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Gut bacteria switch A and B blood types to ‘universal’
Nature Medicine
by Karen O’Leary
1d ago
Nature Medicine, Published online: 13 May 2024; doi:10.1038/d41591-024-00034-0 Enzymes produced by Akkermansia muciniphila generated group O blood by degrading A and B antigens, which could help solve blood donor shortages in the future ..read more
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Artificial intelligence in surgery
Nature Medicine
by Chris Varghese, Ewen M. Harrison, Greg O’Grady, Eric J. Topol
1d ago
Nature Medicine, Published online: 13 May 2024; doi:10.1038/s41591-024-02970-3 This Review outlines the state of the art of artificial intelligence in the preoperative, intraoperative and postoperative settings, where it has enormous potential to improve patient outcomes, surgical education and system efficiencies ..read more
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High-resolution African HLA resource uncovers HLA-DRB1 expression effects underlying vaccine response
Nature Medicine
by Alexander J. Mentzer, Alexander T. Dilthey, Martin Pollard, Deepti Gurdasani, Emre Karakoc, Tommy Carstensen, Allan Muhwezi, Clare Cutland, Amidou Diarra, Ricardo da Silva Antunes, Sinu Paul, Gaby Smits, Susan Wareing, HwaRan Kim, Cristina Pomilla, Amanda Y. Chong, Debora Y. C. Brandt, Rasmus Nielsen, Samuel Neaves, Nicolas Timpson, Austin Crinklaw, Cecilia S. Lindestam Arlehamn, Anna Rautanen, Dennison Kizito, Tom Parks, Kathryn Auckland, Kate E. Elliott, Tara Mills, Katie Ewer, Nick Edwards, Segun Fatumo, Emily Webb, Sarah Peacock, Katie Jeffery, Fiona R. M. van der Klis, Pontiano Kaleebu, Pandurangan Vijayanand, Bjorn Peters, Alessandro Sette, Nezih Cereb, Sodiomon Sirima, Shabir A. Madhi, Alison M. Elliott, Gil McVean, Adrian V. S. Hill, Manjinder S. Sandhu
1d ago
Nature Medicine, Published online: 13 May 2024; doi:10.1038/s41591-024-02944-5 Genome-wide analyses of vaccine antibody responses in 2,499 infants from Uganda, South Africa and Burkina Faso identify associations between specific HLA genes and response to eight vaccines, providing insights that could be considered for population-adjusted vaccine design strategies ..read more
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Association between pretreatment emotional distress and immune checkpoint inhibitor response in non-small-cell lung cancer
Nature Medicine
by Yue Zeng, Chun-Hong Hu, Yi-Zheng Li, Jian-Song Zhou, Shu-Xing Wang, Meng-Dong Liu, Zhen-Hua Qiu, Chao Deng, Fang Ma, Chun-Fang Xia, Fei Liang, Yu-Rong Peng, Ao-Xi Liang, Sheng-Hao Shi, Shi-Jiao Yao, Jun-Qi Liu, Wen-Jie Xiao, Xiao-Qiao Lin, Xin-Yu Tian, Ying-Zhe Zhang, Zhuo-Ying Tian, Ji-An Zou, Yun-Shu Li, Chao-Yue Xiao, Tian Xu, Xiao-Jie Zhang, Xiao-Ping Wang, Xian-Ling Liu, Fang Wu
1d ago
Nature Medicine, Published online: 13 May 2024; doi:10.1038/s41591-024-02929-4 In a prospective observational study, symptoms of anxiety and/or depression were associated with worse response to first-line treatment with immunotherapy in patients with advanced non-small-cell lung cancer ..read more
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Screening and diagnosis of cardiovascular disease using artificial intelligence-enabled cardiac magnetic resonance imaging
Nature Medicine
by Yan-Ran (Joyce) Wang, Kai Yang, Yi Wen, Pengcheng Wang, Yuepeng Hu, Yongfan Lai, Yufeng Wang, Kankan Zhao, Siyi Tang, Angela Zhang, Huayi Zhan, Minjie Lu, Xiuyu Chen, Shujuan Yang, Zhixiang Dong, Yining Wang, Hui Liu, Lei Zhao, Lu Huang, Yunling Li, Lianming Wu, Zixian Chen, Yi Luo, Dongbo Liu, Pengbo Zhao, Keldon Lin, Joseph C. Wu, Shihua Zhao
1d ago
Nature Medicine, Published online: 13 May 2024; doi:10.1038/s41591-024-02971-2 A two-step, video-based deep learning model is developed to first screen for cardiac anomalies using noncontrast magnetic resonance imaging, followed by diagnosis of 11 types of cardiovascular disease using gadolinium enhancement-based imaging ..read more
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