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http://dx.doi.org/10.3265/Nefrologia.pre2011.Dec.11311 | DOI Listing |
Glob Health Res Policy
January 2025
Center for Public Health and Epidemic Preparedness and Response, Peking University, Haidian District, 38Th Xueyuan Road, Beijing, 100191, China.
Background: As population aging intensifies, it becomes increasingly important to elucidate the casual relationship between aging and changes in population health. Therefore, our study proposed to develop a systematic attribution framework to comprehensively evaluate the health impacts of population aging.
Methods: We used health-adjusted life expectancy (HALE) to measure quality of life and disability-adjusted life years (DALY) to quantify the burden of disease for the population of Guangzhou.
Hum Genomics
January 2025
Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.
Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.
Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).
BMC Health Serv Res
January 2025
College of Pharmacy, Gyeongsang National University, 501 Jinju-Daero, Jinju, 52828, Republic of Korea.
Background: Innovative health technologies have increasingly emerged as a promising solution for patients with untreatable or challenging conditions. However, these technologies often come with expensive costs and limited evidence at the time of launch. This study assessed how these high-priced drugs with limited evidence were appraised and introduced in South Korea, England, Australia, and Canada, where cost-effectiveness analysis (CEA) generally plays a central role in pricing and reimbursement decisions.
View Article and Find Full Text PDFNat Commun
January 2025
School of Chemistry and Chemical Engineering, New Cornerstone Science Laboratory, Frontiers Science Center for Transformative Molecules, National Center for Translational Medicine, Shanghai Jiao Tong University, Shanghai, China.
Chip scale DNA synthesis offers a high-throughput and cost-effective method for large-scale DNA-based information storage. Nevertheless, unbiased information retrieval from low-copy-number sequences remains a barricade that largely arises from the indispensable DNA amplification. Here, we devise a simulation-guided quantitative primer-template hybridization strategy to realize massively parallel homogeneous amplification of chip-scale DNA for DNA information storage (MPHAC-DIS).
View Article and Find Full Text PDFSci Data
January 2025
State Key Joint Laboratory of Environment Simulation and Pollution Control (SKLESPC), School of Environment, Tsinghua University, Beijing, 100084, China.
Assessing the dynamics of offshore wind potential and costs is essential for low-carbon energy policy decision-making and energy modeling, but no open-source, spatial explicit and technologically detailed dataset is available. This study addresses this gap by employing a consistent assessment framework that integrates GIS analysis, a wind reanalysis model, a component-based cost model and scenario analysis. It identifies suitable space for offshore wind deployment considering 12 technical and policy constraints, estimates hourly output curves, capacity factors, and technology cost dynamics by components across 5058 grid points with a 10 km resolution from 2020 to 2035 under three technical change scenarios.
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