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http://dx.doi.org/10.1016/j.scib.2025.01.044 | DOI Listing |
Genet Med
August 2025
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.
Phenylketonuria (PKU) is an inherited metabolic disorder characterized by the accumulation of toxic phenylalanine levels in the brain that can lead to neurocognitive impairment if untreated. This review evaluates unmet needs in PKU, the importance of newborn screening (NBS), and considerations for chronic treatment options. An international group of experts reviewed the available literature across ethnicities and geographies to identify unmet needs of individuals with PKU.
View Article and Find Full Text PDFSci Bull (Beijing)
April 2025
Advanced Interdisciplinary Institute of Satellite Applications, State Key Laboratory of Earth Surface Processes and Hazards Risk Governance, Faculty of Geographical Science, Beijing Normal University, Beijing 100875, China. Electronic address:
KN J Cartogr Geogr Inf
December 2024
Department of Neuropsychology, Ruhr-University Bochum, Bochum, Germany.
When using navigation devices the "cognitive map" created in the user's mind is much more fragmented, incomplete and inaccurate, compared to the mental model of space created when reading a conventional printed map. As users become more dependent on digital devices that reduce orientation skills, there is an urgent need to develop more efficient navigation systems that promote orientation skills. This paper proposes to consider brain processes for creating more efficient maps that use a network of optimally located cardinal lines and landmarks organized to support and stabilize the neurocognitive structures in the brain that promote spatial orientation.
View Article and Find Full Text PDFEnviron Int
September 2024
Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, UK; MRC Centre for Environment and Health, School of Public Health, Imperial College London, UK; Mohn Centre for Children's Health and Wellbeing, School of Public Health, Imperial College London, UK; NIHR
Background: There is increasing evidence that air pollution and noise may have detrimental psychological impacts, but there are few studies evaluating adolescents, ground-level ozone exposure, multi-exposure models, or metrics beyond outdoor residential exposure. This study aimed to address these gaps.
Methods: Annual air pollution and traffic noise exposure at home and school were modelled for adolescents in the Greater London SCAMP cohort (N=7555).
J Locat Based Serv
December 2023
Department of Geography and Digital Society Initiative, University of Zürich, Zürich, Switzerland.
Well-designed, neuroadaptive mobile geographic information displays (namGIDs) could improve the lives of millions of mobile citizens of the mostly urban information society who daily need to make time critical and societally relevant decisions while navigating. What are the basic perceptual and neurocognitive processes with which individuals make movement decisions when guided by human- and context-adaptive namGIDs? How can we study this in an ecologically valid way, also outside of the highly controlled laboratory? We report first ideas and results from our unique neuroadaptive research agenda that brings us closer to answering this fundamental empirical question. We present our first implemented methodological solutions of novel ambulatory evaluation methods to study and improve Location-based System (LBS) displays, by critical examination of how perceptual, neurocognitive, psychophysiological, and display design factors might influence decision-making and spatial learning in pedestrian mobility across broad ranges of users and mobility contexts.
View Article and Find Full Text PDF