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Oligogenic risk score for Gilles de la Tourette syndrome reveals a genetic continuum of tic disorders.
J Appl Genet
January 2025
Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, Pawińskiego 5, 02-106, Warsaw, Poland.
Gilles de la Tourette syndrome (GTS) and other tic disorders (TDs) have a substantial genetic component with their heritability estimated at between 60 and 80%. Here we propose an oligogenic risk score of TDs using whole-genome sequencing (WGS) data from a group of Polish GTS patients, their families, and control samples (n = 278). In this study, we first reviewed the literature to obtain a preliminary list of 84 GTS/TD candidate genes.
View Article and Find Full Text PDFGenetic investigation of hydrogenases in suggests that redox balance via hydrogen cycling enables high ethanol yield.
Appl Environ Microbiol
January 2025
Centro de Engenharia Genética e Biologia Molecular (CBMEG), Universidade Estadual de Campinas (UNICAMP), Campinas, São Paulo, Brazil.
Unlabelled: is an anaerobic and thermophilic bacterium that has been genetically engineered for ethanol production at very high yields. However, the underlying reactions responsible for electron flow, redox equilibrium, and how they relate to ethanol production in this microbe are not fully elucidated. Therefore, we performed a series of genetic manipulations to investigate the contribution of hydrogenase genes to high ethanol yield, generating evidence for the importance of hydrogen-reacting enzymes in ethanol production.
View Article and Find Full Text PDFRural-Urban Disparities in Mobile Health Application Ownership and Utilization Among Cancer Survivors.
Med Care
February 2025
Fogelman College of Business and Economics, The University of Memphis, Memphis, TN.
Objective: Mobile health applications (mHealth apps) can provide health care and health-promoting information while contributing to improving cancer survivors' quality of life and health outcomes. However, little is known about the rural-urban distribution of mHealth app ownership and utilization. In this study, we explore the characteristics of cancer survivors who own and use mHealth apps and examine rural-urban disparities in mHealth app ownership and utilization among cancer survivors.
View Article and Find Full Text PDFA Complex Intervention to Minimize Medication Error by Nurses in Intensive Care: A Case Study.
Healthcare (Basel)
January 2025
School of Health Sciences, Polytechnic of Leiria, Rua General Norton de Matos, Apartado 4133, 2411-901 Leiria, Portugal.
Medication errors are the most frequent and critical issues in healthcare settings, often leading to worsened clinical outcomes, increased treatment costs, extended hospital stays, and heightened mortality and morbidity rates. These errors are particularly prevalent in intensive care units (ICUs), where the complexity and critical nature of the care elevate the risks. Nurses play a pivotal role in preventing medication errors and require strategies and methods to enhance patient safety.
View Article and Find Full Text PDFAn Ontology-Based Approach for Understanding Appendicectomy Processes and Associated Resources.
Healthcare (Basel)
December 2024
Centre for Digital Transformation, School of Computing and Information Technology, University of Wollongong, Wollongong, NSW 2522, Australia.
Background: Traditional methods for analysing surgical processes often fall short in capturing the intricate interconnectedness between clinical procedures, their execution sequences, and associated resources such as hospital infrastructure, staff, and protocols.
Aim: This study addresses this gap by developing an ontology for appendicectomy, a computational model that comprehensively represents appendicectomy processes and their resource dependencies to support informed decision making and optimise appendicectomy healthcare delivery.
Methods: The ontology was developed using the NeON methodology, drawing knowledge from existing ontologies, scholarly literature, and de-identified patient data from local hospitals.
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