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Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Alzheimers Res Ther
January 2025
Department of Neuroscience "Rita Levi Montalcini", University of Turin, Via Cherasco 15, Turin, 10126, Italy.
Background: Alzheimer's disease (AD) is a progressive neurodegenerative disorder with both genetic and environmental factors contributing to its pathogenesis. While early-onset AD has well-established genetic determinants, the genetic basis for late-onset AD remains less clear. This study investigates a large Italian family with late-onset autosomal dominant AD, identifying a novel rare missense variant in GRIN2C gene associated with the disease, and evaluates the functional impact of this variant.
View Article and Find Full Text PDFHow Delphi studies in the health sciences find consensus: a scoping review.
Syst Rev
January 2025
Department of Research Methods in Health Promotion and Prevention, Institute for Health Sciences, University of Education Schwäbisch Gmünd, Oberbettringer Straße 200, Schwäbisch Gmünd, 73525, Germany.
Background: Delphi studies are primarily used in the health sciences to find consensus. They inform clinical practice and influence structures, processes, and framework conditions of healthcare. The practical research-how Delphi studies are conducted-has seldom been discussed methodologically or documented systematically.
View Article and Find Full Text PDFUse of virtual reality to remotely train healthcare professionals in paediatric emergency tracheostomy skills: protocol for a multi-centre, non-inferiority educational interventional study with historical controls.
BMC Surg
January 2025
Division of Immunology, Immunity to Infection, and Respiratory Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Oxford Road, Manchester, M13 9PL, UK.
Background: The insertion of a tracheostomy is an established technique used to wean patients off ventilatory support, manage secretions in complex conditions, and as a potentially life-saving procedure to bypass upper airway obstruction. Life-threatening complications during aftercare are not uncommon and may be influenced by a lack of education of carers or healthcare providers of children and young people living with a tracheostomy. Education programmes designed and supported by the National Tracheostomy Safety Project are effective, but resources are not available to educate the workforce at scale.
View Article and Find Full Text PDFMethodological challenges using routine clinical care data for real-world evidence: a rapid review utilizing a systematic literature search and focus group discussion.
BMC Med Res Methodol
January 2025
Freiburg Center for Data Analysis, Modeling and AI, University of Freiburg, Freiburg, Germany.
Background: The integration of real-world evidence (RWE) from real-world data (RWD) in clinical research is crucial for bridging the gap between clinical trial results and real-world outcomes. Analyzing routinely collected data to generate clinical evidence faces methodological concerns like confounding and bias, similar to prospectively documented observational studies. This study focuses on additional limitations frequently reported in the literature, providing an overview of the challenges and biases inherent to analyzing routine clinical care data, including health claims data (hereafter: routine data).
View Article and Find Full Text PDFThe association between neutrophil to high-density lipoprotein cholesterol ratio and gallstones: a cross-sectional study.
BMC Public Health
January 2025
Department of Hepatobiliary Surgery, Yixing People's Hospital Affiliated to Jiangsu University, Yixing, China.
Objective: Several studies have discussed the relationship between cholesterol and gallstones, and high-density lipoprotein cholesterol (HDL-C) as a representative of this has been addressed in various diseases. The metric neutrophil to high-density lipoprotein cholesterol ratio (NHR) derived from HDL-C has attracted much attention. The purpose of this article is to examine the relationship between NHR and gallstones in a population of American adults.
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