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Genomic profiling at a single center cracks the code in inborn errors of immunity.
Intern Emerg Med
January 2025
Unit of Internal Medicine and Clinical Oncology "G. Baccelli", Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro Medical School, Bari, Italy.
Inborn errors of immunity (IEI) entail a diverse group of disorders resulting from hereditary or de novo mutations in single genes, leading to immune dysregulation. This study explores the clinical utility of next-generation sequencing (NGS) techniques in diagnosing monogenic immune defects. Eight patients attending the immunodeficiency clinic and with unclassified antibody deficiency were included in the analysis.
View Article and Find Full Text PDFExtended cognitive load induces fast neural responses leading to commission errors.
eNeuro
January 2025
The Biorobotics Institute, Scuola Superiore Sant'Anna, Pisa, Italy.
Extended performance of cognitively demanding tasks induces cognitive fatigue manifested with an overall deterioration of behavioral performance. In particular, long practice with tasks requiring impulse control is typically followed by a decrease in self-control efficiency, leading to performance instability. Here, we show that this is due to changes in activation modalities of key task-related areas occurring if these areas previously underwent intensive use.
View Article and Find Full Text PDFDiscourse on measurement.
Proc Natl Acad Sci U S A
February 2025
Department of Psychology, University of Potsdam, Potsdam 14476, Germany.
Measurement literacy is required for strong scientific reasoning, effective experimental design, conceptual and empirical validation of measurement quantities, and the intelligible interpretation of error in theory construction. This discourse examines how issues in measurement are posed and resolved and addresses potential misunderstandings. Examples drawn from across the sciences are used to show that measurement literacy promotes the goals of scientific discourse and provides the necessary foundation for carving out perspectives and carrying out interventions in science.
View Article and Find Full Text PDFFrom errors to excellence: the pre-analytical journey to improved quality in diagnostics. A scoping review.
Clin Chem Lab Med
January 2025
School of Dentistry and Medical Science, Faculty of Science and Health, 110481 Charles Sturt University, Wagga Wagga, NSW, Australia.
This scoping review focuses on the evolution of pre-analytical errors (PAEs) in medical laboratories, a critical area with significant implications for patient care, healthcare costs, hospital length of stay, and operational efficiency. The Covidence Review tool was used to formulate the keywords, and then a comprehensive literature search was performed using several databases, importing the search results directly into Covidence (n=379). Title, abstract screening, duplicate removal, and full-text screening were done.
View Article and Find Full Text PDFNurses' self-efficacy and outcome expectancy in evidence-based practice: Translation, construct validity and internal consistency of the Dutch scales.
Int J Nurs Stud Adv
June 2025
Radboud Institute for Health Sciences, Scientific Center for Quality of Healthcare (IQ Health), Radboud University Medical Center, Kapittelweg 54, 6525 EP Nijmegen, The Netherlands.
Background: Evidence-based practice (EBP) is crucial for appropriate, effective, and affordable care. Despite EBP education, barriers like low self-efficacy and outcome expectancy limit nurses' engagement in EBP. Reliable scales are essential to evaluate interventions aimed at improving self-efficacy and outcome expectancy in EBP.
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