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'Such a lot of bother': Qualitative results of a home trial of a wearable electronic vision enhancement system for people with age-related macular degeneration.
Ophthalmic Physiol Opt
January 2025
Vision and Hearing Sciences Research Centre, Anglia Ruskin University, Cambridge, UK.
Purpose: Wearable electronic low vision enhancement systems (wEVES) improve visual function but are not widely adopted by people with vision impairment. Here, qualitative research methods were used to investigate the usefulness of wEVES for people with age-related macular degeneration (AMD) after an extended home trial.
Methods: Following a 12-week non-masked randomised crossover trial, semi-structured interviews were completed with 34 participants with AMD, 64.
Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.
Am J Kidney Dis
January 2025
Hereditary Kidney Diseases Laboratory, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France. Electronic address:
Rationale & Objective: Molecular diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in the MUC1 gene has long been challenging since variants lie in a large Variable Number of Tandem Repeat (VNTR) region, making identification impossible using standard short read techniques. Previously, we addressed this diagnostic limitation by developing a computational pipeline, named VNtyper, for easier reliable detection of MUC1 VNTR pathogenic variants from short read sequences. This led to unexpected diagnoses of ADTKD-MUC1 among patients with kidney disease referred for genetic testing, which we report here.
View Article and Find Full Text PDFThe development of a discrete choice experiment: Investigating pharmacy selection in New Zealand.
Health Policy
January 2025
School of Pharmacy, University of Otago, Dunedin, New Zealand.
Introduction: Discrete choice experiments (DCEs) provide a method for understanding preferences for service provision and there have been limited applications to the selection of community pharmacies. The validity and accuracy of DCEs rely upon the attributes and levels used. This paper aims to describe the development of a DCE investigating New Zealanders preferences for community pharmacies.
View Article and Find Full Text PDFHuman Oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome.
J Clin Invest
January 2025
Laboratory of Genome Dynamics in the Immune, INSERM UMR 116, Équipe Labellisée LIGUE 2023, Paris, France.
Oncostatin M (OSM) is a cytokine with the unique ability to interact with both the OSM receptor (OSMR) and the leukemia inhibitory factor receptor (LIFR). On the other hand, OSMR interacts with IL31RA to form the interleukin-31 receptor. This intricate network of cytokines and receptors makes it difficult to understand the specific function of OSM.
View Article and Find Full Text PDFMemory consolidation from a reinforcement learning perspective.
Front Comput Neurosci
January 2025
Center for Synaptic Brain Dysfunctions, Institute for Basic Science, Daejeon, Republic of Korea.
Memory consolidation refers to the process of converting temporary memories into long-lasting ones. It is widely accepted that new experiences are initially stored in the hippocampus as rapid associative memories, which then undergo a consolidation process to establish more permanent traces in other regions of the brain. Over the past two decades, studies in humans and animals have demonstrated that the hippocampus is crucial not only for memory but also for imagination and future planning, with the CA3 region playing a pivotal role in generating novel activity patterns.
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