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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Nat Med
January 2025
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.
View Article and Find Full Text PDFThe impact of relative word-length on effects of non-adjacent word transpositions.
Psychon Bull Rev
January 2025
Centre de Recherche en Psychologie et Neuroscience, CNRS & Aix-Marseille University, Marseille, France.
A recent study (Wen et al., Journal of Experimental Psychology: Human Perception and Performance, 50: 934-941, 2024) found no influence of relative word-length on transposed-word effects. However, following the tradition of prior research on effects of transposed words during sentence reading, the transposed words in that study were adjacent words (words at positions 2 and 3 or 3 and 4 in five-word sequences).
View Article and Find Full Text PDFIdentification of subsurface cavities in urban environment.
Sci Rep
January 2025
Center of Astronomy, Astrophysics and Geophysics Research, Route de l'Observatoire, Bouzaréah, Alger, 16340, Algeria.
Gravimetry is the most suitable geophysical method for identifying subsurface cavities in urban or industrial environments, as it is unaffected by nearby electromagnetic disturbances. In this study, we used gravimetric geophysical method to understand the land subsidence, collapses, and fissures observed around the sealed Albian drilling site located in the M'Rara region of Northeast of Algeria. Particularly, we would like study the geological observed phenomena and its potential association with the presence of a cavity within the salt layer.
View Article and Find Full Text PDFHealthcare staff perceptions of an electronic hand hygiene monitoring system within a large university system.
Antimicrob Steward Healthc Epidemiol
July 2024
Department of Public Health and Preventive Medicine, State University of New York Upstate Medical University, Syracuse, NY, USA.
Objective: The acceptability of an electronic HH monitoring system (EHHMS) was evaluated among hospital staff members.
Design: An electronic HH monitoring system was implemented in June 2020 at a large, academic medical center. An interdisciplinary team developed a cross-sectional survey to gather staff perceptions of the EHHMS.
A proteomic atlas of glypican-3 interacting partners: Identification of alpha-fetoprotein and other extracellular proteins as potential immunotherapy targets in liver cancer.
Proteoglycan Res
October 2024
Laboratory of Molecular Biology, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA.
Antibody and cell-based therapeutics targeting cell surface receptors have emerged as a major class of immune therapeutics for treating cancer. However, the number of cell surface targets for cancer immunotherapy remains limited. Glypican-3 (GPC3) is a cell surface proteoglycan and an oncofetal antigen.
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