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A case of Li-Fraumeni syndrome caused by a 3.6 kb deletion in the TP53 gene suggested by additional data from the NCC Oncopanel.
Jpn J Clin Oncol
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Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, 47-1 Nodayama, Medeshima-Shiode, Natori, Miyagi 981-1293, Japan.
A Japanese woman with Li-Fraumeni syndrome in her 40s underwent comprehensive genetic profiling accompanied by germline data using the Oncoguide NCC Oncopanel, but no germline pathogenic variants in the tumor suppressor gene TP53 were detected. However, careful examination of additional data in the report suggested the presence of a large TP53 deletion. Custom targeting next-generation sequencing and nanopore sequencing revealed a 3.
View Article and Find Full Text PDF18F-Sodium Fluoride PET/CT as a Tool to Assess Enthesopathies in X-Linked Hypophosphatemia.
Calcif Tissue Int
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Endocrinology Department, School of Medicine, Pontificia Universidad Católica de Chile, Av. Diagonal Paraguay 262, Cuarto Piso, Santiago, Chile.
X-linked hypophosphatemia (XLH) is a rare metabolic disorder characterized by elevated FGF23 and chronic hypophosphatemia, leading to impaired skeletal mineralization and enthesopathies that are associated with pain, stiffness, and diminished quality of life. The natural history of enthesopathies in XLH remains poorly defined, partly due to absence of a sensitive quantitative tool for assessment and monitoring. This study investigates the utility of 18F-NaF PET/CT scans in characterizing enthesopathies in XLH subjects.
View Article and Find Full Text PDFAssessment of geochemistry and irrigation suitability of the River Ganga, Varanasi, India: PCA reduction for water quality index and health risk evaluation.
Environ Sci Pollut Res Int
January 2025
Institute of Environment and Sustainable Development, Banaras Hindu University, Varanasi, 221005, India.
Surface water chemistry of the River Ganga at Varanasi was analyzed at 10 locations over 3 years (2019-2021) across pre-monsoon, monsoon, and post-monsoon seasons. The study aimed to assess water parameters using principal component analysis (PCA), calculate the water quality index (WQI), determine processes governing water chemistry, evaluate irrigation suitability, and estimate non-carcinogenic health risks. The physical parameters measured included pH (8.
View Article and Find Full Text PDFBeyond hearing: the impact of Cochlear implantation on the quality of life of users and their communication partners after 1 year.
Int J Audiol
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Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.
Objective: To assess the impact of cochlear implantation (CI) and speech perception outcomes on the quality of life (QoL) of adult CI users and their communication partners (CP) one-year post-implantation.
Design: This research is part of a prospective multicenter study in The Netherlands, called SMILE (Societal Merit of Intervention for hearing Loss Evaluation).
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