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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
January 2025
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 PDFToward Product Safety and Circularity: Understanding the Information Structure of Global Databases on Chemicals in Products and Articles.
Environ Sci Technol
January 2025
RECETOX, Faculty of Science, Masaryk University, Kotlářská 2, 611 37 Brno, Czechia.
Access to information about chemicals in products and articles is critical for supporting enforcement of chemical regulations, assessing risks from chemicals, allowing informed consumer choices, and enabling product circularity. In this work, we identified and evaluated available databases (DBs) on chemicals in products and articles from the literature using a defined protocol and from European national market surveillance authorities, nongovernmental agencies, and industrial sector groups using questionnaires. This is the first comprehensive review of DBs that provide information about chemicals in products and articles.
View Article and Find Full Text PDFSpecialized pediatric palliative care in Italy: where are we going? The Palliped 2022-2023 study.
Ital J Pediatr
January 2025
Polistudium SRL, Milan, Italy.
Background: The PalliPed project is a nationwide, observational, cross-sectional study designed with the aim of providing a constantly updated national database for the census and monitoring of specialized pediatric palliative care (PPC) activities in Italy. This paper presents the results of the first monitoring phase of the PalliPed project, which was developed through the PalliPed 2022-2023 study, to update current knowledge on the provision of specialized PPC services in Italy.
Methods: Italian specialized PPC centers/facilities were invited to participate and asked to complete a self-reporting, ad-hoc, online survey regarding their clinical activity in 2022-2023, in the revision of the data initially collected in the first PalliPed study of 2021.
Semaglutide and laparoscopic sleeve gastrectomy in an adolescent with congenital adrenal hyperplasia due to 21-hydroxylase: a case report.
J Med Case Rep
January 2025
Department of Surgery, Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles and Keck School of Medicine of USC, Los Angeles, CA, USA.
Background: Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens. Lifelong glucocorticoid therapy is required, often necessitating supraphysiological doses in youth to manage androgen excess and growth acceleration. These patients experience higher obesity rates, hypertension, and glucose metabolism issues, complicating long-term health management.
View Article and Find Full Text PDFPrioritizing implementation solutions for the urban family physician policy in Iran: a multi-criteria decision-making study.
BMC Health Serv Res
January 2025
Department of Health Policy and Management, School of Public Health and Safety, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: Family physician program is one of the effective reforms of the health system in Iran, but despite the implementation of this program in rural areas and the passage of ten years since its implementation in two provinces of Fars and Mazandaran, its implementation has faced problems. The aim of this study is to identify and prioritize implementation solutions related to the challenges of the family physician program in Iran.
Methods: This is a qualitative study using semi-structured interviews with 22 snowball-sampled experts and managers of basic health insurers to extract problems and executive solutions through coding and data analysis using Atlas Ti software and content analysis in the first stage.
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