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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 PDFChanges in cerebrovascular reactivity as a marker of cognitive impairment risk: a transcranial Doppler study.
J Ultrasound
January 2025
Clinical Unit of Neurology, Department of Medicine, Surgery and Health Sciences, University Hospital and Health Services of Trieste, ASUGI, University of Trieste, Strada di Fiume, 447, 34149, Trieste, Italy.
Introduction: Post-stroke cognitive impairment (PSCI) and dementia affect short- and long-term outcome after stroke and can persist even after recover from a physical handicap. The process underlying PSCI is not yet fully understood. Transcranial Doppler ultrasound (TCD) is a feasible method to investigate cerebrovascular aging or dementia, through the pulsatility index (PI), the cerebrovascular reactivity (e.
View Article and Find Full Text PDFPros and cons of surgical versus conservative management for head and neck paraganglioma: a real-world data analysis.
Endocrine
January 2025
Centro di Ricerca e Innovazione sulle Patologie Surrenaliche, AOU Careggi, Florence, Italy.
Purpose: To compare functional deficits associated to surgery with those caused by the growth of the head and neck paragangliomas (HNPGLs).
Methods: 72 patients with HNPGLs were included. Patients were divided in group A (49 patients undergoing surgery) and group B (23 patients following a wait and see approach).
Cardiotoxicity Associated With a Low Doses of 5-FU Promotes Morphoquantitative Changes in the Intrinsic Cardiac Nervous System.
Cardiovasc Toxicol
January 2025
Department of Morphological Sciences, State University of Maringa, Maringa, Parana, Brazil.
5-Fluorouracil (5-FU) is a chemotherapeutic that is used to treat solid tumors. However, 5-FU is associated with several side effects, including cardiotoxicity. Considering the importance of the intrinsic cardiac nervous system (ICNS) for the heart and that little is known about effects of 5-FU on this nervous system plexus, the purpose of the present study was to evaluate effects 5-FU at a low dose on the ICNS and oxidative and inflammatory effects in the heart in Wistar rats.
View Article and Find Full Text PDFDihydromyricetin Protects Against Hypoxia/Reoxygenation Injury in Cardiomyocytes by Activating miR-34a-Mediated Notch1 Pathway.
Cardiovasc Toxicol
January 2025
The Second Department of Cardiovascular Medicine, Baoji People's Hospital, Baoji, China.
Dihydromyricetin (Dih), a naturally occurring flavonoid, has been identified to exert a protective effect against ischemia/reperfusion injury. However, the detailed mechanisms remain unclear. Here we investigated the biological role of Dih in preventing hypoxia/reoxygenation (H/R) injury in cardiomyocytes.
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