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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 PDFReducing postoperative morbidity by diminishing chest tube drainage utilizing tranexamic acid following vertebral body tethering for adolescent idiopathic scoliosis.
Spine Deform
January 2025
Department of Orthopedic Surgery, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Purpose: Vertebral body tethering (VBT) is a non-fusion surgical option for adolescent idiopathic scoliosis (AIS) that requires a postoperative (PO) chest tube. This study evaluates whether 48 h of PO TXA reduces chest tube (CT) drainage and retention compared to 24 h of TXA following VBT for AIS.
Methods: Consecutively treated patients with a diagnosis of AIS who underwent VBT were assessed.
Introduction: In natural disasters, children encounter serious health problems.
Method: This qualitative phenomenological study investigated the problems encountered by children with a diagnosis of celiac disease who lived in the earthquake region of Kahramahmaras in Turkey. Colaizzi method, a phenomenological research method, was used in the study.
Itching tends to worsen at night in patients with itchy skin diseases, such as atopic dermatitis. Unconscious scratching during sleep can exacerbate symptoms, cause sleep disturbances, or reduce quality of life. Therefore, evaluating nocturnal scratching behaviour is important for better patient care.
View Article and Find Full Text PDFCOVID-19 mortality among solid organ transplant recipients and candidates before specific vaccine availability in Colombia.
J Infect Dev Ctries
December 2024
Infectious Diseases Research Group, School of Medicine, Universidad Nacional de Colombia (National University of Colombia), Bogotá, Colombia.
Introduction: Coronavirus disease 2019 (COVID-19) is a life-threatening disease that was declared a pandemic in March 2020. Organ transplant recipients are vulnerable to infection and complications from COVID-19. The objective of this study was to investigate the rates of infection, mortality, and case-fatality ratios (CFR) in solid organ transplant recipients and patients on the waiting list for organ allocation in the period prior to the availability of specific vaccines.
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