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The Ataxia-telangiectasia mutated (ATM) is the most important gene for repairing the DNA in Myelodysplastic Neoplasm.
DNA Repair (Amst)
January 2025
Cancer Cytogenomic Laboratory, Center for Research and Drug Development (NPDM), Federal University of Ceara, Fortaleza, Ceara, Brazil; Post-Graduate Program in Medical Science, Federal University of Ceara, Fortaleza, Ceara, Brazil; Post-Graduate Program of Pathology, Federal University of Ceara, Fortaleza, Ceara, Fortaleza, Ceara, Brazil; Post-Graduate Program of Translational Medicine, Federal University of Ceara, Fortaleza, Ceara, Brazil.
Myelodysplastic Neoplasm (MDS) is a cancer associated with aging, often leading to acute myeloid leukemia (AML). One of its hallmarks is hypermethylation, particularly in genes responsible for DNA repair. This study aimed to evaluate the methylation and mutation status of DNA repair genes (single-strand - XPA, XPC, XPG, CSA, CSB and double-strand - ATM, BRCA1, BRCA2, LIG4, RAD51) in MDS across three patient cohorts (Cohort A-56, Cohort B-100, Cohort C-76), using methods like pyrosequencing, real-time PCR, immunohistochemistry, and mutation screening.
View Article and Find Full Text PDFImaging-based prediction of early recurrence and neoadjuvant therapy outcomes for resectable beyond Milan HCC.
Eur J Radiol
January 2025
Department of Radiology, West China Hospital Sichuan University Chengdu Sichuan China. Electronic address:
Purpose: To develop and validate an MRI-based model for predicting postoperative early (≤2 years) recurrence-free survival (RFS) in patients receiving upfront surgical resection (SR) for beyond Milan hepatocellular carcinoma (HCC) and to assess the model's performance in separate patients receiving neoadjuvant therapy for similar-stage tumors.
Method: This single-center retrospective study included consecutive patients with resectable BCLC A/B beyond Milan HCC undergoing upfront SR or neoadjuvant therapy. All images were independently evaluated by three blinded radiologists.
Application value of split-bolus contrast injection combined with dual-energy CT scanning technology in pediatric CTU imaging.
Eur J Radiol
January 2025
Department of Radiology Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, China. Electronic address:
Objective: To explore the clinical value of combining split-bolus contrast injection with dual-energy CT(DECT) scanning technology in pediatric computed tomography urography (CTU) imaging.
Methods: A total of 128 children aged 0-17 years were prospectively selected and randomly assigned to three groups: A, B, and C. For Group A, a high-pitch flash mode was employed, where a single bolus of contrast agent was followed by four-phase scanning (noncontrast, cortex, medulla, and excretory phases).
Background: Coronary heart disease (CHD) and depression frequently co-occur, significantly impacting patient outcomes. However, comprehensive health status assessment tools for this complex population are lacking. This study aimed to develop and validate an explainable machine learning model to evaluate overall health status in patients with comorbid CHD and depression.
View Article and Find Full Text PDFModels for pure tone audiometry enabling computational evaluation: Introduction to Japanese extensive experiences.
Auris Nasus Larynx
January 2025
Department of Otolaryngology, Faculty of Medicine, Teikyo University, Tokyo, Japan. Electronic address:
Pure tone audiometry including "masking" is the most basic test in audiological medicine. Masking is based on theoretical models of sound perception and propagation and has been widely discussed since the 1950s. In Japan, such discussion has been conducted extensively, starting from early periods up to recent times, with success to enable mathematical simulation, but the achievements have little been disclosed to the English-speaking world.
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