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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 PDF"I'm not sad anymore, I'm proud to have such a child": The experiences of caregivers of dependents with cerebral palsy living in Greece.
J Pediatr Nurs
January 2025
Department of Nursing, School of Health Rehabilitation Sciences, University of Patras, Nikolaou Gizi 4, Patras, Greece.
Background: People with cerebral palsy are largely dependent on their caregivers, who are most often members of their family. Caring for people with disabilities can be challenging as both dependents and caregivers face problems of social isolation and stigmatization.
Aim: The aim of this study was to understand the experiences of caregivers of dependents with cerebral palsy in Greece.
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 PDFImmunotherapy-extended survival in patients with recurrent pulmonary pleomorphic carcinoma following surgery.
Eur J Surg Oncol
December 2024
Department of Surgery, Tokyo Medical University, Japan.
Objective: Pulmonary pleomorphic carcinoma is a relatively rare and aggressive subtype of non-small cell lung cancer (NSCLC), with a poor prognosis and early recurrence, and is resistant to conventional therapies. This study investigated the efficacy of immune checkpoint inhibitors (ICIs) in improving the survival outcomes of patients with pulmonary pleomorphic carcinoma with postoperative recurrence.
Methods: We conducted a retrospective analysis of 71 patients with pulmonary pleomorphic carcinoma who underwent pulmonary resection at Tokyo Medical University Hospital between 2008 and 2022.
Photothermal Desorption and Reagent-Assisted Low-Temperature Plasma Ionization Miniature IT-MS/MS for On-Site Analysis of Illicit Drugs in Saliva and Urine.
Anal Chem
January 2025
Environment Research Institute, Shandong University, Qingdao 266237, China.
Globally, drug-impaired driving fatalities now exceed those from drunk driving, urging the need for on-site and roadside detection methods. In this study, a photothermal desorption and reagent-assisted low-temperature plasma ionization miniature ion trap mass spectrometer (PDRA-LTP-ITMS) was developed for on-site detection of drug-impaired driving. The pseudomultiple reaction monitoring (MRM) in PDRA-LTP-ITMS enables continuous ion selection during ion introduction and improved sensitivity to nearly 3-fold compared with the conventional full scan mode.
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