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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 PDFThe Social Construction of Categorical Data: Mixed Methods Approach to Assessing Data Features in Publicly Available Datasets.
JMIR Med Inform
January 2025
Institute of History and Ethics in Medicine, School of Medicine and Health, Technical University of Munich, Munich, Germany.
Background: In data-sparse areas such as health care, computer scientists aim to leverage as much available information as possible to increase the accuracy of their machine learning models' outputs. As a standard, categorical data, such as patients' gender, socioeconomic status, or skin color, are used to train models in fusion with other data types, such as medical images and text-based medical information. However, the effects of including categorical data features for model training in such data-scarce areas are underexamined, particularly regarding models intended to serve individuals equitably in a diverse population.
View Article and Find Full Text PDFProbabilistic Approaches for Risk Assessment and Regulatory Criteria Development: Current Applications, Gaps, and Opportunities.
Integr Environ Assess Manag
January 2025
Institute of Environmental Toxicology, Western Washington University, Bellingham, Washington, USA.
Traditional ecological and human health risk assessment often relies on deterministic frameworks that preclude the presence of variability or uncertainty among input parameters characterizing exposure, effects, and risk. To promote increased realism and generate more robust risk management decisions, probabilistic risk assessment (PRA) has been introduced as a foundational grouping of techniques that seeks to broadly characterize variability among its components. While multiple methods exist (e.
View Article and Find Full Text PDFStrengthening Policy Relevance of Wastewater-Based Surveillance for Antimicrobial Resistance.
Environ Sci Technol
January 2025
University of Warmia and Mazury in Olsztyn, Department of Water Protection Engineering and Environmental Microbiology, Prawochenskiego 1, Olsztyn 10-790, Poland.
EULAR recommendations for the treatment of systemic sclerosis: 2023 update.
Ann Rheum Dis
January 2025
Department of Rheumatology, Université Paris Cité UFR de Médecine, Paris, France.
Objectives: To update the 2017 European Alliance of Associations for Rheumatology (EULAR) recommendations for treatment of systemic sclerosis (SSc), incorporating new evidence and therapies.
Methods: An international task force was convened in line with EULAR standard operating procedures. A nominal group technique exercise was performed in two rounds to define questions underpinning a subsequent systematic literature review.
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