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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 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.
Near-Native Imaging of Metal Ion-Initiated Cell State Transition.
ACS Nano
January 2025
National Synchrotron Radiation Laboratory, University of Science and Technology of China, Hefei 230026, China.
Metal ions are indispensable to life, as they can serve as essential enzyme cofactors to drive fundamental biochemical reactions, yet paradoxically, excess is highly toxic. Higher-order cells have evolved functionally distinct organelles that separate and coordinate sophisticated biochemical processes to maintain cellular homeostasis upon metal ion stimuli. Here, we uncover the remodeling of subcellular architecture and organellar interactome in yeast initiated by several metal ion stimulations, relying on near-native three-dimensional imaging, cryo-soft X-ray tomography.
View Article and Find Full Text PDFThyroid Nodules with Indeterminate Cytology and Negative Molecular Profile: Prevalence of Malignancy and Practice Paradigms for Surveillance.
Thyroid
January 2025
Division of Endocrinology, Diabetes and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
In the era of molecular testing, thyroid nodules with indeterminate cytology are increasingly being managed nonoperatively. The false-negative rates of these molecular tests, and therefore missed malignancies, are not well defined in real-world clinical practice. This retrospective study of patients undergoing fine needle aspiration (FNA) biopsy at our health system between November 2017 and March 2022 included nodules with The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) III and IV cytology and negative, currently negative, or negative but limited ThyroSeq version 3 (TSv3) results.
View Article and Find Full Text PDFContaminant-Associated Disruption of the Skin Transcriptome in the Endangered St. Lawrence Estuary Beluga.
Environ Sci Technol
January 2025
Fisheries and Oceans Canada, Pacific Science Enterprise Center, 4160 Marine Drive, West Vancouver, British Columbia V7V 1N6, Canada.
The St. Lawrence Estuary (SLE) beluga () population in Canada is Endangered, and endocrine disrupting contaminants, such as polychlorinated biphenyls (PCBs), polybrominated diphenyl ethers (PBDEs), and other halogenated flame retardants, have been identified as a threat to the recovery of this population. Here, potential impacts of these contaminants on SLE beluga were evaluated by comparing skin transcriptome profiles and biological pathways between this population and a population less exposed to contaminants (Eastern Beaufort Sea) used as a reference.
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