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| http://dx.doi.org/10.1136/ewjm.173.5.295 | DOI Listing |
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POLE mutations in endometrial carcinoma: Clinical and genomic landscape from a large prospective single-center cohort.
Cancer
February 2025
Departmental Unit of Molecular and Genomic Diagnostics, Genomics Core Facility, G-STeP, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Background: To date, 11 DNA polymerase epsilon (POLE) pathogenic variants have been declared "hotspot" mutations. Patients with endometrial cancer (EC) characterized by POLE hotspot mutations (POLEmut) have exceptional survival outcomes. Whereas international guidelines encourage deescalation of adjuvant treatment in early-stage POLEmut EC, data regarding safety in POLEmut patients with unfavorable characteristics are still under investigation.
View Article and Find Full Text PDFGene-Air Pollution Interaction and Diversity of Genetic Sampling: The Southern California Children's Health Study.
Genet Epidemiol
January 2025
Department of Population and Public Health Sciences, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.
Gene-environment interactions have been observed for childhood asthma, however few have been assessed in ethnically diverse populations. Thus, we examined how polygenic risk score (PRS) modifies the association between ambient air pollution exposure (nitrogen dioxide [NO], ozone, particulate matter < 2.5 and < 10 μm) and childhood asthma incidence in a diverse cohort.
View Article and Find Full Text PDFLongitudinal measures of peripheral optical quality in young children.
Ophthalmic Physiol Opt
January 2025
Northeastern University College of Science, Boston, Massachusetts, USA.
Purpose: To assess longitudinal changes in optical quality across the periphery (horizontal meridian, 60°) in young children who are at high (HR) or low risk (LR) of developing myopia, as well as a small subgroup of children who developed myopia over a 3-year time frame.
Methods: Aberrations were measured every 6 months in 92 children with functional emmetropia at baseline. Children were classified into HR or LR based on baseline refractive error and parental myopia.
Meta-analysis of the ability of mutational profiles on the cancer genome atlas to predict prognosis in endometrial carcinoma.
Int J Gynaecol Obstet
January 2025
Department of Gynecology and Obstetrics, West China Second Hospital, Sichuan University, Chengdu, People's Republic of China.
Background: In 2013, The Cancer Genome Atlas Research Network suggested that endometrial carcinoma patients may be reclassified into four molecular prognostic groups.
Objective: To compare survival of endometrial carcinoma patients with different mutational profiles.
Search Strategy: Studies reporting survival of endometrial carcinoma patients were identified through systematic searches of four databases.
Changes in the treatment and outcomes of different severities of neonatal hypoxic ischemic encephalopathy in California: a retrospective cohort study.
J Perinatol
January 2025
University of California, San Diego, Rady Children's Hospital of San Diego, La Jolla, CA, USA.
Objective: Evaluate the changes in management and outcomes of Californian infants with hypoxic ischemic encephalopathy (HIE).
Study Design: Infants with HIE were identified from a California administrative birth cohort using ICD codes and divided into two epochs, Epoch 1 (2010-2015) and Epoch 2 (2016-2019). Risk ratios (RR) for induced hypothermia (IH) in each epoch and their outcomes were calculated using log-linear regression.
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