Increasing accessibility to genetic screening for cancer risk can lead to earlier surveillance and prevention, but with this comes the caveat of incidental identification of germline pathogenic gene variants. Here, we report a single institution case series of 6 otherwise healthy individuals with "incidental" Von Hippel Lindau (VHL) disease. These patients were found to have pathogenic germline variants in the VHL gene, after undergoing genetic testing for other purposes (5 for familial breast cancer risk and 1 to determine ancestry) but no VHL disease-associated tumors. The penetrance and expressivity of such incidental variants are not currently known, and therefore, no surveillance guidelines exist. Nevertheless, the association of these variants historically with high disease penetrance compels us to currently recommend active surveillance of their carriers with annual imaging of the brain, spine, and abdomen.
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http://dx.doi.org/10.1093/oncolo/oyaf015 | DOI Listing |
J Trauma Acute Care Surg
February 2025
From the Department of Surgery (J.J.C.), University of Louisville School of Medicine, Louisville, Kentucky; Department of Surgery (C.K.R., M.J.C.), University of Colorado School of Medicine, Aurora, Colorado; and Research with Impact (W.v.H.), Brisbane, Australia.
Background: In-house call (IHC) has previously been shown to result in increased burnout in acute care surgeons (ACSs). There is wide variation, however, in the implementation and culture of work surrounding IHC across trauma centers and within the demographics of practicing ACSs. We hypothesized that local work practices and culture surrounding IHC as well as sex of ACSs would impact burnout.
View Article and Find Full Text PDFNucleic Acids Res
January 2025
Center for Optical, Molecular and Quantum Science, University of Oregon, Eugene, OR 97403, USA.
Single-stranded-double-stranded DNA (ss-dsDNA) replication forks and primer-template junctions are important recognition sites for the assembly and function of proteins involved in DNA replication, recombination, and repair. DNA 'breathing' - i.e.
View Article and Find Full Text PDFScience
January 2025
Program on Science and Global Security, Princeton University, Princeton, NJ, USA.
Proc Natl Acad Sci U S A
February 2025
Meta-Research Innovation Center at Stanford, Stanford University, Stanford, CA 94305.
What is wrong with the peer review system? Is peer review sustainable? Useful? What other models exist? These are central yet contentious questions in today's academic discourse. This perspective critically discusses alternative models and revisions to the peer review system. The authors highlight possible changes to the peer review system, with the goal of fostering further dialog among the main stakeholders, including producers and consumers of scientific research.
View Article and Find Full Text PDFFront Public Health
January 2025
Department of Surgery, University of California, San Francisco, San Francisco, CA, United States.
Background: Shared micromobility programs (SMPs) are integral to urban transport in US cities, providing sustainable transit options. Increased use has raised safety concerns, notably about helmet usage among e-scooter and e-bicycle riders. Prior studies have shown that head and upper extremity injuries have risen with SMP adoption, yet data on helmet use remains sparse.
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