Publications by authors named "R W Moses"
We present one of the largest cohorts of TP53-pathogenic germline variants (PGVs) associated with patients with Li-Fraumeni syndrome (n = 82) with breast tumors (19 to 76 y; median age: 35). Most had missense variants (77%), followed by large gene rearrangements (LGRs; 12%), truncating (6%), and splice-site (5%) variants. Twenty-one unique germline missense variants were found, with hotspots at codons 175, 181, 245, 248, 273, 334, and 337.
View Article and Find Full Text PDFBackground: Bowel urgency, the sudden and immediate need to have a bowel movement, is common in patients with ulcerative colitis (UC) and Crohn's disease (CD). While its impact in UC is well established, less is known about its importance in CD. Further, what level of bowel urgency control patients with UC or CD would consider to be acceptable or in remission has not been established.
View Article and Find Full Text PDFArticle Synopsis
- The study aimed to clarify the role of X chromosome parent of origin (POX) in phenotypic variations associated with Klinefelter syndrome (XXY) by analyzing a larger cohort and more detailed assessments.
- Researchers sequenced genomes of 58 XXY individuals and their parents and evaluated 66 neurobehavioral traits and over 1000 anatomical features, discovering that maternal POX was present in 60.3% of cases but found no significant POX effects on cognitive or behavioral outcomes.
- However, neuroimaging revealed two brain regions with greater surface area associated with paternal POX, indicating some localized anatomical differences but no corresponding behavioral impacts, suggesting the need to explore other factors
Epoxytiglianes are a novel class of diterpene esters. The prototype epoxytigliane, EBC-46 (tigilanol tiglate), is a potent anti-cancer agent in clinical development for local treatment of a range of human and animal tumors. EBC-46 also consistently promotes wound re-epithelialization at the treatment sites, mediated via activation of classical protein kinase C (PKC) isoforms.
View Article and Find Full Text PDFIntroduction: The purpose of this study is to evaluate YouTube content about metoidioplasty on completeness of perioperative information, actionability, understandability, degree of misinformation, quality, and presence of commercial bias.
Methods: A YouTube search for "Metoidioplasty" was conducted and the first 100 video results were watched by five independent reviewers. Videos in English <30 minutes in length were included and videos primarily showing surgical footage were excluded.