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Loss of function in causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.
Genet Med Open
March 2024
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Purpose: Wolf-Hirschhorn syndrome (WHS), a contiguous gene syndrome caused by heterozygous deletions of the distal short arm of chromosome 4 that includes , reportedly causes specific DNA methylation signatures in peripheral blood cells. However, the genomic loci responsible for these signatures have not been elucidated. The present study aims to define the loci underlying WHS-related DNA methylation signatures and explore the role of in these signatures.
View Article and Find Full Text PDFComparing Large Language Model and Human Reader Accuracy with Image Challenge Case Image Inputs.
Radiology
December 2024
From the Department of Radiology, Research Institute of Radiological Science and Center for Clinical Imaging Data Science, Yonsei University College of Medicine, Seoul, Republic of Korea (P.S.S.); Department of Radiology and Research Institute of Radiology (W.H.S., C.H.S., K.J.P., P.H.K., S.J.C., Y.A., S.P., H.Y.P., N.E.O.), Department of Medical Science, Asan Medical Institute of Convergence Science and Technology (W.H.S., H.H.), and Department of Internal Medicine (C.Y.W.), Asan Medical Center, University of Ulsan College of Medicine, Olympic-ro 33, Songpa-gu, 05505 Seoul, Republic of Korea; University of Ulsan College of Medicine, Seoul, Republic of Korea (M.W.H.); Department of Orthopaedic Surgery, Seoul Seonam Hospital, Republic of Korea (S.T.C.); and Department of Pulmonary and Critical Care Medicine, Gumdan Top Hospital, Incheon, Republic of Korea (H.P.).
Background Application of multimodal large language models (LLMs) with both textual and visual capabilities has been steadily increasing, but their ability to interpret radiologic images is still doubted. Purpose To evaluate the accuracy of LLMs and compare it with that of human readers with varying levels of experience and to assess the factors affecting LLM accuracy in answering Image Challenge cases. Materials and Methods Radiologic images of cases from October 13, 2005, to April 18, 2024, were retrospectively reviewed.
View Article and Find Full Text PDFImpact of Smoking on Overall and Cancer-Specific Mortality in Prostate Cancer: Elevated Risks in Older and Early-Stage Patients-A Population-Based Study.
Life (Basel)
October 2024
Department of Medical Research, Chi Mei Medical Center, Tainan 710402, Taiwan.
Prostate cancer (PCa) ranks sixth in cancer mortality among Taiwanese men, with smoking rates remaining high despite the 2009 Tobacco Hazards Prevention Act. This study used the Taiwan Cancer Registry to evaluate smoking's impact on PCa mortality, providing important information for healthcare strategies and patient management. From 2011 to 2017, 23,107 PCa patients were analyzed, with 7164 smokers and 15,943 non-smokers.
View Article and Find Full Text PDFAssociations of Vitamin D-Related Biomarkers With Hypertension and the Renin-Angiotensin System in Men and Women.
Am J Hypertens
November 2024
Division of Preventive Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Background: Vitamin D may prevent the development of hypertension through down-regulation of renin-angiotensin system. However, epidemiologic studies assessing the interrelation of vitamin D-related biomarkers with hypertension are sparse.
Methods: We examined the prospective associations between vitamin D-related biomarkers and the risk of hypertension in a nested case-control study.
Comparing Diagnostic Accuracy of Radiologists versus GPT-4V and Gemini Pro Vision Using Image Inputs from Diagnosis Please Cases.
Radiology
July 2024
From the Department of Radiology and Research Institute of Radiology, University of Ulsan College of Medicine, Asan Medical Center, Olympic-ro 33, Seoul 05505, Republic of Korea (P.S.S., W.H.S., C.H.S., H.J.E., K.J.P., J.C., P.H.K., H.J.P., Y.A., H.Y.P.); Department of Radiology and Research Institute of Radiological Science and Center for Clinical Imaging Data Science, Yonsei University College of Medicine, Seoul, Republic of Korea (P.S.S.); Department of Medical Science, University of Ulsan College of Medicine, Asan Medical Institute of Convergence Science and Technology, Seoul, Republic of Korea (W.H.S., H.H., C.R.P.); Medical Research Institute, Ganneung Asan Hospital, University of Ulsan College of Medicine, Gangneung, Republic of Korea (Y.C.); Department of Internal Medicine, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Republic of Korea (C.Y.W.); and Department of Pulmonary and Critical Care Medicine, Gumdan Top Hospital, Incheon, Republic of Korea (H.P.).
Background The diagnostic abilities of multimodal large language models (LLMs) using direct image inputs and the impact of the temperature parameter of LLMs remain unexplored. Purpose To investigate the ability of GPT-4V and Gemini Pro Vision in generating differential diagnoses at different temperatures compared with radiologists using Diagnosis Please cases. Materials and Methods This retrospective study included Diagnosis Please cases published from January 2008 to October 2023.
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