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Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and a review of the first 3 years.
Genet Med
January 2025
Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa. Electronic address:
Purpose: Universal newborn hearing screening (UNHS) programs using audiometric techniques alone are limited in ability to detect non-congenital childhood permanent hearing loss (PHL). In 2019, Ontario launched universal newborn screening (NBS) for PHL risk factors: congenital cytomegalovirus (cCMV) and 22 common variants in GJB2 and SLC26A4. Here we describe our experience with genetic risk factor screening.
View Article and Find Full Text PDFSynergistic Effects of Extra X Chromosome on Development of Systemic Lupus Erythematosus and Sjögren Disease in Klinefelter and Triple X Syndrome: A Retrospective Cohort Study.
ACR Open Rheumatol
January 2025
Sidney Kimmel Medical College at Thomas Jefferson University and Jefferson Einstein Hospital, Philadelphia, Pennsylvania.
Objective: Systemic lupus erythematosus (SLE) and Sjögren disease (SjD) are autoimmune diseases with significant female predominance. The prevalence of SLE is increased in Klinefelter syndrome (KS) compared with the general male population. Our study investigates the dose effects of extra X chromosomes on the development of SLE and SjD in KS and triple X syndrome compared with the general population.
View Article and Find Full Text PDFCharacterization and Detection Strategy Exploration in Cryptogenic Hepatocellular Carcinoma: Insights From a Super-Aged Region in Japan.
Cancer Med
January 2025
Division of Gastroenterology and Nephrology, Department of Multidisciplinary Internal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan.
Background And Aim: In recent years, there has been a rise in cryptogenic hepatocellular carcinoma (c-HCC) cases in Japan, posing a detection challenge due to an unknown etiology. This study aims to enhance diagnostic strategies for c-HCC by analyzing its characteristics and exploring current opportunities for detection.
Methods: A retrospective study was conducted from April 2012 to March 2022, enrolling 372 newly diagnosed hepatocellular carcinoma (HCC) patients.
Pelvic Radiotherapy in Rectal Cancer Patients With Synchronous Potentially Treatable Liver Metastases.
Cancer Rep (Hoboken)
January 2025
Department of Radiation Oncology, Zhongshan Hospital, Fudan University, Shanghai, China.
Background: The optimal management strategy for Stage IV rectal cancer with potentially treatable liver metastases remains controversial, particularly regarding the role of pelvic radiotherapy (RT).
Aims: We intend to investigate the impact of pelvic RT on oncological outcomes of rectal cancer with potentially treatable liver metastasis.
Methods And Results: This retrospective study included 83 patients diagnosed with rectal cancer and synchronous liver metastases from June 2012 to January 2022.
Recent advances in nanoultrasonography for the diagnosis and treatment of gastrointestinal diseases.
Nanomedicine (Lond)
January 2025
Department of Ultrasound, Yantaishan Hospital, Binzhou Medical University, Yantai, Shandong, China.
With the rapid development of nanotechnology, nanoultrasonography has emerged as a promising medical imaging technique that demonstrates significant potential in the diagnosis and treatment of gastrointestinal (GI) diseases. This review discusses the applications of nanoultrasonography in the gastrointestinal field, including improvements in imaging resolution, diagnostic accuracy, latest research findings, and prospects for clinical application. By analyzing existing literature, we explore the role of nanoultrasonography in enhancing imaging resolution, enabling targeted drug delivery, and improving therapeutic outcomes, thereby providing a reference for future research directions.
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