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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.

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Characterization 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.

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The Disturbed Microbial Niches of Itchy Scalp.

J Cosmet Dermatol

January 2025

State Key Laboratory of Microbial Metabolism, Joint International Research Laboratory of Metabolic and Developmental Sciences, School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai, China.

Background: Scalp itch without evident cause is an uncomfortable symptom that annoys many people in life but lacks adequate attention in academic.

Aims: To investigate the relationship between scalp itching and microorganisms, and identify the key microbes and predicted functions associated with scalp itching, furtherly to provide useful targets for scalp itch solution.

Methods: We performed microbial comparison between 44 normal subjects and 89 subjects having scalp itching problem with un-identified origin based on 16S rRNA gene sequencing and ddPCR (digital droplet PCR), and identified itch relevant microbes and predicted functions.

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[Nephrology : what's new in 2024 (II)].

Rev Med Suisse

January 2025

Service de néphrologie, Département de médecine, Hôpitaux universitaires de Genève, Genève 14.

Certain molecules, such as GLP-1 agonists and endothelin antagonists, possess nephroprotective properties. When treating IgA nephropathy, endothelin antagonists and sibeprenlimab have shown effectiveness in slowing the progression of chronic kidney isease. Additionally, the infusion of amino acids can reduce the incidence of mild acute kidney injury following cardiac surgery.

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Atrial fibrillation (AF) is common and its treatment is complex. The new European guidelines emphasize a patient-centered approach, considering the risk factors that contribute to AF and their management in primary and secondary prevention. Recent advances in electrophysiology include the development of new ablation techniques and the implantation of a leadless bicameral pacemaker.

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