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Advances in Prenatal Cell-Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation.
Prenat Diagn
January 2025
Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproductive Endocrinology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Prenatal cell-free DNA (cfDNA) screening has advanced significantly, extending beyond detecting aneuploidies to sub-chromosomal copy number variations. However, its application for screening dominant single-gene conditions, often caused by de novo variants, remains underutilized in the general obstetric population. This study reviews recent data and experience on prenatal cfDNA screening for dominant monogenic conditions using multiple-gene panels, highlighting its potential to enhance early detection and management of genetic disorders.
View Article and Find Full Text PDFCircadian aspects in nonpharmacologic and pharmacologic treatment of insomnia.
Handb Clin Neurol
January 2025
Department of Surgical Medical and Molecular Pathology and Critical Care Medicine, University of Pisa, Pisa, Italy; Department of Neuroscience, Psychology Unit, University of Pisa Azienda Ospedaliera Universitaria Pisana (AUOP), Pisa, Italy.
Insomnia disorder is a frequent sleep disorder leading to significant health and economic consequences. It has been proposed that individuals with insomnia may experience compromised deactivation systems of arousal, leading to a chronic state of hyperactivation of arousal known as hyperarousal, along with instability in the flip-flop system. Such disruptions may have a primarily impact on the sleep homeostatic drive process.
View Article and Find Full Text PDFThe lived experiences of nurse practitioners during a nursing strike.
Appl Nurs Res
February 2025
The University of Texas School of Nursing at Austin, United States of America. Electronic address:
Objective: This study aims to understand the lived experiences of nurse practitioners (NPs) providing patient care during a nursing strike in a hospital setting.
Background: The nursing shortage afflicts the provision of health care. A recurring loss of seasoned nurses represents a loss of expertise and organizational knowledge, leading to internal burnout, inadequate resources, and recently, nursing strikes.
Clinical Importance of Tissue Proximity Indication During Pulsed Field Ablation for Atrial Fibrillation: Insights from Initial Experience.
Heart Rhythm
January 2025
Division of Cardiology, Department of Medicine, Nihon University School of Medicine Tokyo Japan. Electronic address:
Background: Pulsed field ablation (PFA) for paroxysmal atrial fibrillation (AF) has been gaining worldwide acceptance due to its efficacy and safety. A variable loop circular catheter (VLCC, VARIPULSE, Biosense Webster, Inc.) for PFA, recently launched in Japan, includes a Tissue Proximity Indication (TPI) feature to monitor catheter-tissue contact via impedance.
View Article and Find Full Text PDFBody image and sexuality both pertain to the body. Positive experiences in one domain are generally associated with positive experiences in the other. Yet, less is known about body image among postpartum women specifically.
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