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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 PDFTherapeutic effects of probiotics on symptoms of irritability/emotional lability associated with neurodevelopmental conditions: a systematic review and meta-analysis of placebo-controlled trials.
Complement Ther Med
January 2025
Department of Anesthesiology, Chi Mei Medical Center, Tainan City, Taiwan. Electronic address:
Objectives: The current study aimed at investigating the efficacies of probiotics in alleviating the symptoms of irritability/emotional lability in individuals with a neurodevelopmental condition.
Methods: Randomized placebo-controlled trials were identified through searching major electronic databases from inception to December, 2023. The outcome of interests included improvements in the symptoms of irritability/emotional lability.
Assessing the feasibility of a spiritual healing intervention for adults with moderate depression: A pilot randomized controlled trial.
Complement Ther Med
January 2025
National Research Center of Complementary and Alternative Medicine (NAFKAM), Faculty of Health Science, Institute of Community Medicine, UiT The Arctic University of Norway, Hansine Hansensveg 19, 9037 Tromsø, Norway.
Background: Many individuals with depression explore complementary and alternative medicine, including spiritual healing. This pilot randomized controlled trial (RCT) aimed to assess the feasibility of a study that integrated spiritual healing with standard care versus standard care alone for adults with moderate depression.
Method: In this pilot RCT with two parallel groups, 28 adult patients with depression were randomized to receive either spiritual healing alongside usual care (n=14) or usual care alone (n=14).
Human organotypic colon in vitro microtissue: unveiling a new window into colonic drug disposition.
Eur J Pharm Sci
January 2025
Preclinical Sciences & Translational Safety, Janssen R&D, Turnhoutseweg 30, 2340, Beerse, Belgium. Electronic address:
The purpose of this study was to evaluate EpiColon, a novel human organotypic 3D colon microtissue prototype, developed to assess colonic drug disposition, with a particular focus on permeability ranking, and compare its performance to Caco-2 monolayers. EpiColon was characterized for barrier function using transepithelial electrical resistance (TEER), morphology via histology and immunohistochemistry, and functionality through drug transport studies measuring apparent permeability (P). Cutoff thresholds for the permeability of FITC-dextran 4 kDa (FD4), FITC-dextran 10 kDa (FD10S), and [C]mannitol were established to monitor microtissue integrity.
View Article and Find Full Text PDFRelationship between heart rate variability traits and stroke: a Mendelian randomization study.
J Stroke Cerebrovasc Dis
January 2025
Shandong First Medical University, Jinan 250117, Shandong, China; Department of Neurosurgery, Liaocheng People's Hospital, Liaocheng 252000, Shangdong, China. Electronic address:
Background: Previous observational studies have suggested a potential association between heart rate variability (HRV) and cerebrovascular disease. However, a causal relationship between the two has not yet been established.
Aims: The objective of this study was to determine the causal relationship between heart rate variability (HRV) and stroke through a two-sample Mendelian randomization analysis.
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