Advances in Prenatal Cell-Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation.

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.

Isovitexin targets SIRT3 to prevent steroid-induced osteonecrosis of the femoral head by modulating mitophagy-mediated ferroptosis.

The death of osteoblasts induced by glucocorticoid (GC)-mediated oxidative stress plays a crucial role in the development of steroid-induced osteonecrosis of the femoral head (SIONFH). Improving bone formation driven by osteoblasts has shown promising outcomes in the prognosis of SIONFH. Isovitexin has demonstrated antioxidant properties, but its therapeutic effects on GC-induced oxidative stress and SIONFH remain unexplored.

Chain-mediated effect of physical activity between Chinese language-based L2 motivational self-system and intended effort.

The L2 Motivational Self System (L2MSS) determines an individual's motivation in second language learning and influences the learning experience and intended effort. Although physical activity (PA) has been shown to enhance academic efficacy, the role of PA in whether it promotes second language learning efficacy has not been elucidated. Therefore, the present study examined PA as a mediator and explored its ameliorative effects in L2MSS.

Amelioration of premature aging in Werner syndrome stem cells by targeting SHIP/AKT pathway.

Background: Pathogenic or null mutations in WRN helicase is a cause of premature aging disease Werner syndrome (WS). WRN is known to protect somatic cells including adult stem cells from premature senescence. Loss of WRN in mesenchymal stem cells (MSCs) not only drives the cells to premature senescence but also significantly impairs the function of the stem cells in tissue repair or regeneration.

Solvent-dripping modulated 3D/2D heterostructures for high-performance perovskite solar cells.

The controlled growth of two-dimensional (2D) perovskite atop three-dimensional (3D) perovskite films reduces interfacial recombination and impedes ion migration, thus improving the performance and stability of perovskite solar cells (PSCs). Unfortunately, the random orientation of the spontaneously formed 2D phase atop the pre-deposited 3D perovskite film can deteriorate charge extraction owing to energetic disorder, limiting the maximum attainable efficiency and long-term stability of the PSCs. Here, we introduce a meta-amidinopyridine ligand and the solvent post-dripping step to generate a highly ordered 2D perovskite phase on the surface of a 3D perovskite film.

SAA3 deficiency exacerbates intestinal fibrosis in DSS-induced IBD mouse model.

Intestinal fibrosis, as a late-stage complication of inflammatory bowel disease (IBD), leads to bowel obstruction and requires surgical intervention, significantly lowering the quality of life of affected patients. SAA3, a highly conserved member of the serum amyloid A (SAA) apolipoprotein family in mice, is synthesized primarily as an acute phase reactant in response to infection, inflammation and trauma. An increasing number of evidence suggests that SAA3 exerts a vital role in the fibrotic process, even though the underlying mechanisms are not yet fully comprehended.

Prognostic performance of the two-step clinical care pathway in metabolic dysfunction-associated steatotic liver disease.

Background & Aims: Current guidelines recommend a 2-step approach for risk stratification in patients with metabolic dysfunction-associated steatotic liver disease (MASLD) with Fibrosis-4 index (FIB-4) followed by liver stiffness measurement (LSM) by vibration-controlled transient elastography (VCTE) or similar second-line tests. This study aimed to examine to prognostic performance of this approach.

Methods: The VCTE-Prognosis Study was a longitudinal study of patients with MASLD who had undergone VCTE examinations at 16 centres from the US, Europe and Asia with subsequent follow-up for clinical events.

Dual targeting PPARα and NPC1L1 metabolic vulnerabilities blocks tumorigenesis.

Dysregulated lipid metabolism is linked to tumor progression. In this study, we identified Niemann-Pick C1-like 1 (NPC1L1) as a downstream effector of PKM2. In breast cancer cells, PKM2 knockout (KO) enhanced NPC1L1 expression while downregulating peroxisome proliferator-activated receptor α (PPARα) signaling pathway.

Dietary patterns modify the association between body mass index and mortality in older adults.

Background: The potential modifying roles of dietary patterns in the association between body mass index (BMI) and mortality in older adults remain unclear. This study aimed to examine the stratified and combined associations of dietary patterns and BMI with all-cause, cancer and cardiovascular disease (CVD) mortality.

Methods: This prospective cohort study included 3982 Chinese community-dwelling older adults between 2001 and 2003.

Lipopolysaccharide (LPS) induces sclerostin secretion by extracellular vesicle via TLR4/miR-92a-3p/PTEN/NF-κB signalling pathway in murine macrophage.

Background: Sclerostin (SOST) is traditionally regarded as an osteocyte-derived secreted glycoprotein that regulates bone mineralization. Recent studies reported that SOST is also released from non-skeletal sources, especially during inflammation. However, the cellular source and regulatory mechanisms governing SOST generation in inflammation remain unclear.

Ultralow Coordination Copper Sites Compartmentalized within Ordered Pores for Highly Efficient Electrosynthesis of -Propanol from CO.

Coordinatively unsaturated copper (Cu) has been demonstrated to be effective for electrifying CO reduction into C products by adjusting the coupling of C-C intermediates. Nevertheless, the intuitive impacts of ultralow coordination Cu sites on C products are scarcely elucidated due to the lack of synthetic recipes for Cu with low coordination numbers and its vulnerability to aggregation under reductive potentials. Herein, computational predictions revealed that Cu sites with higher levels of coordinative unsaturation favored the adsorption of C and C intermediates.

The Effects of Exergaming on the Depressive Symptoms of People With Dementia: A Systematic Review and Meta-Analysis.

Background: Depressive symptoms are common among people with dementia (PWD). Exergaming consisting of combined cognitive and physical training in gaming is increasingly used to alleviate their depressive symptoms in research. With its potential synergistic neurobiological and psychosocial effects on reducing depressive symptoms among PWD, this review aimed to understand its effectiveness and contents.

Patterns of Treatment and Real-World Outcomes of Patients With Non-small Cell Lung Cancer With EGFR Exon 20 Insertion Mutations Receiving Mobocertinib: The EXTRACT Study.

Background: Real-world data regarding patients with non-small cell lung cancer (NSCLC) with EGFR exon 20 insertion (ex20ins) mutations receiving mobocertinib are limited. This study describes these patients' characteristics and outcomes.

Methods: A chart review was conducted across three countries (Canada, France, and Hong Kong), abstracting data from eligible patients (NCT05207423).

Peptide Aptamer-Paclitaxel Conjugates for Tumor Targeted Therapy.

: Traditional paclitaxel therapy often results in significant side effects due to its non-specific targeting of cancer cells. Peptide aptamer-paclitaxel conjugates present a promising alternative by covalently attaching paclitaxel to a versatile peptide aptamer via a linker. Compared to antibody-paclitaxel conjugates, peptide aptamer-paclitaxel conjugates offer several advantages, including a smaller size, lower immunogenicity, improved tissue penetration, and easier engineering.

Asthma Risk Prevalence and Associated Factors in Stunted Children: A Study Using Asthma Predictive Index.

: The prevalence of stunted children under 5 years in Indonesia is relatively high. Stunting is a significant risk factor for wheezing disorders. The asthma predictive index (API) identifies children with a recurrent wheezing disorder at risk of developing asthma during the first 3 years.

Genetic Etiology in Pelvic Organ Prolapse: Role of Connective Tissue Homeostasis, Hormone Metabolism, and Oxidative Stress.

: Pelvic organ prolapse (POP) has become a common health problem among the aging population and affects an increasing number of elderly women worldwide. Studies within family and twin pairs provided strong evidence for the contribution of genetic factors to POP. Given the incomplete penetrance, polygenic traits, and small effect sizes of each variant in complex diseases, it is not always easy to evaluate the genetic susceptibility and molecular mechanisms involved in POP.

Beclin 1-Mediated Autophagy Is Potentiated by an Interaction with the Neuronal Adaptor FE65.

Autophagy is a vital cellular pathway in eukaryotic cells, including neurons, where it plays significant roles in neurodevelopment and maintenance. A crucial step in autophagy is the formation of the class III phosphatidylinositol 3-kinase complex 1 (PI3KC3-C1), which is essential for initiating autophagosome biogenesis. Beclin 1 is the key component of PI3KC3-C1, and its interactors have been reported to affect autophagy.

Development and Validation of Child Observation Checklist for Early Screening of Young Children with Special Needs.

Families with young children with developmental disabilities often express concerns about delays in the identification of these and extended waiting times for obtaining assessments, learning support, and rehabilitation services. The identification process must and can be enhanced if preschool teachers have instrumental measures to detect early-stage developmental disabilities and adjustment difficulties in preschool children and, if necessary, to provide these children with prompt and effective support services. The aim with this study was to develop and validate a screening checklist for teachers to detect developmental delays and adjustment difficulties in Chinese preschool children in Hong Kong.

Current Updates on Molecular Diagnostic Assays Used for Detection of : A Systematic Review.

: is an emerging multidrug-resistant pathogen with the potential to cause invasive fungal infections and healthcare-associated outbreaks. Currently, there is no systematic review explicitly focusing on the up-to-date molecular diagnostics of this pathogen to cover the entire process, including sample pre-extraction procedures, nucleic acid extraction, and DNA-based detection. Sample pre-treatment and extraction are the prerequisites before molecular testing and have implications on the downstream detection but have not been reviewed elsewhere.

An Overview of the Current Scientific Evidence on the Biological Properties of (L.) Moench (Okra).

(L.) Moench, commonly known as okra or lady's finger, is an annual flowering plant belonging to the family. Okra is a native plant in Africa as well as a traditional medicine in Africa and India for treating different diseases and conditions.