Comparative study of third-generation sequencing-based CASMA-trio and STR linkage analysis for identifying SMN1 2 + 0 carriers.

Spinal Muscular Atrophy (SMA, MIM#253300) is an autosomal recessive neuromuscular disorder caused by defects in the Survival Motor Neuron (SMN) gene. The SMN1 gene, recognized as the primary pathogenic gene for SMA, exhibits a high degree of sequence homology with SMN2 gene. Individuals with the SMN1 2 + 0 genotype represent a unique type of SMA carrier, characterized by two SMN1 copies on one chromosome and zero copies on the other.

Detecting the physiological and molecular mechanisms by which abscisic acid (ABA) regulates the consistency of sweet cherry fruit maturity.

In the cultivation and production of sweet cherry, the cost of picking fruit is high due to inconsistency in the maturation period, which has affected the development of the cherry industry. In this study, the effects of exogenous abscisic acid (ABA) on the sweet cherry variety 'Luying 3' fruit quality and maturation stage were observed and recorded, and the physiological and molecular mechanisms were explored to systematically analyze the effects of ABA on sweet cherry fruit ripening to promote the development of the cherry industry. Exogenous ABA (400 mg L) enhanced the color of 'Luying 3' fruit in the developing stage but had no significant effect on the fruit weight, soluble solid content, titratable acid content, and sugar-acid ratio in the mature stage.

Association of genetic risk of Alzheimer's disease and cognitive function in two European populations.

Although there is some evidence of an association between Alzheimer's disease polygenic risk score (AD PRS) and cognitive function, limited validations have been performed in large populations. We investigated the relationship between AD PRS and cognitive function in the UK Biobank in over 276,000 participants and further validated the association in the Alzheimer's Disease Neuroimaging Initiative (ADNI) sample. We developed the AD PRS (excluded the APOE variants) in the middle age UK Biobank participants (age ranged 39-72, mean age 57 years) of European ancestries by LDpred2.

Polymorphic relaxor phase and defect dipole polarization co-reinforced capacitor energy storage in temperature-monitorable high-entropy ferroelectrics.

Energy storage high-entropy ceramics are famous for their ultrahigh power density and ultrafast discharge rate. However, achieving a synchronous combination of high energy density and efficiency along with intelligent temperature-monitorable function remains a significant challenge. Here, based on high-entropy strategy and phase field simulation, the polarization response of domains in BiNaTiO-based ceramics is optimized by constructing a concomitant nanostructure of defect dipole polarization and a polymorphic relaxor phase.

Independent and joint effects of genomic and exposomic loads for schizophrenia on psychotic experiences in adolescents of European ancestry.

This study aimed to assess the independent and joint associations of genomic and exposomic liabilities for schizophrenia with distressing psychotic experiences (PEs) and their persistence in early adolescence. The Adolescent Brain and Cognitive Development Study data from children with European ancestry were used (N = 5122). The primary outcome was past-month distressing PEs at the 3-year follow-up.

Phosphorylation of FOXN3 by NEK6 promotes pulmonary fibrosis through Smad signaling.

The transcriptional repressor FOXN3 plays a key role in regulating pulmonary inflammatory responses, which are crucial in the development of pulmonary fibrosis. However, its specific regulatory function in lung fibrosis remains unclear. Here, we show that FOXN3 suppresses pulmonary fibrosis by inhibiting Smad transcriptional activity.

Ab initio quantum many-body description of superconducting trends in the cuprates.

Using a systematic ab initio quantum many-body approach that goes beyond low-energy models, we directly compute the superconducting pairing order and estimate the pairing gap of several doped cuprate materials and structures within a purely electronic picture. We find that we can correctly capture two well-known trends: the pressure effect, where the pairing order and gap increase with intra-layer pressure, and the layer effect, where the pairing order and gap vary with the number of copper-oxygen layers. From these calculations, we observe that the strength of superexchange and the covalency at optimal doping are the best descriptors for these trends.

Comparative studies of 2168 plasma proteins measured by two affinity-based platforms in 4000 Chinese adults.

Proteomics offers unique insights into human biology and drug development, but few studies have directly compared the utility of different proteomics platforms. We measured plasma levels of 2168 proteins in 3976 Chinese adults using both Olink Explore and SomaScan platforms. The correlation of protein levels between platforms was modest (median rho = 0.

Comparison of Perioperative Outcomes for Transfusion of Hemoconcentrated Bypass Versus Cell Saver Blood in Cardiac Surgical Patients.

Objective: Hemoconcentration and cell saver use are blood conservation techniques that are often used in cardiac surgery to salvage the patient's own blood to reduce autologous transfusion. The purpose of this study was to examine the perioperative outcomes including transfusion rates in cardiac surgical patients receiving hemoconcentrated blood versus cell saver blood via retrospective chart review. We hypothesized that hemoconcentration would have better patient outcomes, including reduced transfusion rates, compared to only cell salvage technique.

Photolithography-Induced Doping and Interface Modulation for High-Performance Monolayer WSe P-Type Transistors.

To mitigate Fermi-level pinning (FLP) at the contact of two-dimensional (2D) transition metal dichalcogenides and enhance their hole carrier concentration, a 1.8 nm-thick p-doping layer is formed via photolithography. This surface treatment significantly reduces the contact resistance () to ∼4.

Post-Traumatic Stress Disorder (PTSD) Among Algerian Cancer Patients: Validity of the Arabic DSM-5 PTSD Checklist (PCL-5) and Associated Factors.

Background: Cancer patients are at risk of post-traumatic stress disorder (PTSD) throughout their treatment journey due to serious challenges (e.g., complex surgical interventions, severe pain, and side effects from chemotherapy or radiation therapy).

Fluorescent biosensor for lead ion detection based on GR-5 DNAzyme and self-hybridization chain reaction.

Background: Lead ion (Pb) is a typical heavy metal pollutant, and the water and food contaminated by lead may pose a potential threat to the environment and human health. In the natural environment, it can accumulate in soil and water, affecting the entire food chain. For human health, even if the Pb content is very low, it can cause a series of adverse health effects.

Clinical Utility of Liquid-based Comprehensive Genomic Profiling (CGP) in Gastrointestinal Stromal Tumors (GIST).

Treatment for GIST focuses on tyrosine kinase inhibitors (TKI), whose selection depends on specific mutations. We sought to determine the clinical utility of liquid biopsy in advanced GIST. Liquid (n=181) (FoundationOne®Liquid CDx) and tissue (n=2,198) (FoundationOne® and FoundationOne®CDx) CGP of GIST were evaluated.

Recent advances in cellulose-based separators for zinc ion batteries: A review.

Aqueous zinc ion batteries (AZIBs) have attracted increasing attention because of their high energy density, excellent safety features, and environmentally friendly properties. The separator plays a crucial role in the battery, greatly influencing its performance and stability. Therefore, the separator for AZIBs has attracted increasing interest in recent years.

Polylactic acid amine-sensitive colorimetric indicator film loaded with eugenol/coumarin derivatives: Towards freshness indication and shelf-life extension of chilled pork.

The action of microorganisms can lead to a decrease in food freshness and cause food safety issues. Traditional packaging can only provide a certain antimicrobial effect and cannot indicate the freshness of food, which can no longer meet the needs of consumers. The preparation of intelligent packaging films with antimicrobial effects and freshness indication is an effective solution.

Gemini surfactant stabilized zein nanoparticles: Preparation, characterization, interaction mechanism, and antibacterial activity.

To enhance the physicochemical properties of zein nanoparticles, zein complexes with two Gemini surfactants (12-3-12 and 12-4-12) were prepared using the anti-solvent method and investigated the physicochemical properties, formation mechanism and antibacterial activity. Results indicated that the optimal mass ratio between zein and Gemini surfactants was at 1:1, and the incorporation of Gemini surfactants significantly improved the surface properties of zein, reducing its surface hydrophobicity and surface tension, thereby enhancing its dispersion in aqueous media. Fluorescence spectroscopy and molecular docking experiments further elucidated the interaction mechanisms between zein and Gemini surfactant, revealing a spontaneous binding process, mainly driven by hydrophobic and hydrogen interaction, and a strong binding affinity of 12-4-12 with zein.

Collagen remodeling-mediated signaling pathways and their impact on tumor therapy.

In addition to their traditional roles in maintaining tissue morphology and organ development, emerging evidence suggests that collagen (COL) remodeling-referring to dynamic changes in the quantity, stiffness, arrangements, cleavage states, and homo-/hetero-trimerization of COLs-serves as a key signaling mechanism that governs tumor growth and metastasis. COL receptors act as switches, linking various forms of COL remodeling to different cell types during cancer progression, including cancer cells, immune cells, and cancer-associated fibroblasts (CAFs). In this review, we summarize recent findings on the signaling pathways mediated by COL arrangement, cleavage, and trimerization states (both homo- and hetero-), as well as the roles of the primary COL receptors-integrin, DDR1/2, LAIR-1/2, MRC2, and GPVI-in cancer progression.

Novel progressive rod-cone degeneration mutation causes retinitis pigmentosa.

Retinitis pigmentosa (RP) is a genetic disorder often caused by single or multiple mutations. The progressive rod-cone degeneration (PRCD) gene is linked to retinal degeneration. This study identified a family affected by RP carrying a frameshift mutation (c.

Simultaneous removal of heavy metals and antibiotics from anaerobically digested swine wastewater via functionalized covalent organic frameworks.

The removal of heavy metal ions and antibiotics from livestock and poultry wastewater has gained significant attention. Developing dual-functional materials capable of simultaneously removing heavy metal ions and antibiotics from wastewater is a promising strategy. In this study, a functionalization approach was proposed to enhance active sites in covalent organic frameworks (COFs), thereby improving their adsorption performance and maintaining photocatalytic activity.

Exposure to toxic metals might accelerate aging.

Background: Biological aging (BA) trajectory can capture the characteristics of the dynamic process of aging. Although toxic metals were associated with various health effects, there was limited study of their single and joint effects on BA trajectory.

Methods: A total of 2688 community-based older adults (≥65 years) were enrolled in this study, and we measured a composite BA indicator based on 9 clinical and anthropometric measures using Klemera and Doubal methods at four time points from baseline to the last follow-up.

Incorporating polygenic liability and family history for predicting psychiatric diseases in the Taiwan biobank.

Background: This study investigated the interplay between molecular measures of polygenic risk score (PRS) and conventional measures of family history (FH) on the risk of four psychiatric disorders: schizophrenia (SCZ), bipolar disorder (BPD), major depressive disorder (MDD), and obsessive-compulsive disorder (OCD) in community samples of East Asian populations. We examined the individual and joint associations and relative contributions of PRS and FH and evaluated the potential of combining transdiagnostic PRSs and FHs to improve risk prediction.

Methods: The genotyping of 106,581 unrelated participants from the Taiwan Biobank was linked to the National Health Insurance Research Database to retrieve information on ICD-defined diseases and FH.

Nanoparticles encapsulating antigenic peptides induce tolerogenic dendritic cells in situ for treating systemic lupus erythematosus.

Using Tetrahedral framework nucleic acids, we combined antigenic peptides to create the "DART" vaccine: DNA framework-Antigenic peptide-RNA modification-Targeting aptamer coupling. Generating antigen-specific tolerogenic dendritic cells (tolDCs), for systemic lupus erythematosus (SLE) is a potential therapeutic strategy for addressing compromised autoimmune tolerance. However, simple antigenic peptides degrade easily, lack specificity for delivery to dendritic cells (DCs), and cannot transform DCs to tolDCs.

Reduction in presynaptic glutamate release and the prevention of glutamate excitotoxicity by lupeol in rats.

This study aimed to investigate whether lupeol, a pentacyclic triterpenoid, affects glutamate release in isolated nerve terminals (synaptosomes) from the rat cerebral cortex and whether lupeol affects the excitotoxicity induced by kainic acid (KA) in rats. In rat cerebrocortical synaptosomes, lupeol reduced glutamate release in a manner that could be blocked by extracellular Ca-free medium or P/Q-type Ca channel antagonism. The synaptosomal membrane potential was not affected by lupeol treatment.