Objective: This study developed and validated a hybrid prediction model (HyPred) for prenatal Down's syndrome (DS) screening using ensemble learning(EL)-driven, including extreme gradient boosting, balanced random forest, and gradient boosting machine. Its performance was compared with laboratory-based median equations.
Methods: A retrospective analysis was conducted using 8,363 first-trimester samples (Nov 2019-Aug 2022) for training and 1,943 samples (Sep 2022-Jul 2023) for validation.
Increased expression of a set of homeodomain transcription factors, including HoxA10, characterizes an adverse prognosis subtype of acute myeloid leukemia (AML). Examples of this subtype include AML with KMT2A or MYST3/CREBBP gene rearrangements, and an AML subset with normal cytogenetics. Previously, we identified ARIH2, the gene encoding Triad1, as a HoxA10 target gene.
View Article and Find Full Text PDFBackground: Ovarian cancer (OC) remains a highly lethal gynecological malignancy, often diagnosed at advanced stages with a poor prognosis. Lymph node involvement is a critical prognostic factor and significantly influences treatment planning. However, accurately predicting lymph node positivity remains challenging due to the disease's heterogeneity and the limitations of traditional models in handling high-dimensional and imbalanced data.
View Article and Find Full Text PDFBMC Psychiatry
July 2025
Background: Schizophrenia (SCZ) is one of the most serious mental disorders, and dysfunction of the dopamine system is a key pathological hypothesis for SCZ. The DRD2 gene is a risk gene for SCZ, and its methylation is also considered an important marker of SCZ. Among methylation sites of A total of 21 CpG sites were detected2, the CpG island upstream of exon 1 has been the most commonly studied.
View Article and Find Full Text PDFPlants (Basel)
June 2025
The root system is vital for water/nutrient uptake and anchorage, highlighting the importance of identifying root development genes (RDGs). In this study, we identified 218 RDGs in through homology-based retrieval. Phylogenetic analysis of 22 representative species revealed that the RDGs are widely present in plants ranging from aquatic algae to angiosperms.
View Article and Find Full Text PDFBackground: To study the genetic characteristics of X-chromosome short tandem repeats (X-STRs) in the Yunnan Yi ethnic minority.
Methods: We analyzed the allele frequencies and forensic parameters for 16 X-STR loci in 432 unrelated Yi individuals (206 males and 226 females) in Chuxiong Yi Autonomous Prefecture, Yunnan Province.
Results: A total of 130 alleles were detected.
Genomics Proteomics Bioinformatics
June 2025
The revolution in large-scale human genomics and advancements in statistical methods have profoundly refined our understanding of genetic diversity and structure within human populations. Y-chromosome variations, with their distinct evolutionary characteristics, play crucial roles in reconstructing the origins and interactions of ancient East Asian paternal lineages. We launched the YanHuang cohort employing a high-resolution capture sequencing panel to explore the evolutionary trajectory of Han Chinese, one of the world's largest ethnic groups.
View Article and Find Full Text PDFThe application of spray drying for the production of probiotic microcapsules offers many attractive advantages, yet now there are concerns regarding probiotic survivability. This study explores the impact of quercetin (Que) in a whey protein isolate (WPI) and trehalose (TR) encapsulation matrix to improve probiotic survival during spray drying. Results showed that probiotic survival increased by 4.
View Article and Find Full Text PDFBackground: Preeclampsia (PE) is a significant pregnancy complication associated with adverse maternal and fetal outcomes, particularly fetal growth restriction (FGR). Identifying risk factors for FGR in PE patients can facilitate timely management and improve neonatal outcomes.
Methods: This retrospective case-control study analyzed 714 singleton pregnancies complicated by preeclampsia at Fujian Maternity and Child Health Hospital from January 2016 to October 2023.
This study systematically investigated the molecular mechanisms underlying tetrahydrocannabinol (THC)-induced hepatotoxicity in humans through an integrated approach combining network toxicology, molecular docking, and experimental validation. Our analysis identified 22 core targets associated with THC-mediated hepatotoxicity. Protein-protein interaction (PPI) network analysis revealed significant functional associations among these 22 potential target proteins.
View Article and Find Full Text PDFBackground And Objective: Studies have shown that argatroban improves 90-day functional outcomes in patients with acute ischemic stroke (AIS) with early neurological deterioration (END). However, its cost-effectiveness in this patient population remains unclear.
Methods: A combination of a short-term decision tree and a long-term Markov model was developed to calculate the total cost and effectiveness for Chinese patients with AIS with END treated with intravenous argatroban plus standard therapy or standard therapy alone.
Carbohydr Polym
June 2025
In vitro permeation test (IVPT) is a critical part of the prescription screening and evaluation of topical/transdermal drug delivery systems, in which ex vivo human skin or animal skin are generally used as skin membranes. The development of skin equivalents to replace animal/ human skins has high scientific and industrial value owing to the issues such as ethical issues and large variability of real skin. Here, a double-layer skin equivalent (DSE) containing both dermal-simulating structure and epidermal barrier function was developed.
View Article and Find Full Text PDFBackground: As a quorum sensing system, LuxS/AI-2 is closely associated with bacterial growth, biofilm formation, and virulence. As yet, it is not known how the luxS is associated with a diverse array of physiological activities in non- carbapenemase producing carbapenem resistant Escherichia coli (non-CP-CREC). The purpose of this study is to explore the characterization of AI-2/LuxS quorum sensing system in antibiotic resistance, pathogenicity of non-CP-CREC.
View Article and Find Full Text PDFBacterial diseases are the most common diseases in aquaculture worldwide, resulting in severe economic losses in the aquaculture industry. However, bacterial pathogens usually lead to non-specific clinical symptoms and are difficult to diagnose in clinical samples. Therefore, specific, sensitive, and time-saving detection methods are crucial for earlier prevention and accurate treatment of bacterial pathogens.
View Article and Find Full Text PDFRapid and ultrasensitive detection of pathogen-associated biomarkers is vital for the early diagnosis and therapy of bacterial infections. Herein, we developed a close-packed and ordered Au@AgPt array coupled with a cascade triggering strategy for surface-enhanced Raman scattering (SERS) and colorimetric identification of the biomarker micrococcal nuclease (MNase) in serum samples. The trimetallic Au@AgPt nanozymes can catalyze the oxidation of 3,3',5,5'-tetramethylbenzidine (TMB) molecules to SERS-enhanced oxidized TMB (oxTMB), accompanied by the color change from colorless to blue.
View Article and Find Full Text PDFVaccines (Basel)
February 2025
Background/objectives: Immunization with the hepatitis B vaccine is the most effective means of preventing acute HBV infection. However, whether the primary vaccination of infants confers lifelong immunity remains controversial. Therefore, the ongoing surveillance of vaccine recipients is required.
View Article and Find Full Text PDFMed Sci Monit
February 2025
BACKGROUND Placenta accreta is a spectrum disorder that can include an abnormally adherent placenta to placental tissue that invades the endometrium and myometrium and results in hemorrhage during or after delivery. King's combined uterine suture is a combination of parauterine vascular ligation with longitudinal suturing of the lower uterine segment. This retrospective study aimed to evaluate outcomes from using King's combined uterine suture for hemostasis in 49 parturient women with placenta accreta spectrum (PAS).
View Article and Find Full Text PDFSci China Life Sci
April 2025
Genomic sources from China are underrepresented in the population-specific reference database. We performed whole-genome sequencing or genome-wide genotyping on 1,207 individuals from four linguistically diverse groups (1,081 Sinitic, 56 Mongolic, 40 Turkic, and 30 Tibeto-Burman people) living in North China included in the 10K Chinese People Genomic Diversity Project (10K_CPGDP) to characterize the genetic architecture and adaptative history of ethnic groups in the Silk Road Region of China. We observed a population split between Northwest Chinese minorities (NWCMs) and Han Chinese since the Upper Paleolithic and later Neolithic genetic differentiation within NWCMs.
View Article and Find Full Text PDFPotassium, an essential inorganic cation, is crucial for the growth of oil crops like L. Given the scarcity of potassium in soil, enhancing rapeseed's potassium utilization efficiency is of significant importance. This study identified 376 potassium utilization genes in the genome of ZS11 through homologous retrieval, encompassing 7 functional and 12 regulatory gene families.
View Article and Find Full Text PDFBackground: The goal is to identify methylation sites linked to transmission and their impact on host gene expression and HBV spread, aiming to uncover new molecular targets for preventing and treating intrauterine HBV infection.
Methods: This study recruited 1205 infants born to HBsAg-positive mothers in Liuzhou City, China, between July 2023 and January 2024. Infants were followed up at 7-12 months of age and classified as HBsAg-positive (case, n = 5) or HBsAg-negative (control, n = 14) based on serological testing.
Adv Sci (Weinh)
February 2025
Prostate specific antigen (PSA) is widely used in liquid biopsy of prostate cancer (PCa) but still faces challenges due to the poor specificity. Herein, this study reports a double-SERS satellite immunoassay, made of an Au-Ag dealloyed intra-nanogap nanoflower (Au-Ag DINF) with strong SERS signals and Au magnetic nanoparticles (AuMNPs) with magnetic capture and SERS amplification, for sensing multiple PSA (free PSA (fPSA), complexed PSA (cPSA) and [-2]proPSA (p2PSA)) toward potential PCa screening. Unlike the previous studies focus on the tPSA and fPSA/tPSA ratio (f/t PSA%), this work introduces a multiple PSA-mediated Prostate Health Index (PHI) assay with significantly increased the predictive accuracy and specificity of PCa, especially the patients with a tPSA level in the "diagnostic gray zone".
View Article and Find Full Text PDFJAMA Oncol
October 2024
Background: To analyze the relationship between serum microRNA-221 and microRNA-451 expression and the pathological features and prognosis of patients with thyroid papillary carcinoma.
Methods: Cross-sectional study that included 120 patients with papillary thyroid cancer treated at the hospital and 120 healthy volunteers selected as the control group who underwent physical examination. The relative expression levels of microRNA-221 and microRNA-451 were compared between the thyroid papillary carcinoma group (prior to treatment) and the control group.
Fanconi anemia (FA) is an inherited disorder of DNA repair due to mutation in one of 20+ interrelated genes that repair intrastrand DNA crosslinks and rescue collapsed or stalled replication forks. The most common hematologic abnormality in FA is anemia, but progression to bone marrow failure (BMF), clonal hematopoiesis, or acute myeloid leukemia may also occur. In prior studies, we found that Fanconi DNA repair is required for successful emergency granulopoiesis; the process for rapid neutrophil production during the innate immune response.
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