Diagnostic efficacy of fecal-based miR-92a for advanced colorectal neoplasia: a prospective multicenter screening trial.

Background: More efficacious, noninvasive screening methods are needed for advanced colorectal neoplasia. miR-92a is a reliable and reproducible biomarker for early colorectal cancer detection in stool samples. We compared the diagnostic efficacies of miR-92a, immunochemical fecal occult blood testing (FIT), and their combination (FIT + miR-92a) in a prospective multicenter screening trial.

Chemical-Resistant, Highly-Impermeable Integration of Large Differential Semiconductor and Oxide by Spatial-Confined Plasma Assisted Ultrafast Laser Microwelding for Optofluidic Microsystem.

Large-differential semiconductor and oxide interconnect are widely used in high-performance multi-function integrated microsystems. In this work, spatial-confined plasma-assisted ultrafast laser microwelding has been developed to activate the inert surface and improve mass transportation for robust semiconductor-oxide integration. The inherent stress concentration within the weld of semiconductor (Si) and oxide (Sapphire) can be compensated by inserting hundreds-of-nanometer-thick intermediate oxide layer (SiO).

Increased HA/CD44/TGFβ signaling implicates in renal fibrosis of a Col4a5 mutant Alport mice.

X-linked Alport syndrome (XLAS) caused by X-linked COL4A5 gene mutation is a hereditary disease that affects mainly the kidney. XLAS patients, especially males whose single copy of the COL4A5 gene is disrupted, suffer from a life-threatening renal disease, the mechanism of which remains unclear. Renal fibrosis is a characteristic pathology observed in XLAS kidney tissue.

Strain-Controlled Silicon Patterning on Sapphire Wafer by Ultrafast Laser-Induced Backward Transfer.

Strain engineering of patterned silicon on a sapphire wafer is achieved by modulating the spatial confined plasma during ultrafast laser-induced backward transfer. High-energy laser-ablated silicon plasma can be generated within the confined space, where a transitional SiO layer is formed in the silicon-sapphire interface. Heat transfer to sapphire can thus be hindered, which is beneficial for thermal accumulation in silicon and crystallinity improvement.

Two GNPTAB Variations Caused Mucolipidosis II Alpha/Beta in a Chinese Family.

Mucolipidosis II alpha/beta (ML II) is an autosomal recessive disorder with craniofacial dysmorphism and bone deformities. The variants in are associated with ML II. A female pediatric patient presented with bone deformities, mental and motor developmental abnormalities and craniofacial dysmorphism.

Ultrafast Laser-Induced Thickness-Limited Sintering of Metal Nanoparticle Film for Ultrathin Flexible Microelectronic Devices.

Laser sintering of metal nanoparticles (NPs) has been widely used in flexible microelectronic device fabrication, wherein the sintered layer thickness is a key factor affecting the mechanical stability and conductivity. In this work, ultrathin flexible electronic circuits on flexible substrates with robust bonds and excellent conductivity have been fabricated through ultrafast laser-induced thickness-limited sintering of the metal NP film. When the laser fluence is below the damage threshold of the metal NP film, sintered layer thickness can be controlled by the laser parameters.

Aberrant Fetal Brain Sulcus Formation: A Clue to the Diagnosis of Sotos Syndrome.

Objective: This study aims to elucidate two distinct fetal ultrasound features associated with aberrant brain sulcus formation as potential prenatal markers for Sotos syndrome caused by mutations in the NSD1 gene.

Method: This retrospective study investigated three fetuses across two pregnancies, including a pair of monochorionic diamniotic twins, all diagnosed with Sotos syndrome via whole exome sequencing (WES). Comprehensive clinical and laboratory data were collected and analyzed.

Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities.

Objective: To investigate the clinical value of whole-exome sequencing (WES) in the diagnosis of foetuses with central nervous system (CNS) abnormalities but having a normal karyotyping and chromosomal microarray result.

Method: During the period of 2016-2022, there were a total of 149 foetuses with CNS abnormalities but having negative karyotyping and chromosomal microarray analysis results; WES was performed on these foetuses and their parents. Variants were classified according to ACMG guidelines, and the association of pathogenic variants with specific types of CNS abnormalities was explored.

A distinct subset of urothelial cells with enhanced EMT features promotes chemotherapy resistance and cancer recurrence by increasing COL4A1-ITGB1 mediated angiogenesis.

Drug resistance and tumor recurrence remain clinical challenges in the treatment of urothelial carcinoma (UC). However, the underlying mechanism is not fully understood. Here, we performed single-cell RNA sequencing and identified a subset of urothelial cells with epithelial-mesenchymal transition (EMT) features (EMT-UC), which is significantly correlated with chemotherapy resistance and cancer recurrence.

Metal Nanoparticles Assisted Ultrafast Laser Plasmonic Microwelding of Oxide-Semiconductor Interconnects.

Integration of wafer-scale oxide and semiconductor materials meets the difficulties of residual stress and materials incompatibility. In this work, Ag NPs thin film is contributed as an energy confinement layer between oxide (Sapphire) and semiconductor (Si) wafers to localize the materials interaction during ultrafast laser irradiation. Due to the plasmonic effects generated within constructed dielectric-metal-dielectric structures (i.

Carrier screening for spinal muscular atrophy in 22913 Chinese reproductive age women.

Background: To determine the carrier frequency of, and evaluate a carrier screening program for, spinal muscular atrophy (SMA) in reproductive age women in Shenzhen area.

Methods: A staged screening procedure was used to perform carrier screening for SMA in 22,913 Chinese reproductive age women between 2019 and 2022 in Shenzhen area of China. First, the copy number of exon 7 in the SMN1 gene were detected in women of reproductive age using real-time quantitative polymerase chain reaction.

Rapid and sensitive detection of Mycoplasma synoviae using RPA combined with Pyrococcus furiosus Argonaute.

Mycoplasma synoviae (MS) is an important pathogen in laying hens and causes serious economic losses in poultry production. Rapid, accurate and specific detection is important for the prevention and control of MS. Argonaute from Pyrococcus furiosus (PfAgo) is emerging as a nucleic acid detector that works via "dual-step" sequence-specific cleavage.

Application of non-invasive prenatal testing in screening chromosomal aberrations in pregnancies with different nuchal translucency cutoffs.

Objective: To investigate the efficiency of non-invasive prenatal testing (NIPT) in cases with different cutoffs of nuchal translucency (NT).

Methods: The study retrospectively analyses pregnancies with NT ≥ 2.5 mm who underwent NIPT.

Knockdown of TXNDC5 alleviates CCL4-induced hepatic fibrosis in mice by enhancing endoplasmic reticulum stress.

Background: Hepatic fibrosis is a common pathological process in many chronic liver diseases. TXNDC5 has been shown to be involved in the progression of renal and pulmonary fibrosis. However, the role of TXNDC5 in hepatic fibrosis is unknown.

Dynamic changes in macrophage subtypes during lung cancer progression and metastasis at single-cell resolution.

Background: Lung cancer remains a major global health challenge. Macrophages (Macs) are one important component of tumor microenvironments (TMEs); however, their prognostic relevance to lung cancer is currently unknown due to the complexity of their phenotypes.

Methods: In the present study, reanalysis and atlas reconstruction of downloaded single-cell RNA sequencing (scRNAseq) data were used to systematically compare the component and transcriptional changes in Mac subtypes across different stages of lung cancer.

Establishment and Validation of a Nomogram Prediction Model for the Severe Acute Pancreatitis.

Background: Severe acute pancreatitis (SAP) can progress to lung and kidney dysfunction, and blood clotting within 48 hours of its onset, and is associated with a high mortality rate. The aim of this study was to establish a reliable diagnostic prediction model for the early stage of severe pancreatitis.

Methods: The clinical data of patients diagnosed with acute pancreatitis from October 2017 to June 2022 at the Shangluo Central Hospital were collected.

A mouse model for X-linked Alport syndrome induced by Del-ATGG in the gene.

Alport syndrome (AS) is an inherited glomerular basement membrane (GBM) disease leading to end-stage renal disease (ESRD). X-linked AS (XLAS) is caused by pathogenic variants in the gene. Many pathogenic variants causing AS have been detected, but the genetic modifications and pathological alterations leading to ESRD have not been fully characterized.

Computational Drug Discovery in Ankylosing Spondylitis-Induced Osteoporosis Based on Data Mining and Bioinformatics Analysis.

Background: Ankylosing spondylitis (AS) and osteoporosis (OP) are both prevalent illnesses in spine surgery, with OP being a possible consequence of AS. However, the mechanism of AS-induced OP (AS-OP) remains unknown, limiting etiologic research and therapy of the illness. To mine targetable medicine for the prevention and treatment of AS-OP, this study analyzes public data sets using bioinformatics to identify genes and biological pathways relevant to AS-OP.

Inhibition of IL1R1 or CASP4 attenuates spinal cord injury through ameliorating NLRP3 inflammasome-induced pyroptosis.

Spinal cord injury (SCI) is a devastating trauma characterized by serious neuroinflammation and permanent neurological dysfunction. However, the molecular mechanism of SCI remains unclear, and few effective medical therapies are available at present. In this study, multiple bioinformatics methods were used to screen out novel targets for SCI, and the mechanism of these candidates during the progression of neuroinflammation as well as the therapeutic effects were both verified in a rat model of traumatic SCI.

Autophagy activation by dietary piceatannol enhances the efficacy of immunogenic chemotherapy.

Immunogenic cell death (ICD) promotes the immune antitumor response releasing damage-associated molecular patterns (DAMPs) from dying tumor cells. The induction of autophagy improves the efficacy of multiple immunogenic chemotherapies. Here, we show that piceatannol, a dietary phenolic compound that is widely distributed in multiple fruits and vegetables such as grapes, blueberries, and mushrooms, induces autophagy and enhances oxaliplatin (OXA)-induced anticancer immune response.

Drug discovery in spinal cord injury-induced osteoporosis: a text mining-based study.

Background: Spinal cord injury (SCI) and osteoporosis (OP) are common diseases in spine surgery, and OP could be the complication of SCI. However, SCI-induced OP is a complex pathologic process and drug discovery is limited, which restricts the study in the mechanism and treatment of the disease. This study aims to identify the genes and molecular pathways related to SCI-induced OP through computational tools and public datasets, and to explore drug targeting therapy, ultimately preventing the occurrence of OP after SCI.

Drug Discovery in Spinal Cord Injury With Ankylosing Spondylitis Identified by Text Mining and Biomedical Databases.

Spinal cord injury (SCI) and ankylosing spondylitis (AS) are common inflammatory diseases in spine surgery. However, it is a project where the relationship between the two diseases is ambiguous and the efficiency of drug discovery is limited. Therefore, the study aimed to investigate new drug therapies for SCI and AS.