[Study of factors associated with the false-positive rate of second-trimester serological screening in 632,825 cases in Sichuan based on propensity score matching].

Objective: To retrospectively analyze the results of second-trimester serological prenatal screening and explore the factors which may influence the false-positive rate (FPR).

Methods: From January 2013 to December 2022, false-positive samples with follow-up outcomes from 632,825 second-trimester serological prenatal screening samples tested at Sichuan Provincial Maternity and Child Health Care Hospital were selected as the study group, while true-negative samples were 1 : 1 matched as the control group by propensity-score matching (PSM). Univariate and binary logistic regression models were used to analyze the influencing factors.

Nephrogenic diabetes insipidus results from a novel in-frame deletion of gene in monozygotic-twin boys and their mother and grandmother.

Objectives: Mutations in the gene are the most common cause of nephrogenic diabetes insipidus(NDI). In-frame deletions of the gene are a rare variant that results in NDI. We report a novel variant of the p.

[Study of GCN repeats of PHOX2B gene among individuals from southwest China and diagnosis of two patients with Congenital central hypoventilation syndrome].

Objective: To study the trinucleotide repeats of GCN (GCA, GCT, GCC, GCG) encoding Alanine in exon 3 of the PHOX2B gene among healthy individuals from southwest China and two patients with Congenital central hypoventilation syndrome (CCHS).

Methods: The number and sequence of the GCN repeats of the PHOX2B gene were analyzed by capillary electrophoresis, Sanger sequencing and cloning sequencing of 518 healthy individuals and two newborns with CCHS, respectively.

Results: Among the 1036 alleles of the 518 healthy individuals, five alleles were identified, including (GCN), (GCN), (GCN), (GCN) and (GCN).

Sclareol ameliorates liver injury by inhibiting nuclear factor-kappa B/NOD-like receptor protein 3-mediated inflammation and lipid metabolism disorder in diabetic mice.

: Sclareol (SCL) is a natural diterpene with anti-inflammation and antioxidant properties. This study aimed to assess the hepatoprotective effects of SCL in diabetic mice. : SCL (10 mg/kg) was administered intragastrically to C57BL/6 mice with streptozotocin-induced diabetes daily for 5 weeks to evaluate its beneficial effects in liver injury.

Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses.

Background: Few co-occurrence cases of mosaic aneuploidy and uniparental disomy (UPD) chromosomes have been reported in prenatal periods. It is a big challenge for us to predict fetal clinical outcomes with these chromosome abnormalities because of their highly heterogeneous clinical manifestations and limited phenotype attainable by ultrasound.

Methods: Amniotic fluid samples were collected from four cases.

Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency.

Background: Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a wide range of physical findings. Female carriers usually have no clinical phenotype. Occasionally, they may also have heterogeneous features due to non-random inactivation of the X chromosome.

GSDMD promotes neutrophil extracellular traps via mtDNA-cGAS-STING pathway during lung ischemia/reperfusion.

Lung ischemia/reperfusion injury (LIRI) is a complex pathophysiological process, with the histopathological hallmark of neutrophils migrating into the lungs. Neutrophil extracellular traps (NETs) have been suggested to exert a critical role in the pathogenesis of inflammation and infection in humans and animals, while the exact functions and underlying mechanisms of NETs in LIRI remain insufficiently elucidated. In this study, we investigated the role of pore-forming protein gasdermin D (GSDMD) on NETs release in LIRI induced by lung ischemia/reperfusion (I/R).

Exosomal miR-99b-5p Secreted from Mesenchymal Stem Cells Can Retard the Progression of Colorectal Cancer by Targeting FGFR3.

Human bone marrow mesenchymal stem cells (BMSCs) are efficient mass producers of exosomes that can potentially be utilized for delivery of miRNAs in cancer therapy. The current study aimed to assess the role of MSC-exosomal miR-99b-5p during the development of colorectal cancer (CRC). The potential value of using plasma levels of exosomal miR-99b-5p for predicting the liver metastasis of colorectal cancer was also assessed.

Near-infrared laser-irradiated upconversion nanoparticles with dexamethasone precise released for alleviating lung ischemia-reperfusion injury.

Dexamethasone (DEX), as an important enduring-effect glucocorticoid (GC), holds great promise in the field of lung ischemia-reperfusion injury (LIRI) comprehensive therapy owing to its immunomodulatory properties, such as inducing apoptosis and cell cycle distribution. However, its potent anti-inflammatory application is still restricted because of multiple internal physiologic barriers. Herein, we developed upconversion nanoparticles (UCNPs) coated with photosensitizer/capping agent/fluorescent probe-modified mesoporous silica (UCNPs@mSiO[DEX]-Py/β-CD/FITC, USDPFs) for precise DEX release synergistic LIRI comprehensive therapy.

Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies.

Objective: The current study aimed to compare the characteristics of chromosome abnormalities detected by conventional G-banding karyotyping, chromosome microarray analysis (CMA), or fluorescence in situ hybridization (FISH)/CNVplex analysis and further explore the application value of combined karyotype analysis and CMA in prenatal diagnosis with a larger sample size.

Methods: From March 2019 to March 2021, 3710 amniocentesis samples were retrospectively collected from women who accepted prenatal diagnosis at 16 to 22 + 6 weeks of pregnancy. The pregnant women underwent karyotype analysis and CMA.

Resveratrol in Liquor Exacerbates Alcoholic Liver Injury with a Reduced Therapeutic Effect in Mice: An Unsupervised Herbal Wine Habit Is Risky.

People in Eastern countries hold a tradition of soaking herbal medicine in wine; however, the efficacy and safety of herbal wine have not been rigorously assessed. By assessing the efficacy of resveratrol (RSV) in ethanol against alcoholic liver disease (ALD) in mice, we aimed to offer a perspective on the use of herbal wine. To simulate the behaviour of herbal wine users, RSV (15 mg/kg) soaked in ethanol (RSV-alcohol) was administrated via gavage to the mice, here with alcohol consumption-induced ALD.

Inhibition of PD-1 Alters the SHP1/2-PI3K/Akt Axis to Decrease M1 Polarization of Alveolar Macrophages in Lung Ischemia-Reperfusion Injury.

Polarization of alveolar macrophages (AMs) into the M1 phenotype contributes to inflammatory responses and tissue damage that occur during lung ischemia-reperfusion injury (LIRI). Programmed cell death factor-1 (PD-1) regulates polarization of macrophages, but its role in LIRI is unknown. We examined the role of PD-1 in AM polarization in models of LIRI in vivo and in vitro.

Downregulation of SIRT3 Aggravates Lung Ischemia Reperfusion Injury by Increasing Mitochondrial Fission and Oxidative Stress through HIF-1-Dependent Mechanisms.

Lung ischemia-reperfusion injury (LIRI) is a severe multifaceted pathological condition that can lead to poor patient outcome where oxidative stress and the resulting inflammatory response can trigger and exacerbate tissue damage in LIRI patients. Sirtuin3 (SIRT3), a member of the sirtuin family, protects against oxidative stress-related diseases. However, it remains unclear if and how SIRT3 alleviates lung injury induced by ischemia/reperfusion (I/R).

Integrative Analysis Revealed Stemness Features and a Novel Stemness-Related Classification in Colorectal Cancer Patients.

Cancer stem cells play crucial roles in colorectal cancer (CRC) tumorigenesis and treatment response. This study aimed to determine the value of the mRNA stemness index (mRNAsi) in CRC and introduce a stemness-related classification to predict the outcome of patients. mRNAsi scores and RNA sequence data of CRC patients were analyzed.

Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype.

Background: A rare disease is that an individual with a non-chimeric karyotype of 45,X develops into a male. We explored the genetic aetiology of an infertile male with an apparent 45,X karyotype, which was subsequently verified as cryptic translocation between chromosomes Y and 15.

Methods: DNA was extracted from the patient's peripheral blood.

VX765, a Specific Caspase-1 Inhibitor, Alleviates Lung Ischemia Reperfusion Injury by Suppressing Endothelial Pyroptosis and Barrier Dysfunction.

Lung ischemia reperfusion injury (LIRI) is a complex pathophysiological process with high morbidity and mortality. An important pathophysiological characteristic of LIRI is endothelial barrier dysfunction, although the mechanism involved in this process remains unclear. VX765, a specific caspase-1 inhibitor, has been shown to have a protective effect against several diseases including sepsis, atherosclerosis, and glial inflammatory disease.

Neutrophil-Derived IL-17 Promotes Ventilator-Induced Lung Injury p38 MAPK/MCP-1 Pathway Activation.

Ventilator-induced lung injury (VILI) is one of the most common complications of mechanical ventilation and can severely affect health. VILI appears to involve excessive inflammatory responses, but its pathogenesis has not yet been clarified. Since interleukin-17 (IL-17) plays a critical role in the immune system and the development of infectious and inflammatory diseases, we investigated here whether it plays a role in VILI.

Clinical Significance and Prognostic Value of the Maximum Standardized Uptake Value of F-Flurodeoxyglucose Positron Emission Tomography-Computed Tomography in Colorectal Cancer.

Background: The role of F-flurodeoxyglucose (F-FDG) positron emission tomography-computed tomography (PET/CT) in colorectal cancer (CRC) remains unclear. This study aimed to explore the association of the maximum standardized uptake value (SUVmax), a parameter of F-FDG PET/CT, with KRAS mutation, the Ki-67 index, and survival in patients with CRC.

Methods: Data of 66 patients with CRC who underwent F-FDG PET/CT was retrospectively collected in our center.

An NF-κB-responsive long noncoding RNA, PINT, regulates TNF-α gene transcription by scaffolding p65 and EZH2.

Long noncoding RNAs (lncRNAs) are central regulators of the inflammatory response and play an important role in inflammatory diseases. PINT has been reported to be involved in embryonic development and tumorigenesis. However, the potential functions of PINT in the innate immune system are largely unknown.

Zebrafish as an emerging model to study gonad development.

The zebrafish () has emerged as a popular model organism in developmental biology and pharmacogenetics due to its attribute of pathway conservation. Coupled with the availability of robust genetic and transgenic tools, transparent embryos and rapid larval development, studies of zebrafish allow detailed cellular analysis of many dynamic processes. In recent decades, the cellular and molecular mechanisms involved in the process of gonad development have been the subject of intense research using zebrafish models.

LPS-Inducible lncRNA TMC3-AS1 Negatively Regulates the Expression of IL-10.

Long non-coding RNAs are essential regulators of the inflammatory response, especially for transcriptional regulation of inflammatory genes. It has been reported that the expression of transmembrane channel-like 3 (TMC3)-AS1 is increased following lipopolysaccharide stimulation. However, the potential function of TMC3-AS1 in immunity is largely unknown.

The decomposition and ecological risk of DDTs and HCHs in the soil-water system of the Meijiang River.

This research project was designed to study the residues of OCPs (organochlorine pesticides) in the sediments of the Meijiang River Basin. Samples from the Meijiang River Basin were analyzed by gas chromatography-mass spectrometry after being pretreated by Soxhlet extraction, and their compositions, distributions and sources were evaluated. The current study presents the distribution of OCPs in the soils and sediments of the Meijiang River Basin.

A Long Noncoding RNA, Antisense IL-7, Promotes Inflammatory Gene Transcription through Facilitating Histone Acetylation and Switch/Sucrose Nonfermentable Chromatin Remodeling.

Long noncoding RNAs are important regulators of gene expression in innate immune responses. Antisense IL-7 (IL-7-AS) is a newly discovered long noncoding RNA in human and mouse that has been reported to regulate the expression of IL-6. However, the potential function of IL-7-AS in innate immune system is not fully understood.