Scaling up spatial transcriptomics for large-sized tissues: uncovering cellular-level tissue architecture beyond conventional platforms with iSCALE.

Recent advances in spatial transcriptomics (ST) technologies have transformed our ability to profile gene expression while retaining the crucial spatial context within tissues. However, existing ST platforms suffer from high costs, long turnaround times, low resolution, limited gene coverage, and small tissue capture areas, which hinder their broad applications. Here we present iSCALE, a method that predicts super-resolution gene expression and automatically annotates cellular-level tissue architecture for large-sized tissues that exceed the capture areas of standard ST platforms.

A probabilistic modeling framework for genomic networks incorporating sample heterogeneity.

Probabilistic graphical models are powerful tools to quantify, visualize, and interpret network dependencies in complex biological systems such as high-throughput -omics. However, many graphical models assume sample homogeneity, limiting their effectiveness. We propose a flexible Bayesian approach called graphical regression (GraphR), which (1) incorporates sample heterogeneity at different scales through a regression-based formulation, (2) enables sparse sample-specific network estimation, (3) identifies and quantifies potential effects of heterogeneity on network structures, and (4) achieves computational efficiency via variational Bayes algorithms.

A case of transient elevation of creatinine caused by severe hyperuricemia.

Background: To explore the underlying causes of significant fluctuations in creatinine levels within three days due to transient and severe uric acid elevation, and to provide evidence for the interpretation of abnormal test results and clinical diagnosis and management.

Methods: The issues were resolved by retesting the samples, comparing results across different detection platforms, and analyzing the reaction curve. We comprehensively reviewed patients' general conditions, imaging examinations, and treatments.

Expanded carrier screening for 224 monogenic disease genes in 1,499 Chinese couples: a single-center study.

Objectives: Expanded carrier screening (ECS) is a preventive genetic test that enables couples to know their risk of having a child affected by certain monogenetic diseases. This study aimed to evaluate the carrier frequency for rare monogenic diseases in the general Chinese population and the impacts of ECS on their reproductive decisions and pregnancy outcomes.

Methods: This single-center study was conducted between September 2022 and April 2023.

[Endothelial cells and fibroblasts mediate the microenvironmental regulatory network of carotid body paraganglioma].

To explore the gene expression characteristics of endothelial cells and fibroblasts in the microenvironment of -mutated carotid body tumors（-CBT）, to fine the functional enrichment of each subcluster, and to further explore the network of cell-cell interactions in the microenvironment of -CBT. The bioinformatics analysis was used to download and reanalyze the single-nuclear RNA sequencing data of -CBT, mutated thoracic and abdominal paraganglioma（-ATPGL）, -CBT, and normal adrenal medulla（NAM）, to clarify the information of cell populations of the samples. We focused on exploring the gene expression profiles of endothelial cells and fibroblasts subclusters, and performed functional enrichment analysis based on Gene Ontology（GO） resources.

Constructing wetland ecological corridor system based on hydrological connectivity with the goal of improving regional biodiversity.

Hydrological connectivity is crucial for the healthy operation of wetland ecosystems. However, the current design of ecological corridors in wetland biodiversity networks is mostly based on species migration resistance, neglecting the important role of hydrological connectivity. How to incorporate hydrological connectivity into the wetland ecological corridor system (ECS) is still unclear.

Spatial Single-cell Analysis Decodes Cortical Layer and Area Specification.

The human cerebral cortex, pivotal for advanced cognitive functions, is composed of six distinct layers and dozens of functionally specialized areas. The layers and areas are distinguished both molecularly, by diverse neuronal and glial cell subtypes, and structurally, through intricate spatial organization. While single-cell transcriptomics studies have advanced molecular characterization of human cortical development, a critical gap exists due to the loss of spatial context during cell dissociation.

Noninvasive prenatal screening in a pregnant woman with a history of stem cell transplant from a male donor: A case report and literature review.

Background: As a screening method, inaccuracies in noninvasive prenatal screening (NIPS) exist, which are often attributable to biological factors. One such factor is the history of transplantation. However, there are still limited reports on such NIPS cases.

Increased SERPINB2 potentiates 15LO1 expression via STAT6 signalling in epithelial cells in eosinophilic chronic rhinosinusitis with nasal polyps.

Background: SERPINB2, a biomarker of Type-2 (T2) inflammatory processes, has been described in the context of asthma. Chronic rhinosinusitis with nasal polyps (CRSwNP) is also correlated with T2 inflammation and elevated 15LO1 induced by IL-4/13 in nasal epithelial cells. The aim of this study was to evaluate the expression and location of SERPINB2 in nasal epithelial cells (NECs) and determine whether SERPINB2 regulates 15LO1 and downstream T2 markers in NECs via STAT6 signalling.

Insights from bioinformatics analysis reveal that lipopolysaccharide induces activation of chemokine-related signaling pathways in human nasal epithelial cells.

Lipopolysaccharide (LPS) is known to elicit a robust immune response. This study aimed to investigate the impact of LPS on the transcriptome of human nasal epithelial cells (HNEpC). HNEpC were cultured and stimulated with LPS (1 μg/mL) or an equivalent amount of normal culture medium.

Optical Genome Mapping for Chromosomal Aberrations Detection-False-Negative Results and Contributing Factors.

Optical genome mapping (OGM) has been known as an all-in-one technology for chromosomal aberration detection. However, there are also aberrations beyond the detection range of OGM. This study aimed to report the aberrations missed by OGM and analyze the contributing factors.

PM activates IL-17 signaling pathway in human nasal mucosa-derived fibroblasts.

Fine particulate matter (PM) represents a prevalent environmental pollutant in the atmosphere, capable of exerting deleterious effects on human health. Numerous studies have indicated a correlation between PM exposure and the development of chronic upper airway inflammatory diseases. The objective of this study was to investigate the impact of PM on the transcriptome of fibroblasts derived from nasal mucosa.

Residual risk of clinically significant copy number variations in fetuses with nasal bone absence or hypoplasia after excluding non-invasive prenatal screening-detectable findings.

Background: It remains controversial whether prenatal screening or diagnostic testing should be offered to fetuses with nasal bone (NB) absence or hypoplasia, and there are no studies comparing the yield of chromosomal microarray analysis (CMA) to non-invasive prenatal screening (NIPS). The aim of this study was to evaluate the residual risk of clinically significant copy number variations (CNVs) in fetuses with NB absence or hypoplasia after excluding theoretically NIPS-detectable abnormalities, and to assess their clinical outcomes.

Methods: This prospective study encompassed 400 fetuses with NB absence or hypoplasia undergoing CMA testing between 2015 and 2022.

A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly.

Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder characterized by arachnodactyly, multiple joint contractures, progressive kyphoscoliosis, pectus deformity and abnormal crumpled ears. FBN2 is the only gene currently known to be associated with CCA. In this study, we report on a prenatal case presented with skeletal, cardiac and spinal malformations.

COVID-19 vaccination in the mass vaccination center: clinical practice and effectiveness analysis.

Objectives: Mass vaccination campaigns can rapidly increase the vaccination rate for the COVID-19 vaccine, the establishment of mass vaccination centers is indispensable. At the beginning of March 2021, China began to carry out COVID-19 vaccination activities nationwide. Here, we aimed to evaluate the criteria established by mass vaccination centers, COVID-19 vaccination experience, the incidence of adverse events following immunization and opinions.

Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis.

Background: Emerging studies suggest that whole genome sequencing provides additional diagnostic yield of genomic variants when compared with chromosomal microarray analysis in the etiologic diagnosis of infants and children with suspected genetic diseases. However, the application and evaluation of whole genome sequencing in prenatal diagnosis remain limited.

Objective: This study aimed to evaluate the accuracy, efficacy, and incremental yield of whole genome sequencing in comparison with chromosomal microarray analysis for routine prenatal diagnosis.

[Application of ethmoid artery pedicled septal floor mucosa flap in repair of postoperative cerebrospinal fluid leak after transsphenoidal pituitary surgery].

To investigate the safety and effectiveness of the ethmoid artery pedicled septal floor mucosal flap in repair of postoperative cerebrospinal fluid leakage after transsphenoidal pituitary tumor surgery.Methods: The clinical data of 6 patients with cerebrospinal fluid leak in Department of Otolaryngology Head and Neck Surgery, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from June 2011 to June 2022. In 6 patients with postoperative cerebrospinal fluid leakage after transsphenoidal pituitary surgery, the bilateral posterior septal arteries were sacrificed due to the endoscopic transsphenoidal expanded approach, so the ethmoid artery pedicled septal floor mucosal flaps were adopted.

Sinonasal diffuse large B-cell lymphoma in a patient with Wiskott-Aldrich syndrome: A case report and literature review.

Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency disease with a predisposition towards autoimmunity and lymphoproliferative diseases. Non-Hodgkin lymphoma (NHL) is reported to be the predominant form of malignant tumor in WAS sufferers. Diffuse large B-cell lymphoma (DLBCL) is one of the most common types of NHL while it is uncommon to occur in paranasal sinuses and especially when associated with WAS.

Increased CYR61 expression activates CCND1/c-Myc pathway to promote nasal epithelial cells proliferation in chronic rhinosinusitis with nasal polyps.

Purpose: Chronic rhinosinusitis (CRS) with nasal polyps (CRSwNP) is a chronic sinonasal inflammatory disease characterized histologically by hyperplastic nasal epithelium and epithelial cells proliferation. Cysteine-rich angiogenic inducer 61 (CYR61) acts as a positive regulator of cell cycle process. Cyclin D1 (CCND1) and c-Myc play key roles in the processes of cell cycle and cell growth.

M2 macrophage-related gene signature in chronic rhinosinusitis with nasal polyps.

Background: Chronic rhinosinusitis with nasal polyps (CRSwNP) is a common sinonasal inflammatory disorder with high heterogeneity. Increasing evidence have indicated that the infiltration of macrophages especially M2 macrophages play pivotal roles in the pathogenesis of CRSwNP, but the underlying mechanisms remain undetermined. This study sought to identify potential biomarkers related to M2 macrophages in CRSwNP.

[Prenatal diagnosis of fetuses with renal anomalies by whole genome sequencing].

Objective: To explore the genetic basis for fetuses with renal anomalies.

Methods: Genomic DNA of four fetuses and their parents was extracted from amniotic fluid and peripheral blood samples and subjected to whole genome sequencing. Candidate variants were predicted according to the American College of Medical Genetics and Genomics (ACMG) guidelines and validated by SNP-array and Sanger sequencing.

Exploring Spatial Relationship between Restoration Suitability and Rivers for Sustainable Wetland Utilization.

Wetlands are important ecosystems for biodiversity preservation and environmental regulation. However, the integrity of wetland ecosystems has been seriously compromised and damaged due to the reckless and indiscriminate exploitation of wetland resources during economic development by human society. Hence, wetland restoration has now attracted wide attention.