Guangzhou Women and Children Medical Center

scGEN: Leveraging an Adaptive Weighting Strategy for Challenging Cell Clustering in Single‐Cell RNA‐seq

ABSTRACT Recent advancements in single‐cell RNA sequencing (scRNA‐seq) have greatly enhanced our ability to dissect cellular heterogeneity. However, unsupervised clustering often struggles to identify transitional or developmental boundary cells, as existing methods rely on highl...

Development and application of a smartphone-based thermal contrast amplification reader for photothermal lateral flow immunoassays

The high cost and poor portability of external infrared thermal imagers have limited the widespread adoption of photothermal lateral flow immunoassays (PT-LFIAs) in on-site testing. To address this, we developed a smartphone-based handheld Thermal Contrast Amplification (TCA) Rea...

AI-assisted discovery of an ABCA1/ABCG1 activator for restoring mitophagy and mitigating Alzheimer’s pathology

Abstract Defective mitophagy is a key pathological risk of Alzheimer’s disease (AD), yet available pharmacological agents capable of restoring mitophagy remain clinically limited, largely due to the lack of tools for drug screening and target identification. To address this, we i...

Genetic Investigation of Pregnancies With an Isolated Fetal Pelvic Kidney

ABSTRACT Objective To explore genetic investigative results in fetuses with isolated pelvic kidney. Methods This was a retrospective study of 212 fetuses with isolated pelvic kidney diagnosed on second trimester anatomy ultrasound. All cases underwent invasive prenatal diagnosis...

Prenatal Sonographic Features of Heterozygous DLL1 Single‐Nucleotide Variants and 6q27 Deletions: A Single Referral Center Retrospective Case Series

ABSTRACT Objective To present the prenatal sonographic features and genomic spectrum of pregnancies with fetuses with a DLL1 single‐nucleotide variant (SNV) or a pure 6q27 deletion. Methods This was a retrospective study of 20 cases with a DLL1 SNV or a pure 6q27 deletion diagnos...

Single-nucleus transcriptomics reveals an early-relapse-associated epithelial–myeloid–T cell niche in advanced high-grade serous ovarian cancer

Early relapse remains a major clinical challenge in advanced HGSOC, but the tumor microenvironmental features associated with relapse timing remain poorly defined. Here, we performed snRNA-seq on treatment-naive tumors from patients with advanced HGSOC, including STDFS ( n = 4) a...

A novel splice-site variant in CNKSR2 causes exon 16 skipping and X-linked syndromic intellectual developmental disorder

CNKSR2 -related neurodevelopmental disorder is an X-linked condition characterized by developmental delay, severe language impairment, intellectual disability, and early-onset epilepsy. Although splice-altering variants constitute an important proportion of pathogenic CNKSR2 vari...

Incidence, prevalence and outcomes of neonatal sepsis: a population-based cohort study of hospitalized neonates in Huai’an, China

Background This study aims to estimate the incidence, prevalence of morbidity and mortality rate (MR), associated risks, and the applicability of neonatal sequential organ failure assessment (nSOFA), of neonatal sepsis from a database of all hospitalized infants in a representati...

Cross-Cohort Integration of Blood DNA Methylation and Sepsis Transcriptomes Prioritizes TP53INP1 as a Candidate Associated with B-Cell Transcriptomic Patterns in Pediatric HAdV-7-Associated Sepsis

Human adenovirus type 7 (HAdV-7) can cause severe pneumonia and sepsis in children, but the associated host epigenetic and immune alterations remain poorly defined. We profiled peripheral-blood DNA methylation in 11 children with HAdV-7-associated sepsis (6 survivors and 5 non-su...

Common SAEs and their impact on the prognosis of children treated with the CCCG-ALL-2015 protocol: a retrospective multicentre Chinese study

This study was intended to evaluate common serious adverse events (SAEs) and analyze their effects on the prognosis of acute lymphoblastic leukemia (ALL) children. We retrospectively collected the data of 7640 consecutive ALL children with/ without SAEs who were enrolled in CCCG-...

Hybrid long-read sequencing reveals genomic homogeneity, blaZ copy-number variation, and phenotypic adaptation of the emerging Asian ST188 MSSA lineage from pediatric gut and vaginal colonization sites, Southern China

Staphylococcus aureus ( S. aureus ) ST188 has emerged as an important methicillin-susceptible clonal lineage in Asia and is frequently associated with human colonization and community-acquired infections. This study investigates ST188 isolates from aerobic vaginitis and pediatric...

MOCR-DB: The Multi-Omics Causal Resource Database for Genetic Correlation, Causal Inference, and Functional Interpretation

Abstract Genome-wide association studies (GWAS) have revealed extensive polygenic signals and overlapping genetic architectures across human traits, creating a need for resources that connect trait-level genetic relationships with gene-level functional evidence. Here, we develope...

A necroptotic-to-apoptotic signaling axis underlies inflammatory bowel disease

ABSTRACT Inflammatory bowel disease (IBD) is a chronic condition caused by altered cytokine signaling, maladaptive immunity, dysbiosis, and intestinal barrier dysfunction. Patients with IBD receive therapy to correct these imbalances and achieve remission. However, most patients...

Mapping the senescent stromal landscape and altered the immune microenvironment in PCOS endometrium

Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder affecting approximately 10% of reproductive-aged women and is a major cause of infertility. Inadequate endometrial receptivity is a pivotal contributor to this infertility, but its underlying cellular mechanisms r...

A large-scale multi-center analysis reveals that HNRNPA2B1 variants increase neuroblastoma risk in Chinese children

Neuroblastoma has significant clinical heterogeneity, more precise genetic biomarkers are needed for early risk stratification. Although m 6 A modification has been reported to affect tumor development, the epidemiological impact of HNRNPA2B1 polymorphisms on neuroblastoma suscep...

YAP delactylation enhances therapy resistance in renal cell carcinoma

Abstract Lactylation is a novel lysine acylation modification, and its function and exact mechanisms remain unclear. The responsiveness to combined targeted and immunotherapy continues to be a major challenge in cancer treatment. Here, we discovered that lysine lactylation (Kla)...

Genetic Predisposition and Pharmacological Effects Shape the Divergent Effects of Type 2 Diabetes on Atherosclerosis

Abstract Type 2 diabetes mellitus (T2D) increases the risk of atherosclerotic diseases, including coronary artery disease (CAD), but decreases that for abdominal aortic aneurysm (AAA), forming an intriguing diabetes-atherosclerosis paradox. We investigate how genetic underpinning...

Integrative transcriptomic and functional profiling reveals neutrophil-associated immune dysregulation in bronchopulmonary dysplasia

Bronchopulmonary dysplasia (BPD) is the most common chronic lung disease in preterm infants. Although inflammation is broadly recognized as a key contributor to BPD, the precise roles and underlying mechanisms of immune cells in BPD pathogenesis remain incompletely understood. Mo...

The VASN-YAP-MYL9 axis drives M2-like macrophage polarization and immune evasion in colorectal cancer

Tumor-associated macrophages (TAMs) polarized toward an M2-like phenotype are critical drivers of immunosuppression in colorectal cancer (CRC). While Vasorin (VASN) is implicated in poor prognosis, its specific role in orchestrating the tumor immune microenvironment remains elusi...

Early prediction of preeclampsia among the advanced-age pregnant women: A retrospective multicenter study

Background Preeclampsia (PE) remains a leading cause of maternal and perinatal morbidity. Women of advanced maternal age (AMA, ≥ 35 years) constitute a rapidly expanding high-risk subpopulation in China. Existing first-trimester prediction models were derived in general obstetric...