A5101685234- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Parvovirus B19 Infection Studies
- Pregnancy and preeclampsia studies
- Fetal and Pediatric Neurological Disorders
- Congenital heart defects research
- Assisted Reproductive Technology and Twin Pregnancy
- Infectious Encephalopathies and Encephalitis
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Birth, Development, and Health
- Tracheal and airway disorders
- Metabolomics and Mass Spectrometry Studies
- Congenital Heart Disease Studies
- Genetic and Kidney Cyst Diseases
- Cancer-related molecular mechanisms research
- Cystic Fibrosis Research Advances
- Chromosomal and Genetic Variations
- Genetic Syndromes and Imprinting
- Drug Transport and Resistance Mechanisms
- Iron Metabolism and Disorders
- Amino Acid Enzymes and Metabolism
- ATP Synthase and ATPases Research
- Epigenetics and DNA Methylation
- Metabolism and Genetic Disorders
International Peace Maternity & Child Health Hospital
2013-2025
Shanghai Jiao Tong University
2013-2025
Xi'an Jiaotong University
2024
University of Toyama
2023
Ottawa Hospital
2021
Ottawa Hospital Research Institute
2021
Hubei University of Medicine
2021
Shanghai Municipal People's Government
2021
Shanghai First People's Hospital
2021
Abstract BACKGROUND In the human fetus, sex chromosome aneuploidies (SCAs) are as prevalent common autosomal trisomies 21, 18, and 13. Currently, most noninvasive prenatal tests (NIPTs) offer screening only for chromosomes 13, because sensitivity specificity markedly higher than chromosomes. Limited studies suggest that reduced accuracy associated with detecting SCAs is due to confined placental, or true fetal mosaicism. We hypothesized an altered maternal karyotype may also be important...
Caspase-11 detection of intracellular lipopolysaccharide mediates non-canonical pyroptosis, which could result in inflammatory damage and organ lesions various diseases such as sepsis.Our research found that lactate from the microenvironment acetaminophen-induced acute liver injury increased levels, enhanced gasdermin D activation accelerated macrophage lead to exacerbation injury.Further experiments unveiled inhibits ubiquitination by reducing its binding NEDD4, a negative regulator...
Abstract Objective This study aimed to explore genetic etiologies of conotruncal defects (CTDs) in fetuses by analyzing the results different tests and assess pregnancy outcomes with CTD a Chinese prenatal cohort. Methods A total 146 that underwent invasive testing for at diagnosis center International Peace Maternity Child Health Hospital between January 2018 December 2022 were retrospectively analyzed. All them chromosomal microarray analysis (CMA) karyotype analysis, but only 27...
Objective: To evaluate submicroscopic chromosomal abnormalities in fetuses with increased nuchal translucency (NT) and normal karyotype.Methods: A total of 319 NT (≥3.0 mm) were tested using conventional karyotyping. When cytogenetic analysis showed chromosomes, the parents then received a consultation for microarray (CMA) analysis, subsequent morphology scan was performed between 20 24 weeks gestation. Submicroscopic assessed compared without structural defects. Likewise, prevalence...
Abstract Background Mitochondria have been shown to play vital roles during severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection and disease 2019 (COVID-19) development. Currently, it is unclear whether mitochondrial DNA (mtDNA) variants, which define mtDNA haplogroups determine oxidative phosphorylation performance reactive oxygen species production, are associated with COVID-19 risk. Methods A population-based case–control study was conducted compare the distribution of...
Joubert syndrome (JS) is a genetically heterogeneous disorder; its genetic etiology involves more than 35 genes, and limited number of studies have investigated the pathogenic mechanism variants in patients with JS. RNA splicing analysis critical to determine functional significance for noncanonical variants.Whole exome sequencing was performed screen causative gene JS family. Sanger used verify variants. cDNA PCR products were analyzed experiments pathogenicity variants.The clinical...
Background Neurodegenerative processes in Alzheimer’s disease (AD) are associated with excitotoxicity mediated by the N -methyl- D -aspartate receptor (NMDAR). -Serine is an endogenous co-agonist necessary for NMDAR-mediated excitotoxicity. In mammalian brain, it produced serine racemase (SRR) from L -serine, suggesting that dysregulation of or SRR may contribute to AD pathogenesis. Objective and methods We examined contributions -serine pathology App NL–G–F/NL–G–F gene knock-in (APPKI)...
Abstract Objectives The aim of the study is to synthesize evidence and evaluate total cell-free deoxyribonucleic (cfDNA) associated with prediction preeclampsia (PE). Total cfDNA constituted by both fetal DNA (cffDNA) originated mainly from placenta, maternal derived leukocytes. Methods A systematic review was conducted searching PubMed Medline. Literature reporting levels in development PE included. Studies that only reported cffDNA, but no concentrations were not included this review....
Abstract Purpose To explore the relationship between rs2291075 polymorphism in SLCO1B1 gene, which encodes an influx transmembrane protein transporter, and tacrolimus dose–corrected trough concentration (C/D, ng ml −1 mg kg ) early period after liver transplantation. Methods CYP3A5 rs776746 polymorphisms of 210 transplantation patients their corresponding donor livers were assessed by PCR amplification DNA sequencing. The influence gene on C/D values was analyzed. postoperative divided into...
In singleton pregnancies, maternal complications, such as preeclampsia and thyroid dysfunction are associated with small for gestational age (SGA). However, data on the association between SGA complications in twin pregnancies limited conflicting. Small sample size application of birth weight reference (SBWR) to define twins may be reasons inconsistent conclusions. Purpose this study was dichorionic diamniotic (DCDA) monochorionic (MCDA) using both SBWR (TBWR) determine whether certain...
This study aimed to investigate the genetic etiologies of fetuses with single atria and/or ventricle (SA or/and SV) using different detection methods in a Chinese prenatal cohort.In this retrospective study, various results 44 SA SV were analyzed. All cases tested by chromosomal microarray analysis (CMA) and karyotyping simultaneously, 8 underwent whole exome sequencing (WES). Data on pregnancy outcomes neonatal prognoses collected from medical records postnatal follow-up.The cohort included...
Chromosome 1p36 deletion syndrome is a contiguous genetic disorder with multiple congenital anomalies and mental retardation. It has been emerging as one of the most common terminal syndromes in humans rapid utility microarray analysis. However, prenatal findings are still limited. We report fetus cardiac phenotype dextrocardia, combined balanced translocation between chromosome 5 6. The dextrocardia rarely reported cases.We present case heart diseases single umbilical artery. Fetal...
What's Already Known About This Topic? Wolf–Hirschhorn syndrome is a genetic disorder caused by partial deletion of the short arm chromosome It consists broad spectrum clinical manifestations. The size also varies significantly. What Does Study Add? study found that non‐coding RNA (NR_130734) might be involved in cardiovascular development analyzing genotype–phenotype correlation two fetuses with syndrome.
To the Editor: Measurement of nuchal translucency (NT) is a validated marker for aneuploidy, fetal abnormalities, and other pathologic conditions,[1] which makes it crucial to ensure accuracy NT measurement in clinical treatment. Ever since 2012, all pregnant women visiting our hospital (The International Peace Maternity & Child Health Hospital Affiliated Shanghai Jiao Tong University School Medicine, China) need receive routine first-trimester sonographic assessment. However, what...
Abstract Background: Mitochondria have been shown to play vital roles during SARS-CoV-2 infection and COVID-19 development. Currently, whether mitochondrial DNA (mtDNA) variations, which define mtDNA haplogroups determine OXPHOS performance ROS production, are associated with risk is unclear. Methods: A population-based case-control study was conducted compare the distribution of variations defining between healthy controls (n = 615) patients 536). were diagnosed based on molecular...