Publications by authors named "Lijian Zhao"

The China Prospective Multi-Center Birth Cohort Study was launched in 2022. In collaboration with medical centers in 12 cities, it aims to establish a high-quality, multidimensional cohort comprising 20,000 natural pregnancy and assisted reproductive families. As of June 26, 2024, 12,911 pregnant women have participated in this study, and 161,122 biological samples have been collected.

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Objective: The study aims to present an observational study of clinical trials on Oral Potentially Malignant Disorders (OPMDs) and corresponding publications.

Study Design And Setting: We searched the OPMDs-related clinical studies registered in the ClinicalTrials.gov database before March 1, 2024.

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  • Genetic factors play a major role in the concentration of metabolites in adults, but their influence on neonates is still unclear.
  • To address this, researchers used genotype imputation on low-pass genome data from non-invasive prenatal testing and studied metabolic components in neonates.
  • The study discovered 19 known and 11 new genetic associations with metabolic components and found that the average heritability of these metabolites is around 76.2%.
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  • Metabolites are crucial for monitoring health and therapeutic targets, yet their genetic influences during pregnancy remain largely unexplored.
  • A genome-wide association study was conducted using genetic data from 34,394 pregnant Chinese women, identifying 53 metabolite-gene associations, with 23 being new findings.
  • The research uncovered significant gene-environment interactions during pregnancy, with half of the associations showing pleiotropy and potential causal links between maternal metabolites and various human traits and diseases.
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Genome-wide association studies have identified over 200 genetic loci associated with inflammatory bowel disease; however, the mechanism of such a large amount of susceptibility genes remains uncertain. In this study, we integrated bioinformatics analysis and two independent single-cell transcriptome datasets to investigate the expression network of 232 susceptibility genes in Crohn's disease (CD) patients and healthy controls. The study revealed that most of the susceptibility genes are specifically and strictly expressed in the monocytes of the human intestinal tract.

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  • - Preeclampsia (PE) is a serious pregnancy complication characterized by high blood pressure and protein in urine after 20 weeks of gestation, and the study aimed to validate the use of maternal plasma cell-free DNA (cfDNA) profiles alongside clinical risk factors to predict early and late-onset PE.
  • - The research involved analyzing NIPT data from 2,727 pregnant women in China, categorizing samples into 143 early-onset, 580 late-onset PE cases, and 2,004 healthy controls to identify predictive markers using statistical methods and machine learning.
  • - The findings revealed that distinct patterns in cfDNA coverages, along with maternal health information, could effectively predict the risk of PE
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Key Clinical Message: CHARGE syndrome is a rare genetic disorder characterized by several distinct features. The presence of fetal ear abnormalities could be the early indicator of CHARGE syndrome. Subsequent prenatal diagnosis is essential to confirm the disorder.

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Unlabelled: Fecal DNA test has emerged as a non-invasive alternative for colorectal cancer (CRC) screening in average-risk population. However, there is currently insufficient evidence in China to demonstrate the effectiveness of population-based CRC screening using fecal DNA based test. Here, a large-scale real-world study for CRC screening was implemented in Wuhan, Hubei province, China.

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Analysis of short tandem repeats (STRs) is a global standard method for human identification. Insertion/Deletion polymorphisms (DIPs) can be used for biogeographical ancestry inference. Current DNA typing involves a trained forensic worker operating several specialized instruments in a controlled laboratory environment, which takes 6-8 h.

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Auditory neuropathy (AN) is a unique type of language developmental disorder, with no precise rate of genetic contribution that has been deciphered in a large cohort. In a retrospective cohort of 311 patients with AN, pathogenic and likely pathogenic variants of 23 genes were identified in 98 patients (31.5% in 311 patients), and 14 genes were mutated in two or more patients.

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Background: Potential differences in complications and/or long-term outcomes of perimembranous ventricular septal defect (pmVSD) closures with 3-mm waist vs. 4-mm waist double-disk symmetrical occluders are not known.

Methods And Results: A total of 395 consecutive pediatric patients with pmVSD recruited between January 2017 and March 2021 underwent successful transcatheter closure using symmetrical pmVSD devices.

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Gestational diabetes mellitus (GDM) is a common complication of pregnancy, which has significant adverse effects on both the mother and fetus. The incidence of GDM is increasing globally, and early diagnosis is critical for timely treatment and reducing the risk of poor pregnancy outcomes. GDM is usually diagnosed and detected after 24 weeks of gestation, while complications due to GDM can occur much earlier.

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Currently, the mechanism(s) underlying corticogenesis is still under characterization. We curated the most comprehensive single-cell RNA-seq (scRNA-seq) datasets from mouse and human fetal cortexes for data analysis and confirmed the findings with co-immunostaining experiments. By analyzing the developmental trajectories with scRNA-seq datasets in mice, we identified a specific developmental sub-path contributed by a cell-population expressing both deep- and upper-layer neurons (DLNs and ULNs) specific markers, which occurred on E13.

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Birth defect is a global threat to the public health systems. Mitigating neonatal anomalies is hampered by elusive molecular mechanisms of pathogenic mutations and poor subsequent translation into preventative measures. Applying appropriate strategies in China to promote reproductive health is particularly challenging, as the Chinese population compromises complex genomic diversity due to the inclusion of many ethnic groups with distinct genetic backgrounds.

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Background: Preeclampsia, especially preterm preeclampsia and early-onset preeclampsia, is a life-threating pregnancy disorder, and the heterogeneity and complexity of preeclampsia make it difficult to predict risk and to develop treatments. Plasma cell-free RNA carries unique information from human tissue and may be useful for noninvasive monitoring of maternal, placental, and fetal dynamics during pregnancy.

Objective: This study aimed to investigate various RNA biotypes associated with preeclampsia in plasma and to develop classifiers to predict preterm preeclampsia and early-onset preeclampsia before diagnosis.

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The ongoing development of high-throughput sequencing technology and continuous decline of sequencing cost have made it possible to carry out large-scale screening for genetic diseases, which are the main component of birth defects. The screening of genetic diseases is expected to significantly reduce the rate of birth defects and the burden of genetic diseases to the affected families and the society. Taking Down syndrome as an example, through the analysis of the cost-benefit ratio of relevant screening programs, this article has summarized the socio-economic indicators to be considered during the design and development of genetic disease screening.

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Objectives: Genetic screening can benefit early detection and intervention for hearing loss. The frequency of common deafness-associated variants in general populations is highly important for genetic screening and genetic counseling tailored to different ethnic backgrounds. We aimed to analyze the frequency of common deafness-associated variants in a large population-based Chinese newborn cohort and to explore the population-specific features in diverse populations worldwide.

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Non-invasive prenatal diagnosis (NIPD) can identify monogenic diseases early during pregnancy with negligible risk to fetus or mother, but the haplotyping methods involved sometimes cannot infer parental inheritance at heterozygous maternal or paternal loci or at loci for which haplotype or genome phasing data are missing. This study was performed to establish a method that can effectively recover the whole fetal genome using maternal plasma cell-free DNA (cfDNA) and parental genomic DNA sequencing data, and validate the method's effectiveness in noninvasively detecting single nucleotide variations (SNVs), insertions and deletions (indels). A Bayesian model was developed to determine fetal genotypes using the plasma cfDNA and parental genomic DNA from five couples of healthy pregnancy.

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Aim: We sought to identify the clinical characteristics and risk factors for cardiac mortality in pediatric patients with primary dilated cardiomyopathy (DCM) in China.

Methods: A total of 138 pediatric patients who were consecutively diagnosed with primary DCM from January 2011 to December 2020 were included. We assessed patients' clinical symptoms and performed laboratory examinations, electrocardiography, and echocardiography.

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Neoantigens are mutated antigens specifically generated by cancer cells but absent in normal cells. With high specificity and immunogenicity, neoantigens are considered as an ideal target for immunotherapy. This study was aimed to investigate the signature of neoantigens in breast cancer.

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Aims: To investigate the electrocardiographic (ECG) characteristics and catheter ablation of ventricular arrhythmias (VAs) originating from the moderator band (MB) in children.

Methods: A total of six children who had VAs originating from the MB-as confirmed by electrophysiological study-and who underwent catheter ablation between January 2016 and December 2020 were retrospectively reviewed. During the procedure, a three-dimensional electroanatomic mapping system was used to facilitate three-dimensional anatomical reconstruction, mapping and ablation.

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Aptamers are single stranded oligonucleotides with specific recognition and binding ability to target molecules, which can be obtained by Systematic Evolution of Ligands by Exponential Enrichment (SELEX). Aptamers have the advantages of low molecular weight, low immunogenicity, easy modification and high stability. They play promising role in promoting food safety, monitoring the environment and basic research, especially in clinical diagnosis and therapeutic drugs.

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Dilated cardiomyopathy (DCM) is a myocardial disease characterized by bilateral or left ventricular cardiac dilation and systolic dysfunction that can lead to heart failure and sudden cardiac death in children. Many studies have focused on genetic variation in DCM-related genes in adult populations; however, the mutational landscape in pediatric DCM patients remains undetermined, especially in the Chinese population. We applied next-generation sequencing (NGS) technology to genetically analyze 46 pediatric DCM patients to reveal genotype-phenotype correlations.

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The process of strengthening an expanded granular sludge blanket (EGSB) reactor under ammonia nitrogen stress conditions and by adopting three strengthening measures, namely, opening the circulation (OC), adding modified biochar (MB), adding modified biochar along with opening the circulation (MBOC), to treat food waste was studied. When the ammonia nitrogen concentration of influent increased to 1200 mg/L, the removal rate of COD reduced to about 75%, while the removal rate of ammonia nitrogen was about 6%. The average COD removal rate of the anaerobic reactor in the last 5 days of each operating cycle i.

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The aim of this study was to assess the efficacy and safety of transcatheter retrograde closure of perimembranous ventricular septal defect (pmVSD) via the femoral artery with an Amplatzer Duct Occluder II (ADO II) in children. The clinical and follow-up data of 102 children who had successfully undergone transcatheter retrograde closure of pmVSD via the femoral artery with Amplatzer Duct Occluder II (ADO II) from February 2012 to June 2019 in our center were retrospectively reviewed. In 102 of 103 patients, the defects were successfully closed (99.

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