A5031283260- Prenatal Screening and Diagnostics
- Fetal and Pediatric Neurological Disorders
- Immunodeficiency and Autoimmune Disorders
- Genomic variations and chromosomal abnormalities
- Chronic Lymphocytic Leukemia Research
- Neurogenetic and Muscular Disorders Research
- Bacteriophages and microbial interactions
- Sexual Differentiation and Disorders
- RNA modifications and cancer
- Blood groups and transfusion
- Parvovirus B19 Infection Studies
- Biomedical Research and Pathophysiology
- Cholangiocarcinoma and Gallbladder Cancer Studies
- SARS-CoV-2 and COVID-19 Research
- Pediatric Hepatobiliary Diseases and Treatments
- Cardiomyopathy and Myosin Studies
- RNA Research and Splicing
- Cleft Lip and Palate Research
- Craniofacial Disorders and Treatments
- Urological Disorders and Treatments
- Genetic and Kidney Cyst Diseases
- Congenital Anomalies and Fetal Surgery
- Hormonal and reproductive studies
- Muscle Physiology and Disorders
- Congenital Diaphragmatic Hernia Studies
Henan Academy of Sciences
2025
First Affiliated Hospital of Zhengzhou University
2019-2025
Shandong Provincial QianFoShan Hospital
2025
Shandong First Medical University
2025
Background The gut microbiome and diet are important factors in the pathogenesis management of Crohn’s disease (CD). However, role phageome under dietary influences is unknown. Objective We aim to explore effect on phageome-bacteriome interaction linking CD protection. Design recruited patients healthy subjects (n=140) conducted a multiomics investigation, including paired ileal mucosa bacteriome profiling, survey phenome interrogation. screened for bacteriome, as well its epidemiological...
Abstract Objective Spinal muscular atrophy (SMA) is a motor neuron disorder encompassing 5q and non-5q forms, causing muscle weakness due to spinal cord cell degeneration. Understanding its genetic basis crucial for counseling personalized treatment options. Methods This study retrospectively analyzed families of patients suspected SMA at our institution from February 2006 March 2024. Various molecular techniques, including multiplex ligation-dependent probe amplification analysis,...
Abstract Spinal muscular atrophy (SMA) is an autosomal recessive disease with a high carrier frequency. While current screening methods can identify 1+0 carriers, detecting 2+0 genotypes remains challenging, highlighting the need for additional research. Herein, we applied Digital Polymerase Chain Reaction (dPCR) to develop novel approach detection of male carriers (DMC), especially those genotype. The clinical utility DMC was evaluated in 39 semen samples. Multiple ligation‐dependent probe...
Chromosome 18p deletion syndrome is a disease caused by the complete or partial of short arm chromosome 18, there were few cases reported about prenatal diagnosis syndrome. Noninvasive testing (NIPT) widely used in screening common fetal aneuploidy. However, segmental deletions and duplications should also be concerned. Except that some had increased nuchal translucency holoprosencephaly, most phenotype may not evident during pregnancy, was always accidentally discovered examination.In our...
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has rapidly spread and poses a major threat to public health worldwide. The whole genome sequencing plays crucial role in virus surveillance evolutionary analysis. In this study, five sequences of SARS-CoV-2 were obtained from nasopharyngeal swab samples Zhengzhou, China. Following RNA extraction cDNA synthesis, multiplex PCR was performed with two primer pools produce the overlapped amplicons ~1,200 bp. viral genomes 96% coverage...
The molecular mutations of the L1CAM gene and imaging appearances four fetuses with L1 syndrome from three independent Chinese families a history hydrocephalus were reported in this study. Two are novel variants.Results clinical examinations collected. Fetal samples collected by puncture, genomic DNA was extracted, whole-exome sequencing performed, mutation sites verified PCR Sanger sequencing.In case report, we described appearance investigated syndrome; these included two nonsense...
Abstract Background X-linked agammaglobulinaemia (XLA) is a rare immunodeficiency disease for which recurrent severe infection the major clinical symptom. BTK main causative gene, with X chromosome recessive inheritance. However, mutations reported to date do not fully explain disorder. Methods We detected percentage of CD19+ B cells and serum immunoglobulin (IgG, IgA, IgM) levels by flow cytometry rate scatter immunoturbidimetry, investigated mutation profile in 22 XLA patients using Sanger...
<title>Abstract</title> Objective Spinal muscular atrophy (SMA) is a motor neuron disorder encompassing both 5q and non-5q forms, causing muscle weakness due to spinal cord cell degeneration. Understanding its genetic basis crucial for counseling personalized treatment options. Methods This study analyzed families of patients with suspected SMA at our institution from February 2006 March 2024. Various molecular techniques, including multiplex ligation-dependent probe amplification (MLPA)...
To explore cytogenetic characteristics and fertility of carriers complex chromosome rearrangements (CCR) from Henan region.G-banded karyotyping analysis was carried out on peripheral blood lymphocytes derived 160 601 patients with reproductive abnormalities. Relevant literature retrieved domestic overseas databases. Cytogenetic clinical data CCR were analyzed.Twenty-seven identified among the patients. In addition, 6 cases database research. Among 33 carriers, there 17 three- four-way...
Abstract Background: X-linked agammaglobulinaemia (XLA) is a rare immunodeficiency disease, and the main clinical symptoms recurrent severe infections. BTK disease-causing gene, genetic mode X chromosome recessive inheritance. But current mutations do not fully explain this disorder. Methods: We detected percentage of CD19+ B cells serum immunoglobulin (IgG, IgA, IgM) levels by Flow cytometer rate scatter immunoturbidimetry, investigated mutation profile gene through Sanger sequencing Real-...
Objective To explore whether it is necessary to choose NIPT-plus for the prenatal screening of pregnant women. Methods The results NIPT and sequencing data, fetal DNA concentration, diagnosis pregnancy outcome 50 women were compared. Results Compared with NIPT, attained similar concentration a 4.4-fold increase in data. was able detect 4 cases 21-trisomy, 2 18-trisomy, 9 sex chromosome aneuploidies (SCAs) signaled by NIPT-plus, but missed one failed rare (RCAs) microdeletion/microduplication...
2例主诉为"语言障碍，智力发育迟缓"的患儿就诊于遗传与产前诊断中心，结合患儿的特殊面容、临床表现、影像学检查及分子遗传学结果，诊断为小脑发育不全。2例患儿分别存在RELN基因c.3712A>C（p.Asn1238His）和c.8051G>A（p.Arg2684His）复合杂合变异；c.3712A>C（p.Asn1238His）和c.6553A>T（p.Met2185Leu）复合杂合变异。.
Abstract Background: X-linked agammaglobulinaemia (XLA) is a rare immunodeficiency disease for which recurrent severe infection the major clinical symptom. BTK main causative gene, with X chromosome recessive inheritance. However, mutations reported to date do not fully explain disorder.Methods: We detected percentage of CD19+ B cells and serum immunoglobulin (IgG, IgA, IgM) levels by flow cytometry rate scatter immunoturbidimetry, investigated mutation profile in 22 XLA patients using...
To assess the value of re-sampling for patients who had failed non-invasive prenatal testing (NIPT) due to low cell-free fetal DNA (cffDNA) fraction.Clinical data 20 387 undergoing NIPT test was reviewed. The were re-sampled when initial blood did not yield a result cffDNA fraction. results analyzed, and outcome pregnancy followed up.Among all samples, 17 (0.08%) fraction, which accepted re-sampling. A attained in 16 cases, with success rate 94.12%. Only one sample re-test.For should be...
To report on the diagnosis and treatment process clinical characteristics of a child with disorder sex development (DSD) to conduct pathological, imaging genetic analysis for patient.Clinical data patient were collected. Genetic testing including chromosomal karyotyping, fluorescence in situ hybridization (FISH), copy number variations (CNVs) analysis, SRY gene detection multiple ligation-dependent probe amplification (MLPA) carried out.The had social gender male, history hypospadia breast...
To explore the clinical characteristics and molecular pathogenesis of a child with autosomal dominant polycystic kidney disease (ARPKD).Prenatal ultrasound, feature family history were analyzed. Whole exome sequencing was carried out for child. Candidate variants verified by Sanger sequencing.The has featured premature birth very low weight, neonatal respiratory distress, metabolic acidosis, congenital nephrotic syndrome. Gene revealed that he harbored compound heterozygous PKHD1 gene...
OBJECTIVE To explore the genetic basis for a neonate with Pierre-Robin sequence. METHODS The child was subjected to chromosomal karyotyping, single nucleotide polymorphism array (SNP-array)-based comparative genomic hybridization and fluorescence in situ (FISH) analysis. RESULTS has featured microgthnia, glossoptosis, upper airway obstruction, mandible dehiscence short neck. He found have karyotype of 46,XY,der(4)add(4)(q34). Her mother's determined as 46,XX,t(1;4)(q43;q34), while his father...
Objective To assess the value of non-invasive prenatal testing (NIPT) for detection fetal chromosomal aneuploidies in women with twin pregnancy. Methods A total 2473 pregnancy underwent NIPT test to risk from January 2016 September 2019. Those a high by were confirmed amniocentesis or chorionic villus sampling. All cases followed up evaluate positive prediction pregnancies. Results Among women, has identified 31 (1.25%) aneuploidies, which included 5 trisomy 21, 1 case chromosome 21...
To explore the clinical effect of expanded non-invasive prenatal testing (NIPT-plus) for screening.The screening result, diagnosis and pregnancy outcome 3700 pregnant women who volunteered NIPT-plus at our center from September 2018 to December 2019 were reviewed.Among women, 74(2.0%) scored positive clinically significant fetal chromosomal abnormalities underwent screening. Sixty three with a high risk invasive diagnosis, among whom 19 diagnosed, which yielded predictive value (PPVs) 30.2%...