A5101733898- Genetics and Neurodevelopmental Disorders
- Infant Nutrition and Health
- Congenital Diaphragmatic Hernia Studies
- EEG and Brain-Computer Interfaces
- Autism Spectrum Disorder Research
- Neonatal Respiratory Health Research
- Metabolism and Genetic Disorders
- Congenital heart defects research
- Ubiquitin and proteasome pathways
- Blind Source Separation Techniques
- Studies on Chitinases and Chitosanases
- Pharmacogenetics and Drug Metabolism
- Peptidase Inhibition and Analysis
- Biochemical and Molecular Research
- Genomic variations and chromosomal abnormalities
- Epilepsy research and treatment
- Mitochondrial Function and Pathology
- Congenital Anomalies and Fetal Surgery
- Estrogen and related hormone effects
- Immune Cell Function and Interaction
- interferon and immune responses
- Microtubule and mitosis dynamics
- Teratomas and Epidermoid Cysts
- Ion Transport and Channel Regulation
- Hormonal Regulation and Hypertension
Children's Hospital
2024
Shandong University
2011-2024
Shandong Center for Disease Control and Prevention
2022-2024
Shandong Provincial Hospital
2024
Shandong First Medical University
2024
Qilu Hospital of Shandong University
2015-2022
Jinan Infectious Disease Hospital
2012-2015
Yeshiva of Greater Washington
2015
SARS-CoV-2 can be shed in the stool of patients recovery phase. Children show a longer shedding time than adults. We analyzed possible causes this finding and recommend that negative sample included patient's discharge criteria.
Background Studies have observed an association between the ABO blood group and risk of certain malignancies. However, no studies with hepatocellular carcinoma (HCC) are available. We conducted this hospital-based case-control study to examine HCC in patients chronic hepatitis B (CHB). Methods From January 2004 December 2008, a total 6275 consecutive eligible virus (HBV) infection were recruited. 1105 them HBV-related 5,170 CHB without HCC. Multivariate logistic regression models used...
Exonic deletions disrupting the autism susceptibility candidate 2 ( AUTS2 ) gene have been demonstrated as causal variants leading to neurodevelopmental disorders (NDDs) such spectrum disorder (ASD) and developmental delay (DD). Here, we report on 830 kb de novo deletion at chromosome 7q11.22 in a 4‐year‐old male patient with ASD DD. This disrupts promoter region exon 1 of , potentially complete haploinsuffiency gene. In addition, discuss clinical presentation light previous studies...
Transcatheter arterial chemoembolization (TACE) is the most widely used treatment option for unresectable hepatocellular carcinoma (HCC). Elevated serum YKL-40 level has been shown to predict poor prognosis in HCC patients undergoing resection. This study was designed validate prognostic significance of with TACE treatment.Serum determined by enzyme-linked immunosorbent assay. Overall survival (OS) evaluated Kaplan-Meier method and compared log-rank test. Multivariate Cox proportional hazard...
Abstract Background Congenital heart disease (CHD) is the most common type of birth defects. Genetic factors are important contributor to etiology CHD. However, underlying genetic causes in individuals remain unclear. Methods 101 with CHD and their unaffected parents were included this study. Chromosome microarray analysis (CMA) as a first-tier clinical diagnostic tool was applied for all affected individuals, followed by trio-based whole exome sequencing (WES). The function genes involved...
Phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta (PIK3CD) gene (OMIM#602839) encodes the p110δ subunit, mainly expressed in immune cells, and is associated with autosomal dominant immunodeficiency-14A lymphoproliferation (IMD14A, #615513). We generated a human iPS cell line from 50-month-old boy IMD14A carrying heterozygous mutation (c.3061G>A, p.E1021K) PIK3CD gene. This retains original site shows differentiation potential towards three germ layers vitro, which can...
Methylmalonic acidemia (MMA) is one of the most common hereditary organic acid metabolism disorders that endangers lives and health infants children. Early detection intervention before appearance a newborn's clinical symptoms can control disease progression prevent or mitigate its serious consequences.
This study was aimed to functionally characterize four novel CYP2D6 alleles identified in Chinese Han population.CYP2D6 proteins of wild-type and the variants along with CYP2D6.2 CYP2D6.10 were heterologously expressed yeast cells kinetic parameters determined.Compared CYP2D6.1 (frequency 24.65%), CYP2D6.X (1.63%), CYP2D6.Y (1.50%), CYP2D6.Z (0.81%), (52.53%) CYP2D6.75 (0.13%) exhibited low activity at different degrees, whereas (11.06%) much same CYP2D6.1. The allele showed decreased enzyme...
Abstract Objective. Electrical status epilepticus during slow sleep (ESES) is a phenomenon identified by strong activation of epileptiform activity in the electroencephalogram (EEG) sleep. For children disturbed ESES, spike-wave index (SWI) defined to quantify EEG Accurate SWI quantification important for clinical diagnosis and prognosis. To automatically, deep learning method proposed this paper. Approach. Firstly, pre-labeling algorithm (PreLA) composed adaptive wavelet enhanced...
Subcortical band heterotopia (SBH) is a rare brain developmental malformation caused by deficient neuronal migration during embryogenesis. Published literature on pediatric SBH cases DCX mutations limited.The detailed clinical and genetic features of two with were analyzed. The available was reviewed.Both patients girls varying degrees delay. Patient 1 short in stature peculiar facial features. 2 had an early seizure onset developed drug-resistant epilepsy. Whole-exome sequencing (WES)...
Lesch-Nyhan syndrome (LNS, MIM300322) is a rare inherited disorder caused by mutations in HPRT1 gene. Here we describe the generation of induced pluripotent stem cells (iPSCs) from an infected child carrying mutation c.508C > T(p.R170X) reprogramming peripheral blood mononuclear (PBMCs) with episomal vectors. The obtained hiPSCs exhibited normal karyotype, expressed pluripotency markers, and possessed trilineage differentiation capacity.
Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV, #615075), a rare autosomal dominant genetic caused by heterozygous mutation in the CTNNB1 gene, is characterized global developmental delay, impaired intellectual development, axial hypotonia, dysmorphic craniofacial features microcephaly. Here, we established an iPSC line (SDQLCHi055-A) from patient NEDSDV carrying heterozygote (c.854 T > A, p.L285*) gene. The has typical iPSCs characteristics, including...
Congenital disorder of glycosylation (CDG) is inherited metabolic disease caused by defects in the genes important for process protein and lipid glycosylation. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells a 6-month-old boy with congenital carrying heterozygous mutations c.1193 T > C (p.I398T) c.376_384dup CCGCAGCAC (p.P126_H128 dupPQH) MPI gene. This iPSC was free exogenous gene, expressed pluripotency markers, has normal karyotype,...
Abstract Objective. Electrical status epilepticus during slow sleep (ESES) is a phenomenon identified by strong activation of epileptiform activity in the electroencephalogram (EEG) sleep. For children disturbed ESES, spike-wave index (SWI) defined to quantify EEG Accurate SWI quantification important for clinical diagnosis and prognosis. To automatically, deep learning method proposed this paper. Approach. Firstly, pre-labeling algorithm (PreLA) composed adaptive wavelet enhanced...
Coffin-Siris syndrome 1 (CSS1) is a multiple malformation characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails toenails. Mutations in the ARID1B gene are most common cause of CSS1. Here, we generated an induced pluripotent stem cell line SDQLCHi045-A from one-year-old girl CSS1 caused heterozygous mutation (c.1924C>T, p.Q642X) (OMIM*135900). The established iPSC was validated pluripotency...
The pathogenic mutations of Synaptic Ras GTPase-activating protein 1 (SYNGAP1) gene (OMIM #603384) have been tightly associated with a neurodevelopmental disease, also called autosomal dominant mental retardation type 5 (MRD5, OMIM #612621). We generated human iPS cell line from 34-month-old young girl bearing recurrent heterozygous mutation (c.427C > T) SYNGAP1. This has great performance in pluripotency and shows differentiation potential towards three germ layers vitro.
Necrotizing enterocolitis (NEC) is a disastrous gastrointestinal disease of newborns, and the mortality rate infants with NEC approximately 20%-30%. The exploration pathogenic targets will be conducive to timely diagnosis NEC.The whole transcriptome RNA sequencing was performed on samples reveal expression lncRNAs, circRNAs, miRNAs mRNAs. Using differential analysis, cross target prediction, enrichment ceRNA network found.Preliminarily, 281 DEmRNAs, 21 DEmiRNAs, 253 DElncRNAs 207 DEcircRNAs...