[ ABSTRACT] AIM:To investigate the effect of astragaloside IV on neurological function and the protein expres -sion of neuron-specific enolase (NSE), Notch1 and NF-κB in acute cerebral hemorrhage (ACH) rats.METHODS:ACH model in rats was established via injection of autologous blood , and the rats were divided into 4 groups:sham, ACH, ACH+astragaloside IV (100 mg/kg) and ACH+astragaloside IV (200 mg/kg) groups.The impairment of neurological func-tion in each group was graded , and the brain coefficient and water content were calculated .The serum level of NSE was measured by ELISA.Additionally, the expression of Notch1 and NF-κB was determined by Western blot .RESULTS:As-tragaloside IV improved the neurological function and decreased the brain coefficient and water content in ACH rats .Moreo-ver, the ACH-induced increase in NSE was inhibited after astragaloside IV treatment .Similarly, astragaloside IV also sig-nificantly attenuated the expression of Notch 1 and NF-κB in ACH rats.CONCLUSION: Astragaloside IV attenuates the impairment of neurological function in ACH rats , which may be through decreasing the NSE level and down-regulating the expression of Notch1 and NF-κB.

AIM:To investigate the regulatory effects of phosphatylinositol 3-kinase/protein kinase B (PI3K/PKB) signaling pathway on the expression of osteopontin ( OPN) in transforming growth factor-β1 ( TGF-β1 )-induced hu-man hepatic stellate cells .METHODS:Human hepatic stellate cell line LX-2 was cultured in DMEM and stimulated by TGF-β1 at the final concentration of 2.5, 5, 10 and 20 μg/L for 24 h or at final concentration of 10 μg/L for 12 h, 24 h and 48 h.LX-2 cells were pretreated with wortmannin , a specific inhibitor of PI3K/PKB signaling pathway , at final con-centration of 0.1 μmol/L for 1 h, followed by incubation with TGF-β1 at final concentration of 10μg/L for 24 h.The cells were collected.The expression of OPN was detected by real-time PCR and Western blotting .RESULTS: In LX-2 cells, the expression of OPN was apparently elevated when incubated with TGF-β1 .With the increase in TGF-β1 concentration or the extension of incubation hours , the expression of OPN was increased gradually in a dose-and time-dependent manner with certain limits.LX-2 cells pretreated with wortmannin and incubated with TGF-β1 had a significant decrease in the OPN expression as compared with control group (P<0.01).CONCLUSION:The expression of OPN in TGF-β1-induced LX-2 cells is regulated by the PI3K/PKB signaling pathway.

OBJECTIVE: To explore the genetic basis for a Chinese pedigree with suspected mitochondrial functional defects through combined next-generation sequencing (NGS), copy number variation sequencing (CNV-seq), and mitochondrial DNA (mtDNA) sequencing. METHODS: Clinical data of the proband and his family members were collected. The patient and his parents were subjected to family-trio whole-exome sequencing (WES), CNV-seq and mtDNA variant detection. Candidate variant was verified by Sanger sequencing. RESULTS: Trio-WES revealed that the proband has carried compound heterozygous variants of the NDUFS1 gene, including a paternally derived c.64C>T (p.R22X) nonsense variant and a maternally derived c.845A>G (p.N282S) missense variant. Both variants may cause loss of protein function. No variant that may cause the phenotype was identified by CNV-seq and mtDNA variant analysis. CONCLUSION Children with suspected mitochondrial disorders may have no specific syndromes or laboratory findings. A comprehensive strategy including mtDNA testing may facilitate the diagnosis and early clinical interventions.
Child ; China ; DNA Copy Number Variations ; Electron Transport ; Humans ; Mutation ; NADH Dehydrogenase/genetics* ; Pedigree

OBJECTIVE: To analyze the clinical phenotype and genetic variant of a child with Snijders Blok-Campeau syndrome (SBCS). METHODS: A child who was diagnosed with SBCS in June 2017 at Henan Children's Hospital was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and the extraction of genomic DNA, which was subjected to trio-whole exome sequencing (trio-WES) and genome copy number variation (CNV) analysis. Candidate variant was verified by Sanger sequencing of his pedigree members. RESULTS: The main clinical manifestations of the child have included language delay, intellectual impairment and motor development delay, which were accompanied with facial dysmorphisms (broad forehead, inverted triangular face, sparse eyebrows, widely spaced eyes, narrow palpebral fissures, broad nose bridge, midface hypoplasia, thin upper lip, pointed jaw, low-set ears and posteriorly rotated ears). Trio-WES and Sanger sequencing revealed that the child has harbored a heterozygous splicing variant of the CHD3 gene, namely c.4073-2A>G, for which both of his parents were of wild-type. No pathogenic variant was identified by CNV testing. CONCLUSION The c.4073-2A>G splicing variant of the CHD3 gene probably underlay the SBCS in this patient.
DNA Copy Number Variations ; Heterozygote ; Pedigree ; Phenotype ; RNA Splicing ; Mutation

OBJECTIVE: To define the nature and origin of a chromosomal aberration in a child with unexplained growth and development retardation, and to analyze its genotype-phenotype correlation. METHODS: A child who had presented at the Affiliated Children's Hospital of Zhengzhou University on July 9, 2019 was selected as the study subject. Chromosomal karyotypes of the child and her parents were determined with routine G-banding analysis. Their genomic DNA was also analyzed with single nucleotide polymorphism array (SNP array). RESULTS: Karyotyping analysis combined with SNP array suggested that the chromosomal karyotype of the child was 46,XX,dup(7)(q34q36.3), whilst no karyotypic abnormality was found in either of her parents. SNP array has identified a de novo 20.6 Mb duplication at 7q34q36.3 [arr[hg19] 7q34q36.3(138335828_158923941)×3] in the child. CONCLUSION The partial trisomy 7q carried by the child was rated as a de novo pathogenic variant. SNP array can clarify the nature and origin of chromosomal aberrations. Analysis of the correlation between genotype and phenotype can facilitate the clinical diagnosis and genetic counseling.
Female ; Humans ; Trisomy/genetics* ; Phenotype ; Genotype ; Karyotyping ; Chromosome Banding