Objective:To explore the promoted role of calcium-sensing receptor (CaSR) overexpression in proliferation and differentiation of immature white matter progenitor cells after ischemia in vitro. Methods:Periventricular white matter cells from 5-d-old rats were cultured in vitro and divided into control group, oxygen-glucose deprivation (OGD) group, OGD+gadolinium chloride (GdCl 3) group, and OGD+ CaSR silenced group. CaSR expression was agitated by GdCl 3, and CaSR gene expression was inhibited by gene silencing. CaSR mRNA levels 24, 48 and 72 h, and 7 and 14 d after OGD were detected by real-time fluorescence quantification-PCR (RT-qPCR); cell proliferation 48 h after OGD was detected by inverted microscope, and cell differentiation 24, 48, and 72 h, and 7 and 14 d was detected by double immunofluorescence staining. Results:(1) CaSR mRNA expressions: CaSR mRNA expressions in OGD group 48 and 72 h and 7 d after OGD were statistically higher than those in control group ( P<0.05). Forty-eight and 72 h, and 7 and 14 d after OGD, CaSR mRNA expressions in OGD+GDCL 3 group were statistically higher than those in control group and OGD group ( P<0.05); the CaSR mRNA expressions in the OGD+CaSR silenced group were significantly lower than those in the control group ( P<0.05). (2) Cell proliferation and differentiation: 48 h after OGD, the cell sphere diameter of OGD group ([75.26±26.07] μm) was significantly increased as compared with that of control group ([57.96±18.92] μm, P<0.05); the cell sphere diameter of OGD+GdCl 3 group ([91.92±21.82] μm) was significantly increased as compared with that of control group and OGD group ( P<0.05); and the cell sphere diameter of OGD+ CaSR silenced group ([24.09±8.34] μm) was significantly shorter than that of control group and OGD group ( P<0.05). At 48 and 72 h after OGD, the number of O4 +/CaSR + olidoendrocyte precursor cells (OPCs) in OGD group was significantly larger than that in control group, that in OGD+GdCl 3 group was significantly larger than that in control group and OGD group, and that in OGD+ CaSR silenced group was significantly smaller than that in control group and OGD group ( P<0.05). Conclusion:CaSR overexpression could promote the proliferation and differentiation of progenitor cells to OPCs.

Objective:To identify the clinical phenotypes, diagnosis, and treatment of five children with DiGeorge syndrome finally diagnosed by gene, with review of the literature.Methods:The clinical data of five children with DiGeorge syndrome admitted to our hospital were collected and sorted out. Copy number variation sequencing (CNV-seq) based on next generation sequencing (NGS) technology was used to diagnose the genetic etiology of the children. The relationship between phenotypes and genotype among these five children were emphatically compared.Results:The five children collected in this study were all younger than 6 months. The course of the disease was more than 2 months to 1 year. Most of the first symptoms were convulsions and/or repeated infection. All of them had different degrees of growth retardation, with or without special facial features, epilepsy, congenital heart disease, etc. The similar blood ionized calcium levels revealed hypocalcemia, but the frequency and severity of convulsions were different. The copy number variation of chromosome 22q11.21 was detected in all these five children, and the deletion fragment was between 2.56-2.6 Mb, which was mostly coincident with the classical deletion region of DiGeorge syndrome (chr22: 19009792-21452445) recorded in Decipher database. One case was suggested to be a novel mutation, and the rest were of unknown origin.Conclusions:DiGeorge syndrome has great clinical heterogeneity. CNV-seq based on NGS technology is not only conducive to accurate genetic etiological diagnosis, but also helpful for understanding the corresponding relationship between clinical phenotype and genotype of hereditary syndrome, improving clinicians′ understanding and avoiding misdiagnosis.

Objective:To explore the correlation between the index of hemodynamics in perinatal period and retinopathy of prematurity(ROP), so as to provide basis for the better prevention and treatment of ROP.Methods:From May 2017 to April 2019, the preterm infants were admitted to the Neonatal Intensive Care Unit of the First Affiliated Hospital of Zhengzhou University at birth and were hospitalized for more than 2 weeks, gestational age ≤ 35 weeks and birth weight ≤ 2 500 g. They were selected as the study objects.The perinatal data including heart rate, blood pressure, patent ductus arteriosus, ventricular septal defect, and NT-proBNP level on the 1 st, 7 th and 14 th day, respectively after birth were collected.They were divided into ROP group and non ROP group according to the results of the retinopathy screening report.The influencing factors of ROP were screened out by univariate analysis and multivariate regression analysis. Results:A total of 1 119 subjects were included, 105 infants with ROP were detected, and the prevalence of ROP was 9.4%.Among them, 12 cases of pre-threshold lesion type 1 and threshold lesions required treatment, accoun-ting for 1.07% of screened preterm infants .Univariate analysis and multivariate regression analysis revealed that gestational age, birth weight, total oxygen therapy time, and intrauterine growth restriction were all factors affecting ROP, and 2 hemodynamic related indicators, such as the level of NT-proBNP in plasma on the 14 th day after birth, and placenta previa or abruption were also related to ROP( OR=0.604, 0.647, 1.276, 2.361, 1.688 and 2.506, respectively, all P<0.05). Conclusion:The hemodynamic changes in perinatal period may be involved in the formation of ROP, and it is necessary to further clarify its mechanism.