OBJECTIVE: To assess the value of copy number variation analysis based on next generation sequencing (CNV-seq) in prenatal diagnosis for women at advanced maternal age. METHODS: A prospective analysis was carried out for women who underwent amniocentesis at 18~36 weeks of gestation for fetal CNV-seq for advanced maternal age. RESULTS: For 1461 unrelated Chinese women with a singleton pregnancy, CNV-seq was performed for all samples successfully. The proportion of chromosomal abnormalities was 2.3% (34/1461), of which 44.12% were submicroscopic copy number variations (<5 Mb). CONCLUSION Pregnant women at an advanced maternal age should be informed for not only common trisomies but all pathogenic chromosomal aberrations. NGS was a sensitive and accurate approach for detecting CNVs.
Chromosome Aberrations ; Chromosome Disorders ; DNA Copy Number Variations ; Female ; Humans ; Maternal Age ; Pregnancy ; Prenatal Diagnosis ; Prospective Studies

Some problems are arisen in teaching diagnostic pathology in our college for postgradu-ates of Pathology and Pathophysiology, the students' basic knowledge is weak, the cycle is short, the teaching team and resources are relatively insufficient. To promote the cultivation of graduate students, we should carry out the CBL teaching method, add the clinical practice and training, strengthen the teaching staff, and apply digital section and network platform.

Objective To investigate the molecular mechanism of P75NTR gene-induced apoptosis in tongue squamous cell carcinoma Tca8113 cell lineage.Methods P75NTR specific siRNA was transferred into P75NTR positive tongue squamous cell carcinoma Tca8113 cells.P75NTR positive Tca8113 cells were divided into 4 groups:blank group (without transfection),negative control group (transfected with negative control siRNA ), experiment group-776 (transfected with siRNA-P75NTR-776 ) and experiment group-1234 (transfected with siRNA-P75NTR-1234).Transfection efficiency and cell apoptosis were detected by flow cytometry.The interference effect of P75NTR mRNA expression was detected by fluorescence quantitative PCR. 3-(4,5-dimethyl-2-thiazoly)-2,5-diphenyl-2H-tetrazolium bromide assay was applied in measuring cell prolife-ration.The protein changes of P75NTR were detected by Western blotting.The distributions of nuclear factor-κB(NF-κB)of cells were observed by cell immunofluorescence labeling method.Results The transfection efficiency was 30%.The apoptosis rate of experiment group-776,experiment group-1234 and negative control group was (20.35 ±0.18)%,(12.32 ±1.51)% and (2.63 ±0.10)% respectively.Compared with the negative control group,the differences of the former two group had statistical significance (t =177.20,P <0.005;t =37.12,P <0.005).The P75NTR gene interference was successful.The inhibition rate of P75NTR protein reached 31% in experiment group-776.The cell viability of Tca8113 cells after P75NTR-siRNA inter-
ference was 70.02%,78.01% and 95.81% in experiment group-776,experiment group-1234 and negative control group.And there were significant differences between experiment group-776 and negative control group (χ2 =235.3,P <0.010),and between experiment group-1234 and negative control group (χ2 =117.5,P <0.005 ).NF-κB distribution was increased in cell cytoplasm in the interference group than that in control group.Conclusion P75NTR may promote the proliferation or inhibit the apoptosis of tongue squamous cell carcino-ma,and the molecular mechanism may be correlated with hindering the transportion of NF-κB into cell nuclear.

OBJECTIVETo study the biological characteristics of p75 neurotrophin receptor positive (p75(NTR+)) tongue squamous cell carcinoma cells which were separated by flow cytometry cell sorting.

METHODSTo determine the biological characteristics of p75(NTR+) cells which were separated from Tca-8113 and Cal-27 tongue squamous cell carcinoma cells by flow cytometry cell sorting, including study the capacity of cloning, 3-(4,5)-demethylthiazo(z-y1)-3,5-diphenytetrazoliumromide (MTT) assay, wound healing assay. p75(NTR+) cells with non-sorted cells were as control group.

RESULTSIn Tca-8113 and Cal-27 tongue squamous cell carcinoma cell lines, the percentage of p75(NTR+) cells were 3.1% and 1.9%. Compared with p75(NTR+) cells with non-sorted cells, p75(NTR+) cells possess higher capacity of cloning (Tca-8113, P=0.024; Cal-27, P=0.009). The percentage of p75(NTR+) cells of the progeny cells generated from monoclonal p75(NTR+) cells decreased to 14.5% (Tca-8113) and 5.8% (Cal-27) after cultured two weeks. p75(NTR+) cells possessed higher proliferation ability and higher metastasis ability than non-sorted cells.

CONCLUSIONp75(NTR+) cells isolated from tongue squamous cell carcinoma have the characteristics of cancer stem cells.

Carcinoma, Squamous Cell ; Humans ; Neoplasms ; Nerve Tissue Proteins ; Receptors, Nerve Growth Factor ; Tongue Neoplasms

Objective To investigate the significance of renal tubular dysfunction in patients with refractoriness nephrotic syndrome(RNS)and the effect of interference treatment of Valsartan (VAL).Methods 79 cases of RNS and 68 healthy controls were recruited into the study. The 79 patients of RNS were divided randomly into the VAL group and the dipyridam group. On the basis of routine therapy, the VAL group was given VAL(80mg/d),and the dipyridam group taken dipyridam (150mg/d)orally for 12 weeks The glomerular tubular function(u-RBP,α1-MG,β2-MG,mAlb,NAG)were detected and the pathologic changes of tubukinterstitium were observed by using the methods of ELISA, biochemistry and scoring of the pathologic damage of tubulointerstitium before and after 12 weeks of VAL treatment in all of the cases. Results Urinary RBP,α1-MG,β2-MG,mAlb and NAG in all patients with RNS was evidently higher than that in healthy controls(P＜0.01).Those had positive correlations with damages of tubulointerstitium(r=0.436,0.626,0.499,0.668,0.657,P＜0.01).The interference outcome displayed that the excretion rates of urinary series of protein after oral use VAL in treatment group were markedly lower, while the control group had no distinct change. Conclusion There were various injury of tubulointerstitium and the disfiguration of renal tubular function in all cases with RNS. Damages of renal tubular function had positive correlation with tubulointemtitium injury and renal globular injury. Interference treatment with ARB in patients with RNS could improve renal tubular function, which is of great significance in delaying the progress of RNS.