Objective To investigate the value of serological screening combined with fetal aneuploidy prenatal noninvasive DNA test ( NIPT) in prenatal diagnosis ,and provide guidance for reducing the birth of children with genetic defects in the future .Methods A retrospective analysis was conducted in 15282 pregnant women with prenatal counseling who performed serological screening and NIPT test .The high risk and critical TANG recommended NIPT test and severe abnormal karyotype children recommend termination of pregnancy .Results Down syndrome screening results showed that 804 cases of 15,282 cases of serological screening samples were detected in high risk , the high risk rate was 5.26％.A total of 804 patients with high risk of Don screen were further tested with noninvasive DNA,which was positive in 10 cases.Among them,8 cases were confirmed by amniocentesis ,including 5 cases of trisomy 21,1 case of trisomy 18 and 2 cases of sex chromosome abnormality (45,XO in one case and 47,XYY in one case),the consistency was 100.00％.Conclusion Noninvasive gene detection of fetal aneuploidy has the advantages of noninvasive ,safe and accurate .It has a wide range of clinical value in the diagnosis of fetal chromosomal abnormalities .

Objective To establish a UPLC-QQQ-MS/MS (ultra-high performance liquid chromatography triple quadrupole tandem mass Spectrometry) method for simultaneous detemination of 8 terpenoids compounds in Tripterygium wilfordii suspension cells. Methods The separation and analysis were performed on Water HSS T3 C18, with 0. 1％ acetic acid solution-acetonitrile as the mobile phase for gradient elution. The column temperature was set at 30 ℃ with flow rate was 0.3 ml/min. The electrospray ionization (ESI) source was applied and operated in alternating positive and negative mode. Multi-reaction monitor (MRM) mode was used to quantify the 8 compounds. Results The limits of detection and limits of quantitation in 8 compounds (triptolide, triptonide, dehydroabietlc acid, triptophenolide, demethylzeylasteral, tripteridine, pristimerin, celastrol) were 0.0096-0.2480 ng and 0.0192-0.4960 ng, respectively. The correlation coefficents (r) of calibration curves were 0.9966-0.9993. The average recovery rates were 95.04％-105.20％, and the relative standard deviation was 2.14％-6.31％. Conclusions The established quantitative method is simple, rapid, sensitive and accuracy. It can be used for simultaneous analysis of 8 terpenoids compounds in Tripterygium wilfordii suspension cells by using UPLC-QQQ-MS/MS, which affords methodology evidence for research and quality control of Triptervgium wilfordii Hook. f. and its plant tissue cultures.

Genomic instability remains an enabling feature of cancer and promotes malignant transformation. Alterations of DNA damage response (DDR) pathways allow genomic instability, generate neoantigens, upregulate the expression of programmed death ligand 1 (PD-L1) and interact with signaling such as cyclic GMP-AMP synthase-stimulator of interferon genes (cGAS-STING) signaling. Here, we review the basic knowledge of DDR pathways, mechanisms of genomic instability induced by DDR alterations, impacts of DDR alterations on immune system, and the potential applications of DDR alterations as biomarkers and therapeutic targets in cancer immunotherapy.

Humans ; Aminoquinolines/therapeutic use* ; Carcinoma, Non-Small-Cell Lung/genetics* ; Lung Neoplasms/genetics* ; Mutation/genetics* ; Standard of Care