1.Research progress on VEGF and its related signaling pathway in ischemic brain injury and intervention of Traditional Chinese Medicine
Tianhong ZHAO ; Shihan GENG ; Simiao FAN ; Yanjun ZHANG
Drug Evaluation Research 2017;40(6):874-879
The common complication of ischemic brain injury was ischemic brain edema,which was closely related to the function of the blood-brain barrier (BBB).In vitro studies,which have shown that vascular endothelial growth factor (VEGF) could bind to the receptor to activate a variety of cell signaling pathways,by inhibiting cell apoptosis,reduce oxidative stress and play a protective role in the brain.Fulong Antithrombotic Pill,Shenfu Injection,Naotaitong Granule and others traditional Chinese medicine can regulate the treatment of BBB injury by VEGF regulation.This article reviewde the study progress of VEGF and its related pathways in ischemic brain injury,and the treatment of BBB injury by Chinese medicine by interventional VEGF and its related pathways,which provide a theoretical basis for the clinical treatment of cerebral ischemic abnormalities and the development of new drugs.
2.Gene screening of neonatal non-syndromic hereditary hearing loss in Guangxi
Ting QUE ; Wang LI ; Guoxing GENG ; Shihan FENG ; Jinwu YU ; Chao LUO ; Caijuan LIN
Chongqing Medicine 2017;46(7):926-928
Objective To use the matrix assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF-MS) technique for detecting the mutation gene of neonatal non-syndromic hereditary hearing impairment gene in Guangxi and to investigate its effectiveness and feasibility in clinical application.Methods A total of 7 100 newborns were performed the hearing preliminary screening and secondary screening by adopting AABR.The genomic DNA was extracted by the heel blood spot.Twenty mutation characteristics of 4 deaf predisposing genes were detected by MALDI-TOF-MS.Results The pass rate of hearing screening in 7 100 newborns was 97.11% (6 895/7 100),the positive rate of neonatal gene mutation was 3.54% (251/7 100),in which the GJB2 gene mutation was in 131 cases,the carrying rate was 1.84%,235delC heterozygous mutation was in 108 cases.SLC26A4 gene mutation was in 93 cases,which dominated by 1229C>T heterozygous mutation and IVS7-2A>G heterozygous mutation,mtDNA12SRNA gene mutation was in 16 cases and GJB3 gene mutation was in 11 cases.Conclusion Adopting the MALDI-TOF-MS screening technique can increase the detection rate of hot point mutation in common deaf related genes and discover neonatal genetic NSHI from molecular level and provides the corresponding geneticconsulting guidance for early finding and predicting deaf occurrence,and formulating the interventional measures.
3.Genetic analysis of neonatal glucose-6-phosphate dehydrogenase deficiency in Guangxi Zhuang Autonomous Region
Shihan FENG ; Limei HUANG ; Tingting JIANG ; Luping OUYANG ; Qi YANG ; Guoxing GENG
Chinese Journal of Endemiology 2021;40(11):927-931
Objective:To study the incidence of glucose-6-phosphate dehydrogenase (G6PD) deficiency and the gene carrying status of newborns in Guangxi Zhuang Autonomous Region (Guangxi for short), so as to provide theoretical basis for clinical genetic counseling and accurate diagnosis.Methods:A total of 63 606 newborns who underwent G6PD screening in Guangxi Neonatal Disease Screening Center from January 2017 to December 2018 were selected as study subjects; heel blood was collected to prepare dry blood spots. Fluorescence quantitative analysis was used in the preliminary screening, and the newborns with positive preliminary screening were recalled by telephone; further diagnosis was carried out via the G6PD/6-phosphogluconate dehydrogenase (6PGD) ratio method and genetic testing, the diagnosis rate of the two methods of newborns with positive preliminary screening were compared and analyzed, and genetic mutation testing was conducted.Results:Among 63 606 newborns who underwent G6PD preliminary screening, 4 267 newborns with G6PD positive were detected, and the positive rate of preliminary screening was 6.7%. Among them, the positive rates of preliminary screening of males and females were 10.3% (3 508/33 988) and 2.6% (759/29 618), respectively. The positive rate of preliminary screening of males was significantly higher than that of females ( P < 0.01). A comparative analysis of 777 newborns (519 males and 258 females) that underwent G6PD/6PGD ratio method and genetic testing at the same time as the recall showed that the diagnosis rate of the two methods for male newborns was the same, both of which were 95.6% (496/519). Among female newborns, 168 and 236 confirmed cases were detected by G6PD/6PGD ratio method and genetic testing, respectively, and the diagnosis rates were 65.1% (168/258) and 91.5% (236/258), respectively. The results of genetic mutation testing showed that the five common genotypes in Guangxi were c.1388 G>A, c.1376 G>T, c.95 A>G, c.871 G>A, and c.1024 C>T, respectively. Conclusions:The positive rate of G6PD preliminary screening of newborns in Guangxi is relatively high. It is recommended that G6PD/6PGD ratio method and genetic testing should be performed at the same time for diagnosis of female newborns with positive preliminary screening to avoid missed diagnosis and misdiagnosis.