1.The Practice of Improving the Pharmacy Ethics Education in Medical Students
Ting SUN ; Jiang LIU ; Junzhen ZHANG ; Yugang SUN
Chinese Medical Ethics 2015;(5):765-768
This paper firstly analyzed from three aspects:the necessity of pharmacognosy medical ethics educa-tion, and then illustrates the main content of the medicine ethics education , this paper expounds the method and form of medicine ethics education , and finally summarizes the medicine ethics education for clinical practice stage of medical students experience:the medical institutions about the medicine ethics instances of intuitive for training medical students , strengthening medical students learn the importance of pharmaceutical ethics in clinical practice stage , in order to enhance the medical students medical moral sentiment , lay the foundation for clinical drug safety work.
2.Effect of nursing risk assessment combined with preventive nursing intervention on the incidence of complications and cardiovascular risk events in patients with cardiovascular disease
Junzhen SUN ; Zhimin WANG ; Yuanyuan CAI ; Huiping MAO ; Weihong ZHANG
Chinese Journal of Primary Medicine and Pharmacy 2020;27(4):489-492
3.Significance and case analysis of FMR1 mutation screening during early and middle pregnancy.
Qinying CAO ; Weihong MU ; Donglan SUN ; Junzhen ZHU ; Jun GE ; Yuanyuan PENG ; Jing ZHANG
Chinese Journal of Medical Genetics 2021;38(5):450-453
OBJECTIVE:
To screen for mutations of fragile X mental retardation 1 (FMR1) gene during early and middle pregnancy and provide prenatal diagnosis for those carrying high-risk CGG trinucleotide expansions.
METHODS:
Peripheral blood samples of 2316 pregnant women at 12 to 21(+6) gestational weeks were collected for the extraction of genomic DNA. CGG repeats of the FMR1 gene were detected by fluorescence PCR and capillary electrophoresis. Genetic counseling and prenatal diagnosis were provided for 3 women carrying the premutations.
RESULTS:
The carrier rate of CGG repeats of the FMR1 gene was 1 in 178 for the intermediate type and 1 in 772 for the premutation types. The highest frequency allele of CGG was 29 repeats, which accounted for 49.29%, followed by 30 repeats (28.56%) and 36 repeats (8.83%). In case 1, the fetus had a karyotype of 45,X, in addition with premutation type of CGG expansion of the FMR1 gene. Following genetic counseling, the couple chose to terminate the pregnancy through induced labor. The numbers of CGG repeats were respectively 70/- and 29/30 for the husband and wife. In case 2, amniocentesis was performed at 20 weeks of gestation. The number of CGG repeats of the FMR1 gene was 29/-. No abnormality was found in the fetal karyotype and chromosomal copy number variations. The couple chose to continue with the pregnancy. Case 3 refused prenatal diagnosis after genetic counseling and gave birth to a girl at full term, who had a birth weight of 2440 g and no obvious abnormality found during follow-up.
CONCLUSION
Pregnant women should be screened for FMR1 gene mutations during early and middle pregnancy, and those with high-risk CGG expansions should undergo prenatal diagnosis, genetic counseling and family study.
DNA Copy Number Variations
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Female
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Fragile X Mental Retardation Protein/genetics*
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Fragile X Syndrome/genetics*
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Genetic Counseling
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Humans
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Mutation
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Pregnancy
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Trinucleotide Repeat Expansion
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Trinucleotide Repeats
4.Prenatal diagnosis and genetic counseling in two pedigrees affected with infantile polycystic kidney disease due to PKHD1 gene mutations.
Qinying CAO ; Weixia ZHANG ; Jun GE ; Donglan SUN ; Qingqi FENG ; Caixia LI ; Yucui MENG ; Junzhen ZHU
Chinese Journal of Medical Genetics 2019;36(8):765-768
OBJECTIVE:
To detect potential mutations of the PKHD1 gene in two pedigrees affected with infantile polycystic kidney disease.
METHODS:
Clinical data and peripheral venous blood samples were collected from the probands and their parents as well as fetal amniotic fluid cells. Genome DNA was extracted from the peripheral blood samples and amniotic fluid cells. Exons 32 and 61 of the PKHD1 gene were amplified with PCR and subjected to direct sequencing.
RESULTS:
The proband of pedigree 1 was found to carry c.4274T>G (p.Leu1425Arg) mutation in exon 32 and c.10445G>C (p.Arg3482Pro) mutation in exon 61 of the PKHD1 gene, which were inherited from her father and mother, respectively. The fetus has carried the c.4274T>G (p.Leu1425Arg) mutation. In pedigree 2, the wife and her husband had respectively carried a heterozygous c.5979_5981delTGG mutation and a c.9455delA mutation of the PKHD1 gene. No chromosomal aberration was found in the umbilical blood sample, but the genetic testing of their fetus was failed. Based on software prediction, all of the 4 mutations were predicted to be pathogenic.
CONCLUSION
PKHD1 c.4274T>G (p.Leu1425Arg), c.10445G>C (p.Arg3482Pro), c.5979_5981delTGG and c.9455delA were likely to be pathogenic mutations. The results have facilitated genetic counseling and prenatal diagnosis for the two pedigrees.
DNA Mutational Analysis
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Female
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Genetic Counseling
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Humans
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Mutation
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Pedigree
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Polycystic Kidney Diseases
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diagnosis
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genetics
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Pregnancy
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Prenatal Diagnosis
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Receptors, Cell Surface
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drug effects
5.PRMT6 promotes tumorigenicity and cisplatin response of lung cancer through triggering 6PGD/ENO1 mediated cell metabolism.
Mingming SUN ; Leilei LI ; Yujia NIU ; Yingzhi WANG ; Qi YAN ; Fei XIE ; Yaya QIAO ; Jiaqi SONG ; Huanran SUN ; Zhen LI ; Sizhen LAI ; Hongkai CHANG ; Han ZHANG ; Jiyan WANG ; Chenxin YANG ; Huifang ZHAO ; Junzhen TAN ; Yanping LI ; Shuangping LIU ; Bin LU ; Min LIU ; Guangyao KONG ; Yujun ZHAO ; Chunze ZHANG ; Shu-Hai LIN ; Cheng LUO ; Shuai ZHANG ; Changliang SHAN
Acta Pharmaceutica Sinica B 2023;13(1):157-173
Metabolic reprogramming is a hallmark of cancer, including lung cancer. However, the exact underlying mechanism and therapeutic potential are largely unknown. Here we report that protein arginine methyltransferase 6 (PRMT6) is highly expressed in lung cancer and is required for cell metabolism, tumorigenicity, and cisplatin response of lung cancer. PRMT6 regulated the oxidative pentose phosphate pathway (PPP) flux and glycolysis pathway in human lung cancer by increasing the activity of 6-phospho-gluconate dehydrogenase (6PGD) and α-enolase (ENO1). Furthermore, PRMT6 methylated R324 of 6PGD to enhancing its activity; while methylation at R9 and R372 of ENO1 promotes formation of active ENO1 dimers and 2-phosphoglycerate (2-PG) binding to ENO1, respectively. Lastly, targeting PRMT6 blocked the oxidative PPP flux, glycolysis pathway, and tumor growth, as well as enhanced the anti-tumor effects of cisplatin in lung cancer. Together, this study demonstrates that PRMT6 acts as a post-translational modification (PTM) regulator of glucose metabolism, which leads to the pathogenesis of lung cancer. It was proven that the PRMT6-6PGD/ENO1 regulatory axis is an important determinant of carcinogenesis and may become a promising cancer therapeutic strategy.