1.Exploration on the training model of applied undergraduate pharmacy talents under the perspective of industry education integration
Chen WANG ; Lingzhi TANG ; Lanmei CHEN ; Hongjuan BAO ; Yanan ZHANG ; Gang ZHANG ; Chuan CHEN ; Yingwen CAI
Chinese Journal of Medical Education Research 2022;21(1):27-30
This research analyzes and explores the elements of the industry education integration in the process of pharmacy talent training from two aspects: collaborative education (professional construction, curriculum co-construction, skill deepening and talent transfer) and collaborative innovation (base expansion, technological research and completion innovation). Besides, this research also explores the outstanding performance of School of Pharmacy of Xiamen Medical College in talent training of the industry education integration. The results show that through the construction of collaborative education and collaborative innovation, the elements of the industry education integration in the cultivation of pharmacy talents in the school have become increasingly prominent, and the forms have been gradually diversified, which have promotion and guiding significance for other majors in our school to develop the industry education integration.
2.Variation analysis of EPG5 gene in a Vici syndrome family.
Lulu YAN ; Yan CAI ; Yingwen LIU ; Chunxiao HAN ; Yifan HUO ; Min XIE ; Jiangyang XUE ; Haibo LI
Chinese Journal of Medical Genetics 2022;39(2):189-193
OBJECTIVE:
To explore the genetic etiology of Vici syndrome in a Chinese family.
METHODS:
Whole exome sequencing (WES) technology was used to detect gene variants in a fetus of abnormal ultrasonic structure without abnormalities in routine chromosome karyotype analysis and SNP-array. Sanger sequencing and bioinformatics prediction were performed for the suspected variants of the fetus and parents.
RESULTS:
The fetus and the elder sister have carried c. 2427delC (p.T809fs) and c.1886A>T (p.E629V) compound heterozygous variants of the EPG5 gene, which were respectively inherited from their mother and father. Neither variant was reported previously. According to ACMG guidelines, the c.2427delC variant was predicted as pathogenic, while the c.1886A>T variant was of uncertain significance. PolyPhen-2 and PROVEAN software indicated that c.1886A>T variant was probably damaging.
CONCLUSION
The c.2427delC and c.1886A>T variants of the EPG5 gene probably underlie the pathogenesis of the Vici syndrome in this family. Above finding has enriched the variational spectrum of EPG5 gene and provided a basis for genetic counseling and prenatal diagnosis for the family.
Aged
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Agenesis of Corpus Callosum
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Autophagy-Related Proteins
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Cataract
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Female
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Humans
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Mutation
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Pregnancy
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Vesicular Transport Proteins/genetics*
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Whole Exome Sequencing