1.The present study of drug for promoting blood circulation to removing blood stasis on preventing and cureing restenosis after PTCA
International Journal of Traditional Chinese Medicine 2010;32(6):555-557
The restenosis after PTCA is the present puzzle. Researches show the advantage of drug for promoting blood circulation to removing blood stasis on preventing and cureing restenosis after PTCA. This article discuss Traditional Chinese Medicine's pathological mechanism after PTCA, and clinical and experimental reserch about Single Traditional Medicinal Herb, Traditional Chinese approved prescription, novel Preparation of drug for promoting blood circulation to removing blood stasis on preventing and cureing restenosis after PTCA. The purpose is improving the recognization of drug for the Promoting blood circulation to removing blood stasis.
2.Analog design of magnetic resonance imaging principle
Liping GAI ; Yanan LIU ; Xu LIU
Chinese Medical Equipment Journal 2003;0(11):-
By using VB program and FLASH making technique,the forming principle of electrocardiogram is vividly displayed,so that the students can understand it well.
3.Clinical and genetic analysis of a child with ZTTK syndrome due to heterozygous variant of SON gene.
Hongmei XIN ; Jianshe ZHAO ; Yuqiang LYU ; Yanan YANG ; Zilong LI ; Zhongtao GAI ; Yi LIU
Chinese Journal of Medical Genetics 2022;39(3):316-320
OBJECTIVE:
To explore the genetic etiology of a small-for-date infant with gastrointestinal bleeding, developmental delay and thrombocytopenia (Zhu-Tokita-Takenouchi-Kim syndrome).
METHODS:
Clinical and laboratory examinations were carried out for the patient. Next-generation sequencing (NGS) was used to detect potential variant associated with the disease. Candidate variant was verified by Sanger sequencing of the child and her parents.
RESULTS:
NGS revealed that the child has carried a heterozygous c.5751_5754del variant of the SON gene, which resulted in a frameshift p.V1918Efs*87. The same variant was detected in neither parent.
CONCLUSION
The heterozygous variant of SON gene probably underlay the ZTTK syndrome in this child. Above finding has enriched the mutational spectrum of the SON gene and provides a basis for genetic counseling and clinical decision-making.
Child
;
Family
;
Female
;
Genetic Testing
;
Heterozygote
;
Humans
;
Infant
;
Intellectual Disability/genetics*
;
Mutation