Mitochondrial DNA Heteroplasmy of Hair Shaft Using HID Ion GeneStudioTM S5 Sequencing System / 法医学杂志

Objective To study the heteroplasmy of the whole mitochondrial genome genotyping result of hair shaft samples using HID Ion GeneStudioTM S5 Sequencing System. Methods The buccal swabs and blood of 8 unrelated individuals, and hair shaft samples from different parts of the same individual were collected. Amplification of whole mitochondrial genome was performed using Precision ID mtDNA Whole Genome Panel. Analysis and detection of whole mitochondrial genome were carried out using the HID Ion GeneStudioTM S5 Sequencing System. Results The mitochondrial DNA sequences in temporal hair shaft samples from 2 individuals showed heteroplasmy, while whole mitochondrial genome genotyping results of buccal swabs, blood, and hair samples from the other 6 unrelated individuals were consistent. A total of 119 base variations were observed from the 8 unrelated individuals. The numbers of variable sites of the individuals were 29, 40, 38, 35, 13, 36, 40 and 35, respectively. Conclusion Sequence polymorphism can be fully understood using HID Ion GeneStudioTM S5 Sequencing system.

Histone deacetylase inhibitor promotes differentiation of embryonic stem cells into neural cells in adherent monoculture / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Embryonic stem (ES) cells poss unlimited self-renewal capacity and the ability to differentiate into cell of all three germ layers in vitro. Induced differentiation of ES cells to neural lineage cells has great potential in basic study of neurogenesis and regeneration therapy of neurodegenerative diseases. Histone deacetylase (HDAC) inhibitors enhance histone acetylation so that globularly activate gene expression and may initiate multilineage differentiation. In this study, we aimed to develop a method to induce the differentiation of ES cells to neural cells combining HDAC inhibition and neural cell selection.</p><p><b>METHODS</b>In this study, we used HDAC inhibitor sodium butyrate (NaB) to induce the differentiation of mouse embryonic stem cells to neural cells through monolayer culture. After differentiation initiation by histone deacetylase inhibitor sodium butyrate, neural cells were induced and selected with a serum free culture system.</p><p><b>RESULTS</b>Homogeneous neurons without glial cells demonstrated by molecular marker expression were differentiated with the method. The resultant neurons were excitable.</p><p><b>CONCLUSION</b>The method combined differentiation induction effect of HDAC inhibitors and selective culture system to derive neural cells from ES cells, and implied the involvement of epigenetic regulation in neural differentiation.</p>

Five Years Follow-Up in Children with Secundum Artrial Septal Defect Using Amplatzer Occluder Device / 实用儿科临床杂志

Objective To evaluate the efficiency of transcatheter closure of secundum artrial septal defect (ASD) using Amplatzer occluder device in 5 years.Methods There were 18 children with ASD.Each ASD was occluded using Amplatzer occluder device through the percutaneous procedure.The closure procedure was guided by fluoroscopy and transthoracic echocardiography.All patients were followed up by physical examination,color flow echocardiography,chest radition,electrocardiography at 48 h,1month,3 month,6 month,one year,two years,three years,four years and five years.Results Cardiac murmur disappeared or lightened.Arrhythmia and right heart volume in all patients were improved after the procedure.A case revealed a trival shunt of short duration and vanished after one month color flow echo.A case has “spring′s beat” in heart when she goes to bed in three years after the procedure.Another patient had serious headach after closure and recoved after heparin therapy.Conclusions Transcatheter closure of secundum ASD using amplatzer occluder device is safe and efficient by follow-up.In order to prevent cerebral embolism,heparin should be injected in vein in two days.