Association of Chromosome 9p21 Genetic Variants with Risk of Coronary Heart Disease in the East Asian Population: A Meta‐Analysis

Our aim was to evaluate the effect of SNPs in the 9p21 locus on genetic susceptibility of coronary heart disease in the East Asian population. We searched PubMed, EMBASE and CNKI for publications relating to the association between SNPs within the 9p21 locus and coronary heart disease in the East Asian population. This meta‐analysis was assessed by STATA 9.2. Twenty‐one studies from 15 eligible papers composing 25,945 cases and 31,777 control subjects were included in the meta‐analysis. The odds ratio (OR) and 95% confidence interval (CI) for the risk allele was 1.30 (1.25–1.35) with moderate heterogeneity. No publication bias was observed in this study. Sensitivity analysis further strengthened the validity of this association. In conclusion, SNPs within the 9p21 locus were strongly associated with the risk of coronary heart disease in the East Asian population with a similar risk OR to the Caucasian population.     

Polarization Control in Integrated Graphene-Silicon Quantum Photonics Waveguides

We numerically investigated the use of graphene nanoribbons placed on top of silicon-on-insulator (SOI) strip waveguides for light polarization control in silicon photonic-integrated waveguides. We found that two factors mainly affected the polarization control: the graphene chemical potential and the geometrical parameters of the waveguide, such as the waveguide and nanoribbon widths and distance. We show that the graphene chemical potential influences both TE and TM polarizations almost in the same way, while the waveguide width tapering enables both TE-pass and TM-pass polarizing functionalities. Overall, by increasing the oxide spacer thickness between the silicon waveguide and the top graphene layer, the device insertion losses can be reduced, while preserving a high polarization extinction ratio.     

Unintentional Injury,Supervision, and Discourses on Childproofing Devices

Unintentional injury prevention research focuses on parental supervision as critical to reducing toddler injury. We examine how the promotion of childproofing—as a mode of supervision—sells mothers “peace of mind” while also increasing “intensive mothering” and the “privatization of risk.” Drawing on the childproofing literature and meaning centered interviews with mothers of toddlers and childproofing business owners, we argue that the connection made by these groups between childproofing and “good parenting” ultimately obscures how this form of harm reduction economically and socially individualizes responsibility for child care.     

Development and clinical application of a preimplantation genetic testing for monogenic disease (PGT-M) for beta thalassemia in Vietnam

PurposeThe purpose of this research is to study the clinical outcomes using a next-generation sequencing-based protocol allowing for simultaneous testing of mutations in the beta thalassemia (HBB) gene, including single nucleotide polymorphism (SNP) markers for PGT-M along with low-pass whole genome analysis of chromosome aneuploidies for PGT-A.MethodsA combined PGT-M (thalassemia) plus PGT-A system was developed for patients undergoing IVF in Vietnam. Here we developed a system for testing numerous thalassemia mutations plus SNP-based testing for backup mutation analysis and contamination control using next-generation sequencing (NGS). Low -pass next-generation sequencing was used to assess aneuploidy in some of the clinical PGT cases. Patients underwent IVF followed by embryo biopsy at the blastocyst stage for combined PGT-A/M.ResultsTwo cases have completed the entire process including transfer of embryos, while a further nine cases have completed the IVF and PGT-M/A analysis but have not completed embryo transfer. In the two cases with embryo transfer, both patients achieved pregnancy with an unaffected, euploid embryo confirmed through prenatal diagnosis. In the further nine cases, 39 embryos were biopsied and all passed QC for amplification. There were 8 unaffected embryos, 31 carrier embryos, and 11 affected embryos. A subset of 24 embryos also had PGT-A analysis with 22 euploid embryos and 2 aneuploid embryos.ConclusionsHere we report the development and clinical application of a combined PGT-M for HBB and PGT-A for gross chromosome aneuploidies from 11 patients with detailed laboratory findings along with 2 cases that have completed embryo transfer.     

铁剥夺和铁超负荷对白血病细胞株HL-60凋亡的影响机制

目的探讨铁剥夺和铁超负荷对白血病细胞株HL-60细胞凋亡的影响及其机制,为临床采用铁剥夺策略治疗或辅助治疗白血病提供理论依据。方法在HL-60细胞培养基中分别加入不同浓度的去铁胺(DFO)或三氯化铁(FeCl3),造成细胞内铁剥夺或铁超负荷状态,采取噻唑蓝(MTT)法、DNA原位末端标记染色法(TUNEL)、免疫组化法检测铁剥夺和铁超负荷状态下HL-60细胞活力、凋亡率、细胞色素C(Cyt C)阳性细胞率。结果 DFO组细胞活力呈明显下降趋势,凋亡率呈显著上升趋势;FeCl3组细胞活力和凋亡率与对照组相比呈下降趋势;DFO组细胞胞浆内Cyt C阳性细胞率与对照组相比明显升高;而FeCl3组细胞浆内Cyt C阳性细胞率与对照组相比无明显差异。结论铁剥夺可促进线粒体释放Cyt C,诱导HL-60细胞凋亡;铁超负荷对线粒体释放Cyt C无直接影响作用。     

结核分枝杆菌Ag85B和MPT64基因疫苗的免疫原性比较

目的 :研究并比较结核分枝杆菌 (H37Rv)Ag85B和MPT6 4DNA疫苗免疫学特性 .方法 :雌性C5 7/6小鼠 2 0只 ,随机分为 4组 .A组 (PBS)、B组 (pcDNA3.1)、C组 (pcDNA/Ag85B)、D组 (pcDNA/MPT6 4 ) ;分别于胫前肌注射 7.5g·L-1利多卡因和质粒混合物 (1∶4 ,5 0 μL) ,含质粒 70 μg/次 ,末次免疫后 4wk收集血清测总IgG ,分离脾淋巴细胞用PPD刺激后分别作脾淋巴细胞增殖实验 (MTT法 )和测上清中IFN γ 含量 .结果 :Ag85B和MPT6 4基因疫苗均能诱导小鼠产生特异性的IgG(平均滴度为 1∶80和 1∶6 0 )、脾淋巴细胞增殖 (比值≥ 2 )和IFN γ 的分泌 (Ag85B 176 2ng·L-1;MPT6 4 15 2 3ng·L-1) ,其淋巴细胞增殖和IFN γ 的分泌水平 ,Ag85B优于MPT6 4 .结论 :Ag85B和MPT6 4DNA疫苗均能诱导小鼠产生特异性细胞免疫和体液免疫 .     

心肌灌注断层显像与心内膜心肌活检远期监测心脏移植术慢性排斥反应

目的 评估心肌灌注断层显像与心内膜心肌活检在心脏移植手术后远期监测慢性排斥反应中的作用。方法 在同一时期对7列心脏移植术后远期存活患者行心肌灌注断层显像与心内膜心肌活检，将两种方法的结果对比研究。结果 7例受体中，有4例患者的心内膜心肌活检为轻度慢性排斥反应，相应地心肌灌注断层显像为心肌血流灌注尚均匀，特异度为66．7％，1例漏诊，2例误诊。结论 心内膜心肌活检和心肌灌注断层显像都是监测慢性排斥反应的方法，前者仍然是诊断慢性排斥反应的金标准，后者对诊断有一定的特异性。