Genetic polymorphisms of pharmacogenomic VIP variants in the lhoba population of southwest China

Background: It is well-established that differences among ethnic groups in drug responses are primarily due to the genetic diversity of pharmacogenes. A number of genes or variants that play a crucial role in drug responses have been designated Very Important Pharmacogenes (VIP) by the PharmGKB database. Clarifying the polymorphic distribution of VIPs in different ethnic groups will aid in personalized medicine for specific populations. Methods: We sequenced 85 VIP variants in the Lhoba population based on the PharmGKB database. The polymorphic distribution of the 85 VIP variants in 100 Lhoba subjects was determined and compared with that of 11 major HapMap populations, including ASW, CEU, CHB, CHD, GIH, JPT, LWK, MEX, MKK, TSI, and YRI. We used χ² tests to identify significantly different loci between these populations. We downloaded SNP allele frequencies from the ALlele FREquency Database to observe the global genetic variation distribution for these specific loci. And then we used Structure software to perform the genetic structure analysis of 12 populations. Results: Based on comparisons of selected available loci, we found that 23, 28, 16, 10, 20, 16, 24, 19, 22, 21 and 36 of the selected VIP variant genotype frequencies in the Lhoba population differed from those of the ASW, CEU, CHB, CHD, GIH, JPT, LWK, MEX, MKK, TSI, and YRI populations, respectively. In addition, Pairwise FST values and clustering analyses also showed the VIP variants in Lhoba exhibited a close genetic affinity with CHD, CHB and JPT populations. Conclusion: Our results complement pharmacogenomic data on the Lhoba ethnic group and may be helpful in the diagnosis of certain diseases in minorities.     

主动脉瓣二叶畸形行主动脉瓣置换术后疗效的中期随访研究——基于倾向性评分匹配法分析

目的 探讨主动脉瓣二叶畸形(bicuspid aortic valve,BAV)与三叶主动脉瓣(tricuspid aortic valve,TAV)患者行主动脉瓣机械瓣置换(aortic valve replacement,AVR)术后中期疗效差异及影响因素.方法 回顾性分析2014年1月至2019年6月在陆军军医大...     

小儿外伤性脑梗塞的CT及临床分析

目的 探讨小儿外伤性脑梗塞的发病机理、CT表现、临床诊治及预后。方法 35例患儿均行横断位头颅CT扫描，予扩血管、解痉、神经营养及抗凝等治疗。结果 小儿外伤性脑梗塞好发于基底节区，CT扫描均表现为低密度影，治愈33例，CT低密度影消失，好转2例，CT低密度影范围缩小。结论CT扫描和追踪观察对小儿外伤性脑梗塞诊断有重要价值。本病经及早诊断治疗，预后良好。     

塔中某井区扭力冲击器应用效果分析

塔中某井区平均井深6000m 以上, 地层岩石抗压强度高, 研磨性强, 可钻性差。为了提高钻井速度, 控制 钻井成本, 该井区引入了“PDC+扭力冲击器” 钻井工艺。扭力冲击器通过把钻井液的能量转化成高频冲击力作用在钻 头上, 增加瞬时扭矩, 减少钻头卡滑效应, 提高钻头破岩效率。应用表明: 从二叠系到奥陶系井段, 使用PDC 扭力冲 击器较常规钻井工艺平均提速可达35%, 并节省3 趟起下钻时间, 其中在卡拉沙依组、巴楚组提速高达62%, 取得了显 著的提速效果, 为优化提速钻井工艺提供了一定的参考。     

Association of five single nucleotide polymorphisms at 6q25.1 with breast cancer risk in northwestern China

CCDC170 and ESR1, located at 6q25.1, were associated with breast cancer (BC) risk by genome-wide association studies. Our goal was to validate the association between CCDC170-ESR1 polymorphisms and BC risk in the population of northwestern China. A case-control study of 551 patients with BC and 577 control individuals was conducted from January 2011 to November 2014. We analyzed five BC-associated single nucleotide polymorphisms (SNPs) identified in CCDC170-ESR1 by previous studies. Logistic regression models were used to derive odds ratios (ORs) and 95% confidence intervals after adjusting for body mass index and age. The minor alleles of rs3757318, rs3734805, and rs2046210 were associated with increased BC risk (OR = 1.30, p = 0.005; OR = 1.28, p = 0.006; OR = 1.20, p = 0.033, respectively) in an allelic model analysis. Those three SNPs had a coincident significant association with increased BC risk in genetic models and stratification analyses. A new haplotype, “CT”, was associated with a 1.31-fold increased risk of BC (OR = 1.31, p = 0.006). The “C” allele of rs9383951 was associated with a reduced risk of BC (OR = 0.69, p = 0.048) in estrogen receptor-positive individuals under the log-additive model. Our data provide new evidence of the association between CCDC170-ESR1 and BC susceptibility in the population of northwestern China.     

Increased NUCKS expression is a risk factor for poor prognosis and recurrence in endometrial cancer

Nuclear ubiquitous casein and cyclin-dependent kinases substrate (NUCKS) was reported to function as a potential biomarker in various tumors. Thus, we aimed to explore the expression of NUCKS in endometrial cancer (EC) and its clinical significance using quantitative real-time PCR (qRT-PCR) and immunohistochemistry (IHC). qRT-PCR results showed that NUCKS mRNA expression gradually elevated from normal endometrium to atypical endometrial hyperplasia, and to EC (P < 0.05 between each group). NUCKS overexpression was strongly associated with FIGO stage (P = 0.002), histologic grade (P = 0.029), lympho-vascular space involvement (P = 0.014), lymph node metastasis (P = 0.019), and recurrence (P < 0.001). Cox multivariate analysis revealed that NUCKS overexpression was an independent factor for overall survival and recurrence-free survival (P < 0.001 for both). Multivariate logistic regression suggested that recurrence was independently correlated with NUCKS overexpresion (P = 0.039), FIGO stage (P = 0.002), and lymph node metastasis (P = 0.002). In summary, NUCKS overexpression may function as a potential biomarker for prognosis especially for recurrence in ECs.     

中药夜交藤化学成分的研究

从中药夜交藤中分得的Ⅰ、Ⅱ、Ⅲ、Ⅳ4种结晶性成分,通过化学及光谱分析证明,依次为大黄素、大黄素-6-甲醚、β-谷甾醇、大黄素-8-O-β-D-单葡萄糖甙。     

White and gray matter development in human fetal, newborn and pediatric brains

Brain anatomy is characterized by dramatic growth from the end of the second trimester through the neonatal stage. The characterization of normal axonal growth of the white matter tracts has not been well-documented to date and could provide important clues to understanding the extensive inhomogeneity of white matter injuries in cerebral palsy (CP) patients. However, anatomical studies of human brain development during this period are surprisingly scarce and histology-based atlases have become available only recently. Diffusion tensor magnetic resonance imaging (DTMRI) can reveal detailed anatomy of white matter. We acquired diffusion tensor images (DTI) of postmortem fetal brain samples and in vivo neonates and children. Neural structures were annotated in two-dimensional (2D) slices, segmented, measured, and reconstructed three-dimensionally (3D). The growth status of various white matter tracts was evaluated on cross-sections at 19-20 gestational weeks, and compared with 0-month-old neonates and 5- to 6-year-old children. Limbic, commissural, association, and projection white matter tracts and gray matter structures were illustrated in 3D and quantitatively characterized to assess their dynamic changes. The overall pattern of the time courses for the development of different white matter is that limbic fibers develop first and association fibers last and commissural and projection fibers are forming from anterior to posterior part of the brain. The resultant DTMRI-based 3D human brain data will be a valuable resource for human brain developmental study and will provide reference standards for diagnostic radiology of premature newborns.     

右上颌第二磨牙牙内陷1例报告及文献复习

目的：探讨上颌第二磨牙牙内陷患者的诊疗过程,分析罕见牙内陷患者临床表现、影像学特征和病理特点,制定合理的治疗方案。方法：收集1例牙内陷患者的临床资料、影像学表现和病理资料,分析磨牙区牙内陷患者的临床及影像学特征,结合相关文献,总结其临床诊断标准和治疗方法。结果：患者,女性,28岁,因发现右上后牙有洞6个月来本院就诊。专科检查可见17面平龈,牙冠巨大,面正中见凹陷及龋坏,未达髓腔,影像学检查可见17面类牙釉质密度影像向根方凹陷,深度约7.7mm,确诊为牙内陷。初诊时去除腐质,采用安抚治疗,复诊时发现患牙仍有自发痛,且未能解决食物嵌塞痛,考虑到术后恢复效果不佳,故患者同意拔除患牙。离体牙做病理磨片,显微镜下观察可见内陷处牙釉质及牙本质结构异常。结论：发生于磨牙区的牙内陷患者较为罕见,诊疗过程中应结合影像学检查明确疾病类型及治疗计划,建议治疗效果不佳的患牙应及时拔除。