Reevaluation of von Willebrand disease diagnosis in a Croatian paediatric cohort combining bleeding scores,phenotypic laboratory assays and next generation sequencing: a pilot study

IntroductionThis study reevaluated von Willebrand disease (vWD) diagnosis in a Croatian paediatric cohort by combining bleeding scores (BS), phenotypic laboratory testing, and next-generation sequencing (NGS).Materials and methodsA total of 25 children (11 males and 14 females, median age 10 years, from 2 to 17) previously diagnosed with vWD were included. BS were calculated using an online bleeding assessment tool. Phenotypic laboratory analyses included platelet count, platelet function analyser closure times, prothrombin time, activated partial thromboplastin time, von Willebrand factor antigen (vWF:Ag), vWF gain-of-function mutant glycoprotein Ib binding activity (vWF:GPIbM), vWF collagen binding activity (vWF:CBA), factor VIII activity (FVIII:C) and multimeric analysis. Next-generation sequencing covered regions of both vWF and FVIII genes and was performed on MiSeq (Illumina, San Diego, USA).ResultsDisease-associated variants identified in 15 patients comprised 11 distinct heterozygous vWF gene variants in 13 patients and one novel FVIII gene variant (p.Glu2085Lys) in two male siblings. Four vWF variants were novel (p.Gln499Pro, p.Asp1277Tyr, p.Asp1277His, p.Lys1491Glu). Three patients without distinctive variants had vWF:GPIbM between 30 and 50%. Patients with identified vWF gene variants had statistically significant lower values of vWF:GPIbM (P = 0.002), vWF:Ag (P = 0.007), vWF:CBA (P < 0.001) and FVIII:C (P = 0.002), compared to those without. Correlations between BS and phenotypic laboratory test results were not statistically significant for either of the tests.ConclusionThe applied diagnostic approach confirmed the diagnosis of vWD in 13 patients and mild haemophilia A in two. Limited utility of BS in the paediatric population was evidenced.     

《红高粱家族》英译的误译及对语篇理解的影响

著名汉学家葛浩文的《红高粱家族》英译本深受外国读者喜爱,影响较大,但是在他的译本中尚有很多误译之处。这些误译造成了译本语篇情节的缺失,从而影响读者对小说的理解。依据帕尔默的语篇情节概念,分别找出译本在语篇情节方面的五种图式上出现的误译,并对其进行分析研究,结果认为:参与图式中人称称谓上的误译使读者混淆人物关系,同时无法领会高密东北乡独特的说话方式;言语行为图式中陈述情节和表达情节的误译不仅使读者误读人物行为,还会使读者无法了解说话人潜在的情感;次第顺序图式的误译改变了部分语篇的行为结构,造成读者理解偏差;视角图式的误译使个别句子的意义与整个语篇想表达的内容不符,对读者理解语篇造成困惑;由文化差异造成的概念图式上的误译削弱读者对语篇的期待。所以,译者应对原文语篇情节进行妥善处理以减少误译,这才是读者识解语篇的关键。     

转录组测序在高等植物中的研究进展

随着高通量测序技术的发展,在高等植物中应用转录组测序的研究越来越多。转录组测序针对物种转录本直接进行测序,能够有效的获得基因编码序列,主要研究物种在不同时期,不同环境条件,不同处理方式等各个不同条件下的基因表达差异及调控模式差异。本文主要介绍了转录组测序的测序平台,实验流程,生物信息分析内容以及目前在高等植物中的广泛应用,讨论了转录组测序在高等植物中研究的问题和新的研究内容。     

基于模拟退火的多跑道飞机排序算法研究

空中交通管理中的飞机排序问题是NP-hard的问题。本文从单跑道的飞机排序模型推演出一种新的多跑道飞机排序模型;并首次为多跑道飞机排序问题设计模拟退火算法。最后的仿真结果表明,本算法可以快速地在极少的时间内排好飞机的降落顺序,说明了本算法模型能有效解决多跑道飞机排序问题。     

主位推进模式与作为听力材料的人物介绍语篇分析

从韩礼德的主位-述位概念出发,运用主位推进模式分析听力语篇中的人物介绍,探索人物介绍语篇的展开,以其规律指导听力教学。     

工件加工排序问题的研究

通过对在给定设备、按规定工序下多种工件加工排序问题的研究,得出了基于最短加工时间规则和优化加工顺序规则基础上的工件加工排序模型。该模型按工件加工时间长短,从短到长顺序排列,同时要求最紧张设备等待时间最小化。在设备等待时间最小化的前提下,优先加工在该设备上加工时间最短的工件,兼顾启发性的搜索方法,使平均流程时间最短。最后通过实例分析证实了该算法的有效性与实用性。     

高通量DNA测序技术及其应用进展

文章阐述了高通量测序技术的最新进展,重点介绍了新一代高通量测序技术的发展现状及存在问题,并对其目前在生命科学领域特别是生物医学中的应用进行了简单总结,同时通过单分子测序技术的发展现状对高通量测序技术的进一步发展方向进行了展望.     

句法象似性探究及实例分析

语言的任意性特征在现代语言学研究中一直占据统治地位,而象似性没有受到应有的重视。语言的象似性是指语言形式和其概念结构之间存在映照关系,而句法象似性指句法结构的组织形式和人的思维结构之间有着某种自然的对应关系,主要遵循三大理据原则:距离象似、顺序象似和数量象似。理解句法象似性的概念和原则,有助于从认知层面更好地掌握二语习得的规律,从而促进教学活动的顺利开展。     

高通量测序技术在水生态污染监测中的应用

针对张家港某河道水色异常事件,通过高通量测序技术结合显微镜鉴定结果,判断引起河道生态污染的微生物种类,并分析引起该事件的原因.通过Illumina测序,对河道的原核生物及真核生物分别进行测序,真核生物量较多且群落组成较为单一,原核生物量相对较少且群落分布较为均匀,与显微镜检测结果一致.对获得的OTU进行物种注释,得到引...     

Sequence-length variation of mtDNA HVS-I C-stretch in Chinese ethnic groups

The purpose of this study was to investigate mitochondrial DNA (mtDNA) hypervariable segment-I (HVS-I) C-stretch variations and explore the significance of these variations in forensic and population genetics studies. The C-stretch sequence variation was studied in 919 unrelated individuals from 8 Chinese ethnic groups using both direct and clone sequencing ap-proaches. Thirty eight C-stretch haplotypes were identified, and some novel and population specific haplotypes were also detected. The C-stretch genetic diversity (GD) values were relatively high, and probability (P) values were low. Additionally, C-stretch length heteroplasmy was observed in approximately 9% of individuals studied. There was a significant correlation (r=-0.961, P<0.01) between the expansion of the cytosine sequence length in the C-stretch of HVS-I and a reduction in the number of up-stream adenines. These results indicate that the C-stretch could be a useful genetic maker in forensic identification of Chinese populations. The results from the Fst and dA genetic distance matrix, neighbor-joining tree, and principal component map also suggest that C-stretch could be used as a reliable genetic marker in population genetics.