阿斯贝格症儿童的评估与干预

阿斯贝格综合症 (Asperger’sSyndrome ,AS)是一种主要以社会交往困难 ,及异常的兴趣行为模式为特征的儿童广泛性发育障碍。其评估与儿童孤独症有所不同 ,但在干预与治疗上可参考孤独症的原则与方法。     

间歇训练法的分类及在实践中的运用

通过对间歇训练法分类的研究，揭示了不同间歇训练法的特点，从而为实际训练提供了理论依据。     

运用高通量测序研究Alport综合征多能干细胞的microRNA及其靶基因(英文)

目的:寻找来源于Alport综合征患者与正常对照者的多能干细胞差异性表达的microR NA,并对差异性表达的microR NA靶基因进行预测。创新点:本研究不同于一般的试验标本,试验标本是来源于尿肾脏管细胞诱导而成的多能干细胞。基于Alport综合征是遗传疾病,我们对一遗传家系进行了系统的分析。寻找特异性的差异性表达microR NA及其靶基因,从基因水平对Alport综合征进行研究。方法:在前期工作中,成功地从实验者与对照者的尿肾脏管细胞诱导成多能干细胞。运用高通量测序技术分析并发现实验者与对照者之间差异性表达的microR NA。对差异性表达的microR NA靶基因进行预测,并进行靶基因聚集分析,研究靶基因主要参与的生物学过程。同时进行靶基因信号传导通路的分析,研究靶基因主要参与的细胞信号传导通路。结论:在实验组与对照组之间,发现了30个具有显著差异性表达的microR NAs,包括19个上调表达与11个下调表达。差异性表达的microR NA的靶基因主要聚集在细胞膜和细胞代谢过程;靶基因主要参与嘌呤代谢通路与丝裂原活化蛋白激酶(MAPK)通路。     

HPLC method for amino acids profile in biological fluids and inborn metabolic disorders of aminoacidopathies

Quantification of total and individual amino acids in biological fluids such as plasma, urine and cerebrospinal fluid has an important diagnostic implication in laboratory medicine. The present paper describes protocols for the assay of total amino acids by modified method based on dinitrophenyl and HPLC profile involving pre-column derivatization with o-pthalaldehyde (OPA) derivatization, respectively. The method, based on the alkylation of-SH groups prior to OPA derivatization of amino acids followed by reverse phase high performance liquid chromatography, provide a comprehensive profile of more than twenty amino acids (including-SH group containing) in a single run lasting about 45 minutes. The present study, apart from establishing the normal profile of amino acids in plasma of Indian sub population, also presents HPLC profile for some of the rare amino acidopathies.     

Post-primary school teachers’ knowledge and understanding of autism spectrum disorders

Current national policy in the Republic of Ireland advocates for the inclusion of students with learning difficulties in mainstream schools. With Asperger’s syndrome (AS) specifically, it is essential that teachers understand the syndrome and are well versed in appropriate approaches to effectively create an inclusive environment for these students in the mainstream classroom. This paper explores teacher knowledge and understanding of AS while also exploring what affects their confidence in educating students diagnosed with the syndrome. Data collection pre-dated changes to the DSM-V and as such AS is used throughout this paper. A survey was distributed nationally to a random sample of qualified post-primary school teachers. The findings revealed that teachers did not appear to possess an adequate level of knowledge and understanding in relation to the syndrome. Continued professional development programmes in the area appeared to have minimal effect, with those completing programmes scoring only marginally better than those who did not (2.85%). These findings are of concern if these teachers are then expected to foster an inclusive environment, particularly when a high proportion of teachers have previously taught a student diagnosed with the syndrome and their knowledge remains limited.     

农民工与近代中国“城市病”综合症——以苏南为中心的考察

农民工进城打工,推动了中国近代工商业的发展和城市的繁荣,但由于农村推力强劲,驱使大量富余劳动力不断向城市聚集,而城市有限的工商业发展水平来不及消纳,引起"城市化过度",从而不可避免地引发多种"城市病",形成"城市病"综合症。以近代苏南为中心的区域考察,显现出现代城市的十大病症与农民工大量向城市集中有内在关联。农民工进城打工,在给城市带来勃勃生机与活力的同时,也引发了诸如"非法占地"现象的普遍化、环境恶化、供应紧张物价腾涨、就业困难失业问题突出、劳工贫困化现象严重、城市技术革新动力不足、自杀等社会病态加剧、游民充斥乞丐遍地、社会治安状况堪忧、风化问题等。除十大"城市病"之外,其他诸如职业结构畸形、性别比失衡、交通拥挤等病态,也无不存在于苏南各城市中,由此构成"城市病"综合症。而"综合症"的"病源",与农民工的"城市化过度"直接关联。应该看到,农民工进城,固然促进了工商业的发展和城市的繁荣,没有农民工向城市的集中,近代苏南及中国的城市化是不可想象的,其正效应是不容忽视的;但由于受外国资本主义压制,工业发展缓慢,城市化步履维艰,无法吸收消化庞大的农民工大军,以致衍生出许多"城市病",对这种负面影响,同样不应回避。     

有机磷中间综合征的认识现状

目的:通过对有机磷中毒中间综合征临床发病机制、诊断标准以及治疗方法等方面的研究,更加深入的了解本病前沿研究进展。方法:复习近10年来前沿研究进展加以对比分析。结论:近年来对有机磷中毒中间综合征的认识不断深入、早诊断水平的提高以及医学硬件软件实力的提高,其死亡率却并未明显改善,其已成为危重病领域关注的重要问题和急救医学研究的热点。讨论:有机磷中间综合征现今主要治疗方案为除复能剂、抗胆碱能药物等治疗措施外主要依靠呼吸机辅助呼吸的支持。同时目前对中间综合征的发生发展病理生理机制尚不清楚,多数研究也是以学说的形式呈现,在某些学说方面也存在一定的争议。对于中间综合征发病基础机制的研究对于疾病的认识和发展以及指导治疗具有非常重要的指导意义。     

中国血管医学的过去、现在和将来

远古有文字记录的血管医学资料可回朔到2000多年以前，当时是以中 医、中药和针灸为主要诊治血管疾病的手段。现代医学自18世纪末引入，至上世纪50年代初 可进行一些动脉结扎和截肢类的手术。20世纪60年代以后，以我国断肢（指、趾）再植的成 功及布加综合征治疗方面的创新标志着我国显微血管外科和血管外科的发展和领先水平。从 20世纪90年代初始以微创法成功治疗创伤性动静脉瘘，后又以同法治愈腹主动脉瘤，并于20 世纪90年代末开始用以治疗夹层动脉瘤并取得成功。近来细胞和分子水平的研究已经取得一 些成果。展望前景，腔内治疗将被广泛地应用，其装置将获进一步改进。基因和药物涂层支 架、组织工程技术将在血管外科中得到更广泛而有效地应用。     

心理词汇的原型意义研究

随着心理语言学的发展,有关心理词汇的研究也在不断升温.在博览各家学说的基础上,首先肯定了心理词汇意义的模糊本质以及造成这种模糊本质的主要原因,然后探讨了可以代表词汇基本意义的原型成员以及词汇意义的原型特征,最后,在心理词汇意义具有模糊性和原型性的基础上,提出了心理词汇的内部结构具有双重性的假设.     

A novel splice mutation of HERG in a Chinese family with long QT syndrome

Congenital long QT syndrome (LQTS) is a genetically heterogeneous disease in which six ion-channel genes have been identified. The phenotype-genotype relationships of the HERG (human ether-a-go-go-related gene) mutations are not fully understood. The objective of this study is to identify the underlying genetic basis of a Chinese family with LQTS and to characterize the clinical manifestations properties of the mutation. Single strand conformation polymorphism (SSCP) analyses were conducted on DNA fragments amplified by polymerase chain reaction from five LQT-related genes. Aberrant conformers were analyzed by DNA sequencing. A novel splice mutation in C-terminus of HERG was identified in this Chinese LQTS family, leading to the deletion of 11-bp at the acceptor splice site of Exon9 [Exon9 IVS del (-12→-2)]. The mutation might affect, through deficient splicing, the putative cyclic nucleotide binding domain (CNBD) of the HERG K channel. This mutation resulted in a mildly affected phenotype. Only the proband had a history of syncopes, while the other three individuals with long QT interval had no symptoms. Two other mutation carriers displayed normal phenotype. No sudden death occurred in the family. The 4 affected individuals and the two silent mutation carriers were all heterozygous for the mutation. It is the first splice mutation of HERG reported in Chinese LQTS families. Clinical data suggest that the CNBD mutation may be less malignant than mutations occurring in the pore region and be partially dominant over wild-type function.