Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC

Beta-thalassemia is a common inherited disease, resulting from one or more of a total of more than 200 different mutations in the beta-globin gene (HBB). Efficient and reliable mutation-screening methods are essential in order to establish appropriate prevention programs for at-risk populations based upon a molecular diagnosis. We have developed a rapid and highly-specific mutation screening test for the diagnosis of beta-thalassemia by coupling heteroduplex and primer-extension analysis based on the denaturing high performance liquid chromatography (DHPLC) system. A total of 161 healthy heterozygous Taiwanese carriers featuring 10 different HBB mutations and 30 patients exhibiting 12 different compound heterozygous or homozygous HBB mutations were subjected to DHPLC. The elution profile for the heteroduplex analysis of DHPLC could be successfully used to identify the common disease-causing mutations of HBB. To further confirm the sequence variants, we developed a technique combining multiplex primer-extension analysis coupled with DHPLC for the genotyping of eight common disease-causing mutations in the HBB gene. Overall, by coupling heteroduplex and primer-extension analysis based upon DHPLC, we were able to unambiguously identify the most-common beta-thalassemia mutations corresponding to more than 99% of HBB alleles among the Taiwanese population. In conclusion, compared to classic approaches to mutation screening for this malady, we suggest that DHPLC is an excellent technique to be applied to the genetic screening of prenatal and postnatal individuals as a part of a diagnosis program for beta-thalassemia and provides a more-efficient, economic, and sensitive means to undertake such a screening program.     

均匀材料和基于CT灰度值材料的股骨、胫骨有限元分析

为了定量分析骨量分布与载荷环境的关系,基于CT数据建立了大鼠股骨和胫骨的三维有限元模型,并分别赋予均匀的材料特性和基于CT灰度值的材料特性,用描述骨密度与力学刺激关系的算法来评估简单生理载荷下两种材料模型的有限元分析结果。结果表明,基于CT灰度值模型的有效应力和应变能密度分布与CT灰度分布比较相似,相关系数也较均匀材料模型更高;而且,基于CT灰度值模型的抗断裂能力更强;除此之外,这类模型也更符合骨再造平衡时的力学刺激均匀性假设。基于CT灰度值的有限元模型符合骨的功能适应性原理,可用于进行骨骼内部受力、变形和断裂分析,以及骨再造的数值仿真等研究。     

基于PDA的嵌入式ECG监护分析仪

目的为了方便快捷地实时监测心律失常,设计一种基于PDA的嵌入式ECG监护分析仪。方法仪器功能包括低功耗MSP430系列单片机控制心电信号的采集、放大、滤波、转换和在PDA上实时显示、存储和分析,并实现心电数据的远程传输。对仪器工作原理进行分析,把监护分析仪总体结构划分为子模块,并具体介绍各子模块的功能与实现。结果与结论与医院现有的三导全自动心电图机、Holter动态心电图机进行对照,本监护分析仪携带方便、操作简单、接收的心电信号无失真,连续工作时间大于20h等。各高频干扰信号对ECG信号无影响;软件可对心电信号进行实时显示,可连续记录15h的原始心电数据。     

Domains of macaque DC-SIGN essential for capture and transfer of simian immunodeficiency virus

The C-type lectin DC-SIGN mediates the capture and transfer of simian immunodeficiency virus (SIV) from macaque dendritic cells (DCs) to permissive T-cells. To further identify the determinants in macaque DC-SIGN required for capture and transfer of virus, we created mutants containing deletions or point mutations in the extracellular domains, and tested their ability to capture and transmit SIV. We found that SIV bound to the carbohydrate recognition domain (CRD) of macaque DC-SIGN via the envelope protein. In addition, deleting the C-terminal half of the CRD, or mutating amino acids within this region that contact Ca(2+) or mannose, disrupted virion capture activity. However, an N-terminal CRD deletion mutant was capable of binding SIV, indicating that this region was not necessary for binding. Finally, deletion of the neck domain also reduced the capacity for macaque DC-SIGN to capture SIV. Interestingly, ICAM-3, the cellular ligand for DC-SIGN, did not bind to any of the DC-SIGN mutants, including mutants with amino acid changes in the N-terminal region of the CRD. These data suggest that the binding sites for SIV and ICAM-3 may be distinct but overlapping. Together, the data demonstrate the importance of both the neck and the CRD of macaque DC-SIGN for efficient capture of SIV and binding to ICAM-3.     

眉部运动的显微外科解剖学研究及其临床意义

目的：为解决除皱术中眉毛上提效果欠佳,不够持久的问题。方法：对10例新鲜尸体进行了大体及显微解剖。结果：证实了额肌深面“滑动层”和“滑动间隙”的存在,观察了眉内侧2／3自皮肤向深面发出固定到眉嵴处的眉毛支持韧带,外侧上方的颞融合线和下方的眉限制韧带静态固定结构,上述结构决定了眉毛的形态;阐述了额肌、皱眉肌和降眉肌的眉毛动力机制,探讨了老年性外侧眉毛下垂主要由于外侧的滑动脂肪垫向下“疝出”所致。结论：通过破坏“滑动间隙”,切断颞融合线和眉限制韧带,切除外侧滑动脂肪垫,达到眉部上提的良好、持久效果。     

焦虑性神经症患者投入超脱程度及相关因素研究

为了测量焦虑性神经症患者的认知 ,我们编制了精神超脱量表 ,并在大学生和社区人群中进行了信度和效度的检验[1] 。根据道家认知治疗的理论基础 ,焦虑性神经症患者应该存在认知偏差。那么这种偏差具体是什么 ,和患者的人格特征 ,A型行为特征和临床症状又有什么样的关系呢 ?为此我们对焦虑性神经症患者进行了对照研究 ,以验证在临床中发现的神经症患者的认知偏差及其临床意义。1　材料与方法1.1　研究对象患者来自 2 0 0 1年 2月至 2 0 0 2年 8月之间在某综合医院精神科门诊和某精神病院神经症病房就诊的焦虑性神经症患者 ,符合CCMD - 3中…     

Determinants of private clinics' productivity: a comparison of city and county clinics in Korea

This study was designed to assess determinants of private clinics' productivity, and to compare city and county clinics in South Korea. We analyzed the revenue and patient data from all 9,212 private clinics in South Korea. This data was obtained from the Korean National Health Insurance Corporation, during the period between 1996 and 1999. We used a mixed model for repeatedly measured data. The following listed variables were used in our analysis: sex and age of physician, number of beds of clinics, competitiveness of medical institution, inhabitants'incomes, the proportion of elderly in the administrative unit, and time effects. Age, sex, number of beds, and specialty were found to be the most relevant determinants for the productivity of private clinics in both urban and rural settings, and number of clinics and beds per 100,000 and income of the administrative unit were found to be significant determinants, but only in city environments.     

中国胰岛素依赖性糖尿病病人（HLA－DR9）的HLA－DQB1基因顺序分析

用血清学方法研究显示中国人胰岛素依赖性糖尿病（ＩＤＤＭ）与ＨＬＡ－ＤＲ９相关。鉴于白种人中的研究显示ＩＤＤＭ与ＨＬＡ－ＤＱβ链第５７位氨基酸相关，Ａｓｐ－５７对ＩＤＤＭ呈抗性，ｎｏｎ－Ａｓｐ与ＩＤＤＭ易感性相关。我们用ＰＣＲ技术扩增了中国人中血清学ＤＲ９纯合的ＩＤＤＭ患者和正常对照的ＨＬＡ－ＤＱＢ１基因第二外显子并测定了核苷酸顺序，结果未发现ＩＤＤＭ特异ＨＬＡ－ＤＱＢ１等位基因，但发现ＩＤＤＭ病人ＨＬＡ－ＤＱＢ１５７位均为天冬氨酸。表明中国ＩＤＤＭ患者中的ＨＬＡ－ＤＱＢ１５７位天冬氨酸不一定具有保护个体抵抗ＩＤＤＭ的足够能力。ＩＤＤＭ易感性可能涉及多个基因位点的变化，另外还可能与其它遗传因素及环境因素有关。