基于自适应Chirplet分解的偏瘫肌强直症状评估

为对偏瘫患者的痉挛性肌强直症状进行定量评价,设计了一种基于自适应Ch irp let(线性调频小波)分解的表面肌电信号处理方法。采集了15例偏瘫患者在上肢单关节神经康复机器人上做肘关节被动屈伸动作时肱二头肌的表面肌电信号。通过比较不同患者的最优Ch irp let时频参数,量化评价患者肌强直症状。结果表明:通过该方法得到的患者在出现肌强直症状时的肌纤维放电时间与患者相应的简式Fug l-M eyer运动功能评价(上肢)分数存在较好的线性关系,可以从一个方面反映偏瘫患者患侧上肢的运动功能。     

基于自适应Chirplet分解的偏瘫肌强直症状评估

为对偏瘫患者的痉挛性肌强直症状进行定量评价,设计了一种基于自适应Chirplet(线性调频小波)分解的表面肌电信号处理方法。采集了15例偏瘫患者在上肢单关节神经康复机器人上做肘关节被动屈伸动作时肱二头肌的表面肌电信号。通过比较不同患者的最优Chirplet时频参数,量化评价患者肌强直症状。结果表明:通过该方法得到的患者在出现肌强直症状时的肌纤维放电时间与患者相应的简式Fugl-Meyer运动功能评价(上肢)分数存在较好的线性关系,可以从一个方面反映偏瘫患者患侧上肢的运动功能。     

先天性肌强直临床诊治3例

介绍了先天性肌强直症的临床表现和治疗方法。     

急性阑尾炎家族遗传性初探

目的:明确急性阑尾炎是否存在家族遗传性.方法:对经病理证实为急性阑尾炎并行手术的772例患者作回顾性调查分析.结果:有15家系76例有家族遗传倾向,其家族发病率为25.2%(76/302),并在其余695例中随机抽样56例作相关家系调查,其家族发病率为6.4%(56/879),经x2检验,P＜0.005,两组间家族发病率具有极显著的差异.结论:证实部份急性阑尾炎有家族遗传倾向.     

神经性肌强直一例报告

神经性肌强直(Neuromyotonia)。为一罕见之综合征,目前对之了解甚少。不同学者对其命名不同,有称之为“Isaacs-Mertens综合征”(Isaacs,1961.Mertens,1965)。现常用“神经性肌强直”一名。国内自1985年以来共报告10例,现将我院1987年4月收治一例报告如下。     

遗传的歧视与骄傲——解读托妮·莫里森的《所罗门之歌》

托妮·莫里森的《所罗门之歌》涉及了美国黑人的生理遗传和家族精神的遗传。这篇文章首先透过主人公奶娃及其姑母派拉特的人生轨迹来记载奶娃一家三代在家族精神遗传方面的骄傲;其次,从人类遗传学角度分析奶娃家族黑色皮肤遗传的必然,以此来揭示作为黑人在生理遗传方面所遭遇的难以磨灭的歧视。     

僵人综合征(附一例报告及文献复习)

僵人综合征(Stiff—man Syndrome, SMS)系一种罕见的肌强直症状群,其特点是躯干、四肢肌肉受刺激后僵硬,睡眠后放松,病因未明。各国报道仅有50余例。其中我国5例。我科于1987年收治一例,特此报告,并复习文献,介绍中西医结合治疗。 1 病例报告男性,36岁,农民,住院号24445。因反复肌强直痉挛15个月,僵卧月余,于1987年12月8日第5次住院。患者15个月前劳动时突觉腰腿紧缩疼痛,髋膝屈伸不便及牙关发紧而就     

一个腓骨肌萎缩家族

本文报道一个腓骨肌萎缩家族,调查涉及四代,其中有5人患病(4男,1女)根据家谱分析,本症符合常染色体显性遗传规律。     

为什么有的人耳朵可以动？

动耳朵和卷舌头一样都是遗传。人类的三块耳外肌已经退化，从前的人也许可以像其他灵长动物一样，用扇动耳朵，绷紧前额来威吓敌人。虽然我们不需要像狼那样移动耳朵朝向声源，但有些人确实可以通过收缩耳后肌拉动耳朵。     

应用PCR-STR技术构建一种数字化基因家谱

应用PCR-STR检测技术对收集到的家族成员的生物学样本进行检测分析,在得出明确的STR基因分型的基础上,由符合国际化标准的等位基因分型码形成基因数字串,同对应的基因座编码构成数字化基因家谱基本单位,再与个人信息等组成可以体现家族成员遗传标记和遗传关系的数字化基因家谱.数字化基因家谱对家族本身和群体遗传学研究具有重要意义.     

Exclusive gene mapping of congenital microphthalmia in a Chinese family

Congenital microphthalmia is a developmental ocular disorder and might be caused by the mutations in the genes involved in eye development. To uncover the genetic cause in a six-generation Chinese pedigree with autosomal dominant congenital microphthalmia, we performed genescan and linkage analysis in this family. Fourteen microsatellite markers on chromosomes 3, 11, 14 and 15 were selected as genetic markers according to the five pre-viously reported loci associated with microphthalmia (MITF, SOX2, PAX6, MCOP and NNO2). The genomic DNA of each member in the pedigree was amplified with 14 pairs of fluorescence labeled primers. Genome screening and genotyping were conducted on ABI377 DNA sequencer and linkage analysis was performed with Linkage software package. All two-point LOD scores of linkage analysis between the suggested disease genes and microsatellite markers were <-2, which indicated that none of the five genes were responsible for microphthalmia in this Chinese family. Microphthalmia in this family may be caused by mutation in a new gene which is essential in eye development.     

Bcl-2蛋白质家族调控细胞凋亡机制的研究进展

细胞凋亡是一种受基因调控的响应凋亡刺激的细胞程序性死亡方式.通过线粒体途径引发的凋亡主要由Bcl-2(B-cell lymphoma 2)蛋白质家族成员之间复杂的相互作用进行调控,然而科学界对其具体的相互作用模式一直存在争议.首先综述了近年来Bcl-2蛋白质家族成员之间相互作用的生物学机制,然后总结了细胞凋亡具有双稳性和该家族成员相互作用模式的数学模型,最后通过对目前流行的3种作用模式(即直接激活模式、间接激活模式、统一模式)进行数值模拟和分岔分析,认为统一模式是更合理的作用模式.以期能更好地理解病理细胞中可能存在的作用机制,从而为因凋亡异常引起的癌症、阿尔兹海默症等疾病的治疗和控制提供思路.     

抗松针褐斑病湿地松组培再生植株生长性状观察

对移栽至南京林业大学南大山苗圃的湿地松组培再生植株进行了苗高、地径、干形的比较。结果表明,各家系及无性系的生长状态存在差异。组培苗与实生苗间苗高差异较大,组培苗在早期生长速度不及实生苗,且抗病的家系不及普通的家系,抗病的8#和32#家系苗高差异不显著;实生苗、组培苗斜生现象严重;继代次数对组培苗的苗高、地径生长影响不大;组培苗年龄越大,苗高生长势越好,地径差异小;8#家系组培苗各无性系间苗高差异显著,地径差异不显著。     

科尔沁地区幽门螺杆菌感染流行病学分析

目的:探讨科尔沁地区幽门螺杆菌(Helico bacter pylori,HP)感染的流行因素.方法:运用χ2检验和χ2趋势性检验初筛出11个因素,进行多元逐步回归分析.蒙古族、家庭成员胃病史和接触牲畜3个因素进入回归方程.结果:所调查的608例胃炎、胃溃疡病人HP感染流行因素结果显示,HP阳性率为53.94%(328/608).结论:蒙古族、家庭成员胃病史和接触牲畜这3个因素可能是本地区HP感染的主要因素,并可认为HP感染可能是人畜共患病之一.     

桑青枯病病原G12-9内切葡聚糖酶基因的克隆和分类

桑青枯病是一种土传性细菌病害,从广东省桑园发生青枯病的桑树根部分离得到1株病原菌G12-9;经鉴定确定该菌为青枯菌（Ralstonia solanacearum）,该病原菌在TZC固体培养基上呈圆形及不规则圆形,菌落中央呈现淡红色,革兰氏染色成阴性。对G12-9分离株内切葡聚糖酶基因的克隆、序列测定及聚类分析结果表明,桑青枯菌G12-9内切葡聚糖酶属于糖基水解酶家族12。青枯菌最重要的致病性分泌系统为Ⅱ、Ⅲ、Ⅳ型分泌系统,内切葡聚糖酶属于细菌Ⅱ型分泌系统,内切葡聚糖酶对于青枯菌的定植及寄主植物的致病性有着非常重要的作用,明确该酶在糖基水解酶家族的分类地位对桑青枯病的防治具有重要意义。     

Human dopamine D1 receptor encoded by an intronless gene on chromosome 5

Receptors for dopamine have been classified into two functional types, D1 and D2. They belong to the family of receptors acting through G (or guanine nucleotide-binding) proteins. D2 receptors inhibit adenylyl cyclase, but D1 receptors stimulate adenylyl cyclase and activate cyclic AMP-dependent protein kinases. Dopamine D1 and D2 receptors are targets of drug therapy in many psychomotor disorders, including Parkinson's disease and schizophrenia, and may also have a role in drug addiction and alcoholism. D1 receptors regulate neuron growth and differentiation, influence behaviour and modify dopamine D2 receptor-mediated events. We report here the cloning of the D1 receptor gene, which resides on an intronless region on the long arm of chromosome 5, near two other members of the G-linked receptor family. The expressed protein, encoded by 446 amino acids, binds drugs with affinities identical to the native human D1 receptor. The presence of a D1 receptor gene restriction fragment length polymorphism will be helpful for future disease linkage studies.     

传染性法氏囊病病毒结构的分子生物学研究进展

传染性法氏囊病是一种严重危害雏鸡的免疫抑制性、高度接触性传染病.传染性法氏囊病病毒为双RNA病毒,有A、B两个片断.A片断编码4种蛋白VP2,VP3,VP4和VP5,B片断编码VP1蛋白.其中的VP2和VP3是主要的宿主保护性抗原,在病毒的结构、变异、毒力和免疫原性方面有着重要的作用.     

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome.

Here we report the identification and characterization of a gene defect causing Waardenburg's syndrome with hearing loss in a large Brazilian family. This demonstrates a mutation causing Waardenburg's syndrome as well as a mutation causing a form of congenital deafness. The mutation was found in the HuP2 gene, a member of the paired domain family of proteins that bind DNA and regulate gene expression. The mutation occurred in 100% of the cases with the disease in this family and was absent in a random sample of 50 unrelated control subjects. Identification of the Waardenburg's syndrome gene and future characterization of its gene product is likely to increase our understanding of the pathogenesis of this disorder and may allow prevention of deafness of this type.     

蒙古族非综合征型进行性耳聋一大家系

目的：确定该家系遗传病的临床类型和遗传方式，方法：采用现场调查、临床检查以及系谱调查与系谱分析方法，结果：本蒙古族非综合型性进行性耳聋家系共34人中有16名患者，其中男性7名，女性9名，临床类型属于感觉神经性耳聋，遗传方式为常染色体显性遗传，结论：非综合征型常染色体显性耳聋有明显的遗传异质性，至今已定位的非综合型基因座位约有84个，其中常染色体显性遗传41个，该蒙古族家系临床表现与国内外报道的其他种族和民族不完全相同，发病机理有必要进一步研究。     

Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene

A mutation at codon 717 of the beta-amyloid precursor protein gene has been found to cosegregate with familial Alzheimer's disease in a single family. This mutation has been reported in a further five out of approximately 100 families multiply affected by Alzheimer's disease. We have identified another family, F19, in which we have detected linkage between the beta-amyloid precursor protein gene and Alzheimer's disease. Direct sequencing of exon 17 in affected individuals from this family has revealed a base change producing a Val----Gly substitution, also at codon 717. The occurrence of a second allelic variant at codon 717 linked to the Alzheimer's phenotype supports the hypothesis that they are pathogenic mutations.