中国人肝豆状核变性基因突变的分布特征

肝豆状核变性又称Wilson病(Wilson’s disease，WD)是一种伴随铜代谢障碍的常染色体隐性遗传性疾病，发病率为1：35000～100000。临床症状系由铜在体内蓄积所致，主要表现为肝硬化、神经精神系统功能障碍、角膜色素环(Kayser-Fleischer ring,KF环)及肾功能异常等。WD基因已被克隆并定位于13 q14．3，基因全长约80kb，含有21个外显子和20个内含子，其cD     

肝豆状核变性12,16,18号外显子基因突变1例分析

肝豆状核变性(hepatolenticular degeneration)又名Wilson病(WD),为常染色体隐性遗传的铜代谢障碍疾病,在世界范围内的发病率约为1/30 000~1/1 000 000[1],以儿童和青少年发病为主,是常见的遗传性肝病之一。其致病基因ATP7B已被定位于13q14.3区,近年来的研究证实中国患者的突变热区     

肝豆状核变性26例的护理

肝豆状核变性（HLD）又称W ilson′s病（W D）,是一种常染色体隐性遗传病,其基因编码一种参与铜跨膜转运的P型ATP 78酶,突变后致该酶功能下降或丧失,铜的排泄受阻,产生铜蓄积而导致肝、脑、肾等器官系统损害,以肝硬化和锥体外系症状常见,重者可因肝衰竭等死亡。本病虽然发病率不高,但病残率却较高,患者表现为程度不同的多方面的功能障碍,严重影响了患者生活质量和社会生活能力。我院2003-01/2007-12共收住肝豆状核变性26例,现报道如下。     

儿童肝豆状核变性18例分析

目的:探讨儿童肝豆状核变性(HLD)的临床特点。方法:回顾分析18例儿童HLD临床资料。结果:18例中以肝脏症状、神经/精神症状和其他症状起病者分别为12、4、2例,K-F环阳性13例,血清铜蓝蛋白降低16例,尿隐血阳性7例,尿蛋白阳性5例,父母近亲结婚2例,阳性家族史3例,治疗有效13例(72.2%)。结论:儿童HLD中以肝病为首发症状者最多见,角膜K-F环及血清铜蓝蛋白降低是本病的特征性改变,早期诊断予以青霉胺联合硫酸锌治疗可明显改善症状。     

肝豆状核变性1例

1病历要4290—02 女，13岁，维吾尔族。因进行性说话、行走困难伴震颤20d入院。20d前患儿无明显诱因出现四肢震颤、构音不清、行走困难，时有抽搐及无故哭笑不能自制，四肢震颤、说话困难症状加重，不能站立。为进一步诊断及治疗而来我院。查体：神志清，精神差，注意力不集中，构音困难，认知力、理解力下降，表情少而僵硬，流涎，瞳孔等大正圆直径约3．0mm，对光反射灵敏，咀嚼及吞咽困难，咀嚼肌无萎缩，额纹、鼻唇沟对称，口角无偏斜，皱额、闭眼、吹哨、露齿、鼓气等检查因患不配合不能完成。四肢震颤，肌张力较高，手指不能屈伸，双手不能旋前旋后，四肢屈曲，足内翻，肌肉无萎缩，腱反射亢进。指鼻、跟膝胫、快复轮替动作及反跳试验不能完成，脑膜刺激征（-），角膜清澈，未见局限或环形基质原混浊，未见K—F环。     

肝豆状核变性误诊2例

1病例报告 例1：男，17岁。主因神志不清1个月入院。入院前1个月与他人发生争执后出现神志不清，无抽搐及呕吐，无流涎及颜面紫绀。被送至当地某医院，查头颅CT示：两侧基底节区对称性低密度改变，少量硬膜下积液。诊断：（1）中毒代谢性疾病？（2）外伤性疾病？治疗1个月（用药不详）。病情无改善。来我院。既往无药物、毒物接触史，家族中无遗传病史。查体：营养欠佳，呈浅昏迷状态，面部、双小腿皮肤黝黑、粗糙．双眼向右侧凝视，     

荧光聚合酶链反应检测肝豆状核变性基因突变

肝豆状核变性又称Ｗｉｌｓｏｎ病 (ＷＤ) ,是一种常染色体隐性遗传病 ,胆汁排铜障碍引起金属铜离子沉积于体内多个器官 ,如肝、肾、大脑基底节和角膜等。为了达到早期诊断ＷＤ和检出症状前患者及携带者的目的 ,我们尝试采用荧光聚合酶链反应 (ＰＣＲ)方法检测中国人ＷＤ基因的突变热点Ａｒｇ778Ｌｅｕ(2 2 73Ｇ→Ｔ ,位于 8号外显子 ) ,发现该方法简便易行、准确性高 ,便于临床推广应用。现报道如下。一、材料和方法1 一般资料 :(1)研究对象 :6 6例ＷＤ患者来自 5 8个ＷＤ家系 ,男 38例 ,女 2 8例 ,平均年龄 15 .5岁。全部患者均经本院神经…     

肝豆状核变性误诊1例

1病例报告 女，9岁。因腹痛，水肿．皮肤黄染，解酱油样小便半月余第2次入院。半月前因进食豌豆出现乏力，皮肤黄染，解酱油样小便2d，以（1）溶血性贫血；（2）黄痘原因待诊第1次收住我科。入院后诊为蚕豆病给输同型血200ml，贫血好转，但黄痘不退，进一步经B超发现胆囊内胆汁滞留，又诊为出血性胆囊炎而转普外科住院治疗，原准备手术治疗，但病因不清．又转上级州医院儿科住院治疗6d，诊为肝豆状核变性，家属因经济困难而自动出院回家。回家后病情进一步变化，腹痛，全身水肿，     

肝豆状核变性的护理

总结了12例肝豆状核变性的护理经验，包括：饮食治疗，驱铜药物治疗观察护理，心理护理，出院指导，取得了较好的临床效果，该善了患者的生活质量。     

阿尔茨海默病的发病机制及其研究进展

阿尔茨海默病(Alzheimer'sdisease,AD)是老年人常见的一种慢性进行性神经退化性疾病,以痴呆为主要症状。因其患者多有记忆力、定向力及社会活动能力障碍,而且发病人数多,波及范围广,故AD成为老年医学中亟待解决、也是最棘手的问题之一,引起越来越多的重视。AD的发病机制目前学说众多,如胆碱能学说、自由基损伤学说、兴奋性氨基酸毒性学说、钙平衡失调学说等,随着分子生物学技术的渗入,对AD的分子机制也有了进一步深入的认识。本文综述了目前比较公认的AD的发病机制研究进展情况。     

川崎病患儿冠状动脉巨大瘤并其内血栓形成1 例

患儿男,年龄18个月,因发热1周伴颈部淋巴结肿大入院,临床诊断:发热原因待查:川崎病可能。运用GE Vivid5彩超仪进行心脏检查:取主动脉短轴切面观察,左、右冠状动脉主干均呈瘤样扩张,以左侧为甚,形态呈“纺缍状”;左支内径约12mm,开口处内径7mm,左前降支内径3.2mm,右支主干内径约8mm,LCA/AO=0.86,RCA/AO=0.57,冠状动脉成像:左、右冠状动脉内均可见稀疏的红色血流信号,测得左冠状动脉主干内舒张期血流速度约20cm/s。右室稍大;三尖瓣口探及轻度反流信号。超声诊断:左冠状动脉巨大瘤,右冠状动脉瘤声像,提示:川崎病冠状动脉改变。患儿住院治…     

急性脑出血患者下丘脑垂体肾上腺轴激素水平与出血量及证型的关系研究

目的 :探讨急性脑出血 (ACH)下丘脑垂体肾上腺 (HPA)轴激素与出血量大小及中风证型间的关系 ,以阐明其发病机制。方法 :采用放射免疫分析法 (RIA)和免疫放射分析法 (IMRA)分别对 10 9例 ACH患者进行促肾上腺皮质激素释放激素 (CRH)、促肾上腺皮质激素 (ACTH)、皮质醇 (CS)血浆含量进行测定 ,分析其与出血量大小及中风中脏腑或中经络变化的关系 ,并与 30位年龄相仿健康人作对照。结果 :ACH者 HPA轴激素含量显著高于正常对照组 (P均 <0 .0 1) ,中脏腑者显著高于中经络者 (P均 <0 .0 1) ;且与出血量大小密切相关。结论 :HPA轴中的 CRH、ACTH和 CS参与了 ACH病理发生发展过程 ,其动态变化可作为判断中脏腑、中经络患者微观辨证、病情程度、预后及疗效评定的客观指标。     

The distribution of blood group antigens and alloantibodies among Chinese in Taiwan

Most blood group antigens among Chinese people are very homogeneous (e.g., D, 99.4%; K, 0%; Fya, 99.7%). The frequency of clinically significant alloantibodies detected by the authors' crossmatching was only 0.146 percent, suggesting that pretransfusion testing can be greatly simplified in Chinese populations.     

Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology.

Wilson disease leads to severe hepatic and neurological pathology resulting from cellular copper overload in the respective tissue. Although the affected gene, ATP7B, has been identified, genetic testing is challenging, time-consuming and expensive. Here we describe the development and use of a novel diagnostic test for four frequent mutations (M769V, W779X, H1069Q and P1134P-fs) found in Germany and many other countries in Europe. The test is based on multiplex polymerase chain reaction and DNA strip technology and was found to be highly sensitive and specific, as well as timely and cost-effective. We conclude that this test is a useful and reliable tool to screen Wilson disease patients and their family members for these mutations and may facilitate diagnosis in this complex disease.     

正常人足底压力分布及其影响因素分析

目的　检测中国正常成人足底压力分布及其影响因素 ,为足底压力在各领域的应用提供基线数据。方法　使用自行研制的足底压力测量仪 ,检测 15 8例正常人静态和动态足底峰值压力和各部位最大压力。结果　正常人平均动态和静态足底峰值压力分别为 ( 2 .96± 0 .66)kg/cm2 和 ( 1.2 8± 0 .3 3 )kg/cm2 ;除足弓区域静态最大压力右足 [( 0 .3 8± 0 .17)kg/cm2 ]略大于左足 [( 0 .3 5± 0 .13 )kg/cm2 ]外 ,双足各部位动态和静态最大压力无明显差异 ;男性、女性动态 [( 2 .87± 0 .5 8)kg/cm2 和 ( 3 .0 7± 0 .77)kg/cm2 ]和静态 [( 1.2 7± 0 .3 4)kg/cm2 和 ( 1.2 8± 0 .3 2 )kg/cm2 ]最大峰值足底压力无明显统计学差异 ;静态峰值足压与体重指数 (BMI)弱正相关 ,r =0 .185 (P =0 .0 3 ) ;动态峰值足压与年龄、体重和BMI弱正相关 ,相关系数分别为 0 .175 (P =0 .0 3 )、0 .2 1(P =0 .0 0 9)、0 .2 45 (P =0 .0 0 2 )。结论　正常人静态和动态足底压力分布不同 ,双足压力分布对称 ,动态和静态峰值足压与年龄、性别、身高、体重相关性较弱。     

Non-radioactive detection of five common microsatellite markers for ATP7B gene in Wilson disease patients

Haplotype analysis using microsatellite markers is a useful indicator of specific mutations and is often exploited as the first large-scale screening technique to carry out the molecular characterization of the disease gene in probands from a specific population. However, the methodologies available are still cumbersome and require the use of either radioactive compounds or specialized equipment suitable to follow fluorescent dyes. Both these techniques may not be available for newly developing clinical laboratories. We have set up a sensitive and easy-to-use protocol to characterize five closely spaced, highly polymorphic microsatellite polymorphisms (CA repeats) that span the Wilson disease (WD) region, i.e. D13S316, D13S133, D13S301, D13S314, D13S315. The technique described here for the analysis of the WD gene microsatellite system relies on the quick detection method of silver staining, avoiding the use of toxic or sophisticated equipment. This approach could be the method of choice to implement molecular genetic testing in clinical laboratories, even those not especially equipped for DNA analysis and in particular in newly developed molecular genetics centers in countries whose population has not yet been characterized for WD-causing ATP7B gene mutations.     

The distribution of gene segments in T-cell receptor gamma gene rearrangements demonstrates the need for multiple primer sets

Limited data exist regarding the distribution of gene segments used in T-cell receptor γ gene rearrangements (TCRγGR) in T-cell lymphoproliferative disorders. The reported efficacy of TCRγGR protocols ranges from 60% to greater than 90%. Laboratories reporting a lower detection rate tend to use a limited set of primers. The goal of our study was to provide TCRγGR data to demonstrate the molecular biological basis for needing multiple primer sets targeting all gene segments. Sixty cases with a confirmed histological diagnosis of a T-cell lymphoproliferative disorder and TCRγGR were identified in our lymphoma registry from 1995 to 2001. DNA was obtained from fresh/frozen tissue, cell lysates, or paraffin-embedded tissue. Variable (Vγ) region gene segments were identified using denaturing gradient gel electrophoresis, which was used to select the cases in the study. Capillary electrophoresis using fluorescent-labeled joining (Jγ) region primers was performed to identify Jγ segments. Sixty cases contained a total of 98 TCRγGR, as some cases have more than one rearrangement. The most frequent gene segment combination involved the Vγ1–8 and Jγ1/2 segments. If a single primer set directed at these two segments were used for clinical diagnosis, that pair of primers would only diagnose 67% of cases as positive for TCRγGR. Our gene segment distribution data emphasize the importance of using a comprehensive set of Vγ and Jγ primers for an optimal detection rate of TCRγGR. Protocols with limited numbers of primers should be reconsidered.     

我国葡萄糖-6-磷酸脱氢酶缺乏症的分布特征和基因突变

葡萄糖-6-磷酸脱氢酶(glucose-6-phosphate dehydrogenas,G6PD)缺乏症是最常见的遗传性酶缺陷疾病,可导致急性溶血性贫血、新生儿高胆红素血症和慢性非球形红细胞溶血性贫血等疾病,其发生率和基因突变类型有明显的地域和种族特异性,本文主要综述了中国不同民族和地区G6PD缺乏症的分布特点和基因突变.