先天性长QT综合征家系的临床特点

的　通过对 3个先天性长QT综合征 (longQTsyndrome,LQTS)家系的调查 ,研究其发病情况、临床和心电图特点 ,推测其相应的基因型。方法　按常规采集 3个家系成员的临床病史 ,进行体格检查 ,采集静息心电图 ,测量QT间期和较正的QT间期。结果　 3个家系 4 3例中有 15例LQTS患者 ,11例可疑诊断。临床表现和心电图各异。结论　家系 1、家系 2和家系 3中LQTS患者的临床和心电图表现符合LQT2、LQT1和LQT3,可能为HERG、KVLQT1、和SCN5A的基因突变所致。     

二尖瓣脱垂综合征患者QT离散度分析

测定了30例二尖瓣脱垂综合征伴室性心律失常患者的QTd。结果发现，二尖瓣脱垂组QTd、QTcd、JTd显著延长，说明心室肌复极有局部的不均一性和电不稳定性，离散度与室性心律失常的发生密切相关，可能是室性心律失常发生的机理之一。QTd不仅能预测室性心律失常及猝死，而且能指导临床用药，是一很好的临床观察指标。     

先天性长QT综合征相关人类HERG基因真核表达载体的构建及其功能表达

目的构建先天性长QT综合征相关HERG基因的真核表达载体,观察其在真核细胞中的表达,建立稳定的细胞系,探讨基因的功能。方法原核克隆载体pGEM-HERG经限制性内切酶获得HERG cDNA,将HERG cDNA亚克隆到真核表达载体pcDNA3中,用Lipofectamin2000转染试剂介导将pcDNA3-HERG及荧光真核表达载体pRK5-GFP共转染至HEK-293细胞,利用G-418进行细胞筛选,并用稀释法建立稳定的HEK-HERG细胞系。用全细胞膜片钳技术检测HERG基因的功能表达情况。结果在原核克隆载体pGEM-HERG的基础上构建了HERG的真核表达载体pcDNA3-HERG,并使其在HEK-293细胞中成功表达,建立的HEK-HERG细胞系稳定传代。膜片钳技术检测到了HERG通道电流的表达。结论该方法可成功构建及表达HERG的真核表达载体,为今后突变型HERG的研究奠定了基础。     

小儿川崎病并嗜血细胞综合征1例

患儿，女，9个月。以间断性发热、咳嗽、皮疹及面色渐苍白3月余于2004年5月28日入院。3个月多前出现无名原因发热、咳嗽、皮疹，体温在38～39℃之间，发热同时伴有全身散在性红色米粒样大小皮疹，压之褪色；咳嗽呈阵发性加重伴轻度呼吸困难，肺部可闻及中小湿鸣。经胸部X线检查确诊为支气管肺炎。给抗生素治疗1周后，症状消失出院。     

家族性病态窦房结综合征(附1例系谱调查报告)

本文观察了一个病态窦房结综合征(简称SSS)伴常染色体显性遗传的家族。家族24人中有SSS4例。文献报道家族性SSS 的病因及发病机理不清,诊断标准为同一家族中发现多例SSS 患者,有明显的先天性和家族性倾向。治疗及预后同一般SSS。而本文资料表明,家族性SSS 的病因及发病机理与迷走神经张力持续升高有关,并有较好的预后,晚期多转变为持续且心室率较缓慢的心房扑动或心房颤动,一般不需安置人工心脏起搏器。     

5-HT4受体激动剂对肠易激综合征患者消化间期运动及胃肠激素的影响

目的探讨5-羟色胺4(5-HT4)受体激动剂对便秘型肠易激综合征患者(IBS-C)消化间期移行性复合运动(MMC)及血浆胃动素(MOT)、生长抑素(SS)、一氧化氮(NO)等胃肠激素有无影响。方法按照罗马Ⅲ标准招募26例IBS-C患者,同时招募28例健康对照者,对2组人进行MMC的监测,观察IBS-C患者给予5-HT4受体激动剂后MMC的变化。并且在给药前后留取MMC不同时期(Ⅰ、Ⅱ、Ⅲ期)的血液样本,对MOT、SS、NO浓度进行检测。结果①IBS-C患者给予5-HT4受体激动剂后,MMC周期显著缩短,MMCⅢ期收缩波幅均显著升高(P<0.01),MMCⅢ的传播速度加快(P<0.001)。②IBS-C患者给5-HT4受体激动剂后,血浆MOT水平显著升高(P<0.001),SS水平无显著变化(P>0.05),而NO水平显著降低(P<0.01)。③与健康人相比,IBS-C患者不同MMC时期血浆MOT浓度均显著降低(P<0.01),而SS浓度及NO浓度均显著高于健康人(P<0.001,及P<0.01)。结论上述结果为5-HT4受体激动剂治疗IBS-C的机制提供新依据,为研究IBS发病机制提供新的依据。     

Genotypic diagnosis of long QT syndrome by analysis of candidate genes

Objective To diagnose 6 LQTS families by genetic analysis. Methods A total aof 6 LQTS pedigrees with 43 family members were brought together for genetic diagnosis by using short-sequence tandem-repeat (SIR) markers or sequencing. Genomic DNA was extracted from blood samples by standard procedure. STR markers or KCNQ1, KCNH2 and SCN5A were amplified. The haplotype analysis for LQTS was performed. If the family got the negative haplotype analysis, the sequencing was performed. Results LQTS patients were always linkaged with the SCNSA gene in family 1. KCNH2 was linkaged with the disease in family 2 to 5.21 gene carriers were identified from these 5 families. A mutation (A561V-KCNH2) was only found in the proband of family 6 and an SNP (G1691A) was found in all the members of the family. Conclusion Genetic diagnosis can not only improve presymptomatic diagnosis,bnt also provide the basis for personal therapy and research on disease-causing mutations.     

A novel mutation-L539fs/47 of hERG in a Chinese long QT syndrome family

Objective To identify the mutation of human ether-a-go-go-related gene (hERG) and analyze the clinical characteristics of a Chinese family with long ST syndrome (LQTS). Methods The electrocardiogram and DNA samples were obtained from a Chinese LQTS family of 26 members. Genotype was performed with polymorphic short tandem repeat (STR) markers at the known LQT1, LQT2, and LQT3 loci. SSCP analysis was used to find aberrant conformers. hERG mutation was confirmed by cloning and sequencing. Results Three gene carriers were linked to chromosome 7q35-36, where the potassium channel gene hERG was encoded. A 19-base pair deletion was identified. The mutation was located at nucleotide position 1 619-1 637 between transmembrane domains S4 and S5. Furthermore, A1692G polymorphism was found both in the normal control and patients. Conclusion A novel 19 bp deletion mutation of hERG is identified in a Chinese family. All gene carriers are demonstrated to be typical LQT2 ECG phenotype.     

QT离散度正常值和性别差异研究

报告504例健康成人同步12导心电图QT离散度（QTdispersion，QTd）的分析结果。①各参数的测量结果（x±s）：QTd、矫正的QTd（QTcd）、QRS离散度（QRSd）、QT顶点的离散度（QTpd）、QRS起始早晚的离散度（OQTd）分别为：男性：48±13、51±14、30±11、43±16、18±6（ms）；女性：42±12、47±14、28±10、39±17、16±6（ms）。②性别差异：男性各参数离散度（QTd、QTcd、QRSd、QTPd、OQTd）及RR、QRS问期均大于女性，而QT、QTc、QTp间期却小于女性。③QT、QTd测量的可重复性受测量方法尤其是T波终点的确定方法影响。     

MECHANISM OF TORSADE DE POINTES IN SOTALOL-INDUCED LONG QT SYNDROME MODEL

BothacquiredandcongenitalLong QTSyndrome(LQTS)ischaracterizedbypolymorphousventriculartachycardia (PMVT ) ,Torsadedepointets(Tdp)andsuddencardiacdeath (SCD) .ThemechanismsofarrhythmiasinLQTScomefromdrug mimicingLQTSmodels[1 ] .Studiesshowedthatadecreaseofinwardcurrentand /oranincreaseofoutwardcurrentduring phase 2and 3repolarization prolongaction potentialduration(APD )andincreasetransmuraldispersionofrepolarization (TDR) ,whichactsasaprimarystepforthe generationofearlyafterdepolar…     

RESPIRATORY FAILURE AS THE FIRST PRESENTATION OF PATIENTS WITH MYASTHENIA GRAVIS: ONE CASE REPORT

Although respiratory failure commonly occurs during the course of myasthenia gravis ( MG),it is rarely described as the first presentation in patients with previously unrecognized MG.Here we reported one case of MG in a 76-year-old man with the isolated respiratory failure as the first symptom.As illustrated by this case,it is important to consider neuromuscular disorders in cases of unexplained respiratory failure.     

急性水中毒1例尸检报告

急性水中毒尸检报告罕见,占我校尸捡的0.1%。最近作者遇到1例并进行了法医解剖。由于水中毒常常涉及输液医疗纠纷,因此作者对急性水中毒提出了法医鉴定要点:①有引起细胞外液低渗的病史;②临床表现有脑水肿、肺水肿及分泌物增多;③血钠低于120mmol/L;④输液的程序和速度不当;⑤尸体解剖能除外常见的疾病、损伤或中毒死。