变性高效液相色谱法在家族性阿尔茨海默病突变位点检测中的应用

目的 通过对一个阿尔茨海默病（Alzheimer disease,AD)大家系突变位点的检测，探讨中国人家族性AD（familial Alzheimer disease,FAD)的发病机制，同时观察变性高效液相色谱法（denaturing high performance liq-uid chromatography,DHPLC)的实用价值。方法 应用DHPLC方法及DNA直接测序技术。对一个有130人的AD大家系和50名正常对照者进行了淀粉样蛋白前体（amyloid precursor protein,APP)基因，早老素1（prese-nilin1,PS1)基因的突变位点检测。结果 （1）5例AD患者及4例家系中的无痴呆症状者（Ⅳ-30,37,41,43)经DHPLC检测有PS1基因的第5外显子的突变峰，家系中其他成员无突变峰，PS1基因其他外显子检测及APP基因检测，家系中所有成员和正常对照组均无突变峰。（2）上述9例经DNA直接测序在PS1基因第5外显子的136号密码子发生了GCT→GGT错义突变，使丙氨酸变为甘氨酸（Ala136Gly)，无突变峰者DNA测序均未发现异常。结论 （1）DPLC检测显示出这-AD大家系PS1基因第5外显子存在突变，该突变位点可能为中国人FAD患者早老素基因突变点之一。（2）DHPLC技术可作为大样本筛查突变位点的一种便捷可靠手段。     

Mutational analysis of proto-oncogene Dbl on Xq27 in testicular germ cell tumors reveals a rare SNP in a patient with bilateral undescended testis

Objectives  

An abundance of X chromosomes in testicular germ cell tumors (TGCTs), and a candidate TGCTs susceptibility gene (TGCT1) on Xq27 highlight the potential involvement of X chromosomes in TGCT pathogenesis. However, the TGCT1 on Xq27 has so far not been identified. We hypothesized that a somatic mutation of dbl oncogene on Xq27 may play a role for the development of TGCTs.     

Biocompatibility of tetramethylpyrazine-eluting stents in normal porcine coronary arteries.

OBJECTIVE: Drug-eluting stents have been used to markedly decrease in-stent restenosis in 6 months, but they are noticed due to the late thrombogenicity. The purpose of the present study was to evaluate the biocompatibility of Tetramethylpyrazine-eluting stents by investigating the intimal response and thrombogenicity in normal porcine coronary arteries by quantitative coronary angiography (QCA), intravascular ultrasound (IVUS) and histomorphometry. METHODS: Bare metal stents (BMS) were uniformly spray-coated with Tetramethylpyrazine (TMP 200 microg) and prepared for TMP-eluting stents (TES). Fourteen coronary arteries in 14 pigs underwent stent implantation. Seven TES were implanted in 7 pigs and 7 BMS in other 7 pigs. The stents were deployed with a stent-to-artery ratio of 1.1-1.2/1.0 in order to induce vascular wall injury. QCA and IVUS were performed before and immediately after the implantations and at 28 days (end time point). The analysis on blood cell count, biochemical parameters, status of behavior of pigs were evaluated before the implantation and at the time of 1 and 28 days. Stented-coronary arteries, stented-coronary arteries related ventricular wall, lung, liver and kidney were harvested after euthanasia of animals at the endpoint. Histopathology and histomorphometry had been done to assess the local toxicity of TES to these organs. RESULTS: All the stents were successfully implanted, however, 4 pigs died of cardiac tamponade or anesthesia. No bone marrow depression and hemolysis was seen. No damage to the function and metabolism of liver and kidney was discovered. No thrombosis was found in control and test groups. Few inflammatory cells were found in the stented-coronary artery walls at each endpoint in both groups. No damage to stented-coronary arteries related ventricular wall, lung, liver and kidney was detected due to TES implantation. Compared with the control group, the neointimal area was significantly reduced in the TES group (60.2+/-23.5% vs 10.0+/-2.1%, P=0.01) by IVUS analysis, but the lumen area in the TES group was increased (4.34+/-0. 93 mm(2) vs 1.29+/-1.02 mm(2), P=0.011), the neointimal area was reduced markedly (1.51+/-0.45 mm(2) vs 4.60+/-1.39 mm(2), P=0.004). CONCLUSIONS: The biocompatibility of TES in porcine model at 28 days seems to be good and acceptable. Biocompatibility can be evaluated by IVUS and histopathology in a porcine restenosis model.     

乙型肝炎不同感染阶段HBV-DNA载量与病程的关系

目的　探讨乙型肝炎患者不同感染阶段HBV DNA的载量及与病程的关系。方法　用时间分辨荧光免疫分析系统和适时荧光定量PCR(FQ PCR)方法同时检测 2 99例不同感染阶段的乙型肝炎患者血清中HBeAg及HBV DNA的含量。 结果　不同病程阶段HBV DNA载量和HBeAg的含量是不同的 ,二者呈显著正相关 ,急性乙型肝炎的HBV DNA的载量与慢性乙型肝炎、肝炎肝硬化比较有统计学意义 (P <0 .0 5或P <0 .0 1)。在乙型肝炎血清免疫标志物的不同模式中 ,HBeAg阳性 /ALT异常组中HBV DNA的载量最高 ,HBeAg消失的乙型肝炎患者血清中HBV DNA的载量显著降低 ,但未发现HBeAg消失时HBV DNA载量的阈值 ;HBeAg阳性组、HBeAg阳性 /HBeAb阳性组、HBeAb阳性组的HBV DNA载量均有明显差异 ,且与HBeAg的含量呈显著正相关。结论　HBV DNA的载量和HBeAg的含量不仅是乙型肝炎病毒复制的直观依据 ,也是激发机体免疫反应而引起肝脏损伤的重要原因之一 ,而且对乙型肝炎的早期诊断、传染性的判断及抗病毒治疗方案的制定、药物的筛选及药物的疗效考核等均具有重要的价值。     

血浆置换模型与血浆胆红素浓度的变化规律

目的：探讨血浆置换过程中胆红素浓度随血浆置换量的变化规律，为临床大夫制定合理的血浆置换用量提供合理的理论依据。方法：通过对立血浆置换的数学模型，导出血浆置换过程中胆红素浓度与血浆置换量的解析表达式，通过对实验测量值的拟合确定模型参数。结果：通过与47例血浆置换的实验测量值比较，该模型的解析表达式较好地反映了血浆置换过程中胆红素浓度的实际变化规律。结论：胆红素浓度随血浆置换量的变化成指数衰减规律。随着血浆置换量的增加，胆红素浓度下降的速度逐渐减慢。     

宫腔镜治疗粘膜下子宫肌瘤的临床应用

目的：应用宫腔镜手术治疗粘膜下子宫肌瘤，并评价这种方法的疗效和安全性。方法：因子宫异常出血、不孕症、流产等经B超或宫腔镜检查诊断为粘膜下肌瘤，而行宫腔镜下子宫肌瘤电切术或同时行子宫内膜电切术96例，其中0型粘膜下子宫肌瘤62例，Ⅰ型28例，Ⅱ型6例，术后随访3—24个月。根据术后月经改善情况、是否有剩余肌瘤、剩余肌瘤有无增长、是否再次手术等将疗效分为满意和不满意。并根据并发症情况评价其安全性。结果：应用宫腔镜手术治疗粘膜下肌瘤术后满意度为98．96％，其中0型、Ⅰ型术后满意度100％，42例要求妊娠已妊娠29例，21例已分娩。Ⅱ型子宫肌瘤术后满意度83．33％。除1例发生宫腔粘连，1例术后发热，1例术后出血外，无其他并发症发生。结论：宫腔镜手术治疗粘膜下子宫肌瘤有效、安全，是目前的最隹选择。     

运用周氏剖宫产术子宫下段切口100例分析

目的　运用周氏剖宫产改变子宫下段切口位置观察娩头情况 ,以满足新生儿高Apgar评分。方法　选择浆膜线下约 2cm ,表面没有血管覆盖之处 ,在峡部形成的下段高位切口 ,约在传统切口之上 6～ 10cm。结果　周氏剖宫产术与传统式横切口剖宫产术娩头困难及Apgar评分有显著差异 (P <0 0 5 ) ,并且损伤两侧血管的百分率较低 ,出血少 ,不易产生血肿。结论　采用周氏剖宫产术不损伤子宫切口便于娩头 ,满足高评分 ,降低新生儿窒息率。     

西替利嗪与酮替芬治疗儿童急性荨麻疹的比较

目的 比较西替利嗪与酮替芬治疗学龄期儿童急性荨麻疹的疗效和不良反应。方法 6-12岁急性荨麻疹病人98例，分别给予口服西替利嗪(49例，10mg，1次／d)及酮替芬(49例，2／3片，2次／d)，均用药7d；根据治疗前后病损总积分下降指数，分析疗效并观察比较不良反应。结果 治疗总有效率，西替利嗪组为95．8％，酮替芬组为85．7％，二组无显著差异；西替利嗪组仅有2例出现注意力或记忆力减退，酮替芬组则出现嗜睡l0例，口干5例，注意力或记忆力减退2例。结论 西替利嗪对学龄期儿童急性荨麻疹的疗效并不明显优于酮替芬，但其不良反应轻微。     

坐骨神经与梨状肌的位置关系

共解剖56具童尸(男29具,女27具)计112例。观察坐骨神经和梨状肌位置关系的类型。常见型占57.1±4.67%、非常见型占42.9±4.68%,其中以Ⅱ型较多见。统计结果证明坐骨神经出盆时的形态有很大的差异,而各种型式在性别之间及左右侧之间均无显著差异。两侧同型的占73.2±5.92%。