北方汉族人群PAH基因STR多态性分析及PKU产前基因诊断研究

苯丙酮尿症（ＰＫＵ）是由肝脏苯丙氨酸羟化酶（ＰＡＨ）缺陷引起的常染色体隐性遗传病。临床主要表现为智力低下。研究表明，ＰＫＵ的分子基础主要是ＰＡＨ基因的点突变。到１９９６年，汇集２８个国家研究成果的ＰＡＨ基因突变数据库已登记３２０余种ＰＡＨ突变［１］。...     

中国军人在维和境遇下消化性溃疡的临床研究

目的调查分析赴刚果（金）执行维和任务的中国部队官兵消化性溃疡（pupticulcer,PU）的发病情况及诱因,以期为PU预防及治疗提供理论依据。方法以发放《消化性溃疡症状调查表》的形式,对前往刚果（金）执行维和任务的官兵进行调查。结果维和初期,有上消化道症状者占75.90%,PU症状发生率27.10%、PU发生率19.88%,高于维和中期PU症状发生率16.27%和PU发生率9.64%,差异比较具有统计学意义（P〈0.05）。结论加强维和一、二级医院医务工作者对PU的认识,提高PU的诊疗水平,可降低PU及其并发症的发生率。     

Lambert-Eaton肌无力综合征1例

病人,女,61岁.近1年来出现进行性四肢无力、酸沉,下楼或从坐椅上站起时尤为困难.1个月前四肢无力症状急剧加重,尤其以双下肢无力为著,并出现言语含糊,右眼睑下垂,口干,双下肢刺痛感.既往有30年抽烟史.查体:眼轮匝肌、颈屈肌、三角肌、肱三头肌力弱,肌张力减低,牵张反射消失,但活动后增强.未引出病理反射,感觉无异常.     

穿刺双侧桡动脉行对侧血管造影指引定位导丝治疗慢性冠状脉闭塞病变31例报告

目的 探索介入治疗仅由对侧冠状动脉向闭塞远端形成侧支循环的慢性冠状动脉闭塞病变时,穿刺双侧桡动脉行对侧血管造影指引定位导丝方法的安全性和可行性.方法 31例仅由对侧冠状动脉向闭塞远端形成侧支循环的慢性冠状动脉闭塞病变患者,穿刺双侧桡动脉,一侧送入6F Guiding和相应器材行介入治疗,另一侧送入5F共用型造影导管行对侧血管造影,术中根据侧支循环所致的远端血管显影来指引定位导丝前进方向、判断定位导丝是否在真腔内.结果 29例患者成功完成了经桡动脉途径冠状动脉腔内成形术(PTCA)及冠状动脉内支架术,2例失败.无冠状动脉穿孔及心包填塞发生.结论 穿刺双侧桡动脉行对侧血管造影,通过侧支循环使闭塞远端血管显影,术中指引定位导丝走行方向、判断定位导丝是否在真腔内的方法治疗仅由对侧冠状动脉向闭塞远端形成侧支循环的慢性冠状动脉闭塞病变是安全可行的.手术成功率有所提高,同时降低了穿刺相关并发症的发生率、不影响手术前后抗凝、抗血小板强度,避免患者术后因强制体位导致的诸多不适、住院时间和住院费用也相应减少.     

差示聚合酶链式反应检测骨髓转移的神经母细胞瘤N－myc扩增及临床意义

测定骨髓转移神经母细胞瘤（ＮＢ）Ｎ－ｍｙｃ扩增情况及评价其与预后的关系。采用差示ＰＣＲ法检测１７例骨髓转移ＮＢ的Ｎ－ｍｙｃ拷贝数，并随访１年。结果，１２例（７０．５９％）证实有Ｎ－ｍｙｃ扩增。Ｎ－ｍｙｃ扩增与ＮＢ分期及患者预后均成显著相关（分别为Ｐ＜０．０５，Ｐ＜０．０１）。有Ｎ－ｍｙｃ扩增者预后差，且扩增倍数越高则预后越差。因此，Ｎ－ｍｙｃ扩增对于ＮＢ分期及预后评估均为有价值的指标，它可能与ｃ－ｍｙｃ协同调控ＮＢ的生物学特性。差示ＰＣＲ作为一种建立在内参照原理上的新方法可定量测定基因拷贝数，比Ｓｏｕｔｈｅｒｎ杂交更简便、快速、灵敏、精确，适于临床应用。尤值一提的是，该法需样品量很少，且无同位素沾染。     

A POTENTIAL TUMOR SUPPRESSOR GENE： Doc-1R

Objective: To detect the expression and the genomie sequence of Doe-1R gene in mice. Methods: The gene specific primers were designed and synthesized according to the cDNA sequence of Doe-1R gene. The sequence of Doc-1R gene was cloned by nested PCR. The expression of Doe-1R gene was examined by RT-PCR in thirteen kinds of tissues of mice. Results: The mouse Doe-1R gene has been obtained by two times genomie walking, which spans 2787bp and contains four exons and three introns. All of the splice donor/aeeeptor site sequences are in accordance with the consensus “GT-AG” rule. There was expression of Doe-1R gene in the thirteen tissues. Conclusion: Themouse Doe-1R gene was cloned successfully. The expression pattern suggests that Doe-1R gene is a housekeeping gene,which is important to keep the function of tissues and organs.     

低分子肝素钙治疗过敏性紫癜及预防肾损害的作用

Objective To investigate the curative effect of low molecular heparin calcium on Henoch-Schoenlein purpura(HSP) and the preventive effect on Henoch-schonlein purpura nephritis.Methods One hundred and three patients with HSP were enrolled in the study and divided randomly into two groups,heparin group(57 cases) and control group(46 cases).Heparin group received low molecular heparin calcisymptom remission time,the incidence of recurrent skin rash were recorded.The contents of D-dipolymer and the three indicators of early renal damage were detected before and after the treatment.Results The remission times of purpura,joint pain and abdominal pain in heparin group[(15.23±3.14) d,(6.80±1.96) d and(6.68±3.42) d]were significantly shorter than those of control group[(17.11±4.79) d,(8.30±2.67)d,(8.59±4.09) d](P ＜0.05).The incidence of recurrent skin rash in heparin group(14.6%) was significantly lower than that of control group(39.1%)(P＜0.01).Compared to control group,the positive rate of D-dipolymer in heparin group was higher(15.8% vs 37.0%),and the urine levels of mALB,β2-MG and NAG were significantly decreased[(12.22±3.92) mg/L,(5.35±0.51) mg/L,(8.12±.65) U/L vs (14.15±5.17) mg/L,(6.54±2.67) mg/L,(10.04±2.60) U/L]during 3 months after treatment(P＜0.01,P ＜0.05).Conclusion Low molecular heparin can shorten the course of HSP and prevent the development of Henoch-Schonlein purpura nephritis.     

激光捕获显微切割细胞的全基因组DNA扩增

组织是多种细胞群体相互作用、相互依存的三维空间结构 ,这使得在相当长的一段时间内难以准确、深入地从分子水平研究某类特定细胞基因结构和功能的动态变化。肿瘤组织包括瘤细胞、其发源的正常细胞、淋巴细胞、血管内皮细胞、成纤维细胞等多种成分。在肿瘤分子病理学和基因组学研究中 ,排除非肿瘤细胞污染对实验结果的影响尤为重要[1] 。激光捕获显微切割 (ｌａｓｅｒｃａｐｔｕｒｅｍｉｃｒｏｄｉｓｓｅｃｔｉｏｎ ,ＬＣＭ)是在显微镜下从组织切片中分离、纯化单一类型细胞群或单个细胞的技术[2 ] 。它能有效地解除组织中细胞异质性造成的…     

低分子肝素钙治疗过敏性紫癜及预防肾损害的作用

Objective To investigate the curative effect of low molecular heparin calcium on Henoch-Schoenlein purpura(HSP) and the preventive effect on Henoch-schonlein purpura nephritis.Methods One hundred and three patients with HSP were enrolled in the study and divided randomly into two groups,heparin group(57 cases) and control group(46 cases).Heparin group received low molecular heparin calcisymptom remission time,the incidence of recurrent skin rash were recorded.The contents of D-dipolymer and the three indicators of early renal damage were detected before and after the treatment.Results The remission times of purpura,joint pain and abdominal pain in heparin group[(15.23±3.14) d,(6.80±1.96) d and(6.68±3.42) d]were significantly shorter than those of control group[(17.11±4.79) d,(8.30±2.67)d,(8.59±4.09) d](P ＜0.05).The incidence of recurrent skin rash in heparin group(14.6%) was significantly lower than that of control group(39.1%)(P＜0.01).Compared to control group,the positive rate of D-dipolymer in heparin group was higher(15.8% vs 37.0%),and the urine levels of mALB,β2-MG and NAG were significantly decreased[(12.22±3.92) mg/L,(5.35±0.51) mg/L,(8.12±.65) U/L vs (14.15±5.17) mg/L,(6.54±2.67) mg/L,(10.04±2.60) U/L]during 3 months after treatment(P＜0.01,P ＜0.05).Conclusion Low molecular heparin can shorten the course of HSP and prevent the development of Henoch-Schonlein purpura nephritis.