中国人D13S301位点的微卫星多态及其应用价值

率先在国内应用ＰＣＲ技术扩增Ｗｉｌｓｏｎ病（ＷＤ）基因内部Ｄ１３Ｓ３０１位点的微卫星多态，通过变性聚丙烯酰胺凝胶电泳检测扩增产物，对８０名正常中国人进行了检测，结果具有１２种不同长度的等位片段，多态信息含量（ＰＩＣ值）为０．８８３，表明该位点在中国人群中具有长度多态性及较高的应用价值。应用该位点对１０个ＷＤ家系进行连锁分析，在２４名无症状个体中检出１２名基因携带者，７名正常纯合子及２名症状前患者，进一步证实该位点可用于ＷＤ的症状前诊断及杂合子筛选。     

Protein kinase C agonist and antagonist effects in normal human epidermal keratinocytes

Abstract Several lines of evidence implicate protein kinase C (PKC) in the development of basal cell and squamous cell carcinomas, tumors which originate from epidermal keratinocytes. To examine PKC in a model relevant to human skin, we exposed normal human epidermal keratinocytes (NHEK) in serum-free media to a variety of PKC agonists and antagonists. NHEK PKC activity increased up to 10-fold within the 1st hour of exposure to tetradecanoyl phorbol acetate (TPA), and gradually returned to control values within 72 h. TPA-induced PKC activity was enhanced by pretreatment of cultures with protein and RNA synthesis inhibitors. TPA-induced growth arrest and differentiation was antagonized by staurosporine. Down-regulation by bryostatin pretreatment blocked TPA-stimulated differentiation. Our overall conclusion is that activation of PKC in cultured human keratinocytes is required for differentiation. These results are crucial to the analysis of compounds suspected of promoting or inhibiting epidermal tumors.     

汞对人体必需元素干扰的研究

对42例汞吸收、2例汞中毒者(尿汞>99.7nmol/L),采用原子吸收光谱法,检测了汞对人体必需五种金属元素代谢的干扰。研究发现,汞时人体必需元素镁、铜具有拮抗作用。汞吸收者血清镁极显著低于对照组(P>0.01)。经驱汞治疗后,血清镁、铜自然上升与对照组无统计学差异(P>0.05),镁离子低下,可出现神经肌纤维兴奋性增高。由此推测,汞引起肌肉震颤的毒理,可能由汞拮抗镁离子低下引起。设想,对汞中毒者采用补镁制剂治疗,是否具有驱汞作用值得探讨。     

妇科腹腔镜手术几种激光对兔子宫壁损伤的实验研究

为掌握妇科腹腔镜手术所应用的激光器的治疗剂量，对几种激光引起的兔子宫壁热损伤进行观察。实验研究证实：所有激光产生的损伤程度与所用的剂量呈正相关。术后４８ｈ与即刻损伤程度相比，半导体激光的损伤程度明显加深、加宽；但ＣＯ２激光和ＮｄＹＡＧ激光接触式光刀无显著变化。说明应用激光行妇科腹腔镜手术治疗时，所产生的损伤与应用的功率密度有关，为临床合理选用腹腔镜下的激光治疗提供依据     

恩施土家族人眼的表面形态特征

按随机抽样原则选择湖北恩施土家族人５９８名观测了眼的表面形态。该民族大部分人两眼位置适中，虹膜褐色，眼裂水平，开度中等，无蒙古褶，双睑；多为细窄眼型或中等眼型；眼的各径男大于女，一般存在性别差异；随年龄增加，眼型由中等型向细窄型转化，根据眼外形特征和聚类分析推测，土家人眼属于南、北方民族间的过渡型。     

腹部术后早期肠内营养支持的临床研究

为了研究手术后早期胃肠内营养支持的有效性及安全性，我们将腹部手术病人随机分为肠内与肠外营养两组。自术后第一天起给予等氮等热量的营养支持，持续8天。结果发现营养支持前后研究组病人前白蛋白、转铁蛋白水平较对照组明显升高且手术后第二日即达到正氮平衡，无明显的肝肾功能影响，消化道反应轻。认为术后早期营养支持是安全有效的。     

The updated electrostatic potential for cytosine completes the qualitative explanations of base alkylation regiochemistry

The relationship between the structures of different alkylatingagents and the relative extents to which they modify the oxygenand nitrogen centers of nucleic acid bases has been discussedin the literature from several points of view, although eacheffectively attributes the increasing preference for oxygenalkylation to the increasing importance of electrostatic interactionsbetween the reacting moieties. This is in direct contradictionto the published electrostatic potential data for cytosine whichindicate the most attractive potential to lie in the vicinityof the 3-nitrogen. However, we have discovered the latter tobe an artefact of the use of inadequate levels of theory. Whenthe electrostatic potentials of cytosine are computed usingmore sophisticated ab initio Hartree-Fock/6–31G^* calculationsthe global minimum does indeed lie in the vicinity of the O²-positionas required by the various rationalizations of the alkylationdata.     

缺血性脑血管病患者载脂蛋白B基因多态性与血脂关系探讨

应用聚合酶链反应（ＰＣＲ），检测了１０６例正常汉族人及５５例缺血性脑血管病（ＩＣＶＤ）病人的ａｐｏＢ基因ｘｂａⅠ酶切位点限制性片段长度多态性（ＲＦＬＰｓ）及其与血脂的关系。结果表明ＩＣＶＤ组ｘｂａⅠ酶切位点上Ｘ＋的等位基因频率明显高于正常对照组（Ｐ＜０．００５）；ＩＣＶＤ组中具Ｘ＋Ｘ－基因型者的血浆ＨＤＬ－Ｃ较Ｘ－Ｘ－基因型者明显降低（Ｐ＜０．０５），而ＬＰ（ａ）和ＴＣ明显增高（Ｐ＜０．０５～０．００５）。提示ａｐｏＢ基因多态分析结合血浆脂蛋白测定更能有效地检测ＩＣＶＤ易患人群。     

外周血及移植肾内嗜酸性粒细胞变化的临床意义

为了解移植肾在急性排斥时外周血和移植肾内嗜酸性粒细胞（ＥＯ）变化的意义，动态观察３１例同种异体肾脏移植病人的外周血和移植肾内ＥＯ的变化。结果发现在急性排斥反应时，移植肾内ＥＯ数＞２％者占８０．９％，明显高于肾功能稳定时，Ｐ＜０．０１；重度排斥中血ＥＯ数＞４％者占８２．６％，明显高于肾功能稳定时和中度以下排斥者，Ｐ＜０．０１。结果认为，测定移植肾内的ＥＯ变化可以做为监测急性排斥反应的可靠指标，外周血中的ＥＯ明显增多常提示排斥反应较为严重。     

儿科住院病人药物不良反应监测

通过4家医院儿科病人为期1年的药物不良反应协作监测，对1856例住院病人的药物不良反应进行前瞻性观察。发现107例发生了药物不良反应，发生率为5．8％。其中A型反应79例（73．8％），B型28例（26．2％）。药物不良反应致停药者48例，需处理者31例，致死者1例。因药物不良反应致住院者27例、不良反应发生率与庄院时间，共用药物数量，疾病构成有关。小儿某些生理特征对药物不良反应发生有显著影响。