Goldenhar 综合征家系的临床表型和遗传学分析

目的分析1组Goldenhar综合征家系的临床表现及遗传学特征。方法我们随访到1组4代33人的Goldenhar综合征家系，对目前存活的29人进行了临床表型和遗传学的初步分析。结果家系内有Goldenhaar综合征患者5人．临床表现具高度多样性，累及眼、耳、脊柱、颜面、口腔等多个器官和系统的发育不良，在遗传方式上属于常染色体显性遗传。从细胞遗传学水平对家系中成员进行染色体检查，未发现核型异常。结论该Goldenhar综合征家系属常染色体显性遗传，染色体检查未发现核型异常。     

Immunoreactivity of sinusoids in hepatoblastoma: an immunohistochemical study using lectin UEA-1 and antibodies against endothelium-associated antigens, including CD34

Sinusoids are found not only in the normal liver but also in certain liver tumours, including hepatoblastoma, the most common malignant liver tumour in childhood. In this study, sinusoids in 12 hepatoblastomas, of various subtypes, and in normal liver were investigated with UEA-1 and antibodies against von Willebrand's factor, CD31 and CD34 to detect differences of possible diagnostic significance. In the normal liver, staining of sinusoids was seen with all these markers, but it was focal and confined to a few sinusoids near the portal tracts. In hepatoblastoma, the endothelial markers reacted with the sinusoids to varying extents. UEA-1 and anti-CD34 usually stained the majority of these vessels, anti-CD34 staining greater numbers of sinusoids and with greater intensity. Immunostaining revealed that both number and spatial organization of sinusoids in hepatoblastoma are dependent on the subtype. In addition to staining of endothelium, one of the two small cell hepatoblastomas exhibited strong immunoreactivity of the tumour cells for CD34. These findings show that the marked difference in sinusoidal immunoreactivity for CD34 between normal liver and hepatoblastoma could be useful for discriminating between non-neoplastic liver tissue and highly differentiated fetal hepatoblastoma. Our findings also show that small cell hepatoblastoma, in addition to acute leukaemia, should be considered when immunoreactivity for CD34 is found in small round and blue cell tumours in childhood.     

巯亚硝基血红蛋白在小鼠体内产生一氧化氮的作用

本文用Ｂａｌｂ／ｃ小鼠观察了巯亚硝基蛋白在体内产生一氧化氮的量效关系，结果发现，ＳＮＯ－Ｈｂ在体内可剂量信赖地产生ＮＯ。     

反相高效液相色谱法测定洛氟沙星的血药浓度

采用反相ＨＰＬＣ法测定洛氟沙星的血药浓度，血浆样品用二氯甲烷在ｐＨ７．０条件下提取后进样，流动相为１０ｍ ｍｏｌ／Ｌ磷酸二氢钾－１０ｍ ｍｏｌ／Ｌ溴化四丁铵－乙腈－三乙胺（４５：４４：１０：１，磷酸调节ｐＨ２．８），紫外检测器λ＝２９５ｎｍ，最低检测浓度１０μｇ／Ｌ，线性范围：０．１￣６．０ｍｇ／Ｌ，ｒ＝０．９９９９，日内ＲＳＤ为１．３８％￣３．４２％，日间ＲＳＤ为１．１１％￣２．８９％。     

多巴酚丁胺负荷超声心动图试验

对多巴酚丁胺负荷超声心动图试验诊断冠心病的理论基础、方法学及临床应用价值作一综述     

组织扩张术皮肤胶原的代谢改变

目的：研究常规扩张（ＩＴＥ）和持续快速扩张（ＣＴＥ）对皮肤胶原代谢的影响。方法用白色小家猪制作组织扩张术动物模型，用Ｇｏｒｄｅｌａｄｚｅ法测定血清和扩张组织的羟脯氨酸（ＨＰ）含量，藻酸盐印模材膜片法测量标记区面积；光镜测量真皮厚度。结果：ＩＴＥ组血清ＨＰ含量升高，０．８倍，ＣＴＥ组升高１．２倍，ＩＴＥ和ＣＴＥ组皮肤含量与正常皮肤相同，组织中ＨＰ总量均明显升高，持续扩张皮瓣组（ＣＴＥＦ）术后４ｗｋ皮     

长期居住海平面后藏族经受急性减压低氧时的体力活动能力

本研究从急性低氧对移居海平面后藏族的体力活动能力的影响来探索藏族的高原低氧适应机制。结果揭示藏族的最大体力负荷强度没有显著下降，最大氧耗和氧脉搏也没有明显变化，动脉血氧饱和度明显高于汉族，这更显示藏族对高原低氧适应机制有独特之处。推测可能是藏族在氧的摄取、传递和释放过程比汉族更有利于对高原低氧环境的适应。     

两种不同抗体双弹头标记物导向治疗肝癌的比较

在动物实验的基础上，比较了抗ＡＦＰ单克隆抗体（ｍＡｂ）和抗ＡＦＰ多克隆抗体（ｐＡｂ）两种不同抗体双弹头标记物在肝癌患者体内的生物代谢情况。结果显示，两种抗体标记物的血浆清除半衰期均在２４ｈ左右，ｍＡｂ标记物的清除较ｐＡｂ标记物略慢。尿清除的半衰期，ｍＡｂ标记物约为１２０ｈ，而ｐＡｂ标记物则约为１８ｈ，表明二者的体内生物代谢不同，疗效可能不一。     

Omega-3 fatty acid treatment fails to alter alpha 1-adrenergic receptor mediated phosphoinositide turnover in streptozotocin-induced diabetic rats

1. The effect of omega-3 fatty acid supplementation on alpha 1-adrenergic receptor-mediated phosphoinositide turnover in the hearts of 6-week streptozotocin diabetic rats was studied. 2. The diabetic state was characterized by decreased body weight gain, hypoinsulinemia and hyperglycemia. Omega-3 fatty acid treatment did not have any significant effects on the above parameters. 3. Plasma triglyceride and cholesterol levels were significantly higher in diabetic rats compared with controls. 4. Omega-3 fatty acid treatment reduced the plasma triglyceride levels in the diabetic rats, whereas plasma cholesterol levels remained unaffected. 5. Norepinephrine (10 and 100 microM) stimulated inositol monophosphate (IP1) formation was significantly decreased in the diabetic rat heart compared with controls. Omega-3 fatty acid treatment had no significant effect on the norepinephrine-mediated IP1 formation in these rats. 6. Inositol bisphosphate (IP2) formation in response to 100 microM of norepinephrine was significantly lower in the diabetic rat heart; which was also not affected by omega-3 fatty acid treatment.     

大鼠头颅瞬间侧向旋转后脑干水肿的形成及其超微形态学基础

目的：探讨头颅瞬间旋转后脑干水肿的形成及超微形态学基础。