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。     

有机锗对环磷酸胺抗移植肝癌作用的影响

用有机锗（Ge－132）试验治疗荷移植肝癌小鼠。结果：De－132高剂量（12．5mg/次）治疗组的抑癌率为用31．0％，移植肝癌白细胞（WBC）浸润（＋＋＋）占72．7％、血清超氧化物歧化酶（SOD）活性为121Nu／ml，而生理盐水对照治疗组相应的后两项指标分别为用36．4％及81Nu／ml，两组比较有显著性差异（P＜0．05）；环磷酰胺（CTX）治疗组的抑癌率为37.0％，癌体WBC浸润（＋＋＋）为27.3％，血清SOD活性为102Nu／ml；ge-132高剂量与CTX2联合治疗组的抑癌率为45．0％，癌体WBC浸润（＋＋＋）为54．5％，血清SOD活性为142Nu/ml，两组比较，后二项指标有显著性差异（P＜0．05）。由此提示Ge-132高剂量能明显增强荷移植肝癌小鼠的细胞免疫及血清SOD活性，并有一定的抗移植肝癌作用。     

HPLC法测定盐酸美沙酮含量

本文采用高效液相色谱法，以盐酸布比卡因为内标，检测波长220nm，在Symmetry-C18柱上，以己腈-磷酸二氢钾（pH2．5）（3862，V／V）为流动相，测定盐酸美沙酮及其口服液的含量。方法平均回收率为100．17％，日内及日间的RSD均＜1％。方法简便、快速、准确。     

四氧嘧啶诱发糖尿病大鼠血管紧张素的变化

实验观察了四氧嘧啶诱发糖尿病大鼠连续饲养１１０ｄ后体内肾素一血管紧张素系统的变化。结果表明，血浆和心脏的血管紧张素Ⅱ含量无明显变化，而肾脏的ＡｎｇⅡ含量却明显低于正常对照组。另外，心脏的心钠素（ＡＮＰ）含量在糖尿病大鼠与正常对照组之间无差别，血中的糖化血红蛋白含量基本无变化。上述结果表明，糖尿病大鼠早期心脏可能无明显损伤，而肾脏的肾素一血管紧张素系统活性降低。     

Localised endosteal bone lysis in relation to the femoral components of cemented total hip arthroplasties

Four cases are described of localised endosteal bone lysis in the femur occurring in association with cemented femoral components that were not obviously 'loose' radiologically. In each, the area of lysis was shown at operation to be related directly to a region in which there was a local defect in the cement mantle surrounding the stem. Via the space between the stem and cement, such defects provide a route through which the contents of the joint cavity may reach the endosteal surface of the femur, subsequently leading to localised bone lysis, and later to frank loosening.     

人绒毛膜促性腺激素β亚基cDNA的克隆初步报告

用新鲜的人绒毛膜组织，抽提组织总ＲＮＡ并通过逆转录反应合成ｃＤＮＡ第一链。利用人工合成的一对寡核苷酸引物，采用ＰＣＲ技术特异性地扩增ｈＣＧ－β－ｃＤＮＡ。琼脂糖凝胶电泳结果显示扩增片段大小为５００ｂｐ，同预计的片段长度相符。将此片段利用Ｔ－Ａ载体克隆至ＰＣＲⅡ质粒上并进行全序列分析，结果显示克隆片段包含ｈＣＧ－βｃＤＮＡ５’端和３’端非编码区及完整的编码区。     

原发性小肠恶性肿瘤的CT诊断

本文回顾性分析３４例经病理证实的原发性小肠恶性肿瘤的ＣＴ表现。病变包括腺癌１６例，平滑肌肉瘤１２例，淋巴瘤６例。ＣＴ扫描能明确肿瘤向腔内和腔外侵犯的程度，清晰显示肿瘤与邻近结构的关系，有无局部及远处转移等，为临床治疗提供帮助。鉴别诊断应包括小肠良性肿瘤、炎性病变和转移性肿瘤等。     

Pharmacist involvement in a thyroid clinic

The patient-care activities of a pharmacist in a thyroid clinic are described. Since 1978 a pharmacist has been an active member of the staff of a thyroid clinic associated with a 500-bed university hospital. More than 1500 patients are referred to the clinic each year. The pharmacist initiates, maintains, or modifies the drug therapy of selected patients with physician-diagnosed thyroid disorders under the guidance of written protocols approved by the chief endocrinologist. Most patients treated by the pharmacist are receiving thyroid-suppression therapy, antithyroid drugs for Graves' disease, or thyroid hormone supplementation after surgery or after radioactive iodine therapy. The pharmacist assesses patients, prescribes medications, orders laboratory tests, charts visits and therapeutic plans, and educates patients about their conditions. Major changes in thyroid status and drug therapy are always discussed with the chief endocrinologist. The pharmacist also participates in educational programs to influence prescribing by physicians, provides drug information, serves as a preceptor to pharmacy students, and is investigating the equivalence of levothyroxine preparations in vivo and in vitro. An audit of patient outcomes showed that the pharmacist is highly effective in her role as a giver of direct patient care. A pharmacist's role in a thyroid clinic can consist of clinical practice, education, preceptorship, and research.     

胃癌D17S261和D17S799位点二核苷酸重复序列不稳定性的意义

目的研究二核苷酸重复序列不稳定性〔ＤＲＳＩ〕在胃癌发生中的作用及其临床意义．方法采用ＰＣＲ方法检测了Ｄ１７Ｓ２６１和Ｄ１７Ｓ７９９位点二核苷酸重复序列不稳定性．结果胃癌总ＤＲＳＩ发生率为３４％（１７／５０），其中高中分化腺癌ＤＲＳＩ阳性率（６６７％，１０／１５）显著高于低分化癌（１９４％，６／３１，Ｐ＜００１）；肠型胃癌ＤＲＳＩ阳性率（５５６％，１０／１８）显著高于胃型胃癌（２０％，６／３０，Ｐ＜００５），ＤＲＳＩ与胃癌部位、大小、浸润、分期、淋巴结转移无显著相关．结论ＤＲＳＩ在胃癌的发生中可能起重要作用．     

Epoxyalkanoyls as novel ACE inhibitors

The epoxyalkanoyl derivatives were designed and synthesized as ACE inhibitors. Coupling of unsaturated carboxylic acids with amino acids and following epoxidation with dimethyldioxirane gave the epoxyalkanoyls with high yield. The inhibitory activity of synthesized compounds on angiotensin converting enzyme was IC₅₀ values of 0.06≈5.5 μM.