小儿神经系统遗传病的诊断

一、概述遗传性疾病(genetic disease)是由于遗传物质异常或由遗传因素决定的疾病,根据受累的遗传物质不同,遗传病分为:单基因病、多基因病、染色体病、线粒体病及体细胞遗传病等。在遗传病中80%累及神经系统,且绝大多数在小儿期起病,在国内报道较多的疾病有假肥大型肌营养不良     

大鼠肢体缺血再灌注后内皮素-1含量的变化及BQ-123的干预作用

①目的　探讨肢体缺血再灌注 (LIR)后内皮素 - 1 (ET - 1 )含量的变化及BQ - 1 2 3的干预作用。②方法　采用大鼠肢体缺血再灌注损伤模型 ,将Wistar大鼠随机分 8组 ,即 :对照组、单纯缺血组、再灌注 0 .5、2、4、6、1 0小时组与BQ - 1 2 3组 ,分别测定血浆LDH、CK活性、ET - 1水平及骨骼肌中MDA含量、ET - 1放免活性和组织湿 /干重比值。③结果　IR各组与对照组比较 ,血浆和骨骼肌的各项生化指标显著增高 (P <0 .0 1orP <0 .0 5) ;BQ - 1 2 3组与再灌注 4小时组比较 ,各项指标明显降低 (P <0 .0 1orP <0 .0 5)。④结论　ET - 1可能参与了肢体缺血再灌注损伤。BQ - 1 2 3可减轻肢体缺血再灌注损伤 ,对骨骼肌有保护作用。     

《实用美容整形外科杂志》（1999—2003年）载文分析

目的 探讨《实用美容整形外科杂志》的载文特点。方法 利用文献计量学方法统计1999～2003年出版的30期《实用美容整形外科杂志》的多项文献计量学指标。结果 5年的总载文量为975篇，总页数为1680页。有较为固定的十几个栏目，平均发表时滞为242．6天，平均基金论文比为0．05。合著的论文占总数的84．8％，平均论文作者合作度为3．26。作者分布在全国29个省、自治区或直辖市。工作在省市医院、医药院校附属医院和部队医院的作者较多。结论 《实用美容整形外科杂志》是以省市医院、医药院校附属医院和部队医院的中级以上职称的中青年作者为主要作者群的国家级美容整形外科专业核心期刊。     

炮震性听力损害与焦虑情绪的关系分析

目的探讨炮震性听力损害程度与焦虑情绪的关系.方法对100名新兵炮手实弹训练前后听力检查及心理问卷调查进行分析.结果有14名听力损害;18名有焦虑情绪阳性.结论炮震性听力损害者具有焦虑情绪明显高于无听力损害者.     

巴豆醛及其检测方法的研究进展

巴豆醛(CH3-CH=CHCHO,C4H6O)即丁烯醛,是一种重要的工业原料,用途十分广泛。其化学性质很活泼,对人体危害较大。国外,如美国已经建立了工作场所空气中巴豆醛的检测方法,我国还未建立其标准化检测方法;国内外对巴豆醛的生物检测方法研究很少;本文旨在通过对巴豆醛的全面了解,来探索有效的检测方法。1巴豆醛的理化性质巴豆醛为无色透明至淡黄色易燃液体,有窒息性刺激性气味。熔点-74℃,沸点104℃,蒸气压19mmHg(20℃),相对密度(d245)0.8495,蒸气相对密度2.41(空气=1);自燃温度232℃,爆炸范围2.1%~15.5%(体积);易溶于水,水中溶解度为181g/…     

颈动脉粥样硬化斑块内MCP-1表达的研究

目的观察颈动脉粥样硬化(AS)斑块内单核细胞趋化蛋白-1(MCP-1)的mRNA和抗原的表达情况。方法分别应用原位杂交和免疫组织化学法测定颈AS斑块中MCP-1mRNA和抗原表达。结果相对于正常动脉内膜,颈AS病变内膜MCP-1阳性细胞数明显增多(P<0.05)。其中颈AS严重病变肩区阳性细胞数最多,以单核-巨噬细胞为主。结论MCP-1与颈AS发生密切相关。     

Apopotic gene Bax expression in carotid plaque

The expression of BAX in carotid atherosclcrosis and its regulation is far from defined. Objectives To investigate BAX expression in stable/fibrous and instable/vulnerable carotid plaque and its clinical significance. Methods 25 cases of carotid plaque specimens obtained from endarterectomy were divided into two groups, stable/fibrous 14 cases, vulnerable/instable 11 cases; aortic artery and its branches from hepatic transplantation donors 6 case as control. The expression of proapoptotic BAX was detected by immunohistochemistry (IHC), in situ hybridization(ISH) and in situ TdT dUTP nick end labeling (TUNEL). Results 5 eases of BAX ( ) were detected by ICH and ISH, 4 case of TUNEL ( ) were detected by TUNEL in stable/fibrous carotid plaque, while 10 cases were BAX ( )by IHC(P<0.05) , 11 case by ISH and 9 case by TUNEL were detected in instable/vulnerable carotid plaque (P<0.01), respectively. The intensity of BAX ( ) cells by IHC and ISH was 8.63±2.62 and 10.32±3.12 in fibrous plaques, whereas 122±21.64 and 152±23.35 in vulnerable plaques, respectively. No expression of BAX was found in controlled group. Conclusion The higher expression of Bax in vulnerable carotid plaque may be one mechanisms in molecular pathogenesis of carotid atherosclerosis which affect plaque stability and be the cause of higher incidence of stroke than fibrous carotid plaques, the regulation of BAX expression in different stage of atherosclerosis may provide targets in gene therapy for carotid atherosclerosis.     

肥大细胞的浸润对胃癌生长转移的影响

OBJECTIVE: To investigate the relationship between mast cell infiltration and the development and metastasis of gastric carcinoma. METHODS: Alcian blue-Safranin O staining and image analysis system were employed to observe, classify and quantify the mast cells in 74 gastric carcinoma specimens. RESULTS: Mast cells resided predominantly in the marginal area of the tumor and most of them were mature type, active and capable of discharging granules into the cytoplasm. The mast cells in the marginal area of the tumor were significantly more numerous than those in the matrix of the tumor (P<0.01) and there was a positive correlation between them (r=0.303, P<0.01). The density of the mast cells was inversely correlated to the depth of tumor invasion and the number of lymph node metastasis. CONCLUSIONS: Mast cell infiltration in the matrix of the tumor plays an important role in preventing the invasion and metastasis of gastric carcinoma possibly by release of heparin and other bioactive substances. Mast cell quantity in the marginal area of the tumor may serve as an indicator for prognostic assessment of gastric carcinoma.     

活血化瘀中药联合血管内皮生长因子基因转移促进股骨头坏死处新生血管形成的实验研究

目的:观察活血化瘀中药联合血管内皮生长因子(VEGF)基因转移对促进股骨头缺血坏死处新生血管形成情况。方法:日本大耳兔40只,随机分为对照组、模型组、中药组、基因组和综合组。治疗8周后采用免疫组织化学方法观察股骨头滑膜VEGF阳性细胞率及数字减影血管造影股骨头血管数目改变情况。结果:模型组VEGF阳性细胞表达率减低,与对照组、基因组、综合组比较,差异有显著性意义(P<0.01),与中药组比较,有统计学差异(P<0.05),综合组VEGF阳性细胞表达率较高,与中药组及基因组比较,有统计学差异(P<0.05)。血管数目:在A区,各组与模型组比较,均无统计学差异;在B区,各组较模型组血管数目均有增加,对照组、基因组、综合组与模型组比较,有统计学差异(P<0.05)。综合组与基因组比较有统计学差异(P<0.05),中药组虽然血管数目较模型组多,但是无统计学意义。结论:活血化瘀中药及VEGF基因转移均可促进股骨头缺血坏死处局部新生血管形成和侧支循环的建立,尤以活血化瘀中药联合基因疗法效果为好,为临床应用活血化瘀中药联合基因疗法治疗股骨头缺血性坏死提供实验依据。     

中鼻道及其周围结构的解剖学观测

目的　探讨临床上经上颌窦口进入上颌窦诊疗的途径。方法　在 40例成人尸体颅矢状切面上 ,对中鼻道、半月裂孔、上颌窦口及其周围结构进行解剖学观测及上颌窦口的探针插入试验。结果　中鼻道、半月裂孔的长度分别为5 6.3 6± 2 .5 8mm、2 1.46± 1.79mm ;40例中 ,2 8侧 (70 .0 0 % )的上颌窦口位于半月裂孔的中 1/3部 ;12侧 (3 0 .0 0 % )的上颌窦口位于半月裂孔的后 1/3部。上颌窦口的形态不一。上颌窦口的前后径为 3 .14± 0 .47mm。上颌窦口距鼻腔底部、鼻小柱的距离分别为 3 0 .41± 2 .85mm、49.5 2± 2 .3 7mm。鼻小柱到上颌窦口与到鼻腔基底面连线的夹角为 40 .2± 3 .7°。 3 7侧 (92 .5 0 % )的上颌窦口能用直径≤ 2 .5mm的探针穿过。结论　经上颌窦自然开口行上颌窦口穿刺是安全、简便和有效的一种诊治方法。