Carrier screening for Canavan disease in Australia

This study reports, for the first time, the carrier frequency of Canavan disease in the Ashkenazi Jewish population in Australia, and the identification of a novel mutation in the ASPA gene.     

The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: implications for the generality of U.S. population data

BACKGROUND: Several studies have shown that Ashkenazi Jews in the United States and Israel have a high prevalence of the founder mutations BRCA1 185delAG, BRCA1 5382insC, BRCA2 6174delT, and APC I1307K at frequencies of 1.0--1.1%, 0.2--0.3%, 0.6--1.4%, and 6.1--7.0%, respectively. The objective of this study was to compare the prevalence of these alleles in the Australian Jewish population with that of U.S. Jews. Australian Jews have a different history of migration, with less opportunity for changes in allele frequency due to conversion or intermarriage with non-Jewish Australians. The results obtained therefore can be used to assess whether U.S. data can be generalized to other Jewish populations. SUBJECTS AND METHODS. Subject samples were ascertained through a screening program for Tay-Sachs disease as part of a community-based screening program in New South Wales and Victoria. DNA extracted from 1200 deidentified blood samples was tested using amplification refractory mutation system polymerase chain reaction. RESULTS: The allele frequencies found were as follows: BRCA1 185delAG 1.25% (95% confidence interval [CI], 0.62--1.88%), BRCA1 5382insC 0.25% (95% CI, 0--0.53%), BRCA2 6174delT 1.08% (95% CI, 0.50--1.67%), and APC I1307K 8.67% (95% CI, 7.07--10.26%). The prevalence of breast carcinoma predisposition alleles therefore is greater than 2.5% in Australian Ashkenazim. CONCLUSIONS: There were no significant differences between the allele frequencies in Australian Ashkenazim and those identified in other studies with similar ascertainment strategies, despite the different migration patterns of Australian Jews. This suggests the broad applicability of the U.S. and Israeli data, not only to Australian Ashkenazim, but also to Ashkenazi communities throughout the world.     

慢性乙肝患者肝组织纤维化程度与HBV-DNA复制水平的相关性研究

目的:探讨HBV-DNA复制水平与肝纤维化之间的相关性。方法:对210例慢性乙型肝炎患者进行HBV-DNA和肝纤维化血清学标志透明质酸(HA)、层粘蛋白(LN)、III型前胶原(PCIII)、IV型胶原(IV-C)进行定量检测。应用SPSS10.0统计软件对结果数据进行分析处理。结果:随慢性乙肝临床类型的加重,肝纤维化血清学标志逐渐升高(P<0.01),而肝纤维化血清学标志与HBV复制水平呈正相关(P<0.05);结论:HBV复制水平与肝纤维化之间呈正相关。     

秦艽醇提取物抗炎镇痛作用的实验研究

目的:研究秦艽醇提取物的抗炎及镇痛作用。方法:采用二甲苯致小鼠耳廓肿胀,角叉菜胶致大鼠足趾肿胀及冰醋酸致小鼠扭体反应,观察秦艽醇提物的抗炎及镇痛作用。结果:秦艽醇提物能降低二甲苯炎症模型小鼠的耳廓肿胀度(P<0.01),对角叉菜胶模型大鼠的急性炎症有一定的抑制作用,从第3小时起足趾容积和肿胀度与模型组比较具有统计学意义(P<0.05),秦艽醇提物还能提高小鼠的痛阈,减少冰醋酸致小鼠扭体次数,与模型组比较具有统计学意义(P<0.05)。结论:秦艽醇提物对二甲苯及角叉菜胶所致的炎症具有一定的抑制作用,同时具有明显的镇痛作用。     

Percutaneous drainage access: a simplified coaxial technique

We describe an access technique that we have used in 150 nephrostomy and biliary drainage procedures and for access to some abscesses and viscera. The system provides safe coaxial access with a 22-gauge removable hub needle, which then acts as a guide wire and is replaced by an 18-gauge cannula. A major advantage is that only one guide wire is used (0.038-inch) for the entire drainage procedure. No significant complications have occurred to date with this method.     

反复种植失败的相关对策新进展

辅助生殖技术的迅速发展使众多不孕症患者借助体外受精-胚胎移植(IVF-ET)及其衍生技术获得了后代。然而很大一部分妇女经历多次优质胚胎移植亦不能获得妊娠,反复种植失败(RIF)已经成为阻碍妊娠率进一步提高的瓶颈问题,且日益受到生殖医学界的广泛关注。就目前的条件而言,对RIF患者给予药物或者机械操作以提高子宫内膜容受性,行宫腹腔镜检查排除宫腔及盆腔病变以改善胚胎种植环境,通过辅助孵化、选择性囊胚移植、植入前胚胎遗传学筛查、共培养等技术提高胚胎着床能力都有可能改善和提高其种植率及妊娠率。RIF成为了我们亟待解决的问题,现综述近年有关反复种植失败的相关对策新进展。