Genotype of the cystic fibrosis population of the Hunter Region of New South Wales

Objective : To determine the genotype of patients attending the cystic fibrosis clinic at John Hunter Hospital, Newcastle, Australia.
Methodology : Seventy-five of the 76 patients attending the clinic over a 6 month period had blood collected for genetic analysis of 17 of the cystic fibrosis (CF) gene mutations.
Results : Sixty-one per cent of the patients were homozygous for the ΔF508 mutation and all except one child had at least one ΔF508 mutation.
Discussion : Nearly 80% of the CF genes were the ΔF508 mutation. This prevalence suggests that the obligatory false negative rate of a newborn screening programme for CF based on a combination of immunoreactive trypsin and the ΔF508 gene may be as low as 4-5%.     

TRIPS,the Doha Declaration and increasing access to medicines: policy options for Ghana

There are acute disparities in pharmaceutical access between developing and industrialized countries. Developing countries make up approximately 80% of the world's population but only represent approximately 20% of global pharmaceutical consumption. Among the many barriers to drug access are the potential consequences of the Trade Related Aspects of Intellectual Property Rights (TRIPS) Agreement. Many developing countries have recently modified their patent laws to conform to the TRIPS standards, given the 2005 deadline for developing countries. Safeguards to protect public health have been incorporated into the TRIPS Agreement; however, in practice governments may be reluctant to exercise such rights given concern about the international trade and political ramifications. The Doha Declaration and the recent Decision on the Implementation of Paragraph 6 of the Doha Declaration on the TRIPS Agreement and Public Health may provide more freedom for developing countries in using these safeguards. This paper focuses on Ghana, a developing country that recently changed its patent laws to conform to TRIPS standards. We examine Ghana's patent law changes in the context of the Doha Declaration and assess their meaning for access to drugs of its population. We discuss new and existing barriers, as well as possible solutions, to provide policy-makers with lessons learned from the Ghanaian experience.     

妊娠诱发先天异常输尿管结石梗阻1例

1病例报告女,26岁.因孕5 mo余,右腰腹部间断性疼痛3 d伴高烧,于2004-05-27急诊入本院泌尿外科.患者疼痛难忍,向右下腹放射,间歇性,无恶心呕吐,无尿急、尿频、尿痛,伴发热,体温最高可达40℃,既往无泌尿系患病史.查体: T 40℃,P 110次/min,BP 16/10 kPa,R 21次/min.痛苦面容,心肺正常,右肾区及右输尿管走行区扣击痛.     

阿司匹林与埃索美拉唑合用较氯吡格雷减少高危患者再次溃疡出血的发生

问题：在有阿司匹林诱发溃疡出血史的患者中，用氯毗格雷预防溃疡出血复发，是否不次于小剂量阿司匹林加埃索美拉唑？[编者按]     

新型缓释辅料甲壳胺的研究 Ⅱ甲壳胺对不同性质药物的适应性的研究

目的：考察甲壳胺对不同性质药物的适应性。方法：选择了盐酸麻黄碱,盐酸心得安,卡马西平,磺胺嘧啶,阿司匹林,法莫替丁,朴热息痛,潘生丁,茶碱,炎痛喜康,水杨酸等不同性质的１１种药物,以甲胺为阻滞剂,制备了缓释型骨架片溶出效果。结果：甲壳胺的缓释作用随药物碱性增强,分子量增大,溶解度降低而增强,结论：甲 胺对不同性质的药物均有一定缓释作用。     

Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly

Holoprosencephaly (HPE) is the most common brain anomaly in humans, involving abnormal formation and septation of the developing central nervous system. Among the heterogeneous causes of HPE, mutations in the Sonic Hedgehog (SHH) gene have been shown to result in an autosomal dominant form of the disorder. Here we describe a total of five different mutations in the processing domain encoded by exon 3 of SHH in familial and sporadic HPE. This is the first instance in humans where SHH mutations in the domain responsible for autocatalytic cleavage and cholesterol modification of the N-terminal signaling domain of the protein have been observed.      

Human chorionic gonadotrophin-beta gene sequences in women with disorders of HCG production

Women with recurrent abortion, primary unexplained infertility, and gestational trophoblastic neoplasia (GTN) manifest disordered human chorionic gonadotrophin (HCG) secretion. Mutations in the HCG beta/luteinizing hormone (LH) beta gene complex could cause aberrant HCG production in these disorders. The purpose of this study was to determine whether HCG beta gene deletions occur in women with recurrent abortion or primary unexplained infertility, and whether HCG beta gene duplications are present in women with GTN. DNA was extracted from 10 patients with unexplained recurrent abortion, 10 patients with unexplained primary infertility, 12 patients with GTN, three partners of women with GTN, and 30 controls. Southern blots were constructed and hybridized with DNA probes for HCG beta-5 and the LH beta gene. No gene deletions were identified in patients with recurrent abortion or primary unexplained infertility. Likewise, no gene duplications were identified in women with GTN. A previously described Mbol restriction fragment length polymorphism (RFLP) was identified in both patients and controls. A new Pstl RFLP was also characterized, but was present in patients and controls. Deletion/duplication mutations in the HCG beta/LH beta gene complex do not appear to be common causes of aberrant HCG production in humans with these disorders.