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%.     

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]     

Conservation and variation in Orthopoxvirus genome structure.

Orthopoxvirus DNA from representative strains of rabbitpox, vaccinia, monkeypox, variola, cowpox and ectromelia viruses was analysed by cleavage with restriction endonucleases HindIII, XhoI or SmaI. Genome mol. wt. vary from about 120 x 10(6) for rabbitpox to about 145 x 10(6) for cowpox. Physical maps of cleavage sites are similar and characteristic for strains of the same Orthopoxvirus type. The distribution of HindIII sites suggests that an internal region of mol. wt. about 30 x 10(6) is highly conserved between Orthopoxvirus genomes although some type-specific differences occur within this region, especially with strains of ectromelia virus. Conservation of internal sequences is less marked following analysis with XhoI although cleavages within this central region of particular genomes appear to represent a subset of preferred sites. Endonuclease SmaI cleaves exceptionally infrequently and distinguishes variola, monkeypox, vaccinia, cowpox or ectromelia viruses. Type specific differences result largely from extensive, near terminal variations in length and sequence. Representative Orthopoxvirus genomes have rapidly renaturing terminal restriction fragments confirming the presence of near terminal, covalent cross-links. Terminal restriction fragments from the same or different genomes generally cross hybridize indicating the presence of near terminal repetitions of mol. wt. up to 6 x 10(6) and which share at least a subset of common sequences. Variola strains however, appear to lack such sequences from one specific terminus which maps shorter than that of related viruses.     

Trisomy 16鼠结肠和人先天性巨结肠蛋白基因产物9.5的表达

目的：研究Ｄｏｗｎ’ｓ 综合征动物模型ｔｒｉｓｏｍｙ １６ 结肠神经系发育和先天性巨结肠（ＨＤ） 病变肠管蛋白基因产物９－５（ｐｒｏｔｅｉｎ ｇｅｎｅ ｐｒｏｄｕｃｔ９ ．５ ,ＰＧＰ９－５） 的神经表达。方法：Ｔｒｉｓｏｍｙ １６ 鼠培育;细胞遗传学分析;Ｔｒｉｓｏｍｙ １６ 鼠结肠和ＨＤＰＧＰ９－５ 免疫组织化学。结果：（１）Ｔｒｉｓｏｍｙ １６ 鼠结肠神经系发育异常,肌间神经丛发育迟缓,粘膜下神经丛缺失,结肠末端有５ ｍｍ 的无神经节区,但结肠系膜神经发育良好;（２）ＨＤ狭窄段肠管ＰＧＰ９－５ 阳性神经纤维大量增生,神经节细胞缺如。结论：（１）Ｔｒｉｓｏｍｙ １６ 鼠具有稳定的遗传学特征,可能伴先天性巨结肠。（２） 由于ＨＤ 狭窄段肠管神经节细胞缺失,增生的ＰＧＰ９－５ 阳性神经纤维是肠道外源性神经的代偿,对其神经元的性质尚有待确定。（３）ＨＤ有遗传倾向