De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia

The DYT1 gene recently has been cloned and shown to contain a three nucleotide (GAG) deletion responsible for most cases of autosomal dominant early-onset torsion dystonia. This deletion results in the loss of one of a pair of glutamic acids in a conserved region of a novel ATP-binding protein (torsinA). Previous haplotype analysis revealed that this same deletion had arisen at least two different times in history, suggesting independent mutational events. This deletion is the only sequence change found thus far to be associated uniquely with the disease status, regardless of ethnic origin. Here we describe two patients with typical early-onset torsion dystonia of Swiss-Mennonite and non-Jewish Russian origin, respectively, that both carry this same mutation as a de novo GAG deletion. This finding proves that this 3 bp deletion in the DYT1 gene is indeed a mutation that causes early-onset torsion dystonia. The DYT1 mutation is one of the rare examples of the same recurrent mutation causing a dominantly inherited condition. The sequence surrounding the GAG deletion contains an imperfect 24 bp tandem repeat, suggesting a possible mechanism for the high frequency of this mutation.      

内注电切外剥术治疗混合痔165例临床观察

为观察消痔灵注射加高频电刀内痔切除、外痔剥离术治疗混合痔的效果，对165例混合痔患者采用消痔灵注射加高频电刀内痔切除、外痔剥离术治疗。结果显示，治愈162例，显效2例，好转1例。疗程10～18d，平均14d。随访6～18个月，无复发。结果表明，该术式费用低，疗效明显，术后恢复快，疼痛轻，操作简便，易于掌握，适于临床推广应用。     

邯郸地区食管癌影响因素及居民相关知识态度调查分析

目的了解邯郸地区食管癌影响因素及健康居民知信行现状，为食管疾病的预防及针对性开展健康教育提供科学依据。方法采用调查问卷方法对邯郸地区60例食管癌患者和60名健康人群进行调查。采用方便抽样方法进行2组专题小组访谈。结果分析显示，食管癌患者中不良饮食习惯情况总体较健康人群重，新鲜果蔬食用情况总体较健康人群少。食管癌患者中14例有家族史，健康人群0例有家族史。50％以上健康居民对食管癌了解程度低下，希望加强相关知识学习。结论邯郸地区食管癌发生受多方面影响，健康居民食管健康知识了解程度低下。建议社会加强对居民预防食管疾病健康的教育指导。     

教学模式改革下高校图书馆期刊阅览室工作的转变

运用走访调查和工作实践总结的方法,指出高校期刊阅览室服务存在的问题,提出高校期刊阅览室应在服务理念和方式、馆藏结构、馆员整体素质等方面都做出相应的转变,以满足教学模式改革环境下高校教学和科研对情报信息的需求。     

经阴道子宫肌瘤剔除术57例临床分析

目的:探讨经阴道子宫肌瘤剔除术的临床价值.方法:选择57例有子宫肌瘤剔除术指征的患者,行经阴道子宫肌瘤剔除术作为研究组,选取64例经腹子宫肌瘤剔除术作为对照,分析比较两组的一般资料及围手术期临床特点.结果:研究组的手术时间短于对照组(P＜0.05),术中出血与对照组比较不增加(P＞0.05),术后肛门排气时间明显短于对...