选择性头部亚低温治疗新生儿缺氧缺血性脑病安全性临床多中心研究

目的：尽管小规模的临床研究表明亚低温治疗新生儿缺氧缺血性脑病（hypoxic-ischemic，HIE）是安全的，但仍需大规模的临床多中心的研究进一步证明。本研究目的通过临床多中心研究观察选择性头部亚低温治疗新生儿HIE的安全性。方法：入选标准：生后6 h以内；胎龄 ≥36周，体重≥2 500 g；脐动脉血气分析 pH < 7.0或BE ≤-16 mmol·L-1或生后1 min Apgar评分 ≤ 3并持续到5 min仍然 ≤ 5；生后6 h内出现脑病的临床表现或EEG明显异常。排除标准：严重先天性疾病、合并感染、其他原因导致颅内损伤、严重贫血（Hb < 120 g·L-1）。从2002年5月- 2006年2月共收集246例不同严重程度的新生儿HIE，随机分为治疗组（低温治疗）134例和对照组112例。低温组和常温组各失访17例和12例，故有效病例共217例（低温组117例，对照组100例）。低温组生后6 h内开始选择性头部亚低温治疗，维持鼻咽部温度（34±0.2）℃℃，肛温维持在35℃以上,持续72 h，然后自然复温。常温组维持肛温在36～37.5oC。两组均进行心电、血压、经皮氧饱和度、鼻咽部温度和肛温监测。发现心率失常者进行EEG检测。观察主要不良反应包括：死亡率、严重心律失常、静脉血栓或出血、难以纠正的低血压。低温组72 h时检测肝、肾功能和血常规、血电解质、血糖及血气分析。观察可能出现的其他不良反应。结果：低温组和常温组的死亡率分别为17.9％和25％(P＝0.20)，死亡原因中两组均以重度脑病(低温组和对照组分别为：6.8%和7%，P＝0.96)和呼吸衰竭(低温组和对照组分别为：6.8%和6%，P＝0.8)为主；对照组有1例患者出现室性心律失常和DIC；低温组发生DIC和消化道出血患者各1例；两组均未出现难以纠正的严重低血压和大静脉血栓。低温组和常温组发生严重不良反应的概率分别为 1.7％和2％（P＝1.0）。低温治疗期间心率降低，但仅有4例(3.4%)患儿心率低于80次/分钟；两组之间血压、肝及肾功能、电介质、血生化、血气分析及血常规的变化均无显著性差异。结论：选择性头部亚低温结合全身轻度低温72 h治疗足月新生儿HIE是可行的和安全的。     

The role of prothrombotic mutations in patients with Buerger's disease

Thromboangiitis obliterans (TAO), or Buerger's disease, is a segmental occlusive inflammatory disorder of the arteries and veins, and etiopathogenesis is still obscure. In the present study we investigated the prevalence of prothrombin 20210 G-->A, factor V 1691 G-->A (Factor V Leiden), and factor V 4070 A-->G (His 1299 Arg) mutations, found to be associated with increased risk for vascular thrombosis, in 36 patients with TAO. We performed a case-control study of these mutations. The odds ratio for prothrombin 20210 A allele compared with G allele was 7.98 (95% confidence intervals 2. 45-25.93). Only this prothrombotic genetic factor was associated with the risk of TAO (p=0.032). In conclusion, carrying the prothrombin 20210 G-->A may be an important prothrombotic risk factor of TAO. This genetic predisposition must be screened in these patients routinely, and clinical importance must be supported by further investigations.     

A prevalence study of primary dystonia in eight European countries

There have been few epidemiological studies of dystonia. Most previous studies have provided estimates based on few cases. A European prevalence study was undertaken to provide more precise rates of dystonia by pooling data from eight European countries. Diagnosed cases were ascertained by adult neurologists with specialist movement disorders (and botulinum toxin) clinics. The crude annual period prevalence rate (1996–1997) for primary dystonia was 152 per million (95% confidence interval 142–162), with focal dystonia having the highest rate of 117 per million (108–126). Prevalence rates for cervical dystonia, blepharospasm and writer's cramp were as follows: 57 (95% confidence interval 51–63), 36 (31–41), and 14 (11–17). The age-adjusted relative rates were significantly higher in women than in men for segmental and focus dystonias with the exception of writer's cramp. Comparing rates between centres demonstrated significant variations for cervical dystonia, blepharospasm and writer's cramp, probably due to methodological differences. Our results provide the first data on the prevalence of primary dystonia and its subtypes across several European countries. Due to under-ascertainment of cases, our rates should be seen as conservative and an under-estimate of the true prevalence of dystonia. Received: 1 November 1999 / Received in revised form: 27 April 2000 / Accepted: 28 May 2000     

756例反复自然流产患者的染色体核型分析

目的探讨外周血染色体数目和结构异常与死胎、畸形、反复自然流产的关系, 为产前检查和预防流产提供科学根据。方法对武汉市东西湖区妇幼保健院和武钢总医院妇产科门诊1990 年1 月至2003 年8 月就诊的756例反复自然流产患者外周血做淋巴细胞培养, 进行染色体核型分析。结果　756 例患者共检出异常核型27例。其中, 平衡易位10例、罗伯逊易位4例、9 号臂间倒位6 例、嵌合体6 例、Yq 1 例; 其中女性17 例,占异常核型62 .96%; 男性10例, 占异常核型37 .04%。结论染色体核型异常是导致死胎、畸形、习惯性流产的重要原因之一; 进行细胞学遗传学染色体检查, 有助于这类夫妇的生育指导。     

青海省省直机关家属院高血压现患调查及危险因素分析

目的 :探讨我省高血压的流行趋势及主要危险因素 ,为制定我省高血压防治对策提供科学依据。方法 :采用随机抽样的方法 ,对省委、省政府家属院 35岁以上常住居民 14 92人 ,进行高血压患病情况及主要危险因素的流行病学调查。结果 :高血压患病人数为 4 96人 ,患病率为 33.2 4 %。其中新发现高血压 2 80人 ,占总高血压患病人数的 5 6 .4 5 %。男女性别有极显著性差异 (X2 =2 8.13P <0 .0 0 0 1) ,且随年龄增加高血压患病率上升的趋势。结论 :省直机关家属院高血压患病率较高 ,主要危险因素有吸烟、饮酒、体重指数的增加、家族吏、文化程度以及盐的摄入量等。对危险因素有针对性地进行防治 ,提高全民的自我保健意识和能力 ,达到预防和控制高血压的目的。     

胎儿肝脏静脉导管的形态学观测分析

目的解剖观测胎儿肝脏静脉导管的形态。方法选择4-10月胎儿肝脏44例,暴露静脉导管,观察形态,测量其长度,近心端、远心端和中间压扁直径,并分组进行处理。结果静脉导管长度,近心端、远心端和中间压扁直径,4-6月分别为0.88±0.28cm,0.44±0.13cm,0.38±0.12cm,0.32±0.14cm;7-10月分别为1.22±0.28cm,0.56±0.14cm,0.48±0.15cm,0.41±0.09cm;合计平均为1.06±0.32cm,0.50±0.15cm,0.43±0.14cm,0.37±0.12cm。结论静脉导管长度和直径随胎龄增大而增大;静脉导管为中间细两端稍粗的管道,近心端最粗,远心端次之,而中间直径最细。     

A novel approach for rapid screening of mitochondrial D310 polymorphism

Background  

Mutations in the mitochondrial DNA (mtDNA) have been reported in a wide variety of human neoplasms. A polynucleotide tract extending from 303 to 315 nucleotide positions (D310) within the non-coding region of mtDNA has been identified as a mutational hotspot of primary tumors. This region consists of two polycytosine stretches interrupted by a thymidine nucleotide. The number of cytosines at the first and second stretches are 7 and 5 respectively, according to the GeneBank sequence. The first stretch exhibits a polymorphic length variation (6-C to 9-C) among individuals and has been investigated in many cancer types. Large-scale studies are needed to clarify the relationship between cytosine number and cancer development/progression. However, time and money consuming methods such as radioactivity-based gel electrophoresis and sequencing, are not appropriate for the determination of this polymorphism for large case-control studies. In this study, we conducted a rapid RFLP analysis using a restriction enzyme, BsaXI, for the single step simple determination of 7-C carriers at the first stretch in D310 region.