神经根变异与特殊型椎间盘突出症

回顾5例由于神经根变异或特殊类型椎间盘突出引起的腰腿痛病人,对其病理及术中处理做了介绍,认为由于神经根的解剖变异,更容易受到椎间盘突出的卡压。手术中如临床症状符合椎间盘突出症,而预定探查间隙未发现突出物,或与临床症状不符者,应根据神经根激惹及松紧程度,扩大探查范围,查明造成疼痛的原因,避免二次手术。     

GREB1L基因突变致后天性单侧肾萎缩一例报道并文献复习

肾发育不良和肾发育不全（RAH）是先天性肾脏与尿路畸形（CAKUT）的主要表现之一,是导致儿童慢性肾脏病的重要原因。遗传因素与发病密切相关,随着全基因检测技术的发展,越来越多与RAH相关的基因突变被报道,GREB1L基因突变已被证实可导致RAH。本研究报道了1例后天性单侧肾萎缩GREB1L基因c.4688A>G杂合突变患儿,并复习相关文献。该患儿基因突变源自母亲,该变异为罕见变异,并且具有不完全外显特性,多种蛋白质危害预测软件预测该突变为有害变异。本文发现了新的GREB1L基因突变位点,可能拓展了与RAH相关的基因突变谱和临床谱。     

基于两样本孟德尔随机化方法探讨睡眠与痛风的关联

[目的] 通过两样本孟德尔随机化设计,探讨睡眠与痛风之间的关联。[方法] 从一项包含763 813名参与者的全基因组关联研究(genome-wide association study,GWAS)中获取痛风遗传关联数据。以与打鼾、睡眠时间、睡眠类型、失眠及白日困倦程度等睡眠表型相关的单核苷酸多态性(single nucleotide polymorphism,SNP)作为工具变量,采用逆方差加权(inverse variance weighted,IVW)评估遗传学预测的不同睡眠表型与痛风发生风险的关系。采用MR-Egger回归和孟德尔随机多态性残差和离群值(MR pleiotropy residual sum and outlier,MR-PRESSO)检验进行敏感性分析,以评估工具变量的多效性。进一步采用加权中位数法、简单中位数法、最大似然比法等分析方法检验结果的稳健性与可靠性。[结果] IVW结果显示,遗传学预测的打鼾[优势比(odds ratio,OR)=3.12,95%置信区间(confidence interval,CI)(1.21～8.05),PFDR=0.045]和失眠[OR=1.09,95%CI(1.04～1.15),PFDR=0.005]与痛风发生风险呈正相关,而睡眠时间、睡眠类型及白日困倦程度与痛风发生之间不存在统计学关联。MR-Egger回归提示上述因果关联未受到水平多效性影响,加权中位数法、简单中位数法、最大似然比法得出与IVW相似的结果。[结论] 打鼾、失眠与痛风发生风险呈正相关,纠正打鼾和失眠可能对痛风有一定的预防作用。     

The inheritance of microstructure variation in the song of four generations of Roller canaries

The microstructure of the calls and songs of four generations of Roller canaries was analyzed and compared. Many of the characteristics of the internal structure of the syllable show distributions in the progeny that suggest quantitative inheritance. The presence or absence of an underharmonic and the presence of a block underharmonic show a qualitative type of inheritance.     

Carcinoma of the alimentary canal — A statistical study based on autopsy data from 1928 to 1972

Summary An analysis of autopsy data shows that during the period 1928–1972 the relative frequency of carcinoma of the stomach has remained practically unchanged. A similar trend is apparant from the mortality statistics for Vienna from 1955 to 1972. Whereas for the lower and middle age groups there is a real decrease during the period 1928–1952, an opposite trend is visible for the highest age group. The stomach and the lower parts of the large intestine are the most frequent sites of carcinoma of the alimentary canal. The frequency distribution is explained on the basis of the contact hypothesis.     

Willis环形态与功能对照研究

目的：从不同角度分析Willis环的形态学变异及其功能状况。方法：分别采用脑尸解标本、血管铸型标本及动态血管造影资料进行Willis环的对比分析。结果：正常成人组尸体与活体Willis环分型无差异；活体正常组与活体病理组Willis环的比较有差异；活体正常组与活体病理组PCA供血类型有差异。结论：胎儿与成人、尸体与活体、静态与动态、正常与异常的有机结合能全面评价Willis环的形态学变异及其功能状况，为临床正确诊治脑血管病提供基础依据。     

Epitope specificity is critical for high and moderate avidity cytotoxic T lymphocytes associated with control of viral load and clinical disease in horses with equine infectious anemia virus

Equine infectious anemia virus (EIAV) is a lentivirus that causes persistent infections in horses. We hypothesized that high-avidity CTL specific for nonvariable epitopes might be associated with low viral load and minimal disease in EIAV-infected horses. To test this hypothesis, memory CTL (CTLm) responses were analyzed in two infected horses with high plasma viral loads and recurrent disease (progressors), and in two infected horses with low-to-undetectable viral loads and mild disease (nonprogressors). High-avidity CTLm in one progressor recognized an envelope gp90 epitope, and the data documented for the first time in EIAV that viral variation led to CTL escape. Each of the nonprogressors had high-to-moderate avidity CTLm directed against epitopes within Rev, including the nuclear export and nuclear localization domains. These results suggested that the epitope specificity of high- and moderate-avidity CTLm was an important determinant for disease outcome in the EIAV-infected horses examined.     

免疫透射比浊法测定血清免疫球蛋白

本文报道免疫透射比浊法测定血清免疫球蛋白,批内CV小于2.0％,批间CV小于3.5％,表明该法简便,快速,精密度和准确度高,重复性好。     

A computer-interfaced photometer and systematic spacing of duplicates to control within-plate enzyme-immunoassay variation

A Multiskan photometer for reading microtiter plate enzyme immunoassays was linked with a time sharing computer to facilitate control of assay variation and analysis of results. The interface that converted photometer output to RS-232-C format required changes to divide the output into segments short enough for input to the computer. To measure within-plate variation and investigate how the method of allocating sample duplicates to plate wells may affect the estimation of sample variance, uniformity tests were conducted with 47 plates. Coefficients of variation (CV) among wells within-plates ranged from 4.6 to 20.7% and in two-thirds of the plates exceeded 10%. Duplicates allocated to adjacent wells (method 1) gave consistently higher CV for sample means than duplicates allocated to opposite plate quadrants (method 2). In general, the CV by method 2 was about 30% smaller than that by method 1. Analysis of variance confirmed the effectiveness of the quadrant pattern of duplicate allocation as a method of controlling variation that arises from well position effects.