Comments on methods and results in: Sherman et al., "Segregation analysis of balanced pericentric inversions in pedigree data"

The analysis by Sherman et al. (1986), its basis and results have been examined. The analysis relies on general methods, which may give acceptable results under the special conditions considered by the authors, but will usually produce more or less misleading results. The program POINTER (Lalouel & Morton 1981) is shown to be based partly on a chain of irrelevant arguments for the actual context. The so-called "conventional ascertainment rules" (Morton et al. 1983) are shown to produce misleading results in cases where their assumptions are not satisfied. The mean risk for unbalanced offspring is underestimated because of an erroneous ascertainment correction. The segregation frequencies are found to be different in three national samples, contrary to the claim by Sherman et al. Only a small proportion of all information available in the data has been utilized. Alternative and more appropriate models, hypotheses and procedures have been suggested. The frequent use of packages with computer programmes of standard statistical procedures in nonstandard situations with data from collaborative studies in human cytogenetics is discussed.     

健康婴幼儿早期教育的效果及影响因素

目的:探讨健康足月婴幼儿早期教育(简称早教)的效果及其影响因素,为开展健康足月婴幼儿早教工作提供理论和实践依据.方法:以自愿来早教中心进行早教的健康足月婴幼儿52名为实验组.另选择与其基本条件相同的婴幼儿52名为对照组.实验组除进行早教的各项培训工作外,还于培训前和培训3、6、9个月后各测评发育商(DQ)1次,以评定早教的效果.对照组无早教,于入组时和9个月后各测评DQ 1次.结果:①实验组经培训9个月后,其DQ平均值提高21.9±13.6分,高于对照组观察9个月后DQ平均值提高分3.0±3.0,差异有统计学意义(t=9.757,P＜0.001).②实验组培训前DQ值有23例低于中等水平;培训后有27例高于中等水平,其中8例DQ≥130.③多元逐步回归分析结果表明,影响DQ增加的主要因素是完成家庭训练作业的程度(R2=0.57),其次是到早教中心训练的次数(R2=0.019),再次是性别(R2=0.016).结论:早教对健康足月婴幼儿的大脑发育、智能发展、运动发育具有显著效果,是提高婴幼儿DQ的有效措施.     

Gastrointestinal stromal tumours (GISTs) negative for KIT (CD117 antigen) immunoreactivity

Gastrointestinal stromal tumours (GISTs) are currently defined as mesenchymal tumours of the gastrointestinal tract that express KIT receptor tyrosine kinase. However, a small subgroup of tumours that fulfil the clinical and morphological criteria for GISTs lack KIT expression. So far, the biological features of these tumours have rarely been addressed. The present study describes seven gastrointestinal stromal neoplasms that presented clinicopathological features typical of GISTs but showed absence of CD117 expression as detected by immunohistochemistry. The tumours originated from the stomach (n = 5), duodenum (n = 1), and colon (n = 1), showing histologically either predominantly epithelioid (n = 3), mixed spindled and epithelioid (n = 2), or anaplastic/spindle cell (n = 2) type features. CD34 and alpha-smooth muscle actin (alpha-SMA) positivity was present in four and three tumours, respectively. Chromosomal analysis was performed in two cases, both showing losses of chromosomes 14, 22, and 1p, which is the characteristic feature of GISTs. Dual-colour interphase fluorescence in situ hybridization (FISH) analysis, utilizing chromosome 1p-, 14-, and 22-specific probes, revealed a similar cytogenetic profile in the remaining five tumour specimens. Mutational analysis of exons 9, 11, 13, and 17 of KIT, and exons 12 and 18 of PDGFRA was performed in all cases by denaturing high-pressure liquid chromatography (DHPLC) pre-screening, followed by direct sequencing. None of the tumours showed KIT mutant isoforms. Three tumours harboured PDGFRA exon 18 activating mutations; two were Asp --> Val(842) missense substitutions and one was a DIM842-844 amino acid deletion. KIT and PKC theta (protein activated in interstitial cells of Cajal and GISTs) expression was determined by western immunoblotting of the total cell lysates from three tumour biopsies. None of these three tumours expressed KIT, while all specimens showed expression of PKC theta protein. These findings indicate that there is a subgroup of KIT-negative GISTs that exhibit the same morphological, cytogenetic, and molecular features as KIT-positive tumours. While intragenic PDGFRA activating mutations are present in some of these tumours, the oncogenic events underlying the pathogenesis of the others remain unknown.     

大学生特殊完美主义量表的编制

目的:编制大学生特殊完美主义量表。方法:用探索性因素分析发展量表的初步理论结构,再用验证性因素分析证明理论结构的合理性和正确性,以此为基础编制了大学生特殊完美主义量表,并对正式问卷测量结果进行探索性因素分析和验证性因素分析。结果:探索性因素分析确定量表含5个因素,解释了总变异的57.54%;#系数、分半信度、重测信度分别为0.648～0.781,0.664～0.790,0.720～0.779;验证性因素分析显示拟合指数χ2/df,GFI,AGFI,NFI,NNFI,RMSEA,CFI,IFI分别为2.32,0.91,0.88,0.84,0.88,0.06,0.90,0.90。结论:该量表的信效度都达到了测量学的要求。     

内骨架一体化小腿假肢的生物力学研究

一体化假肢是以聚合物为材料从接受腔到假腿一体成型的新型下肢假肢，它比传统型假肢更经济、美观、轻便，具有较大的应用前景。目前的相关研究主要集中在设计与制作及少量的临床研究方面。由于一体化假肢与传统型假肢在结构上的差异，有必要对其进行应力分析。本研究的目的是开展内骨架一体化假肢的生物力学研究，本研究基于内骨架一体化小腿假肢的真实几何构型，建立三维有限元模型，计算该模型在模拟Heel OH步态时相的载荷作用下的应力分布；在保持该模型的几何形状不变的情况下，建立了三个不同壁面厚度的一体化小腿假肢的有限元模型，分析壁面厚度对一体化小腿假肢应力分布的影响；通过分别赋予模型四种不同高分子聚合物的材料力学特性值，分析不同材料的一体化假肢的应力分布特点；分别对模型施加与正常步态的五个典型时相对应的载荷，分析一体化小腿假肢在各步态时相的应力分布特点。本研究结果对一体化假肢设计有指导价值。     

Trabecular Shear Stresses Predict <Emphasis Type="Italic">In Vivo</Emphasis> Linear Microcrack Density but not Diffuse Damage in Human Vertebral Cancellous Bone

Linear microcracks and diffuse damage (staining over a broad region) are two types of microscopic damage known to occur in vivo in human vertebral trabecular bone. These damage types might be associated with vertebral failure. Using microcomputed tomography and finite element analysis for specimens of cancellous bone, we estimated the stresses in the trabeculae of human vertebral tissue for inferosuperior loading. Microdamage was quantified histologically. The density of in vivo linear microcracks was, but the diffuse damage area was not, related to the estimates of von Mises stress distribution in the tissue. In vivo linear microcrack density increased with increasing coefficient of variation of the trabecular von Mises stress and with increasing average trabecular von Mises stress generated per superoinferior apparent axial stress. Nonlinear increase in linear crack density, similar to the increase of the coefficient of variation of trabecular shear stresses, with decreasing bone stiffness and bone volume fraction suggests that damage may accumulate rather rapidly in diseases associated with low bone density due to the dramatic increase of shear stresses in the tissue. © 2003 Biomedical Engineering Society. PAC2003: 8719Rr, 8719Xx, 8759Ls, 8759Fm, 8710+e     

基于主成分分析-神经网络的非编码RNA预测

预测非编码RNA对认识其调控功能具有重要意义。选择单核苷酸和二核苷酸出现频率作为神经网络分类特征,运用主成分分析方法降低输入数据的维数,去除数据间的相关性,采用Levenberg-Marquardt算法改善网络训练速度。对数据集的测试结果表明,此方法对细菌混合ncRNA的预测精度达到81.3%,对原核生物tRNA的预测精度达到93.3%,表明该方法能有效预测原核生物ncRNA。预测结果还发现两种古细菌的ORF序列在序列特征上与其它细菌和古细菌存在差别。     

核素唾液腺显像的定量分析软件开发与应用

目的开发定量分析唾液腺功能及其图象显示的程序。方法应用Aladdin语言编写ROI模块提取各唾液腺及甲状腺区域的摄取数据及本底,用曲线函数生成各ROI的时间-放射性活度曲线,对曲线数据处理,计算唾液腺摄取、排泌指数等指标,然后把图象、曲线及计算结果显示在一个模板内。结果同一幅输出界面图可显示唾液腺的形态、ROI示意图、唾液腺的摄取与排泌功能数值及其曲线,以标准化的显示格式提供给临床医师。不同操作者处理同一资料的功能指标结果基本一致,软件计算的功能指数与图象显示结果及临床诊断基本相符。结论开发的唾液腺功能定量分析软件,程序运行稳定,结果重复性好。     

基因芯片筛选抗胸腺细胞血清性肾炎大鼠肾组织基因表达差异的初步研究

目的： 利用基因芯片检查大鼠系膜增生性肾炎，即抗胸腺细胞血清性肾炎(ATSN)模型大鼠发病 40 min 和 5 d 时肾组织相关基因的表达情况，探讨ATSN大鼠不同时相肾组织基因表达的差异并作功能分析。 方法： 用抗胸腺细胞抗血清（ATS）复制大鼠ATSN模型，抽提发病 40 min 和 5 d 时肾组织RNA，分别用逆转录合成荧光分子掺入的cDNA作探针进行基因芯片杂交。用Agilent 扫描仪扫描，Imagene软件读取数据，最后用Genespring进行normalize处理和差异表达基因的筛选。差异基因筛选标准为实验组/对照组比值（ratio）>或=2为上调基因，实验组/对照组ratio<或=0.5为下调基因。然后选取上调和下调基因登录GenBank查找其相关功能。 结果： 在 9 234 个大鼠基因中（去除质控基因），ATSN大鼠 40 min 时肾组织上调基因为341个，其中部分为凋亡相关的调控基因，部分为增生相关基因及一些与信号转导有关的基因；下调基因为392个，其中一些是酶类基因，部分为生长因子和细胞因子受体基因等，其余大多上调和下调基因功能不详。ATSN发病 5 d 时，肾组织上调基因是213个，包括增生相关基因、信号转导相关基因等；下调基因119个，其中部分为酶类和细胞因子相关基因。5 d 时上调和下调基因大多功能不清楚。 结论： 大鼠ATSN发病早期（40 min），致病相关基因已被激活（如凋亡和增生相关基因），其中相关信号转导分子基因也表达上调，而在ATSN大鼠发病 5 d 时，基因表达谱有所改变，其中涉及的基因多为增生相关基因和信号转导相关基因。