肺癌遗传易感性与基因多态性的研究进展

肺癌是对人类生命威胁最大的恶性肿瘤之一,发病率和死亡率在全球都呈上升趋势,全国第三次死因回顾调查报告显示,肺癌是我国居民第一位肿瘤死因,占恶性肿瘤分类构成22．7。肺癌死亡率在近30年上升了464．84％。     

脑梗死与基因多态性

目的：脑梗死是多因素共同作用的复杂的多基因遗传病，探讨脑梗死与基因多态性问的相关性。资料来源：应用计算机检索PubMed1 980—01／2005-03与脑梗死基因多态性相关文章，检索词“cerebral infarction，gene polymophysm”并限定文章语种为English。检索维普中文科技期刊全文数据库1989—01／2005-03期间的相关文章，并限定文章语种为中文，检索词“脑梗死，基因多态性”。资料选择：对资料进行初审，选取试验包含上述关键词的文献，然后开始查找全文。纳入标准：①临床试验，无论是否为单盲，双盲或非盲法。②试验包含正常对照组和脑梗死组。排除综述文献和Meta分析。资料提炼：共收集到符合主题的英文研究性文献65篇，其中55篇文献符合纳入标准；收集到中文文献113篇，28篇文献符合纳入标准。选择有代表性的19篇中、英文文献列入参考文献。资料综合：研究发现血管紧张索Ⅱ受体、血管紧张素转换酶、载脂蛋白E、纤维蛋白原、雌激素受体、纤溶酶原激活物抑制剂1的基因多态性与脑梗死相关。结论：脑梗死的发病和预后与多种因素有关，尽管基因多态性与脑梗死的相关性研究成果不尽一致，但对各种相关基因多态性的研究为脑梗死的防治提供了新的思路。     

有氧运动和1型糖尿病

目的：探讨运动和1型糖尿病的关系，对运动预防和治疗1型糖尿病的作用进行总结。 资料来源：网上检索Medline 1980-01／2005-12与运动和1型糖尿病关系相关的文献，检索词“type 1 diabetes，Exercise”，限定语言种类为“English”。 资料选择：出现了90条检索结果，经过初选，选择与运动和1型糖尿病密切关联的文章，排除观察对象为动物的文章，结果共42篇。 资料提炼：对42篇文章查找全文，经过分析，剔出重复及与主题关联度小的文章，总共选取其中23篇作为参考文献，其中14篇与胰岛素敏感性及血糖水平有关，9篇与心血管功能和体脂有关。 资料综合：运动是控制l型糖尿病的主要手段。有氧运动对1型糖尿病患者有多种作用，可以控制其血糖水平，但是否完全有效还不能确定。运动影响糖尿病的作用机制包括，有氧运动能够增加胰岛素敏感性，降低血压，改进脂质水平，降低体脂，改善心血管功能。长时间有氧运动可能会产生低血糖等风险，运动时应加以注意。 结论：有氧运动对预防和治疗1型糖尿病可以起一定的作用，但运动时应注意出现低血糖等风险。     

原发性骨质疏松症的候选基因多态性

目的：就近几年对原发性骨质疏松症有关致病基因研究进行总结。 资料来源：检索Medline 1998-01／2004-05关于原发性骨质疏松症与候选基因多态性的关系的相关文章，检索词为“osteoporosis，candidate gene，polymorphism，Vitamin D receptor gene，estrogen receptor gene，insulin-like growth factor gene，IL-6 gene，transforming growth factorbeta gene，calcitonin receptor gene，COLIA gene”，并限定文章语言种类为英文。 资料选择：对资料进行初审，选择关于原发性骨质疏松与基因多态性关系的文献，筛除明显缺少随机对照的实验研究，并对剩余文献开始查找全文，同时排除综述类文章和重复性研究。 资料提炼：共收集到符合条件的文献197篇，按候选基因与原发性骨质疏松相关性研究的新观点选择符合要求的文献27篇，排除的170篇文章，105篇为未随机研究或重复性研究，65篇为综述类文章。 资料综合：对所选取的文献内容进行总结，对候选基因在骨质疏松的病因学及发病机制方面的研究进行了概括和评价。众多的候选基因参与了对原发性骨质疏松的调控，目前虽无法明确影响骨质疏松的主要基因，但基因在原发性骨质疏松病因中的作用是肯定的，这种作用主要体现在对骨密度、骨量峰值等的影响。 结论：维生素D受体基因、雌激素受体基因、胰岛素样生长因子基因、白细胞介素6基因等候选基因的多态性与骨密度、骨量峰值、骨硬度指数、发生骨折的风险等相关，证明基因的多态性在原发性骨质疏松症病因中起决定作用。     

EB病毒BHRF1基因及其抑制细胞凋亡功能

BHRF1是EBV基因组中具有抑制细胞凋亡功能的基因片段，属Bcl-2基因家族，本文阐述了BHRFI基因及其蛋白产物的特征、表达和抑制凋亡功能，对其在EB病毒致病机理的认识及有关疾病的防治等方面的重大意义进行了分析。     

FOXK1基因的生物特性及其在肿瘤中的研究进展

叉头框K1（FOXK1）是近年来广受研究关注的FOX转录因子家族成员之一。越来越多的研究表明,FOXK1与生殖、神经和消化等多种系统的肿瘤密切相关,FOXK1可通过调节细胞周期、细胞自噬以及介导信号转导通路,参与各个系统肿瘤的发生发展,影响肿瘤侵袭、转移及患者的预后。FOXK1在各个系统肿瘤组织中的特异性表达及其作用机制的研究,为肿瘤的诊治提供了新方向。本文就FOXK1的基因特征、生物学功能及其与各系统肿瘤的关系进行综述并作展望。     

p27^kip1基因与瘤关系的研究进展

该对p27^kip1基因与肿瘤关系的研究进展进行阐述，为研究肿瘤发生、发展、诊断及治疗提供了一定的科学依据。     

肿瘤相关基因NET-1的研究进展

<正>NET-1基因是新近报道的肿瘤相关分子基因,与NET-2、NET-3、NET-4、NET-5、NET-6、NET-7总称为NET-X,属于四聚体超家族(TM4SF)的成员之一。在细胞的信号转导、调节、黏     

黏蛋白1在肿瘤中的研究进展

正黏蛋白(mucin)为大分子糖蛋白,包括分泌型及膜结合型两大类,主要由上皮细胞合成,少部分存在于造血细胞上。目前已有大量研究表明,黏蛋白对肿瘤的发生和发展至关重要。黏蛋白1 (mucin 1,MUC1)为膜结合型黏蛋白,在胃肠道、肝脏、胰腺、肺及乳腺等重要器官恶性肿瘤中异常表达和糖基化,参     

肿瘤转移相关基因TIAM1的研究进展

肿瘤转移是一个多步骤、多阶段、多途径,涉及多基因变化的一系列复杂过程,包括肿瘤细胞从原发灶脱落,侵入血管或淋巴管,迁移、黏附于适宜部位,诱导肿瘤血管形成,对抗宿主抗肿瘤免疫,最终在远处形成转移灶。现有资料表明:肿瘤转移的整个过程受许多特殊基因的调控,它们或被激活,或...     

缺血性肠病的诊治进展

缺血性肠病可分为急性肠系膜缺血(AMI)、慢性肠系膜缺血(CMI)及缺血性结肠炎(IC)。本病患者多有心血管相关的基础疾病史,有习惯性便秘或近期手术史。主要症状根据分型各有特点,AMI表现为无相应体征的剧烈上腹痛或脐周痛,合并心房颤动的器质性心脏病以及胃肠道排空障碍;CMI特点为频繁饭后腹痛、畏食及体质量下降;IC表现为左侧腹部突发性绞痛,多餐后加重,梗死坏疽后可有急性腹膜炎表现。实验室检查最多见为血白细胞增高及大便潜血实验阳性,D-二聚体升高可能对本病诊断有一定意义。腹部超声、X光、CT、MRI、肠镜、选择性血管造影在本病的诊断方面各有独特的作用。本病的诊断来源于对病因、病史、临床表现、实验室及辅助检查的综合判断。治疗分为内科治疗、介入治疗、外科手术治疗,各有其针对性及适应证。通过及时确定不同类型缺血性肠病的诊断,采取适宜的治疗方法,对改善患者的预后和降低病死率有重大意义。     

MR扩散加权成像在前列腺癌诊断中的应用进展

磁共振成像(MRI)已应用于前列腺癌(PCa)的诊断十多年。扩散加权成像(DWI)做为一种磁共振成像技术,可以在细胞水平提供定性和定量信息。 DWI在提高MRI诊断前列腺癌的精确性方面可能发展成一个强大的技术。在这篇文章中,我们将介绍DWI的原理及应用基础、临床应用、局限性及应用前景。     

Power,effects, confidence,and significance: An investigation of statistical practices in nursing research

Objectives

To (a) assess the statistical power of nursing research to detect small, medium, and large effect sizes; (b) estimate the experiment-wise Type I error rate in these studies; and (c) assess the extent to which (i) a priori power analyses, (ii) effect sizes (and interpretations thereof), and (iii) confidence intervals were reported.

Design

Statistical review.

Data sources

Papers published in the 2011 volumes of the 10 highest ranked nursing journals, based on their 5-year impact factors.

Review methods

Papers were assessed for statistical power, control of experiment-wise Type I error, reporting of a priori power analyses, reporting and interpretation of effect sizes, and reporting of confidence intervals. The analyses were based on 333 papers, from which 10,337 inferential statistics were identified.

Results

The median power to detect small, medium, and large effect sizes was .40 (interquartile range [IQR] = .24–.71), .98 (IQR = .85–1.00), and 1.00 (IQR = 1.00–1.00), respectively. The median experiment-wise Type I error rate was .54 (IQR = .26–.80). A priori power analyses were reported in 28% of papers. Effect sizes were routinely reported for Spearman's rank correlations (100% of papers in which this test was used), Poisson regressions (100%), odds ratios (100%), Kendall's tau correlations (100%), Pearson's correlations (99%), logistic regressions (98%), structural equation modelling/confirmatory factor analyses/path analyses (97%), and linear regressions (83%), but were reported less often for two-proportion z tests (50%), analyses of variance/analyses of covariance/multivariate analyses of variance (18%), t tests (8%), Wilcoxon's tests (8%), Chi-squared tests (8%), and Fisher's exact tests (7%), and not reported for sign tests, Friedman's tests, McNemar's tests, multi-level models, and Kruskal–Wallis tests. Effect sizes were infrequently interpreted. Confidence intervals were reported in 28% of papers.

Conclusion

The use, reporting, and interpretation of inferential statistics in nursing research need substantial improvement. Most importantly, researchers should abandon the misleading practice of interpreting the results from inferential tests based solely on whether they are statistically significant (or not) and, instead, focus on reporting and interpreting effect sizes, confidence intervals, and significance levels. Nursing researchers also need to conduct and report a priori power analyses, and to address the issue of Type I experiment-wise error inflation in their studies.     

Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria

BackgroundDyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by hyper‐ and hypo‐pigmented macules on the face, trunk, and extremities. The condition causes severe cosmetic problem which can lead to significant psychological distress to the patients and bear a negative impact on society. DUH is a condition with genetic heterogeneity. The SASH1 gene was recently identified as pathogenic genes in DUH patients.MethodsTwo families clinically diagnosed with dyschromatosis universalis hereditaria were enrolled. Whole‐exome sequencing combined with Sanger sequencing and bioinformatics analysis was performed in the probands. MutationTaster, CADD, SIFT, PolyPhen‐2, and LRT software, and The American College of Medical Genetics and Genomics Standards and Guidelines were employed to assess the pathogenicity of detected missense mutations. One hundred healthy unrelated Chinese individuals were used as controls. All participants signed an informed consent form.ResultsGenetic screening revealed a heterozygous SASH1 c.1547G>A (p.Ser516Asn) mutation for patients in family 1, and SASH1 c.1547G>T (p.Ser516Ile) for family 2. Both such de novo mutations are located in a highly conserved SLY domain in SASH1, have not been previously reported in any publication, and were not detected in any control databases.ConclusionsThe novel heterozygous mutations, SASH1 c.1547G>A and c.1547G>T, are likely responsible for the DUH phenotype in these two families. Our study expands the mutation spectrum of DUH. Whole‐exome sequencing showed its efficiency in the diagnostic of hereditary skin disorders.     

人生回顾疗法在癌症患者中应用的研究进展

人生回顾疗法对于癌症患者是一种有效的心理干预手段。本文从人生回顾疗法的概述、实施方法、实施人员的要求以及其在癌症患者中实施的注意事项等方面进行综述,以期为人生回顾疗法在癌症患者中的广泛应用提供临床参考,减轻癌症患者的不良情绪,提高其生活质量。     

CPS1基因与肿瘤关系的研究进展

氨甲酰磷酸合成酶1（CPS1）是催化尿素循环限速酶之一,主要在肝细胞和肠上皮细胞中表达,正常生理情况下其在清除体内代谢废物氨的过程中起重要作用。研究表明,CPS1基因与肝癌、肺癌、结直肠癌等多种恶性肿瘤关系密切,通过多种信号转导通路或影响嘧啶合成等途径影响细胞增殖、凋亡、迁移等细胞生物学行为,从而影响肿瘤的发生发展或患者的预后。因此,研究CPS1基因与肿瘤的关系,对恶性肿瘤早期诊治、预后评价等方面有重要意义。该文就CPS1基因与肿瘤的关系进行综述。     

On exploratory factor analysis: A review of recent evidence,an assessment of current practice,and recommendations for future use

Exploratory factor analysis (hereafter, factor analysis) is a complex statistical method that is integral to many fields of research. Using factor analysis requires researchers to make several decisions, each of which affects the solutions generated. In this paper, we focus on five major decisions that are made in conducting factor analysis: (i) establishing how large the sample needs to be, (ii) choosing between factor analysis and principal components analysis, (iii) determining the number of factors to retain, (iv) selecting a method of data extraction, and (v) deciding upon the methods of factor rotation. The purpose of this paper is threefold: (i) to review the literature with respect to these five decisions, (ii) to assess current practices in nursing research, and (iii) to offer recommendations for future use. The literature reviews illustrate that factor analysis remains a dynamic field of study, with recent research having practical implications for those who use this statistical method. The assessment was conducted on 54 factor analysis (and principal components analysis) solutions presented in the results sections of 28 papers published in the 2012 volumes of the 10 highest ranked nursing journals, based on their 5-year impact factors. The main findings from the assessment were that researchers commonly used (a) participants-to-items ratios for determining sample sizes (used for 43% of solutions), (b) principal components analysis (61%) rather than factor analysis (39%), (c) the eigenvalues greater than one rule and scree tests to decide upon the numbers of factors/components to retain (61% and 46%, respectively), (d) principal components analysis and unweighted least squares as methods of data extraction (61% and 19%, respectively), and (e) the Varimax method of rotation (44%). In general, well-established, but out-dated, heuristics and practices informed decision making with respect to the performance of factor analysis in nursing studies. Based on the findings from factor analysis research, it seems likely that the use of such methods may have had a material, adverse effect on the solutions generated. We offer recommendations for future practice with respect to each of the five decisions discussed in this paper.     

凋亡抑制基因Survivin的研究进展

肿瘤是严重危害人类健康的常见的重大疾病,机体对细胞的生长和分裂失去控制,细胞的增殖与凋亡调节失衡是肿瘤发生主要因素之一。细胞失控性异常增殖是肿瘤最突出的生物学特性。生存素(Survivin)作为近年来被发现的凋亡抑制蛋白(IAP)家族中的新成员,研究表明其细胞凋亡抑制效应最强,组织学表达具备肿瘤高度特异性,在抑制肿瘤细胞凋亡方面发挥重要作用。本文就Survivin的分子结构、生物学性能、与肿瘤发生发展的关系及其在肿瘤基因治疗中的作用作一综述。     

偏头痛的功能MRI研究进展

偏头痛是一种以疼痛反复发作为特点的慢性功能障碍性疾病。近年来学者应用功能MRI技术对偏头痛进行了大量研究,作者拟从偏头痛的疾病机制、静息态脑功能网络异常和中医针刺干预等三个方面对偏头痛的功能MRI研究进展进行综述。     

老年人心理衰老影响因素的研究进展

2000年的人口普查数据表明,我国已经进入“老龄化社会”,并且每年以800万的速度递增,根据联合国的人口统计数据,我国将在2025年前后进入“老龄社会”,65岁以上的老年人将占总人口的14％以上。一旦进入老年阶段,人的生理、心理以及社会等各个方面功能都会呈现不同程度的衰退,而相对于生理衰老的不可逆趋势,心理衰老是可以被调整。近年来国内外对老年人心理衰老的关注越来越多,本文对影响老年人心理衰老的相关因素进行综述,为延缓心理衰老过程,促进老年人心理健康而进行有的放矢地护理干预提供科学依据。