Why endophenotype development requires families

Endophenotypes are heritable quantitative traits that are associated with disease liability, can be measured in both affected and unaffected individuals, and provide much greater power to localize and identify risk genes for mental illness than does affection status alone. Traditionally, endophenotypic markers for psychiatric illnesses include in vivo neuroanatomic and functional magnetic resonance imaging measurements and indices of neurocognitive abilities. However, neurocognitive and neuroimaging measures are by no means the only classes of endophenotypes that could be useful for identifying genes for mental illness. Given the advantages of endophenotype-based strategies for elucidating the genetic underpinnings of psychiatric disorders, it would seem prudent to develop a wide range of putative endophenotypes. In order for a measure to be considered a valid endophenotype, it must meet a number of criteria. Specifically, the trait must (1) have moderate to high heritability, (2) be associated with the illness, (3) be independent of clinical state, and (4) impairment must co-segregate with the illness within a family, with non-affected family members showing impairment relative to the general population. While each of these criteria is critical, the heritability and co-segregation requirements are really what differentiate an endophenotype from a simple biomarker. At this time, one requires an experimental design that includes families to demonstrate both heritability and co-segregation. The assertion that novel endophenotypes can not be fully established without family data does not preclude work in unrelated individuals, rather that unrelated samples will only be able to nominate potential candidate endophenotypes that subsequently need to be confirmed in family-based experiments.     

骨性面神经管多层螺旋CT曲面重组测量与临床应用

目的 探讨多层螺旋CT曲面重组成像对面神经管的应用价值及其技术要点.方法 用GE lightspeed 16螺旋CT对23例病人行螺旋扫描,在工作站上行多平面重组及曲面重组,测量面神经管的总长度及迷路段、鼓室段、乳突段各段的长度、直径及第一膝、第二膝的角度.观察病变对面神经管的影响.结果 面神经管迷路段、鼓室段、乳突段及总长分别为5.58±0.74mm、10.11±0.79mm、12.47±1.01mm、28.73±1.07mm;面神经管各段管径分别为:膝状神经窝2.37±0.63mm、鼓室段1.03±0.16mm、乳突段1.57±0.31mm;面神经管第一、二弯曲角度分别为76.1°±4.65°、108°±11.38°.CPR可清晰显示病变段面神经管,显示率达81.8%.结论 多层螺旋CT曲面重组可在一幅图像上清晰显示双侧面神经管,对面神经管的解剖变异、先天畸形、外伤、慢性中耳炎并发症胆脂瘤累及面神经管提供有价值的信息.     

叶酸防治神经管缺陷效果的meta-分析

系统评价叶酸增补对神经管缺陷发生率的影响.方法:计算机检索MEDLINE、Embase、Cochrane Library、CBM、CNKI、VIP数据库中有关叶酸增补预防神经管缺陷的研究.由两位研究者按照纳入标准进行文献筛选、资料提取和质量评价后,采用RevMan5.0软件进行Meta分析.结果:共纳入15个研究,合计385916名研究对象,其中叶酸增补组198335名,对照组187881名.Meta分析结果显示两组差异有统计学意义,叶酸增补能降低神经管缺陷的发生率[ RR =0.34,95％CI(0.21,0.54)].结论:孕前叶酸增补能降低神经管缺陷的发生率.但由于本研究受发表偏倚的影响,仍需要进一步开展严格设计的随机双盲对照试验来加以验证.     

准爸爸可适量补充叶酸避免精子畸形

如果您制定好了怀孕计划,别忘了提前补充叶酸。叶酸是一种维生素,也是胎儿神经发育的关键营养素。孕妇若缺乏叶酸,可能增加新生儿神经管缺陷的风险(如导致无脑儿、脊柱裂等)。神经管是胎儿中枢神经的前身,随着怀孕天数的增加会逐渐形成大脑和脊髓。由于神经管的正常闭合发生在怀孕的初期,因此一般建议怀孕前     

530例先天性神经管畸形的显微外科治疗

通过分析530例先天性神经管畸形临床数据,评价了先天性神经管畸形显微外科治疗疗效。患者均行神经系统检查和MRI检查,并经显微外科手术治疗,术后疗效按显效、有效、无效和加重进行评定。结果显示,按Kirollos术中松解分级评定方法：518例（97.7%）达到1级,12例（2.2%）达到2级,0例（0.0%）为3级。手术近期疗效：显效112例（21.1%）,有效410例（77.4%）,无效6例（1.1%）,加重2例（0.3%）。由此得出结论：早期显微外科手术松解是治疗先天性神经管畸形有效的方法。     

过量维甲酸对小鼠胚胎神经管RhoA和Rac1表达的影响

目的:探讨过量维甲酸(RA)对小鼠胚胎神经管Rho A、Rac 1蛋白表达的影响.方法:应用免疫组织化学染色和图像分析方法检测Rho A、Rac 1蛋白的表达,分析在正常对照组和实验组小鼠胚胎神经管上皮的分布状况和表达水平的变化.结果:在各正常对照组和实验组,Rho A在神经管腔面、神经上皮细胞的细胞膜以及胞质均呈不同程度的阳性着色;比较有趣的是,在两侧神经褶靠拢的部位,Rho A的表达水平较神经管其它部位要强.统计学显示:Rho A在正常神经管的表达有时间依赖性;而且与正常对照组相比,其在实验组的表达水平明显高于正常对照组.在正常对照组,Rac 1的表达随着孕龄的增加在减弱;在各实验组,Rac1的表达都是阴性的.结论:过量RA会导致胚胎神经管Rho A和Rac1的表达异常,这两种蛋白与过量维甲酸致神经管畸形有关.     

神经工业设计在汽车产品设计中的应用

利用量表初步探索汽车与动物的隐喻关系,并通过神经工业设计方法对两者间隐喻关系进一步验证,得到消费者心理与生理两个维度数据。两者共同支持越野车与狮、虎的隐喻关系,为汽车产品设计者提供决策建议。     

Application of GIS-Based Spatial Filtering Method for Neural Tube Defects Disease Mapping

This study is to assess the prevalence rates spatial pattern of neural tube defects with geographic information system and spatial filtering technique. A total of 80 infants who diagnosed from neural tube defects in the area being studied between 1998 and 2001 were analyzed. Firstly, the geographic information system （GIS） software ArcGIS was used to map the crude prevalence rates. Secondly, the data were smoothed by the method of spatial filtering. We evaluated that the effect of changes in spatial filtering radius size was assessed by creating maps based on various filtering radius sizes. The 3 miles or larger filtering radius gives better section variability than the 2 and 2.5 miles or smaller ones. The maps produced by the spatial filtering technique indicate that prevalence rates in the villages in the southeastern region are to produce higher prevalence than that in the other regions. The smoothed maps based on Heshun County display a more adequate data representation than the raw prevalence rate map.     

山阴县神经管畸形流行特征及因素分析

目的探索神经管畸形在本地的流行特征及影响因素,以及开展“削峰”工程的成就.方法对1987-2006年的出生缺陷监测资料的相关数据,采用χ2检验进行统计分析.结果县乡两级医疗机构在1987-2006年间畸形发生率为（4.81±0.65）‰.结论①开展“削峰”工程,采取口服斯利安、进行B超早期诊断、实施孕产妇系统管理等措施,可使神经管畸形的形成和出生机会减少;②神经管畸形的发生率城镇低于农村,男性低于女性;③孕早期病毒感染的胎儿较易发生神经管畸形,孕妇被动吸烟是导致胎儿神经管畸形的原因之一.     

MSCT曲面重组在中耳炎面神经管裸露术前评价中的价值

目的探讨MSCT曲面重组在术前评价中耳炎面神经管裸露的诊断价值。方法术前行MSCT检查并经手术证实的中耳炎57例,常规行横断位、冠状位、斜位MPR重组,结合曲面重组显示、分析面神经管各段有无裸露及裸露范围,与手术所见比较。结果 MSCT诊断面神经管鼓室段有无裸露敏感度、特异度、准确度为67.6%、71.4%、81.2%;乳突段、前膝部、迷路段诊断准确度为100%。结论 MSCT曲面重组结合横断位、冠状位、斜位MPR观察对中耳炎致面神经管迷路段、前膝部、鼓室段、乳突段裸露诊断准确率高,鼓室段敏感度、特异度略低。术前评价面神经管裸露与否具有重要参考价值。