Somatic mosaicism in a patient with neurofibromatosis type 1

Using loss of heterozygosity analysis, a method designed to detect moderate to large gene deletions, we have identified a new-mutation neurofibromatosis type 1 (NF1) patient who is somatically mosaic for a large maternally derived deletion in the NF1 gene region. The deletion extends at least from exon 4 near the 5' end of the gene to intron 39 near the 3' end. The gene-coding region is, therefore, mostly or entirely deleted, encompassing a loss of > or = 100 kb. We hypothesize that the deletion occurred at a relatively early developmental timepoint, since signs of NF1 in this patient are not confined to a specific body region, as seen in "segmental" NF, and since both mesodermally and ectodermally derived cells are affected. This report provides the first molecular evidence of somatic mosaicism in NF1 and, taken together with a recent report of germ-line mosaicism in NF1, adds credence to the concept that mosaicism plays an important role in phenotypic and genetic aspects of NF1 and may even be a relatively common phenomenon.     

基于Heritrix与Lucene的垂直搜索引擎研究

垂直搜索是针对某一个行业的专业搜索引擎,是搜索引擎的细分和延伸,是对网页库中的某类专门的信息进行一次整合,定向分字段抽取出需要的数据进行处理后再以某种形式返回给用户。该文结合使用Heritrix与Lucene对学校新闻网站网页进行抓取并建立索引,建立相对应的新闻垂直搜索引擎系统。     

Laparoscopic vs. open wedge biopsy of the liver

The number of people smoking free-base cocaine, or "crack," has increased dramatically in recent years. Concomitantly, the literature describing complications of such use has grown as well. Adverse pulmonary effects are being increasingly noted, such as respiratory symptoms, pulmonary hemorrhage, pulmonary edema, asthma, and pulmonary barotrauma. These and other pulmonary effects are reviewed.     

基于多元目标的主成分分析的热岛效应成因研究——以西安市为例

城市热岛效应作为城市化进程的负效应,其成因具有复杂性和地域性特征.以西安市为例,基于多元目标分析的主成分方法定量计算了不同影响因子对西安市热岛效应的贡献度大小,并以此为基础,最终筛选了城市人口、人均拥有道路面积、人均拥有机动车数、人均绿化面积、建成区面积、降水量及平均风速7个主要因素作为西安市热岛效应的主要成因;最后,从调整城市规划思路、控制工业热源、调控民用热源等三个方面为出发点构建了应对西安市热岛效应的宏观调控体系,其内容由3个一级指标、12个二级指标和5个三级指标构成.对应对和缓解西安市热岛效应具有积极的指导意义,也为其它城市应对热岛效应提供范式参考.     

Histochemical light microscopic study of catecholamine containing paraganglia in the human pelvis

Histological and histochemical techniques have been employed to determine the structure and autonomic innervation of paraganglia located in the human pelvis. In foetal and early postnatal tissues, paraganglia formed rounded cellular masses which were frequently in company with the autonomic nerves and ganglia of the urinary bladder and other pelvic viscera. The constituent cells contained only small amounts of cholinesterase and were unrelated to enzyme positive autonomic nerves; acetylcholinesterase containing nerves were occasionally observed in the capsule and the fibrous septa of the pelvic paraganglia. In early postnatal specimens, pelvic paraganglia frequently contained single or multiple "pacinian-like" corpuscles, each possessing a central region which was rich in both acetyl and pseudocholinesterase. These structures were rarely observed within autonomic ganglia and were absent 4 1/2 years post partum. By means of a histochemical technique, pelvic paraganglia were found to contain catecholamine which was attributed to the presence of relatively large quantities of noradrenaline. These observations have been discussed with particular reference to the results of other studies on the autonomic innervation of paraganglia.     

Choroidal neovascular membrane in Best's vitelliform macular dystrophy

The right eye of a 9-year-old white boy with Best's vitelliform macular dystrophy had an intact egg-yolk lesion and a retinal pigment epithelial defect superiorly, suggesting an early pseudohypopyon stage. The disruptive phase of the left eye showed subretinal hemorrhages, a "signet ring," and a subretinal neovascular membrane.     

PRACTICAL INCONSISTENCY MANAGEMENT FOR CRITICAL-TASKS DECISION-SUPPORT SYSTEMS

Abstract

In this paper, the problem of logical consistency in critical-tasks decision systems is addressed. It is shown how local search techniques can be used to check the (in)consistency of very large propositional knowledge bases (KBs). Using new heuristic findings. we can now implement efficient forms of diagnostic reasoning in the context of very large ICBs modeling deep models of complex devices and including patterns of default reasoning.     

商业项目集中餐饮区排油烟系统的设计与思考

本文以无锡某大型商场内餐饮集中区域的排油烟系统设计为依据,从餐饮区域的划分、餐饮招商过程、排油管道系统的设置、排油烟系统设备的选择及商业设施集中管理等开发商项目管理问题出发,介绍餐饮集中商业排油烟系统的设计、建设经验,以期为大型商场、商业街等饮食建筑的建设提供参考。     

我国电站锅炉热力计算方法应用的现状

在简单分析了原苏联锅炉热力计算标准与美国CE标准的区别之后,提出应对积灰系数ε、热有效系数ψ和利用系数ζ等3个系数有准确理解,指出系数的选取对锅炉热力计算准确程度的重要性及锅炉性能及安全性的重要影响,并介绍了传统的热力计算方法及多种改进方法,分析比较了各种计算方法的优点及不足之处;接着阐述了计算机在锅炉热力计算中发挥的作用和重要性,计算机技术在锅炉热力计算中的应用;最后指出了目前存在的问题及将来的发展方向.     

番茄红素菌体粉的安全毒理学评价

以三孢布拉氏霉为菌种,对其发酵制备的番茄红素菌体粉的经口急性毒性、遗传毒性及短期毒性等进行了研究。结果表明:番茄红素菌体粉经口最大耐受量(MTD)大于18g·kg-1,毒性分级为无毒级;Ames实验、小鼠骨髓细胞染色体畸变实验、小鼠精子畸形实验均表明番茄红素菌体粉无明显遗传毒性;30d短期喂养各组小鼠无异常症状,无死亡,其对小鼠的体重增长、血常规、血生化、脏器系数均无显著的影响。揭示了番茄红素菌体粉有较好的安全性,为番茄红素菌体粉直接应用成保健食品等提供理论依据。