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.     

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.     

Supplemental protein plus ruminally protected methionine and lysine for primiparous beef cattle consuming annual rye hay

Primiparous beef cows (n = 35 Bos taurus, average initial BW of 498 kg) were allotted to treatments in a split-plot designed experiment to determine the effects of supplemental ruminally protected amino acids on cow and calf productivity and metabolic changes in the cows. Cows were fed chopped annual rye hay at 1.5% of BW. The following treatments were used: 1) .8 kg soybean hulls, 1.4 kg ground corn, .6 kg soybean meal (CON); 2) 1.4 kg ground corn, 1.4 kg soybean meal (PRO); 3) PRO plus ruminally protected methionine and lysine (supplied 5 and 10 g, respectively; PRO1); and 4) PRO with twice the level of ruminally protected amino acids in PRO1 (PRO2). Cow weight gain was not different (P > .26) among treatments and averaged 1.2 kg/d for the 45 + 6 d before parturition. After parturition, cow weight gain did not differ (P > .47) between CON and PRO treatments, but it decreased quadratically (P < .01) with increasing level of ruminally protected amino acids. Total milk yield, protein, and fat (4 h) were greater (P < .05) for cows consuming PRO supplements than for CON, whereas CON cattle tended (P = .11) to lose less body condition. Total milk protein showed a quadratic increase (P < .05) in response to level of ruminally protected amino acids that was the inverse of the quadratic response noted for cow weight gain. Serum urea N concentration was greater (P = .07) for cattle consuming additional protein. Metabolic hormones were not affected (P > .18) by dietary treatment, but they responded (P < .05) to changes in physiological state. Supplements with additional protein supported greater (P = .0001) milk urea N concentration and output. Milk urea N concentration increased (P < .05) and milk IGF-I decreased (P < .05) as the lactation period progressed. The measurement of CON and PRO diets revealed that supplements with additional soybean meal had greater (P < .05) DM and N degradation; the extent of forage DM and NDF degradation was similar (P > .05) among treatments. Production shifted away from body weight gain to increased milk protein production when daily supplementation of ruminally protected methionine and lysine increased from 5 and 10 to 10 and 20 g, respectively. This shift in production was not reflective of changes in the metabolic regulators measured.     

分层介质动态力学性能的实验研究

采用Φ75mm分离式霍普金森压杆实验装置,对由普通混凝土与泡沫混凝土组合的分层介质的动态力学性能进行了研究。结果表明,应力波通过普通混凝土时的衰减仅为其原来峰值的5%~10%,应力波通过泡沫混凝土时其峰值衰减为原来的1/5。由此说明在含泡沫混凝土与普通混凝土的分层介质中,泡沫混凝土提供削波与延缓应力波作用时间的作用,普通混凝土则为其提供较高强度。通过对分层介质应力衰减和动量变化的分析表明,分层介质在动态力学行为上表现为较大的塑性和应变率相关性,其应力衰减主要取决于泡沫混凝土材料。     

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.     

激光电容半桥串联谐振充电电源研究

在重复率脉冲固体激光器中,由于储能电容需要频繁的充放电,通常采用谐振充电电路以适应其负载的大范围变化。为此研制了开关频率为20kHz,充电电流为2.1A,最高充电电压为1.86kV的半桥串联谐振充电电路。该电路工作于电流断续模式,开关管的开通和关断均为软开关。通过对周期电压、电流递推公式的分析,表明该工作模式中每个周期的平均充电电流均为恒定。应用递推公式计算稳态和暂态谐振电容电压和电流,结果显示暂态最大工作电压是稳态最大电压的2倍,暂态最大电流为稳态最大峰值电流的1.5倍,为谐振电容和开关管的选取提供了依据。