Molecular genetics of primary open angle glaucoma and exfoliation syndrome

Glaucoma is the second leading cause of blindness worldwide. It is a group of optic neuropathies, characterized by progressive optic nerve degeneration, excavation of the optic disc due to apoptosis of retinal ganglion cells and corresponding visual field defects. Open angle glaucoma (OAG) is a subtype of glaucoma, classified according to the age of onset into juvenile and adult- forms with a cut-off point of 40 years of age. The prevalence of OAG is 1-2% of the population over 40 years and increases with age. During the last decade several candidate loci and three candidate genes, myocilin (MYOC), optineurin (OPTN) and WD40-repeat 36 (WDR36), for OAG have been identified. Exfoliation syndrome (XFS), age, elevated intraocular pressure and genetic predisposition are known risk factors for OAG. XFS is characterized by accumulation of grayish scales of fibrillogranular extracellular material in the anterior segment of the eye. XFS is overall the most common identifiable cause of glaucoma (exfoliation glaucoma, XFG). In the past year, three single nucleotide polymorphisms (SNPs) on the lysyl oxidase like 1 (LOXL1) gene have been associated with XFS and XFG in several populations. This thesis describes the first molecular genetic studies of OAG and XFS/XFG in the Finnish population. The role of the MYOC and OPTN genes and fourteen candidate loci was investigated in eight Finnish glaucoma families. Both candidate genes and loci were excluded in families, further confirming the heterogeneous nature of OAG. To investigate the genetic basis of glaucoma in a large Finnish family with juvenile and adult onset OAG, we analysed the MYOC gene in family members. Glaucoma associated mutation (Thr377Met) was identified in the MYOC gene segregating with the disease in the family. This finding has great significance for the family and encourages investigating the MYOC gene also in other Finnish OAG families. In order to identify the genetic susceptibility loci for XFS, we carried out a genome-wide scan in the extended Finnish XFS family. This scan produced promising candidate locus on chromosomal region 18q12.1-21.33 and several additional putative susceptibility loci for XFS. This locus on chromosome 18 provides a solid starting point for the fine-scale mapping studies, which are needed to identify variants conferring susceptibility to XFS in the region. A case-control and family-based association study and family-based linkage study was performed to evaluate whether SNPs in the LOXL1 gene contain a risk for XFS, XFG or POAG in the Finnish patients. A significant association between the LOXL1 gene SNPs and XFS and XFG was confirmed in the Finnish population. However, no association was detected with POAG. Probably also other genetic and environmental factors are involved in the pathogenesis of XFS and XFG.

Oxidation of spiroketones with DDQ - synthesis of tropone derivatives and DDHQ diesters

Oxidation of spiroketones 3a–f with DDQ in dry benzene gave tropone derivatives 4a–f and DDHQ esters 5a–f (cis -cis isomer 6a–f, (cis -cis isomer 7a–f). While the aryl substituted spirokeone 17a gave a 2:1 mixture of 19a and the corresponding trans -trans isomer, the aryl substituted spiroketones 17b–d gave exclusively trans-trans isomers 19b–d. Heating acid chloride of acid 9c with DDHQ resulted in compounds 4a and 7a, thus confirming the structures assigned. Mechanism of formation of these compounds has been rationalised. A detailed study of 2D 1H-1H COSY, 1H-13C COSY, HMBC and 2D NOESY of compound 7d led to complete assignment of 1H and 13C NMR signals and its solution conformation.

带中心支板侧压进气道流场特性研究

应用表面油流和压力测量实验技术,辅助计算模拟手段,考察了两种不同形式的中心支板对侧压式进气道流场特性的影响.结果表明:进气道内部由于侧壁斜激波和支板诱发的斜激波的汇合引起了侧壁和顶板边界层的大尺度分离现象,使进气道性能受到了极大影响.后掠支板后移避免了支板和侧壁诱导斜激波的汇合,分离现象相对较弱,有利于进气道性能的提高;支板前掠可以提高流量捕获,但导致边界层分离加剧,对减少总压损失不利.

Broadband optical amplification in silicate glass-ceramic containing beta-Ga2O3 : Ni2+ nanocrystals

We demonstrate broadband optical amplification at 1.3 mu m in silicate glass-ceramics containing beta-Ga2O3:Ni2+ nanocrystals with 980 nm excitation for the first time. The optical gain efficiency is calculated to be about 0.283 cm(-1) when the excitation power is 1.12 W. The optical gain shows similar wavelength dependence to luminescence properties. (C) 2007 Optical Society of America.

Epitaxial growth of ZnO thin films on LiGaO2 substrates by pulsed-laser deposition

Lattice-matched (Delta(a/a) = 1.8-3.4%) (001) LiGaO2 substrates have been employed for the first time to grow ZnO thin films by pulsed-laser deposition at 350-650 degrees C with oxygen partial pressure of 20Pa. XRD shows that a highly c-axis-oriented ZnO film can be deposited on (001) LiGaO2 substrate at 500 degrees C. AFM images reveal the surfaces of as-deposited ZnO films are smooth and root-mean-square values are 6.662, 5.765 and 6.834 nm at 350, 500 and 650 degrees C, respectively. PL spectra indicate only near-band-edge UV emission appears in the curve of ZnO film deposited at 500 degrees C. The deep-level emission of ZnO film deposited at 650 degrees C probably results from Li diffusion into the film. All the results illustrate substrate temperature plays a pretty important role in obtaining ZnO film with a high quality on LiGaO2 substrate by pulsed-laser deposition. (c) 2006 Elsevier B.V. All rights reserved.

Abrigos para a infância no Brasil: por que, quando e como os espíritas entraram nessa história?

Este trabalho pretende realizar uma história cultural ou "arqueologia" dos abrigos espíritas para a infância no Brasil, construídos como verdadeiros"monumentos" da fé espírita, cuja materialização começa a ocorrer na segunda década do século XX, a partir de algumas iniciativas ou instituições que se tornaram pioneiras, tais como o Abrigo Thereza de Jesus, fundado em 1919 na cidade do Rio de Janeiro. Inspirados no lema "Fora da caridade não há salvação", um dos pilares do aspecto religioso do Espiritismo, os espíritas entram na milenar história das práticas de proteção à infância apenas na Idade Moderna. A doutrina espírita,procurando estabelecer, desde o seu "nascimento", a aliança entre Ciência e Religião, acaba adquirindo a feição de uma "religião moderna", reinvenção da tradição cristã em tempos de racionalismo e cientificismo. Entretanto, apesar da ênfase doutrinária no exercício da caridade individual e silenciosa como fundamento para a evolução espiritual, o movimento espírita acaba ampliando este sentido inicial presente nas obras de Allan Kardec, publicadas em Paris entre 1857 e 1869, tendo incorporado ou se apropriado de representações e práticas de caridade que foram desenvolvidas histórica e culturalmente dentro da tradição cristã mais antiga.

Chronic morphine selectively impairs cued fear extinction in rats: Implications for anxiety disorders associated with opiate use

Previous studies have shown that opioid transmission plays an important role in learning and memory. However, little is known about the course of opiate-associated learning and memory deficits after cessation of chronic opiate use in a behavioral animal m

应变补偿分布反馈量子级联激光器材料生长及器件性能研究

Submitted by zhangdi (zhangdi@red.semi.ac.cn) on 2009-04-13T11:45:31Z

大豆超氧岐化酶和品质因素相关性研究

本文进行了大豆种子超氧岐化酶和大豆品质因素（脂肪酸）之间的相关性研究。在这一研究中，我们使用了三种方法：1、HPLC分离测定脂肪酸的组成。2、用聚丙烯酰胺凝胶电泳研究同功酶。3、建立了自旋捕捉方法分析超氧岐化酶的活性。我们对二十四种大豆进行了研究：虎林野生大豆、公主岭野生大豆、秣食豆、黑豆、金元1号、满仓金、小金黄、东农4号、大白眉、早丰1号、十胜长叶、阿姆索、九农9号、黑河3号、绥农4号、黑农26号、吉林3号、合丰23号、哈76-6296、辽宁3号、吉林20、铁丰18、长农4号和EVANS、结果表明大豆种子SOD的比活力和其油脂含量呈极显著负相关；和亚麻酸含量呈极显著正相关；和油酸含量呈极显著负相关；和棕榈酸含量呈显著正相关；和亚油酸含量基本无关；和不饱和脂肪酸和为负相关。其直线回归方程分别为：Yoil = 27.72270-193.04800X比活力 Y18:3 = 3.64289 + 86.69367X比活力 Y18:1 = 31.42366 - 206.61395X比活力 Y16:0 = 9.03986 + 73.46336X比活力 只考虑栽培大豆，它们均未达到5％的显著水平。同功酶的研究结果表明，同功酶可分三个谱带区：A、B和C区，A区为MN-SOO、B、C区均为Cu、Zn-SOD。其中：虎林野生大豆、公主岭野生大豆，秣食豆、黑豆均有两条Mn-SOD同功酶谱带，其余二十个品种栽培大豆均有一条。吉林3号、吉林20的B区只有一条Cu、Zn-SOD同功酶谱带，其余二十二种大豆均有三条。C区都为三条Cu、Zn-SOD同功酶谱带。A、B和C区的百分量和大豆含油量、脂肪酸进行相关分析。结果表明，只有栽培大豆的A区和亚麻含量为显著负相关，其它均没达到5％的显著水平。其直线回归方程为：YA = 43.3277 - 2.5481 X18:3对用HPLC分离脂肪酸的文献方法进行了改进，由文献的1小时改进到每个样品十八分钟。并对二十四种大豆的脂肪酸组成进行了分离测定，结果发现，野生大豆、半栽培大豆和黑豆的亚麻酸含量高于栽培大豆。对光照核黄素体系，DMPO捕捉O_2:的机理进行了探讨。通过SOD抑制O_2~-的DMPO捕捉加合物DMPO－OOH的生成，建立了用自旋捕捉方法分析SOD的活性，并对二十四种大豆种子SOD的活性进行了分析，结果发现，野生大豆，半栽培大豆和黑豆的SOD比活力偏高。