Identification of low-frequency variants associated with gout and serum uric acid levels

We tested 16 million SNPs, identified through whole-genome sequencing of 457 Icelanders, for association with gout and serum uric acid levels. Genotypes were imputed into 41,675 chip-genotyped Icelanders and their relatives, for effective sample sizes of 968 individuals with gout and 15,506 individuals for whom serum uric acid measurements were available. We identified a low-frequency missense variant (c.1580C>G) in ALDH16A1 associated with gout (OR = 3.12, P = 1.5 × 10(-16), at-risk allele frequency = 0.019) and serum uric acid levels (effect = 0.36 s.d., P = 4.5 × 10(-21)). We confirmed the association with gout by performing Sanger sequencing on 6,017 Icelanders. The association with gout was stronger in males relative to females. We also found a second variant on chromosome 1 associated with gout (OR = 1.92, P = 0.046, at-risk allele frequency = 0.986) and serum uric acid levels (effect = 0.48 s.d., P = 4.5 × 10(-16)). This variant is close to a common variant previously associated with serum uric acid levels. This work illustrates how whole-genome sequencing data allow the detection of associations between low-frequency variants and complex traits.     

Asynchronous reproduction in three species of crocodilians in south-eastern Amazonia

We studied reproduction of three species of crocodilians, Paleosuchus trigonatus, Caiman crocodilus and Melanosuchus niger, in the Xingu River, near the Belo Monte hydroelectric dam. The periods of laying and hatching of eggs were estimated for each nest before (2013–2014) and after (2016–2017) the river was dammed and the reservoir was formed. Nesting of the three species occurred between August and December, but was largely asynchronous; nest construction peaked in September for P. trigonatus, October for M. niger and November for C. crocodilus. Reservoir filling had little effect on the laying period of any of the species. Nests of P. trigonatus and M. niger were always within 0–12 m of the bank, whereas nests of C. crocodilus, which nests later in the season when flooding is more likely, were up to 100 m from the nearest water body. There was no relationship between distance from water and the number of eggs in nests, suggesting that larger and presumably more experienced females do not lay at different distances from the bank in any of the species.     

木素对测量木素中残存糖分的影响

利用超滤和有机溶剂法提纯碱木素并使用水解法和澄清法制备糖分测量的样品,对比了3,5-二硝基水杨酸（DNS）比色法和高效液相色谱（HPLC）法测定木素内残余糖分。研究结果表明：DNS法测量木素中残留糖分的含量远大于HPLC法的测量值,木素中的醛基结构是造成显色法结果偏大的主要原因。     

形如xw的双边无限C∞字的组合

文[1]定理2给出了形如w xw的间隙为x（｜x｜≤4）的双边无限C∞字所确定的无限C∞字w恰有12个.文章在此研究定理2的逆问题,并完全确定了形如wxw的双边无限C∞字的间隙x的取值,其中w是由定理2确定的12个无限C∞字.     

在大功率应用时IGBT和IGCT的选择

在不同的应用领域，由于较大的功率和较高的频率冲击，对半导体器件的要求有很多情况下是矛盾的，因而单一器件无法解决这一矛盾。尽管过去和今后的器件类型很多，但今后的开关器件在600V以上的场合应用时，无外乎两三种：IGBT,IGCT和GTO。     

不同加载角下十字形柱的承载力与延性分析

采用Abaqus软件建立十字形柱的三维非线性有限元模型,分析了十字形柱在不同加栽角下的承载力与延性,计算结果与试验值符合良好,分析表明:在加载角为0°和45°时,承载力和延性都相差不大;加载角为45°时,承载力稍大;加载角为O°时,延性稍好.     

一种改进的VSLMS算法

根据几种变步长最小均方误差(VSLMS)算法的特性,把它们分为2类.把2类VSLMS算法的步长公式结合起来,提出一种改进的VSLMS算法.对改进前后的算法进行仿真实验,实验结果表明,改进算法同时获得了2类算法的优良性能,在收敛性、稳态误差及跟踪性方面都有显著提高.     

酶消化结合组织块培养法用于颞下颌关节盘组织工程细胞扩增的初步研究

目的采用酶消化结合组织块培养法对山羊颞下颌关节（temporomandibular joint，TMJ）盘细胞进行体外培养和扩增，探索TMJ关节盘细胞体外培养及扩增的新方法。方法在无菌条件下，切取一月龄山羊TMJ关节盘，剪至1．0mm^3的碎块，用0．25％胰酶、0．01％I型胶原酶消化关节盘组织块，将消化好的组织块置入6孔板中培养。在倒置显微镜下连续观察细胞的形态变化及贴壁率，甲苯胺蓝染色、I型胶原免疫组化染色进行细胞鉴定，测定其生长曲线。结果原代培养的关节盘纤维软骨细胞4天可观察到贴壁细胞，7天贴壁细胞逐渐增多，第10天时细胞彼此相连，铺满平底，细胞以梭形为主，部分多角形。传代后12小时贴壁率达90％，大部分为多角形，4～5天即可长满瓶底。甲苯胺蓝染色可见异染颗粒，胶原免疫纽化染色胞浆内可见棕黄色颗粒。结论酶消化结合组织块培养法培养的山羊TMJ关节盘细胞具有较强的增殖能力，可作为TMJ关节盘组织工程中获取大量原代细胞的实用方法。     

让历史重返自然——当代STS的本体论研究

从逻辑经验主义到社会建构的发展中,自然的历史性始终未能进入研究者的视野。认识论的鸡之争使拉图尔提出了广义对称性原则,这一原则使自然的历史性以一种全新的面貌再现,使STS走向了新自然辩证法的本体论研究,这种本体论表明客体之所以能成为科学的,是因为它是在辩证的实践过程中生成的;客观性与真理等一系列认识论范畴也不是对预先存在对象的表象性反映,也是在历史与时间进程中生成的东西;科学是一个人与物、自然与社会共同进化的过程。     

大学生“学习困难群体”的教育转化及对策

大学生中的"学习困难群体"是社会转型大背景下高等教育对象中出现的一类特殊群体,这一群体所产生的问题引起了社会各界的普遍关注。本文主要通过对这一群体出现的原因、外在表现以及对策等方面的分析,并从心理调适、教学改革、制度建设等三个方面入手,对这一群体进行教育转化进行了较为系统的阐述。