A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia

Non-obstructive azoospermia (NOA) is one of the most severe forms of male infertility. Its pathophysiology is largely unknown, and few genetic influences have been defined. To identify common variants contributing to NOA in Han Chinese men, we performed a three-stage genome-wide association study of 2,927 individuals with NOA and 5,734 controls. The combined analyses identified significant (P < 5.0 × 10(-8)) associations between NOA risk and common variants near PRMT6 (rs12097821 at 1p13.3: odds ratio (OR) = 1.25, P = 5.7 × 10(-10)), PEX10 (rs2477686 at 1p36.32: OR = 1.39, P = 5.7 × 10(-12)) and SOX5 (rs10842262 at 12p12.1: OR = 1.23, P = 2.3 × 10(-9)). These findings implicate genetic variants at 1p13.3, 1p36.32 and 12p12.1 in the etiology of NOA in Han Chinese men.     

Exome sequencing of liver fluke-associated cholangiocarcinoma

Opisthorchis viverrini-related cholangiocarcinoma (CCA), a fatal bile duct cancer, is a major public health concern in areas endemic for this parasite. We report here whole-exome sequencing of eight O. viverrini-related tumors and matched normal tissue. We identified and validated 206 somatic mutations in 187 genes using Sanger sequencing and selected 15 genes for mutation prevalence screening in an additional 46 individuals with CCA (cases). In addition to the known cancer-related genes TP53 (mutated in 44.4% of cases), KRAS (16.7%) and SMAD4 (16.7%), we identified somatic mutations in 10 newly implicated genes in 14.8-3.7% of cases. These included inactivating mutations in MLL3 (in 14.8% of cases), ROBO2 (9.3%), RNF43 (9.3%) and PEG3 (5.6%), and activating mutations in the GNAS oncogene (9.3%). These genes have functions that can be broadly grouped into three biological classes: (i) deactivation of histone modifiers, (ii) activation of G protein signaling and (iii) loss of genome stability. This study provides insight into the mutational landscape contributing to O. viverrini-related CCA.     

开放式同行评议模式的介绍与思考

介绍了国外在这方面的最新研究成果和应用经验,同时结合国内科技界的情况,探讨了如何在我国进行开放式同行评议模式的实践,以便让科技评价研究和管理人员尽快了解、吸收该领域的前沿知识,并在此基础上进行更深入的研究与实践,进一步提高我国科技评价的质量。     

Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder

Transitional cell carcinoma (TCC) is the most common type of bladder cancer. Here we sequenced the exomes of nine individuals with TCC and screened all the somatically mutated genes in a prevalence set of 88 additional individuals with TCC with different tumor stages and grades. In our study, we discovered a variety of genes previously unknown to be mutated in TCC. Notably, we identified genetic aberrations of the chromatin remodeling genes (UTX, MLL-MLL3, CREBBP-EP300, NCOR1, ARID1A and CHD6) in 59% of our 97 subjects with TCC. Of these genes, we showed UTX to be altered substantially more frequently in tumors of low stages and grades, highlighting its potential role in the classification and diagnosis of bladder cancer. Our results provide an overview of the genetic basis of TCC and suggest that aberration of chromatin regulation might be a hallmark of bladder cancer.     

Optimal Switching Integrity Attacks on Sensors in Industrial Control Systems

In this article, an optimal switching integrity attack problem is investigated to study the response of feedback control systems under attack. The authors model the malicious attacks on sensors as additive norm bounded signals. The authors consider an attacker who is only capable of launching attacks to limited number of sensors once a time and changing the combinations of attacked sensors all over the time. The objective of this paper is to find the optimal switching sequence of these combinations and the optimal attack input. The authors solve this problem by transforming it into a traditional optimal control problem with new control variables vary continuously in the range [0, 1]. The optimal solutions of the new control variables are of bang-bang-type. Therefore, an algebraic switching condition and an optimal attack input can be obtained. Finally, numerical results are provided to illustrate the effectiveness of the methods.     

A Class of Second-Order Consensus Protocol in Multi-Agent Systems with Multiple Input Delays

This paper is concerned with the consensus problems for second-order multi-agent systems with multiple input delays. Different from all standard consensus algorithms with uniform delays, the authors aim to find the largest input-delay margin which can guarantee the consensus for the case when delays are nonuniform. Based on frequency domain analysis and matrix theory, an upper bound for maximum tolerable input-delay is given in terms of the relationship with scaling strengths and largest eigenvalue of the Lapalician matrix. Simulation results are provided to illustrate the obtained results.     

有阻尼多跨连续梁在横向激励下的响应

为研究有阻尼多跨连续梁在横向激励下的位移响应,采用整体分析的方法,在BernoulliEuler梁理论的基础上建立求解连续梁的横向振动方程,求得了有阻尼多跨连续梁的位移响应函数,同时求得了有阻尼条件下的固有频率方程和振型函数。     

灰色关联度在甜高粱材料筛选中的应用

对甘肃省兰州市榆中县中试基地种植的11种甜高粱材料进行试验,以筛选出适合在兰州榆中地区种植的甜高粱材料。采用灰色关联度对材料的茎干鲜重、生物产量、茎杆平均含糖量进行分析,同时参考株高、穗长、穗颈长、物候期等指标,选定适合榆中地区不同用途的甜高粱材料。灰色关联度分析结果:茎秆鲜重、生物产量、茎秆平均含糖量三个指标中,茎秆平均含糖量灰色关联度最大,对结果影响最大;灰色综合评判排序显示08-2、2043、09-1、雅津43号分别排列前4位。08-2、2043、09-1、雅津43号综合表现最好,适合兰州榆中地区种植,可用于饲料生产和生物质能源储备种植。     

2．4-6．0GHz超宽带低噪声放大器的设计

采用标准0．5μmGaAsPHEMT工艺设计了工作频段在2．4—6GHz可应用于无线局域网（WLAN）和超宽带（UWB）接收机的超宽带低噪声放大器。从宽带电路的选择、高频电路设计的器件选择和电路结构的选择等方面讨论了如何进行超宽带低噪声放大器的设计。结果表明,通过合适的电路结构和器件参数选择,可以采用0．5μmGaAsPHEMT工艺制备满足超宽带系统要求的低噪声放大器。在UWB3．1～5．15GHz低频带内,该LNA增益20．8～21．6dB,噪声系数低于0．9～1．1dB,输入输出驻波比均小于一10dB。在2．4～3GHz频带（涵盖802．11b／g的使用范围）内,该LNA增益20．8～21．5dB,噪声系数低于2dB,输入输出驻波比均小于-10dB。在频带5．2—6GHz,该LNA的噪声系数增大到1．332dB。增益则从21．4dB下降到19．7dB。电路的工作电压为3．3V。