Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

Thoracic aortic aneurysms and dissections are a main feature of connective tissue disorders, such as Marfan syndrome and Loeys-Dietz syndrome. We delineated a new syndrome presenting with aneurysms, dissections and tortuosity throughout the arterial tree in association with mild craniofacial features and skeletal and cutaneous anomalies. In contrast with other aneurysm syndromes, most of these affected individuals presented with early-onset osteoarthritis. We mapped the genetic locus to chromosome 15q22.2-24.2 and show that the disease is caused by mutations in SMAD3. This gene encodes a member of the TGF-β pathway that is essential for TGF-β signal transmission. SMAD3 mutations lead to increased aortic expression of several key players in the TGF-β pathway, including SMAD3. Molecular diagnosis will allow early and reliable identification of cases and relatives at risk for major cardiovascular complications. Our findings endorse the TGF-β pathway as the primary pharmacological target for the development of new treatments for aortic aneurysms and osteoarthritis.     

Fluctuation and response in biology

In 1905, Albert Einstein proposed that the forces that cause the random Brownian motion of a particle also underlie the resistance to macroscopic motion when a force is applied. This insight, of a coupling between fluctuation (stochastic behavior) and responsiveness (non-stochastic behavior), founded an important branch of physics. Here we argue that his insight may also be relevant for understanding evolved biological systems, and we present a ‘fluctuation–response relationship’ for biology. The relationship is consistent with the idea that biological systems are similarly canalized to stochastic, environmental, and genetic perturbations. It is also supported by in silico evolution experiments, and by the observation that ‘noisy’ gene expression is often both more responsive and more ‘evolvable’. More generally, we argue that in biology there is (and always has been) an important role for macroscopic theory that considers the general behavior of systems without concern for their intimate molecular details.     

基于非等量采样的伪码同步技术研究

针对数字通信系统中伪随机噪声(pseudo-random noise, PN)码同步技术的同步精度受限于采样间隔的问题,结合可变群时延的高精度同步思想,利用采样点位置偏移量的变化,推导出了非等量采样(non-commensurate sampling, NCS)下的PN码相关函数解析表达式,提出了基于精度因子的NCS率选取准则,通过精度因子可快速判断出NCS后PN码的同步精度下限。在此基础上,分析了码序列周期、接收机前端滤波器等附加因素对PN码同步精度的影响。对NCS率选取准则的研究,为优化数字通信系统设计提供了理论指导,达到以低硬件消耗实现高精度同步的目的。     

普通网络教育市场与价值链研究

普通网络教育包括基础网络教育、幼儿网络教育和在线职业与认证培训3类。利用价值链的基本原理,对普通网络教育的价值链进行了论述,重点阐述了价值链的组成环节、各环节功能、所需核心能力、主要参与者以及未来的发展趋势。     

形如1/2(a2n+1)的孤立数

设a是正整数,13≤a≤31,证明了1/2(a2n+1)(2(|)a)都是孤立数,这里n是任意的正整数.     

吕不韦与刘安相同命运解析

吕不韦、刘安分属不同的朝代,却有着十分相似的悲剧命运,究其原因,他们的悲剧在于他们与君主的政治主张、生活作风不同。     

Computer system reliability allocation method and supporting tool

This paper presents a computer system reliability allocation method that is based on the theory of statistic and Markovian chain, which can be used to allocate reliability to subsystem, to hybrid system and software modules. A relevant supporting tool built by us is introduced.     

Modeling and Experimental Study of PEM Fuel Cell Transient Response for Automotive Applications

This paper presents an analysis of the dynamic response of a low pressure proton exchange membrane (PEM) fuel cell stack to step changes in load, which are characteristic of automotive fuel cell system applications. The goal is a better understanding of the electrical and electrochemical processes when accounting for the characteristic cell voltage response during transients. The analysis and experiment are based on a low pressure 5 kW proton exchange membrane fuel cell (PEMFC) stack, which is similar to those used in several of Tsinghua's fuel cell buses. The experimental results provide an effective improvement reference for the power train control scheme of the fuel cell buses in Olympic demonstration in Beijing 2008.     

基于MATLAB与LabVIEW的信号处理分析与研究

针对MATLAB与LabVIEW软件的不同特性,提出利用编程实现和虚拟实验相结合的方式对信号进行处理,并以快速傅里叶变换FFT、信号的滤波,频谱分析为例,说明了这两种软件在信号处理中的特点及优劣性。通过实例表明采用MATLAB与LabVIEW两种软件可以实现动态演示和仿真分析的有机结合,从而可以提高信号处理的快捷性,直观性与可靠性。     

高压微雾在蒸发冷却空调机组中的应用

为了得到填料-高压微雾对组合式空调机组的降温效果,测试1台55 000m3/h风量的填料-高压微雾组合式空调机组.采用对比方法,将5种不同的测试的降温效果进行对比.实验数据表明,高压微雾和填料上采用三维布水相结合对空调机组的降温最为显著.从研究结果上看,高压微雾不仅是人们传统认识上的加湿器,还是一台良好的冷却器,能够对空气进行降温,满足一些场所降温的需要,具有广泛的应用范围.