Complex Transposon Insertion as a Novel Cause of Pompe Disease

Pompe disease (OMIM#232300) is an autosomal recessive lysosomal storage disorder caused by mutations in the GAA gene. According to public mutation databases, more than 679 pathogenic variants have been described in GAA, none of which are associated with mobile genetic elements. In this article, we report a novel molecular genetic cause of Pompe disease, which could be hardly detected using routine molecular genetic analysis. Whole genome sequencing followed by comprehensive functional analysis allowed us to discover and characterize a complex mobile genetic element insertion deep in the intron 15 of the GAA gene in a patient with infantile onset Pompe disease.     

超声变幅杆有限元谐振分析

对超声变幅杆的设计进行了理论分析,着重计算了指数形变幅杆的振幅放大系数、节点及应力极大点等参数。采用有限元软件ANSYS对变幅杆作了模态和谐振分析,得到的结果与理论结果比较,满足工程设计的需要。为超声变幅杆的设计和优化提供了新的途径。     

镍系BR的聚合终止行为

利用丁二烯溶液聚合过程的粒子碰撞原理和聚合理论,研究了镍系顺丁橡胶（ＮｉＢＲ）的聚合终止行为。结果表明,聚合不加终止剂即可自动终止。自动终止技术应用于生产后,优化了工艺,提高了ＮｉＢＲ的生产能力。     

掺硼浓度对金刚石薄膜微电极电化学氢化的影响

硼掺杂金刚石（BDD）具有高的析氧电位、低的背景电流等优异的电化学性能,但其电化学传感特性易受掺硼浓度影响。采用热丝化学气相沉积法在微细钨丝上沉积BDD薄膜,在不同沉积温度（700和800 ℃）下改变掺硼浓度而制备了系列BDD微电极,研究了掺硼浓度对BDD微电极表面电化学氢化的影响。同时,采用扫描电子显微镜、Raman光谱分析薄膜形貌和成分,采用循环伏安法在铁氰化钾溶液中检测薄膜的表面状态和电化学性能。结果表明：高温会促进薄膜中硼的掺入,降低了薄膜质量;随着薄膜中硼浓度的增加,原生BDD电极的表面状态和电化学性能改变不大,但是会降低BDD微电极从氧端基恢复到氢端基的难度。     

Kinetics of azo‐initiated 1‐vinyl‐2‐pyrrolidone polymerizations at low conversions in aqueous media

The free‐radical polymerization behavior of 1‐vinyl,2‐pyrrolidone (NVP) was studied at low conversions, using capillary dilatometry. The aqueous media were kept at neutral pH and the studies were conducted isothermally, at 40 or 45°C. The azo‐type initiators used were 4,4′‐azobis‐4‐cyanopentanoic acid (ACPA), 2,2′‐azobisisobutyronitrile (AZBN), and 2,2′‐azobis[2‐(2‐imidazolin‐2‐yl)propane dihydrochloride] (ABDH). The monomer concentration and initiator concentration ranges were 1.17–2.34 mol L⁻¹ and 1–8 mmol L⁻¹, respectively. The rates of polymerization (R_p) and orders of reaction with respect to NVP and the initiator were evaluated and the kinetic equations were found to be R_p ∝ [NVP] [ACPA]^1.2; R_p ∝ [NVP] [AZBN]^1.1; and R_p ∝ [NVP]^2.2 [ABDH]^1.1. The polymers obtained were characterized by their viscosity numbers and correlation of the viscosity average molecular weights made with the type and amount of the azo initiator. © 2000 John Wiley & Sons, Inc. J Appl Polym Sci 75: 239–246, 2000     

Ribosome Fate during Decoding of UGA-Sec Codons

Decoding of genetic information into polypeptides occurs during translation, generally following the codon assignment rules of the organism’s genetic code. However, recoding signals in certain mRNAs can overwrite the normal rules of translation. An exquisite example of this occurs during translation of selenoprotein mRNAs, wherein UGA codons are reassigned to encode for the 21st proteogenic amino acid, selenocysteine. In this review, we will examine what is known about the mechanisms of UGA recoding and discuss the fate of ribosomes that fail to incorporate selenocysteine.     

单分支线性约束循环程序的终止性分析

秩函数法是循环终止性分析的主要方法,秩函数的存在表明了循环程序是可终止的.针对单分支线性约束循环程序,提出一种方法对此类循环的终止性进行分析.基于增函数法向空间的计算,该方法将原程序空间上的秩函数计算问题归结为其子空间上的秩函数计算问题.实验结果表明,该方法能有效验证现有文献中大部分循环程序的终止性.     

水下脐带缆终端安装多浮体运动响应的数值模拟

在深水油气开发中,水下设施的海上安装越来越具有挑战性。尺寸和重量越来越大的水下设施需要在环境条件恶劣的深水海域安装,而海上安装作为最复杂的工况载荷之一,对其结构设计具有至关重要的影响。在海上施工之前进行充分合理的数值模拟能够获得适合的海况条件要求,也能对施工风险进行预判。以南海某深水气田为例,基于三维动态时域分析软件OrcaFlex,构造了水下脐带缆终端吊装下放的多浮体数值模型,在JONSWAP波浪谱下进行随机海况模拟分析,得出了最优作业浪向并给出了安全作业海况条件,对海上施工作业具有指导意义。     

带电旁路作业用插拔式快速电缆终端和接头

基于电场有限元数值计算和界面沿面放电试验研究结果,研制了优化绝缘结构设计的插拔式快速终端和接头,其应力锥的绝缘材料采用三元乙丙橡胶,外屏蔽为不锈钢。,终端和中间接头插拔配合的过盈值、复合界面压强值的理论计算值和按IEC、GB、Q/WLT等标准进行型式和补充试验的结果基本一致,寿命可达1000次。     

110 kV电缆终端头爆炸事故分析

为确定一110 kV电缆终端头爆炸事故原因,通过对事故情况调查、事故电缆终端头解剖、电缆和材料切片检查分析,认为电缆终端头预留的半导电层尺寸超过安装要求是电缆终端头爆炸事故的主要原因;最后提出了预防同类事故的相关建议。