The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy

Hereditary inclusion body myopathy (HIBM; OMIM 600737) is a unique group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. The autosomal recessive form described in Jews of Persian descent is the HIBM prototype. This myopathy affects mainly leg muscles, but with an unusual distribution that spares the quadriceps. This particular pattern of weakness distribution, termed quadriceps-sparing myopathy (QSM), was later found in Jews originating from other Middle Eastern countries as well as in non-Jews. We previously localized the gene causing HIBM in Middle Eastern Jews on chromosome 9p12-13 (ref. 5) within a genomic interval of about 700 kb (ref. 6). Haplotype analysis around the HIBM gene region of 104 affected people from 47 Middle Eastern families indicates one unique ancestral founder chromosome in this community. By contrast, single non-Jewish families from India, Georgia (USA) and the Bahamas, with QSM and linkage to the same 9p12-13 region, show three distinct haplotypes. After excluding other potential candidate genes, we eventually identified mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) gene in the HIBM families: all patients from Middle Eastern descent shared a single homozygous missense mutation, whereas distinct compound heterozygotes were identified in affected individuals of families of other ethnic origins. Our findings indicate that GNE is the gene responsible for recessive HIBM.     

苯酚-硫酸法测定藏木香中多糖含量

采用传统的水煮醇沉法从藏木香中提取可溶性多糖,通过Sevag法脱蛋白后,以葡萄糖为对照品,使用苯酚-硫酸法测定多糖含量.结果表明,在波长486nm处测定吸光度,10-100μg/mL范围内吸光度与被测含量之间具有良好的线性关系,藏木香中多糖的含量为64.37%.     

Visualizing heavy fermions emerging in a quantum critical Kondo lattice

In solids containing elements with f orbitals, the interaction between f-electron spins and those of itinerant electrons leads to the development of low-energy fermionic excitations with a heavy effective mass. These excitations are fundamental to the appearance of unconventional superconductivity and non-Fermi-liquid behaviour observed in actinide- and lanthanide-based compounds. Here we use spectroscopic mapping with the scanning tunnelling microscope to detect the emergence of heavy excitations with lowering of temperature in a prototypical family of cerium-based heavy-fermion compounds. We demonstrate the sensitivity of the tunnelling process to the composite nature of these heavy quasiparticles, which arises from quantum entanglement of itinerant conduction and f electrons. Scattering and interference of the composite quasiparticles is used to resolve their energy-momentum structure and to extract their mass enhancement, which develops with decreasing temperature. The lifetime of the emergent heavy quasiparticles reveals signatures of enhanced scattering and their spectral lineshape shows evidence of energy-temperature scaling. These findings demonstrate that proximity to a quantum critical point results in critical damping of the emergent heavy excitation of our Kondo lattice system.     

甘青青兰挥发性成分GC/MS分析

目的：分离鉴定出甘青青兰（Dracocephalum tanguticum Maxim.）挥发油的化学成分.方法：用气相色谱-质谱（GC/MS）联用技术及峰面积归一化法测定各组分的相对含量.结果：共鉴定出23种化合物,占总色谱峰总面积的87.46%.结论：甘青青兰挥发油中的化学成分主要为[-]-反-松香芹乙酯和桉油精,两者分别占总挥发油中化学成分的60.30%和9.31%.     

钢管相贯口变参数变结构建库与数据提取方法研究

零件的批处理和零件库的建立是计算机辅助设计的重要内容之一，以钢管相贯口为例应用UG的几种建库方法，通过分析电子表格、零件族、GRIP编程在变参变结构的复杂零件建库时存在的问题，提出了一种将零件族和GRIP编程相结合的建库方法来建立变参变结构的复杂零件的零件库。     

带有时变时滞的中立型随机系统的鲁棒镇定和H_∞控制

研究了带有时变时滞的中立型随机系统的鲁棒镇定和H∞控制问题.利用Lyapunov泛函方法和It o^公式,基于状态反馈控制器,以线性矩阵不等式(LMI)形式给出了闭环系统鲁棒镇定及H∞控制的新方法.最后,数值算例说明了该方法的有效性.     

论竞技健美操技术创新的概念与分类

该研究以竞技健美操技术创新为研究对象,采用文献资料法、案例分析法,对查阅的文献和案例进行综合的归纳分析,在研究竞技健美操技术创新发展现状基础上,结合其他项目技术创新的特点,对竞技健美操技术创新的概念进行了阐述;对竞技健美操技术创新进行了系统的分类.