tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. Our findings point to RNA processing as a new basic cellular impairment in neurological disorders.     

Aging behavior of a copper-bearing high-strength low-carbon steel

The effects of aging temperature and time on the hardness and impact toughness of a copper-bearing high-strength low-carbon steel were investigated. The hardness of the aged samples reached maxima after 1 h and 5 h of aging at 500 and 450℃, respectively; this increase in hardness was followed by a decrease in hardness until a temperature of 700℃, at which secondary hardening was observed. The impact toughness of the aged steel was found to be higher for 5 h of aging. Transmission electron microscopy confirmed the presence of carbide and copper precipitates; also, the secondary hardening could be the result of the transformation of austenite (formed in the aging treatment) to martensite. Differential scanning calorimetry of the steel was performed to better understand the precipitation behavior. The results revealed that the precipitation of the steel exhibited two significant stages of copper precipitate nucleation and coarsening of the precipitates, with corresponding activation energies of 49 and 238 kJ·mol-1, respectively.     

Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1

Although thoracic aortic aneurysms and dissections (TAAD) can be inherited as a single-gene disorder, the genetic predisposition in the majority of affected people is poorly understood. In a multistage genome-wide association study (GWAS), we compared 765 individuals who had sporadic TAAD (STAAD) with 874 controls and identified common SNPs at a 15q21.1 locus that were associated with STAAD, with odds ratios of 1.6-1.8 that achieved genome-wide significance. We followed up 107 SNPs associated with STAAD with P < 1 × 10(-5) in the region, in two separate STAAD cohorts. The associated SNPs fall into a large region of linkage disequilibrium encompassing FBN1, which encodes fibrillin-1. FBN1 mutations cause Marfan syndrome, whose major cardiovascular complication is TAAD. This study shows that common genetic variants at 15q21.1 that probably act via FBN1 are associated with STAAD, suggesting a common pathogenesis of aortic disease in Marfan syndrome and STAAD.     

Synthesis of a NiTi_2–AlNi–Al_2O_3 nanocomposite by mechanical alloying and heat treatment of Al–TiO_2–NiO

The aim of the present study was to investigate the phases formed during ball milling of Al–TiO_2–NiO. For this purpose, a mixture of Al–TiO_2–NiO with a molar ratio of 6:1:1 was used. Characterization of the milled powders by X-ray diffraction, differential thermal analysis, field-emission scanning electron microscopy, and transmission electron microscopy showed the formation of nanocrystalline NiTi_2 along with AlNi. A thermodynamical investigation confirmed that NiO was reduced by Al during ball milling, which consequently promoted TiO_2 reduction and the formation of NiTi_2. Al is capable of reducing NiO either during ball milling or at temperatures above the melting point of Al; by contrast, TiO_2 can be reduced by Al only by milling.     

Influence of shielding gas on the mechanical and metallurgical properties of DP-GMA-welded 5083-H321 aluminum alloy

In the present research, 6-mm-thick 5083-H321 aluminum alloy was joined by the double-pulsed gas metal arc welding (DP-GMAW) process. The objective was to investigate the influence of the shielding gas composition on the microstructure and properties of GMA welds. A macrostructural study indicated that the addition of nitrogen and oxygen to the argon shielding gas resulted in better weld penetration. Furthermore, the tensile strength and bending strength of the welds were improved when oxygen and nitrogen (at concentrations as high as approximately 0.1vol%) were added to the shielding gas; however, these properties were adversely affected when the oxygen and nitrogen contents were increased further. This behavior was attributed to the formation of excessive brown and black oxide films on the bead surface, the formation of intermetallic compounds in the weld metal, and the formation of thicker oxide layers on the bead surface with increasing nitrogen and oxygen contents in the argon-based shielding gas. Analysis by energy-dispersive X-ray spectroscopy revealed that most of these compounds are nitrides or oxides.     

Design and Manufacture of a Wax Injection Tool for Investment Casting Using Rapid Tooling

A rapid wax injection tool of a gearbox shift fork was designed, simulated, and manufactured using rapid prototyping and rapid tooling technology to save time and cost of producing wax models used for the investment casting process. CAE simulation softwares, in particular, MoldFlow, are used to get wax injection moulding parameters such as filling parameters, temperature profiles, freeze time, speed, and pressure. The results of this research were compared with conventional wax model production methods. The criteria of such comparison were based upon parameters such as time, cost, and other related characteristics, which resulted in saving of 50% in time and 60% in cost. In this research, design, assembly, and wax injection operation of the wax tool took 10 days. Considering the fact that wax melting temperature is as low as 70°C and injection pressure of 0.5 MPa, the tool suffers no damage due to the thermal and pressure stresses, leading to the mass production of wax models.     

含过量Fe和Si的铸态Al–Cu合金的拉伸性能和热裂敏感性

This study was undertaken to investigate the tensile properties and hot tearing susceptibility of cast Al–Cu alloys containing excess Fe (up to 1.5wt%) and Si (up to 2.5wt%). According to the results, the optimum tensile properties and hot tearing resistance were achieved at Fe/Si mass ratio of 1, where the α-Fe phase was the dominant Fe compound. Increasing the Fe/Si mass ratio above unity increased the amounts of detrimental β-CuFe platelets in the microstructure, deteriorating the tensile properties and hot tearing resistance. Decreasing the mass ratio below unity increased the size and fraction of Si needles and micropores in the microstructure, also impairing the tensile properties and hot tearing resistance. The investigation of hot-torn surfaces revealed that the β-CuFe platelets disrupted the tear healing phenomenon by blocking interdendritic feeding channels, while the α-Fe intermetallics improved the hot tearing resistivity due to their compact morphology and high melting point.