A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report

cited By 0Osteogenesis imperfecta (OI) and other decreased bone density disorders comprise a heterogeneous group of heritable diseases with skeletal fragility. Recently, it was discovered that mutations in SGMS2, encoding sphingomyelin synthetase 2, result in aberrant sphingomyelin metabolism and lead to a novel form of OI termed osteoporosis with calvarial doughnut lesions (OP-CDL) with moderate to severe skeletal fragility and variable cranial hyperostotic lesions. This study describes a Japanese family with the skeletal phenotype of OP-CDL. The affected individuals have moderately severe, childhood-onset skeletal fragility with multiple long-bone fractures, scoliosis and bone deformities. In addition, they exhibit multiple CDLs or calvarial bumps with central radiolucency and peripheral radiopacity. However, SGMS2 sequencing was normal. Instead, whole-exome sequencing identified a novel IFITM5 missense mutation c.143A>G (p.N48S) (classified as a VUS by ACMG). IFITM5 encodes an osteoblast-restricted protein BRIL and a recurrent c.-14C>T mutation in its 5' UTR region results in OI type V, a distinctive subtype of OI associated with hyperplastic callus formation and ossification of the interosseous membranes. The patients described here have a phenotype clearly different from OI type V and with hyperostotic cranial lesions, feature previously unreported in association with IFITM5. Our findings expand the genetic spectrum of OP-CDL, indicate diverse phenotypic consequences of pathogenic IFITM5 variants, and imply an important role for BRIL in cranial skeletogenesis.Peer reviewe

Modelling of friction stir welding of DH36 steel

A 3-D computational fluid dynamics (CFD) model was developed to simulate the friction stir welding of 6-mm plates of DH36 steel in an Eulerian steady-state framework. The viscosity of steel plate was represented as a non- Newtonian fluid using a flow stress function. The PCBN-WRe hybrid tool was modelled in a fully sticking condition with the cooling system effectively represented as a negative heat flux. The model predicted the temperature distribution in the stirred zone (SZ) for six welding speeds including low, intermediate and high welding speeds. The results showed higher asymmetry in temperature for high welding speeds. Thermocouple data for the high welding speed sample showed good agreement with the CFD model result. The CFD model results were also validated and compared against previous work carried out on the same steel grade. The CFD model also predicted defects such as wormholes and voids which occurred mainly on the advancing side and are originated due to the local pressure distribution between the advancing and retreating sides. These defects were found to be mainly coming from the lack in material flow which resulted from a stagnant zone formation especially at high tra- verse speeds. Shear stress on the tool surface was found to in- crease with increasing tool traverse speed. To produce a “sound” weld, the model showed that the welding speed should remain between 100 and 350 mm/min. Moreover, to prevent local melt- ing, the maximum tool’s rotational speed should not exceed 550 RPM

The total amounts of radioactively contaminated materials in forests in Fukushima, Japan

There has been leakage of radioactive materials from the Fukushima Daiichi Nuclear Power Plant. A heavily contaminated area (≥ 134, 137Cs 1000 kBq m−2) has been identified in the area northwest of the plant. The majority of the land in the contaminated area is forest. Here we report the amounts of biomass, litter (small organic matter on the surface of the soil), coarse woody litter, and soil in the contaminated forest area. The estimated overall volume and weight were 33 Mm3 (branches, leaves, litter, and coarse woody litter are not included) and 21 Tg (dry matter), respectively. Our results suggest that removing litter is an efficient method of decontamination. However, litter is being continuously decomposed, and contaminated leaves will continue to fall on the soil surface for several years; hence, the litter should be removed promptly but continuously before more radioactive elements are transferred into the soil

Defects in Friction Stir Welding of Steel

Defects associated with friction stir welding of two steel grades including DH36 and EH46 were investigated. Different welding parameters including tool rotational and tool traverse (linear) speeds were applied to understand their effect on weld seam defects including microcracks and voids formation. SEM images and infinite focus microscopy were employed to identify the defects types. Two new defects associated with the friction stir welding process are introduced in this work. The first defect identified in this work is a microcrack found between the plunge and the steady state region and attributed to the traverse moving of the tool with unsuitable speed from the plunge-dwell to the steady state stage. The tool traverse speed has recommended to travel 20 mm more with accelerated velocity range of 0.1 from the maximum traverse speed until reaching the steady state. The maximum recommended traverse speed in the steady state was also suggested to be less than 400 mm/min in order to avoid the lack in material flow. The second type of defect observed in this work was microcracks inside the stirred zone caused by elemental precipitations of TiN. The precipitates of TiN were attributed to the high tool rotational speed which caused the peak temperature to exceed 1200 °C at the top of the stirred zone and based on previous work. The limit of tool rotational speed was recommended to be maintained in the range of 200-500 RPM based on the mechanical experiments on the FSW samples

Increasing trends of soil greenhouse gas fluxes in Japanese forests from 1980 to 2009

Forest soils are a source/sink of greenhouse gases, and have significant impacts on the budget of these terrestrial greenhouse gases. Here, we show climate-driven changes in soil GHG fluxes (CO2 emission, CH4 uptake, and N2O emission) in Japanese forests from 1980 to 2009, which were estimated using a regional soil GHG model that is data-oriented. Our study reveals that the soil GHG fluxes in Japanese forests have been increasing over the past 30 years at the rate of 0.31 Tg C yr−2 for CO2 (0.23 % yr−1, relative to the average from 1980 to 2009), 0.40 Gg C yr−2 for CH4 (0.44 % yr−1), and 0.0052 Gg N yr−2 for N2O (0.27 % yr−1). Our estimates also show large interannual variations in soil GHG fluxes. The increasing trends and large interannual variations in soil GHG fluxes seem to substantially affect Japan's Kyoto accounting and future GHG mitigation strategies

Thermo-Mechanical Effect on Poly Crystalline Boron Nitride Tool Life During Friction Stir Welding (Dwell Period)

Poly Crystalline Boron Nitride (PCBN) tool wear during the friction stir welding of high melting alloys is an obstacle to commercialize the process. This work simulates the friction stir welding process and tool wear during the plunge/dwell period of 14.8 mm EH46 thick plate steel. The Computational Fluid Dynamic (CFD) model was used for simulation and the wear of the tool is estimated from temperatures and shear stress profile on the tool surface. Two sets of tool rotational speeds were applied including 120 and 200 RPM. Seven plunge/dwell samples were prepared using PCBN FSW tool, six thermocouples were also embedded around each plunge/dwell case in order to record the temperatures during the welding process. Infinite focus microscopy technique was used to create macrographs for each case. The CFD result has been shown that a shear layer around the tool shoulder and probe-side denoted as thermo-mechanical affected zone (TMAZ) was formed and its size increase with tool rotational speed increase. Maximum peak temperature was also found to increase with tool rotational speed increase. PCBN tool wear under shoulder was found to increase with tool rotational speed increase as a result of tool’s binder softening after reaching to a peak temperature exceeds 1250 °C. Tool wear also found to increase at probe-side bottom as a result of high shear stress associated with the decrease in the tool rotational speed. The amount of BN particles revealed by SEM in the TMAZ were compared with the CFD model

k・p摂動法による半導体量子井戸における電子g因子の計算

Lande g-factor which characterizes the response of electrons to external magnetic field is one of the most important factors in semiconductor opto-magnetic effects. In this report effects of quantum confinements on the electron g-factor in semiconductor quantum wells are discussed. First we introduce Ivchenko\u27s method of calculating g-factor based on k・p high-order perturbation method. Then we examine a simplified k・p method to obtain g-factor in quantum wells. It is found that the simplified method exhibits a good agreement with the experimental trends not only in the unstrained QWs but also in strained QWs

Suppression of Sproutys Has a Therapeutic Effect for a Mouse Model of Ischemia by Enhancing Angiogenesis

Sprouty proteins (Sproutys) inhibit receptor tyrosine kinase signaling and control various aspects of branching morphogenesis. In this study, we examined the physiological function of Sproutys in angiogenesis, using gene targeting and short-hairpin RNA (shRNA) knockdown strategies. Sprouty2 and Sprouty4 double knockout (KO) (DKO) mice were embryonic-lethal around E12.5 due to cardiovascular defects. The number of peripheral blood vessels, but not that of lymphatic vessels, was increased in Sprouty4 KO mice compared with wild-type (WT) mice. Sprouty4 KO mice were more resistant to hind limb ischemia and soft tissue ischemia than WT mice were, because Sprouty4 deficiency causes accelerated neovascularization. Moreover, suppression of Sprouty2 and Sprouty4 expression in vivo by shRNA targeting accelerated angiogenesis and has a therapeutic effect in a mouse model of hind limb ischemia. These data suggest that Sproutys are physiologically important negative regulators of angiogenesis in vivo and novel therapeutic targets for treating peripheral ischemic diseases

Tumour vascularization: sprouting angiogenesis and beyond

Tumour angiogenesis is a fast growing domain in tumour biology. Many growth factors and mechanisms have been unravelled. For almost 30 years, the sprouting of new vessels out of existing ones was considered as an exclusive way of tumour vascularisation. However, over the last years several additional mechanisms have been identified. With the discovery of the contribution of intussusceptive angiogenesis, recruitment of endothelial progenitor cells, vessel co-option, vasculogenic mimicry and lymphangiogenesis to tumour growth, anti-tumour targeting strategies will be more complex than initially thought. This review highlights these processes and intervention as a potential application in cancer therapy. It is concluded that future anti-vascular therapies might be most beneficial when based on multimodal anti-angiogenic, anti-vasculogenic mimicry and anti-lymphangiogenic strategies