Modern microwave methods in solid state inorganic materials chemistry: from fundamentals to manufacturing

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High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation

Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809. Patients presented with multiple cafe-au-lait macules (CALM) with or without freckling and Lisch nodules, but no externally visible plexiform neurofibromas or clear cutaneous neurofibromas were found. About 25% of the individuals had Noonan-like features. Pulmonic stenosis and short stature were significantly more prevalent compared with classic cohorts (P<0.0001). Developmental delays and/or learning disabilities were reported in over 50% of patients. Melanocytes cultured from a CALM in a segmental NF1-patient showed two different somatic NF1 mutations, p.Arg1809Cys and a multi-exon deletion, providing genetic evidence that p.Arg1809Cys is a loss-of-function mutation in the melanocytes and causes a pigmentary phenotype. Constitutional missense mutations at p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype-phenotype correlation will affect counseling and management of a significant number of patients

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation: HUMAN MUTATION

Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype–phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational spectrum. We report 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809. Patients presented with multiple café‐au‐lait macules (CALM) with or without freckling and Lisch nodules, but no externally visible plexiform neurofibromas or clear cutaneous neurofibromas were found. About 25% of the individuals had Noonan‐like features. Pulmonic stenosis and short stature were significantly more prevalent compared with classic cohorts (P < 0.0001). Developmental delays and/or learning disabilities were reported in over 50% of patients. Melanocytes cultured from a CALM in a segmental NF1‐patient showed two different somatic NF1 mutations, p.Arg1809Cys and a multi‐exon deletion, providing genetic evidence that p.Arg1809Cys is a loss‐of‐function mutation in the melanocytes and causes a pigmentary phenotype. Constitutional missense mutations at p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype–phenotype correlation will affect counseling and management of a significant number of patients

通電焼結法によるBN-TiB2-TiN系複合材料の作製と諸性質

要約のみTohoku University後藤孝課

Co-pelletization of Industrial Sewage Sludge and Rice Straw: Characteristics and Economic Analysis

The disposal of industrial sewage sludge is one of the most serious environmental problems in Thailand. Moreover, the disposal expense is considered as the production cost to the manufacturer. Therefore, the concept of waste-to-energy technology (WTE) is applied to solve this problem. This study aimed to study the effect of sewage sludge and rice straw proportions on the properties of co-pellets. Here, the production of co-pelleted sewage sludge from the canned food industry, combined with biomass (rice straw), was performed using a lab-scale pelletization machine. The pellets consisted of sewage sludge (SS) and rice straw (RS) with sewage sludge ratios of RS100:SS0, RS50:SS50, RS35:SS65, RS25:SS75, and RS0:SS100. The co-pellets produced were characterized for physicochemical properties and calorific heating values. In addition, the benefit to cost ratio (B/C), internal rate of return (IRR), and payback period (PB) from the utilization of co-pellets were studied. The results suggest that the proportion of sewage sludge affects the properties of the co-pellets. The optimum sewage sludge to rice straw ratio at RS0:SS100 is considered to have good fuel combustion properties. It is suitable for the production of co-pellets because of its high volatility and low ash slagging conten

Effect of AlN addition on the reaction sintering of Al2TiO5 composites fabricated by spark plasma sintering

ABSTRACTFully dense Al2TiO5–Al2O3–TiN (ATN) composites were fabricated by reactive sintering using spark plasma sintering at 1400°C for 5 min under 100 MPa in vacuum. An equimolar ratio of Al2O3:TiO2 was used as the starting powder, while the addition of 0–36 mol% AlN was investigated. The thermodynamic calculation indicates that the initial reaction was that of TiO2 and AlN, forming TiN and Al2O3, and then the remaining TiO2 reacted with Al2O3 to produce Al2TiO5. With the increase in AlN precursor, Al2TiO5 gradually decreased, while Al2O3 and TiN increased. The lattice parameters of Al2TiO5 were enlarged with AlN addition, implying the incorporation of N atoms in the Al2TiO5 unit cell. The addition of AlN effectively produced fully densified bodies with small grain size, and microcrack-free, which therefore enhanced the mechanical properties of ATN composites. At 36 mol% AlN addition, the composite shows Vickers hardness and fracture toughness of 16.26 ± 1.61 GPa and 5.20 ± 0.46 MPa.m1/2, respectively

Electrical and thermal properties of off-stoichiometric SiC prepared by spark plasma sintering

Off-stoichiometric silicon carbide (SiC), C- and Si-added SiC (6H, α-type), with an excess amount of C or Si from 1 to 5 mol%, were fabricated by spark plasma sintering at 2373 K and 50 MPa in a vacuum. The microstructure, electrical, and thermal properties of off-stoichiometric SiC were investigated. The lattice parameters increased after the addition of C and Si, suggesting the formation of solid solutions of C and Si in SiC. The addition of C and Si increased the densification, while the addition of a small amount of Si (1 mol%) significantly improved the densification. The electrical conductivity (σ) of C-added SiC was 0.7–1.4 × 102 S m−1 at 298–1150 K. The Seebeck coefficient of C-added SiC changed from n- to p-type with increasing addition of C, whereas that of Si-added SiC was almost independent of the amount of Si added. The thermal conductivity of C- and Si-added SiC was in the range of 180–250 W m−1 K−1, which was greater than that of pristine SiC (100 W m−1 K−1) at room temperature