A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria.

Bilateral frontoparietal polymicrogyria is an autosomal recessive inherited human brain malformation with abnormal cortical lamination. The affected cortex appears to consist of numerous small gyri, with scalloping of the cortical-white matter junction. There are associated white matter, brain stem, and cerebellar changes. Affected individuals manifest mental retardation, language impairment, motor developmental delay, and seizure disorder. GPR56 is the causative gene. Here we report a novel missense mutation of GPR56, E496K, identified in a consanguineous pedigree with bilateral frontoparietal polymicrogyria. GPR56 protein is cleaved at the G-protein-coupled receptor proteolytic site into an N- and a C-terminal fragment, named GPR56(N) and GPR56(C), respectively. E496K is located in GPR56(C). Further biochemical studies reveal that this mutation affects GPR56(C) cell surface expression similar to the effect of a previously reported mutation, R565W. These results provide further insights into how GPR56 mutation causes neurologic disease.

The association between normal alanine aminotransferase levels and the metabolic syndrome: 2005 Korean National Health and Nutrition Examination Survey.

The metabolic syndrome is known to sometimes exist in the presence of normal aminotransferase levels. The purpose of this study was to determine the lowest sex-specific level of alanine aminotransferase associated with the metabolic syndrome in a nationwide, representative Korean population. We analyzed data from adults 20 years and older (n = 3405) assessed in the Third Korean National Health and Nutrition Examination Survey (2005). Participants were divided into 4 groups according to the quartiles of alanine aminotransferase levels for each sex. Logistic regression modeling was performed after adjustment for age, body mass index, waist circumference, smoking, ingested alcohol amount, and physical activity. Alanine aminotransferase level groups 3 and 4 in women (> or =15 IU/L) and group 4 in men (> or =27 IU/L) were significantly associated with the metabolic syndrome compared with the lowest alanine aminotransferase groups (<16 IU/L in men, <11 IU/L in women). In men, the odds ratio (95% confidence interval) of the metabolic syndrome was 2.71 (1.31-5.63) for alanine aminotransferase group 4 (> or =27 IU/L). In women, odds ratios were 1.69 (1.02-2.80) and 2.06 (1.23-3.43) for alanine aminotransferase groups 3 (15 < or = alanine aminotransferase < 19 IU/L) and 4 (> or =19 IU/L), respectively. High-normal alanine aminotransferase levels (> or =27 IU/L in men, > or =15 IU/L in women) were strongly associated with the metabolic syndrome in Korean adults.

Production of nanosized carbon black from hydrocarbon by a thermal plasma.

Thermal plasma conditions (optimal heat and radical sources for the thermal decomposition) can be used to accelerate thermodynamically favorable chemical reactions or provide the energy required for endothermic reforming processes. Direct thermal decomposition of hydrocarbon (methane, acetylene, and propane) was carried out using a thermal plasma system which is an environmentally favorable process. In case of thermal decomposition, high purity of the hydrogen and solidified nano-sized carbon can be achieved without any contaminant. The main product carbon produced by thermal decomposition can be either sequestered or used as a raw material and it can be applied for the varieties of industry fields. The morphology of the carbon was characterized by SEM and the particle size was determined by a particle size analyzer. It was observed that the carbon black particles were sphere particles with mainly several tens of nano-sized diameters, those are about 10-80 nm. It can be expected to be used as a raw material of laser printer toner which requires small sized carbon black particles; An average primary particle size of PRINTEX L (Degussa Fillers & Pigment) used in a part of printing inks is 23 nm. In case of the XRD pattern of the produced carbon black from acetylene is of higher crystalline than the commercialized carbon black used for fuel cells. Also carbon species produced were characterized by EA and TGA.