Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India
JOURNAL OF GENETICS
Authors: Venkatesh, Sowmya Devatha; Kandasamy, Mahesh; Moily, Nagaraj S.; Vaidyanathan, Radhika; Kota, Lakshmi Narayanan; Adhikarla, Syama; Yadav, Ravi; Pal, Pramod Kumar; Jain, Sanjeev; Purushottam, Meera
Abstract
Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative syndromes, characterized by a wide range of muscular weakness and motor deficits, caused due to cerebellar degeneration. The prevalence of the syndromes of SCA varies across the world and is known to be linked to the instability of trinucleotide repeats within the high-end normal alleles, along with susceptible haplotype. We estimated sizes of the CAG or GAA repeat expansions at the SCA1, SCA2, SCA3, SCA12 and frataxin loci among 864 referrals of subjects to genetic counselling and testing (GCAT) clinic, National Institute of Mental Health and Neurosciences, Bengaluru, India, with suspected SCA. The most frequent mutations detected were SCA1 (n = 100 (11.6%)) and SCA2 (n = 98 (11.3%)) followed by SCA3 (n = 40 (4.6%)), FRDA (n = 20 (2.3%)) and SCA12 (n = 8 (0.9%)).
Preparation of MCM-41-supported Pd-Pt catalysts with enhanced activity and sulfur resistance for partial hydrogenation of soybean oil-derived biodiesel fuel
APPLIED CATALYSIS A-GENERAL
Authors: Rungsi, Artita Na; Luengnaruemitchai, Apanee; Chollacoop, Nuwong; Chen, Shih-Yuan; Mochizuki, Takehisa; Takagi, Hideyuki; Yoshimura, Yuji
Abstract
MCM-41-supported bimetallic Pd-Pt prepared by the incipient wetness impregnation method were applied as hydrotreating catalysts for the partial hydrogenation of soybean oil-derived biodiesel into partially hydrogenated fatty acid methyl esters (H-FAME) for use in high blends. The catalytic performance and sulfur resistance of the prepared Pd-Pt/MCM-41 catalysts were strongly associated with the Pd/Pt weight ratio. When H-FAME was synthesized at 100 degrees C and 0.4 MPa of H-2 for 4 h, the 1 wt.% Pd-Pt/MCM-41 (1:1) showed high hydrogenation activity (turnover frequency of 195 h(-1) and rate constant of 3.97 x 10(-1) h(-1) gcat(-1)) with the lowest degree of oversaturation of 4.8 at high conversion of C18:2, and strong resistance to the sulfur species as a poison added to the feedstock. Their high catalytic performance should be related to the suitable size of bimetallic Pd-Pt nanoparticles with a balance of electronic properties, which is supported by the X-ray diffraction and X-ray photoelectron spectroscopy results.