Genetic variants in a sodium-dependent vitamin C transporter gene and age-related cataract.

BACKGROUND: Cataract is a major health burden in many countries and a significant problem in India. While observational studies show lower cataract risk with increasing dietary or plasma vitamin C, randomised controlled trials of supplements have been negative. Genetic variants in vitamin C transporter proteins (SLC23A1), especially rs33972313, may provide evidence on a causal association of vitamin C with cataract. METHODS: We used data from a randomly selected population-based study in people aged 60 years and above in north and south India. Of 7518 sampled, 5428 (72%) were interviewed for socioeconomic and lifestyle factors, attended hospital for lens imaging and blood collection and were subsequently genotyped for rs33972313 and rs6596473. Mixed or pure types of cataract were graded by the Lens Opacity Classification System III as nuclear (2404), cortical (494) or posterior subcapsular cataract (PSC) (1026); 1462 had no significant cataract and no history of cataract surgery and 775 had bilateral aphakia/pseudophakia. RESULTS: rs33972313 was associated with cortical (OR 2.16; 95% CI 1.34 to 3.49, p=0.002) and PSC (OR 1.68; 95% CI 1.06 to 2.65, p=0.03) but not with nuclear cataract. In analyses of pure cataracts, associations were found only between rs33972313 and pure cortical cataracts (OR 2.29; 95% CI 1.12 to 4.65, p=0.03) and with a standardised cortical opacity score. There was no association with rs6596473 and any cataract outcomes. CONCLUSIONS: Using an established genetic variant as a proxy for lifetime ascorbate concentrations, our results support a causal association of vitamin C with cataract

Enhancement of thermoelectric figure of merit in Bi2Se3 crystals through a necking process

The growth of good quality bulk single crystals of bismuth selenide by employing a high-temperature vertical Bridgman technique with a specially designed ampoule having a provision for a necking process is reported. Several growth experiments were performed and reproducible results were obtained. The crystal structure and lattice dimensions were confirmed by powder X-ray diffraction (PXRD), the bulk crystalline perfection was assessed using high-resolution X-ray diffractometry and the good bulk crystalline perfection with an indication of layered structure was confirmed. Transmission electron microscopy (TEM) was carried out for the grown single crystal and confirmed the layered structure. High-resolution TEM (HRTEM) was also used to further assess the crystalline perfection. The direct measurement of d spacing obtained from HRTEM imaging was found to be in good agreement with the data obtained from PXRD. The thermal behavior was examined by differential scanning calorimetry and a sharp melting was found at 983K, which revealed the purity of the bismuth selenide. The Seebeck coefficient and electrical and thermal conductivities were measured, and a thermoelectric figure of merit was calculated in order to assess the suitability of the crystal for thermoelectric applications such as refrigeration and portable power generation. Nanoindentation analysis was also performed for the first time

Genetic risk factors for late age-related macular degeneration in India.

BACKGROUND/AIMS: There are limited data from India on genetic variants influencing late age-related macular degeneration (AMD). We have previously reported associations from a population-based study in India (the India age-related eye disease study (INDEYE)) of early AMD and single nucleotide polymorphisms (SNPs) in ARMS2/HTRA1 and no association with CFH, C2 or CFB. Late AMD cases were too few for meaningful analyses. We aimed to investigate SNPs for late AMD through case enrichment and extend the loci for early AMD. METHODS: Fundus images of late AMD hospital cases were independently graded by the modified Wisconsin AMD grading scheme. In total 510 cases with late AMD (14 geographic atrophy and 496 neovascular AMD (nvAMD)), 1876 with early AMD and 1176 with no signs of AMD underwent genotyping for selected SNPs. We investigated genotype and per-allele additive associations (OR and 95% CIs) with nvAMD or early AMD. Bonferroni adjusted P values are presented. RESULTS: We found associations with nvAMD for CFHY402H variant (rs1061170) (OR=1.99, 95% CI 1.67 to 2.37, P=10-6), ARMS2 (rs10490924) (OR=2.94, 95% CI 2.45 to 3.52, P=10-9), C2 (rs547154) (OR=0.67, 95% CI 0.53 to 0.85, P=0.01), ABCA1 (rs1883025) (OR=0.77, 95% CI 0.65 to 0.92, P=0.04) and an SNP near VEGFA (rs4711751) (OR=0.64, 95% CI 0.54 to 0.77, P=10-3). We found no associations of TLR3 (rs3775291), CFD (rs3826945), FRK (rs1999930) or LIPC (rs10468017) or APOE ε4 alleles with nvAMD or early AMD, nor between early AMD and rs1883025 or rs4711751. CONCLUSIONS: The major genetic determinants of nvAMD risk in India are similar to those in other ancestries, while findings for early AMD suggest potential differences in the pathophysiology of AMD development

Tissue-Specific Orchestration of Gilthead Sea Bream Resilience to Hypoxia and High Stocking Density

Two different O-2 levels (normoxia: 75-85% O-2 saturation; moderate hypoxia: 42-43% O-2 saturation) and stocking densities (LD: 9.5, and HD: 19 kg/m(3)) were assessed on gilthead sea bream (Sparus aurata) in a 3-week feeding trial. Reduced O-2 availability had a negative impact on feed intake and growth rates, which was exacerbated by HD despite of the improvement in feed efficiency. Blood physiological hallmarks disclosed the enhancement in O-2-carrying capacity in fish maintained under moderate hypoxia. This feature was related to a hypo-metabolic state to cope with a chronic and widespread environmental O-2 reduction, which was accompanied by a differential regulation of circulating cortisol and growth hormone levels. Customized PCR-arrays were used for the simultaneous gene expression profiling of 34-44 selected stress and metabolic markers in liver, white skeletal muscle, heart, and blood cells. The number of differentially expressed genes ranged between 22 and 19 in liver, heart, and white skeletal muscle to 5 in total blood cells. Partial Least-Squares Discriminant Analysis (PLS-DA) explained [R2Y(cum)] and predicted [Q2Y(cum)] up to 95 and 65% of total variance, respectively. The first component (R2Y = 0.2889) gathered fish on the basis of O-2 availability, and liver and cardiac genes on the category of energy sensing and oxidative metabolism (cs, hif-1 alpha, pgc1 alpha, pgc1 beta, sirts 1-2-4-5-6-7), antioxidant defense and tissue repair (prdx5, sod2, mortalin, gpx4, gr, grp-170, and prdx3) and oxidative phosphorylation (nd2, nd5, and coxi) highly contributed to this separation. The second component (R2Y = 0.2927) differentiated normoxic fish at different stocking densities, and the white muscle clearly promoted this separation by a high over-representation of genes related to GH/IGF system (ghr-i, igfbp6b, igfbp5b, insr, igfbp3, and igf-i). The third component (R2Y = 0.2542) discriminated the effect of stocking density in fish exposed to moderate hypoxia by means of hepatic fatty acid desaturases (fads2, scd1a, and scd1b) and muscle markers of fatty acid oxidation (cpt1a). All these findings disclose the different contribution of analyzed tissues (liver >= heart > muscle > blood) and specific genes to the hypoxic- and crowding stress-mediated responses. This study will contribute to better explain and understand the different stress resilience of farmed fish across individuals and species

A common variant near TGFBR3 is associated with primary open angle glaucoma

Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10−33), we observed one SNP showing significant association to POAG (CDC7–TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10−8). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis

Performance of Al2O3/TiO2 nano composite particles in domestic refrigerator

This article presents an experimental investigation of domestic refrigerator using R134a as working fluid with different concentration of Al2O3, TiO2 nano particles and nano composite particles dispersed in polyolester (POE) oil lubricant. All the nano particles were added to the POE oil with 0.1gL−1 volume concentration. The experiments are conducted for different compositions such as R134a with POE oil, R134a with nano lubricant (Al2O3/POE oil and TiO2/POE oil) and R134a with nano composite lubricant (75% Al2O3/25% TiO2/POE oil, 50% Al2O3/50% TiO2/POE oil and 25% Al2O3/75% TiO2/POE oil). Both second law analysis and performance analysis was conducted. Analysis was based on temperature and pressure readings measured from various sensors and gauges which is attched to the system. The test conducted at −18 °C temperature in evaporator with reference to 27 °C environment state. Findings show that best performance is given by R134a with nano composite lubricant 50% Al2O3/50% TiO2/POE oil which results in lowest power consumption of 92.2 W, highest actual coefficient of performance of 2.33, lowest compressor work of 61.24 kJ/kg, lowest total irreversibility of the system of 36.19 kJ/kg and highest second law efficiency of the system of 40.9%. Thus, using this nano composite fluid mixture as lubricant in domestic refrigerator is suggested

Effects of semi-organic additives on the solubility, growth, optical, thermal, mechanical, dielectric and NLO behaviors of ADP crystals for optoelectronic applications

Effects of the addition of semi-organic NLO materials potassium hydrogen malate monohydrate (PHMM) and sodium acid phthalate (NaAP) on the growth and various properties of ammonium dihydrogen phosphate (ADP) single crystal grown by the slow cooling method have been studied. The metastable zonewidth of pure and doped ADP were determined and compared. Nucleation studies show that metastable zonewidth and growth rate of ADP are enhanced by the dopants PHMM and NaAP. The grown crystals were subjected to Powder XRD, UV-vis, TG/DSC, microhardness and dielectric studies. The grown crystal has good optical transparency in the entire visible region, which is an essential requirement for a nonlinear crystal. Dielectric measurements reveal that doped ADP crystals have low dielectric loss and higher dielectric constant than pure ADP. The relative SHG efficiency measurements revealed that the dopant has enhanced the efficiency. Presence of dopant was confirmed by energy-dispersive spectrometry