Microsatellite Instability in Russian Patients with Colorectal Cancer

The aim of this study was to determine the characteristics of Russian patients with microsatellite instability (MSI) tumors. MSI in the tumor was determined in 514 patients with colon cancer using PCR and subsequent fragment analysis for five markers (NR21, NR24, BAT25, BAT26, and NR27). In the presence of microsatellite instability, the mismatch repair (MMR) system genes were examined using the NGS and MLPA methods to establish the diagnosis of Lynch syndrome. The overall frequency of MSI tumors was 15%: at stage I—19% (9/48), at stage II—21% (44/213), at stage III—16% (26/160), and at stage IV—2% (2/93). Patients with MSI tumors differed in the age of diagnosis, tumor localization, time of cancer recurrence, and stage of the disease. The overall and disease-free survival of patients whose tumors had MSI status was higher than that of patients with microsatellite-stable status, p = 0.04 and p = 0.02, respectively. Analysis of overall and disease-free survival of patients with Lynch syndrome and patients with sporadic colon cancer, but with MSI status, did not reveal significant differences, p = 0.52 and p = 0.24, respectively. The age of patients with Lynch syndrome was significantly younger than that of patients with sporadic colon cancer whose tumors had MSI status (p < 0.001).     

Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World’s Population and the Human Genome

Genome-wide sequencing metadata allows researchers to infer bias in the relative frequencies of mutational events and to predict putative mutagenic models. In addition, much less data could be useful in the evaluation of the mutational frequency spectrum and the prevalent local mutagenic process. Here we analyzed the PAX6 gene locus for mutational spectra obtained in our own and previous studies and compared them with data on other genes as well as the whole human genome. MLPA and Sanger sequencing were used for mutation searching in a cohort of 199 index patients from Russia with aniridia and aniridia-related phenotypes. The relative frequencies of different categories of PAX6 mutations were consistent with those previously reported by other researchers. The ratio between substitutions, small indels, and chromosome deletions in the 11p13 locus was within the interval previously published for 20 disease associated genomic loci, but corresponded to a higher end due to very high frequencies of small indels and chromosome deletions. The ratio between substitutions, small indels, and chromosome deletions for disease associated genes, including the PAX6 gene as well as the share of PAX6 missense mutations, differed considerably from those typical for the whole genome.     

Galaxy Dnpatterntools for Computational Analysis of Nucleosome Positioning Sequence Patterns

Nucleosomes are basic units of DNA packing in eukaryotes. Their structure is well conserved from yeast to human and consists of the histone octamer core and 147 bp DNA wrapped around it. Nucleosomes are bound to a majority of the eukaryotic genomic DNA, including its regulatory regions. Hence, they also play a major role in gene regulation. For the latter, their precise positioning on DNA is essential. In the present paper, we describe Galaxy dnpatterntools—software package for nucleosome DNA sequence analysis and mapping. This software will be useful for computational biologists practitioners to conduct more profound studies of gene regulatory mechanisms.     

SESAME-S: Semantic Smart Home System for Energy Efficiency

As the urgent need for efficient and sustainable energy usage becomes ever more apparent, interest in Smart Homes is on the rise. The SESAME-S project (SEmantic SmArt Metering – Services for Energy Efficient Houses) uses semantically linked data to actively assist end-consumers in making well-informed decisions and controlling their energy consumption. By integrating smart metering and home automation functionality, SESAME-S works to effectively address the potential mass market of end-consumers with an easily customizable solution that can be widely implemented in domestic or business environments, with expected savings of over 20?% from the total energy bill. The developed system is a basis for conceptualizing, demonstrating, and evaluating a variety of innovative end-consumer services and their user interface paradigms. In this paper, we present the SESAME-S system as a whole and discuss the semantically enabled services, demonstrating that such systems may have broad acceptance in the future. The data obtained through such systems will be invaluable for future global energy-efficiency strategies and businesses.     

Efficient approximation algorithms for the routing open shop problem

We consider the routing open shop problem being a generalization of two classical discrete optimization problems: the open shop scheduling problem and the metric traveling salesman problem. The jobs are located at nodes of some transportation network, and the machines travel on the network to execute the jobs in the open shop environment. The machines are initially located at the same node (depot) and must return to the depot after completing all the jobs. It is required to find a non-preemptive schedule with the minimum makespan. The problem is NP-hard even on the two-node network with two machines. We present new polynomial-time approximation algorithms with worst-case performance guarantees.     

Possibilities of production of nanopowders with high power ELV electron accelerator

Electron-beam evaporation of various natural and industrial materials in the atmosphere of different gases at atmospheric pressure can be used for the synthesis of nanosize powders. These powders are characterized by high purity and may exhibit unusual properties. In particular, nanopowders of silicon dioxide and oxide (SiO₂, SiO), magnesia (MgO), alumina (Al₂O₃), titania (TiO₂), gadolinium oxide (Gd₂O₃), various metals (tantalum, molybdenum, nickel, aluminium, copper, silver), semiconductor (Si), nitrides (AlN, TiN), and some other substances had been produced. The process of nanopowder synthesis is highly effective; in particular, the yield of oxides can exceed ten kilograms per hour.     

Experimental Study of Laminar Convective Condensation of Pure Vapor Inside an Inclined Circular Tube

Convective condensation of pure ethanol vapor inside a smooth tube of inner diameter 4.8 mm and of length 200 mm is studied. The experiments have been carried out at temperature 58°C corresponding to the pressure of 440 mbar, the vapor mass velocity varying from 0.24 to 2.04 kg/(m² s). The dependency of the Heat Transfer Coefficient (HTC) is investigated experimentally both subject to the temperature difference between the saturated vapor and the wall and subject to the condenser inclination. The results show that the HTC reduces with growth of the temperature difference. The dependency of the HTC on inclination has a maximum in the range 15°–35° due to the complex gravity drainage mechanism of the condensed liquid. The results could be useful for development of compact effective cooling systems for space and ground application.