Search results for: non synonymous single nucleotide polymorphism (nsSNP)

Authors: Karan R. Chavan, Srivats Gopalan, Kumudini V. Marathe

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In the current work, the comparison of degradation of malathion by single species, Pseudomonas Stutzeri, and Activated Sludge/Mixed Microbial Culture is studied in a Membrane Bioreactor. Various parameters were considered to study the effect of single species degradation compared to degradation by activated sludge. The experimental results revealed 85-90% reduction in the COD of the Malathion containing synthetic wastewater. Complete reduction of malathion was observed within 24 hours in both the cases. The critical flux was 10 LMH for both the systems. Fouling propensity, Cake and Membrane resistances were calculated thus giving an insight regarding the working of Membrane Bioreactor-based on single species and activated sludge.

Keywords: fouling, membrane bioreactor, mixed microbial culture, single species

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Authors: Hiroyuki Aoki

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The physical properties of polymer materials are dependent on the conformation and molecular motion of a polymer chain. Therefore, the structure and dynamic behavior of the single polymer chain have been the most important concerns in the field of polymer physics. However, it has been impossible to directly observe the conformation of the single polymer chain in a bulk medium. In the current work, the novel techniques to study the conformation and dynamics of a single polymer chain are proposed. Since a fluorescence method is extremely sensitive, the fluorescence microscopy enables the direct detection of a single molecule. However, the structure of the polymer chain as large as 100 nm cannot be resolved by conventional fluorescence methods because of the diffraction limit of light. In order to observe the single chains, we developed the labeling method of polymer materials with a photo-switchable dye and the super-resolution microscopy. The real-space conformational analysis of single polymer chains with the spatial resolution of 15-20 nm was achieved. The super-resolution microscopy enables us to obtain the three-dimensional coordinates; therefore, we succeeded the conformational analysis in three dimensions. The direct observation by the nanometric optical microscopy would reveal the detailed information on the molecular processes in the various polymer systems.

Keywords: polymer materials, single molecule, super-resolution techniques, conformation

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Authors: Atefeh Esmailnejad, Gholam Reza Nikbakht Brujeni

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The major histocompatibility complex (MHC) is the best-characterized genetic region associated with susceptibility and/or resistance to a wide range of infectious diseases, autoimmune diseases and immune responses to vaccines. It has been demonstrated that there is an association between the MHC and resistance to Marek disease, Newcastle disease, Rous sarcoma tumor, Avian leucosis, Fowl cholera, Salmonellosis and Pasteurellosis in chicken. The present study evaluated the MHC polymorphism and its association with antibody response to Newcastle (ND) vaccine in Iranian native chickens. The MHC polymorphism was investigated using LEI0258 microsatellite locus by PCR-based fragment analysis. LEI0258 microsatellite marker is a genetic indicator for MHC, which is located on microchromosome 16 and strongly associated with serologically defined MHC haplotypes. Antibody titer against ND vaccine was measured by Haemaglutination Inhibition (HI) assay. Statistical analysis was performed using SPSS software (version 21). Total of 13 LEI0258 microsatellite alleles were identified in 72 samples which indicated a high genetic diversity in the population. The association study revealed a significant influence of MHC alleles on immune responses to Newcastle vaccine. 311 and 313 bp alleles were significantly associated with elevated immune responses to Newcastle vaccine (p<0.05). These results would be applicable in designing and improving the populations under selective breeding.

Keywords: chicken, LEI0258, MHC, Newcastle vaccine

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Authors: Kesavan Markkandan, Ha Young Park, Seung-Il Yoo, Sin-Gi Park, Junhyung Park

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For genetic identification of crop cultivars, insertions/deletions (InDel) markers have been preferred currently because they are easy to use, PCR based, co-dominant and relatively abundant. However, new InDels need to be developed for genetic studies of new varieties due to the difference of allele frequencies in InDels among the population groups. These new varieties are evolved with low levels of genetic diversity in specific genome loci with high recombination rate. In this study, we described soybean barcode system approach based on InDel makers, each of which is specific to a variation block (VB), where the genomes split by all assumed recombination sites. Firstly, VBs in crop cultivars were mined for transferability to VB-specific InDel markers. Secondly, putative InDels in the VB regions were identified for the development of barcode system by analyzing particular cultivar’s whole genome data. Thirdly, common VB-specific InDels from all cultivars were selected by gel electrophoresis, which were converted as 2D barcode types according to comparing amplicon polymorphisms in the five cultivars to the reference cultivar. Finally, the polymorphism of the selected markers was assessed with other cultivars, and the barcode system that allows a clear distinction among those cultivars is described. The same approach can be applicable for other commercial crops. Hence, VB-based genetic identification not only minimize the molecular markers but also useful for assessing cultivars and for marker-assisted breeding in other crop species.

Keywords: variation block, polymorphism, InDel marker, genetic identification

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Authors: Lakmini Wijesooriya, Vicki Chalker, Jessica Day, Priyantha Perera, N. P. Sunil-Chandra

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M. pneumoniae has been identified as an etiology for exacerbation of asthma (EQA), although viruses play a major role in EOA. M. pneumoniae infection is treated empirically with macrolides, and its antibiotic sensitivity is not detected routinely. Characterization of the organism by genotyping and determination of macrolide resistance is important epidemiologically as it guides the empiric antibiotic treatment. To date, there is no such characterization of M. pneumoniae performed in Sri Lanka. The present study describes the characterization of M. pneumoniae detected from a child with EOA following a screening of 100 children with EOA. Of the hundred children with EOA, M. pneumoniae was identified only in one child by Real-Time polymerase chain reaction (PCR) test for identifying the community-acquired respiratory distress syndrome (CARDS) toxin nucleotide sequences. The M. pneumoniae identified from this patient underwent detection of macrolide resistance via conventional PCR, amplifying and sequencing the region of the 23S rDNA gene that contains single nucleotide polymorphisms that confer resistance. Genotyping of the isolate was performed via nested Multilocus Sequence Typing (MLST) in which eight (8) housekeeping genes (ppa, pgm, gyrB, gmk, glyA, atpA, arcC, and adk) were amplified via nested PCR followed by gene sequencing and analysis. As per MLST analysis, the M. pneumoniae was identified as sequence type 14 (ST14), and no mutations that confer resistance were detected. Resistance to macrolides in M. pneumoniae is an increasing problem globally. Establishing surveillance systems is the key to informing local prescriptions. In the absence of local surveillance data, antibiotics are started empirically. If the relevant microbiological samples are not obtained before antibiotic therapy, as in most occasions in children, the course of antibiotic is completed without a microbiological diagnosis. This happens more frequently in therapy for M. pneumoniae which is treated with a macrolide in most patients. Hence, it is important to understand the macrolide sensitivity of M. pneumoniae in the setting. The M. pneumoniae detected in the present study was macrolide sensitive. Further studies are needed to examine a larger dataset in Sri Lanka to determine macrolide resistance levels to inform the use of macrolides in children with EOA. The MLST type varies in different geographical settings, and it also provides a clue to the existence of macrolide resistance. The present study enhances the database of the global distribution of different genotypes of M. pneumoniae as this is the first such characterization performed with the increased number of samples to determine macrolide resistance level in Sri Lanka. M. pneumoniae detected from a child with exacerbation of asthma in Sri Lanka was characterized as ST14 by MLST and no mutations that confer resistance were detected.

Keywords: mycoplasma pneumoniae, Sri Lanka, characterization, macrolide resistance

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Authors: Ian Campbell, Gillian Mitchell, Paul James, Na Li, Ella Thompson

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The genetic cause of the majority of multiple-case breast cancer families remains unresolved. Next generation sequencing has emerged as an efficient strategy for identifying predisposing mutations in individuals with inherited cancer. We are conducting whole exome sequence analysis of germ line DNA from multiple affected relatives from breast cancer families, with the aim of identifying rare protein truncating and non-synonymous variants that are likely to include novel cancer predisposing mutations. Data from more than 200 exomes show that on average each individual carries 30-50 protein truncating mutations and 300-400 rare non-synonymous variants. Heterogeneity among our exome data strongly suggest that numerous moderate penetrance genes remain to be discovered, with each gene individually accounting for only a small fraction of families (~0.5%). This scenario marks validation of candidate breast cancer predisposing genes in large case-control studies as the rate-limiting step in resolving the missing heritability of breast cancer. The aim of this study is to screen genes that are recurrently mutated among our exome data in a larger cohort of cases and controls to assess the prevalence of inactivating mutations that may be associated with breast cancer risk. We are using the Agilent HaloPlex Target Enrichment System to screen the coding regions of 168 genes in 1,000 BRCA1/2 mutation-negative familial breast cancer cases and 1,000 cancer-naive controls. To date, our interim analysis has identified 21 genes which carry an excess of truncating mutations in multiple breast cancer families versus controls. Established breast cancer susceptibility gene PALB2 is the most frequently mutated gene (13/998 cases versus 0/1009 controls), but other interesting candidates include NPSR1, GSN, POLD2, and TOX3. These and other genes are being validated in a second cohort of 1,000 cases and controls. Our experience demonstrates that beyond PALB2, the prevalence of mutations in the remaining breast cancer predisposition genes is likely to be very low making definitive validation exceptionally challenging.

Keywords: predisposition, familial, exome sequencing, breast cancer

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Authors: Lucas B. Naves, Maria José Abreu

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Reprocessing single-use device has attracted interesting on the medical environment over the last decades. The reprocessing technique was sought in order to reduce the cost of purchasing the new medical device, which can achieve almost double of the price of the reprocessed product. In this manuscript, we have done a literature review, aiming the reuse of medical device that was firstly designed for single use only, but has become, more and more, effective on its reprocessing procedure. We also show the regulation, the countries which allows this procedure, the classification of these device and also the most important issue concerning the re-utilization of medical device, how to minimizing the risk of gram positive and negative bacteria, avoid cross-contamination, hepatitis B (HBV), and C (HCV) virus, and also human immunodeficiency virus (HIV).

Keywords: reusing, reprocessing, single-use medical device, HIV, hepatitis B and C

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Authors: Yasunori Kobori, Nobukazu Tsukiji, Nobukazu Takai, Haruo Kobayashi

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In this paper, we study a Pulse-WidthModulation (PWM) controlled Zero-Voltage-Switching (ZVS) for single-inductor dual-output (SIDO) converters. This method can meet the industry demands for high efficiency due to ZVS and small size and low cost, thanks to single-inductor per multiple voltages. We show the single inductor single-output (SISO) ZVS buck converter with its operation and simulation and then the experimental results. Next proposed ZVS-PWM controlled SIDO converters are explained in the simulation. Finally we have proposed EMI reduction method with spread spectrum.

Keywords: DC-DC switching converter, zero-oltage switching control, single-inductor dual-output converter, EMI reduction, spread spectrum

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Authors: Sung-Bok Choi, Hyun-Jun Shin, Hyoung-Kyu Song

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This paper proposes a single relay selection scheme in cooperative communication. Decode and forward scheme is considered when a source node wants to cooperate with a single relay for data transmission. To use the proposed single relay selection scheme, the source node make a little different pattern signal which is not complex pattern and broadcasts it. The proposed scheme does not require the channel state information between the source node and candidates of the relay during the relay selection. Therefore, it is able to be used in many fields.

Keywords: relay selection, cooperative communication, df, channel codes

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Authors: Rifat Tabassoom

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Recently multistoried housing projects are accelerating in the capital of Bangladesh- Dhaka, to house its massive population. Insufficient background research leads to a building design trend where a single unit is designed and then multiplied all through the buildings. Therefore, although having identical designs, all the units cannot perform evenly considering daylight, which also alters their household activities. This paper aims to understand if a single unit can be an optimum solution regarding daylight for a selected housing project.

Keywords: daylight, orientation, performance, simulations

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Authors: Prem Singh, Jagdeep Singh

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In an attempt to investigate the performance of single basin solar still for climate conditions of Ludhiana a single basin solar still was designed, fabricated and tested. The energy balance equations for various parts of the still are solved by Gauss-Seidel iteration method. Computer model was made and experimentally validated. The validated computer model was used to estimate the annual distillation yield and performance ratio of the still for Ludhiana. The Theoretical and experimental distillation yield were 4318.79 ml and 3850 ml, respectively for the typical day. The predicted distillation yield was 12.5% higher than the experimental yield. The annual distillation yield per square meter aperture area and annual performance ratio for single basin solar still is 1095 liters and 0.43 liters, respectively. The payback period for micro-stepped solar still is 2.5 years.

Keywords: solar distillation, solar still, single basin, still

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Authors: Nakarin Prempri

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Single-phase induction motors are widely used in industry. Most manufacturing processes use capacitor-run single-phase induction motors to drive mechanical loads. The selection of a suitable motor for driving is important. The optimum operating range of the motor can help the motor operate efficiently. Thus, this paper presents an operating range analysis of capacitor-run single-phase induction motors and a determination of suitability between motor and mechanical loads. an observational study found that the optimum operating range of the motor can be used to determine the suitability between the motor and the mechanical load. Such considerations ensure that the motor uses no more current than necessary and operates efficiently.

Keywords: single phase induction motor, operating range, torque curve, efficiency curve

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Authors: Sarah A. Goodchild, Rachel Gao, Philip N. Bartlett

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A novel detection approach using immobilized DNA probes labeled with Anthraquinone (AQ) as an electrochemically active reporter moiety has been successfully developed as a new, simple, reliable method for the detection of DNA. This method represents a step forward in DNA detection as it can discriminate between multiple nucleotide polymorphisms within target DNA strands without the need for any additional reagents, reporters or processes such as melting of DNA strands. The detection approach utilizes single-stranded DNA probes immobilized on gold surfaces labeled at the distal terminus with AQ. The effective immobilization has been monitored using techniques such as AC impedance and Raman spectroscopy. Simple voltammetry techniques (Differential Pulse Voltammetry, Cyclic Voltammetry) are then used to monitor the reduction potential of the AQ before and after the addition of complementary strand of target DNA. A reliable relationship between the shift in reduction potential and the number of base pair mismatch has been established and can be used to discriminate between DNA from highly related pathogenic organisms of clinical importance. This indicates that this approach may have great potential to be exploited within biosensor kits for detection and diagnosis of pathogenic organisms in Point of Care devices.

Keywords: Anthraquinone, discrimination, DNA detection, electrochemical biosensor

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Authors: Rasheed F. G., Hassan H. A., Shehu F. A., Mukhtar M. M., Muhammad Y. Y., Ibrahim S. S., Shehu D., Abdulsalam K., N. Abdullahi

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A cross sectional randomized, descriptive cross sectional study was conducted on the frequency of GSTT1 null alleles in patients diagnosed with type-2-diabetes mellitus (T2DM). A total of 40 patients with T2DM and 10 non-diabetic controls were included in the study. GSTT1 null-alleles genotyping was carried out using multiplex PCR amplification to amplify GSTT1 gene (460bp) while using β-globulin (250bp) as an internal control. The results showed that 55% of T2DM patients had BMI within reference limits, 13% are overweight. Additionally, patients with T2DM were found to have significantly higher (p<0.05) serum levels of glucose, total cholesterol, triglyceride and low density lipoprotein. Furthermore, the presence of null genotype of GSTT1 (deletion in GSTT1) was observed in 28% of diabetic patients. Subjects with GSTT1 deletion have significantly higher (p<0.05) levels of serum glucose, low-density lipoprotein and total cholesterol when compared with individuals without deletion (diabetic and non-diabetic). This results suggests that the deletion of GSTT1 gene might serve as a predisposing factor in the development of T2DM and dyslipideamia

Keywords: diabetes, glutathione-S-transferase, lipid profile, PCR, polymorphism.

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Authors: A. Al-Rashidi, A. El-Hamalawi

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In this paper, a performance study was conducted to investigate single and dual-axis PV systems to generate electricity in five different sites in Kuwait. Relevant data were obtained by using two sources for validation purposes. A commercial software, PVsyst, was used to analyse the data, such as metrological data and other input parameters, and compute the performance parameters such as capacity factor (CF) and final yield (YF). The results indicated that single and dual-axis PV systems would be very beneficial to electricity generation in Kuwait as an alternative source to conventional power plants, especially with the increased demand over time. The ranges were also found to be competitive in comparison to leading countries using similar systems. A significant increase in CF and YF values around 24% and 28.8% was achieved related to the use of single and dual systems, respectively.

Keywords: single-axis and dual-axis photovoltaic systems, capacity factor, final yield, Kuwait

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Authors: Aleksandr Nagay, Gulnoz Khamidullayeva

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It is known that an unbalanced intake of salt (NaCI), lifestyle and genetic predisposition to pathology is a key component of the risk and the development of essential hypertension (EH). Purpose: To study the relationship between salt-sensitivity and blood pressure (BP) on systolic (SBP) and diastolic (DBP) blood pressure, depending on the C825T polymorphism of GNB3 in individuals of Uzbek nationality with EH. Method: studied 148 healthy and 148 patients with EH with I-II degree (WHO/ISH, 2003) with disease duration 6,5±1,3 years. Investigation of the gene GNB3 was produced by PCR-RFLP method. Determination of salt-sensitivity was performed by the method of R. Henkin. Results: For a comparative analysis of BP, the groups with carriage of CТ and TT genotypes were combined. The analysis showed that carriers of CC genotype and low salt-sensitivity were determined by higher levels of SBP compared with carriers of CT and TT genotypes, and low salt-sensitivity of SBP: 166,2±4,3 against 158,2±9,1 mm Hg (p=0,000). A similar analysis on the values of DBP also showed significantly higher values of blood pressure in carriers of CC genotype DBP: 105,8±10,6 vs. 100,5±7,2 mm Hg, respectively (p=0,001). The average values of SBP and DBP in groups with carriers of CC genotype at medium or high salt-sensitivity in comparison with carriers of CT or TT genotype did not differ statistically SBP: 165,0±0,1 vs. 160,0±8,6 mm Hg (p=0,275) and DBP: 100,1±0,1 vs. 101,6±7,6 mm Hg (p=0,687), respectively. Conclusion: It is revealed that in patients with EH CC genotype of the gene GNB3 given salt-sensitivity has a negative effect on blood pressure profile. Since patients with EH with the CC genotype of GNB3 gene with low-salt taste sensitivity is determined by a higher level of blood pressure, both on SBP and DBP.

Keywords: salt sensitivity, essential hypertension EH, blood pressure BP, genetic predisposition

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Authors: Amer A. Hasan, Mehri Igci, Ersin Borazan, Rozhgar A. Khailany, Emine Bayraktar, Ahmet Arslan

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Gastric cancer (GC) has high morbidity and fatality rate in various countries and is still one of the most frequent and deadly diseases. Novel mitogenic and motogenic Gastrokine1 (GKN1) and Gastrokine 2 (GKN2) genes that are highly expressed in the normal stomach epithelium and plays an important role in maintaining the integrity and homeostasis of stomach mucosal epithelial cells. Significant loss of copy number and mRNA transcript of GKN1 and GKN2 gene expression were frequently observed in all types of gastric cancer. In this study, 47 paired samples that were grouped according to the types of gastric cancer and the clinical characteristics of the patients, including gender and average of age were investigated with gene expression analysis and mutation screening by monetering RT-PCR, SSCP and nucleotide sequencing techniques. Both GKN1 and GKN2 genes were observed significantly reduced found by (Wilcoxon signed rank test; p<0.05). As a result of gene screening, no mutation (no different genotype) was detected. It is considered that gene mutations are not the cause of inactivation of gastrokines. In conclusion, the mRNA expression level of GKN1 and GKN2 genes statistically was decreased regardless the gender, age or cancer type of patients. Reduced of gastrokine genes seems to occur at the initial steps of cancer development. In order to understand the investigation between gastric cancer and diagnostic biomarker; further analysis is necessary.

Keywords: gastric cancer, diagnostic biomarker, nucleotide sequencing, semi-quantitative RT-PCR

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Authors: Sepehr Moradi

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This study investigates the contribution of individual Australian Superfine Merino Wool (ASFW) and Inner Mongolia Cashmere (IMC) fibres strength behaviour to the breaking force variation (CVBF) and minimum fibre diameter (CVₘFD) induced by actual single fibre lengths and the combination of length and diameter groups. Mid-side samples were selected for the ASFW (n = 919) and IMC (n = 691) since it is assumed to represent the average of the whole fleece. The average (LₘFD) varied for ASFW and IMC by 36.6 % and 33.3 % from shortest to longest actual single fibre length and -21.2 % and -21.7 % between longest-coarsest and shortest-finest groups, respectively. The tensile properties of single animal fibres were characterised using Single Fibre Analyser (SIFAN 4). After normalising for diversity in fibre diameter at the position of breakage, the parameters, which explain the strength behaviour within actual fibre lengths and combination of length-diameter groups, were the Intrinsic Fibre Strength (IFS) (MPa), Min IFS (MPa), Max IFS (MPa) and Breaking force (BF) (cN). The average strength of single fibres varied extensively within actual length groups and within a combination of length-diameter groups. IFS ranged for ASFW and IMC from 419 to 355 MPa (-15.2 % range) and 353 to 319 (-9.6 % range) and BF from 2.2 to 3.6 (63.6 % range) and 3.2 to 5.3 cN (65.6 % range) from shortest to longest groups, respectively. Single fibre properties showed no differences within actual length groups and within a combination of length-diameter groups, or was there a strong interaction between the strength of single fibre (P > 0.05) within remaining and removing length-diameter groups. Longer-coarser fibre fractionation had a significant effect on BF and IFS and all of the length groups showed a considerable variance in single fibre strength that is accounted for by diversity in the diameter variation along the fibre. There are many concepts for the improvement of the stress-strain properties of animal fibres as a means of raising a single fibre strength by simultaneous changes in fibre length and diameter. Fibre fractionation over a given length directly for single fibre strength or using the variation traits of fibre diameter is an important process used to increase the strength of the single fibre.

Keywords: single animal fibre fractionation, actual length groups, strength variation, length-diameter groups, diameter variation along fibre

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Authors: Maud Mthembu, Tanusha Raniga, Michael Boecker

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In South Africa and Germany, countless number of children are raised by single mothers with little or no support from the biological fathers. As evidenced in literature, having an involved father living at home can have a positive influence in the life of a child and the mother can be supported in her role. Often single parenting is seen as a causative factor in numerous psychological and social challenges which are faced by children from single-parent households, which is an indication of a pathological lens of viewing single parenting. The empirical data from our study reveals that single mothers in formal employment experience social, economic and emotional hardships of parenting. However, a sense of determination to raise healthy and well-balanced children using economic and social capital accessible to them was one of the key findings. The participants reported visible and invisible sources of support which creates an enabling environment for them to negotiate the challenges of parenting without support from non-residence fathers. Using a qualitative paradigm, a total of twenty professional single mothers were interviewed in Germany and South Africa. Four key themes emerged from the data analysis namely; internal locus of control, positive new experiences, access to economic capital and dependable social support. This study suggests that single mothers who are economically self-reliant and have access to bonding social capital are able to cope with the demands of single parenting. Understanding this multi-dimensional experience of parenting by single parents in formal employment is important to advocate for supportive working conditions for mothers.

Keywords: child parenting, child protection, single parenting, social capital

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Authors: Thilina Ranaweera, Enes Makalic, John L. Hopper, Adrian Bickerstaffe

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Data are the primary asset of biomedical researchers, and the engine for both discovery and research translation. As the volume and complexity of research datasets increase, especially with new technologies such as large single nucleotide polymorphism (SNP) chips, so too does the requirement for software to manage, process and analyze the data. Researchers often need to execute complicated queries and conduct complex analyzes of large-scale datasets. Existing tools to analyze such data, and other types of high-dimensional data, unfortunately suffer from one or more major problems. They typically require a high level of computing expertise, are too simplistic (i.e., do not fit realistic models that allow for complex interactions), are limited by computing power, do not exploit the computing power of large-scale parallel architectures (e.g. supercomputers, GPU clusters etc.), or are limited in the types of analysis available, compounded by the fact that integrating new analysis methods is not straightforward. Solutions to these problems, such as those developed and implemented on parallel architectures, are currently available to only a relatively small portion of medical researchers with access and know-how. The past decade has seen a rapid expansion of data management systems for the medical domain. Much attention has been given to systems that manage phenotype datasets generated by medical studies. The introduction of heterogeneous genomic data for research subjects that reside in these systems has highlighted the need for substantial improvements in software architecture. To address this problem, we have developed SPARK, an enabling and translational system for medical research, leveraging existing high performance computing resources, and analysis techniques currently available or being developed. It builds these into The Ark, an open-source web-based system designed to manage medical data. SPARK provides a next-generation biomedical data management solution that is based upon a novel Micro-Service architecture and Big Data technologies. The system serves to demonstrate the applicability of Micro-Service architectures for the development of high performance computing applications. When applied to high-dimensional medical datasets such as genomic data, relational data management approaches with normalized data structures suffer from unfeasibly high execution times for basic operations such as insert (i.e. importing a GWAS dataset) and the queries that are typical of the genomics research domain. SPARK resolves these problems by incorporating non-relational NoSQL databases that have been driven by the emergence of Big Data. SPARK provides researchers across the world with user-friendly access to state-of-the-art data management and analysis tools while eliminating the need for high-level informatics and programming skills. The system will benefit health and medical research by eliminating the burden of large-scale data management, querying, cleaning, and analysis. SPARK represents a major advancement in genome research technologies, vastly reducing the burden of working with genomic datasets, and enabling cutting edge analysis approaches that have previously been out of reach for many medical researchers.

Keywords: biomedical research, genomics, information systems, software

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Authors: Jun Sung Go, Jong Kang Park, Jong Tae Kim

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As semi-conductor manufacturing technology evolves; the single event transient problem becomes more significant issue. Single event transient has a critical impact on both combinational and sequential logic circuits, so it is important to evaluate the soft error tolerance of the circuits at the design stage. In this paper, we present a soft error detecting simulation using scan chain. The simulation model generates a single event transient randomly in the circuit, and detects the soft error during the execution of the test patterns. We verified this model by inserting a scan chain in an 8051 microprocessor using 65 nm CMOS technology. While the test patterns generated by ATPG program are passing through the scan chain, we insert a single event transient and detect the number of soft errors per sub-module. The experiments show that the soft error rates per cell area of the SFR module is 277% larger than other modules.

Keywords: scan chain, single event transient, soft error, 8051 processor

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Authors: Jae Woong Sull, Sun Ha Jee

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High-density lipoprotein (HDL) cholesterol levels are associated with decreased risk of coronary artery disease. Several genome-wide association studies (GWAS) for HDL cholesterol levels have implicated cholesterol ester transfer protein (CETP) as possibly causal. We tested for the association between single nucleotide polymorphisms (SNPs) in CETP gene and HDL cholesterol levels in Korean population. Subjects were selected from the Korean Metabolic Syndrome Research Initiative study in the Bundang-Gu area. A total of 2,304 individuals from Bundang-Gu were recruited in 2008. Other subjects were selected from the Severance Hospital (N=4,294). SNP rs6499861 in the CETP gene was associated with mean HDL cholesterol levels (effect per allele -2.044 mg/dL, p=7.23×10-7). Subjects with the CG/GG genotype had a 1.46 -fold (range 1.24–1.72-fold) higher risk of having abnormal HDL cholesterol levels (<40 mg/dL) than subjects with the CC genotype. When analyzed by gender, the association of CETP was stronger in women than in men. When analyzed by physical activity behavior, the association with CETP was much stronger in male subjects with low physical activity (OR=1.54, 95% CI: 1.23-1.92, P=0.0001) than in male subjects with high physical activity. This study clearly demonstrates that genetic variants in CETP influence HDL cholesterol levels in Korean adults.

Keywords: CETP, HDL cholesterol, physical activity, polymorphisms

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Authors: Abdull Halim Abdull, Nasiman Sapari, Mohammad Haikal Asyraf Bin Anuar

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Although soil thermal properties are required in many areas to improve oil recovery, they are seldom measured on a routine basis. Reasons for this are unclear, but may be related to a lack of suitable instrumentation and entropy theory. We integrate single probe thermal gradient for the radial conduction of a short-duration heat pulse away from a single electrode source, and compared it with the theory for an instantaneously heated line source. By measuring the temperature response at a short distance from the line source, and applying short-duration heat-pulse theory, we can extract all the entropy properties, the thermal diffusivity, heat capacity, and conductivity, from a single heat-pulse measurement. Results of initial experiments carried out on air-dry sand and clay materials indicate that this heat-pulse method yields soil thermal properties that compare well with thermal properties measured by single electrode.

Keywords: entropy, single probe thermal gradient, soil thermal, probe heat

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Authors: Fan Gao, Lior Pachter

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The primary tool currently used to pre-process 10X Chromium single-cell ATAC-seq data is Cell Ranger, which can take very long to run on standard datasets. To facilitate rapid pre-processing that enables reproducible workflows, we present a suite of tools called scATAK for pre-processing single-cell ATAC-seq data that is 15 to 18 times faster than Cell Ranger on mouse and human samples. Our tool can also calculate chromatin interaction potential matrices, and generate open chromatin signal and interaction traces for cell groups. We use scATAK tool to explore the chromatin regulatory landscape of a healthy adult human brain and unveil cell-type specific features, and show that it provides a convenient and computational efficient approach for pre-processing single-cell ATAC-seq data.

Keywords: single-cell, ATAC-seq, bioinformatics, open chromatin landscape, chromatin interactome

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Authors: Wen-Yang Hu, Ranli Lu, Mark Maienschein-Cline, Danping Hu, Larisa Nonn, Toshi Shioda, Gail S. Prins

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Background: Genetic mutations are highly associated with increased prostate cancer risk. In addition to whole genome sequencing, somatic mutations can be identified by aligning transcriptome sequences to the human genome. Here we analyzed bulk RNAseq and single cell RNAseq data of human prostate cancer cells and their matched non-cancer cells in benign regions from 4 individual patients. Methods: Sequencing raw reads were aligned to the reference genome hg38 using STAR. Variants were annotated using Annovar with respect to overlap gene annotation information, effect on gene and protein sequence, and SIFT annotation of nonsynonymous variant effect. We determined cancer-specific novel alleles by comparing variant calls in cancer cells to matched benign cells from the same individual by selecting unique alleles that were only detected in the cancer samples. Results: In bulk RNAseq data from 3 patients, the most common variants were the noncoding mutations at UTR3/UTR5, and the major variant types were single-nucleotide polymorphisms (SNP) including frameshift mutations. C>T transversion is the most frequently presented substitution of SNP. A total of 222 genes carrying unique exonic or UTR variants were revealed in cancer cells across 3 patients but not in benign cells. Among them, transcriptome levels of 7 genes (CITED2, YOD1, MCM4, HNRNPA2B1, KIF20B, DPYSL2, NR4A1) were significantly up or down regulated in cancer stem cells. Out of the 222 commonly mutated genes in cancer, 19 have nonsynonymous variants and 11 are damaged genes with variants including SIFT, frameshifts, stop gain/loss, and insertions/deletions (indels). Two damaged genes, activating transcription factor 6 (ATF6) and histone demethylase KDM3A are of particular interest; the former is a survival factor for certain cancer cells while the later positively activates androgen receptor target genes in prostate cancer. Further, single cell RNAseq data of cancer cells and their matched non-cancer benign cells from both primary 2D and 3D tumoroid cultures were analyzed. Similar to the bulk RNAseq data, single cell RNAseq in cancer demonstrated that the exonic mutations are less common than noncoding variants, with SNPs including frameshift mutations the most frequently presented types in cancer. Compared to cancer stem cell enriched-3D tumoroids, 2D cancer cells carried 3-times higher variants, 8-times more coding mutations and 10-times more nonsynonymous SNP. Finally, in both 2D primary and 3D tumoroid cultures, cancer stem cells exhibited fewer coding mutations and noncoding SNP or insertions/deletions than non-stem cancer cells. Summary: Our study demonstrates the usefulness of bulk and single cell RNAseaq data in identifying somatic mutations in prostate cancer, providing an alternative method in screening candidate genes for prostate cancer diagnosis and potential therapeutic targets. Cancer stem cells carry fewer somatic mutations than non-stem cancer cells due to their inherited immortal stand DNA from parental stem cells that explains their long-lived characteristics.

Keywords: prostate cancer, stem cell, genomic mutation, RNAseq

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Authors: Gehan Moubarz, Atef M. F. Mohammed, Inas A. Saleh, Heba Mahdy-Abdallah, Amal Saad-Hussein

Abstract:

This study estimates the association between respiratory outcomes among employees of a secondary aluminum plant and airborne pollutants. Additionally, it looks into the relationship between pulmonary dysfunction in workers and XRCC1 gene polymorphisms. 110 exposed workers and 58 non-exposed workers participated in the study. Measurements have been conducted on SO₂, NO₂, and particulate particles. Pulmonary function was tested. Eosinophil cationic protein (ECP), C-reactive protein (CRP), matrix metalloproteinase-1 (MMP-1), interleukin 6 (IL6), GM-CSF, X-Ray Repair Cross Complementing 1 (XRCC1) protein, and genotyping of XRCC1 gene polymorphisms were examined. Results: The annual average concentrations of (PM₂.₅, PM₁₀, TSP, SO₂, and NO₂) were lower than the permissible limit. The areas around ovens, evaporators, and cold rolling mills exhibited the highest amounts. The majority of employees in these departments had impaired lung function. With longer exposure times, the exposed group's FEV1% and FVC% considerably reduced. The exposed workers had considerably higher XRCC1 levels. The evaluated inflammatory biomarkers showed no statistically significant difference. Conclusion: Aluminum workers are at risk of developing respiratory disorders. The level of serum XRCC1 may act as a biomarker that might be very useful for detecting susceptible workers.

Keywords: aluminum industry, particulate matter, SO₂, NO₂, lung function, XRCC1 gene polymorphism, XRCC1 protein, inflammatory biomarkers

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Authors: Jian Qu, Akira Shimazu

Abstract:

OOV (Out Of Vocabulary) terms are terms that cannot be found in many dictionaries. Although it is possible to translate such OOV terms, the translations do not provide any real information for a user. We present an OOV term definition extraction method by using information available from the Internet. We use features such as occurrence of the synonyms and location distances. We apply machine learning method to find the correct definitions for OOV terms. We tested our method on both biomedical type and name type OOV terms, our work outperforms existing work with an accuracy of 86.5%.

Keywords: information retrieval, definition retrieval, OOV (out of vocabulary), biomedical information retrieval

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Authors: Jefunnie Matahum, Yu-Chi Kuo, Chao-Ming Su, Tzong-Rong Ger

Abstract:

Magnetic cell labeling is of great importance in various applications in biomedical fields such as cell separation and cell sorting. Since analytical methods for quantification of cell uptake of magnetic nanoparticles (MNPs) are already well established, image analysis on single cell level still needs more characterization. This study reports an alternative non-destructive quantification methods of single-cell uptake of positively charged MNPs. Magnetophoresis experiments were performed to calculate the number of MNPs in a single cell. Mobility of magnetic cells and the area of intracellular MNP stained by Prussian blue were quantified by image processing software. ICP-MS experiments were also performed to confirm the internalization of MNPs to cells. Initial results showed that the magnetic cells incubated at 100 µg and 50 µg MNPs/mL concentration move at 18.3 and 16.7 µm/sec, respectively. There is also an increasing trend in the number and area of intracellular MNP with increasing concentration. These results could be useful in assessing the nanoparticle uptake in a single cell level.

Keywords: magnetic nanoparticles, single cell, magnetophoresis, image analysis

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Authors: Hiroyuki Aoki

Abstract:

The glass transition phenomenon has been extensively studied for a long time. The glass transition of polymer materials is assigned to the transition of the dynamics of the chain backbone segment. However, the detailed mechanism of the transition behavior of the segmental motion is still unclear. In the current work, the single molecule detection technique was employed to reveal the trajectory of the molecular motion of the single polymer chain. The center segment of poly(butyl methacrylate) chain was labeled by a perylenediimide dye molecule and observed by a highly sensitive fluorescence microscope in a defocus condition. The translational and rotational diffusion of the center segment in a single polymer chain was analyzed near the glass transition temperature. The direct observation of the individual polymer chains revealed the intermittent behavior of the segmental motion, indicating the spatial inhomogeneity.

Keywords: glass transition, molecular motion, polymer materials, single molecule

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Authors: Idette Sheirina Biyo, Rhodora Lynn C. Lintag

Abstract:

This paper explores how the work-life balance of selected working single mothers situated in a coastal community is affecting their well-being. Working single mothers carry the responsibility of earning for their family while simultaneously exercising their motherhood. This study utilized a purposeful qualitative research through semi-structured interviews among ten working single mothers living in the coastal community of La Huerta, Parañaque in order to identify the following: a) experiences of the working single mothers, b) problems usually encountered, and c) how these problems are affecting their well-being. Dorothy Smith’s Feminist Standpoint theory is used as a theoretical lens in order to explain their work-life balance. Results have shown that despite their dual roles as the main income earners and heads of the households, they are not neglecting to care for their well-being. They consider getting sufficient rest, eating well, and going to church as forms of caring for their well-being. Other factors that affect their work-life balance include living arrangements, work hours, type of work, and income.

Keywords: coastal community, well-being, work-life balance, Working single mother

Procedia PDF Downloads 206