Search results for: miRNA:mRNA target prediction
3918 Big Data in Telecom Industry: Effective Predictive Techniques on Call Detail Records
Authors: Sara ElElimy, Samir Moustafa
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Mobile network operators start to face many challenges in the digital era, especially with high demands from customers. Since mobile network operators are considered a source of big data, traditional techniques are not effective with new era of big data, Internet of things (IoT) and 5G; as a result, handling effectively different big datasets becomes a vital task for operators with the continuous growth of data and moving from long term evolution (LTE) to 5G. So, there is an urgent need for effective Big data analytics to predict future demands, traffic, and network performance to full fill the requirements of the fifth generation of mobile network technology. In this paper, we introduce data science techniques using machine learning and deep learning algorithms: the autoregressive integrated moving average (ARIMA), Bayesian-based curve fitting, and recurrent neural network (RNN) are employed for a data-driven application to mobile network operators. The main framework included in models are identification parameters of each model, estimation, prediction, and final data-driven application of this prediction from business and network performance applications. These models are applied to Telecom Italia Big Data challenge call detail records (CDRs) datasets. The performance of these models is found out using a specific well-known evaluation criteria shows that ARIMA (machine learning-based model) is more accurate as a predictive model in such a dataset than the RNN (deep learning model).Keywords: big data analytics, machine learning, CDRs, 5G
Procedia PDF Downloads 1403917 Correlation Between Hydrogen Charging and Charpy Impact of 4340 Steel
Authors: J. Alcisto, M. Papakyriakou, J. Guerra, A. Dominguez, M. Miller, J. Foyos, E. Jones, N. Ula, M. Hahn, L. Zeng, Y. Li, O. S. Es-Said
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Current methods of testing for hydrogen charging are slow and time consuming. The objective of this paper was to determine if hydrogen charging can be detected quantitatively through the use of Charpy Impact (CI) testing. CI is a much faster and simpler process than current methods for detecting hydrogen charging. Steel plates were Electro Discharge Machined (EDM) into ninety-six 4340 steel CI samples and forty-eight tensile bars. All the samples were heat treated at 900°C to austentite and then rapidly quenched in water to form martensite. The samples were tempered at eight different target strengths/target temperatures (145, 160, 170, 180, 190, 205, 220, to 250KSI, thousands of pounds per square inch)/(1100, 1013, 956, 898, 840, 754, 667, 494 degrees Celsius). After a tedious process of grinding and machining v-notches to the Charpy samples, they were divided into four groups. One group was kept as received baseline for comparison while the other three groups were sent to Alcoa (Fasteners) Inc. in Torrance to be cadmium coated. The three groups were coated with three thicknesses (2, 3 and 5 mils). That means that the samples were charged with ascending hydrogen levels. The samples were CI tested and tensile tested, and the data was tabulated and compared to the baseline group of uncharged samples of the same material. The results of this study were successful and indicated that CI testing was able to quantitatively detect hydrogen charging.Keywords: Charpy impact toughness, hydrogen charging, 4340 steel, Electro Discharge Machined (EDM)
Procedia PDF Downloads 2983916 Quantitative Evaluation of Endogenous Reference Genes for ddPCR under Salt Stress Using a Moderate Halophile
Authors: Qinghua Xing, Noha M. Mesbah, Haisheng Wang, Jun Li, Baisuo Zhao
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Droplet digital PCR (ddPCR) is being increasingly adopted for gene detection and quantification because of its higher sensitivity and specificity. According to previous observations and our lab data, it is essential to use endogenous reference genes (RGs) when investigating gene expression at the mRNA level under salt stress. This study aimed to select and validate suitable RGs for gene expression under salt stress using ddPCR. Six candidate RGs were selected based on the tandem mass tag (TMT)-labeled quantitative proteomics of Alkalicoccus halolimnae at four salinities. The expression stability of these candidate genes was evaluated using statistical algorithms (geNorm, NormFinder, BestKeeper and RefFinder). There was a small fluctuation in cycle threshold (Ct) value and copy number of the pdp gene. Its expression stability was ranked in the vanguard of all algorithms, and was the most suitable RG for quantification of expression by both qPCR and ddPCR of A. halolimnae under salt stress. Single RG pdp and RG combinations were used to normalize the expression of ectA, ectB, ectC, and ectD under four salinities. The present study constitutes the first systematic analysis of endogenous RG selection for halophiles responding to salt stress. This work provides a valuable theory and an approach reference of internal control identification for ddPCR-based stress response models.Keywords: endogenous reference gene, salt stress, ddPCR, RT-qPCR, Alkalicoccus halolimnae
Procedia PDF Downloads 1063915 Effective Stacking of Deep Neural Models for Automated Object Recognition in Retail Stores
Authors: Ankit Sinha, Soham Banerjee, Pratik Chattopadhyay
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Automated product recognition in retail stores is an important real-world application in the domain of Computer Vision and Pattern Recognition. In this paper, we consider the problem of automatically identifying the classes of the products placed on racks in retail stores from an image of the rack and information about the query/product images. We improve upon the existing approaches in terms of effectiveness and memory requirement by developing a two-stage object detection and recognition pipeline comprising of a Faster-RCNN-based object localizer that detects the object regions in the rack image and a ResNet-18-based image encoder that classifies the detected regions into the appropriate classes. Each of the models is fine-tuned using appropriate data sets for better prediction and data augmentation is performed on each query image to prepare an extensive gallery set for fine-tuning the ResNet-18-based product recognition model. This encoder is trained using a triplet loss function following the strategy of online-hard-negative-mining for improved prediction. The proposed models are lightweight and can be connected in an end-to-end manner during deployment to automatically identify each product object placed in a rack image. Extensive experiments using Grozi-32k and GP-180 data sets verify the effectiveness of the proposed model.Keywords: retail stores, faster-RCNN, object localization, ResNet-18, triplet loss, data augmentation, product recognition
Procedia PDF Downloads 1573914 Feature Analysis of Predictive Maintenance Models
Authors: Zhaoan Wang
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Research in predictive maintenance modeling has improved in the recent years to predict failures and needed maintenance with high accuracy, saving cost and improving manufacturing efficiency. However, classic prediction models provide little valuable insight towards the most important features contributing to the failure. By analyzing and quantifying feature importance in predictive maintenance models, cost saving can be optimized based on business goals. First, multiple classifiers are evaluated with cross-validation to predict the multi-class of failures. Second, predictive performance with features provided by different feature selection algorithms are further analyzed. Third, features selected by different algorithms are ranked and combined based on their predictive power. Finally, linear explainer SHAP (SHapley Additive exPlanations) is applied to interpret classifier behavior and provide further insight towards the specific roles of features in both local predictions and global model behavior. The results of the experiments suggest that certain features play dominant roles in predictive models while others have significantly less impact on the overall performance. Moreover, for multi-class prediction of machine failures, the most important features vary with type of machine failures. The results may lead to improved productivity and cost saving by prioritizing sensor deployment, data collection, and data processing of more important features over less importance features.Keywords: automated supply chain, intelligent manufacturing, predictive maintenance machine learning, feature engineering, model interpretation
Procedia PDF Downloads 1333913 Non-Linear Assessment of Chromatographic Lipophilicity and Model Ranking of Newly Synthesized Steroid Derivatives
Authors: Milica Karadzic, Lidija Jevric, Sanja Podunavac-Kuzmanovic, Strahinja Kovacevic, Anamarija Mandic, Katarina Penov Gasi, Marija Sakac, Aleksandar Okljesa, Andrea Nikolic
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The present paper deals with chromatographic lipophilicity prediction of newly synthesized steroid derivatives. The prediction was achieved using in silico generated molecular descriptors and quantitative structure-retention relationship (QSRR) methodology with the artificial neural networks (ANN) approach. Chromatographic lipophilicity of the investigated compounds was expressed as retention factor value logk. For QSRR modeling, a feedforward back-propagation ANN with gradient descent learning algorithm was applied. Using the novel sum of ranking differences (SRD) method generated ANN models were ranked. The aim was to distinguish the most consistent QSRR model that can be found, and similarity or dissimilarity between the models that could be noticed. In this study, SRD was performed with average values of retention factor value logk as reference values. An excellent correlation between experimentally observed retention factor value logk and values predicted by the ANN was obtained with a correlation coefficient higher than 0.9890. Statistical results show that the established ANN models can be applied for required purpose. This article is based upon work from COST Action (TD1305), supported by COST (European Cooperation in Science and Technology).Keywords: artificial neural networks, liquid chromatography, molecular descriptors, steroids, sum of ranking differences
Procedia PDF Downloads 3223912 Prediction for DC-AC PWM Inverters DC Pulsed Current Sharing from Passive Parallel Battery-Supercapacitor Energy Storage Systems
Authors: Andreas Helwig, John Bell, Wangmo
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Hybrid energy storage systems (HESS) are gaining popularity for grid energy storage (ESS) driven by the increasingly dynamic nature of energy demands, requiring both high energy and high power density. Particularly the ability of energy storage systems via inverters to respond to increasing fluctuation in energy demands, the combination of lithium Iron Phosphate (LFP) battery and supercapacitor (SC) is a particular example of complex electro-chemical devices that may provide benefit to each other for pulse width modulated DC to AC inverter application. This is due to SC’s ability to respond to instantaneous, high-current demands and batteries' long-term energy delivery. However, there is a knowledge gap on the current sharing mechanism within a HESS supplying a load powered by high-frequency pulse-width modulation (PWM) switching to understand the mechanism of aging in such HESS. This paper investigates the prediction of current utilizing various equivalent circuits for SC to investigate sharing between battery and SC in MATLAB/Simulink simulation environment. The findings predict a significant reduction of battery current when the battery is used in a hybrid combination with a supercapacitor as compared to a battery-only model. The impact of PWM inverter carrier switching frequency on current requirements was analyzed between 500Hz and 31kHz. While no clear trend emerged, models predicted optimal frequencies for minimized current needs.Keywords: hybrid energy storage, carrier frequency, PWM switching, equivalent circuit models
Procedia PDF Downloads 283911 Agreement between Basal Metabolic Rate Measured by Bioelectrical Impedance Analysis and Estimated by Prediction Equations in Obese Groups
Authors: Orkide Donma, Mustafa M. Donma
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Basal metabolic rate (BMR) is widely used and an accepted measure of energy expenditure. Its principal determinant is body mass. However, this parameter is also correlated with a variety of other factors. The objective of this study is to measure BMR and compare it with the values obtained from predictive equations in adults classified according to their body mass index (BMI) values. 276 adults were included into the scope of this study. Their age, height and weight values were recorded. Five groups were designed based on their BMI values. First group (n = 85) was composed of individuals with BMI values varying between 18.5 and 24.9 kg/m2. Those with BMI values varying from 25.0 to 29.9 kg/m2 constituted Group 2 (n = 90). Individuals with 30.0-34.9 kg/m2, 35.0-39.9 kg/m2, > 40.0 kg/m2 were included in Group 3 (n = 53), 4 (n = 28) and 5 (n = 20), respectively. The most commonly used equations to be compared with the measured BMR values were selected. For this purpose, the values were calculated by the use of four equations to predict BMR values, by name, introduced by Food and Agriculture Organization (FAO)/World Health Organization (WHO)/United Nations University (UNU), Harris and Benedict, Owen and Mifflin. Descriptive statistics, ANOVA, post-Hoc Tukey and Pearson’s correlation tests were performed by a statistical program designed for Windows (SPSS, version 16.0). p values smaller than 0.05 were accepted as statistically significant. Mean ± SD of groups 1, 2, 3, 4 and 5 for measured BMR in kcal were 1440.3 ± 210.0, 1618.8 ± 268.6, 1741.1 ± 345.2, 1853.1 ± 351.2 and 2028.0 ± 412.1, respectively. Upon evaluation of the comparison of means among groups, differences were highly significant between Group 1 and each of the remaining four groups. The values were increasing from Group 2 to Group 5. However, differences between Group 2 and Group 3, Group 3 and Group 4, Group 4 and Group 5 were not statistically significant. These insignificances were lost in predictive equations proposed by Harris and Benedict, FAO/WHO/UNU and Owen. For Mifflin, the insignificance was limited only to Group 4 and Group 5. Upon evaluation of the correlations of measured BMR and the estimated values computed from prediction equations, the lowest correlations between measured BMR and estimated BMR values were observed among the individuals within normal BMI range. The highest correlations were detected in individuals with BMI values varying between 30.0 and 34.9 kg/m2. Correlations between measured BMR values and BMR values calculated by FAO/WHO/UNU as well as Owen were the same and the highest. In all groups, the highest correlations were observed between BMR values calculated from Mifflin and Harris and Benedict equations using age as an additional parameter. In conclusion, the unique resemblance of the FAO/WHO/UNU and Owen equations were pointed out. However, mean values obtained from FAO/WHO/UNU were much closer to the measured BMR values. Besides, the highest correlations were found between BMR calculated from FAO/WHO/UNU and measured BMR. These findings suggested that FAO/WHO/UNU was the most reliable equation, which may be used in conditions when the measured BMR values are not available.Keywords: adult, basal metabolic rate, fao/who/unu, obesity, prediction equations
Procedia PDF Downloads 1333910 Modeling of CREB Pathway Induced Gene Induction: From Stimulation to Repression
Authors: K. Julia Rose Mary, Victor Arokia Doss
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Electrical and chemical stimulations up-regulate phosphorylaion of CREB, a transcriptional factor that induces its target gene production for memory consolidation and Late Long-Term Potentiation (L-LTP) in CA1 region of the hippocampus. L-LTP requires complex interactions among second-messenger signaling cascade molecules such as cAMP, CAMKII, CAMKIV, MAPK, RSK, PKA, all of which converge to phosphorylate CREB which along with CBP induces the transcription of target genes involved in memory consolidation. A differential equation based model for L-LTP representing stimulus-mediated activation of downstream mediators which confirms the steep, supralinear stimulus-response effects of activation and inhibition was used. The same was extended to accommodate the inhibitory effect of the Inducible cAMP Early Repressor (ICER). ICER is the natural inducible CREB antagonist represses CRE-Mediated gene transcription involved in long-term plasticity for learning and memory. After verifying the sensitivity and robustness of the model, we had simulated it with various empirical levels of repressor concentration to analyse their effect on the gene induction. The model appears to predict the regulatory dynamics of repression on the L-LTP and agrees with the experimental values. The flux data obtained in the simulations demonstrate various aspects of equilibrium between the gene induction and repression.Keywords: CREB, L-LTP, mathematical modeling, simulation
Procedia PDF Downloads 2953909 Hansen Solubility Parameter from Surface Measurements
Authors: Neveen AlQasas, Daniel Johnson
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Membranes for water treatment are an established technology that attracts great attention due to its simplicity and cost effectiveness. However, membranes in operation suffer from the adverse effect of membrane fouling. Bio-fouling is a phenomenon that occurs at the water-membrane interface, and is a dynamic process that is initiated by the adsorption of dissolved organic material, including biomacromolecules, on the membrane surface. After initiation, attachment of microorganisms occurs, followed by biofilm growth. The biofilm blocks the pores of the membrane and consequently results in reducing the water flux. Moreover, the presence of a fouling layer can have a substantial impact on the membrane separation properties. Understanding the mechanism of the initiation phase of biofouling is a key point in eliminating the biofouling on membrane surfaces. The adhesion and attachment of different fouling materials is affected by the surface properties of the membrane materials. Therefore, surface properties of different polymeric materials had been studied in terms of their surface energies and Hansen solubility parameters (HSP). The difference between the combined HSP parameters (HSP distance) allows prediction of the affinity of two materials to each other. The possibilities of measuring the HSP of different polymer films via surface measurements, such as contact angle has been thoroughly investigated. Knowing the HSP of a membrane material and the HSP of a specific foulant, facilitate the estimation of the HSP distance between the two, and therefore the strength of attachment to the surface. Contact angle measurements using fourteen different solvents on five different polymeric films were carried out using the sessile drop method. Solvents were ranked as good or bad solvents using different ranking method and ranking was used to calculate the HSP of each polymeric film. Results clearly indicate the absence of a direct relation between contact angle values of each film and the HSP distance between each polymer film and the solvents used. Therefore, estimating HSP via contact angle alone is not sufficient. However, it was found if the surface tensions and viscosities of the used solvents are taken in to the account in the analysis of the contact angle values, a prediction of the HSP from contact angle measurements is possible. This was carried out via training of a neural network model. The trained neural network model has three inputs, contact angle value, surface tension and viscosity of solvent used. The model is able to predict the HSP distance between the used solvent and the tested polymer (material). The HSP distance prediction is further used to estimate the total and individual HSP parameters of each tested material. The results showed an accuracy of about 90% for all the five studied filmsKeywords: surface characterization, hansen solubility parameter estimation, contact angle measurements, artificial neural network model, surface measurements
Procedia PDF Downloads 943908 Understanding the Motivations behind the Assassination of Turkish Armenian Journalist, Hrant Dink
Authors: Nusret Mesut Sahin
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Hrant Dink, a prominent Turkish-Armenian journalist, and editor-in-chief of the bilingual Turkish-Armenian newspaper Agos was assassinated in Istanbul on January 19th, 2007 by a nationalist extremist, Ogun Samast. Dink had been voicing the atrocities against the Armenians between 1915 and 1922 during the Ottoman rule, and his comments on the issue appeared in the Turkish media many times before his assassination. It has been argued that the suffocating atmosphere created by the Turkish news media targeting Mr. Dink made him a target of an extremist Turkish juvenile. This study analyzes the media news to understand and explain why Hrant Dink became the target of a nationalist extremist. In this research, content analysis of news articles (N= 170) is conducted to identify whether there is a link between hate speech against Hrant Dink in the Turkish media and his assassination. The content of the newspaper articles is categorized and coded according to the hate language being used. The analysis suggested that Turkish media paved the way for Dink’s assassination. Hate speech against Hrant Dink on the media had risen gradually before the assassination. The study also found that the number of news stories covering hate speech and racist discourse against non-Muslim citizens of Turkey also increased dramatically before the assassination. Therefore, hate speech against minorities in media narratives and news reports should be monitored, and political figures or leaders of social groups who are targeted by some media outlets should be protected.Keywords: Hrant Dink, assassination, Turkish Armenian journalist, media
Procedia PDF Downloads 1613907 Clustering of Natural and Nature Derived Compounds for Cardiovascular Disease: Pharmacophore Modeling
Authors: S. Roy, R. Rekha, K. Sriram, G. Subhadra, R. Johana
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Cardiovascular disease remains a leading cause of death in most industrialized countries. Many chemical drugs are available in the market which targets different receptor proteins related to cardiovascular diseases. Of late the traditional herbal drugs are safer when compared to chemical drugs because of its side effects. However, many herbal remedies used in treating cardiovascular diseases have not undergone scientific assessment to prove its pharmacological activities. There are many natural compounds, nature derived and Natural product mimic compounds are available which are in the market as approved drug. In the most of the cases drug activity at the molecular level are not known. Here we have categorized those compounds with our experimental compounds in different classes based on the structural similarity and physicochemical properties, using a tool, Chemmine and has attempted to understand the mechanism of the action of a experimental compound, which are clustered with Simvastatin, Lovastatin, Mevastatin and Pravastatin. Target protein molecule for Simvastatin, Lovastatin, Mevastatin and Pravastatin is HMG-CoA reductase, so we concluded that the experimental compound may be able to bind to the same target. Molecular docking and atomic interaction studies with simvastatin and our experimental compound were compared. A pharmacophore modeling was done based on the experimental compound and HMG-CoA reductase inhibitor.Keywords: molecular docking, physicochemical properties, pharmacophore modeling structural similarity, pravastatin
Procedia PDF Downloads 3223906 Study of the Persian Gulf’s and Oman Sea’s Numerical Tidal Currents
Authors: Fatemeh Sadat Sharifi
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In this research, a barotropic model was employed to consider the tidal studies in the Persian Gulf and Oman Sea, where the only sufficient force was the tidal force. To do that, a finite-difference, free-surface model called Regional Ocean Modeling System (ROMS), was employed on the data over the Persian Gulf and Oman Sea. To analyze flow patterns of the region, the results of limited size model of The Finite Volume Community Ocean Model (FVCOM) were appropriated. The two points were determined since both are one of the most critical water body in case of the economy, biology, fishery, Shipping, navigation, and petroleum extraction. The OSU Tidal Prediction Software (OTPS) tide and observation data validated the modeled result. Next, tidal elevation and speed, and tidal analysis were interpreted. Preliminary results determine a significant accuracy in the tidal height compared with observation and OTPS data, declaring that tidal currents are highest in Hormuz Strait and the narrow and shallow region between Iranian coasts and Islands. Furthermore, tidal analysis clarifies that the M_2 component has the most significant value. Finally, the Persian Gulf tidal currents are divided into two branches: the first branch converts from south to Qatar and via United Arab Emirate rotates to Hormuz Strait. The secondary branch, in north and west, extends up to the highest point in the Persian Gulf and in the head of Gulf turns counterclockwise.Keywords: numerical model, barotropic tide, tidal currents, OSU tidal prediction software, OTPS
Procedia PDF Downloads 1333905 Profiling Risky Code Using Machine Learning
Authors: Zunaira Zaman, David Bohannon
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This study explores the application of machine learning (ML) for detecting security vulnerabilities in source code. The research aims to assist organizations with large application portfolios and limited security testing capabilities in prioritizing security activities. ML-based approaches offer benefits such as increased confidence scores, false positives and negatives tuning, and automated feedback. The initial approach using natural language processing techniques to extract features achieved 86% accuracy during the training phase but suffered from overfitting and performed poorly on unseen datasets during testing. To address these issues, the study proposes using the abstract syntax tree (AST) for Java and C++ codebases to capture code semantics and structure and generate path-context representations for each function. The Code2Vec model architecture is used to learn distributed representations of source code snippets for training a machine-learning classifier for vulnerability prediction. The study evaluates the performance of the proposed methodology using two datasets and compares the results with existing approaches. The Devign dataset yielded 60% accuracy in predicting vulnerable code snippets and helped resist overfitting, while the Juliet Test Suite predicted specific vulnerabilities such as OS-Command Injection, Cryptographic, and Cross-Site Scripting vulnerabilities. The Code2Vec model achieved 75% accuracy and a 98% recall rate in predicting OS-Command Injection vulnerabilities. The study concludes that even partial AST representations of source code can be useful for vulnerability prediction. The approach has the potential for automated intelligent analysis of source code, including vulnerability prediction on unseen source code. State-of-the-art models using natural language processing techniques and CNN models with ensemble modelling techniques did not generalize well on unseen data and faced overfitting issues. However, predicting vulnerabilities in source code using machine learning poses challenges such as high dimensionality and complexity of source code, imbalanced datasets, and identifying specific types of vulnerabilities. Future work will address these challenges and expand the scope of the research.Keywords: code embeddings, neural networks, natural language processing, OS command injection, software security, code properties
Procedia PDF Downloads 1093904 Using Wearable Device with Neuron Network to Classify Severity of Sleep Disorder
Authors: Ru-Yin Yang, Chi Wu, Cheng-Yu Tsai, Yin-Tzu Lin, Wen-Te Liu
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Background: Sleep breathing disorder (SDB) is a condition demonstrated by recurrent episodes of the airway obstruction leading to intermittent hypoxia and quality fragmentation during sleep time. However, the procedures for SDB severity examination remain complicated and costly. Objective: The objective of this study is to establish a simplified examination method for SDB by the respiratory impendence pattern sensor combining the signal processing and machine learning model. Methodologies: We records heart rate variability by the electrocardiogram and respiratory pattern by impendence. After the polysomnography (PSG) been done with the diagnosis of SDB by the apnea and hypopnea index (AHI), we calculate the episodes with the absence of flow and arousal index (AI) from device record. Subjects were divided into training and testing groups. Neuron network was used to establish a prediction model to classify the severity of the SDB by the AI, episodes, and body profiles. The performance was evaluated by classification in the testing group compared with PSG. Results: In this study, we enrolled 66 subjects (Male/Female: 37/29; Age:49.9±13.2) with the diagnosis of SDB in a sleep center in Taipei city, Taiwan, from 2015 to 2016. The accuracy from the confusion matrix on the test group by NN is 71.94 %. Conclusion: Based on the models, we established a prediction model for SDB by means of the wearable sensor. With more cases incoming and training, this system may be used to rapidly and automatically screen the risk of SDB in the future.Keywords: sleep breathing disorder, apnea and hypopnea index, body parameters, neuron network
Procedia PDF Downloads 1503903 Progress Towards Optimizing and Standardizing Fiducial Placement Geometry in Prostate, Renal, and Pancreatic Cancer
Authors: Shiva Naidoo, Kristena Yossef, Grimm Jimm, Mirza Wasique, Eric Kemmerer, Joshua Obuch, Anand Mahadevan
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Background: Fiducial markers effectively enhance tumor target visibility prior to Stereotactic Body Radiation Therapy or Proton therapy. To streamline clinical practice, fiducial placement guidelines from a robotic radiosurgery vendor were examined with the goals of optimizing and standardizing feasible geometries for each treatment indication. Clinical examples of prostate, renal, and pancreatic cases are presented. Methods: Vendor guidelines (Accuray, Sunnyvale, Ca) suggest implantation of 4–6 fiducials at least 20 mm apart, with at least a 15-degree angular difference between fiducials, within 50 mm or less from the target centroid, to ensure that any potential fiducial motion (e.g., from respiration or abdominal/pelvic pressures) will mimic target motion. Also recommended is that all fiducials can be seen in 45-degree oblique views with no overlap to coincide with the robotic radiosurgery imaging planes. For the prostate, a standardized geometry that meets all these objectives is a 2 cm-by-2 cm square in the coronal plane. The transperineal implant of two pairs of preloaded tandem fiducials makes the 2 cm-by-2 cm square geometry clinically feasible. This technique may be applied for renal cancer, except repositioned in a sagittal plane, with the retroperitoneal placement of the fiducials into the tumor. Pancreatic fiducial placement via endoscopic ultrasound (EUS) is technically more challenging, as fiducial placement is operator-dependent, and lesion access may be limited by adjacent vasculature, tumor location, or restricted mobility of the EUS probe in the duodenum. Fluoroscopically assisted fiducial placement during EUS can help ensure fiducial markers are deployed with optimal geometry and visualization. Results: Among the first 22 fiducial cases on a newly installed robotic radiosurgery system, live x-ray images for all nine prostatic cases had excellent fiducial visualization at the treatment console. Renal and pancreatic fiducials were not as clearly visible due to difficult target access and smaller caliber insertion needle/fiducial usage. The geometry of the first prostate case was used to ensure accurate geometric marker placement for the remaining 8 cases. Initially, some of the renal and pancreatic fiducials were closer than the 20 mm recommendation, and interactive feedback with the proceduralists led to subsequent fiducials being too far to the edge of the tumor. Further feedback and discussion of all cases are being used to help guide standardized geometries and achieve ideal fiducial placement. Conclusion: The ideal tradeoffs of fiducial visibility versus the thinnest possible gauge needle to avoid complications needs to be systematically optimized among all patients, particularly in regards to body habitus. Multidisciplinary collaboration among proceduralists and radiation oncologists can lead to improved outcomes.Keywords: fiducial, prostate cancer, renal cancer, pancreatic cancer, radiotherapy
Procedia PDF Downloads 933902 Anti-inflammatory Effect of Wild Indigo (Baptisia tinctoria) Root on Raw 264.7 Cells with Stimulated Lipopolysaccharide
Authors: Akhmadjon Sultanov, Eun-Ho Lee, Hye-Jin Park, Young-Je Cho
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This study tested the anti-inflammatory effect of wild indigo (Baptisia tinctoria) root in Raw 264.7 cells. We prepared two extracts of B. tinctoria; one in water and the other in 50% ethanol. Then we evaluated the toxicities of the B. tinctoria root extracts at 10 to 100 mg mL-1 concentrations in raw 264.7 cells and observed 80% cell viability. The anti-inflammatory effect of B. tinctoria root extract in lipopolysaccharide (LPS)-stimulated Raw 264.7 cells were observed with concentrations at 10, 30, and 50 μg mL-1. The results showed that 77.27-66.82% of nitric oxide (NO) production was inhibited by 50 μg mL-1 B. tinctoria root extract. The protein expression of Inducible NO synthase (iNOS) expression dramatically decreased by 93.14% and 52.65% in raw 264.7 cells treated with water and ethanol extracts of B. tinctoria root, respectively. Moreover, cyclooxygenase-2 (COX-2) protein expression decreased by 42.85% and 69.70% in raw 264.7 cells treated with water and ethanol extracts of B. tinctoria root, respectively. Furthermore, the mRNA expression of pro-inflammatory markers, such as tumor necrosis factor-alpha, interleukin-1β, interleukin-6, monocyte chemoattractant protein-1, and prostaglandin E synthase 2, was significantly suppressed in a concentration-dependent manner. Additionally, the B. tinctoria root extracts effectively inhibited enzymes involved in physiological activities. The B. tinctoria root extracts showed excellent anti-inflammatory effects and can be used as a functional material for biological activities.Keywords: cytokine, macrophage, pro-inflammatory, protein expression, real-time PCR
Procedia PDF Downloads 723901 Roundabout Implementation Analyses Based on Traffic Microsimulation Model
Authors: Sanja Šurdonja, Aleksandra Deluka-Tibljaš, Mirna Klobučar, Irena Ištoka Otković
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Roundabouts are a common choice in the case of reconstruction of an intersection, whether it is to improve the capacity of the intersection or traffic safety, especially in urban conditions. The regulation for the design of roundabouts is often related to driving culture, the tradition of using this type of intersection, etc. Individual values in the regulation are usually recommended in a wide range (this is the case in Croatian regulation), and the final design of a roundabout largely depends on the designer's experience and his/her choice of design elements. Therefore, before-after analyses are a good way to monitor the performance of roundabouts and possibly improve the recommendations of the regulation. This paper presents a comprehensive before-after analysis of a roundabout on the country road network near Rijeka, Croatia. The analysis is based on a thorough collection of traffic data (operating speeds and traffic load) and design elements data, both before and after the reconstruction into a roundabout. At the chosen location, the roundabout solution aimed to improve capacity and traffic safety. Therefore, the paper analyzed the collected data to see if the roundabout achieved the expected effect. A traffic microsimulation model (VISSIM) of the roundabout was created based on the real collected data, and the influence of the increase of traffic load and different traffic structures, as well as of the selected design elements on the capacity of the roundabout, were analyzed. Also, through the analysis of operating speeds and potential conflicts by application of the Surrogate Safety Assessment Model (SSAM), the traffic safety effect of the roundabout was analyzed. The results of this research show the practical value of before-after analysis as an indicator of roundabout effectiveness at a specific location. The application of a microsimulation model provides a practical method for analyzing intersection functionality from a capacity and safety perspective in present and changed traffic and design conditions.Keywords: before-after analysis, operating speed, capacity, design.
Procedia PDF Downloads 243900 Biodegradable Poly D,L-Lactide-Co-Glycolic Acid Microparticle Vaccine against Aeromonas hydrophila Infection
Authors: Saekil Yun, Sib Sankar Giri, Jin Woo Jun, Hyoun Joong Kim, Sang Guen Kim, Sang Wha Kim, Jung Woo Kang, Se Jin Han, Se Chang Park
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In aquaculture, vaccination is important to control and prevent diseases. In the study, we utilized poly D,L-lactide-co-glycolic acid (PLGA) microparticles (MPs) for encapsulating formalin-killed Aeromonas hydrophila cells. To assess the innate and adaptive immune responses, carps and loaches were used for the experiments. Fish were divided into three groups (A, B, C). Total antigen of 0.1 ml vaccine was adjusted by 2 x 108 CFU and injected via intraperitoneal route. Group A was vaccinated with 0.1 ml of PLGA vaccine, group B was with 0.1 ml of FKC vaccine and group C was with 0.1 ml of sterile PBS. All three groups were challenged with A. hydrophila and challenge dose was lethal dose (LD50). Loaches and carp were then challenged with A. hydrophila at 12 and 20 weeks post vaccination (wpv), and 10 and 14 wpv, respectively, and relative survival rates were calculated. For both fish species, the curve of antibody titer over time was shallower in the PLGA group than the FKC group and the PLGA groups demonstrated higher survival rates at all time-points. In the groups of PLGA-MP, relative mRNA levels of IL-1β, TNF-α, lysozyme C and IgM were significantly upregulated than FKC treated groups. Biodegradable PLGA microparticle vaccine could induce longer immune responses than original FKC vaccines to protect from A. hydrophila infection.Keywords: PLGA, microparticles, Aeromonas hydrophila, vaccine
Procedia PDF Downloads 2723899 Role of ABC-Type Efflux Transporters in Antifungal Resistance of Candida auris
Authors: Mohamed Mahdi Alshahni, Takashi Tamura, Koichi Makimura
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Objective: The objective of this study is to evaluate roles of ABC-type efflux transporters in the resistance of Candida auris against common antifungal agents. Material and Methods: A wild-type C. auris strain and its antifungal resistant derivative strain that is generated through induction by antifungal agents were used in this study. The strains were cultured onto media containing beauvericin alone or in combination with azole agents. Moreover, expression levels of four ABC-type transporter’s homologs in those strains were analyzed by real time PCR with or without antifungal stress by fluconazole or voriconazole. Results: Addition of beauvericin helped to partially restore the susceptibility of the resistant strain against fluconazole, suggesting participation of ABC-type transporters in the resistance mechanism. Real time PCR results showed that mRNA levels of three out of the four analyzed transporters in the resistant strain were more than 2-fold higher than their counterparts in the wild-type strain under negative control and antifungal agent-containing conditions. Conclusion: C. auris is an emerging multidrug-resistant pathogen causing human mortality worldwide. Providing effective treatment has been hampered by the resistance to antifungal drugs, demanding understanding the resistance mechanism in order to devise new therapeutic strategies. Our data suggest a partial contribution of ABC-type transporters to the resistance of this pathogen.Keywords: resistance, C. auris, transporters, antifungi
Procedia PDF Downloads 1703898 Predicting Personality and Psychological Distress Using Natural Language Processing
Authors: Jihee Jang, Seowon Yoon, Gaeun Son, Minjung Kang, Joon Yeon Choeh, Kee-Hong Choi
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Background: Self-report multiple choice questionnaires have been widely utilized to quantitatively measure one’s personality and psychological constructs. Despite several strengths (e.g., brevity and utility), self-report multiple-choice questionnaires have considerable limitations in nature. With the rise of machine learning (ML) and Natural language processing (NLP), researchers in the field of psychology are widely adopting NLP to assess psychological constructs to predict human behaviors. However, there is a lack of connections between the work being performed in computer science and that psychology due to small data sets and unvalidated modeling practices. Aims: The current article introduces the study method and procedure of phase II, which includes the interview questions for the five-factor model (FFM) of personality developed in phase I. This study aims to develop the interview (semi-structured) and open-ended questions for the FFM-based personality assessments, specifically designed with experts in the field of clinical and personality psychology (phase 1), and to collect the personality-related text data using the interview questions and self-report measures on personality and psychological distress (phase 2). The purpose of the study includes examining the relationship between natural language data obtained from the interview questions, measuring the FFM personality constructs, and psychological distress to demonstrate the validity of the natural language-based personality prediction. Methods: The phase I (pilot) study was conducted on fifty-nine native Korean adults to acquire the personality-related text data from the interview (semi-structured) and open-ended questions based on the FFM of personality. The interview questions were revised and finalized with the feedback from the external expert committee, consisting of personality and clinical psychologists. Based on the established interview questions, a total of 425 Korean adults were recruited using a convenience sampling method via an online survey. The text data collected from interviews were analyzed using natural language processing. The results of the online survey, including demographic data, depression, anxiety, and personality inventories, were analyzed together in the model to predict individuals’ FFM of personality and the level of psychological distress (phase 2).Keywords: personality prediction, psychological distress prediction, natural language processing, machine learning, the five-factor model of personality
Procedia PDF Downloads 793897 A Prediction Model for Dynamic Responses of Building from Earthquake Based on Evolutionary Learning
Authors: Kyu Jin Kim, Byung Kwan Oh, Hyo Seon Park
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The seismic responses-based structural health monitoring system has been performed to prevent seismic damage. Structural seismic damage of building is caused by the instantaneous stress concentration which is related with dynamic characteristic of earthquake. Meanwhile, seismic response analysis to estimate the dynamic responses of building demands significantly high computational cost. To prevent the failure of structural members from the characteristic of the earthquake and the significantly high computational cost for seismic response analysis, this paper presents an artificial neural network (ANN) based prediction model for dynamic responses of building considering specific time length. Through the measured dynamic responses, input and output node of the ANN are formed by the length of specific time, and adopted for the training. In the model, evolutionary radial basis function neural network (ERBFNN), that radial basis function network (RBFN) is integrated with evolutionary optimization algorithm to find variables in RBF, is implemented. The effectiveness of the proposed model is verified through an analytical study applying responses from dynamic analysis for multi-degree of freedom system to training data in ERBFNN.Keywords: structural health monitoring, dynamic response, artificial neural network, radial basis function network, genetic algorithm
Procedia PDF Downloads 3043896 Mix Proportioning and Strength Prediction of High Performance Concrete Including Waste Using Artificial Neural Network
Authors: D. G. Badagha, C. D. Modhera, S. A. Vasanwala
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There is a great challenge for civil engineering field to contribute in environment prevention by finding out alternatives of cement and natural aggregates. There is a problem of global warming due to cement utilization in concrete, so it is necessary to give sustainable solution to produce concrete containing waste. It is very difficult to produce designated grade of concrete containing different ingredient and water cement ratio including waste to achieve desired fresh and harden properties of concrete as per requirement and specifications. To achieve the desired grade of concrete, a number of trials have to be taken, and then after evaluating the different parameters at long time performance, the concrete can be finalized to use for different purposes. This research work is carried out to solve the problem of time, cost and serviceability in the field of construction. In this research work, artificial neural network introduced to fix proportion of concrete ingredient with 50% waste replacement for M20, M25, M30, M35, M40, M45, M50, M55 and M60 grades of concrete. By using the neural network, mix design of high performance concrete was finalized, and the main basic mechanical properties were predicted at 3 days, 7 days and 28 days. The predicted strength was compared with the actual experimental mix design and concrete cube strength after 3 days, 7 days and 28 days. This experimentally and neural network based mix design can be used practically in field to give cost effective, time saving, feasible and sustainable high performance concrete for different types of structures.Keywords: artificial neural network, high performance concrete, rebound hammer, strength prediction
Procedia PDF Downloads 1583895 The Transcriptional Regulation of Human LRWD1 through DNA Methylation
Authors: Yen-Ni Teng, Hsing-Yi Chen, Hsien-An Pan, Yung-Ming Lin, Hany A. Omar, Jui-Hsiang Hung
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Leucine-rich repeats and WD repeat domain containing 1 (LRWD1) is highly expressed in the testes of healthy males. On the other hand, LRWD1 is significantly down-regulated in the testicular tissues of patients with severe spermatogenic defects. In our study, the downregulation of LRWD1 expression by shRNA caused a significant reduction of cell growth and mitosis and a noteworthy increase in the cell microtubule atrophy rate. Here, we used EMBOSS CpG plot analysis to explore the promoter region of LRWD1 gene. We found that CpG islands are located between positions -253 to +5 nucleotides upstream from the LRWD1 transcription start site. Luciferase reporter assay revealed that the hypermethylation of the LRWD1 promoter reduced the transcription activity in cells. In addition, quantitative methylation-specific PCR and immunostaining showed that the methylation inhibitor, 5-Aza-2'-deoxycytidine, increased LRWD1 promoter activity, LRWD1 mRNA, protein expression and cell viability. Whereas, the methylation activator, S-adenosylmethionine, caused opposite effects. The overexpression of p53 and Nrf2 in NT2/D1 cells increased LRWD1 promoter activity while 5-fluorodeoxyuridine decreased it. In conclusion, this study highlights evidence that the methylation status of LRWD1 promoter is associated with LRWD1 expression. Since the expression level of LRWD1 plays an important role in spermatogenesis, the methylation status of LRWD1 may serve as a novel molecular diagnostic or therapeutic approach in male's infertility.Keywords: LRWD1, DNA methylation, p53, Nrf2
Procedia PDF Downloads 1483894 The Use of Water Resources Yield Model at Kleinfontein Dam
Authors: Lungile Maliba, O. I. Nkwonta, E Onyari
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Water resources development and management are regarded as crucial for poverty reduction in many developing countries and sustainable economic growth such as South Africa. The contribution of large hydraulic infrastructure and management of it, particularly reservoirs, to development remains controversial. This controversy stems from the fact that from a historical point of view construction of reservoirs has brought fewer benefits than envisaged and has resulted in significant environmental and social costs. A further complexity in reservoir management is the variety of stakeholders involved, all with different objectives, including domestic and industrial water use, flood control, irrigation and hydropower generation. The objective was to evaluate technical adaptation options for kleinfontein Dam’s current operating rule curves. To achieve this objective, the current operating rules curves being used in the sub-basin were analysed. An objective methodology was implemented in other to get the operating rules with regards to the target storage curves. These were derived using the Water Resources Yield/Planning Model (WRY/PM), with the aim of maximising of releases to demand zones. The result showed that the system is over allocated and in addition the demands exceed the long-term yield that is available for the system. It was concluded that the current operating rules in the system do not produce the optimum operation such as target storage curves to avoid supply failures in the system.Keywords: infrastructure, Kleinfontein dam, operating rule curve, water resources yield and planning model
Procedia PDF Downloads 1403893 The Effect of SIRT1 on NLRP3 (Nucleotide Oligomerization Domain-Like Receptor Family, Pyrin Domain Containing 3) Inflammasome of Osteoarthritis
Authors: So Youn Park, Yi Sle Lee, Ki Whan Hong, Chi Dae Kim
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The role of metabolism in the pathogenesis of osteoarthritis is an emerging field. Metabolic alterations may be a role in osteoarthritis (OA) pathogenesis, and these changes influence joint destruction via several cytokine. Especially, in OA patients, levels of IL-1β are elevated in the synovial fluid, synovial membrane, subchondral bone, and cartilage. The IL-1β is activated by NLRP3 inflammasomes, and NLRP3 inflammasomes are cytosolic complexes that drive the production of other inflammatory cytokines, including IL-1β. In this study, we examined that SIRT1 suppresses IL-1β through inhibiting NLRP3 inflammasomes and SIRT1 ameliorates osteoarthritis. OA fibroblasts were isolated from synovium of OA patients. IL-1β and NLRP3 were detected in synovium of OA patients by immunohistochemistry. Lipopolysaccharides (LPS) stimulated the expression of active IL-1β mRNA in OA fibroblasts and combination of LPS, and adenosine triphosphate increased more the expression of active IL-1β in OA fibroblasts. The level of IL-1β was measured by western blot and ELISA assay. NLRP3 inflammasomes complex were measured by western blot. SIRT1 did not inhibit expression of NLRP3 inflammasome. So caspase-1, apoptotic speck-like protein containing a caspase recruitment domain (ASC) and NLRP3 protein were expressed in OA fibroblasts. But SIRT1 suppressed activation of IL-1β by inhibiting activity of caspase-1 via NLRP3 inflammasome in OA fibroblasts under LPS plus ATP stimulation. These results suggest that SIRT1 is a modulator of NLRP3 inflammasomes in OA fibroblasts and ameliorate IL-1β, so expression of SIRT1 in OA fibroblast may be a potential strategy for OA inflammation treatment.Keywords: osteoarthritis, inflammasome, SIRT1, IL-1beta
Procedia PDF Downloads 1993892 Bionaut™: A Breakthrough Robotic Microdevice to Treat Non-Communicating Hydrocephalus in Both Adult and Pediatric Patients
Authors: Suehyun Cho, Darrell Harrington, Florent Cros, Olin Palmer, John Caputo, Michael Kardosh, Eran Oren, William Loudon, Alex Kiselyov, Michael Shpigelmacher
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Bionaut Labs, LLC is developing a minimally invasive robotic microdevice designed to treat non-communicating hydrocephalus in both adult and pediatric patients. The device utilizes biocompatible microsurgical particles (Bionaut™) that are specifically designed to safely and reliably perform accurate fenestration(s) in the 3rd ventricle, aqueduct of Sylvius, and/or trapped intraventricular cysts of the brain in order to re-establish normal cerebrospinal fluid flow dynamics and thereby balance and/or normalize intra/intercompartmental pressure. The Bionaut™ is navigated to the target via CSF or brain tissue in a minimally invasive fashion with precise control using real-time imaging. Upon reaching the pre-defined anatomical target, the external driver allows for directing the specific microsurgical action defined to achieve the surgical goal. Notable features of the proposed protocol are i) Bionaut™ access to the intraventricular target follows a clinically validated endoscopy trajectory which may not be feasible via ‘traditional’ rigid endoscopy: ii) the treatment is microsurgical, there are no foreign materials left behind post-procedure; iii) Bionaut™ is an untethered device that is navigated through the subarachnoid and intraventricular compartments of the brain, following pre-designated non-linear trajectories as determined by the safest anatomical and physiological path; iv) Overall protocol involves minimally invasive delivery and post-operational retrieval of the surgical Bionaut™. The approach is expected to be suitable to treat pediatric patients 0-12 months old as well as adult patients with obstructive hydrocephalus who fail traditional shunts or are eligible for endoscopy. Current progress, including platform optimization, Bionaut™ control, and real-time imaging and in vivo safety studies of the Bionauts™ in large animals, specifically the spine and the brain of ovine models, will be discussed.Keywords: Bionaut™, cerebrospinal fluid, CSF, fenestration, hydrocephalus, micro-robot, microsurgery
Procedia PDF Downloads 1723891 Exo-III Assisted Amplification Strategy through Target Recycling of Hg²⁺ Detection in Water: A GNP Based Label-Free Colorimetry Employing T-Rich Hairpin-Loop Metallobase
Authors: Abdul Ghaffar Memon, Xiao Hong Zhou, Yunpeng Xing, Ruoyu Wang, Miao He
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Due to deleterious environmental and health effects of the Hg²⁺ ions, various online, detection methods apart from the traditional analytical tools have been developed by researchers. Biosensors especially, label, label-free, colorimetric and optical sensors have advanced with sensitive detection. However, there remains a gap of ultrasensitive quantification as noise interact significantly especially in the AuNP based label-free colorimetry. This study reported an amplification strategy using Exo-III enzyme for target recycling of Hg²⁺ ions in a T-rich hairpin loop metallobase label-free colorimetric nanosensor with an improved sensitivity using unmodified gold nanoparticles (uGNPs) as an indicator. The two T-rich metallobase hairpin loop structures as 5’- CTT TCA TAC ATA GAA AAT GTA TGT TTG -3 (HgS1), and 5’- GGC TTT GAG CGC TAA GAA A TA GCG CTC TTT G -3’ (HgS2) were tested in the study. The thermodynamic properties of HgS1 and HgS2 were calculated using online tools (http://biophysics.idtdna.com/cgi-bin/meltCalculator.cgi). The lab scale synthesized uGNPs were utilized in the analysis. The DNA sequence had T-rich bases on both tails end, which in the presence of Hg²⁺ forms a T-Hg²⁺-T mismatch, promoting the formation of dsDNA. Later, the Exo-III incubation enable the enzyme to cleave stepwise mononucleotides from the 3’ end until the structure become single-stranded. These ssDNA fragments then adsorb on the surface of AuNPs in their presence and protect AuNPs from the induced salt aggregation. The visible change in color from blue (aggregation stage in the absence of Hg²⁺) and pink (dispersion state in the presence of Hg²⁺ and adsorption of ssDNA fragments) can be observed and analyzed through UV spectrometry. An ultrasensitive quantitative nanosensor employing Exo-III assisted target recycling of mercury ions through label-free colorimetry with nanomolar detection using uGNPs have been achieved and is further under the optimization to achieve picomolar range by avoiding the influence of the environmental matrix. The proposed strategy will supplement in the direction of uGNP based ultrasensitive, rapid, onsite, label-free colorimetric detection.Keywords: colorimetric, Exo-III, gold nanoparticles, Hg²⁺ detection, label-free, signal amplification
Procedia PDF Downloads 3123890 Localization of Geospatial Events and Hoax Prediction in the UFO Database
Authors: Harish Krishnamurthy, Anna Lafontant, Ren Yi
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Unidentified Flying Objects (UFOs) have been an interesting topic for most enthusiasts and hence people all over the United States report such findings online at the National UFO Report Center (NUFORC). Some of these reports are a hoax and among those that seem legitimate, our task is not to establish that these events confirm that they indeed are events related to flying objects from aliens in outer space. Rather, we intend to identify if the report was a hoax as was identified by the UFO database team with their existing curation criterion. However, the database provides a wealth of information that can be exploited to provide various analyses and insights such as social reporting, identifying real-time spatial events and much more. We perform analysis to localize these time-series geospatial events and correlate with known real-time events. This paper does not confirm any legitimacy of alien activity, but rather attempts to gather information from likely legitimate reports of UFOs by studying the online reports. These events happen in geospatial clusters and also are time-based. We look at cluster density and data visualization to search the space of various cluster realizations to decide best probable clusters that provide us information about the proximity of such activity. A random forest classifier is also presented that is used to identify true events and hoax events, using the best possible features available such as region, week, time-period and duration. Lastly, we show the performance of the scheme on various days and correlate with real-time events where one of the UFO reports strongly correlates to a missile test conducted in the United States.Keywords: time-series clustering, feature extraction, hoax prediction, geospatial events
Procedia PDF Downloads 3783889 In silico Analysis of a Causative Mutation in Cadherin-23 Gene Identified in an Omani Family with Hearing Loss
Authors: Mohammed N. Al Kindi, Mazin Al Khabouri, Khalsa Al Lamki, Tommasso Pappuci, Giovani Romeo, Nadia Al Wardy
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Hereditary hearing loss is a heterogeneous group of complex disorders with an overall incidence of one in every five hundred newborns presented as syndromic and non-syndromic forms. Cadherin-related 23 (CDH23) is one of the listed deafness causative genes. CDH23 is found to be expressed in the stereocilia of hair cells and the retina photoreceptor cells. Defective CDH23 has been associated mostly with prelingual severe-to-profound sensorineural hearing loss (SNHL) in either syndromic (USH1D) or non-syndromic SNHL (DFNB12). An Omani family diagnosed clinically with severe-profound sensorineural hearing loss was genetically analysed by whole exome sequencing technique. A novel homozygous missense variant, c.A7451C (p.D2484A), in exon 53 of CDH23 was detected. One hundred and thirty control samples were analysed where all were negative for the detected variant. The variant was analysed in silico for pathogenicity verification using several mutation prediction software. The variant proved to be a pathogenic mutation and is reported for the first time in Oman and worldwide. It is concluded that in silico mutation prediction analysis might be used as a useful molecular diagnostics tool benefiting both genetic counseling and mutation verification. The aspartic acid 2484 alanine missense substitution might be the main disease-causing mutation that damages CDH23 function and could be used as a genetic hearing loss marker for this particular Omani family.Keywords: Cdh23, d2484a, in silico, Oman
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