Search results for: functional optimization
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 6060

Search results for: functional optimization

1440 Incorporating Lexical-Semantic Knowledge into Convolutional Neural Network Framework for Pediatric Disease Diagnosis

Authors: Xiaocong Liu, Huazhen Wang, Ting He, Xiaozheng Li, Weihan Zhang, Jian Chen

Abstract:

The utilization of electronic medical record (EMR) data to establish the disease diagnosis model has become an important research content of biomedical informatics. Deep learning can automatically extract features from the massive data, which brings about breakthroughs in the study of EMR data. The challenge is that deep learning lacks semantic knowledge, which leads to impracticability in medical science. This research proposes a method of incorporating lexical-semantic knowledge from abundant entities into a convolutional neural network (CNN) framework for pediatric disease diagnosis. Firstly, medical terms are vectorized into Lexical Semantic Vectors (LSV), which are concatenated with the embedded word vectors of word2vec to enrich the feature representation. Secondly, the semantic distribution of medical terms serves as Semantic Decision Guide (SDG) for the optimization of deep learning models. The study evaluate the performance of LSV-SDG-CNN model on four kinds of Chinese EMR datasets. Additionally, CNN, LSV-CNN, and SDG-CNN are designed as baseline models for comparison. The experimental results show that LSV-SDG-CNN model outperforms baseline models on four kinds of Chinese EMR datasets. The best configuration of the model yielded an F1 score of 86.20%. The results clearly demonstrate that CNN has been effectively guided and optimized by lexical-semantic knowledge, and LSV-SDG-CNN model improves the disease classification accuracy with a clear margin.

Keywords: convolutional neural network, electronic medical record, feature representation, lexical semantics, semantic decision

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1439 Gender Features of Left Ventricular Myocardial Remodeling and the Development of Chronic Heart Failure in Patients with Postinfarction Cardiosclerosis

Authors: G. Dadashova, A. Bakhshaliyev

Abstract:

Aim: Determine gender differences in the etiology and clinical outcomes, as well as in the remodeling of the left ventricle (LV) in patients with chronic heart failure (CHF), suffering from arterial hypertension (AH) and coronary heart disease (CHD). Material and methods: The study included 112 patients of both sexes; aged 45 to 60 years with postinfarction cardiosclerosis had functional class (FC) heart failure II-IV of NYHA which were examined on the basis of Azerbaijan Scientific Research Institute of Cardiology. The patients were divided into 2 groups: 1st c. 60 males, mean age 54,8 ± 3,3 years, and 2nd gr 52 women, mean age 55,8 ± 3,1 years. To assess cardiac hemodynamic all patients underwent echocardiography (B-M-modes) using ‘Vivid 3’. Thus on the basis of indicators such as the index of the relative thickness of the left ventricle wall and the index of left ventricular mass (LVMI) was identified the architectonic model of the left ventricle. Results: According to our research leading cause of heart failure in women is 50.5% of cases of hypertension, ischemic heart disease 23.7% (with 79.5% of the cases developed in patients with chronic heart failure who did not have a history of myocardial infarction). While in men is the undisputed leader of CHD, forming 78.3% of CHF (80.3% in men with CHF occurred after myocardial infarction). According to our research in women more often than men CHF develops a type of diastolic dysfunction (DD, and left ventricular ejection fraction remained unchanged. Since DD occurs in men at 65,8% vs. 76,4% of women when p < 0,05. In the group of women was more common prognostic neblagopryatnye remodeling - eccentric hypertrophy of the left ventricle: 68% vs. 54.5% among men (p < 0,05), concentric left ventricular hypertrophy: 21% in women vs 19,1% (p > 0,05 ). Conclusions: Patients with heart failure are a number of gender-specific: the prevalence of hypertension in women, and coronary heart disease in men. While in women with heart failure often recorded diastolic dysfunction and characterized by the development of prognostically unfavorable remodeling types: eccentric and concentric LV hypertrophy.

Keywords: chronic heart failure, arterial hypertension, remodeling, diastolic dysfunction, men, women, ischemic heart disease

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1438 Synthesis and Properties of Chitosan-Graft-Polyacrylamide/Gelatin Superabsorbent Composites for Wastewater Purification

Authors: Hafida Ferfera-Harrar, Nacera Aiouaz, Nassima Dairi

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Super absorbents polymers received much attention and are used in many fields because of their superior characters to traditional absorbents, e.g., sponge and cotton. So, it is very important but challenging to prepare highly and fast-swelling super absorbents. A reliable, efficient and low-cost technique for removing heavy metal ions from waste water is the adsorption using bio-adsorbents obtained from biological materials, such as polysaccharides-based hydrogels super absorbents. In this study, novel multi-functional super absorbent composites type semi-interpenetrating polymer networks (Semi-IPNs) were prepared via graft polymerization of acrylamide onto chitosan backbone in presence of gelatin, CTS-g-PAAm/Ge, using potassium persulfate and N,N’ -methylenebisacrylamide as initiator and cross linker, respectively. These hydrogels were also partially hydrolyzed to achieve superabsorbents with ampholytic properties and uppermost swelling capacity. The formation of the grafted network was evidenced by Fourier Transform Infrared Spectroscopy (ATR-FTIR) and thermo gravimetric Analysis (TGA). The porous structures were observed by Scanning Electron Microscope (SEM). From TGA analysis, it was concluded that the incorporation of the Ge in the CTS-g-PAAm network has marginally affected its thermal stability. The effect of gelatin content on the swelling capacities of these super absorbent composites was examined in various media (distilled water, saline and pH-solutions).The water absorbency was enhanced by adding Ge in the network, where the optimum value was reached at 2 wt. % of Ge. Their hydrolysis has not only greatly optimized their absorption capacity but also improved the swelling kinetic. These materials have also showed reswelling ability. We believe that these super-absorbing materials would be very effective for the adsorption of harmful metal ions from waste water.

Keywords: chitosan, gelatin, superabsorbent, water absorbency

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1437 Creation of Ultrafast Ultra-Broadband High Energy Laser Pulses

Authors: Walid Tawfik

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The interaction of high intensity ultrashort laser pulses with plasma generates many significant applications, including soft x-ray lasers, time-resolved laser induced plasma spectroscopy LIPS, and laser-driven accelerators. The development in producing of femtosecond down to ten femtosecond optical pulses has facilitates scientists with a vital tool in a variety of ultrashort phenomena, such as high field physics, femtochemistry and high harmonic generation HHG. In this research, we generate a two-octave-wide ultrashort supercontinuum pulses with an optical spectrum extending from 3.5 eV (ultraviolet) to 1.3 eV (near-infrared) using a capillary fiber filled with neon gas. These pulses are formed according to nonlinear self-phase modulation in the neon gas as a nonlinear medium. The investigations of the created pulses were made using spectral phase interferometry for direct electric-field reconstruction (SPIDER). A complete description of the output pulses was considered. The observed characterization of the produced pulses includes the beam profile, the pulse width, and the spectral bandwidth. After reaching optimization conditions, the intensity of the reconstructed pulse autocorrelation function was applied for the shorts pulse duration to achieve transform limited ultrashort pulses with durations below 6-fs energies up to 600μJ. Moreover, the effect of neon pressure variation on the pulse width was examined. The nonlinear self-phase modulation realized to be increased with the pressure of the neon gas. The observed results may lead to an advanced method to control and monitor ultrashort transit interaction in femtochemistry.

Keywords: supercontinuum, ultrafast, SPIDER, ultra-broadband

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1436 Determining Factors for Successful Blended Learning in Higher Education: A Qualitative Study

Authors: Pia Wetzl

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The learning process of students can be optimized by combining online teaching with face-to-face sessions. So-called blended learning offers extensive flexibility as well as contact opportunities with fellow students and teachers. Furthermore, learning can be individualized and self-regulated. The aim of this article is to investigate which factors are necessary for blended learning to be successful. Semi-structured interviews were conducted with students (N = 60) and lecturers (N = 21) from different disciplines at two German universities. The questions focused on the perception of online, face-to-face and blended learning courses. In addition, questions focused on possible optimization potential and obstacles to practical implementation. The results show that on-site presence is very important for blended learning to be successful. If students do not get to know each other on-site, there is a risk of loneliness during the self-learning phases. This has a negative impact on motivation. From the perspective of the lecturers, the willingness of the students to participate in the sessions on-site is low. Especially when there is no obligation to attend, group work is difficult to implement because the number of students attending is too low. Lecturers would like to see more opportunities from the university and its administration to enforce attendance. In their view, this is the only way to ensure the success of blended learning. In addition, they see the conception of blended learning courses as requiring a great deal of time, which they are not always willing to invest. More incentives are necessary to keep the lecturers motivated to develop engaging teaching material. The study identifies factors that can help teachers conceptualize blended learning. It also provides specific implementation advice and identifies potential impacts. This catalogue has great value for the future-oriented development of courses at universities. Future studies could test its practical use.

Keywords: blended learning, higher education, teachers, student learning, qualitative research

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1435 Myosin-Driven Movement of Nanoparticles – An Approach to High-Speed Tracking

Authors: Sneha Kumari, Ravi Krishnan Elangovan

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This abstract describes the development of a high-speed tracking method by modification in motor components for nanoparticle attachment. Myosin motors are nano-sized protein machines powering movement that defines life. These miniature molecular devices serve as engines utilizing chemical energy stored in ATP to produce useful mechanical energy in the form of a few nanometre displacement events leading to force generation that is required for cargo transport, cell division, cell locomotion, translated to macroscopic movements like running etc. With the advent of in vitro motility assay (IVMA), detailed functional studies of the actomyosin system could be performed. The major challenge with the currently available IVMA for tracking actin filaments is a resolution limitation of ± 50nm. To overcome this, we are trying to develop Single Molecule IVMA in which nanoparticle (GNP/QD) will be attached along or on the barbed end of actin filaments using CapZ protein and visualization by a compact TIRF module called ‘cTIRF’. The waveguide-based illumination by cTIRF offers a unique separation of excitation and collection optics, enabling imaging by scattering without emission filters. So, this technology is well equipped to perform tracking with high precision in temporal resolution of 2ms with significantly improved SNR by 100-fold as compared to conventional TIRF. Also, the nanoparticles (QD/GNP) attached to actin filament act as a point source of light coffering ease in filament tracking compared to conventional manual tracking. Moreover, the attachment of cargo (QD/GNP) to the thin filament paves the way for various nano-technological applications through their transportation to different predetermined locations on the chip

Keywords: actin, cargo, IVMA, myosin motors and single-molecule system

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1434 Using Multi-Specialist Team to Care for a Breast Cancer Patient Who Received Total Mastectomy during Pregnancy

Authors: Yun-Tsuen Chen, Shih-Ting Huang, Pi-Fen Cheng, Heng-Hua Wang, Hui-Zhu Chen

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This paper discusses the experience of caring for a patient diagnosed with breast cancer and later received total mastectomy during a 2nd trimester pregnancy. She was hospitalized from January 31 to February 4, 2018. Using 'Gordon’s 11 Functional Health Patterns' through physical exams and interviews, the researcher assessed the patient’s physical and mental health and determined the patient to have anxiety, acute pain, and body image disturbance. After establishing a strong relationship with the patient, the researcher helped the patient express her anxiety and personal feelings. A multi-specialist team was formed to evaluate both the patient and her unborn child, before, during, and after surgery. This individualized care allowed the patient and her child to optimize the post-operative results. Aside from medication, the patient also received non-medicinal treatment, including improvement of sleep quality with body positioning, diaphragmatic breathing exercises for pain and stress relief after surgery. Throughout hospitalization, the patient’s physical and emotional needs were addressed daily with listening sessions and empathy. The patient’s husband was also incorporated in the patient’s recovery by teaching both he and the patient how to change the sterile wound dressing, which may have the added benefit of improving marital relationships through shared activities of nurturing. The patient was also given advice about how to improve self-confidence through clothing. Lastly, the patient was encouraged to join a support group for breast cancer patients. Through the sharing of experience in groups and within the family, the patient was helped to adapt to the change of her appearance and re-establish her self-confidence. This level of care expedited the patient’s return to her family life and role of being a mother.

Keywords: anxiety, body image disturbance, breast cancer during pregnancy, multi-specialist team

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1433 Characterization, Classification and Fertility Capability Classification of Three Rice Zones of Ebonyi State, Southeastern Nigeria

Authors: Sunday Nathaniel Obasi, Chiamak Chinasa Obasi

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Soil characterization and classification provide the basic information necessary to create a functional evaluation and soil classification schemes. Fertility capability classification (FCC) on the other hand is a technical system that groups the soils according to kinds of problems they present for management of soil physical and chemical properties. This research was carried out in Ebonyi state, southeastern Nigeria, which is an agrarian state and a leading rice producing part of southeastern Nigeria. In order to maximize the soil and enhance the productivity of rice in Ebonyi soils, soil classification, and fertility classification information need to be supplied. The state was grouped into three locations according to their agricultural zones namely; Ebonyi north, Ebonyi central and Ebonyi south representing Abakaliki, Ikwo and Ivo locations respectively. Major rice growing areas of the soils were located and two profile pits were sunk in each of the studied zones from which soils were characterized, classified and fertility capability classification (FCC) developed. Soil classification was done using United State Department of Agriculture (USDA) Soil Taxonomy and correlated with World Reference Base for soil resources. Results obtained classified Abakaliki 1 and Abakaliki 2 as Typic Fluvaquents (Ochric Fluvisols). Ikwo 1 was classified as Vertic Eutrudepts (Eutric Vertisols) while Ikwo 2 was classified as Typic Eutrudepts (Eutric Cambisols). Ivo 1 and Ivo 2 were both classified as Aquic Eutrudepts (Gleyic Leptosols). Fertility capability classification (FCC) revealed that all studied soils had mostly loamy topsoils and subsoils except Ikwo 1 with clayey topsoil. Limitations encountered in the studied soils include; dryness (d), low ECEC (e), low nutrient capital reserve (k) and water logging/ anaerobic condition (gley). Thus, FCC classifications were Ldek for Abakaliki 1 and 2, Ckv for Ikwo 1, LCk for Ikwo 2 while Ivo 1 and 2 were Legk and Lgk respectively.

Keywords: soil classification, soil fertility, limitations, modifiers, Southeastern Nigeria

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1432 3D Geomechanical Model the Best Solution of the 21st Century for Perforation's Problems

Authors: Luis Guiliana, Andrea Osorio

Abstract:

The lack of comprehension of the reservoir geomechanics conditions may cause operational problems that cost to the industry billions of dollars per year. The drilling operations at the Ceuta Field, Area 2 South, Maracaibo Lake, have been very expensive due to problems associated with drilling. The principal objective of this investigation is to develop a 3D geomechanical model in this area, in order to optimize the future drillings in the field. For this purpose, a 1D geomechanical model was built at first instance, following the workflow of the MEM (Mechanical Earth Model), this consists of the following steps: 1) Data auditing, 2) Analysis of drilling events and structural model, 3) Mechanical stratigraphy, 4) Overburden stress, 5) Pore pressure, 6) Rock mechanical properties, 7) Horizontal stresses, 8) Direction of the horizontal stresses, 9) Wellbore stability. The 3D MEM was developed through the geostatistic model of the Eocene C-SUP VLG-3676 reservoir and the 1D MEM. With this data the geomechanical grid was embedded. The analysis of the results threw, that the problems occurred in the wells that were examined were mainly due to wellbore stability issues. It was determined that the stress field change as the stratigraphic column deepens, it is normal to strike-slip at the Middle Miocene and Lower Miocene, and strike-slipe to reverse at the Eocene. In agreement to this, at the level of the Eocene, the most advantageous direction to drill is parallel to the maximum horizontal stress (157º). The 3D MEM allowed having a tridimensional visualization of the rock mechanical properties, stresses and operational windows (mud weight and pressures) variations. This will facilitate the optimization of the future drillings in the area, including those zones without any geomechanics information.

Keywords: geomechanics, MEM, drilling, stress

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1431 Magnetic Cellulase/Halloysite Nanotubes as Biocatalytic System for Converting Agro-Waste into Value-Added Product

Authors: Devendra Sillu, Shekhar Agnihotri

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The 'nano-biocatalyst' utilizes an ordered assembling of enzyme on to nanomaterial carriers to catalyze desirable biochemical kinetics and substrate selectivity. The current study describes an inter-disciplinary approach for converting agriculture waste, sugarcane bagasse into D-glucose exploiting halloysite nanotubes (HNTs) decorated cellulase enzyme as nano-biocatalytic system. Cellulase was successfully immobilized on HNTs employing polydopamine as an eco-friendly crosslinker while iron oxide nanoparticles were attached to facilitate magnetic recovery of material. The characterization studies (UV-Vis, TEM, SEM, and XRD) displayed the characteristic features of both cellulase and magnetic HNTs in the resulting nanocomposite. Various factors (i.e., working pH, temp., crosslinker conc., enzyme conc.) which may influence the activity of biocatalytic system were investigated. The experimental design was performed using Response Surface Methodology (RSM) for process optimization. Analyses data demonstrated that the nanobiocatalysts retained 80.30% activity even at elevated temperature (55°C) and excellent storage stabilities after 10 days. The repeated usage of system revealed a remarkable consistent relative activity over several cycles. The immobilized cellulase was employed to decompose agro-waste and the maximum decomposition rate of 67.2 % was achieved. Conclusively, magnetic HNTs can serve as a potential support for enzyme immobilization with long term usage, good efficacy, reusability and easy recovery from solution.

Keywords: halloysite nanotubes, enzyme immobilization, cellulase, response surface methodology, magnetic recovery

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1430 Building Successful Organizational Business Communication and Its Impact on Business Performance: An Intra- and Inter-Organizational Perspective

Authors: Aynura Valiyeva, Basil John Thomas

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Intra-firm communication is critical for building synergy amongst internal business units of a firm, where employees from various functional departments and ranks incorporate their decision-making, understanding of organizational objectives, as well as common norms and culture for better organizational effectiveness. This study builds on and assesses a framework of the causes and consequences of effective communication in business interactions between customer and supplier firms, and the path for efficient communication within a firm. The proposed study’s structural equation modeling (SEM) analysis based on 352 sample responses collected from firm representatives at different job positions ranging from marketing to logistics operations, reveals that, in the frame of reference of intra-organizational communication, organization characteristics and shared values, top management support and style of leadership, as well as information technology, are all significantly related to communication effectiveness. Furthermore, the frequency and variety of interactions enhance the outcome of communication, that improves a company’s performance. The results reveal that cultural factors are significantly related to communication effectiveness, as well as the shared beliefs and goals. In terms of organizational factors, leadership style, top management support and information technology are significant determinants of effective communication. Among the contextual factors, interaction frequency and diversity are found to be priority factors. This study also tests the relationship between supplier and supplier firm performance in the context of communication effectiveness, and finds that they are closely related, when trust and commitment is built between business partners. When firms do business in other multicultural contexts, language and shared values with destination country must be considered significant elements of communication process.

Keywords: business performance, intra-firm communication, inter-firm communication, structural equation modeling

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1429 Trading off Accuracy for Speed in Powerdrill

Authors: Filip Buruiana, Alexander Hall, Reimar Hofmann, Thomas Hofmann, Silviu Ganceanu, Alexandru Tudorica

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In-memory column-stores make interactive analysis feasible for many big data scenarios. PowerDrill is a system used internally at Google for exploration in logs data. Even though it is a highly parallelized column-store and uses in memory caching, interactive response times cannot be achieved for all datasets (note that it is common to analyze data with 50 billion records in PowerDrill). In this paper, we investigate two orthogonal approaches to optimize performance at the expense of an acceptable loss of accuracy. Both approaches can be implemented as outer wrappers around existing database engines and so they should be easily applicable to other systems. For the first optimization we show that memory is the limiting factor in executing queries at speed and therefore explore possibilities to improve memory efficiency. We adapt some of the theory behind data sketches to reduce the size of particularly expensive fields in our largest tables by a factor of 4.5 when compared to a standard compression algorithm. This saves 37% of the overall memory in PowerDrill and introduces a 0.4% relative error in the 90th percentile for results of queries with the expensive fields. We additionally evaluate the effects of using sampling on accuracy and propose a simple heuristic for annotating individual result-values as accurate (or not). Based on measurements of user behavior in our real production system, we show that these estimates are essential for interpreting intermediate results before final results are available. For a large set of queries this effectively brings down the 95th latency percentile from 30 to 4 seconds.

Keywords: big data, in-memory column-store, high-performance SQL queries, approximate SQL queries

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1428 Development and Optimization of Colon Targeted Drug Delivery System of Ayurvedic Churna Formulation Using Eudragit L100 and Ethyl Cellulose as Coating Material

Authors: Anil Bhandari, Imran Khan Pathan, Peeyush K. Sharma, Rakesh K. Patel, Suresh Purohit

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The purpose of this study was to prepare time and pH dependent release tablets of Ayurvedic Churna formulation and evaluate their advantages as colon targeted drug delivery system. The Vidangadi Churna was selected for this study which contains Embelin and Gallic acid. Embelin is used in Helminthiasis as therapeutic agent. Embelin is insoluble in water and unstable in gastric environment so it was formulated in time and pH dependent tablets coated with combination of two polymers Eudragit L100 and ethyl cellulose. The 150mg of core tablet of dried extract and lactose were prepared by wet granulation method. The compression coating was used in the polymer concentration of 150mg for both the layer as upper and lower coating tablet was investigated. The results showed that no release was found in 0.1 N HCl and pH 6.8 phosphate buffers for initial 5 hours and about 98.97% of the drug was released in pH 7.4 phosphate buffer in total 17 hours. The in vitro release profiles of drug from the formulation could be best expressed first order kinetics as highest linearity (r2= 0.9943). The results of the present study have demonstrated that the time and pH dependent tablets system is a promising vehicle for preventing rapid hydrolysis in gastric environment and improving oral bioavailability of Embelin and Gallic acid for treatment of Helminthiasis.

Keywords: embelin, gallic acid, Vidangadi Churna, colon targeted drug delivery

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1427 Statistical Assessment of Models for Determination of Soil–Water Characteristic Curves of Sand Soils

Authors: S. J. Matlan, M. Mukhlisin, M. R. Taha

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Characterization of the engineering behavior of unsaturated soil is dependent on the soil-water characteristic curve (SWCC), a graphical representation of the relationship between water content or degree of saturation and soil suction. A reasonable description of the SWCC is thus important for the accurate prediction of unsaturated soil parameters. The measurement procedures for determining the SWCC, however, are difficult, expensive, and time-consuming. During the past few decades, researchers have laid a major focus on developing empirical equations for predicting the SWCC, with a large number of empirical models suggested. One of the most crucial questions is how precisely existing equations can represent the SWCC. As different models have different ranges of capability, it is essential to evaluate the precision of the SWCC models used for each particular soil type for better SWCC estimation. It is expected that better estimation of SWCC would be achieved via a thorough statistical analysis of its distribution within a particular soil class. With this in view, a statistical analysis was conducted in order to evaluate the reliability of the SWCC prediction models against laboratory measurement. Optimization techniques were used to obtain the best-fit of the model parameters in four forms of SWCC equation, using laboratory data for relatively coarse-textured (i.e., sandy) soil. The four most prominent SWCCs were evaluated and computed for each sample. The result shows that the Brooks and Corey model is the most consistent in describing the SWCC for sand soil type. The Brooks and Corey model prediction also exhibit compatibility with samples ranging from low to high soil water content in which subjected to the samples that evaluated in this study.

Keywords: soil-water characteristic curve (SWCC), statistical analysis, unsaturated soil, geotechnical engineering

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1426 Intensive Intercultural English Language for Enhanced School Community Engagement: An Exploratory Study Applied to Parents from Language Backgrounds Other Than English in a Regional Australian Primary School

Authors: Ann Dashwood

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Using standard Australian English with confidence is a cultural expectation of parents of primary school aged children who want to engage effectively with their children’s teachers and school administration. That confidence in support of their children’s learning at school is seldom experienced by parents whose first language is not English. Sharing language with competence in an intercultural environment is the common denominator for meaningful communication and engagement to occur in a school community. Experience in relevant interactive sessions is known to enhance engagement and participation. The purpose of this paper is to identify interactional settings for which parents who are isolated from the daily use of functional Australian cultural language learned to engage more effectively in their children’s learning at school. The outcomes measured parents’ intercultural engagement with classroom teachers and attention to the school’s administrative procedures. The study used quantitative and qualitative methods. The principles of communicative task-based language learning combined with intercultural communication principles provided the theoretical base for intensive English task-based learning and engagement. The quantitative analysis examined data samples collected by classroom teachers and administrators and parents’ writing samples. Interviews and observations qualitatively informed the study. Currently significant numbers of projects are active in community centres and schools to enhance English language knowledge of parents from Language Backgrounds Other Than English (LBOTE). The study was significant to explore the effects of conducting intensive English with parents of varied English language backgrounds by targeting language use for social interactions in the community, specific engagement in school activities, cultural interaction with teachers and responsiveness to complying with school procedures.

Keywords: engagement, intercultural communication, LBOTE, school community

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1425 The Importance of Visual Communication in Artificial Intelligence

Authors: Manjitsingh Rajput

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Visual communication plays an important role in artificial intelligence (AI) because it enables machines to understand and interpret visual information, similar to how humans do. This abstract explores the importance of visual communication in AI and emphasizes the importance of various applications such as computer vision, object emphasis recognition, image classification and autonomous systems. In going deeper, with deep learning techniques and neural networks that modify visual understanding, In addition to AI programming, the abstract discusses challenges facing visual interfaces for AI, such as data scarcity, domain optimization, and interpretability. Visual communication and other approaches, such as natural language processing and speech recognition, have also been explored. Overall, this abstract highlights the critical role that visual communication plays in advancing AI capabilities and enabling machines to perceive and understand the world around them. The abstract also explores the integration of visual communication with other modalities like natural language processing and speech recognition, emphasizing the critical role of visual communication in AI capabilities. This methodology explores the importance of visual communication in AI development and implementation, highlighting its potential to enhance the effectiveness and accessibility of AI systems. It provides a comprehensive approach to integrating visual elements into AI systems, making them more user-friendly and efficient. In conclusion, Visual communication is crucial in AI systems for object recognition, facial analysis, and augmented reality, but challenges like data quality, interpretability, and ethics must be addressed. Visual communication enhances user experience, decision-making, accessibility, and collaboration. Developers can integrate visual elements for efficient and accessible AI systems.

Keywords: visual communication AI, computer vision, visual aid in communication, essence of visual communication.

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1424 Scoping Review of Biological Age Measurement Composed of Biomarkers

Authors: Diego Alejandro Espíndola-Fernández, Ana María Posada-Cano, Dagnóvar Aristizábal-Ocampo, Jaime Alberto Gallo-Villegas

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Background: With the increase in life expectancy, aging has been subject of frequent research, and therefore multiple strategies have been proposed to quantify the advance of the years based on the known physiology of human senescence. For several decades, attempts have been made to characterize these changes through the concept of biological age, which aims to integrate, in a measure of time, structural or functional variation through biomarkers in comparison with simple chronological age. The objective of this scoping review is to deepen the updated concept of measuring biological age composed of biomarkers in the general population and to summarize recent evidence to identify gaps and priorities for future research. Methods: A scoping review was conducted according to the five-phase methodology developed by Arksey and O'Malley through a search of five bibliographic databases to February 2021. Original articles were included with no time or language limit that described the biological age composed of at least two biomarkers in those over 18 years of age. Results: 674 articles were identified, of which 105 were evaluated for eligibility and 65 were included with information on the measurement of biological age composed of biomarkers. Articles from 1974 of 15 nationalities were found, most observational studies, in which clinical or paraclinical biomarkers were used, and 11 different methods described for the calculation of the composite biological age were informed. The outcomes reported were the relationship with the same measured biomarkers, specified risk factors, comorbidities, physical or cognitive functionality, and mortality. Conclusions: The concept of biological age composed of biomarkers has evolved since the 1970s and multiple methods of its quantification have been described through the combination of different clinical and paraclinical variables from observational studies. Future research should consider the population characteristics, and the choice of biomarkers against the proposed outcomes to improve the understanding of aging variables to direct effective strategies for a proper approach.

Keywords: biological age, biological aging, aging, senescence, biomarker

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1423 Heat Sink Optimization for a High Power Wearable Thermoelectric Module

Authors: Zohreh Soleimani, Sally Salome Shahzad, Stamatis Zoras

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As a result of current energy and environmental issues, the human body is known as one of the promising candidate for converting wasted heat to electricity (Seebeck effect). Thermoelectric generator (TEG) is one of the most prevalent means of harvesting body heat and converting that to eco-friendly electrical power. However, the uneven distribution of the body heat and its curvature geometry restrict harvesting adequate amount of energy. To perfectly transform the heat radiated by the body into power, the most direct solution is conforming the thermoelectric generators (TEG) with the arbitrary surface of the body and increase the temperature difference across the thermoelectric legs. Due to this, a computational survey through COMSOL Multiphysics is presented in this paper with the main focus on the impact of integrating a flexible wearable TEG with a corrugated shaped heat sink on the module power output. To eliminate external parameters (temperature, air flow, humidity), the simulations are conducted within indoor thermal level and when the wearer is stationary. The full thermoelectric characterization of the proposed TEG fabricated by a wavy shape heat sink has been computed leading to a maximum power output of 25µW/cm2 at a temperature gradient nearly 13°C. It is noteworthy that for the flexibility of the proposed TEG and heat sink, the applicability and efficiency of the module stay high even on the curved surfaces of the body. As a consequence, the results demonstrate the superiority of such a TEG to the most state of the art counterparts fabricated with no heat sink and offer a new train of thought for the development of self-sustained and unobtrusive wearable power suppliers which generate energy from low grade dissipated heat from the body.

Keywords: device simulation, flexible thermoelectric module, heat sink, human body heat

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1422 Research and Application of Multi-Scale Three Dimensional Plant Modeling

Authors: Weiliang Wen, Xinyu Guo, Ying Zhang, Jianjun Du, Boxiang Xiao

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Reconstructing and analyzing three-dimensional (3D) models from situ measured data is important for a number of researches and applications in plant science, including plant phenotyping, functional-structural plant modeling (FSPM), plant germplasm resources protection, agricultural technology popularization. It has many scales like cell, tissue, organ, plant and canopy from micro to macroscopic. The techniques currently used for data capture, feature analysis, and 3D reconstruction are quite different of different scales. In this context, morphological data acquisition, 3D analysis and modeling of plants on different scales are introduced systematically. The commonly used data capture equipment for these multiscale is introduced. Then hot issues and difficulties of different scales are described respectively. Some examples are also given, such as Micron-scale phenotyping quantification and 3D microstructure reconstruction of vascular bundles within maize stalks based on micro-CT scanning, 3D reconstruction of leaf surfaces and feature extraction from point cloud acquired by using 3D handheld scanner, plant modeling by combining parameter driven 3D organ templates. Several application examples by using the 3D models and analysis results of plants are also introduced. A 3D maize canopy was constructed, and light distribution was simulated within the canopy, which was used for the designation of ideal plant type. A grape tree model was constructed from 3D digital and point cloud data, which was used for the production of science content of 11th international conference on grapevine breeding and genetics. By using the tissue models of plants, a Google glass was used to look around visually inside the plant to understand the internal structure of plants. With the development of information technology, 3D data acquisition, and data processing techniques will play a greater role in plant science.

Keywords: plant, three dimensional modeling, multi-scale, plant phenotyping, three dimensional data acquisition

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1421 Aerodynamic Modeling Using Flight Data at High Angle of Attack

Authors: Rakesh Kumar, A. K. Ghosh

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The paper presents the modeling of linear and nonlinear longitudinal aerodynamics using real flight data of Hansa-3 aircraft gathered at low and high angles of attack. The Neural-Gauss-Newton (NGN) method has been applied to model the linear and nonlinear longitudinal dynamics and estimate parameters from flight data. Unsteady aerodynamics due to flow separation at high angles of attack near stall has been included in the aerodynamic model using Kirchhoff’s quasi-steady stall model. NGN method is an algorithm that utilizes Feed Forward Neural Network (FFNN) and Gauss-Newton optimization to estimate the parameters and it does not require any a priori postulation of mathematical model or solving of equations of motion. NGN method was validated on real flight data generated at moderate angles of attack before application to the data at high angles of attack. The estimates obtained from compatible flight data using NGN method were validated by comparing with wind tunnel values and the maximum likelihood estimates. Validation was also carried out by comparing the response of measured motion variables with the response generated by using estimates a different control input. Next, NGN method was applied to real flight data generated by executing a well-designed quasi-steady stall maneuver. The results obtained in terms of stall characteristics and aerodynamic parameters were encouraging and reasonably accurate to establish NGN as a method for modeling nonlinear aerodynamics from real flight data at high angles of attack.

Keywords: parameter estimation, NGN method, linear and nonlinear, aerodynamic modeling

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1420 Collagen Deposition in Lung Parenchyma Driven by Depletion of LYVE-1+ Macrophages Protects Emphysema and Loss of Airway Function

Authors: Yinebeb Mezgebu Dagnachew, Hwee Ying Lim, Liao Wupeng, Sheau Yng Lim, Lim Sheng Jie Natalie, Veronique Angeli

Abstract:

Collagen is essential for maintaining lung structure and function, and its remodeling has been associated with respiratory diseases, including chronic obstructive pulmonary disease (COPD). However, the cellular mechanisms driving collagen remodeling and the functional implications of this process in the pathophysiology of pulmonary diseases remain poorly understood. Using a mouse model of Lyve-1 expressing macrophage depletion, we found that the absence of this subpopulation of tissue-resident macrophage led to the preferential deposition of type I collagen fibers around the alveoli and bronchi in the steady state. Further analysis by polarized light microscopy revealed that the collagen fibers accumulating in the lungs depleted of Lyve-1+ macrophages were thicker and crosslinked. A decrease in MMP-9 gene expression and proteolytic activity, together with an increase in Col1a1, Timp-3 and Lox gene expression, accompanied the collagen alterations. Next, we investigated the effect of the collagen remodeling on the pathophysiology of COPD and airway function in mouse lacking Lyve-1+ macrophage exposed chronically to cigarette smoke (CS), a well-established animal model of COPD. We showed that the deposition of collagen protected mouse against the destruction of alveoli (emphysema) and bronchi thickening after CS exposure and prevented loss of airway function. Thus, we demonstrate that interstitial Lyve-1+ macrophages regulate the composition, amount, and architecture of the collagen network in the lungs and that such collagen remodeling functionally impacts the development of COPD. This study further supports the potential of targeting collagen as a promising approach to treating respiratory diseases.

Keywords: lung, extracellular matrix, chronic obstructive pulmonary disease, matrix metalloproteinases, collagen

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1419 Studying the Photodegradation Behavior of Microplastics Released from Agricultural Plastic Products to the Farmland

Authors: Maryam Salehi, Gholamreza Bonyadinejad

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The application of agricultural plastic products like mulch, greenhouse covers, and silage films is increasing due to their economic benefits in providing an early and better-quality harvest. In 2015, the 4 million tons (valued a 10.6 million USD) global market for agricultural plastic films was estimated to grow by 5.6% per year through 2030. Despite the short-term benefits provided by plastic products, their long-term sustainability issues and negative impacts on soil health are not well understood. After their removal from the field, some plastic residuals remain in the soil. Plastic residuals in farmlands may fragment to small particles called microplastics (d<5mm). The microplastics' exposure to solar radiation could alter their surface chemistry and make them susceptible to fragmentation. Thus, this study examined the photodegradation of low density polyethylene as the model microplastics that are released to the agriculture farmland. The variation of plastic’s surface chemistry, morphology, and bulk characteristics were studied after accelerated UV-A radiation experiments and sampling from an agricultural field. The Attenuated Total Reflectance Fourier Transform Spectroscopy (ATR-FTIR) and X-ray Photoelectron Spectroscopy (XPS) demonstrated the formation of oxidized surface functional groups onto the microplastics surface due to the photodegradation. The Differential Scanning Calorimetry (DSC) analysis revealed an increased crystallinity for the photodegraded microplastics compared to the new samples. The gel permeation chromatography (GPC) demonstrated the reduced molecular weight for the polymer due to the photodegradation. This study provides an important opportunity to advance understanding of soil pollution. Understanding the plastic residuals’ variations as they are left in the soil is providing a critical piece of information to better estimate the microplastics' impacts on environmental biodiversity, ecosystem sustainability, and food safety.

Keywords: soil health, plastic pollution, sustainability, photodegradation

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1418 Disruption of MoNUC1 Gene Mediates Conidiation in Magnaporthe oryzae

Authors: Irshad Ali Khan, Jian-Ping Lu, Xiao-Hong Liu, Fu-Cheng Lin

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This study reports the functional analysis of a gene MoNUC1 in M. oryzae, which is homologous to the Saccharomyces cerevisiae NUC1 encoding a mitochondrial nuclease protein. The MoNUC1 having a gene locus MGG_05324 is 1002-bp in length and encodes an identical protein of 333 amino acids. We disrupted the gene through gene disruption strategy and isolated two mutants confirmed by southern blotting. The deleted mutants were then used for phenotypic studies and their phenotypes were compared to those of the Guy-11 strain. The mutants were first grown on CM medium to find the effect of MoNUC1 gene disruption on colony growth and the mutants were found to show normal culture colony growth similar to that of the Guy-11 strain. Conidial germination and appressorial formation were also similar in both the mutants and Guy-11 strains showing that this gene plays no significant role in these phenotypes. For pathogenicity, the mutants and Guy-11 mycelium blocks were inoculated on blast susceptible barley seedlings and it was found that both the strains exhibited full pathogenicity showing coalesced and necrotic blast lesions suggesting that this gene is not involved in pathogenicity. Mating of the mutants with 2539 strain formed numerous perithecia showing that MoNUC1 is not essential for sexual reproduction in M. oryzae. However, the mutants were found to form reduced conidia (1.06±8.03B and 1.08±9.80B) than those of the Guy-11 strain (1.46±10.61A) and we conclude that this protein is not required for the blast fungus to cause pathogenicity but plays significant role in conidiation. Proteins of signal transduction pathways that could be disrupted/ intervened genetically or chemically could lead to antifungal products of important fungal cereal diseases and reduce rice yield losses. Tipping the balance toward understanding the whole of pathogenesis, rather than simply conidiation will take some time, but clearly presents the most exciting challenge of all.

Keywords: appressorium formation, conidiation, NUC1, Magnaporthe oryzae, pathogenicity

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1417 Evidence Theory Based Emergency Multi-Attribute Group Decision-Making: Application in Facility Location Problem

Authors: Bidzina Matsaberidze

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It is known that, in emergency situations, multi-attribute group decision-making (MAGDM) models are characterized by insufficient objective data and a lack of time to respond to the task. Evidence theory is an effective tool for describing such incomplete information in decision-making models when the expert and his knowledge are involved in the estimations of the MAGDM parameters. We consider an emergency decision-making model, where expert assessments on humanitarian aid from distribution centers (HADC) are represented in q-rung ortho-pair fuzzy numbers, and the data structure is described within the data body theory. Based on focal probability construction and experts’ evaluations, an objective function-distribution centers’ selection ranking index is constructed. Our approach for solving the constructed bicriteria partitioning problem consists of two phases. In the first phase, based on the covering’s matrix, we generate a matrix, the columns of which allow us to find all possible partitionings of the HADCs with the service centers. Some constraints are also taken into consideration while generating the matrix. In the second phase, based on the matrix and using our exact algorithm, we find the partitionings -allocations of the HADCs to the centers- which correspond to the Pareto-optimal solutions. For an illustration of the obtained results, a numerical example is given for the facility location-selection problem.

Keywords: emergency MAGDM, q-rung orthopair fuzzy sets, evidence theory, HADC, facility location problem, multi-objective combinatorial optimization problem, Pareto-optimal solutions

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1416 The Effects of Placement and Cross-Section Shape of Shear Walls in Multi-Story RC Buildings with Plan Irregularity on Their Seismic Behavior by Using Nonlinear Time History Analyses

Authors: Mohammad Aminnia, Mahmood Hosseini

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Environmental and functional conditions sometimes necessitate the architectural plan of the building to be asymmetric, and this result in an asymmetric structure. In such cases, finding an optimal pattern for locating the components of the lateral load bearing system, including shear walls, in the building’s plan is desired. In case of shear walls, in addition to the location, the shape of the wall cross-section is also an effective factor. Various types of shear wall and their proper layout might come effective in better stiffness distribution and more appropriate seismic response of the building. Several studies have been conducted in the context of analysis and design of shear walls; however, few studies have been performed on making decisions for the location and form of shear walls in multi-story buildings, especially those with irregular plan. In this study, an attempt has been made to obtain the most reliable seismic behavior of multi-story reinforced concrete vertically chamfered buildings by using more appropriate shear walls form and arrangement in 7-, 10-, 12-, and 15-story buildings. The considered forms and arrangements include common rectangular walls and L-, T-, U- and Z-shaped plan, located as the core or in the outer frames of the building structure. Comparison of seismic behaviors of the buildings, including maximum roof displacement, and particularly the formation of plastic hinges and their distribution in the buildings’ structures, have been done based on the results of a series of nonlinear time history analyses by using a set of selected earthquake records. Results show that shear walls with U-shaped cross-section, placed as the building central core, and also walls with Z-shaped cross-section, placed at the corners give the building more reliable seismic behavior.

Keywords: vertically chamfered buildings, non-linear time history analyses, l-, t-, u- and z-shaped plan walls

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1415 Assessing the Impact of Construction Projects on Disabled Accessibility and Inclusion

Authors: Yasser Aboel-Magd

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This research addresses the critical issue of accessibility for individuals with special needs and the broader implications of disability on one's ability to lead an independent and integrated life within society. It highlights the consequences of injury, illness, or disability not only on the physical level but also on psychological, social, educational, economic, and functional aspects of life. The study emphasizes the importance of inclusive design in urban spaces, reflecting on how a society's treatment of individuals with disabilities serves as a measure of its progress. The research delves into the challenges faced by people with special needs in the Kingdom, where, despite advancements in various sectors, there is a noticeable lack of accommodating public opportunities for this significant demographic. It argues for the necessity of a Saudi building code that considers the needs of a diverse population during the design phase. The paper discusses the role of urban space as a fundamental element in urban formation and its impact on the societal integration of individuals with special needs. The study explores a variety of inclusive design principles, ranging from physical features like ramps and tactile paving to digital and cognitive accessibility measures such as screen readers, closed captions, plain language, and visual aids. It also considers the impact of wayfinding and appropriate lighting design on the orientation and assistance of individuals within urban spaces at the lowest cost. The researchers connect inclusive design with sustainable practices, advocating for environments that are not only environmentally friendly but also adaptable and lasting. The paper concludes with the assertion that the integration of accessibility, universal design, and sustainability signifies a society's commitment to inclusivity and the empowerment of all individuals, paving the way for a future where everyone can participate fully and independently in society.

Keywords: accessibility, inclusive design, Saudi building code, disability inclusion, socioeconomic progress

Procedia PDF Downloads 98
1414 The Effectiveness of Laser In situ Keratomileusis for Correction Various Types of Refractive Anomalies

Authors: Yuliya Markava

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The laser in situ keratomileusis (LASIK) is widely common surgical procedure, which has become an alternative for patients who are not satisfied with the performance of other correction methods. A high level of patient satisfaction functional outcomes after refractive surgery confirms the high reliability and safety of LASIK and provides a significant improvement in the quality of life and social adaptation. Purpose: To perform clinical analysis of the results of correction made to the excimer laser system SCHWIND AMARIS 500E in patients with different types of refractive anomalies. Materials and Methods: This was a retrospective analysis of 1581 operations (812 patients): 413 males (50.86%) and 399 females (49.14%) at the age from 18 to 47 years with different types of ametropia. All operations were performed on excimer laser SCHWIND AMARIS 500E in the LASIK procedure. Formation of the corneal flap was made by mechanical microkeratome SCHWIND. Results: Analyzing the structure of refractive anomalies: The largest number of interventions accounted for myopia: 1505 eyes (95.2%), of which about a low myopia: 706 eyes (44.7%), moderate myopia: 562 eyes (35.5 %), high myopia: eyes 217 (13.7%) and supermyopia: 20 eyes (1.3%). Hyperopia was 0.7% (11 eyes), mixed astigmatism: 4.1% (65 eyes). The efficiency was 80% (in patients with supermyopia) to 91.6% and 95.4% (in groups with myopia low and moderate, respectively). Uncorrected visual acuity average values before and after laser operation was in groups: a low myopia 0.18 (up 0.05 to 0.31) and 0.80 (up 0.60 to 1.0); moderate myopia 0.08 (up 0.03 to 0.13) and 0.87 ( up 0.74 to 1.0); high myopia 0.05 (up 0.02 to 0.08) and 0.83 (up 0.66 to 1.0); supermyopia 0.03 (up 0.02 to 0.04) and 0.59 ( up 0.34 to 0.84); hyperopia 0.27 (up 0.16 to 0.38) and 0.57 (up 0.27 to 0.87); mixed astigmatism of 0.35 (up 0.19 to 0.51) and 0.69 (up 0.44 to 0.94). In all cases, after LASIK indicators uncorrected visual acuity significantly increased. Reoperation was 4.43%. Significance: Clinical results of refractive surgery at the excimer laser system SCHWIND AMARIS 500E in different ametropia correction is characterized by high efficiency.

Keywords: effectiveness of laser correction, LASIK, refractive anomalies, surgical treatment

Procedia PDF Downloads 252
1413 Rule of Natural Synthetic Chemical on Lead Immobilization in Polluted Sandy Soils

Authors: Saud S. AL Oud

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Soil contamination can have dire consequences, such as loss of ecosystem and agricultural productivity, diminished food chain quality, tainted water resources, economic loss, and human and animal illness. In recent years, attention has focused on the development of in situ immobilization methods that are generally less expensive and disruptive to the natural landscape, hydrology, and ecosystems than are conventional excavation treatments, and disposal methods. Soft, inexpensive, and efficient agents were used in the present research to immobilize Pb in polluted sandy soil. Five agents, either naturally occurring or chemically prepared, were used for this purpose. These agents include; iron ore (72% Fe2O3), cement, a mixture of calcite and shale rich in aluminum (CASH), and two chemically prepared amorphous materials of Al- and Fe-gel. These agents were selected due to their ability to specifically adsorb heavy metals onto their surface OH functional groups, which provide permanent immobilization of metal pollutants and reduce the fraction that is potentially mobile or bioavailable. The efficiency of these agents in immobilizing Pb were examined in a laboratory experiment, in which two rates (0.5 and 1.0 %) of tested agents were added to the polluted soils containing total contents of Pb ranging from 17.4-49.8 mg/kg. The results show that all immobilizing agents were succeed in minimizing the mobile form of Pb as extracted by 0.5 N HNO3. The extracted Pb decreased with increasing addition rate of immobilizing agents. At addition rate of 0.5%, HNO3 extractable-Pb varied widely depending on the agents type and were found to represent 21-67% of the initial values. All agents were able to reduce mobile Pb to levels lower than that (2.0 mg/kg) reported for non polluted soil, particularly for soils had initials of mobile Pb less than 10 mg/kg. Both iron oxide and CASH had the highest efficiency in immobilizing Pb, followed by cement, then amorphous materials of Fe and Al hydroxides.

Keywords: soil, synthetic chemical, lead, immobilization, polluted

Procedia PDF Downloads 240
1412 Analysis of ZBTB17 Gene rs10927875 Polymorphism in Relation to Dilated Cardiomyopathy in Slovak Population

Authors: I. Boroňová, J. Bernasovská, J. Kmec, E. Petrejčíková

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Dilated cardiomyopathy (DCM) is a primary myocardial disease, it is characterized by progressive systolic dysfunction due to cardiac chamber dilatation and inefficient myocardial contractility with estimated prevalence of 37 in 100 000 people. It is the most frequent cause of heart failure and cardiac transplantation in young adults. About one-third of all patients have a suspected familial disease indicating a genetic basis of DCM. Many candidate gene studies in humans have tested the association of single nucleotide polymorphisms (SNPs) in various genes coding for proteins with a known cardiovascular function. In our study we present the results of ZBTB17 gene rs10927875 polymorphism genotyping in relation to dilated cardiomyopathy in Slovak population. The study included 78 individuals, 39 patients with DCM and 39 healthy control persons. The mean age of patients with DCM was 50.7±11.5 years; the mean age of individuals in control group was 51.3±9.8 years. Risk factors detected at baseline in each group included age, sex, body mass index, smoking status, diabetes and blood pressure. Genomic DNA was extracted from leukocytes by a standard methodology and screened for rs10927875 polymorphism in intron of ZBTB17 gene using Real-time PCR method (Step One Applied Biosystems). The distribution of investigated genotypes for rs10927875 polymorphism in the group of patients with DCM was as follows: CC (89.74%), CT (10.26%), TT (0%), and the distribution in the control group: CC (92.31%), CT (5.13%), and TT (2.56%). Using the chi-square (χ2) test we compared genotype and allele frequencies between patients and controls. There was no difference in genotype or allele frequencies in ZBTB17 gene rs10927875 polymorphism between patients and control group (χ2=3.028, p=0.220; χ2=0.264, p=0.608). Our results represent an initial study, it can be considered as preliminary and first of its kind in Slovak population. Further studies of ZBTB17 gene polymorphisms of more numerous files and additional functional investigations are needed to fully understand the role of genetic associations.

Keywords: dilated cardiomyopathy, SNP polymorphism, ZBTB17 gene, bioscience

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1411 Whole Exome Sequencing Data Analysis of Rare Diseases: Non-Coding Variants and Copy Number Variations

Authors: S. Fahiminiya, J. Nadaf, F. Rauch, L. Jerome-Majewska, J. Majewski

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Background: Sequencing of protein coding regions of human genome (Whole Exome Sequencing; WES), has demonstrated a great success in the identification of causal mutations for several rare genetic disorders in human. Generally, most of WES studies have focused on rare variants in coding exons and splicing-sites where missense substitutions lead to the alternation of protein product. Although focusing on this category of variants has revealed the mystery behind many inherited genetic diseases in recent years, a subset of them remained still inconclusive. Here, we present the result of our WES studies where analyzing only rare variants in coding regions was not conclusive but further investigation revealed the involvement of non-coding variants and copy number variations (CNV) in etiology of the diseases. Methods: Whole exome sequencing was performed using our standard protocols at Genome Quebec Innovation Center, Montreal, Canada. All bioinformatics analyses were done using in-house WES pipeline. Results: To date, we successfully identified several disease causing mutations within gene coding regions (e.g. SCARF2: Van den Ende-Gupta syndrome and SNAP29: 22q11.2 deletion syndrome) by using WES. In addition, we showed that variants in non-coding regions and CNV have also important value and should not be ignored and/or filtered out along the way of bioinformatics analysis on WES data. For instance, in patients with osteogenesis imperfecta type V and in patients with glucocorticoid deficiency, we identified variants in 5'UTR, resulting in the production of longer or truncating non-functional proteins. Furthermore, CNVs were identified as the main cause of the diseases in patients with metaphyseal dysplasia with maxillary hypoplasia and brachydactyly and in patients with osteogenesis imperfecta type VII. Conclusions: Our study highlights the importance of considering non-coding variants and CNVs during interpretation of WES data, as they can be the only cause of disease under investigation.

Keywords: whole exome sequencing data, non-coding variants, copy number variations, rare diseases

Procedia PDF Downloads 419