Search results for: familial searching
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 443

Search results for: familial searching

443 Parents of Mentally Disabled Children in Iran: A Study of Their Parenting Stress Levels and Mental Health

Authors: Mohsen Amiri

Abstract:

This study aimed at investigating the relationship between familial functioning, child characteristics, demographic variables and parenting stress and mental health among parents of children with mental disabilities. 200 parents (130 mothers and 70 fathers) were studied and they completed the Parenting Stress Index, General Health Questionnaire, Family Assessment Device and demographic questionnaires for parents and children. Data were analyzed using correlation and regression analysis. Regression analysis showed that child characteristics, familial functioning and parents demographic factors could predict 8, 4 and 17 percent of variance in parental stress and 3.6, 16 and 10 percent of variance in mental health, respectively. Familial functioning, child characteristics and parental demographic variables correlated with mental health and parental stress and could predict them.

Keywords: parenting stress, mental health, mentally disabled children, familial functioning, demographic variables

Procedia PDF Downloads 414
442 Atypical Familial Amyotrophic Lateral Sclerosis Secondary to Superoxide Dismutase 1 Gene Mutation With Coexistent Axonal Polyneuropathy: A Challenging Diagnosis

Authors: Seraj Makkawi, Abdulaziz A. Alqarni, Himyan Alghaythee, Suzan Y. Alharbi, Anmar Fatani, Reem Adas, Ahmad R. Abuzinadah

Abstract:

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a neurodegenerative disease that involves both the upper and lower motor neurons. Familial ALS, including superoxide dismutase 1 (SOD1) mutation, accounts for 5-10% of all cases of ALS. Typically, the symptoms of ALS are purely motor, though coexistent sensory symptoms have been reported in rare cases. In this report, we describe the case of a 47- year-old man who presented with progressive bilateral lower limb weakness and numbness for the last four years. A nerve conduction study (NCS) showed evidence of coexistent axonal sensorimotor polyneuropathy in addition to the typical findings of ALS in needle electromyography. Genetic testing confirmed the diagnosis of familial ALS secondary to the SOD1 genetic mutation. This report highlights that the presence of sensory symptoms should not exclude the possibility of ALS in an appropriate clinical setting.

Keywords: Saudi Arabia, polyneuropathy, SOD1 gene mutation, familial amyotrophic lateral sclerosis, amyotrophic lateral sclerosis

Procedia PDF Downloads 113
441 Searching Linguistic Synonyms through Parts of Speech Tagging

Authors: Faiza Hussain, Usman Qamar

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Synonym-based searching is recognized to be a complicated problem as text mining from unstructured data of web is challenging. Finding useful information which matches user need from bulk of web pages is a cumbersome task. In this paper, a novel and practical synonym retrieval technique is proposed for addressing this problem. For replacement of semantics, user intent is taken into consideration to realize the technique. Parts-of-Speech tagging is applied for pattern generation of the query and a thesaurus for this experiment was formed and used. Comparison with Non-Context Based Searching, Context Based searching proved to be a more efficient approach while dealing with linguistic semantics. This approach is very beneficial in doing intent based searching. Finally, results and future dimensions are presented.

Keywords: natural language processing, text mining, information retrieval, parts-of-speech tagging, grammar, semantics

Procedia PDF Downloads 278
440 Development of a Vegetation Searching System

Authors: Rattanathip Rattanachai, Kunyanuth Kularbphettong

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This paper describes the development of a Vegetation Searching System based on Web Application in case of Suan Sunandha Rajabhat University. The model was developed by PHP, JavaScript, and MySQL database system and it was designed to support searching endemic and rare species of tree on web site. We describe the design methods and functional components of this prototype. To evaluate the system performance, questionnaires for system usability and Black Box Testing were used to measure expert and user satisfaction. The results were satisfactory as followed: Means for experts and users were 4.3 and 4.5, and standard deviation for experts and users were 0.61 and 0.73 respectively. Further analysis showed that the quality of plant searching web site was also at a good level as well.

Keywords: endemic species, vegetation, web-based system, black box testing, Thailand

Procedia PDF Downloads 283
439 Predictive Analysis of Personnel Relationship in Graph Database

Authors: Kay Thi Yar, Khin Mar Lar Tun

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Nowadays, social networks are so popular and widely used in all over the world. In addition, searching personal information of each person and searching connection between them (peoples’ relation in real world) becomes interesting issue in our society. In this paper, we propose a framework with three portions for exploring peoples’ relations from their connected information. The first portion focuses on the Graph database structure to store the connected data of peoples’ information. The second one proposes the graph database searching algorithm, the Modified-SoS-ACO (Sense of Smell-Ant Colony Optimization). The last portion proposes the Deductive Reasoning Algorithm to define two persons’ relationship. This study reveals the proper storage structure for connected information, graph searching algorithm and deductive reasoning algorithm to predict and analyze the personnel relationship from peoples’ relation in their connected information.

Keywords: personnel information, graph storage structure, graph searching algorithm, deductive reasoning algorithm

Procedia PDF Downloads 415
438 Internet of Things: Route Search Optimization Applying Ant Colony Algorithm and Theory of Computer Science

Authors: Tushar Bhardwaj

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Internet of Things (IoT) possesses a dynamic network where the network nodes (mobile devices) are added and removed constantly and randomly, hence the traffic distribution in the network is quite variable and irregular. The basic but very important part in any network is route searching. We have many conventional route searching algorithms like link-state, and distance vector algorithms but they are restricted to the static point to point network topology. In this paper we propose a model that uses the Ant Colony Algorithm for route searching. It is dynamic in nature and has positive feedback mechanism that conforms to the route searching. We have also embedded the concept of Non-Deterministic Finite Automata [NDFA] minimization to reduce the network to increase the performance. Results show that Ant Colony Algorithm gives the shortest path from the source to destination node and NDFA minimization reduces the broadcasting storm effectively.

Keywords: routing, ant colony algorithm, NDFA, IoT

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437 Analysis of the Movie “Life and a Day”

Authors: Mehravar Javid, Katherine Marshall Woods, Joseph Kosowsky, Anna Missner

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In this paper, "Life and a Day" is analyzed psychoanalytically with an emphasis on the ways by which addiction is influenced by personal psychology and familial ties. It explores the influence of parenting on one's sense of self and the function of therapeutic alliances in the treatment of addiction. The analysis also observes the main characters, with a special emphasis on Somayeh, who represents the continuation of her father's role in the family and faces identity and autonomy issues in the face of familial responsibilities. In addressing addiction, the document emphasizes the significance of comprehending family dynamics and individual psychological factors, emphasizing the interaction between personal trauma, family roles, and recovery.

Keywords: addiction, autonomy, family dynamics, identity, life and a day, psychoanalytic

Procedia PDF Downloads 55
436 Enhancing Strategic Counter-Terrorism: Understanding How Familial Leadership Influences the Resilience of Terrorist and Insurgent Organizations in Asia

Authors: Andrew D. Henshaw

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The research examines the influence of familial and kinship based leadership on the resilience of politically violent organizations. Organizations of this type frequently fight in the same conflicts though are called 'terrorist' or 'insurgent' depending on political foci of the time, and thus different approaches are used to combat them. The research considers them correlated phenomena with significant overlap and identifies strengths and vulnerabilities in resilience processes. The research employs paired case studies to examine resilience in organizations under significant external pressure, and achieves this by measuring three variables. 1: Organizational robustness in terms of leadership and governance. 2. Bounce-back response efficiency to external pressures and adaptation to endogenous and exogenous shock. 3. Perpetuity of operational and attack capability, and political legitimacy. The research makes three hypotheses. First, familial/kinship leadership groups have a significant effect on organizational resilience in terms of informal operations. Second, non-familial/kinship organizations suffer in terms of heightened security transaction costs and social economics surrounding recruitment, retention, and replacement. Third, resilience in non-familial organizations likely stems from critical external supports like state sponsorship or powerful patrons, rather than organic resilience dynamics. The case studies pair familial organizations with non-familial organizations. Set 1: The Haqqani Network (HQN) - Pair: Lashkar-e-Toiba (LeT). Set 2: Jemaah Islamiyah (JI) - Pair: The Abu Sayyaf Group (ASG). Case studies were selected based on three requirements, being: contrasting governance types, exposure to significant external pressures and, geographical similarity. The case study sets were examined over 24 months following periods of significantly heightened operational activities. This enabled empirical measurement of the variables as substantial external pressures came into force. The rationale for the research is obvious. Nearly all organizations have some nexus of familial interconnectedness. Examining familial leadership networks does not provide further understanding of how terrorism and insurgency originate, however, the central focus of the research does address how they persist. The sparse attention to this in existing literature presents an unexplored yet important area of security studies. Furthermore, social capital in familial systems is largely automatic and organic, given at birth or through kinship. It reduces security vetting cost for recruits, fighters and supporters which lowers liabilities and entry costs, while raising organizational efficiency and exit costs. Better understanding of these process is needed to exploit strengths into weaknesses. Outcomes and implications of the research have critical relevance to future operational policy development. Increased clarity of internal trust dynamics, social capital and power flows are essential to fracturing and manipulating kinship nexus. This is highly valuable to external pressure mechanisms such as counter-terrorism, counterinsurgency, and strategic intelligence methods to penetrate, manipulate, degrade or destroy the resilience of politically violent organizations.

Keywords: Counterinsurgency (COIN), counter-terrorism, familial influence, insurgency, intelligence, kinship, resilience, terrorism

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435 The Use of Voice in Online Public Access Catalog as Faster Searching Device

Authors: Maisyatus Suadaa Irfana, Nove Eka Variant Anna, Dyah Puspitasari Sri Rahayu

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Technological developments provide convenience to all the people. Nowadays, the communication of human with the computer is done via text. With the development of technology, human and computer communications have been conducted with a voice like communication between human beings. It provides an easy facility for many people, especially those who have special needs. Voice search technology is applied in the search of book collections in the OPAC (Online Public Access Catalog), so library visitors will find it faster and easier to find books that they need. Integration with Google is needed to convert the voice into text. To optimize the time and the results of searching, Server will download all the book data that is available in the server database. Then, the data will be converted into JSON format. In addition, the incorporation of some algorithms is conducted including Decomposition (parse) in the form of array of JSON format, the index making, analyzer to the result. It aims to make the process of searching much faster than the usual searching in OPAC because the data are directly taken to the database for every search warrant. Data Update Menu is provided with the purpose to enable users perform their own data updates and get the latest data information.

Keywords: OPAC, voice, searching, faster

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434 Estimating the Receiver Operating Characteristic Curve from Clustered Data and Case-Control Studies

Authors: Yalda Zarnegarnia, Shari Messinger

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Receiver operating characteristic (ROC) curves have been widely used in medical research to illustrate the performance of the biomarker in correctly distinguishing the diseased and non-diseased groups. Correlated biomarker data arises in study designs that include subjects that contain same genetic or environmental factors. The information about correlation might help to identify family members at increased risk of disease development, and may lead to initiating treatment to slow or stop the progression to disease. Approaches appropriate to a case-control design matched by family identification, must be able to accommodate both the correlation inherent in the design in correctly estimating the biomarker’s ability to differentiate between cases and controls, as well as to handle estimation from a matched case control design. This talk will review some developed methods for ROC curve estimation in settings with correlated data from case control design and will discuss the limitations of current methods for analyzing correlated familial paired data. An alternative approach using Conditional ROC curves will be demonstrated, to provide appropriate ROC curves for correlated paired data. The proposed approach will use the information about the correlation among biomarker values, producing conditional ROC curves that evaluate the ability of a biomarker to discriminate between diseased and non-diseased subjects in a familial paired design.

Keywords: biomarker, correlation, familial paired design, ROC curve

Procedia PDF Downloads 196
433 Bone Mineral Density in Egyptian Children with Familial Mediterranean Fever

Authors: S. Salah, S. A. El-Masry, H. F. Sheba, R. A. El-Banna, W. Saad

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Background: Familial Mediterranean fever (FMF) has episodic or subclinical inflammation that may lead to a decrease in bone mineral density (BMD). Objective: To assess BMD in Egyptian children with FMF on genetic basis. Subjects and Methods: A cross sectional study included 45 FMF patients and 25 control children of both sexes, with age range between 3-16 years old. The patients were reclassified into 2 groups: Group I (A) 23 cases used colchicines for 1 month or less, and Group I (B) 22 cases used colchicines for more than 6 months. For both patients and control, MEFV mutations were defined using molecular genetics technique and BMD was measured by DXA at 2 sites: proximal femur and the lumber spines. Results: four frequent gene mutations were found in the patient group: E148Q (35.6%), V726A (33.3%), M680I (28.9.0%) and M694V (2.2%). There were also 4 heterozygous gene mutations in 40% of control children. Patients received colchicines treatment for less than 1 month had highly significant lower values of BMD at femur and lumber spines than control children (p<0.05). Patients received colchicines treatment for more than 6 months had improved values of BMD at femur compared to control, but there were still significant differences between them at lumbar spine (p>0.05). There are insignificant effect of type of gene mutation on BMD and the risk of osteopenia among the patients. Conclusion: FMF had significant effect on BMD. However, regular use of colchicines treatment improves this effect mainly at femur.

Keywords: familial mediterranean fever, bone mineral density, genes, children

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432 Contribution of PALB2 and BLM Mutations to Familial Breast Cancer Risk in BRCA1/2 Negative South African Breast Cancer Patients Detected Using High-Resolution Melting Analysis

Authors: N. C. van der Merwe, J. Oosthuizen, M. F. Makhetha, J. Adams, B. K. Dajee, S-R. Schneider

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Women representing high-risk breast cancer families, who tested negative for pathogenic mutations in BRCA1 and BRCA2, are four times more likely to develop breast cancer compared to women in the general population. Sequencing of genes involved in genomic stability and DNA repair led to the identification of novel contributors to familial breast cancer risk. These include BLM and PALB2. Bloom's syndrome is a rare homozygous autosomal recessive chromosomal instability disorder with a high incidence of various types of neoplasia and is associated with breast cancer when in a heterozygous state. PALB2, on the other hand, binds to BRCA2 and together, they partake actively in DNA damage repair. Archived DNA samples of 66 BRCA1/2 negative high-risk breast cancer patients were retrospectively selected based on the presence of an extensive family history of the disease ( > 3 affecteds per family). All coding regions and splice-site boundaries of both genes were screened using High-Resolution Melting Analysis. Samples exhibiting variation were bi-directionally automated Sanger sequenced. The clinical significance of each variant was assessed using various in silico and splice site prediction algorithms. Comprehensive screening identified a total of 11 BLM and 26 PALB2 variants. The variants detected ranged from global to rare and included three novel mutations. Three BLM and two PALB2 likely pathogenic mutations were identified that could account for the disease in these extensive breast cancer families in the absence of BRCA mutations (BLM c.11T > A, p.V4D; BLM c.2603C > T, p.P868L; BLM c.3961G > A, p.V1321I; PALB2 c.421C > T, p.Gln141Ter; PALB2 c.508A > T, p.Arg170Ter). Conclusion: The study confirmed the contribution of pathogenic mutations in BLM and PALB2 to the familial breast cancer burden in South Africa. It explained the presence of the disease in 7.5% of the BRCA1/2 negative families with an extensive family history of breast cancer. Segregation analysis will be performed to confirm the clinical impact of these mutations for each of these families. These results justify the inclusion of both these genes in a comprehensive breast and ovarian next generation sequencing cancer panel and should be screened simultaneously with BRCA1 and BRCA2 as it might explain a significant percentage of familial breast and ovarian cancer in South Africa.

Keywords: Bloom Syndrome, familial breast cancer, PALB2, South Africa

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431 Automatic LV Segmentation with K-means Clustering and Graph Searching on Cardiac MRI

Authors: Hae-Yeoun Lee

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Quantification of cardiac function is performed by calculating blood volume and ejection fraction in routine clinical practice. However, these works have been performed by manual contouring,which requires computational costs and varies on the observer. In this paper, an automatic left ventricle segmentation algorithm on cardiac magnetic resonance images (MRI) is presented. Using knowledge on cardiac MRI, a K-mean clustering technique is applied to segment blood region on a coil-sensitivity corrected image. Then, a graph searching technique is used to correct segmentation errors from coil distortion and noises. Finally, blood volume and ejection fraction are calculated. Using cardiac MRI from 15 subjects, the presented algorithm is tested and compared with manual contouring by experts to show outstanding performance.

Keywords: cardiac MRI, graph searching, left ventricle segmentation, K-means clustering

Procedia PDF Downloads 378
430 Meta Model for Optimum Design Objective Function of Steel Frames Subjected to Seismic Loads

Authors: Salah R. Al Zaidee, Ali S. Mahdi

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Except for simple problems of statically determinate structures, optimum design problems in structural engineering have implicit objective functions where structural analysis and design are essential within each searching loop. With these implicit functions, the structural engineer is usually enforced to write his/her own computer code for analysis, design, and searching for optimum design among many feasible candidates and cannot take advantage of available software for structural analysis, design, and searching for the optimum solution. The meta-model is a regression model used to transform an implicit objective function into objective one and leads in turn to decouple the structural analysis and design processes from the optimum searching process. With the meta-model, well-known software for structural analysis and design can be used in sequence with optimum searching software. In this paper, the meta-model has been used to develop an explicit objective function for plane steel frames subjected to dead, live, and seismic forces. Frame topology is assumed as predefined based on architectural and functional requirements. Columns and beams sections and different connections details are the main design variables in this study. Columns and beams are grouped to reduce the number of design variables and to make the problem similar to that adopted in engineering practice. Data for the implicit objective function have been generated based on analysis and assessment for many design proposals with CSI SAP software. These data have been used later in SPSS software to develop a pure quadratic nonlinear regression model for the explicit objective function. Good correlations with a coefficient, R2, in the range from 0.88 to 0.99 have been noted between the original implicit functions and the corresponding explicit functions generated with meta-model.

Keywords: meta-modal, objective function, steel frames, seismic analysis, design

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429 An International Comparison of Forensic Identification Evidence Legislation: Balancing Community Interests and Individual Rights

Authors: Marcus Smith

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DNA profiling has made a valuable contribution to criminal investigations over the past thirty years. Direct matching DNA profiles from a crime scene and suspect, or between a suspect and a database remain of great importance to crimes such as murder, assault, and property theft. As scientific and technological advancement continues, a wide range of new DNA profiling applications has been developed. The application of new techniques involves an interesting balancing act between admitting probative evidence in a criminal trial, evaluating its degree of relevance and validity, and limiting its prejudicial impact. The impact of new DNA profiling applications that have significant implications for law enforcement and the legal system can be evaluated through a review of relevant case law, legislation and the latest empirical evidence from jurisdictions around the world including the United States, United Kingdom, and Australia. There are benefits in further examining the implications of these new developments, including how the criminal law can best be adapted to ensure that new technology is used to enhance criminal investigation and prosecution while ensuring it is applied in a measured way that respects individual rights and maintains principles of fairness enshrined in the legal system.

Keywords: criminal procedure, forensic evidence, DNA profiling, familial searching, phenotyping

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428 Search for the Sacred: A conceptual Analysis of Divine Relationship

Authors: Monir Ahmed

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The main purpose of this paper is to analyze existing conceptual papers on the divine relationship. The primary objective of the paper is to illustrate cognitive orientation as a determinant of divine relationship. A further aim of the paper is to establish whether spiritual or religious practices, rituals, or acts alone could confirm a relationship with the sacred or the divine. Searching for the sacred or the divine is known to be a novel way of understanding the meaning and purpose of human existence, including the existence of everything around us. Inevitably, searching for the sacred provides an opportunity for human beings to form a relationship with the divine. Research suggests that discovering meaning and purpose through searching for the sacred or forming relationship with the divine enhances psychological well-being and eventually helps individuals to flourish. The search for the sacred and the discovery of the divine relationship thus have become interesting areas of study in Psychology of Religion and Spirituality. The existing conceptual papers on the relationship with the transcendent source, i.e., the divine creator, were systematically reviewed and analyzed. The outcome of the review reveals that the existing understanding of the relationship with the divine source is inadequate and that such understanding is unable to indicate or confirm a relationship with psychological well-being, including spiritual well-being. The importance of cognitive orientation, including cognitive processes as well as ‘creatio ex nihilo’ doctrine in searching for the sacred, is indicated. The author of this paper proposes that cognitive-theological understanding involving faith and belief about the creation and the divine source, the transcendent God is likely to offer a comprehensive understanding of the divine relationship.

Keywords: divine, well-being, analysis, cognitive orientation, ‘creatio ex nihilo’ doctrine

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427 Children’s Concept of Forgiveness

Authors: Lida Landicho, Analiza R. Adarlo, Janine Mae V. Corpuz, Joan C. Villanueva

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Testing the idea that the process of forgiveness is intrinsically different across diverse relationships, this study examined whether forgiveness can already be facilitated by children ages 4-6. Two different intervention sessions which consists of 40 children (half heard stories about unfair blame and half heard stories about a double standard (between subjects variable) was completed. Investigators performed experimental analyses to examine the role of forgiveness in social and familial context. Results indicated that forgiveness can already be facilitated by children. Children see scenarios on double standard to be more unfair than normal scenarios (Scenario 2 (double standard) (M=7.54) Scenario 1 (unfair blame) (M=4.50), Scenario 4 (double standard) (M=7.) Scenario 3 (getting blamed for something the friend did) (M=6.80)p <.05.The findings confirmed that children were generally willing to grant forgiveness to a mother even though she was unfair, but less so to a friend. Correlations between sex, age and forgiveness were analyzed. Significant relationships was found on scenarios presented and caring task scores (rxy= -.314).Their tendency to forgive was related to dispositional and situational factors.

Keywords: forgiveness, situational and dispositional factors, familial context, social context

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426 High-Throughput Artificial Guide RNA Sequence Design for Type I, II and III CRISPR/Cas-Mediated Genome Editing

Authors: Farahnaz Sadat Golestan Hashemi, Mohd Razi Ismail, Mohd Y. Rafii

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A huge revolution has emerged in genome engineering by the discovery of CRISPR (clustered regularly interspaced palindromic repeats) and CRISPR-associated system genes (Cas) in bacteria. The function of type II Streptococcus pyogenes (Sp) CRISPR/Cas9 system has been confirmed in various species. Other S. thermophilus (St) CRISPR-Cas systems, CRISPR1-Cas and CRISPR3-Cas, have been also reported for preventing phage infection. The CRISPR1-Cas system interferes by cleaving foreign dsDNA entering the cell in a length-specific and orientation-dependant manner. The S. thermophilus CRISPR3-Cas system also acts by cleaving phage dsDNA genomes at the same specific position inside the targeted protospacer as observed in the CRISPR1-Cas system. It is worth mentioning, for the effective DNA cleavage activity, RNA-guided Cas9 orthologs require their own specific PAM (protospacer adjacent motif) sequences. Activity levels are based on the sequence of the protospacer and specific combinations of favorable PAM bases. Therefore, based on the specific length and sequence of PAM followed by a constant length of target site for the three orthogonals of Cas9 protein, a well-organized procedure will be required for high-throughput and accurate mining of possible target sites in a large genomic dataset. Consequently, we created a reliable procedure to explore potential gRNA sequences for type I (Streptococcus thermophiles), II (Streptococcus pyogenes), and III (Streptococcus thermophiles) CRISPR/Cas systems. To mine CRISPR target sites, four different searching modes of sgRNA binding to target DNA strand were applied. These searching modes are as follows: i) coding strand searching, ii) anti-coding strand searching, iii) both strand searching, and iv) paired-gRNA searching. The output of such procedure highlights the power of comparative genome mining for different CRISPR/Cas systems. This could yield a repertoire of Cas9 variants with expanded capabilities of gRNA design, and will pave the way for further advance genome and epigenome engineering.

Keywords: CRISPR/Cas systems, gRNA mining, Streptococcus pyogenes, Streptococcus thermophiles

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425 School Choice and Institutional or Familial Habitus: Reciprocity in Parents-School Relationships

Authors: Fatemeh Yazdani

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This paper explores the student intake policies in high-performing private schools in Iran by studying both sides involved in the school choice processes, parents and the school leaders. It is based on in-depth interviews with 27 parents and private schools’ staff and principals supplemented by ethnographic observation in two private schools in Tehran. From the Bourdieusian point of view, this paper argues that the school leadership engineers the composition of private schools’ students via different gatekeeping strategies, and these strategies represent and reconstruct the school’s institutional habitus. It further explores the ways that parents who look for quality education among non-state education providers deal with the school's institutional habitus based on their familial habitus and possessed economic, social, and cultural capital. The conclusion highlights that investigating school choice as a reciprocal process between family and school leadership can shed more light on the ways that an exclusive environment has been created in some high-performing private schools for certain class strata maintaining a distance that needs to be kept from ‘others.’ In a broader sense, this paper engages into an exploration of social inequality reproduction through private education.

Keywords: institutional habitus, private education, school choice, social inequality, student intake

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424 Identification of New Familial Breast Cancer Susceptibility Genes: Are We There Yet?

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

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

Keywords: predisposition, familial, exome sequencing, breast cancer

Procedia PDF Downloads 462
423 Genome-Wide Mining of Potential Guide RNAs for Streptococcus pyogenes and Neisseria meningitides CRISPR-Cas Systems for Genome Engineering

Authors: Farahnaz Sadat Golestan Hashemi, Mohd Razi Ismail, Mohd Y. Rafii

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Clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated protein (Cas) system can facilitate targeted genome editing in organisms. Dual or single guide RNA (gRNA) can program the Cas9 nuclease to cut target DNA in particular areas; thus, introducing concise mutations either via error-prone non-homologous end-joining repairing or via incorporating foreign DNAs by homologous recombination between donor DNA and target area. In spite of high demand of such promising technology, developing a well-organized procedure in order for reliable mining of potential target sites for gRNAs in large genomic data is still challenging. Hence, we aimed to perform high-throughput detection of target sites by specific PAMs for not only common Streptococcus pyogenes (SpCas9) but also for Neisseria meningitides (NmCas9) CRISPR-Cas systems. Previous research confirmed the successful application of such RNA-guided Cas9 orthologs for effective gene targeting and subsequently genome manipulation. However, Cas9 orthologs need their particular PAM sequence for DNA cleavage activity. Activity levels are based on the sequence of the protospacer and specific combinations of favorable PAM bases. Therefore, based on the specific length and sequence of PAM followed by a constant length of the target site for the two orthogonals of Cas9 protein, we created a reliable procedure to explore possible gRNA sequences. To mine CRISPR target sites, four different searching modes of sgRNA binding to target DNA strand were applied. These searching modes are as follows i) coding strand searching, ii) anti-coding strand searching, iii) both strand searching, and iv) paired-gRNA searching. Finally, a complete list of all potential gRNAs along with their locations, strands, and PAMs sequence orientation can be provided for both SpCas9 as well as another potential Cas9 ortholog (NmCas9). The artificial design of potential gRNAs in a genome of interest can accelerate functional genomic studies. Consequently, the application of such novel genome editing tool (CRISPR/Cas technology) will enhance by presenting increased versatility and efficiency.

Keywords: CRISPR/Cas9 genome editing, gRNA mining, SpCas9, NmCas9

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422 The Level of Stress and Coping Stress Strategies of Young People with Profound Hearing Impairment

Authors: Anna Czyż

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This article is focused on the issues of stress and coping with the stress of young people with profound hearing loss. Perceptional disorders, especially visual or hearing defects, are the reason of homeostasis dysfunction. Biopsychological development can become poor. A substitute reality is formed as a result of compensatory activities of other senses. The hearing disorder itself is a stress-inducing factor, affecting the quality of human functioning. In addition, the limitations of perceptual capabilities in the context of the functioning environment can contribute to increasing the amount of stressors, as well as the specific sensitivity to the stressors, and the use of specific strategies to overcome the difficulties. The appropriate study was conducted on a sample of 92 students, aged 16 -19 years old, 43 females, 49 males. For diagnostic purposes, the standardized psychological' research tools were used. The level of the stress and the strategies of coping with the stress were evaluated. The results of the research indicate that level of the stress is indifferent. The most frequently chosen strategies for coping with the stress in the sample are concentrated on 1) acceptation, 2) 'doing something different', 3) searching of emotional supporting, 4) searching of instrumental supporting, and the factors (grouped items) of coping with the stress are concentrated on 1) searching of support, 2) acceptance. The relationships in both male and female research groups were specified. Also the relationships between the highlighted variables were determined.

Keywords: cooping stress, deaf, hearing impairment, quality of life, stress, stress

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421 Activation of Mitophagy and Autophagy in Familial Forms of Parkinson's Disease, as a Potential Strategy for Cell Protection

Authors: Nafisa Komilova, Plamena Angelova, Andrey Abramov, Ulugbek Mirkhodjaev

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Parkinson’s disease (PD) is a progressive neurodegenerative disorder which is induced by the loss of dopaminergic neurons in the midbrain. The mechanism of neurodegeneration is associated with the aggregation of misfolded proteins, oxidative stress, and mitochondrial disfunction. Considering this, the process of removal of unwanted organelles or proteins by autophagy is vitally important in neurons, and activation of these processes could be protective in PD. Short-time acidification of cytosol can activate mitophagy and autophagy, and here we used sodium pyruvate and sodium lactate in human fibroblasts with PD mutations (Pink1, Pink1/Park2, α-syn triplication, A53T) to induce changes in intracellular pH. We have found that both lactate and pyruvate in millimolar concentrations can induce short-time acidification of cytosol in these cells. It induced activation of mitophagy and autophagy in control and PD fibroblasts and protected against cell death. Importantly, the application of lactate to acute brain slices of control and Pink1 knockout mice also induced a reduction of pH in neurons and astrocytes that increase the level of mitophagy. Thus, acidification of cytosol by compounds which play important role in cell metabolism also can activate mitophagy and autophagy and protect cells in the familial form of PD.

Keywords: Parkinson's disease, mutations, mitophagy, autophagy

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420 Improvements in Double Q-Learning for Anomalous Radiation Source Searching

Authors: Bo-Bin Xiaoa, Chia-Yi Liua

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In the task of searching for anomalous radiation sources, personnel holding radiation detectors to search for radiation sources may be exposed to unnecessary radiation risk, and automated search using machines becomes a required project. The research uses various sophisticated algorithms, which are double Q learning, dueling network, and NoisyNet, of deep reinforcement learning to search for radiation sources. The simulation environment, which is a 10*10 grid and one shielding wall setting in it, improves the development of the AI model by training 1 million episodes. In each episode of training, the radiation source position, the radiation source intensity, agent position, shielding wall position, and shielding wall length are all set randomly. The three algorithms are applied to run AI model training in four environments where the training shielding wall is a full-shielding wall, a lead wall, a concrete wall, and a lead wall or a concrete wall appearing randomly. The 12 best performance AI models are selected by observing the reward value during the training period and are evaluated by comparing these AI models with the gradient search algorithm. The results show that the performance of the AI model, no matter which one algorithm, is far better than the gradient search algorithm. In addition, the simulation environment becomes more complex, the AI model which applied Double DQN combined Dueling and NosiyNet algorithm performs better.

Keywords: double Q learning, dueling network, NoisyNet, source searching

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419 The Impact of Sign Language on Generating and Maintaining a Mental Image

Authors: Yi-Shiuan Chiu

Abstract:

Deaf signers have been found to have better mental image performance than hearing nonsigners. The goal of this study was to investigate the ability to generate mental images, to maintain them, and to manipulate them in deaf signers of Taiwanese Sign Language (TSL). In the visual image task, participants first memorized digits formed in a cell of 4 × 5 grids. After presenting a cue of Chinese digit character shown on the top of a blank cell, participants had to form a corresponding digit. When showing a probe, which was a grid containing a red circle, participants had to decide as quickly as possible whether the probe would have been covered by the mental image of the digit. The ISI (interstimulus interval) between cue and probe was manipulated. In experiment 1, 24 deaf signers and 24 hearing nonsigners were asked to perform image generation tasks (ISI: 200, 400 ms) and image maintenance tasks (ISI: 800, 2000 ms). The results showed that deaf signers had had an enhanced ability to generate and maintain a mental image. To explore the process of mental image, in experiment 2, 30 deaf signers and 30 hearing nonsigners were asked to do visual searching when maintaining a mental image. Between a digit image cue and a red circle probe, participants were asked to search a visual search task to see if a target triangle apex was directed to the right or left. When there was only one triangle in the searching task, the results showed that both deaf signers and hearing non-signers had similar visual searching performance in which the searching targets in the mental image locations got facilitates. However, deaf signers could maintain better and faster mental image performance than nonsigners. In experiment 3, we increased the number of triangles to 4 to raise the difficulty of the visual search task. The results showed that deaf participants performed more accurately in visual search and image maintenance tasks. The results suggested that people may use eye movements as a mnemonic strategy to maintain the mental image. And deaf signers had enhanced abilities to resist the interference of eye movements in the situation of fewer distractors. In sum, these findings suggested that deaf signers had enhanced mental image processing.

Keywords: deaf signers, image maintain, mental image, visual search

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418 Searching the Relationship among Components that Contribute to Interactive Plight and Educational Execution

Authors: Shri Krishna Mishra

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In an educational context, technology can prompt interactive plight only when it is used in conjunction with interactive plight methods. This study, therefore, examines the relationships among components that contribute to higher levels of interactive plight and execution, such as interactive Plight methods, technology, intrinsic motivation and deep learning. 526 students participated in this study. With structural equation modelling, the authors test the conceptual model and identify satisfactory model fit. The results indicate that interactive Plight methods, technology and intrinsic motivation have significant relationship with interactive Plight; deep learning mediates the relationships of the other variables with Execution.

Keywords: searching the relationship among components, contribute to interactive plight, educational execution, intrinsic motivation

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417 Evaluation of Brca1/2 Mutational Status among Algerian Familial Breast Cancer

Authors: Arab M., Ait Abdallah M., Zeraoulia N., Boumaza H., Aoutia M., Griene L., Ait Abdelkader B.,

Abstract:

breast and ovarian cancer are respectively the first and fourth leading causes of cancer among women in Algeria. A family story of cancer in the most important risk factor, and in most cases of families with breast and /or ovarian cancer, the pattern of cancer family can be attributed to mutation in BRCA1/2genes. objectibes: the aim of our study in to investigate the spectrum of BRCA1/2 germiline mutation in familial breast and /or ovarian cancer and to determine the prevalence and the nature of BRCA1/2mutation in Algeria methods: we deremined the prevalence of BRCA1/2 mutation within a cohort of 161 probands selected according the eisinger score double stranded sanger sequencing of all coding exons of BRCA1/2including flanking intronic region were performed results: we identified a total of 23 distinct deleterious mutations (class5) 12 differents mutations in BRCA1(52%) and 11 in BRCA2(48%). 78% (18/23) were protein truncating and 22%(5/23) missens mutations.3 novel deleterious mutations have been identified, which have not been described in public mutation database. one new mutation were found in two unrelated patients. the overall mutation detection rate in our study is 28,5%(46/161).more over, an UVS c7783 located in BRCA2 is found in two unrelated probands and segregate in the 02 families/ conclusion: our results sugget of large spectrum of BRCA1/2 mutation in Algerian breast/ovarian cancer family. The nature and prevalence of BRCA1/2mutation in algerian families are ongoing in a larger study, 80 probands are to day under investigation. This study which may therefore identify the genetic particularity of Algerian breast /ovarian cancer.

Keywords: BRCA1/2 mutations, hereditary breast cancer, algerian women, prvalence

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416 Discrete Swarm with Passive Congregation for Cost Minimization of the Multiple Vehicle Routing Problem

Authors: Tarek Aboueldahab, Hanan Farag

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Cost minimization of Multiple Vehicle Routing Problem becomes a critical issue in the field of transportation because it is NP-hard optimization problem and the search space is complex. Many researches use the hybridization of artificial intelligence (AI) models to solve this problem; however, it can not guarantee to reach the best solution due to the difficulty of searching the whole search space. To overcome this problem, we introduce the hybrid model of Discrete Particle Swarm Optimization (DPSO) with a passive congregation which enable searching the whole search space to compromise between both local and global search. The practical experiment shows that our model obviously outperforms other hybrid models in cost minimization.

Keywords: cost minimization, multi-vehicle routing problem, passive congregation, discrete swarm, passive congregation

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415 The Criteria of the Aesthetic Quality of Art: Contemporary Photography

Authors: Artem Surkov

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This work is devoted to a problem of aesthetic quality determinism in the context of contemporary art. The object of study is photography regarding as a kind of art which demands specific system of quality marking. Objective: To define aesthetic criteria in photography art. For current searching different kind of texts by such powerful authors like Clement Greenberg and Rosalind Krauss, Theodor Adorno and Herbert Marcuse, Charlott Cotton and Boris Groys, Viktor Miziano and Ekaterina Degot' were analyzed. Before all, there are two different kinds of photography: the classic art photography (by Ansel Adams) and the photography as kind of art (by Andreas Gursky). In this text we are talking about the photography as kind of art. The main principle of current searching is synthesis of two different approaches: modernism and postmodernism. This method helps us to define uniform criteria of aesthetic quality in photography as kind of art. The criteria mentioned in conclusion paragraph are: aesthetic rationality, aesthetic economy, awareness (using photographic technics or references), and intention to go beyond form, practice and method.

Keywords: aesthetic, art, criteria of quality, photography, visually

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414 Peer-Assisted Learning of Ebm in, a UK Medical School: Evaluation of the NICE Evidence Search Student Champion Scheme

Authors: Emily Jin, Harry Sharples, Anne Weist

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Introduction: NICE Evidence Search Student Champion Scheme is a peer-assisted learning scheme that aims to improve the routine use of evidence-based information by future health and social care staff. The focus is on the NICE evidence search portal that provides selected information from more than 800 reliable health, social care, and medicines sources, including up-to-date guidelines and information for the public. This paper aims to evaluate the effectiveness of the scheme when implemented in Liverpool School of Medicine and to understand the experiences of those attending. Methods: Twelve student champions were recruited and trained in February 2020 as peer tutors during a workshop facilitated by NICE. Cascade sessions were then organised and delivered on an optional basis for students, in small groups of < 10 to approximately 70 attendees. Surveys were acquired immediately before and 8-12 weeks after cascade sessions (n=47 and 45 respectively). Data from these surveys facilitated the analysis of the scheme. Results: Surveys demonstrated 74% of all attendees frequently searched for health and social care information online as a part of their studies. However, only 15% of attendees reported having prior formal training on searching for health information, despite receiving such training earlier on in the curriculum. After attending cascade sessions, students reported a 58% increase in confidence when searching for information using evidence search, from a pre-session a baseline of 36%. Conclusion: NICE Evidence Search Student Champion Scheme provided clear benefits for attending students, increasing confidence in searching for peer-reviewed, mainly secondary sources of health information. The lack of reported training represents the unmet need that the champion scheme satisfies, and this likely benefits student champions as well as attendees. Increasing confidence in searching for healthcare information online may support future evidence-based decision-making.

Keywords: evidence-based medicine, NICE, medical education, medical school, peer-assisted learning

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