Search results for: genetic disorder
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 2661

Search results for: genetic disorder

2541 Developing a Comprehensive Model for the Prevention of Tension Neck Syndrome: A Focus on Musculoskeletal Disorder Prevention Strategies

Authors: Behnaz Sohani, Ifeoluwa Joshua Adigun, Amir Rahmani, Khaled Goher

Abstract:

This paper provides initial results on the efficacy of the designed ergonomic-oriented neck support to mitigate and alleviate tension neck syndrome musculoskeletal disorder. This is done using both simulations and measurements. Tension Neck Syndrome Musculoskeletal Disorder (TNS MSD) causes discomfort in the muscles around the neck and shoulder. TNS MSD is one of the leading causes of early retirement. This research focuses on the design of an adaptive neck supporter by integrating a soft actuator massager to help deliver a soothing massage. The massager and adaptive neck supporter prototype were validated by finite element analysis prior to fabrication to envisage the feasibility of the design concept. Then a prototype for the massager was fabricated and tested for concept validation. Future work will be focused on fabricating the full-scale prototype and upgrading and optimizing the design concept for the adaptive neck supporter.

Keywords: adaptive neck supporter, tension neck syndrome, musculoskeletal disorder, soft actuator massager, soft robotics

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2540 Seismic Retrofitting of Structures Using Steel Plate Slit Dampers Based on Genetic Algorithm

Authors: Mohamed Noureldin, Jinkoo Kim

Abstract:

In this study, a genetic algorithm was used to find out the optimum locations of the slit dampers satisfying a target displacement. A seismic retrofit scheme for a building structure was presented using steel plate slit dampers. A cyclic loading test was used to verify the energy dissipation capacity of the slit damper. The seismic retrofit of the model structure using the slit dampers was compared with the retrofit with enlarging shear walls. The capacity spectrum method was used to propose a simple damper distribution scheme proportional to the inter-story drifts. The validity of the simple story-wise damper distribution procedure was verified by comparing the results of the genetic algorithm. It was observed that the proposed simple damper distribution pattern was in a good agreement with the optimum distribution obtained from the genetic algorithm. Acknowledgment: This research was supported by Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (NRF-2017R1D1A1B03032809).

Keywords: slit dampers, seismic retrofit, genetic algorithm, optimum design

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2539 Applications of AFM in 4D to Optimize the Design of Genetic Nanoparticles

Authors: Hosam Abdelhady

Abstract:

Filming the behaviors of individual DNA molecules in their environment when they interact with individual medicinal nano-polymers in a molecular scale has opened the door to understand the effect of the molecular shape, size, and incubation time with nanocarriers on optimizing the design of robust genetic Nano molecules able to resist the enzymatic degradation, enter the cell, reach to the nucleus and kill individual cancer cells in their environment. To this end, we will show how we applied the 4D AFM as a guide to finetune the design of genetic nanoparticles and to film the effects of these nanoparticles on the nanomechanical and morphological profiles of individual cancer cells.

Keywords: AFM, dendrimers, nanoparticles, DNA, gene therapy, imaging

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2538 Alpha-Theta a Non-Invasive Treatment for the Self-Exploration of Individuals with Conversion Disorder in Pakistani Society

Authors: Muhammad Tahir Khalily

Abstract:

Aim: The purpose of the present study was to examine the effectiveness of alpha-theta brainwave Neuro feedback treatment for the internal self-exploration of individuals with conversion disorder. Method: A Purposive sample technique was used and data collected from Kalsoom International Hospital Islamabad and Al-Malik Medical Center Rawalpindi. 123 participants were examined, Male child = 5, female child = 6, male adult = 64, female adult = 48. This study retrospectively examined the symptomatic changes in clients with a range of psychiatric disorders particularly 13 (Male = 3, Female = 10) conversion disorder clients who have received Neuro feedback treatment. Results: Our results indicated a significant improvement (P < .001) in the amelioration of our clients’ symptoms which have enabled them to bring their emotional memories into conscious awareness for the peaceful resolution without self-detachment. Conclusion: Majority of the clients improved their psychiatric symptoms including the symptoms of conversion disorder and was discharged from therapy with the accomplishment of therapeutic goals.

Keywords: EEG, neurofeedback, conversion, therapy

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2537 Nurse’s Role in Early Detection of Breast Cancer through Mammography and Genetic Screening and Its Impact on Patient's Outcome

Authors: Salwa Hagag Abdelaziz, Dorria Salem, Hoda Zaki, Suzan Atteya

Abstract:

Early detection of breast cancer saves many thousands of lives each year via application of mammography and genetic screening and many more lives could be saved if nurses are involved in breast care screening practices. So, the aim of the study was to identify nurse's role in early detection of breast cancer through mammography and genetic screening and its impact on patient's outcome. In order to achieve this aim, 400 women above 40 years, asymptomatic were recruited for mammography and genetic screening. In addition, 50 nurses and 6 technologists were involved in the study. A descriptive analytical design was used. Five tools were utilized: sociodemographic, mammographic examination and risk factors, women's before, during and after mammography, items relaying to technologists, and items related to nurses were also obtained. The study finding revealed that 3% of women detected for malignancy and 7.25% for fibroadenoma. Statistically, significant differences were found between mammography results and age, family history, genetic screening, exposure to smoke, and using contraceptive pills. Nurses have insufficient knowledge about screening tests. Based on these findings the present study recommended involvement of nurses in breast care which is very important to in force population about screening practices.

Keywords: mammography, early detection, genetic screening, breast cancer

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2536 Computational Analyses of Persian Walnut Genetic Data: Notes on Genetic Diversity and Cultivar Phylogeny

Authors: Masoud Sheidaei, Melica Tabasi, Fahimeh Koohdar, Mona Sheidaei

Abstract:

Juglans regia L. is an economically important species of edible nuts. Iran is known as a center of origin of genetically rich walnut germplasm and expected to be found a large diversity within Iranian walnut populations. A detailed population genetic of local populations is useful for developing an optimal strategy for in situ conservation and can assist the breeders in crop improvement programs. Different phylogenetic studies have been carried out in this genus, but none has been concerned with genetic changes associated with geographical divergence and the identification of adaptive SNPs. Therefore, we carried out the present study to identify discriminating ITS nucleotides among Juglans species and also reveal association between ITS SNPs and geographical variables. We used different computations approaches like DAPC, CCA, and RDA analyses for the above-mentioned tasks. We also performed population genetics analyses for population effective size changes associated with the species expansion. The results obtained suggest that latitudinal distribution has a more profound effect on the species genetic changes. Similarly, multiple analytical approaches utilized for the identification of both discriminating DNA nucleotides/ SNPs almost produced congruent results. The SNPs with different phylogenetic importance were also identified by using a parsimony approach.

Keywords: Persian walnut, adaptive SNPs, data analyses, genetic diversity

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2535 Post-Traumatic Stress Disorder: Management at the Montfort Hospital

Authors: Kay-Anne Haykal, Issack Biyong

Abstract:

The post-traumatic stress disorder (PTSD) rises from exposure to a traumatic event and appears by a persistent experience of this event. Several psychiatric co-morbidities are associated with PTSD and include mood disorders, anxiety disorders, and substance abuse. The main objective was to compare the criteria for PTSD according to the literature to those used to diagnose a patient in a francophone hospital and to check the correspondence of these two criteria. 700 medical charts of admitted patients on the medicine or psychiatric unit at the Montfort Hospital were identified with the following diagnoses: major depressive disorder, bipolar disorder, anxiety disorder, substance abuse, and PTSD for the period of time between April 2005 and March 2006. Multiple demographic criteria were assembled. Also, for every chart analyzed, the PTSD criteria, according to the Manual of Mental Disorders (DSM) IV were found, identified, and grouped according to pre-established codes. An analysis using the receiver operating characteristic (ROC) method was elaborated for the study of data. A sample of 57 women and 50 men was studied. Age was varying between 18 and 88 years with a median age of 48. According to the PTSD criteria in the DSM IV, 12 patients should have the diagnosis of PTSD in opposition to only two identified in the medical charts. The ROC method establishes that with the combination of data from PTSD and depression, the sensitivity varies between 0,127 and 0,282, and the specificity varies between 0,889 and 0,917. Otherwise, if we examine the PTSD data alone, the sensibility jumps to 0.50, and the specificity varies between 0,781 and 0,895. This study confirms the presence of an underdiagnosed and treated PTSD that causes severe perturbations for the affected individual.

Keywords: post-traumatic stress disorder, co-morbidities, diagnosis, mental health disorders

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2534 Genetic-Environment Influences on the Cognitive Abilities of 6-to-8 Years Old Twins

Authors: Annu Panghal, Bimla Dhanda

Abstract:

This research paper aims to determine the genetic-environment influences on the cognitive abilities of twins. Using the 100 pairs of twins from two districts, namely: Bhiwani (N = 90) and Hisar (N = 110) of Haryana State, genetic and environmental influences were assessed in twin study design. The cognitive abilities of twins were measured using the Wechsler Intelligence Scale for Children (WISC-R). Home Observation for Measurement of the Environment (HOME) Inventory was taken to examine the home environment of twins. Heritability estimate was used to analyze the genes contributing to shape the cognitive abilities of twins. The heritability estimates for cognitive abilities of 6-7 years old twins in Hisar district were 74% and in Bhiwani District 76%. Further the heritability estimates were 64% in the twins of Hisar district and 60 in Bhiwani district % in the age group of 7-8 years. The remaining variations in the cognitive abilities of twins were due to environmental factors namely: provision for Active Stimulation, paternal involvement, safe physical environment. The findings provide robust evidence that the cognitive abilities were more influenced by genes than the environmental factors and also revealed that the influence of genetic was more in the age group 6-7 years than the age group 7-8 years. The conclusion of the heritability estimates indicates that the genetic influence was more in the age group of 6-7 years than the age group of 7-8 years. As the age increases the genetic influence decreases and environment influence increases. Mother education was strongly associated with the cognitive abilities of twins.

Keywords: genetics, heritability, twins, environment, cognitive abilities

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2533 Translation in Greek and Psychometric Properties of the 9-Item Internet Gaming Disorder Scale-Short Form (IGDS9-Sf)

Authors: Aspasia Simpsi

Abstract:

The aim of this study was to translate into Greek and then validate the psychometric properties of the Internet Gaming Disorder Scale–Short-Form (IGDS9-SF) (Pontes & Griffiths, 2015). This is the first short standardized psychometric tool to assess Internet Gaming Disorder (IGD) according to the DSM-V nine clinical criteria and among the most frequently examined. The translation of the test was done through the process of back-translation. To gain a better insight into the psychometric properties of this test, the questionnaire included demographic questions and the Greek version of the Internet Addiction Test (Young, 1998). The participants of the study were 241 adolescents aged between 12 to 18. They were nationally recruited in Greece through an online survey that was hosted on the platform of Qualtrics. Analysis revealed excellent reliability with Cronbach’s alpha coefficients α = .939 for IGDS9-SF and α = .940 for IAT. The use of Pearson product-moment correlation revealed a significant positive relationship between IGDS9-SF and IAT r (241) =.45, p < .001. Due to inconsistencies in terminology and tests in the field of IGD, what is recommended for future research is a consensus regarding IGD testing and research.

Keywords: internet gaming disorder, IGDS9-SF, psychometric properties, internet addiction

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2532 Transfer Knowledge From Multiple Source Problems to a Target Problem in Genetic Algorithm

Authors: Terence Soule, Tami Al Ghamdi

Abstract:

To study how to transfer knowledge from multiple source problems to the target problem, we modeled the Transfer Learning (TL) process using Genetic Algorithms as the model solver. TL is the process that aims to transfer learned data from one problem to another problem. The TL process aims to help Machine Learning (ML) algorithms find a solution to the problems. The Genetic Algorithms (GA) give researchers access to information that we have about how the old problem is solved. In this paper, we have five different source problems, and we transfer the knowledge to the target problem. We studied different scenarios of the target problem. The results showed combined knowledge from multiple source problems improves the GA performance. Also, the process of combining knowledge from several problems results in promoting diversity of the transferred population.

Keywords: transfer learning, genetic algorithm, evolutionary computation, source and target

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2531 Inverse Mapping of Weld Bead Geometry in Shielded Metal Arc-Welding: Genetic Algorithm Approach

Authors: D. S. Nagesh, G. L. Datta

Abstract:

In the field of welding, various studies had been made by some of the previous investigators to predict as well as optimize weld bead geometric descriptors. Modeling of weld bead shape is important for predicting the quality of welds. In most of the cases, design of experiments technique to postulate multiple linear regression equations have been used. Nowadays, Genetic Algorithm (GA) an intelligent information treatment system with the characteristics of treating complex relationships as seen in welding processes used as a tool for inverse mapping/optimization of the process is attempted.

Keywords: smaw, genetic algorithm, bead geometry, optimization/inverse mapping

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2530 Genetic Algorithm Approach for Inverse Mapping of Weld Bead Geometry in Shielded Metal Arc-Welding

Authors: D. S. Nagesh, G. L. Datta

Abstract:

In the field of welding, various studies had been made by some of the previous investigators to predict as well as optimize weld bead geometric descriptors. Modeling of weld bead shape is important for predicting the quality of welds. In most of the cases design of experiments technique to postulate multiple linear regression equations have been used. Nowadays Genetic Algorithm (GA) an intelligent information treatment system with the characteristics of treating complex relationships as seen in welding processes used as a tool for inverse mapping/optimization of the process is attempted.

Keywords: SMAW, genetic algorithm, bead geometry, optimization/inverse mapping

Procedia PDF Downloads 389
2529 Maximum Efficiency of the Photovoltaic Cells Using a Genetic Algorithm

Authors: Latifa Sabri, Mohammed Benzirar, Mimoun Zazoui

Abstract:

The installation of photovoltaic systems is one of future sources to generate electricity without emitting pollutants. The photovoltaic cells used in these systems have demonstrated enormous efficiencies and advantages. Several researches have discussed the maximum efficiency of these technologies, but only a few experiences have succeeded to right weather conditions to get these results. In this paper, two types of cells were selected: crystalline and amorphous silicon. Using the method of genetic algorithm, the results show that for an ambient temperature of 25°C and direct irradiation of 625 W/m², the efficiency of crystalline silicon is 12% and 5% for amorphous silicon.

Keywords: PV, maximum efficiency, solar cell, genetic algorithm

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2528 Genetic Parameters as Indicators of Sustainability and Diversity of Schinus terebinthifolius Populations in the Riparian Area of the São Francisco River

Authors: Renata Silva-Mann, Sheila Valéria Álvares Carvalho, Robério Anastácio Ferreira, Laura Jane Gomes

Abstract:

There is growing interest in defining indicators of sustainability, which are important for monitoring the conservation of native forests, particularly in areas of permanent protection. These indicators are references for assessing the state of the forest and the status of the depredated area and its ability to maintain species populations. The aim of the present study was to select genetic parameters as indicators of sustainability for Schinus terebinthifolius Raddi. Fragments located in riparian areas between the Sergipe and Alagoas States in Brazil. This species has been exploited for traditional communities, which represent 20% of the incoming. This study was carried out using the indicators suggested by the Organization for Economic Cooperation and Development, which were identified as Driving-Pressure-State-Impact-Response (DPSIR) factors. The genetic parameters were obtained in five populations located on the shores and islands of the São Francisco River, one of the most important rivers in Brazil. The framework for Schinus conservation suggests seventeen indicators of sustainability. In accordance with genetic parameters, the populations are isolated, and these genetic parameters can be used to monitor the sustainability of those populations in riparian area with the aim of defining strategies for forest restoration.

Keywords: alleles, molecular markers, genetic diversity, biodiversity

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2527 An Industrial Steady State Sequence Disorder Model for Flow Controlled Multi-Input Single-Output Queues in Manufacturing Systems

Authors: Anthony John Walker, Glen Bright

Abstract:

The challenge faced by manufactures, when producing custom products, is that each product needs exact components. This can cause work-in-process instability due to component matching constraints imposed on assembly cells. Clearing type flow control policies have been used extensively in mediating server access between multiple arrival processes. Although the stability and performance of clearing policies has been well formulated and studied in the literature, the growth in arrival to departure sequence disorder for each arriving job, across a serving resource, is still an area for further analysis. In this paper, a closed form industrial model has been formulated that characterizes arrival-to-departure sequence disorder through stable manufacturing systems under clearing type flow control policy. Specifically addressed are the effects of sequence disorder imposed on a downstream assembly cell in terms of work-in-process instability induced through component matching constraints. Results from a simulated manufacturing system show that steady state average sequence disorder in parallel upstream processing cells can be balanced in order to decrease downstream assembly system instability. Simulation results also show that the closed form model accurately describes the growth and limiting behavior of average sequence disorder between parts arriving and departing from a manufacturing system flow controlled via clearing policy.

Keywords: assembly system constraint, custom products, discrete sequence disorder, flow control

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2526 Modeling and Optimization of Micro-Grid Using Genetic Algorithm

Authors: Mehrdad Rezaei, Reza Haghmaram, Nima Amjadi

Abstract:

This paper proposes an operating and cost optimization model for micro-grid (MG). This model takes into account emission costs of NOx, SO2, and CO2, together with the operation and maintenance costs. Wind turbines (WT), photovoltaic (PV) arrays, micro turbines (MT), fuel cells (FC), diesel engine generators (DEG) with different capacities are considered in this model. The aim of the optimization is minimizing operation cost according to constraints, supply demand and safety of the system. The proposed genetic algorithm (GA), with the ability to fine-tune its own settings, is used to optimize the micro-grid operation.

Keywords: micro-grid, optimization, genetic algorithm, MG

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2525 Bioinformatics Approach to Support Genetic Research in Autism in Mali

Authors: M. Kouyate, M. Sangare, S. Samake, S. Keita, H. G. Kim, D. H. Geschwind

Abstract:

Background & Objectives: Human genetic studies can be expensive, even unaffordable, in developing countries, partly due to the sequencing costs. Our aim is to pilot the use of bioinformatics tools to guide scientifically valid, locally relevant, and economically sound autism genetic research in Mali. Methods: The following databases, NCBI, HGMD, and LSDB, were used to identify hot point mutations. Phenotype, transmission pattern, theoretical protein expression in the brain, the impact of the mutation on the 3D structure of the protein) were used to prioritize selected autism genes. We used the protein database, Modeller, and clustal W. Results: We found Mef2c (Gly27Ala/Leu38Gln), Pten (Thr131IIle), Prodh (Leu289Met), Nme1 (Ser120Gly), and Dhcr7 (Pro227Thr/Glu224Lys). These mutations were associated with endonucleases BseRI, NspI, PfrJS2IV, BspGI, BsaBI, and SpoDI, respectively. Gly27Ala/Leu38Gln mutations impacted the 3D structure of the Mef2c protein. Mef2c protein sequences across species showed a high percentage of similarity with a highly conserved MADS domain. Discussion: Mef2c, Pten, Prodh, Nme1, and Dhcr 7 gene mutation frequencies in the Malian population will be very informative. PCR coupled with restriction enzyme digestion can be used to screen the targeted gene mutations. Sanger sequencing will be used for confirmation only. This will cut down considerably the sequencing cost for gene-to-gene mutation screening. The knowledge of the 3D structure and potential impact of the mutations on Mef2c protein informed the protein family and altered function (ex. Leu38Gln). Conclusion & Future Work: Bio-informatics will positively impact autism research in Mali. Our approach can be applied to another neuropsychiatric disorder.

Keywords: bioinformatics, endonucleases, autism, Sanger sequencing, point mutations

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2524 Identification of the Parameters of a AC Servomotor Using Genetic Algorithm

Authors: J. G. Batista, K. N. Sousa, ¬J. L. Nunes, R. L. S. Sousa, G. A. P. Thé

Abstract:

This work deals with parameter identification of permanent magnet motors, a class of ac motor which is particularly important in industrial automation due to characteristics like applications high performance, are very attractive for applications with limited space and reducing the need to eliminate because they have reduced size and volume and can operate in a wide speed range, without independent ventilation. By using experimental data and genetic algorithm we have been able to extract values for both the motor inductance and the electromechanical coupling constant, which are then compared to measured and/or expected values.

Keywords: modeling, AC servomotor, permanent magnet synchronous motor-PMSM, genetic algorithm, vector control, robotic manipulator, control

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2523 PTSD in Peacekeepers: A Systematic Review

Authors: Laura Rodrigues Carmona, Maria José Chambel, Vânia Sofia Carvalho

Abstract:

Background: In peacekeeping operations, military personnel are often exposed to the same traumatic stress factors found during conventional war and may also be subject to the physical risks and psychological stressors associated with posttraumatic stress disorder (PTSD). Objectives: To discuss the prevalence of PTSD among peacekeepers as well as the risks of and protective factors against this disorder and its comorbidities and/or consequences. Methods: A systematic literature search was performed with relevant keywords, and 53 articles were identified for this review. Results and conclusions: Military personnel deployed in peacekeeping operations have a higher prevalence of PTSD than nonmilitary personnel, a prevalence similar to that of military personnel deployed in war situations. Concerning the salient risk factors, the contextual factors are highlighted, and in regard to the protective factors, the individual factors are highlighted. This study thus demonstrates that there are factors in which the role of the military is essential, via both its selection and monitoring of peacekeepers during and after their deployment, to protect deployed personnel’s mental health.

Keywords: peacekeepers, peacekeeping, military, PTSD, post-traumatic stress disorder, posttraumatic stress disorder

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2522 Chaos Fuzzy Genetic Algorithm

Authors: Mohammad Jalali Varnamkhasti

Abstract:

The genetic algorithms have been very successful in handling difficult optimization problems. The fundamental problem in genetic algorithms is premature convergence. This paper, present a new fuzzy genetic algorithm based on chaotic values instead of the random values in genetic algorithm processes. In this algorithm, for initial population is used chaotic sequences and then a new sexual selection proposed for selection mechanism. In this technique, the population is divided such that the male and female would be selected in an alternate way. The layout of the male and female chromosomes in each generation is different. A female chromosome is selected by tournament selection size from the female group. Then, the male chromosome is selected, in order of preference based on the maximum Hamming distance between the male chromosome and the female chromosome or The highest fitness value of male chromosome (if more than one male chromosome is having the maximum Hamming distance existed), or Random selection. The selections of crossover and mutation operators are achieved by running the fuzzy logic controllers, the crossover and mutation probabilities are varied on the basis of the phenotype and genotype characteristics of the chromosome population. Computational experiments are conducted on the proposed techniques and the results are compared with some other operators, heuristic and local search algorithms commonly used for solving p-median problems published in the literature.

Keywords: genetic algorithm, fuzzy system, chaos, sexual selection

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2521 The Influence of Self-Concept on the Tendency of Body Dysmorphic Disorder of Beauty Salon and Fitness Centre Customers in Malang

Authors: Yunita Kurniawati

Abstract:

The aim of the research is to understand the influence of self concept on the tendency for body dysmorphic disorder among beauty salon and fitness centre customers in Malang. Subjects in this study amounted to 200 of beauty salon and fitness centre customers in Malang. Subjects completed a self-concept scale and the tendency of body dysmorphic scale. This study was analyzed using simple linear regression. The result shows that there are 14% influence of self concept on the tendency of body dysmorphic disorder among customers of beauty salon and fitness centre in Malang.

Keywords: self concept, tendency of body dysmorphic disorder, beauty salon and fitness centre customers, Malang

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2520 Influence of Genetic Counseling in Family Dynamics in Patients with Deafness in Merida, Yucatán, Mexico

Authors: Damaris Estrella Castillo, Zacil ha Vilchis Zapata, Leydi Peraza Gómez

Abstract:

Hearing loss is an etiologically heterogeneous condition, where almost 60% is genetic in origin, 20% is due to environmental factors, and 20% have unknown causes. However, it is now known that the gene, GJB2, which encodes the connexin 26 protein, accounts for a large percentage of non-syndromic genetic hearing loss, and variants in this gene have been identified to be a common cause of hereditary hearing loss in many populations. The literature reports that the etiology in deafness helps improve family functioning but low-income countries this is difficult. Therefore, it is difficult to contribute the right of families to know about the genetic risk in future pregnancies as well as determining the certainty of being a carrier or affected. In order to assess the impact of genetic counseling and the functionality, 100 families with at least one child with profound hearing loss, were evaluated by specialists in audiology, clinical genetics and psychology. Targeted mutation analysis for one of the two known large deletions of upstream of GJB2/GJB6 gene (35delG; and including GJB2 regulatory sequences and GJB6) were performed in patients with diagnosis of non-syndromic hearing loss. Genetic counseling was given to all parents and primary caregivers, and APGAR family test was applied before and after the counseling. We analyzed a total of 300 members (children, parents) to determine the presence of the GJB2 gene mutation. Twelve patients (carriers and affected) were positive for the mutation, from 5 different families. The subsequent family APGAR testing and genetic counseling, showed that 14% perceived their families as functional, 62 % and 24 % moderately functional dysfunctional. This shows the importance of genetic counseling in the perception of family function that can directly impact the quality of life of these families.

Keywords: family dynamics, deafness, APGAR, counseling

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2519 ZBTB17 Gene rs10927875 Polymorphism in Slovak Patients with Dilated Cardiomyopathy

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

Abstract:

Dilated cardiomyopathy (DCM) is a severe cardiovascular disorder characterized by progressive systolic dysfunction due to cardiac chamber dilatation and inefficient myocardial contractility often leading to chronic heart failure. Recently, a genome-wide association studies (GWASs) on DCM indicate that the ZBTB17 gene rs10927875 single nucleotide polymorphism is associated with DCM. The aim of the study was to identify the distribution of ZBTB17 gene rs10927875 polymorphism in 50 Slovak patients with DCM and 80 healthy control subjects using the Custom Taqman®SNP Genotyping assays. Risk factors detected at baseline in each group included age, sex, body mass index, smoking status, diabetes and blood pressure. The mean age of patients with DCM was 52.9±6.3 years; the mean age of individuals in control group was 50.3±8.9 years. The distribution of investigated genotypes of rs10927875 polymorphism within ZBTB17 gene in the cohort of Slovak patients with DCM was as follows: CC (38.8%), CT (55.1%), TT (6.1%), in controls: CC (43.8%), CT (51.2%), TT (5.0%). The risk allele T was more common among the patients with dilated cardiomyopathy than in normal controls (33.7% versus 30.6%). The differences in genotype or allele frequencies of ZBTB17 gene rs10927875 polymorphism were not statistically significant (p=0.6908; p=0.6098). The results of this study suggest that ZBTB17 gene rs10927875 polymorphism may be a risk factor for susceptibility to DCM in Slovak patients with DCM. Studies of numerous files and additional functional investigations are needed to fully understand the roles of genetic associations.

Keywords: ZBTB17 gene, rs10927875 polymorphism, dilated cardiomyopathy, cardiovascular disorder

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2518 Genetic Identification of Crop Cultivars Using Barcode System

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

Abstract:

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

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

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2517 MMP-2 Gene Polymorphism and Its Influence on Serum MMP-2 Levels in Pre-Eclampsia in Indian Population

Authors: Ankush Kalra, Mirza Masroor, Usha Manaktala, B. C. Koner, T. K. Mishra

Abstract:

Introduction: Pre-eclampsia affects 3-5% of pregnancies worldwide and increases maternal-fetal morbidity and mortality. Reduced placental perfusion induces the release of biomolecules by the placenta into maternal circulation causing endothelial dysfunction. Zinc dependent matrix metalloproteinase-2 (MMP-2) may be up-regulated and interact with circulating factors of oxidative stress and inflammation to produce endothelial dysfunction in pre-eclampsia. Aim: To study the functional genetic polymorphism of MMP-2 gene (g-1306 C>T) in pre-eclampsia and its effect on serum MMP-2 levels in these patients. Method: Hundred pre-eclampsia patients and hundred age and gestation period matched healthy pregnant women with their consent were recruited in the study. Serum MMP-2 levels in all subjects were estimated using standard ELISA kits. MMP-2 gene (g.- 1306 C>T) SNPs were genotyped using whole blood by ASO-PCR. Result: The pre-eclampsia patients had higher serum levels of MMP-2 compared to the healthy pregnant (p < 0.05). Also the MMP-2 genotype was associated with significant alteration in the serum MMP-2 concentration in these patients (p < 0.05). Conclusion: This study results suggest an association of MMP-2 genetic polymorphism and serum levels of MMP-2 to the path physiology of hypertensive disorder of pregnancy.

Keywords: allele specific oligonucleotide polymerase chain reaction (ASO-PCR), enzyme linked immunosorbent assay (ELISA), matrix metalloproteinase-2 (MMP-2), pre-eclampsia

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2516 Meniere's Disease and its Prevalence, Symptoms, Risk Factors and Associated Treatment Solutions for this Disease

Authors: Amirreza Razzaghipour Sorkhab

Abstract:

One of the most common disorders among humans is hearing impairment. This paper provides an evidence base that recovers understanding of Meniere’s disease and highlights the physical and mental health correlates of the disorder. Meniere's disease is more common in the elderly. The term idiopathic endolymphatic hydrops has been attributed to this disease by some in the previous. Meniere’s disease demonstrations a genetic tendency, and a family history is found in 10% of cases, with an autosomal dominant inheritance pattern. The COCH gene may be one of the hereditary factors contributing to Meniere’s disease, and the possibility of a COCH mutation should be considered in patients with Meniere’s disease symptoms. Should be considered Missense mutations in the COCH gene cause the autosomal dominant sensorineural hearing loss and vestibular disorder. Meniere’s disease is a complex, heterogeneous disorder of the inner ear and that is characterized by episodes of vertigo lasting from minutes to hours, fluctuating sensorineural hearing loss, tinnitus, and aural fullness. The existing evidence supports the suggestion that age and sleep disorder are risk factors for Meniere's disease. Many factors have been reported to precipitate the progress of Menier, including endolymphatic hydrops, immunology, viral infection, inheritance, vestibular migraine, and altered intra-labyrinthine fluid dynamics. Although there is currently no treatment that has a proven helpful effect on hearing levels or on the long-term evolution of the disease, however, in the primary stages, the hearing may improve among attacks, but a permanent hearing loss occurs in the majority of cases. Current publications have proposed a role for the intratympanic use of medicine, mostly aminoglycosides, for the control of vertigo. more than 85% of patients with Meniere's disease are helped by either changes in lifestyle and medical treatment or minimally aggressive surgical procedures such as intratympanic steroid therapy, intratympanic gentamicin therapy, and endolymphatic sac surgery. However, unilateral vestibular extirpation methods (intratympanic gentamicin, vestibular nerve section, or labyrinthectomy) are more predictable but invasive approaches to control the vertigo attacks. Medical therapy aimed at reducing endolymph volume, such as low-sodium diet, diuretic use, is the typical initial treatment.

Keywords: meniere's disease, endolymphatic hydrops, hearing loss, vertigo, tinnitus, COCH gene

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2515 Living with Functional Movement Disorder: An Exploratory Study of the Lived Experience of Five Individuals with Functional Movement Disorder

Authors: Stephanie Zuba-Bates

Abstract:

Purpose: This qualitative research study explored the lived experience of people with functional movement disorder (FMD) including how it impacts their quality of life and participation in life activities. It aims to educate health care professionals about FMD from the perspective of those living with the disorder. Background: Functional movement disorder is characterized by abnormal motor movements including tremors, abnormal gait, paresis, and dystonia with no known underlying pathophysiological cause. Current research estimates that FMD may account for 2-20% of clients seen by neurologists. Getting a diagnosis of FMD is typically long and difficult. In addition, many healthcare professionals are unfamiliar with the disorder which may delay treatment. People living with FMD face great disruption in major areas of life including activities of daily living (ADLs), work, leisure, and community participation. OT practitioners have expertise in working with people with both physical disabilities as well as mental illness and this expertise has the potential to guide treatment and become part of the standard of care. In order for occupational therapists to provide these services, they must be aware of the disorder and must advocate for clients to be referred to OT services. In addition, referring physicians and other health professionals need to understand how having FMD impacts the daily functioning of people living with the disorder and how OT services can intervene to improve their quality of life. This study aimed to answer the following research questions: 1) What is the lived experience of individuals with FMD?; 2) How has FMD impacted their participation in major areas of life?; and, 3) What treatment have they found to be effective in improving their quality of life? Method: A naturalistic approach was used to collect qualitative data through semi-structured telephone interviews of five individuals living with FMD. Subjects were recruited from social media websites and resources for people with FMD. Data was analyzed for common themes among participants. Results: Common themes including the variability of symptoms of the disorder; challenges to receiving a diagnosis; frustrations with and distrust of health care professionals; the impact of FMD on the participant’s ability to perform daily activities; and, strategies for living with the symptoms of FMD. Conclusion: All of the participants in the study had to modify their daily activities, roles and routines as a result of the disorder. This is an area where occupational therapists may intervene to improve the quality of life of these individuals. Additionally, participants reported frustration with the medical community regarding the awareness of the disorder and how they were treated by medical professionals. Much more research and awareness of the disorder is in order.

Keywords: functional movement disorder, occupational therapy, participation, quality of life

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2514 Identification of Soft Faults in Branched Wire Networks by Distributed Reflectometry and Multi-Objective Genetic Algorithm

Authors: Soumaya Sallem, Marc Olivas

Abstract:

This contribution presents a method for detecting, locating, and characterizing soft faults in a complex wired network. The proposed method is based on multi-carrier reflectometry MCTDR (Multi-Carrier Time Domain Reflectometry) combined with a multi-objective genetic algorithm. In order to ensure complete network coverage and eliminate diagnosis ambiguities, the MCTDR test signal is injected at several points on the network, and the data is merged between different reflectometers (sensors) distributed on the network. An adapted multi-objective genetic algorithm is used to merge data in order to obtain more accurate faults location and characterization. The proposed method performances are evaluated from numerical and experimental results.

Keywords: wired network, reflectometry, network distributed diagnosis, multi-objective genetic algorithm

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2513 Partial Knowledge Transfer Between the Source Problem and the Target Problem in Genetic Algorithms

Authors: Terence Soule, Tami Al Ghamdi

Abstract:

To study how the partial knowledge transfer may affect the Genetic Algorithm (GA) performance, we model the Transfer Learning (TL) process using GA as the model solver. The objective of the TL is to transfer the knowledge from one problem to another related problem. This process imitates how humans think in their daily life. In this paper, we proposed to study a case where the knowledge transferred from the S problem has less information than what the T problem needs. We sampled the transferred population using different strategies of TL. The results showed transfer part of the knowledge is helpful and speeds the GA process of finding a solution to the problem.

Keywords: transfer learning, partial transfer, evolutionary computation, genetic algorithm

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2512 Opportunities for Effective Communication Through the Delivery of an Autism Spectrum Disorder Diagnosis: A Scoping Review

Authors: M. D. Antoine

Abstract:

When a child is diagnosed with an illness, condition, or developmental disorder, the process involved in understanding and accepting this diagnosis can be a very stressful and isolating experience for parents and families. The healthcare providers’ ability to effectively communicate in such situations represents a vital lifeline for parents. In this context, communication becomes a crucial element not only for getting through the period of grief but also for the future. We mobilized the five stages of grief model to summarize existing literature regarding the ways in which the experience ofan autism spectrum disorder diagnosis disclosurealigns with the experience of grief to explore how this can inform best practices for effective communication with parents through the diagnosis disclosure. Fifteen publications met inclusion criteria. Findings from the scoping review of empirical studies show that parents/families experience grief-like emotions during the diagnosis disclosure. However, grief is not an outcome of the encounter itself. In fact, the experience of the encounter can help mitigate the grief experience. The way parents/families receive and react to the ‘news’ depends on their preparedness, knowledge, and the support received through the experience. Individual communication skills, as well as policies and regulations, should be examined to alleviate adverse reactions in this context. These findings highlight the importance of further research into effective parent-provider communication strategies and their place in supporting quality autism care.

Keywords: autism spectrum disorder, autism spectrum disorder diagnosis, diagnosis disclosure, parent-provider communication, parental grief

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