Search results for: genetic disorder

Authors: F.Bendahma, S.Bentata

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In this paper, we study numerically the eigenstates existing in a GaAs/AlxGa1-xAs superlattice with structural disorder in trimer height barrier (THB). Aluminium concentration x takes at random two different values, one of them appears only in triply and remains inferior to the second in the studied structure. In spite of the presence of disorder, the system exhibits two kinds of sets of propagating states lying below the barrier due to the characteristic structure of the superlattice. This result allows us to note the existence of a single laser emission in trimer and wavelengths are obtained in the mid-infrared.

Keywords: infrared (IR), laser emission, superlattice, trimer

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Authors: Rim Frikha, Nouha Bouayed Abdelmoula, Afifa Sellami, Salima Daoud, Tarek Rebai

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Klippel-Feil Syndrome (KFS) is characterized by congenital vertebral fusion of the cervical spine resulting from faulty segmentation along the embryo's developing axis. A wide spectrum of associated anomalies may be present. This heterogeneity has complicated elucidation of the genetic etiology and management of the syndrome. We report a case of an isolated Klippel-Feil Syndrome with C5-C6 fusion on the cervical spine. It‘s the rarest form of congenital fused cervical vertebrae which is predisposed to the risk of spinal cord injury and neurologic problems. The aim of this paper was to review clinical heterogeneity; radiographic abnormalities and genetic etiology in Klippel-Feil Syndrome. We insist in comprehensive evaluation and delineation of diagnostic and prognostic classes.

Keywords: Klippel–Feil anomaly, genetic, clinical heterogeneity, radiographic abnormalities

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Authors: Jayme R. Swanke

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This study examined the benefits of maintaining public blogs about substance use disorder recovery. The data analyzed for this study included statements about the benefits derived by individuals who blogged about their recovery. The researcher developed classifications of statements that expressed what these individuals gained from blogging into common themes and developed an emerging theory based on these patterns. The findings indicate that these individuals in recovery benefit from blogging by developing connections, processing emotions, remaining accountable, as well as enjoying.

Keywords: substance use disorder recovery, connection, blogging, accountability, processing emotions

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Authors: Ayat Bani Rashaid, Zain Khasawneh, Mazin Alqhazo, Shreen Nusair, Mohammad El-Khateeb, Mahmoud Bashtawi

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Autism Spectrum disorder (ASD) is a psychiatric disorder with unknown etiology that mainly affects children in the first three years of life. Alterations of amino acid levels are believed to contribute to ASD. The levels of six essential amino acids (methionine, histidine, valine, leucine, threonine, and phenylalanine), five conditional amino acids (proline, tyrosine, glutamine, cysteine, and cystine), and five non-essential amino acids (asparagine, aspartic acid, alanine, serine, and glutamic acid) in hair samples of children with ASD (n = 25) were analyzed and compared to corresponding levels in healthy age-matched controls (n = 25). The results showed that the levels of methionine, alanine, and asparagine were significantly lower in the hair samples of ASD group compared to those of the control group (p ≤ 0.05). However, the levels of glutamic acid were significantly higher in the ASD group than the control group (p ≤ 0.05). The current findings could contribute towards further understanding of ASD etiology and provide specialists with a hair amino acid profile utilized as a biomarker for early diagnosis of ASD. Such biomarkers could participate in future developments of therapies that reduce ASD-related symptoms.

Keywords: autism spectrum disorder, amino acids, liquid chromatography-tandem mass spectrometry, human hair

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Authors: I. Caldas, T. Duarte

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Avoidant Restrictive Food Intake Disorder (ARFID) was included for the first time in DSM-5, replacing the old diagnosis of DSM-4 'Early Childhood Eating Disorder'. An ARFID is characterized by a restrictive/avoidant eating pattern that can lead to severe nutritional deficiency, weight loss, nutritional supplementation dependence, and poor psychosocial functioning. This eating pattern is associated with decreased interest in food, worries about food characteristics or the act of ingestion, and lack of concern with weight or body image. This paper aims to understand the impact of this new diagnosis in other Eating Disorders (ED) prevalence, as well as to compare their therapeutic approaches. Methodology: Literature reviewed by PubMed with the following keywords: 'ARFID', 'Prevalence', and 'Eating Disorders'. We selected articles related to this theme, written since 2016. Results: In a population of children hospitalized with ED, 5% to 14% was diagnosed with ARFID, and, as outpatient treatment, the prevalence was 22%. People diagnosed with ARFID have more prevalence of other comorbidities, especially autism spectrum, are younger, and are more often male. Regarding the treatment of ARFID, it most often required nasogastric feeding, and with less suffering associated with this procedure, compared to AN. Despite these differences, 12% of patients diagnosed with ARFID transited to AN during treatment, suggesting that the first pathology may be a risk factor for the development of AN. Conclusions: The differences identified between ARFID and the other EDs are important when analyzed as differential diagnostic hypotheses and therapeutic approaches. Further study is necessary regarding its prevalence, risk factors, and treatment.

Keywords: avoidant restrictive food intake disorder, ARFID, differential diagnoses, eating disorders, prevalence

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Authors: Yashvi Italiya

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Dysthymia (DD) is a much-overlooked soft mood disorder and mostly confused with other forms of chronic depression. This research paper gives a spotlight to the DD prevailing in men and women. It also focuses on one of the comorbidities of Dysthymia, i.e., Anxiety. The comorbidities, hurdles in diagnosis, the ubiquity of the disorder, and the relation of Anxiety and DD are briefly described. Gender was the main focus here because the researcher of this paper found it as a research gap while doing the literature review. The study was done through secondary data obtained primarily from a questionnaire having Alpha 0.891 reliability. T-test method of data analysis was used to test the hypotheses. The result shows that the researcher failed to accept alternative hypothesis 1 (M1 > M2), while the alternative hypothesis 2 (M1 > M2) was accepted. The ratio of DD in women (M1) is not higher than that of men (M2) (hypothesis 1). But, women are more anxious than men (hypothesis 2). It was found that comorbid Anxiety is more widespread in one gender. It further plays a significant role in mixing up the symptoms. It was concluded that the dividing line between Dysthymia and MDD is still unclear for an accurate diagnosis. There is an essential need for spreading knowledge concerning the differences between the symptoms of DD and MDD so that the actual disorder can be identified, and proper help can be received from/provided by professionals.

Keywords: anxiety, comorbidity, dysthymia, gender, MDD

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Authors: Khaled Salah

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Model order reduction has been one of the most challenging topics in the past years. In this paper, a hybrid solution of genetic algorithm (GA) and simulated annealing algorithm (SA) are used to approximate high-order transfer functions (TFs) to lower-order TFs. In this approach, hybrid algorithm is applied to model order reduction putting in consideration improving accuracy and preserving the properties of the original model which are two important issues for improving the performance of simulation and computation and maintaining the behavior of the original complex models being reduced. Compared to conventional mathematical methods that have been used to obtain a reduced order model of high order complex models, our proposed method provides better results in terms of reducing run-time. Thus, the proposed technique could be used in electronic design automation (EDA) tools.

Keywords: genetic algorithm, simulated annealing, model reduction, transfer function

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Authors: Ksenija Taški-Ajdukovic, Nevena Nagl, Živko Ćurčić, Dario Danojević

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Information about genetic diversity of sugar beet parental populations is of a great importance for hybrid breeding programs. The aim of this research was to evaluate genetic diversity among and within populations and lines of diploid sugar beet pollinators, by using SSR markers. As plant material were used eight pollinators originating from three USDA-ARS breeding programs and four pollinators from Institute of Field and Vegetable Crops, Novi Sad. Depending on the presence of self-fertility gene, the pollinators were divided into three groups: autofertile (inbred lines), autosterile (open-pollinating populations), and group with partial presence of autofertility gene. A total of 40 SSR primers were screened, out of which 34 were selected for the analysis of genetic diversity. A total of 129 different alleles were obtained with mean value 3.2 alleles per SSR primer. According to the results of genetic variability assessment the number and percentage of polymorphic loci was the maximal in pollinators NS1 and tester cms2 while effective number of alleles, expected heterozygosis and Shannon’s index was highest in pollinator EL0204. Analysis of molecular variance (AMOVA) showed that 77.34% of the total genetic variation was attributed to intra-varietal variance. Correspondence analysis results were very similar to grouping by neighbor-joining algorithm. Number of groups was smaller by one, because correspondence analysis merged IFVCNS pollinators with CZ25 into one group. Pollinators FC220, FC221 and C 51 were in the next group, while self-fertile pollinators CR10 and C930-35 from USDA-Salinas were separated. On another branch were self-sterile pollinators ЕL0204 and ЕL53 from USDA-East Lansing. Sterile testers cms1 and cms2 formed separate group. The presented results confirmed that SSR analysis can be successfully used in estimation of genetic diversity within and among sugar beet populations. Since the tested pollinator differed considering the presence of self-fertility gene, their heterozygosity differed as well. It was lower in genotypes with fixed self-fertility genes. Since the most of tested populations were open-pollinated, which rarely self-pollinate, high variability within the populations was expected. Cluster analysis grouped populations according to their origin.

Keywords: auto fertility, genetic diversity, pollinator, SSR, sugar beet

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Authors: Sudkhanoung Ritruechai, Somrak Choovanichwong, Kruawon Tiengtom, Peanchanan Leeudomwong

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The purposes of this qualitative research were to study the recovery experience of people with bipolar disorder and also to propose a development approach to the Bipolar Friends Club. The participants were eight people with bipolar disorder for six to twenty years (four women and four men). They have been members of the Bipolar Friends Club for two to ten years. They have no mental symptoms in order to provide sufficient information about their recovery experiences and have returned to everyday life with their family, community, and work. The data were collected by doing an in-depth interview. Two interviews were done, each from 45-90 minutes and four to five weeks apart. The researcher sent the results of the preliminary data analysis to the participants two to three days beforehand. Confirmation of the results of the preliminary data analysis from the first interview was done at the second interview. The research study found that the participants had a positive experience of being a Bipolar Club member. The club continued its activities following Recovery Oriented Service: ROS to the participants. As a result, they recovered in eight areas as follows. 1) Intellectual: The wisdom of joining the group has brought knowledge and experiences from an exchange with others in self-care as well as a positive thinking in life. 2) Social: The participants have set up a group to take care of each other and to do activities which have brought warmth. Their social network which was normally little has also been increased. 3) Spiritual: The concept of religion has been used to lead the life of the participants. 4) Occupational: One participant is a student while the others do work. All of them have done well. 5) Environmental: The participants would be able to adapt to the environment and cope with their problems better. 6) Physical: Most female participants have difficulties with losing weight which leads them saying that they are ‘not fully recovered’. 7) Emotional: The participants feel calmer than before entering the club. They have also developed more tolerance to problems. 8) Financial: The participants would be able to control their spending by themselves and with the help of their family members. The people with bipolar disorder have suggested that the services of the club are perfect and should be continued. The results of the study encourage the Bipolar Friends Club, as well as other clubs/associations that support the recovery of patients. Consideration of the recovery has highlighted the need for ongoing and various life-enhancing programs for the caregivers and their loved ones with bipolar disorder. Then, they would be able to choose the program that suits their needs to improve their life.

Keywords: people with bipolar disorder, recovery, club, experience

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Authors: Elanz Alimi, Mehdi Ghanadzade

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This current study compared the parents reported treatment and education priorities between verbal and nonverbal children with an autism spectrum disorder (ASD). Participants were 196 parents of 2 to 21-year-old (83 non-verbal and 113 verbal) children and adolescents with an ASD who completed questionnaires measuring parent’s treatment and education priorities, child’s educational and intervention programs and current child’s level of performance according to each skill. Results of this study indicated that parents of verbal children with autism spectrum disorder considered communication skills, community living skills and academic skills correspondingly as their highest intervention and education priorities and parents of non-verbal children with ASD reported communication skills, social relationship skills and self-care skills as the most significant priorities for their children. Findings show that for Iranian parents of both verbal and non-verbal children with ASD, communication skills are the most crucial treatment priority.

Keywords: autism, communication skills, Iran, parent’s priorities

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Authors: Mohammed Abdullah Basahi

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The objective of the present study was to identify the phylogenetic relationships and determine genetic diversity among Suaeda genotypes growing in Saudi Arabia and to find out whether these could be a potential source for genetic diversity. A set of nineteen genotypes was analyzed using twenty-four ISSR primers. Clear amplified polymorphic DNA products were obtained from the screening of twenty-four ISSR primers on nineteen genotypes that allowed selection of ten primers and the results were reproducible. Nineteen genotypes were revealed a unique profile with ten ISSR primers and thus it can be used for the DNA fingerprinting. Different primers produced a different level of polymorphism among the nineteen genotypes. The number of polymorphic bands per primer varied from 5 to 14 with an average of 8 bands per primer. The results revealed that the genotypes differed for ISSR markers. The genetic similarity based on Nei and Li’s ranged from 0.450 to 0.930. Cluster analysis was conducted based on ISSR data to group the Suaeda genotypes and to construct a dendrogram. Four groups can be distinguished by truncating the dendrogram at GS value of 0.54. ISSR markers showed high level of polymorphism among the genotypes examined. The present study indicates that ISSR markers could be successfully used in genetic characterization and diversity in Suaeda.

Keywords: suaeda, DNA fingerprinting, ISSR, Saudi Arabia

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Authors: M. C. Lin, C. W. Su

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The paper investigates the optimization analysis to the heat exchanger design, mainly with response surface method and genetic algorithm to explore the relationship between optimal fluid flow velocity and temperature of the heat exchanger using field synergy principle. First, finite volume method is proposed to calculate the flow temperature and flow rate distribution for numerical analysis. We identify the most suitable simulation equations by response surface methodology. Furthermore, a genetic algorithm approach is applied to optimize the relationship between fluid flow velocity and flow temperature of the heat exchanger. The results show that the field synergy angle plays vital role in the performance of a true heat exchanger.

Keywords: optimization analysis, field synergy, heat exchanger, genetic algorithm

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Authors: K. Ali, M. F. Qamar, M. A. Zaman, M. Younus, I. Khan, S. Ehtisham-ul-Haque, R. Tamkeen, M. I. Rashid, Q. Ali

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This study centers on molecular identification of Haemonchus contortus and isolation of Benz-imidazoles (BZ) resistant strains. Different abattoirs’ of two geographic regions of Punjab (Pakistan) were frequently visited for the collection of worms. Out of 1500 (n=1500) samples that were morphologically confirmed as H. contortus, 30 worms were subjected to molecular procedures for isolation of resistant strains. Resistant worms (n=8) were further subjected to DNA gene sequencing. Bio edit sequence alignment editor software was used to detect the possible mutation, deletion, replacement of nucleotides. Genetic diversity was noticed and genetic variation existing in β-tubulin isotype 1 of the H. contortus population of small ruminants of different regions considered in this study. H. contortus showed three different type of genetic sequences. 75%, 37.5%, 25% and 12.5% of the studied samples showed 100% query cover and identity with isolates and clones of China, UK, Australia and other countries, respectively. Interestingly the neighbor countries such as India and Iran haven’t many similarities with the Pakistani isolates. Thus, it suggests that population density of same genetic makeup H. contortus is scattered worldwide rather than clustering in a single region.

Keywords: Haemonchus contortus, Benzimidazole resistant, β-tubulin-1 gene, abattoirs

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Authors: Mohammedi Ferhate

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This work presents details of the study of the entire flow inside the facility where the exothermic chemical reaction process in the chemical laser cavity is analyzed. In our paper we will describe the principles of chemical lasers where flow reversal is produced by chemical reactions. We explain the device for converting chemical potential energy laser energy. We see that the phenomenon thus has an explosive trend. Finally, the feasibility and effectiveness of the proposed method is demonstrated by computer simulation

Keywords: genetic, lasers, nozzle, programming

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Authors: Richard Vuijk, Arnoud Arntz

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Rationale: To our knowledge treatment of personality disorder comorbidity in adults with autism spectrum disorder (ASD) is understudied and is still in its infancy: We do not know if treatment of personality disorders may be applicable to adults with ASD. In particular, it is unknown whether patients with ASD benefit from experiential techniques that are part of schema therapy developed for the treatment of personality disorders. Objective: The aim of the study is to investigate the efficacy of a schema mode focused treatment with adult clients with ASD and comorbid personality pathology (i.e. at least one personality disorder). Specifically, we investigate if they can benefit from both cognitive-behavioral, and experiential interventions. Study design: A multiple baseline case series study. Study population: Adult individuals (age > 21 years) with ASD and at least one personality disorder. Participants will be recruited from Sarr expertise center for autism in Rotterdam. The study requires 12 participants. Intervention: The treatment protocol consists of 35 weekly offered sessions, followed by 10 monthly booster sessions. A multiple baseline design will be used with baseline varying from 5 to 10 weeks, with weekly supportive sessions. After baseline, a 5-week exploration phase follows with weekly sessions during which current and past functioning, psychological symptoms, schema modes are explored, and information about the treatment will be given. Then 15 weekly sessions with cognitive-behavioral interventions and 15 weekly sessions with experiential interventions will be given. Finally, there will be a 10-month follow-up phase with monthly booster sessions. Participants are randomly assigned to baseline length, and respond weekly during treatment and monthly at follow-up on Belief Strength of negative core beliefs (by VAS), and fill out SMI, SCL-90 and SRS-A 7 times during screening procedure (i.e. before baseline), after baseline, after exploration, after cognitive and behavioral interventions, after experiential interventions, and after 5- and 10- month follow-up. The SCID-II will be administered during screening procedure (i.e. before baseline), at 5- and at 10-month follow-up. Main study parameters: The primary study parameter is negative core beliefs. Secondary study parameters include schema modes, personality disorder manifestations, psychological symptoms, and social interaction and communication. Discussion: To the best of author’s knowledge so far no study has been published on the application of schema mode focused interventions in adult patients with ASD and comorbid PD(s). This study offers the first systematic test of application of schema therapy for adults with ASD. The results of this study will provide initial evidence for the effectiveness of schema therapy in treating adults with both ASD and PD(s). The study intends to provide valuable information for future development and implementation of therapeutic interventions for adults with both ASD and PD(s).

Keywords: adults, autism spectrum disorder, personality disorder, schema therapy

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Authors: Linh Nguyen Tung, Anh Truong Viet, Nghien Nguyen Ba, Chuong Trinh Trong

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This paper proposes a reconfiguration methodology based on a continuous genetic algorithm (CGA) and particle swarm optimization (PSO) for minimizing active power loss and minimizing voltage deviation. Both algorithms are adapted using graph theory to generate feasible individuals, and the modified crossover is used for continuous variable of CGA. To demonstrate the performance and effectiveness of the proposed methods, a comparative analysis of CGA with PSO for network reconfiguration, on 33-node and 119-bus radial distribution system is presented. The simulation results have shown that both CGA and PSO can be used in the distribution network reconfiguration and CGA outperformed PSO with significant success rate in finding optimal distribution network configuration.

Keywords: distribution network reconfiguration, particle swarm optimization, continuous genetic algorithm, power loss reduction, voltage deviation

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Authors: Andrea J. Kirk-Jenkins

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Women in late adolescence and young adulthood are particularly vulnerable to disordered eating, and prior research indicates that those within the college and sorority communities may be especially susceptible. Research has primarily involved comparing eating disorder symptoms between sorority women and non-sorority members using formal eating disorder assessments. This phenomenological study examined sorority members’ (N = 10) perceptions of and lived experiences with various disordered eating behaviors within the sorority culture. Data from individual interviews and photographs indicated two structural themes and 11 textural themes related to factors associated with disordered eating behaviors. These findings point to the existence of both positive and negative aspects of sorority culture, normalization of disordered eating behaviors, and pressure to attain or maintain an ideal body image. Implications for university stakeholders, including college counselors, health center staff, and extracurricular program leaders, are discussed. Further research on the identified textural themes as well as a longitudinal study exploring how perceptions change from rush to alumnae status is suggested.

Keywords: eating disorders, disorder eating behaviors, sorority women, sorority culture, college women

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Authors: T. S. Sowmya Bhaskaran, Shekhar Seshadri

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This study aims to study the clinical features of with a history of Child Sexual Abuse (CSA). A chart review of 40 children (<16 years) with history of CSA evaluated at the Department of Child and Adolescent Psychiatry of NIMHANS during a two year period was performed. Results:The most common form of abuse was contact penetrative abuse (65%) followed by non-contact penetrative abuse (32.5%). 75% (N=30) had a psychiatric diagnosis at baseline. 50% of these children had one or more psychiatric comorbidities. Anxiety disorder was the most common diagnosis (27.5%) which included PTSD (11%) followed by Depressive disorder (25.2%). Children abused by multiple perpetrators were found to be more likely to have depression, to having a comorbid psychiatric disorder and more prone to exhibit sexualized behaviour. Children who also experienced physical violence at home were more likely to develop psychiatric illness following child sexual abuse. Psychiatric morbidity is high in clinic population of children with history of CSA. It is important to increase the awareness regarding the consequences of CSA in order to increase help seeking.

Keywords: child sexual abuse, India, tertiary care centre, clinical characteristics

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Authors: Mostafa Mjahed

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This paper concerns the control of a nonlinear system using two different methods, reference model and genetic algorithm. The quadcopter is a nonlinear unstable system, which is a part of aerial robots. It is constituted by four rotors placed at the end of a cross. The center of this cross is occupied by the control circuit. Its motions are governed by six degrees of freedom: three rotations around 3 axes (roll, pitch and yaw) and the three spatial translations. The control of such system is complex, because of nonlinearity of its dynamic representation and the number of parameters, which it involves. Numerous studies have been developed to model and stabilize such systems. The classical PID and LQ correction methods are widely used. If the latter represent the advantage to be simple because they are linear, they reveal the drawback to require the presence of a linear model to synthesize. It also implies the complexity of the established laws of command because the latter must be widened on all the domain of flight of these quadcopter. Note that, if the classical design methods are widely used to control aeronautical systems, the Artificial Intelligence methods as genetic algorithms technique receives little attention. In this paper, we suggest comparing two PID design methods. Firstly, the parameters of the PID are calculated according to the reference model. In a second phase, these parameters are established using genetic algorithms. By reference model, we mean that the corrected system behaves according to a reference system, imposed by some specifications: settling time, zero overshoot etc. Inspired from the natural evolution of Darwin's theory advocating the survival of the best, John Holland developed this evolutionary algorithm. Genetic algorithm (GA) possesses three basic operators: selection, crossover and mutation. We start iterations with an initial population. Each member of this population is evaluated through a fitness function. Our purpose is to correct the behavior of the quadcopter around three axes (roll, pitch and yaw) with 3 PD controllers. For the altitude, we adopt a PID controller.

Keywords: quadcopter, genetic algorithm, PID, fitness, model, control, nonlinear system

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Authors: S. Mousavian, F. Mousavian, V. Nikkhah Rashidabad

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Cubic equations of state like Redlich–Kwong (RK) EOS have been proved to be very reliable tools in the prediction of phase behavior. Despite their good performance in compositional calculations, they usually suffer from weaknesses in the predictions of saturated liquid density. In this research, RK equation was modified. The result of this study shows that modified equation has good agreement with experimental data.

Keywords: equation of state, modification, ammonia, genetic algorithm

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Authors: Seema Singh Parmar, Shweta Chauhan

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Aims & Objectives: To evaluate the presence of various psychiatric disorders in patients reporting with a headache as the only symptom. Methodology: 200 patients with the chief complain of a headache who visited the psychiatric OPD of a tertiary care were investigated. Out of them 50 who had pure psychiatric illness without any other neurological disease were investigated, and their diagnosis was made. Independent sample t-tests were applied to generate results. Results: The most common psychiatric diagnosis seen in the sample was Depression (64%) out of which 47% showed features of Depression with anxious distress. Other psychiatric disorders seen were Generalized Anxiety Disorder, Panic Attacks, Somatic Symptom Disorder and Obsessive Compulsive Disorder. For pure psychiatry, headache related illnesses female to male ratio was 1.64. Conclusion: The increasing frequency of psychiatric disorders among patients who only visit the doctor seeking treat a headache shows the need for better identification of psychiatric disorders because proper diagnosis and target of psychiatric treatment shall give complete relief to the patient’s symptomatology.

Keywords: anxiety disorders, depression, headache, panic attacks

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Authors: Sahar El Shair, Laura Greco, William Reay, Murray Cairns

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Background: Rheumatoid arthritis (RA) is a chronic, systematic, inflammatory, autoimmune disease that involves damages to joints and erosions to the associated bones and cartilage, resulting in reduced physical function and disability. RA is a multifactorial disorder influenced by heterogenous genetic and environmental factors. Whilst different medications have proven successful in reducing inflammation associated with RA, they often come with significant side effects and limited efficacy. To address this, the novel pharmagenic enrichment score (PES) algorithm was tested in self-reported RA patients from the UK Biobank (UKBB), which is a cohort of predominantly European ancestry, and identified individuals with a high genetic risk in clinically actionable biological pathways to identify novel opportunities for precision interventions and drug repurposing to treat RA. Methods and materials: Genetic association data for rheumatoid arthritis was derived from publicly available genome-wide association studies (GWAS) summary statistics (N=97173). The PES framework exploits competitive gene set enrichment to identify pathways that are associated with RA to explore novel treatment opportunities. This data is then integrated into WebGestalt, Drug Interaction database (DGIdb) and DrugBank databases to identify existing compounds with existing use or potential for repurposed use. The PES for each of these candidates was then profiled in individuals with RA in the UKBB (Ncases = 3,719, Ncontrols = 333,160). Results A total of 209 pathways with known drug targets after multiple testing correction were identified. Several pathways, including interferon gamma signaling and TID pathway (which relates to a chaperone that modulates interferon signaling), were significantly associated with self-reported RA in the UKBB when adjusting for age, sex, assessment centre month and location, RA polygenic risk and 10 principal components. These pathways have a major role in RA pathogenesis, including autoimmune attacks against certain citrullinated proteins, synovial inflammation, and bone loss. Encouragingly, many also relate to the mechanism of action of existing RA medications. The analyses also revealed statistically significant association between RA polygenic scores and self-reported RA with individual PES scorings, highlighting the potential utility of the PES algorithm in uncovering additional genetic insights that could aid in the identification of individuals at risk for RA and provide opportunities for more targeted interventions. Conclusions In this study, pharmacologically annotated genetic risk was explored through the PES framework to overcome inter-individual heterogeneity and enable precision drug repurposing in RA. The results showed a statistically significant association between RA polygenic scores and self-reported RA and individual PES scorings for 3,719 RA patients. Interestingly, several enriched PES pathways were targeted by already approved RA drugs. In addition, the analysis revealed genetically supported drug repurposing opportunities for future treatment of RA with a relatively safe profile.

Keywords: rheumatoid arthritis, precision medicine, drug repurposing, system biology, bioinformatics

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Authors: Wafa' Alsharafat, Suhila Farhan Abu-Owida

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Genetic algorithm (GA) is a powerful evolutionary searching technique that is used successfully to solve and optimize problems in different research areas. Genetic Algorithm (GA) considered as one of optimization methods used to solve Travel salesman Problem (TSP). The feasibility of GA in finding a TSP solution is dependent on GA operators; encoding method, population size, termination criteria, in general. In specific, crossover and its probability play a significant role in finding possible solutions for Symmetric TSP (STSP). In addition, the crossover should be determined and enhanced in term reaching optimal or at least near optimal. In this paper, we spot the light on using a modified crossover method called modified sequential constructive crossover and its impact on reaching optimal solution. To justify the relevance of a parameter value in solving the TSP, a set comparative analysis conducted on different crossover methods values.

Keywords: genetic algorithm, crossover, mutation, TSP

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Authors: Ekin Nurbaş

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One of the essential challenges in array signal processing, which has drawn enormous research interest over the past several decades, is estimating the direction of arrival (DOA) of plane waves impinging on an array of sensors. In recent years, the Compressive Sensing based DoA estimation methods have been proposed by researchers, and it has been discovered that the Compressive Sensing (CS)-based algorithms achieved significant performances for DoA estimation even in scenarios where there are multiple coherent sources. On the other hand, the Genetic Algorithm, which is a method that provides a solution strategy inspired by natural selection, has been used in sparse representation problems in recent years and provides significant improvements in performance. With all of those in consideration, in this paper, a method that combines the Genetic Algorithm (GA) and the Multi-Criteria Decision Making (MCDM) approaches for Direction of Arrival (DoA) estimation in the Compressive Sensing (CS) framework is proposed. In this method, we generate a multi-objective optimization problem by splitting the norm minimization and reconstruction loss minimization parts of the Compressive Sensing algorithm. With the help of the Genetic Algorithm, multiple non-dominated solutions are achieved for the defined multi-objective optimization problem. Among the pareto-frontier solutions, the final solution is obtained with the multiple MCDM methods. Moreover, the performance of the proposed method is compared with the CS-based methods in the literature.

Keywords: genetic algorithm, direction of arrival esitmation, multi criteria decision making, compressive sensing

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Authors: Salinee Thumronglaohapun

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The proper number and appropriate locations of service centers can save cost, raise revenue and gain more satisfaction from customers. Establishing service centers is high-cost and difficult to relocate. In long-term planning periods, several factors may affect the service. One of the most critical factors is uncertain demand of customers. The opened service centers need to be capable of serving customers and making a profit although the demand in each period is changed. In this work, the capacitated location-allocation problem with stochastic demand is considered. A mathematical model is formulated to determine suitable locations of service centers and their allocation to maximize total profit for multiple planning periods. Two heuristic methods, a local search and genetic algorithm, are used to solve this problem. For the local search, five different chances to choose each type of moves are applied. For the genetic algorithm, three different replacement strategies are considered. The results of applying each method to solve numerical examples are compared. Both methods reach to the same best found solution in most examples but the genetic algorithm provides better solutions in some cases.

Keywords: location-allocation problem, stochastic demand, local search, genetic algorithm

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Authors: Thibaud Berthomier, Ali Mansour, Luc Bressollette, Frédéric Le Roy, Dominique Mottier, Léo Fréchier, Barthélémy Hermenault

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Deep Venous Thrombosis (DVT) occurs when a thrombus is formed within a deep vein (most often in the legs). This disease can be deadly if a part or the whole thrombus reaches the lung and causes a Pulmonary Embolism (PE). This disorder, often asymptomatic, has multifactorial causes: immobilization, surgery, pregnancy, age, cancers, and genetic variations. Our project aims to relate the thrombus epidemiology (origins, patient predispositions, PE) to its structure using ultrasound images. Ultrasonography and elastography were collected using Toshiba Aplio 500 at Brest Hospital. This manuscript compares two classification approaches: spectral clustering and scattering operator. The former is based on the graph and matrix theories while the latter cascades wavelet convolutions with nonlinear modulus and averaging operators.

Keywords: deep venous thrombosis, ultrasonography, elastography, scattering operator, wavelet, spectral clustering

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Authors: Fayyaz Rasool, Shakeela Parveen

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The studies on genetic diversity of Labeo rohita by using molecular markers were carried out to investigate the genetic structure by RAPAD marker and the levels of polymorphism and similarity amongst the different groups of five populations of wild and farmed types. The samples were collected from different five locations as representatives of wild and hatchery raised populations. RAPAD data for Jaccard’s coefficient by following the un-weighted Pair Group Method with Arithmetic Mean (UPGMA) for Hierarchical Clustering of the similar groups on the basis of similarity amongst the genotypes and the dendrogram generated divided the randomly selected individuals of the five populations into three classes/clusters. The variance decomposition for the optimal classification values remained as 52.11% for within class variation, while 47.89% for the between class differences. The Principal Component Analysis (PCA) for grouping of the different genotypes from the different environmental conditions was done by Spearman Varimax rotation method for bi-plot generation of the co-occurrence of the same genotypes with similar genetic properties and specificity of different primers indicated clearly that the increase in the number of factors or components was correlated with the decrease in eigenvalues. The Kaiser Criterion based upon the eigenvalues greater than one, first two main factors accounted for 58.177% of cumulative variability.

Keywords: variation, clustering, PCA, wild, hatchery, RAPAD, Labeo rohita

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Authors: Naouelle Azzag, Nadia Haddad, Benoit Durand, Elisabeth Petit, Ali Ammouche, Bruno Chomel, Henri J. Boulouis

Abstract:

Bartonella henselae is a small, gram negative, arthropod-borne bacterium that has been shown to cause multiple clinical manifestations in humans including cat scratch disease, bacillary angiomatosis, endocarditis, and bacteremia. In this research, we report the results of a cross sectional study of Bartonella henselae bacteremia in stray cats from Algiers. Whole blood of 227 stray cats from Algiers was tested for the presence of Bartonella species by culture and for the evaluation of the genetic diversity of B. henselae strains by multi-locus variable number of tandem repeats assay (MLVA). Bacteremia prevalence was 17% and only B. henselae was identified. Type I was the predominant type (64%). MLVA typing of 259 strains from 30 bacteremic cats revealed 52 different profiles. 51 of these profiles were specific to Algerian cats/identified for the first time. 20/30 cats (67%) harbored 2 to 7 MLVA profiles simultaneously. The similarity of MLVA profiles obtained from the same cat, neighbor-joining clustering and structure-neighbor clustering showed that such a diversity likely results from two different mechanisms occurring either independently or simultaneously independent infections and genetic drift from a primary strain.

Keywords: Bartonella, cat, MLVA, genetic

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Authors: Öznur Özge Özcan, Canan Sercan, Hamza Kulaksız, Mesut Karahan, Korkut Ulucan

Abstract:

Genetic structure is very important to understand the brain dopamine system which is related to athletic performance. Hopefully, there will be enough studies about athletics performance in the terms of addiction-related genetic markers in the future. In the present study, we intended to investigate the Receptor-2 Gene (DRD2) rs1800497, which is related to brain dopaminergic system. 10 sprinter and 10 endurance athletes were enrolled in the study. Real-Time Polymerase Chain Reaction method was used for genotyping. According to results, A1A1, A1A2 and A2A2 genotypes in athletes were 0 (%0), 3 (%15) and 17 (%85). A1A1 genotype was not found and A2 allele was counted as the dominating allele in our cohort. These findings show that dopaminergic mechanism effects on sport genetic may be explained by the polygenic and multifactorial view.

Keywords: addiction, athletic performance, genotype, sport genetics

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Authors: Seyed Reza Aghili, Tahereh Shokohi, Shirin Sadat Hashemi Fesharaki, Mohammad Ali Boroumand, Bahar Salmanian

Abstract:

Introduction: Intravenous catheter-associated fungal infection as nosocomial infection continue to be a deep problem among hospitalized patients, decreasing quality of life and adding healthcare costs. The capacity of catheters in the spread of candidemia in heart failure patients is obvious. The aim of this study was to evaluate the prevalence and genetic identification of Candida species in heart disorder patients. Material and Methods: This study was conducted in Tehran Hospital of Cardiology Center (Tehran, Iran, 2014) during 1.5 years on the patients hospitalized for at least 7 days and who had central or peripheral vein catheter. Culture of catheters, blood and skin of the location of catheter insertion were applied for detecting Candida colonies in 223 patients. Identification of Candida species was made on the basis of a combination of various phenotypic methods and confirmed by sequencing the ITS1-5.8S-ITS2 region amplified from the genomic DNA using PCR and the NCBI BLAST. Results: Of the 223 patients samples tested, we identified totally 15 Candida isolates obtained from 9 (4.04%) catheter cultures, 3 (1.35%) blood cultures and 2 (0.90%) skin cultures of the catheter insertion areas. On the base of ITS region sequencing, out of nine Candida isolates from catheter, 5(55.6%) C. albicans, 2(22.2%) C. glabrata, 1(11.1%) C. membranifiaciens and 1 (11.1%) C. tropicalis were identified. Among three Candida isolates from blood culture, C. tropicalis, C. carpophila and C. membranifiaciens were identified. Non-candida yeast isolated from one blood culture was Cryptococcus albidus. One case of C. glabrata and one case of Candida albicans were isolated from skin culture of the catheter insertion areas in patients with positive catheter culture. In these patients, ITS region of rDNA sequence showed a similarity between Candida isolated from the skin and catheter. However, the blood samples of these patients were negative for fungal growth. We report two cases of catheter-related candidemia caused by C. membranifiaciens and C. tropicalis on the base of genetic similarity of species isolated from blood and catheter which were treated successfully with intravenous fluconazole and catheter removal. In phenotypic identification methods, we could only identify C. albicans and C. tropicalis and other yeast isolates were diagnosed as Candida sp. Discussion: Although more than 200 species of Candida have been identified, only a few cause diseases in humans. There is some evidence that non-albicans infections are increasing. Many risk factors, including prior antibiotic therapy, use of a central venous catheter, surgery, and parenteral nutrition are considered to be associated with candidemia in hospitalized heart failure patients. Identifying the route of infection in candidemia is difficult. Non-albicans candida as the cause of candidemia is increasing dramatically. By using conventional method, many non-albicans isolates remain unidentified. So, using more sensitive and specific molecular genetic sequencing to clarify the aspects of epidemiology of the unknown candida species infections is essential. The positive blood and catheter cultures for candida isolates and high percentage of similarity of their ITS region of rDNA sequence in these two patients confirmed the diagnosis of intravenous catheter-associated candidemia.

Keywords: catheter-associated infections, heart failure patient, molecular genetic sequencing, ITS region of rDNA, Candidemia

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