Search results for: complex genetic disorder

Authors: J. G. Batista, T. S. Santiago, E. A. Ribeiro, G. A. P. Thé

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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 measure and/or expected values.

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

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Authors: Mehdi Rostamzadeh

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Genetic Algorithms (GAs) are an adaptive heuristic search algorithm premised on the evolutionary ideas of natural selection and genetic. In this study, we apply GAs for fundamental and technical models of exchange rate determination in exchange rate market. In this framework, we estimated absolute and relative purchasing power parity, Mundell-Fleming, sticky and flexible prices (monetary models), equilibrium exchange rate and portfolio balance model as fundamental models and Auto Regressive (AR), Moving Average (MA), Auto-Regressive with Moving Average (ARMA) and Mean Reversion (MR) as technical models for Iranian Rial against European Union’s Euro using monthly data from January 1992 to December 2014. Then, we put these models into the genetic algorithm system for measuring their optimal weight for each model. These optimal weights have been measured according to four criteria i.e. R-Squared (R2), mean square error (MSE), mean absolute percentage error (MAPE) and root mean square error (RMSE).Based on obtained Results, it seems that for explaining of Iranian Rial against EU Euro exchange rate behavior, fundamental models are better than technical models.

Keywords: exchange rate, genetic algorithm, fundamental models, technical models

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Authors: Annabel Burnley, Michelle St. Clair, Charlotte Dack, Yvonne Wren

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Children with Developmental Language Disorder (DLD) are well documented to experience social and emotional difficulties. Despite this, there is little consensus as to how these difficulties manifest, without which the ability to develop prevention initiatives is limited. An online survey was completed by 107 parents of either child with DLD (‘DLD sample’; n=57), or typically developing children (‘typical sample’; n=50), all aged 6-12 years old. Psychosocial symptom measures were used, alongside 11 psychosocial statements generated from previous qualitative work. Qualitative interviews were then held to understand the manifestation of key difficulties in more depth (n=4). The DLD sample scored significantly higher on all psychosocial statements than the typical sample. Experiencing anxiety (80.7%), requiring routine and sameness (75.4%) and struggling to regulate their emotions (75.4%) were the most common difficulties for a majority of children with DLD. For this DLD sample, family communication and coping styles were found not to contribute to the manifestation of these difficulties. Two separate mediation models were run to understand the role of other psychosocial difficulties in the manifestation of (1) anxiety and (2) social frustration. ‘Intolerance of uncertainty was found to strongly mediate the relationship between DLD diagnosis and symptoms of anxiety. Emotion regulation was found to moderately mediate the relationship between DLD diagnosis and social frustration. Parents appear to cope well with their children’s complex psychosocial needs, but further external intervention is needed. Intervention focussing on intolerance of uncertainty and emotion dysregulation may help the management of anxiety and social frustration. Further research is needed to understand the children’s routined behaviors.

Keywords: psychosocial difficulties, developmental language disorder, specific language impairment, parent, anxiety

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Authors: M. D. Antoine

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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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Authors: M. A. Rubio, A. Urquia

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Genetic algorithms (GA) are applied to the solution of high-dimensional optimization problems. Additionally, sensitivity analysis (SA) is usually carried out to determine the effect on optimal solutions of changes in parameter values of the objective function. These two analyses (i.e., optimization and sensitivity analysis) are computationally intensive when applied to high-dimensional functions. The approach presented in this paper consists in performing the SA during the GA execution, by statistically analyzing the data obtained of running the GA. The advantage is that in this case SA does not involve making additional evaluations of the objective function and, consequently, this proposed approach requires less computational effort than conducting optimization and SA in two consecutive steps.

Keywords: optimization, sensitivity, genetic algorithms, model calibration

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Authors: Dilani Wimalasiri, Robert Brkljaca, Sylvia Urban, Terrence Piva, Tien Huynh

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Momordica cochinchinensis (Cucurbitaceae) is used as food and traditional medicine in South East Asia and is commonly known as Red Gac. The fruit aril consists 70 times higher lycopene and 10 times higher β-carotene than all known fruits and vegetables. Despite its nutritional value there is little information available on its genetic variation and its influence on nutritional value. In this study; genetic and nutritional variation (lycopene and β-carotene) was investigated among 47 M. cochinchinensis samples collected from Australia, Thailand and Vietnam using molecular markers (RAPD and ISSR) and HPLC, respectively. UPGMA based cluster analysis of genetic data grouped Northern and Central Vietnam samples together but were separated from Australia, Thailand and Southern Vietnam samples. The concentration of lycopene was significantly higher among the samples collected from Central Vietnam (p<0.05) and the concentration of β-carotene was significantly higher among the samples collected from Northern Vietnam (p<0.05) indicating the existence of best varieties. This study provides vital information in genetic diversity and facilitates the selection and breeding for nutritious M. cochinchinensis varieties.

Keywords: momordica cochinchinensis, lycopene, beta carotene, genetic diversity

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Authors: Zia Amjad, Salem S. Alghamdi

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This experiment was carried out at student educational farm College of Food and Agriculture, KSU, kingdom of Saudi Arabia; in order to characterize 154 V. faba accessions based on UPOV and IBPGR descriptors. 24 agro-morphological characters including 11 quantitative and 13 qualitative were observed for genetic variation. All the results were analyzed using multivariate analysis i.e. principle component analysis (PCA). First six principle components (PC) had Eigen-value greater than one; accounted for 72% of available V. faba genetic diversity. However first three components revealed more than 10% of genetic diversity each i.e. 22.36%, 15.86% and 10.89% respectively. PCA distributed the V. faba accessions into different groups based on their performance for the characters under observation. PC-1 which represented 22.36% of the genetic diversity was positively associated with stipule spot pigmentation, intensity of streaks, pod degree of curvature and to some extent with 100 seed weight. PC-2 covered 15.86 of the genetic diversity and showed positive association for average seed weight per plant, pod length, number of seeds per plant, 100 seed weight, stipule spot pigmentation, intensity of streaks (same as in PC-1) and to some extent for pod degree of curvature and number of pods per plant. PC-3 revealed 10.89% of genetic diversity and expressed positive association for number of pods per plant and number of leaflets per plant.

Keywords: agro morphological characterization, diversity, vicia faba, PCA

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Authors: Parsa Sheikhzadeh

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Polar bodies are cells that form by oogenesis in meiosis which differentiate and develop from oocytes. Although in many animals, these cells often die following meiotic maturation of the oocyte. Oocyte activation is during mammalian fertilization, sperm is fused with the oocyte's membrane, triggering the resumption of meiosis from the metaphase II arrest, the extrusion of the second polar body, and the exocytosis of cortical granules. The origin recognition complex proteins 4 (ORC4) forms a cage around the set of chromosomes that will be extruded during polar body formation before it binds to the chromatin shortly before zygotic DNA replication. One unique feature of the female gamete is that the polar bodies can provide beneficial information about the genetic background of the oocyte without potentially destroying it. Testing at the polar body (PB) stage was the least accurate, mainly due to the high incidence of post-zygotic events. On the other hand, the results from PB1-MII oocyte pair validated that PB1 contains nearly the same methylome (average Pearson correlation is 0.92) with sibling MII oocyte. In this article, we comprehensively examine the role of polar bodies in female human gametes.

Keywords: polar bodies, ORC4, oocyte, genetic, methylome, gamete, female

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Authors: Qazi Salman Khalid, Muhammad Khalid, Shahid Maqsood

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This paper presents a solution for optimizing the cycle time in an assembly line with human-robot collaboration and diverse operators. A genetic algorithm with tailored parameters is used to address the assembly line balancing problem in the automobile sector. A mathematical model is developed, depicting the problem. Currently, the firm runs on the largest candidate rule; however, it causes a lag in orders, which ultimately gets penalized. The results of the study show that the proposed GA is effective in providing efficient solutions and that the cycle time has significantly impacted productivity.

Keywords: line balancing, cycle time, genetic algorithm, productivity

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Authors: Kinnsley Travis, Camerron M. Crowder

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Mapk8ip3 (Mitogen-Activated Protein Kinase 8 Interacting Protein 3) is a gene that codes for the JIP3 protein, which is a part of the JIP scaffolding protein family. This protein is involved in axonal vesicle transport, elongation and regeneration. Variants in the Mapk8ip3 gene are associated with a rare-genetic condition that results in a neurodevelopmental disorder that can cause a range of phenotypes including global developmental delay and intellectual disability. Currently, there are 18 known individuals diagnosed to have sequenced confirmed Mapk8ip3 genetic disorders. This project focuses on examining the impact of a subset of missense patient variants on the Jip3 protein function by overexpressing the mRNA of these variants in a zebrafish knockout model for Jip3. Plasmids containing cDNA with individual missense variants were reverse transcribed, purified, and injected into single-cell zebrafish embryos (Wild Type, Jip3 -/+, and Jip3 -/-). At 6-days post mRNA microinjection, morphological, behavioral, and microscopic phenotypes were examined in zebrafish larvae. Morphologically, we compared the size and shape of the zebrafish during their development over a 5-day period. Total locomotive activity was assessed using the Microtracker assay and patterns of movement over time were examined using the DanioVision assay. Lastly, we used confocal microscopy to examine sensory axons for swelling and shortened length, which are phenotypes observed in the loss-of-function knockout Jip3 zebrafish model. Using these assays during embryonic development, we determined the impact of various missense variants on Jip3 protein function, compared to knockout and wild-type zebrafish embryo models. Variants in the gene Mapk8ip3 cause rare-neurodevelopmental disorders due to an essential role in axonal vesicle transport, elongation and regeneration. A subset of missense variants was examined by overexpressing the mRNA of these variants in a Jip3 knock-out zebrafish. Morphological, behavioral, and microscopic phenotypes were examined in zebrafish larvae. Using these assays, the spectrum of disorders can be phenotypically determined and the impact of variant location can be compared to knockout and wild-type zebrafish embryo models.

Keywords: rare disease, neurodevelopmental disorders, mrna overexpression, zebrafish research

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Authors: Samira Cherid, Samir Bentata, Feyza Zahira Meghoufel, Yamina Sefir, Sabria Terkhi, Fatima Bendahma, Bouabdellah Bouadjemi, Ali Zitouni

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Using the transfer-matrix technique and the Kronig Penney model, we numerically and analytically investigate the effect of short-range correlated disorder in random dimer model (RDM) on transmission properties of light in one dimension photonic crystals made of three different materials. Such systems consist of two different structures randomly distributed along the growth direction, with the additional constraint that one kind of these layers appears in pairs. It is shown that the one-dimensional random dimer photonic crystals support two types of extended modes. By shifting of the dimer resonance toward the host fundamental stationary resonance state, we demonstrate the existence of the ballistic response in these systems.

Keywords: photonic crystals, disorder, correlation, transmission

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Authors: Mohammadhadi Mirmohammadi, Reza Safian, Hossein Haddad

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This paper presents an innovative solution for complex multi-objective optimization problem which is a part of efforts toward maximizing rolling mill throughput and minimizing processing costs in tandem cold rolling. This computational intelligence based optimization has been applied to the rolling schedules of tandem cold rolling mill. This method involves the combination of two derivative-free optimization procedures in the form of nested loops. The first optimization loop is based on Improving Hit and Run method which focus on balance of power, force and reduction distribution in rolling schedules. The second loop is a real-coded genetic algorithm based optimization procedure which optimizes energy consumption and productivity. An experimental result of application to five stand tandem cold rolling mill is presented.

Keywords: derivative-free optimization, Improving Hit and Run method, real-coded genetic algorithm, rolling schedules of tandem cold rolling mill

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Authors: Goodarzvand Fatemeh, Soori Rahman, Effatpanah Mohammad, Ajbarnejad Ali

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Attention deficit hyperactivity disorder (ADHD) is characterized by a pervasive pattern of developmentally inappropriate inattentive, impulsive and hyperactive behaviors that typically begin during the preschool ages and often persist into adulthood. This disorder is related to autism and schizophrenia and other psychological disorders and clinical conditions such as insulin resistance and they may operate through common pathways, and treatments used exclusively for one of these conditions may prove beneficial for the others. While ADHD is not fully understood as developmental disorder with an etiopathogeny, but studies show that core symptom of disorder was associated with and increased by the interleukins IL-13, where relation of IL-13 with inattention was notable. Regular exercise improves functions associated with attention deficit hyperactivity disorder (ADHD). However, the impact of exercise on cytokines associated with the disease activity remains relatively unexplored. The aim of this study was to examine the effects of 6 weeks high intensity by intervals training (HIIT) on IL-13 levels and insulin resistance in boys with ADHD. Twenty eight boys with ADHD disease in a range of 12-18 year of old participated in this study as the subject. Subjects were divided into control group (n=10) and training group (n=18) randomly. The training group performed progressive HIIT program, 3 days a week for 6 weeks. The control group was in absolute rest at the same time. The results showed that after six weeks of HIIT, IL-13 decreased in the exercise group and these changes achieved (p= 0.002) statistical significance (p < 0.005). The results suggest HIIT with specific intensity and duration utilized in this study had not significant effect on insulin resistance levels in female patients with ADHD (p=0.39), while the difference in the average control and case group was decreased.

Keywords: attention deficit hyperactivity disorder, interleukin 13, insulin resistance, high intensity by intervals training

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Authors: Iman Farasat, Howard M. Salis

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Engineered genetic circuits reprogram cellular behavior to act as living computers with applications in detecting cancer, creating self-controlling artificial tissues, and dynamically regulating metabolic pathways. Phenemenological models are often used to simulate and design genetic circuit behavior towards a desired behavior. While such models assume that each circuit component’s function is modular and independent, even small changes in a circuit (e.g. a new promoter, a change in transcription factor expression level, or even a new media) can have significant effects on the circuit’s function. Here, we use statistical thermodynamics to account for the several factors that control transcriptional regulation in bacteria, and experimentally demonstrate the model’s accuracy across 825 measurements in several genetic contexts and hosts. We then employ our first principles model to design, experimentally construct, and characterize a family of signal amplifying genetic circuits (genetic OpAmps) that expand the dynamic range of cell sensors. To develop these models, we needed a new approach to measuring the in vivo binding free energies of transcription factors (TFs), a key ingredient of statistical thermodynamic models of gene regulation. We developed a new high-throughput assay to measure RNA polymerase and TF binding free energies, requiring the construction and characterization of only a few constructs and data analysis (Figure 1A). We experimentally verified the assay on 6 TetR-homolog repressors and a CRISPR/dCas9 guide RNA. We found that our binding free energy measurements quantitatively explains why changing TF expression levels alters circuit function. Altogether, by combining these measurements with our biophysical model of translation (the RBS Calculator) as well as other measurements (Figure 1B), our model can account for changes in TF binding sites, TF expression levels, circuit copy number, host genome size, and host growth rate (Figure 1C). Model predictions correctly accounted for how these 8 factors control a promoter’s transcription rate (Figure 1D). Using the model, we developed a design framework for engineering multi-promoter genetic circuits that greatly reduces the number of degrees of freedom (8 factors per promoter) to a single dimensionless unit. We propose the Ptashne (Pt) number to encapsulate the 8 co-dependent factors that control transcriptional regulation into a single number. Therefore, a single number controls a promoter’s output rather than these 8 co-dependent factors, and designing a genetic circuit with N promoters requires specification of only N Pt numbers. We demonstrate how to design genetic circuits in Pt number space by constructing and characterizing 15 2-repressor OpAmp circuits that act as signal amplifiers when within an optimal Pt region. We experimentally show that OpAmp circuits using different TFs and TF expression levels will only amplify the dynamic range of input signals when their corresponding Pt numbers are within the optimal region. Thus, the use of the Pt number greatly simplifies the genetic circuit design, particularly important as circuits employ more TFs to perform increasingly complex functions.

Keywords: transcription factor, synthetic biology, genetic circuit, biophysical model, binding energy measurement

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Authors: Mariam Anwaar, Kiran B. Ahmad

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Borderline Personality Disorder (BPD) is an invasive presence of affect instability, disturbance in self-concept and attachment in relationships. The profound indicator is the dichotomous approach of the world in which the ego categorizes individuals, especially their significant others, into secure or threatful beings, leaving little room for a complex combination of characteristics in one person. This defense mechanism of splitting their world has been described through the explanatory model of unconscious conflict theorized by Sigmund Freud’s Electra Complex in the Phallic Stage. The central role is of the father with whom the daughter experiences penis envy, thus identifying with the mother’s characteristics to receive the father’s attention. However, Margret Mahler, an object relation theorist, elucidates the central role of the mother and that the split occurs during the pre-Electra complex stage. Amid the 14 and 24 months of the infant, it acknowledges the world away from the mother as they have developed milestones such as crawling. In such novelty, the infant crawls away from the mother creating a sense of independence (individuation). On the other hand, being distant causes anxiety, making them return to their original object of security (separation). In BPD, the separation-individuation stage is disrupted, due to contradictory actions of the caregiver, which results in splitting the object into negative and positive aspects, repressing the former and adhering to the latter for survival. Thus, with time, the ego distorts the reality into dichotomous categories, using the splitting defenses, and the mental representation of the self is distorted due to the internalization of the negative objects. The explanatory model was recognized in the case study of Fizza, at 21-year-old Pakistani female, residing in Karachi. Her marital status is single with an occupation being a dental student. Fizza lives in a nuclear family but is surrounded by her extended family as they all are in close vicinity. She came with the complaints of depressive symptoms for two-years along with self-harm due to severe family conflicts. Through the intervention of Dialectical Behavior Therapy (DBT), the self-harming actions were reduced, however, this libidinal energy transformed into claustrophobic symptoms and, along with this, Fizza has always experienced vivid dreams. A retrospective method of Jungian dream-analysis was applied to locate the origins of the splitting in the unconscious. The result was the revelation of a sexual harassment trauma at the age of six-years which was displaced in the form of self-harm. In addition to this, the presence of a conflict at the separation-individuation stage was detected during the dream-analysis, and it was the underlying explanation of the claustrophobic symptoms. This qualitative case study implicates the use of a patient’s subjective experiences, such as dreams, to journey through the spiral of the unconscious in order to not only detect repressed memories but to use them in psychotherapy as a means of healing the patient.

Keywords: borderline personality disorder, dream-analysis, Electra complex, separation-individuation, splitting, unconscious

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Authors: Mohammed Khamis Albalushi

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Background: Somatic symptoms disorders are usually comorbid with depressive disorders despite the fact that there is little evidence for effective treatment for it. Repetitive transcranial magnetic stimulation (rTMS) has been approved by the FDA for mildly resistant depression. From this point, we hypothesized that rTMS delivered over the prefrontal cortex (PFC) may be useful in somatic symptoms disorder. Therefore, in our case report, we want to shed light on the potential effectiveness of rTMS in somatic symptoms disorder. Case Report: A 65-year-old Omani female with multiple medical comorbidities on multiple medications. She presented complaining of multiple somatic complaints in the last 2 years after visiting multiple clinics and underwent several specialists’ examinations, investigations and procedures for somatic treatments; all of them were normal. Then patient was seen by a different psychiatric clinic; multiple anti-depressant and adjuvant anti-psychotic medications were tried, patient still did not improve. The patient was admitted to the hospital for observation and management. Initially, she was preoccupied with her somatic complaint and kept on Fluoxetine and Olanzapine along with that, topiramate was added, but still with minimal improvement. Then rTMS was added to her management plan following Intermittent theta burst (iTBS) rTMS protocol. After completing all sessions of rTMS, the patient was recovering from all her symptoms, and no complaints were reported from her. Conclusion: Our case highlights the importance of investigating more thoroughly in rTMS as a treatment option for Persistent Somatic symptoms Disorder.

Keywords: rTMS, somatic symptoms disorder, resistive cases, TMS

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Authors: Theresa Slump, Paula Neumeister, Katharina Feldker, Carina Y. Heitmann, Thomas Straube

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A characteristic feature of post-traumatic stress disorder (PTSD) is the automatic processing of disorder-specific stimuli that expresses itself in intrusive symptoms such as intense physical and psychological reactions to trauma-associated stimuli. That automatic processing plays an essential role in the development and maintenance of symptoms. The aim of our study was, therefore, to investigate the behavioral and neural correlates of automatic processing of trauma-related stimuli in PTSD. Although interpersonal traumatization is a form of traumatization that often occurs, it has not yet been sufficiently studied. That is why, in our study, we focused on patients suffering from interpersonal traumatization. While previous imaging studies on PTSD mainly used faces, words, or generally negative visual stimuli, our study presented complex trauma-related and neutral visual scenes. We examined 19 female subjects suffering from PTSD and examined 19 healthy women as a control group. All subjects did a geometric comparison task while lying in a functional-magnetic-resonance-imaging (fMRI) scanner. Trauma-related scenes and neutral visual scenes that were not relevant to the task were presented while the subjects were doing the task. Regarding the behavioral level, there were not any significant differences between the task performance of the two groups. Regarding the neural level, the PTSD patients showed significant hyperactivation of the hippocampus for task-irrelevant trauma-related stimuli versus neutral stimuli when compared with healthy control subjects. Connectivity analyses revealed altered connectivity between the hippocampus and other anxiety-related areas in PTSD patients, too. Overall, those findings suggest that fear-related areas are involved in PTSD patients' processing of trauma-related stimuli even if the stimuli that were used in the study were task-irrelevant.

Keywords: post-traumatic stress disorder, automatic processing, hippocampus, functional magnetic resonance imaging

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Authors: Elsheikh Asser

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Time and cost are the main goals of the construction project management. The first schedule developed may not be a suitable schedule for beginning or completing the project to achieve the target completion time at a minimum total cost. In general, there are trade-offs between time and cost (TCT) to complete the activities of a project. This research presents genetic algorithms (GAs) multi-objective model for project scheduling considering different scenarios such as least cost, least time, and target time.

Keywords: genetic algorithms, time-cost trade-off, multi-objective model, project scheduling

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Authors: Javiera Espinosa, Patricia López, Noelia Santos, Nadia Loro, Esther Moraleda

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In recent years, there has been a notable increase in the number of investigations that establish that Down Syndrome and Autism Spectrum Disorder are diagnoses that can coexist together. However, there are also many studies that consider that both diagnoses present neuropsychological, linguistic and adaptive characteristics with a totally different profile. The objective of this research is to question whether there really can be a profile that encompasses both disorders or if they can be incompatible with each other. To this end, a review of the scientific literature of recent years has been carried out. The results indicate that the two lines collect opposite approaches. On the one hand, there is research that supports the increase in comorbidity between Down Syndrome and Autism Spectrum Disorder, and on the other hand, many investigations show a totally different general development profile between the two. The discussion focuses on discussing both lines of work and on proposing future lines of research in this regard.

Keywords: disability, language, speech, down syndrome

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Authors: Zia Amjad, Salem Safar Alghamdi

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This experiment was carried out at student educational farm College of Food and Agriculture, KSU, kingdom of Saudi Arabia; in order to characterize 154 Vicia faba, characterization, PCA, ago-morphological diversity. Icia faba L. accessions were based on ipove and ibpgr descriptors. 24 agro-morphological characters including 11 quantitative and 13 qualitative were observed for genetic variation. All the results were analyzed using multivariate analysis i.e. principle component analysis. First 6 principle components with eigenvalue greater than one; accounted for 72% of available Vicia faba genetic diversity. However, first three components revealed more than 10% of genetic diversity each i.e. 22.36%, 15.86%, and 10.89% respectively. PCA distributed the V. faba accessions into different groups based on their performance for the characters under observation. PC-1 which represented 22.36% of the genetic diversity was positively associated with stipule spot pigmentation, intensity of streaks, pod degree of curvature and to some extent with 100 seed weight. PC-2 covered 15.86 of the genetic diversity and showed positive association for average seed weight per plant, pod length, number of seeds per plant, 100 seed weight, stipule spot pigmentation, intensity of streaks (same as in PC-1), and to some extent for pod degree of curvature and number of pods per plant. PC-3 revealed 10.89% of genetic diversity and expressed positive association for number of pods per plant and number of leaflets per plant.

Keywords: Vicia faba, characterization, PCA, ago-morphological diversity

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Authors: M. G. Gopisankar, A. Surendiran, M. Hemachandren

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The dose requirement of warfarin to achieve target INR range varies in patients with prosthetic heart valve. This variation in is affected by both genetic and non-genetic factors. Earlier studies have identified role of CYP2C9 and VKORC1 genetic polymorphisms on warfarin dose requirement. Warfarin being a substrate for drug transporter, P-glycoprotein coded by ABCB1 gene, may also be influenced by its genetic polymorphisms. This study was aimed to study the effect of single nucleotide polymorphism (SNP), ABCB1 2677G > T on warfarin maintenance dose requirement in patients with steady-state International Normalized Ratio (INR). The median dose requirement was significantly different between the genotype groups GG vs. GT (35 ± 20; 42.5 ± 18, p < 0.05), GG vs. TT (35 ± 20; 41.25 ± 25, p<0.05). There was no significant difference between GT vs. TT. In conclusion, patients with variant allele require a higher weekly maintenance dose of warfarin compared to patients without variant allele.

Keywords: warfarin pharamcogenetics, pharmacogenomics of warfarin, ABCB1 and warfarin, pglycoprotein and warfarin

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Authors: Kiana Taghikhan, Shamim Sherafat, Mostafa Taheri

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Although many people with autism spectrum disorder around the world face many problems and challenges, their conditions may unintentionally affect the lives of the people around them. In this research the experiences of siblings of autistic children have been investigated in both the public and private spheres of their lives. "Private sphere" includes the experiences of research participants in socializing with relatives and family, assignments and responsibilities, as well as how they spend their leisure time and lifestyle. The "public sphere" includes the experience of their presence in society, such as university, or workplace and any outdoor activities that could have been affected by their sibling’s disorder. The present research has been done using the qualitative research method and in-depth interview technique with siblings of autistic children. The sample population is 15 individuals who participated in the research theoretically and purposefully. Based on the findings, the private and social experiences of these individuals is very different compared to peers who do not have siblings with autism disorder in the family. The difference is to such an extent that causes them to separate and distance themselves from other members of the society, and depending on their special conditions, it can affect their goals and life opportunities such as job, marriage, having children, etc.

Keywords: autism spectrum disorder, siblings, private sphere, public sphere

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Authors: M. Y. Abubakar, Ipinjolu J. K., Yuzine B. Esa, Magawata I., Hassan W. A., Turaki A. A.

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Catfish (Heterobranchus spp.) is a major freshwater fish that are widely distributed in Nigeria waters and are gaining rapid aquaculture expansion. However, indiscriminate artificial crossbreeding of the species with others poses a threat to their biodiversity. There is a paucity of information about the genetic variability, hence this insight on the genetic variability is badly needed, not only for the species conservation but for aquaculture expansion. In this study, we tested the level of Genetic diversity, population differentiation and phylogenetic relationship analysis on 35 individuals of two populations of Heterobranchus bidorsalis and 29 individuals of three populations of Heterobranchus longifilis using the mitochondrial cytochrome c oxidase subunit I (mtDNA COI) gene sequence. Nucleotide sequences of 650 bp fragment of the COI gene of the two species were compared. In the whole 4 and 5 haplotypes were distinguished in the populations of H. bidorsalis & H. longifilis with accession numbers (MG334168 - MG334171 & MG334172 to MG334176) respectively. Haplotypes diversity indices revealed a range of 0.59 ± 0.08 to 0.57 ± 0.09 in H. bidorsalis and 0.000 to 0.001051 ± 0.000945 in H. longifilis population, respectively. Analysis of molecular variance (AMOVA) revealed no significant variation among H. bidorsalis population of the Niger & Benue Rivers, detected significant genetic variation was between the Rivers of Niger, Kaduna and Benue population of H. longifilis. Two main clades were recovered, showing a clear separation between H. bidorsalis and H. longifilis in the phylogenetic tree. The mtDNA COI genes studied revealed high gene flow between populations with no distinct genetic differentiation between the populations as measured by the fixation index (FST) statistic. However, a proportion of population-specific haplotypes was observed in the two species studied, suggesting a substantial degree of genetic distinctiveness for each of the population investigated. These findings present the description of the species character and accessions of the fish’s genetic resources, through gene sequence submitted in Genetic database. The data will help to protect their valuable wild resource and contribute to their recovery and selective breeding in Nigeria.

Keywords: AMOVA, genetic diversity, Heterobranchus spp., mtDNA COI, phylogenetic tree

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Authors: Riksa Parikrama, Bremmy Laksono, Dadang S. H. Effendi

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Disorder of sexual development (DSD) covers various conditions with a specific term such as Klinefelter syndrome, Turner syndrome, androgen insensitivity syndrome, and many more. The techniques to accurately diagnose those conditions has developed extensively. However, conventional karyotype and fluorescence in situ hybridization (FISH) are still widely used in many genetic laboratories as the basic method to determine chromosomal condition of DSD patients. Cytogenetic study was conducted on 36 DSD patients in Cell Culture and Cytogenetics Laboratory, Faculty of Medicine Universitas Padjadjaran, Indonesia. Most of the patients referred to the laboratory diagnosed with primary amenorrhea, hypospadias, micropenis, genitalia ambiguity, or congenital adrenal hyperplasia. The study used G-banding technique to acquire complete karyotype and followed by FISH as either confirmation or comparison method. Among 36 patients, G-banding karyotype and FISH results showed that two were diagnosed with 45, X (Turner syndrome); three with 47, XXY (Klinefelter syndrome); five with 46, XX DSD; 22 with 46, XY DSD; and four with 46,XY complete androgen insensitivity syndrome. G-banding karyotype analysis were paired with FISH using X and Y chromosome probe produced similar results. The present analysis showed that FISH is a reliable method to attain a rapid and accurate chromosome analysis result of DSD patients. Nevertheless, conventional karyotype technique is still vital if other condition appeared in DSD patients in order to get more detailed karyotype result which FISH method cannot achieve.

Keywords: chromosome, DSD, FISH, karyotype

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Authors: Somayeh Akrami, Habib Onsori, Elham Tahmassebian

Abstract:

Species of Anemone narcissiflora is belonged to Anemone genus of Ranunculaceae family. This species has two subspecies named narcissiflora and willdenowii which the latest is recorded in Iran in 2010. Some samples of A. narcissiflora is gathered from kuhkamar-zonouz region of East -Azerbaijan province, Iran to study the genetic diversity of the species by using RAPD molecular markers, and estimation of genetic diversity were evaluated with the using 10mer RAPD primers by PCR-RAPD method. 39 polymorphic bands were produced from the six primers used in this technique that the maximum band is related to the RP1 primer, the lowest band is related to the RP7 and the average band for all primers were 6.5 polymorphic bands. Cluster analysis of samples in done by UPGMA method in NTSYSpc 2.02 software. Dendrogram resulting from migrating bands showed that the studied samples can be divided into two groups. The first group includes samples with 1-2 flowers and the second group consists of two sub-groups which the first subgroup consists of samples with 3-5 flowers, and the second subgroup consists of samples with 6-7 flowers. The results of the comparison and analysis of the data obtained from RAPD technique and similarity matrix represents the genetic variation between collected samples. This study shows that RAPD markers can determine the polymorphisms between different genotypes of A. narcissiflora and their hybrids. So RAPD technique can serve as a suitable molecular method to determine the genetic diversity of samples.

Keywords: Anemone narcissiflora, genetic diversity, RAPD-PCR

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Authors: Shahzad Bhatti, M. Aslamkhan, Sana Abbas, Marcella Attimonelli, Hikmet Hakan Aydin, Erica Martinha Silva de Souza,

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Despite being situated at the crossroad of Asia, Pakistan has gained crucial importance because of its pivotal role in subsequent migratory events. To highlight the genetic footprints and to contribute an enigmatic picture of the relative population expansion pattern among four major Pashtun tribes in Khyber Pakhtunkhwa viz., Bangash, Khattak, Mahsuds and Orakzai, the complete mitochondrial control region of 100 Pashtun were analyzed. All Pashtun tribes studied here revealed high genetic diversity; that was comparable to the other Central Asian, Southeast Asian and European populations. The configuration of genetic variation and heterogeneity further unveiled through Multidimensional Scaling, Principal Component Analysis, and phylogenetic analysis. The results revealed that the Pashtun is a composite mosaic of West Eurasian ancestry of numerous geographic origin. They received substantial gene flow during different invasions and have a high element of the Western provenance. The most common haplogroups reported in this study are: South Asian haplogroup M (28%) and R (8%); whereas, West Asians haplogroups are present, albeit in high frequencies (67%) and widespread over all; HV (15%), U (17%), H (9%), J (8%), K (8%), W (4%), N (3%) and T (3%). Herein we linked the unexplored genetic connection between Ashkenazi Jews and Pashtun. The presence of specific haplotypes J1b (4%) and K1a1b1a (5%) point to a genetic connection of Jewish conglomeration with Khattak tribe. This was a result of an ancient genetic influx in the early Neolithic period that led to the formation of a diverse genetic substratum in present day Pashtun.

Keywords: mtDNA haplogroups, control region, Pakistan, KPK, ethnicity

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Authors: M. Vivodík, Ž. Balážová, Z. Gálová

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The aim of this work was to detect genetic variability among the set of 40 castor genotypes using 8 RAPD markers. Amplification of genomic DNA of 40 genotypes, using RAPD analysis, yielded in 66 fragments, with an average of 8.25 polymorphic fragments per primer. Number of amplified fragments ranged from 3 to 13, with the size of amplicons ranging from 100 to 1200 bp. Values of the polymorphic information content (PIC) value ranged from 0.556 to 0.895 with an average of 0.784 and diversity index (DI) value ranged from 0.621 to 0.896 with an average of 0.798. The dendrogram based on hierarchical cluster analysis using UPGMA algorithm was prepared and analyzed genotypes were grouped into two main clusters and only two genotypes could not be distinguished. Knowledge on the genetic diversity of castor can be used for future breeding programs for increased oil production for industrial uses.

Keywords: dendrogram, polymorphism, RAPD technique, Ricinus communis L.

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Authors: Li Zhu, Binghua Wang, Yong Sun

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China is experiencing the rural development process, with the agritourism complex becoming one of the significant modes. Therefore, it is imperative to understand the energy performance of agritourism complex. This study focuses on a typical case of the agritourism complex and simulates the energy consumption performance on condition of the regular energy system. It was found that HVAC took 90% of the whole energy demand range. In order to optimize the energy supply structure, the hierarchical analysis was carried out on the level of architecture with three main factors such as construction situation, building types and energy demand types. Finally, the energy planning suggestion of the agritourism complex was put forward and the relevant results were obtained.

Keywords: agritourism complex, energy planning, energy demand simulation, hierarchical structure model

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Authors: Ryan Tehini

Abstract:

The purpose of this paper is to explore the value of practical experience with Autism Spectrum Disorder (ASD) as a microcosm of mental disorders, in psychology students’ attempt to fully understand it in all of its intricacies. The study follows a one-year program where students of psychology volunteer at a school for Autistic children of ages 3-18. The individual levels of experience with, and theoretical understanding of, ASD varies measurably amongst the volunteers; these volunteers are then intermittently interviewed, observed and surveyed throughout the program in order to determine any decline or growth in their understanding of Autism Spectrum Disorder. A panel of professionals all of whom are active in the world of ASD (headmasters of Autistic schools, psychologists, child development specialists, special needs teachers, parents of autistic children and Occupational Therapists) were used specifically for this study, in order to develop the guideline for understanding ASD that will be used comparatively against the information gained from the volunteers in order to establish the individual results. The paper concludes by illustrating how psychology has a responsibility to the community to understand disorders past what is academic and theoretical, and how increasing student experience with a disorder can aid in a more holistic psychological approach to mental disorders in the future.

Keywords: autism, mental disorders, practical experience, psychology

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Authors: Pratiksha Saxena, Dipti Singh, Neha Khanna

Abstract:

A self-organizing migrating genetic algorithm(C-SOMGA) is developed for animal diet formulation. This paper presents animal diet formulation using stochastic and genetic algorithm. Tri-objective models for cost minimization and shelf life maximization are developed. These objectives are achieved by combination of stochastic programming and C-SOMGA. Stochastic programming is used to introduce nutrient variability for animal diet. Self-organizing migrating genetic algorithm provides exact and quick solution and presents an innovative approach towards successful application of soft computing technique in the area of animal diet formulation.

Keywords: animal feed ration, feed formulation, linear programming, stochastic programming, self-migrating genetic algorithm, C-SOMGA technique, shelf life maximization, cost minimization, nutrient maximization

Procedia PDF Downloads 443