Search results for: autosomal recessive genetic disorder (ARGD)

Authors: Eileen K. Africa, Karel J. van Deventer

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Neuro-typical children develop the motor skills necessary to play, do schoolwork and interact with others. However, this is not observed in children who have learning or behavioural problems. Children with Autism Spectrum Disorder (ASD) are often referred to as clumsy because their body parts do not work well together in a sequence. Physical Activity (PA) has shown to be beneficial to the general population, therefore, providing children with ASD opportunities to take part in PA programmes, could prove to be beneficial in many ways and should be investigated. The purpose of this study was to design a specialised group intervention programme, to attempt to improve gross motor skills of selected children diagnosed with ASD between the ages of eight and 13 years. A government school for ASD learners was recruited to take part in this study, and a sample of convenience (N=7) was selected. Children in the experimental group (n=4) participated in a 12-week group intervention programme twice per week, while the control group continued with their normal daily routine. The Movement Assessment Battery for Children-Second Edition (MABC-2), was administered pre- and post-test to determine the children’s gross motor proficiency and to determine if the group intervention programme had an effect on the gross motor skills of the experimental group. Statistically significant improvements were observed in total motor skill proficiency (p < 0.05), of the experimental group. These results demonstrate the importance of gross motor skills interventions for children diagnosed with ASD. Future research should include more participants to ensure that the results can be generalised.

Keywords: autism spectrum disorder, children, gross motor skills, group intervention programme

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Authors: Majse Lind, Carla Sharp, Salome Vanwoerden

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Narrative identity is the dynamic and evolving story individuals create about their personal pasts, presents, and presumed futures. This storied sense of self develops in adolescence and is crucial for fostering a sense of self-unity and purpose in life. A growing body of work has shown that several characteristics of narrative identity are disturbed in adults suffering from borderline personality disorder (BPD). Very little research, however, has explored the stories told by adolescents with BPD features. Investigating narrative identity early in the lifespan and in relation to personality pathology is crucial; BPD is a developmental disorder with early signs appearing already in adolescence. In the current study, we examine narrative identity (focusing on themes of agency and communion) coded from self-defining memories derived from the child attachment interview in 174 inpatient adolescents (M = 15.12, SD = 1.52) at the time of admission. The adolescents’ social cognition was further assessed on the basis of their reactions to movie scenes (i.e., the MASC movie task). They also completed a trauma checklist and self-reported BPD features at three different time points (i.e., at admission, at discharge, and 6 months after admission). Preliminary results show that adolescents who told stories containing themes of agency and communion evinced better social cognition, and lower emotional abuse on the trauma checklist. In addition, adolescents who disclosed stories containing lower levels of agency and communion demonstrated more BPD symptoms at all three time points, even when controlling for the occurrence of traumatic life events. Surprisingly, social cognitive abilities were not significantly associated with BPD features. These preliminary results underscore the importance of narrative identity as an indicator, and potential cause, of incipient personality pathology. Thus, focusing on diminished themes of narrative-based agency and communion in early adolescence could be crucial in preventing the development of personality pathology over time.

Keywords: borderline personality disorder, inpatient adolescents, narrative identity, follow-ups

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Authors: Belinda Crissman

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Serious mental disorder is greatly overrepresented in prisoners compared to the general community, with consequences for prison management, recidivism and the prisoners themselves. Incarcerated individuals with psychotic disorders experience insufficient detection and treatment and higher rates of suicide in custody. However direct evidence to explain the overrepresentation of individuals with psychosis in prisons is sparse. The current study aimed to use a life course criminology perspective to answer two key questions: 1) What is the temporal relationship between psychosis and offending (does first mental health contact precede first recorded offence, or does the offending precede the mental health diagnosis)? 2) Are there key temporal points or system contacts prior to incarceration that could be identified as opportunities for early intervention? Data from the innovative Queensland Linkage project was used to link individuals with their corrections, health and relevant social service systems to answer these questions.

Keywords: mental disorder, crime, life course criminology, prevention

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Authors: Santosh Kumar Suman, Vinod Kumar Giri

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The goal of this paper is to outline a speed controller of a DC motor by choice of a PID parameters utilizing genetic algorithms (GAs), the DC motor is extensively utilized as a part of numerous applications such as steel plants, electric trains, cranes and a great deal more. DC motor could be represented by a nonlinear model when nonlinearities such as attractive dissemination are considered. To provide effective control, nonlinearities and uncertainties in the model must be taken into account in the control design. The DC motor is considered as third order system. Objective of this paper three type of tuning techniques for PID parameter. In this paper, an independently energized DC motor utilizing MATLAB displaying, has been outlined whose velocity might be examined utilizing the Proportional, Integral, Derivative (KP, KI , KD) addition of the PID controller. Since, established controllers PID are neglecting to control the drive when weight parameters be likewise changed. The principle point of this paper is to dissect the execution of optimization techniques viz. The Genetic Algorithm (GA) for improve PID controllers parameters for velocity control of DC motor and list their points of interest over the traditional tuning strategies. The outcomes got from GA calculations were contrasted and that got from traditional technique. It was found that the optimization techniques beat customary tuning practices of ordinary PID controllers.

Keywords: DC motor, PID controller, optimization techniques, genetic algorithm (GA), objective function, IAE

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Authors: Agostinho Antunes

Abstract:

The completion of the human genome sequencing in 2003 opened a new perspective into the importance of whole genome sequencing projects, and currently multiple species are having their genomes completed sequenced, from simple organisms, such as bacteria, to more complex taxa, such as mammals. This voluminous sequencing data generated across multiple organisms provides also the framework to better understand the genetic makeup of such species and related ones, allowing to explore the genetic changes underlining the evolution of diverse phenotypic traits. Here, recent results from our group retrieved from comparative evolutionary genomic analyses of selected marine animal species will be considered to exemplify how gene novelty and gene enhancement by positive selection might have been determinant in the success of adaptive radiations into diverse habitats and lifestyles.

Keywords: comparative genomics, adaptive evolution, bioinformatics, phylogenetics, genome mining

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Authors: Fred N. H. Parker, Nicola T. Fear, S. A. M. Stevelink, L. Rafferty

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Purpose Auditory problems, such as hearing loss and tinnitus, have been associated with mental health problems and alcohol misuse in the UK general population and in the US Armed Forces; however, few studies have examined these associations within the UK Armed Forces. The present study examined the association between auditory problems and probable common mental disorders, post-traumatic stress disorder and alcohol misuse. Methods 5474 serving and ex-service personnel from the UK Armed Forces were examined, selected from those who responded to phase two (data collection 2007–09) and phase three (2014–16) of a military cohort study. Multivariable logistic regression was used to examine the association between auditory problems at phase two and mental health problems at phase three. Results 9.7% of participants reported ever experiencing hearing problems alone, 7.9% reported tinnitus within the last month alone, and 7.8% reported hearing problems with tinnitus. After adjustment, hearing problems with tinnitus at phase two was associated with increased odds of probable common mental disorders (AOR = 1.50, 95% CI 1.09–2.08), post-traumatic stress disorder (AOR = 2.30, 95% CI 1.41–3.76), and alcohol misuse (AOR = 1.94, 95% CI 1.28–2.96) at phase three. Tinnitus alone was associated with probable post-traumatic stress disorder (AOR = 1.80, 95% CI 1.03–3.15); however, hearing problems alone were not associated with any outcomes of interest. Conclusions The association between auditory problems and mental health problems emphasizes the importance of the prevention of auditory problems in the Armed Forces: through enhanced audiometric screening, improved hearing protection equipment, and greater levels of utilization of such equipment.

Keywords: armed forces, hearing problems, tinnitus, mental health, alcohol misuse

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Authors: Ya-Ju Ju, Li-Chen Yang, Yi-Chun Du, Rong-Ju Cherng

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Introduction: It is estimated that 5-6% of school-aged children may be diagnosed to have developmental coordination disorder (DCD). Children with DCD are characterized with motor skill difficulty which cannot be explained by any medical or intellectual reasons. Such motor difficulties limit children’s participation to sports activity, further affect their physical fitness, cardiopulmonary function and balance, and may lead to obesity. The purpose of the project was to develop an exergaming system for children with DCD aiming to improve their physical fitness, cardiopulmonary function and balance ability. Methods: This study took five steps to build up the system: system planning, tasks selection, tasks programming, system integration and usability test. The system basically adopted virtual reality technique to integrate self-developed training programs. The training programs were developed to brainstorm among team members and after literature review. The selected tasks for training in the system were a combination of fundamental movement tor skill. Results and Discussion: Based on the theory of motor development, we design the training task from easy ones to hard ones, from single tasks to dual tasks. The tasks included walking, sit to stand, jumping, kicking, weight shifting, side jumping and their combination. Preliminary study showed that the tasks presented an order of development. Further study is needed to examine its effect on motor skill and cardiovascular fitness in children with DCD.

Keywords: virtual reality, virtual reality system, developmental coordination disorder, children

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Authors: Rithvik Reddy Adapa, Xin Wang

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Phasor Measurement Units (PMUs) are very sophisticated measuring devices that find amplitude, phase and frequency of various voltages and currents in a power system. Particle filter is a state estimation technique that uses Bayesian inference. Particle filters are widely used in pose estimation and indoor navigation and are very reliable. This paper studies and compares four different particle filters as PMUs namely, generic particle filter (GPF), genetic algorithm particle filter (GAPF), particle swarm optimization particle filter (PSOPF) and adaptive particle filter (APF). Two different test signals are used to test the performance of the filters in terms of responsiveness and correctness of the estimates.

Keywords: phasor measurement unit, particle filter, genetic algorithm, particle swarm optimisation, state estimation

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Authors: Ru-Yin Yang, Chi Wu, Cheng-Yu Tsai, Yin-Tzu Lin, Wen-Te Liu

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Background: Sleep breathing disorder (SDB) is a condition demonstrated by recurrent episodes of the airway obstruction leading to intermittent hypoxia and quality fragmentation during sleep time. However, the procedures for SDB severity examination remain complicated and costly. Objective: The objective of this study is to establish a simplified examination method for SDB by the respiratory impendence pattern sensor combining the signal processing and machine learning model. Methodologies: We records heart rate variability by the electrocardiogram and respiratory pattern by impendence. After the polysomnography (PSG) been done with the diagnosis of SDB by the apnea and hypopnea index (AHI), we calculate the episodes with the absence of flow and arousal index (AI) from device record. Subjects were divided into training and testing groups. Neuron network was used to establish a prediction model to classify the severity of the SDB by the AI, episodes, and body profiles. The performance was evaluated by classification in the testing group compared with PSG. Results: In this study, we enrolled 66 subjects (Male/Female: 37/29; Age:49.9±13.2) with the diagnosis of SDB in a sleep center in Taipei city, Taiwan, from 2015 to 2016. The accuracy from the confusion matrix on the test group by NN is 71.94 %. Conclusion: Based on the models, we established a prediction model for SDB by means of the wearable sensor. With more cases incoming and training, this system may be used to rapidly and automatically screen the risk of SDB in the future.

Keywords: sleep breathing disorder, apnea and hypopnea index, body parameters, neuron network

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Authors: Pedro Felgueiras, Ana Miguel, Nélson Almeida, Raquel Silva

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Objective: Through the study of a clinical case of delusional somatic disorder secondary to phantogeusia, we aim to highlight the importance of considering psychosomatic conditions in differential diagnosis, as well as to emphasize the complexity of its comprehension, treatment, and respective impact on patients’ functioning. Methods: Bearing this in mind, we conducted a critical analysis of a case series based on patient observations, clinical data, and complementary diagnostic methods, as well as a non-systematic review of the literature on the subject. Results: A 61-year-old female patient with no history of psychiatric conditions. Family psychiatric history of mood disorder (depression), with psychotic features found in her mother. Medical history of many comorbidities affecting different organ systems (endocrine, gastrointestinal, genitourinary, ophthalmological). Documented neuroticism traits of personality. The patient’s family described a persistent concern about several physical symptoms across her life, with a continuous effort to obtain explanations about any sensation out of her normal perception. Since being subjected to endoscopy in 2018, she started complaints of persistent phantogeusia (acid taste) and developed excessive thoughts, feelings, and behaviors associated with this somatic symptom. The patient was evaluated by several medical specialties, and an extensive panel of medical exams was carried out, excluding any disease. Besides all the investigation and with no evidence of disease signs, acute anxiety, time, and energy dispended to this symptom culminated in severe psychosocial impairment. The patient was admitted to a psychiatric ward for investigation and treatment of this clinical picture, leading to the diagnosis of the delusional somatic disorder. In order to exclude the acute organic etiology of this psychotic disorder, an analytic panel was carried out with no abnormal results. In the context of a psychotic clinical picture, a CT scan was performed, which revealed a right cortical vascular lesion. Neuropsychological evaluation was made, with the description of cognitive functioning being globally normative. During treatment with an antipsychotic (pimozide), a complete remission of the somatic delusion was associated with the disappearance of gustative perception disturbance. In follow-up, a relapse of gustative sensation was documented, and her thoughts and speech were dominated by concerns about multiple somatic symptoms. Conclusion: In terms of abnormal bodily sensations, the oral cavity is one of the frequent sites of delusional disorder. Patients with these gustatory perception distortions complain about unusual sensations without corresponding abnormal findings in the oral area. Its pathophysiology has not been fully elucidated yet. In terms of its comprehensive psychopathology, this case was hypothesized as a paranoid development of a delusional somatic disorder triggered by a post-invasive procedure phantogeusia (which is described as a possible side effect of an endoscopy) in a patient with an anankastic personality. This case presents interesting psychopathology, reinforcing the complexity of psychosomatic disorders in terms of their etiopathogenesis, clinical treatment, and long-term prognosis.

Keywords: psychosomatics, delusional somatic disorder, phantogeusia, paranoid development

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Authors: Michael Aupetit, Mahmoud Al-ismail, Khaled Mohamed

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Cancer is a major public health problem all over the world. Breast cancer has the highest incidence rate over all cancers for women in Qatar making its study a top priority of the country. Human cancer is a dynamic disease that develops over an extended period through the accumulation of a series of genetic alterations. A Darwinian process drives the tumor cells toward higher malignancy growing the branches of a progression tree in the space of genes expression. Although it is not possible to track these genetic alterations dynamically for one patient, it is possible to reconstruct the progression tree from the aggregation of thousands of tumor cells’ genetic profiles from thousands of different patients at different stages of the disease. Analyzing the progression tree is a way to detect pivotal molecular events that drive the malignant evolution and to provide a guide for the development of cancer diagnostics, prognostics and targeted therapeutics. In this work we present the development of a Visual Analytic web platform CanVis enabling users to upload gene-expression data and analyze their progression tree. The server computes the progression tree based on state-of-the-art techniques and allows an interactive visual exploration of this tree and the gene-expression data along its branching structure helping to discover potential driver genes.

Keywords: breast cancer, progression tree, visual analytics, web platform

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Authors: Yu-Chi Chou

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The purpose of this study was to establish a logical path of an instructional model of empathy and social regulation, providing feasibility evidence on the model implementation in students with autism spectrum disorder (ASD). This newly developed Emotional Bug-Out Bag (BoB) curriculum was designed to enhance the empathy and socially shared regulation of students with ASD. The BoB model encompassed three instructional phases of basic theory lessons (BTL), action plan practices (APP), and final theory practices (FTP) during implementation. Besides, a learning flow (teacher-directed instruction, student self-directed problem-solving, group-based task completion, group-based reflection) was infused into the progress of instructional phases to deliberately promote the social regulatory process in group-working activities. A total of 23 junior high school students with ASD were implemented with the BoB curriculum. To examine the logical path for model implementation, data was collected from the participating students’ self-report scores on the learning nodes and understanding questions. Path analysis using structural equation modeling (SEM) was utilized for analyzing scores on 10 learning nodes and 41 understanding questions through the three phases of the BoB model. Results showed (a) all participants progressed throughout the implementation of the BoB model, and (b) the models of learning nodes and phases were positive and significant as expected, confirming the hypothesized logic path of this curriculum.

Keywords: autism spectrum disorder, empathy, regulation, socially shared regulation

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Authors: Mohammad Ahangari

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Schizophrenia is a psychiatric disorder with symptoms that include cognitive deficits and nicotine has been suggested to have an effect on cognition. In recent years, the advents of Genome-Wide Association Studies(GWAS) has evolved our understanding about the genetic causes of complex disorders such as schizophrenia and studying the role of genome-wide significant genes could potentially lead to the development of new therapeutic agents for treatment of cognitive deficits in schizophrenia. The current study identified six Single Nucleotide Polymorphisms (SNP) from schizophrenia and smoking GWAS that are located on or in close proximity to the nicotinic receptor gene cluster (CHRN) and studied their association with cognition in an Irish sample of 1297 cases and controls using linear regression analysis. Further on, the interaction between CHRN gene cluster and Dopamine receptor D2 gene (DRD2) during working memory was investigated. The effect of these polymorphisms on nicotinic and dopaminergic neurotransmission, which is disrupted in schizophrenia, have been characterized in terms of their effects on memory, attention, social cognition and IQ as measured by a neuropsychological test battery and significant effects in two polymorphisms were found across global IQ domain of the test battery.

Keywords: cognition, dopamine, GWAS, nicotine, schizophrenia, SNPs

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Authors: Hamed K. Esfahani, Bithin Datta

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Transport of reactive chemical contaminant species in groundwater aquifers is a complex and highly non-linear physical and geochemical process especially for real life scenarios. Simulating this transport process involves solving complex nonlinear equations and generally requires huge computational time for a given aquifer study area. Development of optimal remediation strategies in aquifers may require repeated solution of such complex numerical simulation models. To overcome this computational limitation and improve the computational feasibility of large number of repeated simulations, Genetic Programming based trained surrogate models are developed to approximately simulate such complex transport processes. Transport process of acid mine drainage, a hazardous pollutant is first simulated using a numerical simulated model: HYDROGEOCHEM 5.0 for a contaminated aquifer in a historic mine site. Simulation model solution results for an illustrative contaminated aquifer site is then approximated by training and testing a Genetic Programming (GP) based surrogate model. Performance evaluation of the ensemble GP models as surrogate models for the reactive species transport in groundwater demonstrates the feasibility of its use and the associated computational advantages. The results show the efficiency and feasibility of using ensemble GP surrogate models as approximate simulators of complex hydrogeologic and geochemical processes in a contaminated groundwater aquifer incorporating uncertainties in historic mine site.

Keywords: geochemical transport simulation, acid mine drainage, surrogate models, ensemble genetic programming, contaminated aquifers, mine sites

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Authors: R. N. Jay A. Ablog, M. N. Dyanne R. Del Carmen, Roma Rose A. Dela Cruz, Joselle Dara M. Estrada, Luke Clifferson M. Gagarin, Florence T. Lang-ay, Ma. Dayanara O. Mariñas, Maria Christina S. Nepa, Jahraine Chyle B. Ocampo, Mark Reynie Renz V. Silva, Jenny Lyn L. Soriano, Loreal Cloe M. Suva, Jackelyn R. Torres

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Background: To date, there is dearth of literature as to the effect of relaxation techniques in lowering the stress level of mothers of children with autism spectrum disorder (ASD). Aim: To investigate the effectiveness of 4-week relaxation techniques in stress level reduction of mothers of children with ASD. Methods: Quasi experimental design. It included 25 mothers (10-experimental, 15-control) who were chosen via purposive sampling. The mothers were recruited in the different SPED centers in Baguio City and La Trinidad and in the community. Statistics used were T-test and Related T-Test. Results: The overall weighted mean score after 4-week training is 2.3, indicating that the relaxation techniques introduced were moderately effective in lowering stress level. Statistical analysis (T-test; CV=4.51>TV=2.26) shown a significant difference in the stress level reduction of mothers in the experimental group pre and post interventions. There is also a significant difference in the stress level reduction in the control and the experimental group (Related T-test; CV=2.08 >TV=2.07). The relaxation techniques introduced were favorable, cost-effective, and easy to perform interventions to decrease stress level.

Keywords: relaxation techniques, mindful eating, progressive muscle relaxation, breathing exercise, autism spectrum disorder

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Authors: A. Mansouri, F. Krim

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This paper presents two techniques for DC motor parameters identification. We propose a numerical method using the adaptive extensive recursive least squares (AERLS) algorithm for real time parameters estimation. This algorithm, based on minimization of quadratic criterion, is realized in simulation for parameters identification of DC motor autoregressive moving average with extra inputs (ARMAX). As advanced technique, we use genetic algorithms (GA) identification with biased estimation for high dynamic performance speed regulation. DC motors are extensively used in variable speed drives, for robot and solar panel trajectory control. GA effectiveness is derived through comparison of the two approaches.

Keywords: ARMAX model, DC motor, AERLS, GA, optimization, parameter identification, PID speed regulation

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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: Benjamin A. Ha, Marco Morselli, Xinhui Paige Zhang, Elizabeth A. C. Heath-Heckman, Jonathan B. Puritz, David K. Jacobs

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Next-generation sequencing has enhanced the ability to acquire massive amounts of sequence data to address classic population genetic questions for non-model organisms. Targeted approaches allow for cost effective or more precise analyses of relevant sequences; although, many such techniques require a known genome and it can be costly to purchase probes from a company. This is challenging for non-model organisms with no published genome and can be expensive for large population genetic studies. Expressed exome capture sequencing (EecSeq) synthesizes probes in the lab from expressed mRNA, which is used to capture and sequence the coding regions of genomic DNA from a pooled suite of samples. A normalization step produces probes to recover transcripts from a wide range of expression levels. This approach offers low cost recovery of a broad range of genes in the genome. This research project expands on EecSeq to investigate if mRNA from one taxon may be used to capture relevant sequences from a series of increasingly less closely related taxa. For this purpose, we propose to use the endangered Northern Tidewater goby, Eucyclogobius newberryi, a non-model organism that inhabits California coastal lagoons. mRNA will be extracted from E. newberryi to create probes and capture exomes from eight other taxa, including the more at-risk Southern Tidewater goby, E. kristinae, and more divergent species. Captured exomes will be sequenced, analyzed bioinformatically and phylogenetically, then compared to previously generated phylogenies across this group of gobies. This will provide an assessment of the utility of the technique in cross-species studies and for analyzing low genetic variation within species as is the case for E. kristinae. This method has potential applications to provide economical ways to expand population genetic and evolutionary biology studies for non-model organisms.

Keywords: coastal lagoons, endangered species, non-model organism, target capture method

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Authors: Atefeh Esmailnejad, Gholam Reza Nikbakht Brujeni

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The major histocompatibility complex (MHC) is the best-characterized genetic region associated with susceptibility and/or resistance to a wide range of infectious diseases, autoimmune diseases and immune responses to vaccines. It has been demonstrated that there is an association between the MHC and resistance to Marek disease, Newcastle disease, Rous sarcoma tumor, Avian leucosis, Fowl cholera, Salmonellosis and Pasteurellosis in chicken. The present study evaluated the MHC polymorphism and its association with antibody response to Newcastle (ND) vaccine in Iranian native chickens. The MHC polymorphism was investigated using LEI0258 microsatellite locus by PCR-based fragment analysis. LEI0258 microsatellite marker is a genetic indicator for MHC, which is located on microchromosome 16 and strongly associated with serologically defined MHC haplotypes. Antibody titer against ND vaccine was measured by Haemaglutination Inhibition (HI) assay. Statistical analysis was performed using SPSS software (version 21). Total of 13 LEI0258 microsatellite alleles were identified in 72 samples which indicated a high genetic diversity in the population. The association study revealed a significant influence of MHC alleles on immune responses to Newcastle vaccine. 311 and 313 bp alleles were significantly associated with elevated immune responses to Newcastle vaccine (p<0.05). These results would be applicable in designing and improving the populations under selective breeding.

Keywords: chicken, LEI0258, MHC, Newcastle vaccine

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Authors: Murray Anderson, Galina Freed, Karli Jahn

Abstract:

Trauma is increasingly recognized as an important construct that has health implications for those who struggle with various mental health issues. For those individuals who meet the criteria for a diagnosis of hoarding disorder (HD), many have experienced some form of trauma. Further, some of the therapeutic interventions for those with HD can further perpetuate or magnify the experience of trauma. Therefore, the aim of this scoping review is to identify and document the nature and extent of research evidence related to trauma as it connects with HD. This review was guided by the questions, ‘How can our understanding of the trauma cycle help us to better appreciate the experiences of individuals who hoard, and how will a trauma informed lens inform the interventions for hoarding disorder? A comprehensive literature search was performed to identify original studies that contained the words “hoarding” and “trauma.” PsychINFO”,''EBSCO host,” “CINAHL” and “PubMed” were searched between January 2005 and April 2021. Articles were screened by three reviewers. Data extracted included publication date, demographics, study design, type of analysis, and noted connections between hoarding and trauma. Of the 329 articles, all duplicates, articles on hoardings of animals, articles not in English, and those without full-text availability were removed. Five categories were found in the remaining 45 articles, including (a) traumatic and stressful life events; (b) the link between posttraumatic stress disorder, trauma, and hoarding; (c) the relationships between different comorbidities, trauma, and hoarding; (d) the lack of early emotional expression and other forms of parental deprivation; and (e) the role of attachment. Lastly, the literature explains how the links between hoarding and trauma are difficult to study due to the highly stigmatized identities with this population. The review provided strong support for the connections between the experience of trauma and HD. What is missing from the literature is the use of a trauma-informed lens to better account for the ways in which hoarding disorder is understood. Other missing pieces in the literature are the potential uses of a trauma-informed lens to enhance the therapeutic process, to understand and reduce treatment attrition, and to improve treatment outcomes. The application of a trauma informed lens could improve our understanding of effective interactions among clients, families, and communities and improve the education around hoarding-related matters. Exploring the connections between trauma and HD can improve therapeutic delivery and destigmatize the experience of dealing with clutter and hoarding concerns. This awareness can also provide health care professionals with both the language and skills to liberate them from a reductionist view on HD.

Keywords: hoarding, attachment, parental deprivation, trauma

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Authors: Agostinho Antunes

Abstract:

The completion of the human genome sequencing in 2003 opened a new perspective into the importance of whole genome sequencing projects, and currently multiple species are having their genomes completed sequenced, from simple organisms, such as bacteria, to more complex taxa, such as mammals. This voluminous sequencing data generated across multiple organisms provides also the framework to better understand the genetic makeup of such species and related ones, allowing to explore the genetic changes underlining the evolution of diverse phenotypic traits. Here, recent results from our group retrieved from comparative evolutionary genomic analyses of selected marine animal species will be considered to exemplify how gene novelty and gene enhancement by positive selection might have been determinant in the success of adaptive radiations into diverse habitats and lifestyles.

Keywords: marine genomics, evolutionary bioinformatics, human genome sequencing, genomic analyses

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Authors: Nyimas Annissa Mutiara Andini

Abstract:

There are 325,000 children younger than age 15 in the U.S. have epilepsy. In Indonesia, 40% of 3,5 millions cases of epilepsy happens in children. The most common type of epilepsy, which affects 6 out of 10 people with the disorder, is called idiopathic epilepsy and which has no identifiable cause. One of the most commonly used medications in the treatment of this childhood epilepsy is sodium valproate. Administration of sodium valproat in children has a problem to fail. Nearly 60% of pediatric patients known were mildly, moderately, or severely non-adherent with therapy during the first six months of treatment. Many parents or caregiver took far less medication than prescribed, and the treatment-adherence pattern for the majority of patients was established during the first month of treatment. 42% of the patients were almost always given their medications as prescribed but 13% had very poor adherence even in the early weeks and months of treatment. About 7% of patients initially gave the medication correctly 90% of the time, but adherence dropped to around 20% within six months of starting treatment. Over the six months of observation, the total missing of administration is about four out of 14 doses in any given week. This fail can cause the epilepsy to relapse. Whereas, current reported epilepsy disorder were significantly more likely than those never diagnosed to experience depression (8% vs 2%), anxiety (17% vs 3%), attention-deficit/hyperactivity disorder (23% vs 6%), developmental delay (51% vs 3%), autism/autism spectrum disorder (16% vs 1%), and headaches (14% vs 5%) (all P< 0.05). They had a greater risk of limitation in the ability to do things (relative risk: 9.22; 95% CI: 7.56–11.24), repeating a school grade (relative risk: 2.59; CI: 1.52–4.40), and potentially having unmet medical and mental health needs. In the other side, technology can help to make our life easier. One of the technology, that we can use is a mobile application. A mobile app is a software program we can download and access directly using our phone. Indonesians are highly mobile centric. They use, on average, 6.7 applications over a 30 day period. This paper is aimed to describe an application that could help to control a sodium valproat administration in children; we call it as D-Epi app. D-Epi app is a downloadable application that can help parents or caregiver alert by a timer-related application to warn whether it is the time to administer the sodium valproat. It works not only as a standard alarm, but also inform important information about the drug and emergency stuffs to do to children with epilepsy. This application could help parents and caregiver to take care a child with epilepsy in Indonesia.

Keywords: application, children, D-Epi, epilepsy

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Authors: Fahima Djefaflia, M. Loutfi Benkhedir

Abstract:

The aim of this work was to development and characterisation of iron oxide thin films by spray pyrolysis technique. Influences of deposition parameters pile temperature on structural and optical properties have been studied Thin films are analysed by various techniques of materials. The structural characterization of films by analysis of spectra of X-ray diffraction showed that the films prepared at T=350,400,450 are crystalline and amorphous at T=300C. For particular condition, two phases hematiteFe2O3 and magnetite Fe3O4 have been observed.The UV-Visible spectrophotometer of this films confirms that it is possible to obtain films with a transmittance of about 15-30% in the visible range. In addition, this analysis allowed us to determine the optical gap and disorder of films. We conclude that the increase in temperature is accompanied by a reduction in the optical gap with increasing in disorder. An ab initio calculation for this phase shows that the results are in good agreement with the experimental results.

Keywords: spray pyrolysis technique, iron oxide, ab initio calculation, optical properties

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Authors: Wen Huei Chou, Yi-Ting Chen

Abstract:

Individuals with Autism Spectrum Disorder (ASD) often struggle with social interactions and communication. It is challenging for them to understand social cues such as facial expressions, body language, and tone of voice in social settings, leading to social conflicts and misunderstandings. Over time, feelings of frustration and anxiety can make them reluctant to engage in social situations and worsen their communication barriers. This study focused on children with autism who also experience social anxiety. Through focus group interviews with parents of children with autism and occupational therapists, it explores the reasons and scenarios behind the development of social anxiety in these children. Social scenario stories and interactive applications tailored for children with autism were designed and developed. In addition, working with the educational robots, coping strategies for various emotional situations were elaborated on, and children were helped to understand their emotions.

Keywords: autism spectrum disorder, social anxiety, robot, social scenario story, interactive applications

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Authors: Xiao Zhang, Wensheng Xiao, Junguo Cui, Hongmin Wang

Abstract:

Submersible permanent magnet linear synchronous motors (SPMLSMs) are electromagnetic devices, which can directly drive plunger pump to obtain the crude oil. Those motors have been gradually applied in oil fields due to high thrust force density and high efficiency. Since the force performance closely depends on the concrete structural parameters, the seven different structural parameters are investigated in detail. This paper presents an optimum design of an SPMLSM to minimize the detent force and maximize the thrust by using design of experiment (DOE) and genetic algorithm (GA). The three significant structural parameters (air-gap length, slot width, pole-arc coefficient) are separately screened using 27 1/16 fractional factorial design (FFD) to investigate the significant effect of seven parameters used in this research on the force performance. Response surface methodology (RSM) is well adapted to make analytical model of thrust and detent force with constraints of corresponding significant parameters and enable objective function to be easily created, respectively. GA is performed as a searching tool to search for the Pareto-optimal solutions. By finite element analysis, the proposed PMLSM shows merits in improving thrust and reducing the detent force dramatically.

Keywords: optimization, force performance, design of experiment (DOE), genetic algorithm (GA)

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Authors: Toshinori Nawata

Abstract:

In this paper a nonlinear feedback control called augmented automatic choosing control (AACC) for a class of nonlinear systems with constrained input is presented. When designing the control, a constant term which arises from linearization of a given nonlinear system is treated as a coefficient of a stable zero dynamics. Parameters of the control are suboptimally selected by maximizing the stable region in the sense of Lyapunov with the aid of a genetic algorithm. This approach is applied to a field excitation control problem of power system to demonstrate the splendidness of the AACC. Simulation results show that the new controller can improve performance remarkably well.

Keywords: augmented automatic choosing control, nonlinear control, genetic algorithm, zero dynamics

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Authors: Boris Ershov

Abstract:

Depression is the most common mood disorder experienced by patients who have sustained a traumatic brain injury (TBI) and is associated with poorer cognitive functional outcomes. However, in some cases, similar cognitive impairments can also be observed in depression. There is not enough information about the features of the cognitive deficit in patients with TBI in relation to patients with depression. TBI patients without depressive symptoms (TBInD, n25), TBI patients with depressive symptoms (TBID, n31), and 28 patients with bipolar II disorder (BP) were included in the study. There were no significant differences in participants in respect to age, handedness and educational level. The patients clinical status was determined by using Montgomery–Asberg Depression Rating Scale (MADRS). All participants completed a cognitive battery (The Brief Assessment of Cognition in Affective Disorders (BAC-A)). Additionally, the Rey–Osterrieth Complex Figure (ROCF) was used to assess visuospatial construction abilities and visual memory, as well as planning and organizational skills. Compared to BP, TBInD and TBID showed a significant impairments in visuomotor abilities, verbal and visual memory. There were no significant differences between BP and TBID groups in working memory, speed of information processing, problem solving. Interference effect (cognitive inhibition) was significantly greater in TBInD and TBID compared to BP. Memory bias towards mood-related information in BP and TBID was greater in comparison with TBInD. These results suggest that depressive symptoms are associated with impairments some executive functions in combination at decrease of speed of information processing.

Keywords: bipolar II disorder, depression, neurocognitive deficits, traumatic brain injury

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Authors: Surekha Tony, Roshan Mevada

Abstract:

Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease resulting in recurrent infections, eczema, and microthrombocytopenia. In its classical form, significant combined immune deficiency, autoimmune complications, and risk of hematological malignancy necessitate early correction, preferably before 2 years of age, with hematopoietic stem cell transplant (HSCT) or gene therapy. Clinical features and severity are varied, making the diagnosis difficult in milder cases. We report an Omani boy diagnosed in early infancy with WAS based on clinical presentation and confirmed by genetic diagnosis with cure by HSCT from an HLA-identical sibling donor.

Keywords: genetic diagnosis, hematopoietic stem cell transplant, infant, Wiskott-Aldrich syndrome

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Authors: Rozan El-Khateeb

Abstract:

This literature review examines the effectiveness of therapy programs that utilize play as an intervention for reducing symptoms associated with Autism Spectrum Disorder (ASD). Play-based therapy approaches provide a child-centered and developmentally appropriate framework to address the core symptoms of ASD, including social communication deficits, restricted and repetitive behaviors, and sensory sensitivities. The review explores various play-based therapy strategies and their impact on improving social skills, communication abilities, adaptive behaviors, and overall functioning in individuals with ASD. The findings suggest that play-based therapy programs hold promise as effective interventions for reducing symptoms and enhancing the quality of life for individuals with ASD. However, further research is necessary to establish standardized protocols, identify optimal dosage and duration, and evaluate long-term outcomes.

Keywords: autism, ABA, play, NET, systematic review

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Authors: Sinead Morrison, Ann Swillen, Therese Van Amelsvoort, Samuel Chawner, Elfi Vergaelen, Michael Owen, Marianne Van Den Bree

Abstract:

22q11.2 Deletion Syndrome (22q11.2DS) is caused by the deletion of approximately 60 genes on chromosome 22 and is associated with high rates of neurodevelopmental disorders such as Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorders (ASD). The presentation of these disorders in 22q11.2DS is reported to be comparable to idiopathic forms and therefore presents a valuable model for understanding mechanisms of neurodevelopmental disorders. Cognitive deficits are thought to be a core feature of neurodevelopmental disorders, and possibly manifest in behavioural and emotional problems. There have been mixed findings in 22q11.2DS on whether the presence of ADHD or ASD is associated with greater cognitive deficits. Furthermore, the influence of developmental stage has never been taken into account. The aim was therefore to examine whether the presence of ADHD or ASD was associated with cognitive deficits in childhood and/or adolescence in 22q11.2DS. We conducted the largest study to date of this kind in 22q11.2DS. The same battery of tasks measuring processing speed, attention and spatial working memory were completed by 135 participants with 22q11.2DS. Wechsler IQ tests were completed, yielding Full Scale (FSIQ), Verbal (VIQ) and Performance IQ (PIQ). Age-standardised difference scores were produced for each participant. Developmental stages were defined as children (6-10 years) and adolescents (10-18 years). ADHD diagnosis was ascertained from a semi-structured interview with a parent. ASD status was ascertained from a questionnaire completed by a parent. Interaction and main effects of cognitive performance of those with or without a diagnosis of ADHD or ASD in childhood or adolescence were conducted with 2x2 ANOVA. Significant interactions were followed up with t-tests of simple effects. Adolescents with ASD displayed greater deficits in all measures (processing speed, p = 0.022; sustained attention, p = 0.016; working memory, p = 0.006) than adolescents without ASD; there was no difference between children with and without ASD. There were no significant differences on IQ measures. Both children and adolescents with ADHD displayed greater deficits on sustained attention (p = 0.002) than those without ADHD. There were no significant differences on any other measures for ADHD. Magnitude of cognitive deficit in individuals with 22q11.2DS varied by cognitive domain, developmental stage and presence of neurodevelopmental disorder. Adolescents with 22q11.2DS and ASD showed greater deficits on all measures, which suggests there may be a sensitive period in childhood to acquire these domains, or reflect increasing social and academic demands in adolescence. The finding of poorer sustained attention in children and adolescents with ADHD supports previous research and suggests a specific deficit which can be separated from processing speed and working memory. This research provides unique insights into the association of ASD and ADHD with cognitive deficits in a group at high genomic risk of neurodevelopmental disorders.

Keywords: 22q11.2 deletion syndrome, attention deficit hyperactivity disorder, autism spectrum disorder, cognitive development

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