Search results for: complex genetic disorder

Authors: Ting Ye, Nhan Phan-Thien, Chwee Teck Lim, Lina Peng, Huixin Shi

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In biofluid flow systems, often the flow problems of fluids of complex structures, such as the flow of red blood cells (RBCs) through complex capillary vessels, need to be considered. In this paper, we aim to apply a particle-based method, Smoothed Dissipative Particle Dynamics (SDPD), to simulate the motion and deformation of RBCs in complex micro-tubes. We first present the theoretical models, including SDPD model, RBC-fluid interaction model, RBC deformation model, RBC aggregation model, and boundary treatment model. After that, we show the verification and validation of these models, by comparing our numerical results with the theoretical, experimental and previously-published numerical results. Finally, we provide some simulation cases, such as the motion and deformation of RBCs in rectangular, cylinder, curved, bifurcated, and constricted micro-tubes, respectively.

Keywords: aggregation, deformation, red blood cell, smoothed dissipative particle dynamics

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Authors: Fakhrosadat Sajjadian

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In the USA, about 5% of women diagnosed with breast cancer annually are affected by Inflammatory Breast Cancer (IBC), which is a highly aggressive type of Locally Advanced Breast Cancer (LABC). It is a type of LABC that is clinically and pathologically different, known for its rapid growth, invasiveness, and ability to promote the growth of blood vessels. Almost all women are found to have lymph nodes affected upon diagnosis, while around 36% show obvious distant metastases. Even with the latest improvements in multimodality therapies, the outlook for patients with IBC remains bleak, as the average disease-free survival time is less than 2.5 years. Recent research on the genetic factors responsible for the IBC phenotype has resulted in the discovery of genes that play a role in the advancement of this illness. The development of primary human cell lines and animal models has assisted in this research. These advancements offer new possibilities for future actions in identifying and treating IBC.

Keywords: breast cancer, inflammation, diagnosis, IBC, LABC

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Authors: H. Yousefnia, S. Zolghadri

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An early diagnosis of bone metastases is very important for providing a profound decision on a subsequent therapy. A prerequisite for the clinical application of new diagnostic radiopharmaceutical is the measurement of organ radiation exposure dose from biodistribution data in animals. In this study, the dosimetric studies of a novel agent for SPECT-imaging of bone methastases, 111In-(4-{[(bis(phosphonomethyl))carbamoyl]methyl}-7,10-bis(carboxymethyl)-1,4,7,10-tetraazacyclododec-1-yl) acetic acid (111In-BPAMD) complex, have been estimated in human organs based on mice data. The radiolabeled complex was prepared with high radiochemical purity at the optimal conditions. Biodistribution studies of the complex were investigated in male Syrian mice at selected times after injection (2, 4, 24 and 48 h). The human absorbed dose estimation of the complex was performed based on mice data by the radiation absorbed dose assessment resource (RADAR) method. 111In-BPAMD complex was prepared with high radiochemical purity >95% (ITLC) and specific activities of 2.85 TBq/mmol. Total body effective absorbed dose for 111In-BPAMD was 0.205 mSv/MBq. This value is comparable to the other 111In clinically used complexes. The results show that the dose to critical organs the complex is well within the acceptable considered range for diagnostic nuclear medicine procedures. Generally, 111In-BPAMD has interesting characteristics and can be considered as a viable agent for SPECT-imaging of the bone metastases in the near future.

Keywords: In-111, BPAMD, absorbed dose, RADAR

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Authors: Prasanna Haddela

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Document analysis is a well matured yet still active research field, partly as a result of the intricate nature of building computational tools but also due to the inherent problems arising from the variety and complexity of human languages. Breaking down language barriers is vital in enabling access to a number of recent technologies. This paper investigates the application of document classification methods to new Sinhalese datasets. This language is geographically isolated and rich with many of its own unique features. We will examine the interpretability of the classification models with a particular focus on the use of evolved Lucene search queries generated using a Genetic Algorithm (GA) as a method of document classification. We will compare the accuracy and interpretability of these search queries with other popular classifiers. The results are promising and are roughly in line with previous work on English language datasets.

Keywords: evolved search queries, Sinhala document classification, Lucene Sinhala analyzer, interpretable text classification, genetic algorithm

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Authors: S. J. Taylor, S. Chowdhury, T. A. Pychyl

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Attention Deficit Hyperactivity Disorder (ADHD) and procrastination are often discussed in relation to problems with self-regulation and executive functioning (EF). The small body of extant research that has explored the relations between these variables has many limitations particularly in terms of the samples used and the measurement of procrastination. In this study, we recruited a sample of undergraduate students with a confirmed clinical diagnosis of ADHD (n = 48, 66.7% females) as well as a sample of student volunteers without ADHD (n = 68, 75.8% females) to investigate the relations between ADHD subtypes, EF, procrastination and other forms of delay. We used the newly developed Multidimensional Measure of Academic Procrastination and Delay Questionnaire. As hypothesized, the results revealed that individuals with ADHD displayed significantly more irrational delay, general procrastination and academic procrastination compared to individuals without ADHD. This study contributed to the research literature indicating that individuals with ADHD struggle with procrastination as a result of symptoms of ADHD and EF deficits. Theses results provide support for adopting a new language when describing procrastination problems among individuals with ADHD, and they have implications for the nature of academic accommodations and interventions for individuals with ADHD.

Keywords: ADHD, delay, executive functioning, procrastination, self-regulation

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Authors: Lize Tibiriçá, Ronnie Lee, Samantha Behbahani

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Fibromyalgia (FM) is a musculoskeletal disorder affecting men and women of different ages and cultures. The cause of this disorder is unknown; however, studies suggest an etiology that involves biological and psychosocial factors. Few studies have shown that a personality type such as neuroticism is associated with chronic pain conditions. Past research has explored whether patients with FM present with a specific personality trait. However, studies have used different methods (i.e. Minnesota Multiphasic Personality Inventory (MMPI), Sociotropy and Autonomy Scale (SAS) and Dysfunctional Attitude Scale (DAS), Tridimensional Personality Questionnaire or Temperament and Character Inventory (TCI), Karolinska scale of personality, Big Five Inventory or NEO Personality Inventory) to explore the connection between FM and a personality type. They have identified personality types that present similar characteristics but vary in the name (i.e. high harm avoidance and low novelty seeking, psychasthenia/muscular tension/somatic anxiety, neuroticism). Although Zuckerman-Kuhlman Personality Questionnaire and the Big Five Inventory differ in terms of content and structure, both of them identify neuroticism as the personality type of FM patients, and the former also identifies these patients as having a low sociability personality trait. Previous research also shows a trend of sociotropic personality style with FM patients that also suffer from Major Depressive Disorder. Participants in these studies were, for the most part, adult female and researchers have recognized that as a limitation and whether their findings can be generalized to men and younger patients with FM. Furthermore, most studies reviewed were conducted in Europe (i.e. Spain) and had a cross-sectional design. Future research should replicate past studies in different countries and consider conducting a longitudinal study. Although it is suspected that FM course is modulated by FM patients’ personality, it is not known whether individuals with similar personalities will develop FM. This review sought to explain the differences and similarities between the personality types identified. Limitations in the studies reviewed were addressed, and considerations for future research and treatment were discussed.

Keywords: chronic pain, fibromyalgia, neuroticism, personality type

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Authors: Ahmed M. El-Araby, Ibrahim Sabry, Ahmed El-Assal

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The relationships between the industrial facilities, the capacity available for these facilities, and the costs involved are the main factors in deciding the correct selection of a facility layout. In general, an issue of facility layout is considered to be an unstructured problem of decision-making. The objective of this work is to provide a survey that describes the techniques by which a facility planning problem can be solved and also the effect of these techniques on the efficiency of the layout. The multi-criteria decision making (MCDM) techniques can be classified according to the previous researches into three categories which are the use of single MCDM, combining two or more MCDM, and the integration of MCDM with another technique such as genetic algorithms (GA). This paper presents a review of different multi-criteria decision making (MCDM) techniques that have been proposed in the literature to pick the most suitable layout design. These methods are particularly suitable to deal with complex situations, including various criteria and conflicting goals which need to be optimized simultaneously.

Keywords: facility layout, MCDM, GA, literature review

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Authors: Noah Wayne, Andrea Tuka, Adrian Norbash, Bryan Garber, Paul Ritvo

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Program/Intervention Description: The Canadian Armed Forces(CAF) Mental Health Clinicstreat a full spectrum of mental disorder, addictions, and psychosocial issues that include Major Depressive Disorder, Post-Traumatic Stress Disorder, Generalized Anxiety Disorder, and other diagnoses. We evaluated the feasibility of an online health coach interventiondelivering mindfulness based cognitive behavioral therapy (M-CBT) and behaviour changesupport for individuals receiving treatment at CAF Clinics. Participants were provided accounts on NexJ Connected Wellness, a digital health platform, and 16 weeks of phone-based health coaching,emphasizingmild to moderate aerobic exercise, a healthy diet, and M-CBT content. The primary objective was to assess the feasibility of the online deliverywith CAF members. Evaluation Methods: Feasibility was evaluated in terms of recruitment, engagement, and program satisfaction. Weadditionallyevaluatedhealth behavior change, program completion, and mental health symptoms (i.e. PHQ-9, GAD-7, PCL-5) at three time points. Results: Service members were referred from Vancouver, Esquimalt, and Edmonton CAF bases between August 2020 and January 2021. N=106 CAF personnel were referred, and n=77 consented.N=66 participated, and n=44 completed 4-month and follow-up measures. The platform received a mean rating of76.5 on the System Usability Scale, and health coaching was judged the most helpful program feature (95.2% endorsement), while reminders (53.7%), secure messaging (51.2%), and notifications (51.2%) were also identified. Improvements in mental health status during active interventions were observed on the PHQ-9 (-5.4, p<0.001), GAD-7 (-4.0, p<0.001), and PCL-5 (-4.1, p<0.05). Conclusion: Online health coaching was well-received amidst the COVID-19 pandemic and related lockdowns. Uptake and engagement were positively reported. Participants valuedcontacts and reported strong therapeutic alliances with coaches. Healthy diet, regular exercise, and mindfulness practice are important for physical and mental health. Engagements in these behaviors are associated with reduced symptoms. An online health coach program appears feasible for assisting Canadian Armed Forces personnel.

Keywords: coaching, CBT, military, depression, mental health, digital

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Authors: Akeem Akinboro, Bala Alhaj Kegun

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Haemoglobinopathy is a genetic disorder that has the potentiality to cause death of individuals in whom both the alpha (α) and beta (β) globin chains of the haemoglobin molecule are defective due to mutations in their genes. The haemoglobin genotype variants among some residents of Niger state, Nigeria, were determined using the secondary data available at Bida, Minna and Kotangora general hospitals of the state. A total of 1,639 data, representing 434, 655 and 550, collected from the outside patients who visited the medical laboratory units of the three general hospitals, respectively, over five years period (2015-2020) were analyzed into gene frequency, sex and age to determine their haemoglobin genotypes status. More males (51.6 – 58.7%) than females (41.3 – 48.4%) visited the three hospitals during the period covered and most of the patients were between 11 - 20 years old. The frequency of HbA allele in the human population was 0.72, 0.65, 0.68 for Bida, Minna and Kotangora, respectively, while it was 0.25, 0.29 and 0.28 for HbS allele. The HbC allele was prevalent at 0.03, 0.06 and 0.05 among the human population in Bida, Minna and Kotangora cities of Niger state. In overall, the prevalence of HbA, HbS and HbC alleles in Niger state of Nigeria was 0.68, 0.28 and 0.05. Minna being the capital city of Niger state and the most populous among the three cities in the state seems to have influx of more people who are carriers of abnormal haemoglobin genotypes which has resulted to higher frequency of HbS and HbC than those of the other two cities in this study. These results show that the pattern of haemoglobin genotypes frequency of Kontagora could be a prediction for the whole of Niger state. It is therefore necessary and important to take screening of blood for haemoglobin genotype serious among intending couples to prevent and reduce the possibility of having increase in the number of people with abnormal haemoglobin genotypes in the state.

Keywords: haemoglobin, genotype, niger state, gene frequency, general hospitals

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Authors: Kwan Hee Han, Jun Woo Lee, Sung Moon Bae, Twae Kyung Park

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ECA (Event-Condition-Action) languages are largely adopted for event processing since they are an intuitive and powerful paradigm for programming reactive systems. However, there are some limitations about ECA rules for processing of complex events such as coupling of event producer and consumer. The objective of this paper is to propose an ECA rule pattern to improve the current limitations of ECA rule, and to develop a prototype system. In this paper, conventional ECA rule is separated into 3 parts and each part is extended to meet the requirements of CEP. Finally, event processing logic is established by combining the relevant elements of 3 parts. The usability of proposed extended ECA rule is validated by a test scenario in this study.

Keywords: complex event processing, ECA rule, Event processing system, event-driven architecture, internet of things

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Authors: Pan Long, Bi Dongjie, Li Xifeng, Xie Yongle

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The near-field synthetic aperture radar (SAR) imaging is an advanced nondestructive testing and evaluation (NDT&E) technique. This paper investigates the complex-valued signal processing related to the near-field SAR imaging system, where the measurement data turns out to be noncircular and improper, meaning that the complex-valued data is correlated to its complex conjugate. Furthermore, we discover that the degree of impropriety of the measurement data and that of the target image can be highly correlated in near-field SAR imaging. Based on these observations, A modified generalized sparse Bayesian learning algorithm is proposed, taking impropriety and noncircularity into account. Numerical results show that the proposed algorithm provides performance gain, with the help of noncircular assumption on the signals.

Keywords: complex-valued signal processing, synthetic aperture radar, 2-D radar imaging, compressive sensing, sparse Bayesian learning

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Authors: Shaban Aly, Ali Al-Qahtani, Houari B. Khenous

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Synchronization is an important phenomenon commonly observed in nature. A system of periodically forced complex Duffings oscillators was introduced and shown to display chaotic behavior and possess strange attractors. Such complex oscillators appear in many problems of physics and engineering, as, for example, nonlinear optics, deep-water wave theory, plasma physics and bimolecular dynamics. In this paper, we study the remarkable phenomenon of chaotic synchronization on these oscillator systems, using impulsive synchronization techniques. We derive analytical expressions for impulsive control functions and show that the dynamics of error evolution is globally stable, by constructing appropriate Lyapunov functions. This means that, for a relatively large set initial conditions, the differences between the drive and response systems vanish exponentially and synchronization is achieved. Numerical results are obtained to test the validity of the analytical expressions and illustrate the efficiency of these techniques for inducing chaos synchronization in our nonlinear oscillators.

Keywords: complex nonlinear oscillators, impulsive synchronization, chaotic systems, global exponential synchronization

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Authors: A. Brand, S. Burgalat, E. Chastel, M. Jumeline, L. Teilhac

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The paper presents actual benefits and drawbacks of a multidirectional Hovercraft conceived with limited resources and designed for indoor exploration. Recent developments in the field have led to apparition of very powerful automotive systems capable of very high calculation and exploration in complex unknown environments. They usually propose very complex algorithms, high precision/cost sensors and sometimes have heavy calculation consumption with complex data fusion. Those systems are usually powerful but have a certain price and the benefits may not be worth the cost, especially considering their hardware limitations and their power consumption. Present approach is to build a compromise between cost, power consumption and results preciseness.

Keywords: Hovercraft, indoor exploration, autonomous, multidirectional, wireless control

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Authors: Shahzad Bhattiab, M. Aslamkhana, Sana Abbasbc, Marcella Attimonellid, Kumarasamy Thangaraje, Erica Martinha Silva de Souzaf, Uzay U. Sezen

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The present study was designed to investigate three regions of mitochondrial DNA, HVI, HVII and HVIII, to hold a powwow genetic diversity and affiliations in 115 probands of 6 major ethnic groups, viz., Bijarani, Chandio, Ghallu, Khoso, Nasrani and Solangi, in the province of Sindh of Pakistan. For this purpose 88 haplotypes were scrutinized, defined by particular set of nucleotides (ignoring the C insertions around position 309 and 315). In spite of that 82% sequences were observed once, 12 % twice and 5.2 % thrice. The most common South Asian haplotypes were observed M (42%), N (6.9%) and R (6.9%) whereas west Eurasian haplotypes were J (1.7%), U (23.4%), H (9.5%), W (6.9%) and T (0.86%), in six ethnic groups. A random match probability between two unrelated individuals was found 0.06 %, while genetic diversity was ranged to be 0.991 to 0.999, and nucleotide diversity ranged from 0.0089 to 0.0142 for the whole control region of the population studied.

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

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Authors: Hussain Syed Asad, Richard Kwok Kit Yuen, Gongsheng Huang

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Real-time optimization has been considered an effective approach for improving energy efficient operation of heating, ventilation, and air-conditioning (HVAC) systems. In model-based real-time optimization, model mismatches cannot be avoided. When model mismatches are significant, the performance of the real-time optimization will be impaired and hence the expected energy saving will be reduced. In this paper, the model mismatches for chiller plant on real-time optimization are considered. In the real-time optimization of the chiller plant, simplified semi-physical or grey box model of chiller is always used, which should be identified using available operation data. To overcome the model mismatches associated with the chiller model, hybrid Genetic Algorithms (HGAs) method is used for online real-time training of the chiller model. HGAs combines Genetic Algorithms (GAs) method (for global search) and traditional optimization method (i.e. faster and more efficient for local search) to avoid conventional hit and trial process of GAs. The identification of model parameters is synthesized as an optimization problem; and the objective function is the Least Square Error between the output from the model and the actual output from the chiller plant. A case study is used to illustrate the implementation of the proposed method. It has been shown that the proposed approach is able to provide reliability in decision making, enhance the robustness of the real-time optimization strategy and improve on energy performance.

Keywords: energy performance, hybrid adaptive modeling, hybrid genetic algorithms, real-time optimization, heating, ventilation, and air-conditioning

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Authors: Simon B. N. Thompson

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Retinoblastoma is a rare type of childhood genetic cancer that affects children worldwide. The diagnosis is often missed due to lack of education and difficulty in presentation of the tumor. Frequently, the tumor on the retina is noticed by photography when the red-eye flash, commonly seen in normal eyes, is not produced. Instead, a yellow or white colored patch is seen or the child has a noticeable strabismus. Early detection can be life-saving though often results in removal of the affected eye. Remaining functioning in the healthy eye when the child is young has resulted in super-vision and high or above-average intelligence. Technological advancement of cameras has helped in early detection. Brain imaging has also made possible early detection of neurological diseases and, together with the monitoring of cortisol levels and yawning frequency, promises to be the next new early diagnostic tool for the detection of neurological diseases where cortisol insufficiency is particularly salient, such as multiple sclerosis and Cushing’s disease.

Keywords: cortisol, neurological disease, retinoblastoma, Thompson cortisol hypothesis, yawning

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Authors: Vikas Kumar, Kailash Chandra, Kaomud Tyagi

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The insect order Thysanoptera includes small insects commonly called thrips. As insect vectors, only thrips are capable of Tospoviruses transmission (genus Tospovirus, family Bunyaviridae) affecting various crops. Currently, fifteen species of subfamily Thripinae (Thripidae) have been reported as vectors for tospoviruses. Frankliniella schultzei, which is reported as act as a vector for at least five tospovirses, have been suspected to be a species complex with more than one species. It is one of the historical unresolved issues where, two species namely, F. schultzei Trybom and F. sulphurea Schmutz were erected from South Africa and Srilanaka respectively. These two species were considered to be valid until 1968 when sulphurea was treated as colour morph (pale form) and synonymised under schultzei (dark form) However, these two have been considered as valid species by some of the thrips workers. Parallel studies have indicated that brown form of schultzei is a vector for tospoviruses while yellow form is a non-vector. However, recent studies have shown that yellow populations have also been documented as vectors. In view of all these facts, it is highly important to have a clear understanding whether these colour forms represent true species or merely different populations with different vector carrying capacities and whether there is some hidden diversity in 'Frankliniella schultzei species complex'. In this study, we aim to study the 'Frankliniella schultzei species complex' with molecular spectacles with DNA data from India and Australia and Africa. A total of fifty-five specimens was collected from diverse locations in India and Australia. We generated molecular data using partial fragments of mitochondrial cytochrome c oxidase I gene (mtCOI) and 28S rRNA gene. For COI dataset, there were seventy-four sequences, out of which data on fifty-five was generated in the current study and others were retrieved from NCBI. All the four different tree construction methods: neighbor-joining, maximum parsimony, maximum likelihood and Bayesian analysis, yielded the same tree topology and produced five cryptic species with high genetic divergence. For, rDNA, there were forty-five sequences, out of which data on thirty-nine was generated in the current study and others were retrieved from NCBI. The four tree building methods yielded four cryptic species with high bootstrap support value/posterior probability. Here we could not retrieve one cryptic species from South Africa as we could not generate data on rDNA from South Africa and sequence for rDNA from African region were not available in the database. The results of multiple species delimitation methods (barcode index numbers, automatic barcode gap discovery, general mixed Yule-coalescent, and Poisson-tree-processes) also supported the phylogenetic data and produced 5 and 4 Molecular Operational Taxonomic Units (MOTUs) for mtCOI and 28S dataset respectively. These results of our study indicate the likelihood that F. sulphurea may be a valid species, however, more morphological and molecular data is required on specimens from type localities of these two species and comparison with type specimens.

Keywords: DNA barcoding, species complex, thrips, species delimitation

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Authors: Hanaa A. S. Oraby, Amal A. M. Hassan, Mahmoud M. Sakr, Atef A. A. Haiba

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Applying the profiling approach for the assessment of proteomic variations due to genetic modification of the Egyptian tomato cultivar "Edkawy", three complementary approaches were used. These methods are amino acids analysis, gel electrophoresis, and Gas chromatography coupled with mass spectrometry (GC/MS). The results of the present study Show evidence of proteomic variations between both modified tomato and its non-modified counterpart. Amino acids concentrations, and the protein patterns separation on the 1D SDS-PAGE were not similar in the case of transformed tomato compared to that of the non-transformed counterpart. These detected differences are most likely derived from the process of transformation. Results also revealed that the efficiency of GC/MS approach to identify a mixture of unknown proteins is limited. GC/MS analysis was only able to identify few number of protein molecules. Therefore, more advanced and specific technologies like MALDI-TOF-MS are recommended to be employed.

Keywords: GMOs, unintended effects, proteomic variations, 1D SDS-PAGE, GC/MS

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Authors: V. Keim, J. Spachtholz, J. Hammer

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The importance of fibre reinforced plastics continually increases due to the excellent mechanical properties, low material and manufacturing costs combined with significant weight reduction. Today, components are usually designed and calculated numerically by using finite element methods (FEM) to avoid expensive laboratory tests. These programs are based on material models including material specific deformation characteristics. In this research project, material models for short glass fibre reinforced plastics are presented to simulate the visco-elasto-plastic deformation behaviour. Prior to modelling specimens of the material EMS Grivory HTV-5H1, consisting of a Polyphthalamide matrix reinforced by 50wt.-% of short glass fibres, are characterized experimentally in terms of the highly time dependent deformation behaviour of the matrix material. To minimize the experimental effort, the cyclic deformation behaviour under tensile and compressive loading (R = −1) is characterized by isothermal complex low cycle fatigue (CLCF) tests. Combining cycles under two strain amplitudes and strain rates within three orders of magnitude and relaxation intervals into one experiment the visco-elastic deformation is characterized. To identify visco-plastic deformation monotonous tensile tests either displacement controlled or strain controlled (CERT) are compared. All relevant modelling parameters for this complex superposition of simultaneously varying mechanical loadings are quantified by these experiments. Subsequently, two different material models are compared with respect to their accuracy describing the visco-elasto-plastic deformation behaviour. First, based on Chaboche an extended 12 parameter model (EVP-KV2) is used to model cyclic visco-elasto-plasticity at two time scales. The parameters of the model including a total separation of elastic and plastic deformation are obtained by computational optimization using an evolutionary algorithm based on a fitness function called genetic algorithm. Second, the 12 parameter visco-elasto-plastic material model by Launay is used. In detail, the model contains a different type of a flow function based on the definition of the visco-plastic deformation as a part of the overall deformation. The accuracy of the models is verified by corresponding experimental LCF testing.

Keywords: complex low cycle fatigue, material modelling, short glass fibre reinforced polyphthalamides, visco-elasto-plastic deformation

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Authors: Pavlina Capkova, Josef Srovnal, Vera Becvarova, Marie Trkova, Zuzana Capkova, Andrea Stefekova, Vaclava Curtisova, Alena Santava, Sarka Vejvalkova, Katerina Adamova, Radek Vodicka

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ASDs are heterogeneous and complex developmental diseases with a significant genetic background. Recurrent CNVs are known to be a frequent cause of ASD. These CNVs can have, however, a variable expressivity which results in a spectrum of phenotypes from asymptomatic to ID/DD/ASD. ASD is associated with ID in ~75% individuals. Various platforms are used to detect pathogenic mutations in the genome of these patients. The performed study is focused on a determination of the frequency of pathogenic mutations in a group of ASD patients and a group of ID/DD patients using various strategies along with a comparison of their detection rate. The possible role of the origin of these mutations in aetiology of ASD was assessed. The study included 35 individuals with ASD and 68 individuals with ID/DD (64 males and 39 females in total), who underwent rigorous genetic, neurological and psychological examinations. Screening for pathogenic mutations involved karyotyping, screening for FMR1 mutations and for metabolic disorders, a targeted MLPA test with probe mixes Telomeres 3 and 5, Microdeletion 1 and 2, Autism 1, MRX and a chromosomal microarray analysis (CMA) (Illumina or Affymetrix). Chromosomal aberrations were revealed in 7 (1 in the ASD group) individuals by karyotyping. FMR1 mutations were discovered in 3 (1 in the ASD group) individuals. The detection rate of pathogenic mutations in ASD patients with a normal karyotype was 15.15% by MLPA and CMA. The frequencies of the pathogenic mutations were 25.0% by MLPA and 35.0% by CMA in ID/DD patients with a normal karyotype. CNVs inherited from asymptomatic parents were more abundant than de novo changes in ASD patients (11.43% vs. 5.71%) in contrast to the ID/DD group where de novo mutations prevailed over inherited ones (26.47% vs. 16.18%). ASD patients shared more frequently their mutations with their fathers than patients from ID/DD group (8.57% vs. 1.47%). Maternally inherited mutations predominated in the ID/DD group in comparison with the ASD group (14.7% vs. 2.86 %). CNVs of an unknown significance were found in 10 patients by CMA and in 3 patients by MLPA. Although the detection rate is the highest when using CMA, recurrent CNVs can be easily detected by MLPA. CMA proved to be more efficient in the ID/DD group where a larger spectrum of rare pathogenic CNVs was revealed. This study determined that maternally inherited highly penetrant mutations and de novo mutations more often resulted in ID/DD without ASD in patients. The paternally inherited mutations could be, however, a source of the greater variability in the genome of the ASD patients and contribute to the polygenic character of the inheritance of ASD. As the number of the subjects in the group is limited, a larger cohort is needed to confirm this conclusion. Inherited CNVs have a role in aetiology of ASD possibly in combination with additional genetic factors - the mutations elsewhere in the genome. The identification of these interactions constitutes a challenge for the future. Supported by MH CZ – DRO (FNOl, 00098892), IGA UP LF_2016_010, TACR TE02000058 and NPU LO1304.

Keywords: autistic spectrum disorders, copy number variant, chromosomal microarray, intellectual disability, karyotyping, MLPA, multiplex ligation-dependent probe amplification

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Authors: Susan Amirsalari, Azime Khosrinejad, Elham Rahimian

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Objective: Epilepsy is a common brain disorder characterized by a persistent tendency to develop in neurological, cognitive, and psychological contents. Magnetic Resonance Imaging (MRI) is a neuroimaging test facilitating the detection of structural epileptogenic lesions. This study aimed to compare the MRI findings between patients with intractable and drug-responsive epilepsy. Material & methods: This case-control study was conducted from 2007 to 2019. The research population encompassed all 1-16- year-old patients with intractable epilepsy referred to the Shafa Neuroscience Center (n=72) (a case group) and drug-responsive patients referred to the pediatric neurology clinic of Baqiyatallah Hospital (a control group). Results: There were 72 (23.5%) patients in the intractable epilepsy group and 200 (76.5%) patients in the drug-responsive group. The participants' mean age was 6.70 ±4.13 years, and there were 126 males and 106 females in this study Normal brain MRI was noticed in 21 (29.16%) patients in the case group and 184 (92.46%) patients in the control group. Neuronal migration disorder (NMD)was also exhibited in 7 (9.72%) patients in the case group and no patient in the control group. There were hippocampal abnormalities and focal lesions (mass, dysplasia, etc.) in 10 (13.88%) patients in the case group and only 1 (0.05%) patient in the control group. Gliosis and porencephalic cysts were presented in 3 (4.16%) patients in the case group and no patient in the control group. Cerebral and cerebellar atrophy was revealed in 8 (11.11%) patients in the case group and 4 (2.01%) patients in the control group. Corpus callosum agenesis, hydrocephalus, brain malacia, and developmental cyst were more frequent in the case group; however, the difference between the groups was not significant. Conclusion: The MRI findings such as hippocampal abnormalities, focal lesions (mass, dysplasia), NMD, porencephalic cysts, gliosis, and atrophy are significantly more frequent in children with intractable epilepsy than in those with drug-responsive epilepsy.

Keywords: magnetic resonance imaging, intractable epilepsy, drug responsive epilepsy, neuronal migrational disorder

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Authors: Rachana Tank, Donald. M. Lyall, Kristin Flegal, Joey Ward, Jonathan Cavanagh

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Alzheimer’s research UK estimates by 2050, 2 million individuals will be living with Late Onset Alzheimer’s disease (LOAD). However, individuals experience considerable cognitive deficits and brain pathology over decades before reaching clinically diagnosable LOAD and studies have utilised gene candidate studies such as genome wide association studies (GWAS) and polygenic risk (PGR) scores to identify high risk individuals and potential pathways. This investigation aims to determine whether high genetic risk of LOAD is associated with worse brain MRI and cognitive performance in healthy older adults within the UK Biobank cohort. Previous studies investigating associations of PGR for LOAD and measures of MRI or cognitive functioning have focused on specific aspects of hippocampal structure, in relatively small sample sizes and with poor ‘controlling’ for confounders such as smoking. Both the sample size of this study and the discovery GWAS sample are bigger than previous studies to our knowledge. Genetic interaction between loci showing largest effects in GWAS have not been extensively studied and it is known that APOE e4 poses the largest genetic risk of LOAD with potential gene-gene and gene-environment interactions of e4, for this reason we  also analyse genetic interactions of PGR with the APOE e4 genotype. High genetic loading based on a polygenic risk score of 21 SNPs for LOAD is associated with worse brain MRI and cognitive outcomes in healthy individuals within the UK Biobank cohort. Summary statistics from Kunkle et al., GWAS meta-analyses (case: n=30,344, control: n=52,427) will be used to create polygenic risk scores based on 21 SNPs and analyses will be carried out in N=37,000 participants in the UK Biobank. This will be the largest study to date investigating PGR of LOAD in relation to MRI. MRI outcome measures include WM tracts, structural volumes. Cognitive function measures include reaction time, pairs matching, trail making, digit symbol substitution and prospective memory. Interaction of the APOE e4 alleles and PGR will be analysed by including APOE status as an interaction term coded as either 0, 1 or 2 e4 alleles. Models will be adjusted partially for adjusted for age, BMI, sex, genotyping chip, smoking, depression and social deprivation. Preliminary results suggest PGR score for LOAD is associated with decreased hippocampal volumes including hippocampal body (standardised beta = -0.04, P = 0.022) and tail (standardised beta = -0.037, P = 0.030), but not with hippocampal head. There were also associations of genetic risk with decreased cognitive performance including fluid intelligence (standardised beta = -0.08, P<0.01) and reaction time (standardised beta = 2.04, P<0.01). No genetic interactions were found between APOE e4 dose and PGR score for MRI or cognitive measures. The generalisability of these results is limited by selection bias within the UK Biobank as participants are less likely to be obese, smoke, be socioeconomically deprived and have fewer self-reported health conditions when compared to the general population. Lack of a unified approach or standardised method for calculating genetic risk scores may also be a limitation of these analyses. Further discussion and results are pending.

Keywords: Alzheimer's dementia, cognition, polygenic risk, MRI

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Authors: Walid Moudani, Ahmad Shahin

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This research presents a study to handle the recruitment services system. It aims to enhance a business intelligence system by embedding data mining in its core engine and to facilitate the link between job searchers and recruiters companies. The purpose of this study is to present an intelligent management system for supporting recruitment services based on data mining methods. It consists to apply segmentation on the extracted job postings offered by the different recruiters. The details of the job postings are associated to a set of relevant features that are extracted from the web and which are based on critical criterion in order to define consistent clusters. Thereafter, we assign the job searchers to the best cluster while providing a ranking according to the job postings of the selected cluster. The performance of the proposed model used is analyzed, based on a real case study, with the clustered job postings dataset and classified job searchers dataset by using some metrics.

Keywords: job postings, job searchers, clustering, genetic algorithms, business intelligence

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Authors: Mohamedou El Boukhary, Farba Bouyagui Tamboura, A. Hamady Barry, T. Moussa Seck, Mohamed L. Gaye

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Nowadays, low-schiff acyl-hydrazone ligands are highly sought after due to their wide applications in various fields of biology, coordination chemistry, and catalysis. They are studied for their antioxidant, antibacterial and antiviral properties. The complexes of transition metals and the lanthanide they derive are well known for their magnetic, optical, and catalytic properties. In this work, we present the synthesis of an acyl-hydrazone (H2L) schiff base and their 3d transition complexes. The ligand (H2L) is characterized by IR, NMR (1H; 13C) spectroscopy. The complexes are characterized by different physic-chemical techniques such as IR, UV-visible, conductivity, measurement of magnetic susceptibility. The study of XRD allowed us to elucidate the crystalline structure of the manganese (Mn) complex. The asymmetric unit of the complex is composed of two molecules of the ligand, one manganese (II) ion, and two coordinate chloride ions; the environment around Mn is described as a pentagonal base bipyramid. In the crystal lattice, the asymmetric unit is bound by hydrogen bonds.

Keywords: synthene, acyl-hydrazone, 3D transition metal complex, application

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Authors: Asma'u Mahe, Abdullahi A. Imam, Adamu J. Alhassan, Nasiru Abdullahi, Sadiya A. Bichi, Nura Lawal, Kamaluddeen Babagana

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Malaria is a disease with global health significance. It is caused by parasites and transmitted by Anopheles mosquitoes. Increase in insecticide resistance threatens the disease vector control. The strength of selection pressure acting on a mosquito population in relation to insecticide resistance can be assess by determining the genetic diversity of a fragment spanning exon- 20 of IIS6 of the voltage gated sodium channel (VGSC). Larval samples reared to adulthood were identified and kdr (knock down resistance) profile was determined. The DNA sequences were used to assess the patterns of genetic differentiation by determining the levels of genetic variability between the Anopheles mosquitoes. Genetic differentiation of the Anopheles mosquitoes based on a portion of the voltage gated sodium channel gene was obtained. Polymorphisms were detected; sequence variation and analysis were presented as a phylogenetic tree. Phylogenetic tree of VGSC haplotypes was constructed for samples of the Anopheles mosquitoes using the maximum likelihood method in MEGA 6.0 software. DNA sequences were edited using BioEdit sequence editor. The edited sequences were aligned with reference sequence (Kisumu strain). Analyses were performed as contained in dnaSP 5.10. Results of genetic parameters of polymorphism and haplotype reconstruction were presented in count. Twenty sequences were used for the analysis. Regions selected were 1- 576, invariable (monomorphic) sites were 460 while variable (polymorphic) sites were 5 giving the number of total mutations observed in this study. Mutations obtained from the study were at codon 105: TTC- Phenylalanine replaces TCC- Serine, codon 513: TAG- Termination replaces TTG- Leucine, codon 153, 300 and 553 mutations were non-synonymous. From the constructed phylogenetic tree, some groups were shown to be closer with Exon20Gambiae Kisumu (Reference strain) having some genetic distance, while 5-Exon20Gambiae-F I13.ab1, 18-Exon20Gambiae-F C17.ab1, and 2-Exon20Gambiae-F C13.ab1 clustered together genetically differentiated away from others. Mutations observed in this study can be attributed to the high insecticide resistance profile recorded in the study areas. Haplotype networks of pattern of genetic variability and polymorphism for the fragment of the VGSC sequences of sampled Anopheles mosquitoes revealed low haplotypes for the present study. Haplotypes are set of closely linked DNA variation on X-chromosome. Haplotypes were scaled accordingly to reflect their respective frequencies. Low haplotype number, four VGSC-1014F haplotypes were observed in this study. A positive association was previously established between low haplotype number of VGSC diversity and pyrethroid resistance through kdr mechanism. Significant values at (P < 0.05) of Tajima D and Fu and Li D’ were observed for some of the results indicating possible signature of positive selection on the fragment of VGSC in the study. This is the first report of VGSC-1014F in the study site. Based on the results, the mutation was present in low frequencies. However, the roles played by the observed mutations need further investigation. Mutations, environmental factors among others can affect genetic diversity. The study area has recorded increase in insecticide resistance that can affect vector control in the area. This finding might affect the efforts made against malaria. Sequences were deposited in GenBank for Accession Number.

Keywords: anopheles mosquitoes, insecticide resistance, kdr, malaria, voltage gated sodium channel

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Authors: Arslan Ellahi, Syed Amjad Hussain

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Software Testing is a vital process in software development life cycle. We can attain the quality of software after passing it through software testing phase. We have tried to find out automatic test data generation techniques that are a key research area of software testing to achieve test automation that can eventually decrease testing time. In this paper, we review some of the approaches presented in the literature which use evolutionary search based algorithms like Genetic Algorithm, Particle Swarm Optimization (PSO), etc. to validate the test data generation process. We also look into the quality of test data generation which increases or decreases the efficiency of testing. We have proposed test data generation techniques for model-based testing. We have worked on tuning and fitness function of PSO algorithm.

Keywords: search based, evolutionary algorithm, particle swarm optimization, genetic algorithm, test data generation

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Authors: Agnieszka Kałdonek-Crnjaković

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Research on Attention-Deficit/Hyperactivity Disorder (ADHD) is abundant but not in the field of applied linguistics and foreign or second language education. To fill this research gap, the present study aimed to investigate the effect of ADHD on skills and systems development in a second and foreign language from the teacher's perspective. The participants were 51 English as a foreign language (EFL) teachers in Poland working in state pre-, primary, and high schools. Research questions were as follows: Do ADHD-type behaviors affect EFL learning of the individual with the condition and their classmates to the same extent considering different educational settings and specific skills and systems? And To what extent do ADHD-type behaviors affect ESL/EFL skills and systems considering different ADHD presentations? Data were collected by means of a questionnaire distributed via a Google form. It contained 14 statements on a six-point Likert scale related to the effect of ADHD on specific language skills and systems in the context of an individual with the condition and their classmates and situations related to inattention and hyperactivity/impulsivity presentations of the condition, where the participants needed to identify skills and systems affected by the given ADHD manifestation. The results show that ADHD affects all language skills and systems development in both the individual with the condition and their classmates, but this effect is more significant in the latter. However, ADHD affected skills and systems to a different degree; writing skills were reported as the most affected by this disorder. Also, the effect of ADHD differed depending on the educational setting, being the highest in high school and lowest in the first three grades of primary school. These findings will be discussed in the context of foreign/second language teaching in the school context, considering different phases of education as well as future research on ADHD and language learning and teaching.

Keywords: ADHD, EFL teachers, foreign/second language learning, language skills and systems development

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Authors: Akshay S. Dalvi, Hazim El-Mounayri

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The internal and the external interactions between the complex structural and behavioral characteristics of the complex energy system result in unpredictable emergent behaviors. These emergent behaviors are not well understood, especially when modeled using the traditional top-down systems engineering approach. The intrinsic nature of current complex energy systems has called for an elegant solution that provides an integrated framework in Model-Based Systems Engineering (MBSE). This paper mainly presents a MBSE driven approach to define and handle the complexity that arises due to emergent behaviors. The approach provides guidelines for developing system architecture that leverages in predicting the complexity index of the system at different levels of abstraction. A framework that integrates indefinite and definite modeling aspects is developed to determine the complexity that arises during the development phase of the system. This framework provides a workflow for modeling complex systems using Systems Modeling Language (SysML) that captures the system’s requirements, behavior, structure, and analytical aspects at both problem definition and solution levels. A system architecture for a district cooling plant is presented, which demonstrates the ability to predict the complexity index. The result suggests that complex energy systems like district cooling plant can be defined in an elegant manner using the unconventional modified MBSE driven approach that helps in estimating development time and cost.

Keywords: district cooling plant, energy systems, framework, MBSE

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Authors: Melissa K. Hord, Stephen P. Whiteside

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Impairment in functioning is a requirement for diagnosing psychopathology, identifying individuals in need of treatment, and documenting improvement with treatment. Further, identifying different types of functional impairment can guide educators and treatment providers. However, most assessment tools focus on symptom severity and few measures assess impairment associated with childhood anxiety disorders. The child- and parent-report versions of the Child Sheehan Disability Scale (CSDS) are measures that may provide useful information regarding impairment. The purpose of the present study is to examine whether children diagnosed with different anxiety disorders have greater impairment in school or home functioning based on self or parent report. The sample consisted of 844 children ages 5 to 19 years of age (mean 13.43, 61% female, 90.9% Caucasian), including 281 children diagnosed with obsessive compulsive disorder (OCD), 200 with generalized anxiety disorder (GAD), 176 with social phobia, 83 with separation anxiety, 61 with anxiety not otherwise specified (NOS), 30 with panic disorder, and 13 with panic with agoraphobia. To assess whether children and parents reported greater impairment in school or home functioning, a multivariate analysis of variance was conducted. (The assumptions of independence and homogeneity of variance were checked and met). A significant difference was found, Pillai's trace = .143, F (4, 28) = 4.19, p < .001, partial eta squared = .04. Post hoc comparisons using the Tukey HSD test indicated that children report significantly greater impairment in school with panic disorder (M=5.18, SD=3.28), social phobia (M=4.95, SD=3.20), and OCD (M=4.62, SD=3.32) compared to other diagnoses; whereas parents endorse significantly greater school impairment when their child has a social phobia (M=5.70, SD=3.39) diagnosis. Interestingly, both children and parents reported greater impairment in family functioning for an OCD (child report M=5.37, SD=3.20; parent report M=5.59, SD=3.38) diagnosis compared to other anxiety diagnoses. (Additional findings for the anxiety disorders associated with less impairment will also be presented). The results of the current study have important implications for educators and treatment providers who are working with anxious children. First, understanding that differences exist in how children and parents view impairment related to childhood anxiety can help those working with these families to be more sensitive during interactions. Second, evidence suggests that difficulties in one environment do not necessarily translate to another environment, thus caregivers may benefit from careful explanation of observations obtained by educators. Third, results support the use of the CSDS measure by treatment providers to identify impairment across environments in order to more effectively target interventions.

Keywords: anxiety, childhood, impairment, school functioning

Procedia PDF Downloads 278

Authors: S. Burgalat, L. Teilhac, A. Brand, E. Chastel, M. Jumeline

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The paper presents actual benefits and drawbacks of a multidirectional autonomous hovercraft conceived with limited resources and designed for indoor exploration. Recent developments in the field have led to the apparition of very powerful automotive systems capable of very high calculation and exploration in complex unknown environments. They usually propose very complex algorithms, high precision/cost sensors and sometimes have heavy calculation consumption with complex data fusion. These systems are usually powerful but have a certain price, and the benefits may not be worth the cost, especially considering their hardware limitations and their power consumption. The present approach is to build a compromise between cost, power consumption and results preciseness.

Keywords: hovercraft, indoor exploration, autonomous, multidirectional, wireless control

Procedia PDF Downloads 278