Search results for: autosomal recessive genetic disorder (ARGD)

Authors: Ariadna Jalife Gómez, Claudia Rangel Escareño

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The Acropora coral genus has experienced impactful consequences of climate change, especially in terms of population reduction related to limited thermal tolerance, however, comprehensive resources for genetic responses of these corals to phenomena are lacking. Thus, this study aims to identify key genes expressed across different developmental stages and conditions of Acropora spp. highlighted in published studies given the shared tissue and polyp-level characteristics among the species comprising the genus, as it is hypothesized that common reproductive, developmental, and stress response mechanisms are conserved. The presented resources, aiming to streamline the genus’ biology, elucidate several signaling pathways of development and stress response that contribute to the understanding of researchers of overall biological responses, while providing a genetic framework for potential further studies that might contribute to reef preservation strategies.

Keywords: acropora, development, genes, transcriptomics

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Authors: Chiung-Man Tsai, Chia-Jui Weng

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Leptin (LEP) and leptin receptor (LEPR) both play a crucial role in the mediation of physiological reactions and carcinogenesis and may serve as a candidate biomarker of oral cancer. The present case-control study aimed to examine the effects of single nucleotide polymorphisms (SNPs) of LEP -2548 G/A (rs7799039), LEPR K109R (rs1137100), and LEPR Q223R (rs1137101) with or without interacting to environmental carcinogens on the risk for oral squamous cell carcinoma (OSCC). The SNPs of three genetic allele, from 567 patients with oral cancer and 560 healthy controls in Taiwan were analyzed. All of The three genetic polymorphisms exhibited insignificant (P > .05) effects on the risk to have oral cancer. However, the patients with polymorphic allele of LEP -2548 have a significant low risk for the development of clinical stage (A/G, AOR = 0.670, 95% CI = 0.454–0.988, P < .05; A/G+G/G, AOR = 0.676, 95% CI = 0.467–0.978, P < .05) compared to patients with ancestral homozygous A/A genotype. Additionally, an interesting result was found that the impact of LEP -2548 G/A SNP on oral carcinogenesis in subjects without tobacco consumption (A/G, AOR=2.078, 95% CI: 1.161-3.720, p=0.014; A/G+G/G, AOR=2.002, 95% CI: 1.143-3.505, p=0.015) is higher than subjects with tobacco consumption. These results suggest that the genetic polymorphism of LEP -2548 G/A (rs7799039), LEPR K109R (rs1137100), and LEPR Q223R (rs1137101) were not associated with the susceptibility of oral cancer; SNP in LEP -2548 G/A showed a poor clinicopathological development of oral cancer; Population without tobacco consumption and with polymorphic LEP -2548 G/A gene may significantly increase the risk to have oral cancer.

Keywords: carcinogen, leptin, leptin receptor, oral squamous cell carcinoma, single nucleotide polymorphism

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Authors: Eid Alharbi, Yaser Miaji

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The importance of fruit quality and freshness is potential in today’s life. Most recent studies show and automatic online sorting system according to the internal disorder for fresh apple fruit has developed by using near infrared (NIR) spectroscopic technology. The automatic conveyer belts system along with sorting mechanism was constructed. To check the internal quality of the apple fruit, apple was exposed to the NIR radiations in the range 650-1300nm and the data were collected in form of absorption spectra. The collected data were compared to the reference (data of known sample) analyzed and an electronic signal was pass to the sorting system. The sorting system was separate the apple fruit samples according to electronic signal passed to the system. It is found that absorption of NIR radiation in the range 930-950nm was higher in the internally defected samples as compared to healthy samples. On the base of this high absorption of NIR radiation in 930-950nm region the online sorting system was constructed.

Keywords: mechatronics design, NIR, fruit quality, spectroscopic technology

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Authors: Eid Alharbi, Yaser Miaji

Abstract:

The importance of fruit quality and freshness is potential in today’s life. Most recent studies show and automatic online sorting system according to the internal disorder for fresh apple fruit has developed by using near infrared (NIR) spectroscopic technology. The automatic conveyer belts system along with sorting mechanism was constructed. To check the internal quality of the apple fruit, apple was exposed to the NIR radiations in the range 650-1300nm and the data were collected in form of absorption spectra. The collected data were compared to the reference (data of known sample) analyzed and an electronic signal was pass to the sorting system. The sorting system was separate the apple fruit samples according to electronic signal passed to the system. It is found that absorption of NIR radiation in the range 930-950nm was higher in the internally defected samples as compared to healthy samples. On the base of this high absorption of NIR radiation in 930-950nm region the online sorting system was constructed.

Keywords: mechatronics design, NIR, fruit quality, spectroscopic technology

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Authors: Amaal Almigal

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Neurotypical children learn to ask questions from natural exposure and this skill is fundamental for their academic success. However, children with autism spectrum disorder may not learn to ask in the same way due to earlier communication impairments, and some may need to use Augmentative and Alternative Communication systems (AAC) to ask questions. This paper aims to highlight issues related to questioning skills in children with autism giving a specific attention to asking questions within preverbal or minimally verbal children. Different procedures have been employed to teach these children, including AAC users, to ask questions. Therefore, these procedures will also be discussed to administrate how they were used and what they were aimed to teach. This paper also provides a suggested procedure to assist preverbal or minimally verbal children to ask questions using an iPad application for communication (Proloquo2Go) as AAC. This suggested procedure was used with 3 children with autism. Initial results will be discussed to clarify ways in which this procedure was used with each child based on his skills and which questioning skills each child has acquired using this procedure.

Keywords: AAC, autism, communication, information, iPad, requesting

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Authors: Abdul Manan

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Dielectric Resonators (DRs) have revolutionized the microwave wireless communication industry globally. There are three directions for research in ceramics for application in telecommunication industry Three key properties of ceramic dielectrics that determine their functionality at microwave and millimetrewave frequencies include relative permittivity (εr), unloaded quality factor Qu- the inverse of the dielectric loss (tanδ) and temperature coefficient of resonant frequency (τf). Each direction requires specific properties. These dielectric properties are affected by a number of factors. These includes tolerance factor, onset of structural phase transitions, dark core formation, processing conditions, raw materials and impurities, order/disorder behavior, compositional ordering, porosity, humidity, grain size, orientation of the crystallites, and grain boundaries. The data related to these factors is scattered. The main purpose of this review is to bring these together and present the effects of these factors on the microwave dielectric properties. Control of these factors is important for improvement in the microwave properties. This review would be very helpful to the novice researchers and technologists in the field.

Keywords: order disorder, sintering, defect, porosity, grain boundaries

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Authors: Mafalda Moreira, Diana Alba, Inês Paiva Ferreira, Rita Calejo, Ana Rita Soares, Leonilde Machado

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Intellectual disability (ID) is characterized by deficits in intellectualfunctioningassociatedwithalterations in the adaptive behaviour, whose onset is inthedevelopmentalperiod. Itaffects 3% of the population, ofwhich 10% have a geneticaetiology. One of those causes isAlwadeiSyndrome, with 3 cases describedworldwide. It results from a homozygous nonsense mutation in theRUSC2 gene andisassociatedwithintellectualdisabilityanddysmorphic facialfeatures. Theauthorsreportthe case of a 5-year-old-boy, born to a healthymotherafter a full-termuneventfulpregnancy, thatwasreferred to Neurodevelopmentalconsultationdue toglobal developmentaldelay. Familyhistoryrevealedlearningdifficulties in the paternal brotherhood. Milddismorphicfeatureswereevidentsuch as darkinfraorbitalregion, low-set ears, beakednose, retrognathism, high-archedpalateandjointhyperlaxity. WechslerIntelligenceScale for Children III fullscaleIQ quoted 61. Karyotypeandchromosomalmicroarrayanalysiswerenormal, as well as the fragile X molecular study. DNA sequencingwasthenperformedandallowedtheidentificationof amutation in the RUSC2 gene. Theetiologicaldiagnosisof ID remains unknown in up to 80% of cases, creatinguncertainty in children’sfamilies. Theadvances in DNA sequencingtechnologieshaveincreasedourknowledgeofthegeneticdiseasesinvolved, as theAlwadeisyndromewasonlydescribedsince 2016. Thegeneticdiagnosisof ID allowsfamilygeneticcounselingandenablesthedevelopmentof target therapeutic approaches.

Keywords: intellectual disability, genetic aetiology, alwadei syndrome, RUSC2

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Authors: S. Yunus, A. Suratman, N. Mohamad Nor, M. Othman

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This paper presents the measurement and simulation results by Finite Element Method (FEM) for earth resistance (R_DC) for interconnected vertical ground rod configurations. The soil resistivity was measured using the Wenner four-pin Method, and R_DC was measured using the Fall of Potential (FOP) method, as outlined in the standard. Genetic Algorithm (GA) is employed to interpret the soil resistivity to that of a 2-layer soil model. The same soil resistivity data that were obtained by Wenner four-pin method were used in FEM for simulation. This paper compares the results of R_DC obtained by FEM simulation with the real measurement at field site. A good agreement was seen for R_DC obtained by measurements and FEM. This shows that FEM is a reliable software to be used for design of earthing systems. It is also found that the parallel rod system has a better performance compared to a similar setup using a grid layout.

Keywords: earthing system, earth electrodes, finite element method, genetic algorithm, earth resistances

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Authors: Sarah Odofin, Zhiwei Gao, Sun Kai

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Operations, maintenance and reliability of wind turbines have received much attention over the years due to rapid expansion of wind farms. This paper explores early fault diagnosis scale technique based on a unique scheme of a 5MW wind turbine system that is optimized by genetic algorithm to be very sensitive to faults and resilient to disturbances. A quantitative model based analysis is pragmatic for primary fault diagnosis monitoring assessment to minimize downtime mostly caused by components breakdown and exploit productivity consistency. Simulation results are computed validating the wind turbine model which demonstrates system performance in a practical application of fault type examples. The results show the satisfactory effectiveness of the applied performance investigated in a Matlab/Simulink/Gatool environment.

Keywords: disturbance robustness, fault monitoring and detection, genetic algorithm, observer technique

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Authors: Gopal Lamichhane, Biswash Sapkota, Grinsun Sharma, Mahendra Adhikari

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Urolithiasis is a condition in which insoluble or less soluble salts like oxalate, phosphate etc. precipitate in urinary tract and causes obstruction in ureter resulting renal colic or sometimes haematuria. It is the third most common disorder of urinary tract affecting nearly 2% of world’s population. Poor urinary drainage, microbial infection, oxalate and calcium containing diet, calciferol, hyperparathyroidism, cysteine in urine, gout, dysfunction of intestine, drought environment, lifestyle, exercise, stress etc. are risk factors for urolithiasis. Wide ranges of treatments are available in allopathic system of medicine but reoccurrence is unpreventable even with the surgical removal of stone or lithotripsy. So, people prefer alternative medicinal systems such as Unani, homeopathic, ayurvedic etc. systems of medicine due to their fewer side effects over allopathic counterpart. Different plants based ethnomedicines are being well established by their continuous effective use in human since long time in treatment of urinary problem. Many studies have scientifically proved those ethnomedicines for antiurolithiatic effect in animal and in vitro model. Plant-based remedies were found to be therapeutically effective for both prevention as well as cure of calcium oxalate urolithiasis. Plants were known to show these effects through a combination of many effects such as antioxidant, diuretic, hypocalciuric, urine alkalinizing effect in them. Berberine, triterpenoids, lupeol are the phytochemicals established for antiurolithiatic effect. Hence, plant-based medicine can be the effective herbal alternative as well as means of discovery of novel drug molecule for curing urolithiatic disorder and should be focused on further research to discover their value in coming future.

Keywords: urolithiasis, herbal medicine, ethnomedicine, kidney stone, calcium oxalate

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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: 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: 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: R. Nagarani

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An intrinsic property of software in a real-world environment is its need to evolve, which is usually accompanied by the increase of software complexity and deterioration of software quality, making software maintenance a tough problem. Refactoring is regarded as an effective way to address this problem. Many refactoring approaches at the method and class level have been proposed. But the extent of research on software refactoring at the package level is less. This work presents a novel approach to refactor the package structures of object oriented software using genetic algorithm based community detection. It uses software networks to represent classes and their dependencies. It uses a constrained community detection algorithm to obtain the optimized community structures in software networks, which also correspond to the optimized package structures. It finally provides a list of classes as refactoring candidates by comparing the optimized package structures with the real package structures.

Keywords: community detection, complex network, genetic algorithm, package, refactoring

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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: Koustav Pal, Indranil Das

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In recent times, perovskite and double perovskite (DP) systems attracts lot of interest as they provide a rich material platform for studying emergent functionalities like near-room-temperature ferromagnetic (FM) insulators, exchange bias (EB), magnetocaloric effects, colossal magnetoresistance, anisotropy, etc. These interesting phenomena emerge because of complex couplings between spin, charge, orbital, and lattice degrees of freedom in these systems. Various magnetic phenomena such as exchange bias, spin glass, memory effect, colossal magneto-resistance, etc. can be modified and controlled through antisite (B-site) disorder or controlling oxygen concentration of the material. By controlling oxygen concentration in SrFe0.5Co0.5O3 – δ (SFCO) (δ ∼ 0.3), we achieve intrinsic exchange bias effect with a large exchange bias field (∼1.482 Tesla) and giant coercive field (∼1.454 Tesla). Now we modified the B-site by introducing 10% iridium in the system. This modification give rise to the exchange bias field as high as 1.865 tesla and coercive field 1.863 tesla. Our work aims to investigate the effect of oxygen deficiency and B-site effect on exchange bias in oxide materials for potential technological applications. Structural characterization techniques including X-ray diffraction, scanning tunneling microscopy, and transmission electron microscopy were utilized to determine crystal structure and particle size. X-ray photoelectron spectroscopy was used to identify valence states of the ions. Magnetic analysis revealed that oxygen deficiency resulted in a large exchange bias due to a significant number of ionic mixtures. Iridium doping was found to break interaction paths, resulting in various antiferromagnetic and ferromagnetic surfaces that enhance exchange bias.

Keywords: coercive field, disorder, exchange bias, spin glass

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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: 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

Procedia PDF Downloads 329

Authors: Inigo de Miguel Beriain

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Genetic data of deceased persons are of great interest for both biomedical research and clinical use. This is due to several reasons. On the one hand, many of our diseases have a genetic component; on the other hand, we share genes with a good part of our biological family. Therefore, it would be possible to improve our response considerably to these pathologies if we could use these data. Unfortunately, at the present moment, the status of data on the deceased is far from being satisfactorily resolved by the EU data protection regulation. Indeed, the General Data Protection Regulation has explicitly excluded these data from the category of personal data. This decision has given rise to a fragmented legal framework on this issue. Consequently, each EU member state offers very different solutions. For instance, Denmark considers the data as personal data of the deceased person for a set period of time while some others, such as Spain, do not consider this data as such, but have introduced some specifically focused regulations on this type of data and their access by relatives. This is an extremely dysfunctional scenario from multiple angles, not least of which is scientific cooperation at the EU level. This contribution attempts to outline a solution to this dilemma through an alternative proposal. Its main hypothesis is that, in reality, health data are, in a sense, a rara avis within data in general because they do not refer to one person but to several. Hence, it is possible to think that all of them can be considered data subjects (although not all of them can exercise the corresponding rights in the same way). When the person from whom the data were obtained dies, the data remain as personal data of his or her biological relatives. Hence, the general regime provided for in the GDPR may apply to them. As these are personal data, we could go back to thinking in terms of a general prohibition of data processing, with the exceptions provided for in Article 9.2 and on the legal bases included in Article 6. This may be complicated in practice, given that, since we are dealing with data that refer to several data subjects, it may be complex to refer to some of these bases, such as consent. Furthermore, there are theoretical arguments that may oppose this hypothesis. In this contribution, it is shown, however, that none of these objections is of sufficient substance to delegitimize the argument exposed. Therefore, the conclusion of this contribution is that we can indeed build a general framework on the processing of personal data of deceased persons in the context of the GDPR. This would constitute a considerable improvement over the current regulatory framework, although it is true that some clarifications will be necessary for its practical application.

Keywords: collective data conceptual issues, data from deceased people, genetic data protection issues, GDPR and deceased people

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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: 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