Search results for: complex genetic disorder

Authors: Yue-Tzu Yang, Shu-Ching Liao

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This study presents the numerical simulation of three-dimensional incompressible steady and laminar fluid flow and conjugate heat transfer of a trapezoidal microchannel heat sink using water as a cooling fluid in a silicon substrate. Navier-Stokes equations with conjugate energy equation are discretized by finite-volume method. We perform numerical computations for a range of 50 ≦ Re ≦ 600, 0.05W ≦ P ≦ 0.8W, 20W/cm2 ≦ ≦ 40W/cm2. The present study demonstrates the numerical optimization of a trapezoidal microchannel heat sink design using the response surface methodology (RSM) and the genetic algorithm method (GA). The results show that the average Nusselt number increases with an increase in the Reynolds number or pumping power, and the thermal resistance decreases as the pumping power increases. The thermal resistance of a trapezoidal microchannel is minimized for a constant heat flux and constant pumping power.

Keywords: microchannel heat sinks, conjugate heat transfer, optimization, genetic algorithm method

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Authors: Adèle Hotte-Meunier, Lisa Sarraf, Alan Bougeard, Félicia Bernier, Chloé Voyer, Jiaxuan Deng, Stéphanie El Asmar, Alina Stamate, Marc Corbière, Patrizia Villotti, Geneviève Sauvé

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Background: Attention-Deficit/Hyperactivity Disorder (ADHD) is characterized by a persistent pattern of inattention and/or hyperactivity-impulsivity that interferes with psychosocial, educational and occupational functioning. Although often conceptualized as a developmental disorder of childhood, 65% of children with ADHD continue to meet full or partial diagnostic criteria for ADHD in adulthood and an estimated 4% of the workforce has a diagnosis of ADHD. Methods: A systematic review was conducted to understand the experiences of people living with ADHD in the workplace. Articles reporting employment outcomes for people living with were identified by a search in eight databases on four separate occasions from June 27, 2022, to June 21, 2023. A risk of bias assessment for each study was performed using the Mixed Methods Appraisal Tool (MMAT). Results: A total of 79 studies were included in this systematic review (nADHD: 68, 216). Results were synthesized into three broad overarching categories: challenges, strengths and adaptations at work. Further, nine themes were included: ADHD symptoms at work, workplace performance, job satisfaction, interpersonal relationships at work, maladaptive work thoughts and behaviors, personal strengths, embracing ADHD, person-environment fit and accommodations and support. Sex differences were highlighted as a tenth subtheme. ADHD confers both strengths and limitations related to employment. Discussion: Workers with ADHD can not only adapt but thrive in employment with the right person-environment fit, accommodations and support. Many challenges related to ADHD can be managed or remodeled as assets in a workplace environment that fosters acceptance, flexible working practices and openness to neurodiversity.

Keywords: neurodivergence, occupation, workplace, person-environment fit

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Authors: Maiko Kiyohara, Toshiki Ito

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In this study, we used a psychotherapy process for patient with dissociative disorder and the graphic Rorschach (Digital version) (GRD). A dissociative disorder is a type of dissociation characterized by multiple alternating personalities (also called alternate identity or another identity). "dissociation" is a state in which consciousness, memory, thinking, emotion, perception, behavior, body image, and so on are divided and experienced. Dissociation symptoms, such as lack of memory, are seen, and the repetition of blanks in daily events causes serious problems in life. Although the pathological mechanism of dissociation has not yet been fully elucidated, it is said that it is caused by childhood abuse or shocking trauma. In case of Japan, no reliable data has been reported on the number of patients and prevalence of dissociative disorders, no drug is compatible with dissociation symptoms, and no clear treatment has been established. GRD is a method that the author revised in 2017 to a Graphic Rorschach, which is a special technique for subjects to draw language responses when enforce Rorschach. GRD reduces the burden on both the subject and the examiner, reduces the complexity of organizing data, improves the simplicity of organizing data, and improves the accuracy of interpretation by introducing a tablet computer during the drawing reaction. We are conducting research for the purpose. The patient in this case is a woman in her 50s, and has multiple personalities since childhood. At present, there are about 10 personalities whose main personality is just grasped. The patients is raising her junior high school sons as single parent, but personal changes often occur at home, which makes the home environment inferior and economically oppressive, and has severely hindered daily life. In psychotherapy, while a personality different from the main personality has appeared, I have also conducted psychotherapy with her son. In this case, the psychotherapy process and the GRD were performed to understand the personality characteristics, and the possibility of therapeutic significance to personality integration is reported.

Keywords: GRD, dissociative disorder, a case study of psychotherapy process, dissociation

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Authors: M. D. Dogara, G. C. Afuwai, O. O. Esther, A. M. Dawai

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The geology of Northern Nigeria is under intense investigation particularly that of the northwest believed to be of the basement complex. The variability of the lithology is consistently inconsistent. Hence, the need for a close range study, it is, in view of the above that, two geophysical techniques, the vertical electrical sounding employing the Schlumberger array and seismic refraction methods, were used to delineate the geoelectric and geovelocity parameters of the basement complex of northwestern Nigeria. A total area of 400,000 m² was covered with sixty geoelectric stations established and sixty sets of seismic refraction data collected using the forward and reverse method. From the interpretation of the resistivity data, it is suggestive that the area is underlain by not more than five geoelectric layers of varying thicknesses and resistivities when a maximum half electrode spread of 100m was used. The result of the interpreted seismic data revealed two geovelocity layers, with velocities ranging between 478m/s to 1666m/s for the first layer and 1166m/s to 7141m/s for the second layer. The results of the two techniques, suggests that the area of study has an undulating bedrock topography with geoeletric and geovelocity layers composed of weathered rock materials.

Keywords: basement complex, delineation, geoelectric, geovelocity, Nigeria

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Authors: Prittesh Patel, Rushabh Shah, Krishnamurthy Ramar, Vakulbhushan Bhaskar

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The present research work aims at finding genetic differences in the genomes of sugarcane red rot isolates Colletotrichum falcatum Went using Random Amplified Polymorphic DNA (RAPD) and interspersed simple sequence repeat (ISSR) molecular markers. Ten isolates of C. falcatum isolated from different red rot infected sugarcane cultivars stalk were used in present study. The amplified bands were scored across the lanes obtained in 15 RAPD primes and 21 ISSR primes successfully. The data were analysed using NTSYSpc 2.2 software. The results showed 80.6% and 68.07% polymorphism in RPAD and ISSR analysis respectively. Based on the RAPD analysis, ten genotypes were grouped into two major clusters at a cut-off value of 0.75. Geographically distant C. falcatum isolate cfGAN from south Gujarat had a level of similarity with Coimbatore isolate cf8436 presented on separate clade of bootstrapped dendrograms. First and second cluster consisted of five and three isolates respectively, indicating the close relation among them. The 21 ISSR primers produced 119 distinct and scorable loci in that 38 were monomorphic. The number of scorable loci for each primer varied from 2 (ISSR822) to 8 (ISSR807, ISSR823 and ISSR15) with an average of 5.66 loci per primer. Primer ISSR835 amplified the highest number of bands (57), while only 16 bands were obtained by primers ISSR822. Four primers namely ISSR830, ISSR845, ISSR4 and ISSR15 showed the highest value of percentage of polymorphism (100%). The results indicated that both of the marker systems RAPD and ISSR, individually can be effectively used in determination of genetic relationship among C falcatum accessions collected from different parts of south Gujarat.

Keywords: Colletotrichum falcatum, ISSR, RAPD, Red Rot

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Authors: Anastasiia Kuptsevych, Robert J. Johnson, Olena Antonaccio, Ekaterina V. Botchkovar

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Ukraine has recently experienced one of the bloodiest conflicts taking place on the European continent. Many active duty personnel and civilians have died, and millions of people have been displaced. This situation can lead to disorder in the country characterized by acceptance of violence and crime. There is a gap in the literature addressing the issues related to attitudes towards violence resulting from war, as well as focusing on the world’s more vulnerable civilian populations – those that live in lower and middle-income countries, such as Ukraine. Using a random sample of 1200 adults from two major Ukrainian cities, this study explores the relationship between different types of war exposure (direct and vicarious) and attitudes to violence. Multivariate models reveal that multiple types of war exposure (e.g., being injured, being a witness of death, watching war events on TV) are significantly associated with the attitudes to political and interpersonal violence. In addition, the KHB decomposition procedure showed that experiencing certain mental illnesses serve as important mediating mechanisms between war exposure and attitudes towards violence. Finally, in order to prevent society from disorder and high levels of violence, future studies need to pay more attention to exploring how vital and traumatic life events can lead a population to find violent acts acceptable.

Keywords: attitudes, Ukraine, violence, war

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Authors: Ming Su, Ziqiang Mu

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This paper proposes a synthesis method for nonuniform linear antenna arrays that combine Gaussian process regression (GPR) and genetic algorithm (GA). In this method, the GPR model can be used to calculate the array radiation pattern in the presence of mutual coupling effects, and then the GA is used to optimize the excitations and locations of the elements so as to generate the desired radiation pattern. In this paper, taking a 9-element nonuniform linear array as an example and the desired radiation pattern corresponding to a Chebyshev distribution as the optimization objective, optimize the excitations and locations of the elements. Finally, the optimization results are verified by electromagnetic simulation software CST, which shows that the method is effective.

Keywords: nonuniform linear antenna arrays, GPR, GA, mutual coupling effects, active element pattern

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Authors: Ling Zhang, Feng Liu

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A matrix is called a ray pattern matrix if its entries are either 0 or a ray in complex plane which originates from 0. A ray pattern A of order n is called spectrally arbitrary if the complex matrices in the ray pattern class of A give rise to all possible nth degree complex polynomial. Otherwise, it is said to be spectrally non-arbitrary ray pattern. We call that a spectrally arbitrary ray pattern A of order n is minimally spectrally arbitrary if any nonzero entry of A is replaced, then A is not spectrally arbitrary. In this paper, we find that is not spectrally arbitrary when n equals to 4 for any θ which is greater than or equal to 0 and less than or equal to n. In this article, we give several ray patterns A(θ) of order n that are not spectrally arbitrary for some θ which is greater than or equal to 0 and less than or equal to n. by using the nilpotent-Jacobi method. One example is given in our paper.

Keywords: spectrally arbitrary, nilpotent matrix , ray patterns, sign patterns

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Authors: Biswabandhu Bankura, Srikanta Guria, Madhusudan Das

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Purpose: Thyroid peroxidase (TPO) is the key enzyme in the biosynthesis of thyroid hormones. We aimed to identify the spectrum of mutations in the TPO gene leading to hypothyroidism in the population of West Bengal to establish the genetic etiology of the disease. Methods: 200 hypothyroid patients (case) and their corresponding sex and age matched 200 normal individuals (control) were screened depending on their clinical manifestations. Genomic DNA was isolated from peripheral blood samples and TPO gene (Exon 7 to Exon 14) was amplified by PCR. The PCR products were subjected to sequencing to identify mutations. Results: Single nucleotide changes such as Glu 641 Lys, Asp 668 Asn, Thr 725 Pro, Asp 620 Asn, Ser 398 Thr, and Ala 373 Ser were found. Changes in the TPO were assayed in vitro to compare mutant and wild-type activities. Five mutants were enzymatically inactive in the guaiacol and iodide assays. This is a strong indication that the mutations are present at crucial positions of the TPO gene, resulting in inactivated TPO. Key Findings: The results of this study may help to develop a genetic screening protocol for goiter and hypothyroidism in the population of West Bengal.

Keywords: thyroid peroxidase, hypothyroidism, mutation, in vitro assay, transfection

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Authors: Biswabandhu Bankura, Srikanta Guria, Madhusudan Das

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Purpose: Thyroid peroxidase (TPO) is the key enzyme in the biosynthesis of thyroid hormones. We aimed to identify the spectrum of mutations in the TPO gene leading to hypothyroidism in the population of West Bengal to establish the genetic etiology of the disease. Methods: 200 hypothyroid patients (case) and their corresponding sex and age matched 200 normal individuals (control) were screened depending on their clinical manifestations. Genomic DNA was isolated from peripheral blood samples and TPO gene (Exon 7 to Exon 14) was amplified by PCR. The PCR products were subjected to sequencing to identify mutations. Results: Single nucleotide changes such as Glu 641 Lys, Asp 668 Asn, Thr 725 Pro, Asp 620 Asn, Ser 398 Thr, and Ala 373 Ser were found. Changes in the TPO were assayed in vitro to compare mutant and wild-type activities. Five mutants were enzymatically inactive in the guaiacol and iodide assays. This is a strong indication that the mutations are present at crucial positions of the TPO gene, resulting in inactivated TPO. Key Findings: The results of this study may help to develop a genetic screening protocol for goiter and hypothyroidism in the population of West Bengal.

Keywords: thyroid peroxidase, hypothyroidism, mutation, in vitro assay, transfection

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Authors: Kushal Patel, Manasa Dittakavi, Cyrus Falsafi, Gretchen Lovett

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Rural America has seen a surge in opioid addiction rates and overdose deaths in recent years, becoming a significant public health crisis. This may be due to a variety of factors, such as lack of access to healthcare or other economic and social factors that can contribute to addiction such as poverty, unemployment, and social isolation. As the opioid epidemic has disproportionately affected rural communities, pregnant women in these areas may be highly susceptible and face additional difficulties in facing the appropriate care they need. Opioid use disorder has many negative effects on prenatal infants. These include changes in their microbiome, mental health, neurodevelopment and cognition. These can affect how the child performs in various activities in life and how they interact with others. It has been demonstrated that using cognitive behavioral therapy improves not just pain-related results but also mobility, quality of life, disability, and mood outcomes. This indicates that cognitive behavioral therapy (CBT) may be a useful therapeutic strategy for enhancing general health and wellbeing in people with opioid use problems. In terms of treating psychiatric diseases, CBT carries fewer dangers than opioids. One study that illustrates the potential for CBT to promote a reduction in opioid use disorder used self-reported drug use patterns 6 months prior to and during their pregnancy. At the beginning of the study, participants reported an average of 3.78 drug or alcohol use days in the previous 28 days, which decreased to 1.63 days after treatment. The study also found a decrease in depression scores, as measured by IDS scores, from 23.9 to 17.1 at the end of treatment. These and other results show that CBT can have meaningful impacts on pregnant women in Rural America who struggle with an opioid use disorder. This project has been approved by the West Virginia School of Osteopathic Medicine- Office of Research and Sponsored Programs and deemed non-research scholarly work.

Keywords: appalachia, CBT, opiods, pregnancy

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Authors: Ishani Majumdar, Jaishree Paul

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Introduction: Ulcerative Colitis (UC) is an inflammatory disease of the colon resulting from an autoimmune response towards individual’s own microbiota. Excessive inflammation is characterized by hyper-activation of NFkB, a transcription factor regulating expression of various pro-inflammatory genes. The ubiquitin editing complex consisting of TNFAIP3, ITCH, RNF11 and TAX1BP1 maintains homeostatic levels of active NFkB through feedback inhibition and assembles in response to various stimuli that activate NFkB. TNFAIP3 deubiquitinates key signaling molecules involved in NFkB activation pathway. ITCH, RNF11 and TAX1BP1 provide substrate specificity, acting as adaptors for TNFAIP3 function. Aim: This study aimed to find expression of members of the ubiquitin editing complex at the transcript level in inflamed colon tissues of UC patients. Materials and Methods: Colonic biopsy samples were collected from 30 UC patients recruited at Department of Gastroenterology, AIIMS (New Delhi). Control group (n= 10) consisted of individuals undergoing examination for functional disorders. Real Time PCR was used to determine relative expression with GAPDH as housekeeping gene. Results: Expression of members of the ubiquitin editing complex was significantly altered during active disease. Expression of TNFAIP3 was upregulated while concomitant decrease in expression of ITCH, RNF11, TAX1BP1 was seen in UC patients. Discussion: This study reveals that increase in expression of TNFAIP3 was unable to control inflammation during active UC. Further, insufficient upregulation of ITCH, RNF11, TAX1BP1 may limit the formation of the ubiquitin complex and contribute to pathogenesis of UC.

Keywords: altered expression, inflammation, ubiquitin editing complex, ulcerative colitis

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Authors: Yelin Zhao, Xinxiu Li, Martin Smelik, Oleg Sysoev, Firoj Mahmud, Dina Mansour Aly, Mikael Benson

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Background: Early diagnosis of pancreatic cancer is clinically challenging due to vague, or no symptoms, and lack of biomarkers. Polygenic risk score (PRS) scores may provide a valuable tool to assess increased or decreased risk of PC. This study aimed to develop such PRS by filtering genetic variants identified by GWAS using transcriptional programs identified by single-cell RNA sequencing (scRNA-seq). Methods: ScRNA-seq data from 24 pancreatic ductal adenocarcinoma (PDAC) tumor samples and 11 normal pancreases were analyzed to identify differentially expressed genes (DEGs) in in tumor and microenvironment cell types compared to healthy tissues. Pathway analysis showed that the DEGs were enriched for hundreds of significant pathways. These were clustered into 40 “programs” based on gene similarity, using the Jaccard index. Published genetic variants associated with PDAC were mapped to each program to generate program PRSs (pPRSs). These pPRSs, along with five previously published PRSs (PGS000083, PGS000725, PGS000663, PGS000159, and PGS002264), were evaluated in a European-origin population from the UK Biobank, consisting of 1,310 PDAC participants and 407,473 non-pancreatic cancer participants. Stepwise Cox regression analysis was performed to determine associations between pPRSs with the development of PC, with adjustments of sex and principal components of genetic ancestry. Results: The PDAC genetic variants were mapped to 23 programs and were used to generate pPRSs for these programs. Four distinct pPRSs (P1, P6, P11, and P16) and two published PRSs (PGS000663 and PGS002264) were significantly associated with an increased risk of developing PC. Among these, P6 exhibited the greatest hazard ratio (adjusted HR[95% CI] = 1.67[1.14-2.45], p = 0.008). In contrast, P10 and P4 were associated with lower risk of developing PC (adjusted HR[95% CI] = 0.58[0.42-0.81], p = 0.001, and adjusted HR[95% CI] = 0.75[0.59-0.96], p = 0.019). By comparison, two of the five published PRS exhibited an association with PDAC onset with HR (PGS000663: adjusted HR[95% CI] = 1.24[1.14-1.35], p < 0.001 and PGS002264: adjusted HR[95% CI] = 1.14[1.07-1.22], p < 0.001). Conclusion: Compared to published PRSs, scRNA-seq-based pPRSs may be used not only to assess increased but also decreased risk of PDAC.

Keywords: cox regression, pancreatic cancer, polygenic risk score, scRNA-seq, UK biobank

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Authors: Joseph Wolff, Jeffrey Eilbott

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Autism Spectrum Disorders (ASD) are a spectrum of social disorders characterized by deficits in social communication, verbal ability, and interaction that can vary in severity. In recent years, researchers have used magnetic resonance imaging (MRI) to help detect how neural patterns in individuals with ASD differ from those of neurotypical (NT) controls for classification purposes. This study analyzed the classification of ASD within males and females using functional MRI data. Functional connectivity (FC) correlations among brain regions were used as feature inputs for machine learning algorithms. Analysis was performed on 558 cases from the Autism Brain Imaging Data Exchange (ABIDE) I dataset. When trained specifically on females, the algorithm underperformed in classifying the ASD subset of our testing population. Although the subject size was relatively smaller in the female group, the manual matching of both male and female training groups helps explain the algorithm’s bias, indicating the altered sex abnormalities in functional brain networks compared to typically developing peers. These results highlight the importance of taking sex into account when considering how generalizations of findings on males with ASD apply to females.

Keywords: autism spectrum disorder, machine learning, neuroimaging, sex differences

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Authors: Andrey Norov

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Based on the generalization of scientific and production experience and the latest developments of JSC “NIUIF”, the oldest (founded in September 1919) and the only Russian research institute for phosphorus-containing fertilizers, this paper shows the factors that determine the reasonable choice of a method for processing phosphate raw materials into complex fertilizers. These factors primarily include the composition of phosphate raw materials and the impurities contained in it, as well as some parameters of the process mode, wastelessness, ecofriendliness, energy saving, maximum use of the heat of chemical reactions, fire and explosion safety, efficiency, productive capacity, the required product range and the possibility of creating flexible technologies, compliance with BAT principles, etc. The presented data allow to choose the right technology for complex granular fertilizers, depending on the abovementioned factors.

Keywords: BAT, ecofriendliness, energy saving, phosphate raw materials, wastelessness

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Authors: Adrian Ionita, Ana-Maria Ghimes

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The lack of features, design and the lack of promoting an integrated booking application are some of the reasons why most online travel platforms only offer automation of old booking processes, being limited to the integration of a smaller number of services without addressing the user experience. This paper represents a practical study on how to improve travel applications creating user-profiles through data-mining based on neural networks and genetic algorithms. Choices made by users and their ‘friends’ in the ‘social’ network context can be considered input data for a recommendation engine. The purpose of using these algorithms and this design is to improve user experience and to deliver more features to the users. The paper aims to highlight a broader range of improvements that could be applied to travel applications in terms of design and service integration, while the main scientific approach remains the technical implementation of the neural network solution. The motivation of the technologies used is also related to the initiative of some online booking providers that have made the fact that they use some ‘neural network’ related designs public. These companies use similar Big-Data technologies to provide recommendations for hotels, restaurants, and cinemas with a neural network based recommendation engine for building a user ‘DNA profile’. This implementation of the ‘profile’ a collection of neural networks trained from previous user choices, can improve the usability and design of any type of application.

Keywords: artificial intelligence, big data, cloud computing, DNA profile, genetic algorithms, machine learning, neural networks, optimization, recommendation system, user profiling

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Authors: Lloyd A. Taylor

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An increase in the prevalence of Attention Deficit-Hyperactivity Disorder (ADHD) highlights the need to consider factors that may be exacerbating symptom presentation. Traditional diagnostic criteria provide a little framework for healthcare providers to consider as they attempt to diagnose and treat children with behavioral problems. In fact, aside from exclusion criteria, limited alternative considerations are available, and approaches fail to consider the impact of outside factors that could increase or decrease the likelihood of appropriate diagnosis and success of interventions. This paper will consider specific systems-based factors that influence behavior and intervention successes that, when not considered, could account for the upsurge of diagnoses. These include understanding (1) challenges in the healthcare system, (2) the influence and impact of educators and the educational system, (3) technology use, and (4) patient and parental attitudes about the diagnosis of ADHD. These factors must be considered both individually and as a whole when considering both the increase in diagnoses and the subsequent increases in prescriptions for psychostimulant medication. A theoretical model based on a risk management approach will be presented. Finally, data will be presented that demonstrates pediatric provider satisfaction with this approach to diagnoses and treatment of ADHD as it relates to practice trends.

Keywords: ADHD, diagnostic criteria, risk management model, pediatricians

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Authors: Surabhi Maiti, Prajakta Tamhankar, Prachi Uttam Mehta

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Since the accomplishment of the Human Genome Project, there has been an unparalled escalation in the sequencing of genomic data. This project has been the first major vault in the field of medical research, especially in genomics. This project won accolades by using a concept called Bigdata which was earlier, extensively used to gain value for business. Bigdata makes use of data sets which are generally in the form of files of size terabytes, petabytes, or exabytes and these data sets were traditionally used and managed using excel sheets and RDBMS. The voluminous data made the process tedious and time consuming and hence a stronger framework called Hadoop was introduced in the field of genetic sciences to make data processing faster and efficient. This paper focuses on using SPARK which is gaining momentum with the advancement of BigData technologies. Cloud Storage is an effective medium for storage of large data sets which is generated from the genetic research and the resultant sets produced from SPARK analysis.

Keywords: human genome project, Bigdata, genomic data, SPARK, cloud storage, Hadoop

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Authors: Puteri Zarina M. K., Haddi J. K., Zolkepli N., Shu M. H. B., Hosshan H., Saad M. A.

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This paper provides an overview of the current state of ESL instruction for children with autism in Malaysia. Equal rights, independence, and active participation are guaranteed by the 2006 Convention on the Rights of Persons with Disabilities. Every child is entitled to receive education in an inclusive atmosphere that embraces diversity and ensures equal opportunity for all. The primary objective of the research was to investigate if English as a Second Language (ESL) teachers employ distinct instructional methods and strategies while teaching children diagnosed with autism. Moreover, the objective was to assess the similarities in the challenges faced by teachers when teaching ESL to children with autism in Malaysia. The study aimed to increase understanding of the challenges faced by ESL teachers in teaching autistic students. The study was structured as a qualitative research endeavour. A total of twelve (12) ESL teachers from selected primary schools in Malaysia were involved in this study. The research findings accurately depict the actual state of teaching ESL to autistic children. They confirm the imperative need for additional support in order to facilitate the successful integration of these children into the educational system.

Keywords: autism spectrum disorder, ESL, inclusion, Malaysia, special educational needs

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Authors: Hesham Kozou

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Sensorineural hearing loss (SNHL) poses a significant challenge due to limited access to the inner ear for therapies. Emerging treatments such as regenerative, genetic, and pharmacotherapies offer hope for addressing this condition. This study aims to highlight the potential of cochlear implants and emerging therapies in managing sensorineural hearing loss by improving access to the inner ear. The study is conducted through a review of relevant literature and research articles in the field of cochlear implants and emerging therapies for hearing loss. It outlines how advancements in cochlear implant technologies, electrodes, and surgical techniques can facilitate the delivery of therapies to the inner ear, potentially revolutionizing the treatment of sensorineural hearing loss. The study underscores the potential of cochlear implants and emerging therapies in revolutionizing the treatment landscape for sensorineural hearing loss, emphasizing the feasibility of curing this condition by leveraging technological advancements.

Keywords: therapies for hearing loss management, future of CI as a cochlear delivery channel, regenerative, genetic and pharmacotherapeutic management of hearing loss

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Authors: Huong M. T. Nguyen, Hoa A. P. Nguyen, Mai P. T. Nguyen, Ngoc D. Ngo, Van T. Ta, Hai T. Le, Chi V. Phan

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Wilson’s disease (WD) is an autosomal recessive disorder of the copper metabolism, which is caused by a mutation in the copper-transporting P-type ATPase (ATP7B). The mechanism of this disease is the failure of hepatic excretion of copper to bile, and leads to copper deposits in the liver and other organs. The ATP7B gene is located on the long arm of chromosome 13 (13q14.3). This study aimed to investigate the gene mutation in the Vietnamese patients with WD, and make a presymptomatic diagnosis for their familial members. Forty-three WD patients and their 65 siblings were identified as having ATP7B gene mutations. Genomic DNA was extracted from peripheral blood samples; 21 exons and exon-intron boundaries of the ATP7B gene were analyzed by direct sequencing. We recognized four mutations ([R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G) in the sum of 20 detectable mutations, accounting for 87.2% of the total. Mutation S105* was determined to have a high rate (32.6%) in this study. The hotspot regions of ATP7B were found at exons 2, 16, and 8, and intron 14, in 39.6 %, 11.6 %, 9.3%, and 7 % of patients, respectively. Among nine homozygote/compound heterozygote siblings of the patients with WD, three individuals were determined as asymptomatic by screening mutations of the probands. They would begin treatment after diagnosis. In conclusion, 20 different mutations were detected in 43 WD patients. Of this number, four novel mutations were explored, including [R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G. The mutation S105* is the most prevalent and has been considered as a biomarker that can be used in a rapid detection assay for diagnosis of WD patients. Exons 2, 8, and 16, and intron 14 should be screened initially for WD patients in Vietnam. Based on risk profile for WD, genetic testing for presymptomatic patients is also useful in diagnosis and treatment.

Keywords: ATP7B gene, mutation detection, presymptomatic diagnosis, Vietnamese Wilson’s disease

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Authors: Sadra Abbasi

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The complex connection between psychological stress and the onset of different diseases has been an ongoing issue in the mental health field for a long time. Multiple studies have demonstrated that long-term stress can greatly heighten the likelihood of developing health issues like heart disease, cancer, arthritis, and severe depression. Recent research in cognitive science has provided insight into the intricate processes involved in posttraumatic stress disorder (PTSD), suggesting that distinct memory systems are accountable for both vivid reliving and normal autobiographical memories of traumatic incidents, as proposed by dual representation theory. This theory has important consequences for our comprehension of the neural mechanisms involved in fear and behavior related to threats, highlighting the amygdala-hippocampus-medial prefrontal cortex circuit as a crucial component in this process. This particular circuit, extensively researched in behavioral neuroscience, is essential for regulating the body's reactions to stress and trauma. This review will examine how incorporating a modern neuroscience viewpoint into an integrative case formulation offers a current way to comprehend the intricate connections among psychological stress, trauma, and disease.

Keywords: social, cognitive, stress, neuroscience, behavior, PTSD

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Authors: A. Chegenizadeh, M. Keramatikerman, H. Nikraz

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Bitumen is one of the most applicable materials in pavement engineering. It is a binding material with unique viscoelastic properties, especially when it mixes with polymer. In this study, to figure out the viscoelastic behaviour of the polymer modified with bitumen (PMB), a series of dynamic shearing rheological (DSR) tests were conducted. Four percentages of lime (i.e. 1%, 2%, 4% and 5%) were mixed with PMB and tested under four different temperatures including 64ºC, 70ºC, 76ºC and 82ºC. The results indicated that complex shearing modulus (G*) increased by increasing the frequency due to raised resistance against deformation. The phase angle (δ) showed a decreasing trend by incrementing the frequency. The addition of lime percentages increased the complex modulus value and declined phase angle parameter. Increasing the temperature decreased the complex modulus and increased the phase angle until 70ºC. The decreasing trend of rutting factor with increasing temperature revealed that rutting factor improved by the addition of the lime to the PMB.

Keywords: rheological properties, DSR test, polymer mixed with bitumen (PMB), complex modulus, lime

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Authors: R. Akbari, M. A. Ehyaei, R. Shahi Shavvon

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Nowadays, solar energy is used for energy purposes such as the use of thermal energy for domestic, industrial and power applications, as well as the conversion of the sunlight into electricity by photovoltaic cells. In this study, the thermodynamic simulation of the solar Rankin cycle with phase change material (paraffin) was first studied. Then energy and exergy analyses were performed. For optimization, a single and multi-objective genetic optimization algorithm to maximize thermal and exergy efficiency was used. The parameters discussed in this paper included the effects of input pressure on turbines, input mass flow to turbines, the surface of converters and collector angles on thermal and exergy efficiency. In the organic Rankin cycle, where solar energy is used as input energy, the fluid selection is considered as a necessary factor to achieve reliable and efficient operation. Therefore, silicon oil is selected for a high-temperature cycle and water for a low-temperature cycle as an operating fluid. The results showed that increasing the mass flow to turbines 1 and 2 would increase thermal efficiency, while it reduces and increases the exergy efficiency in turbines 1 and 2, respectively. Increasing the inlet pressure to the turbine 1 decreases the thermal and exergy efficiency, and increasing the inlet pressure to the turbine 2 increases the thermal efficiency and exergy efficiency. Also, increasing the angle of the collector increased thermal efficiency and exergy. The thermal efficiency of the system was 22.3% which improves to 33.2 and 27.2% in single-objective and multi-objective optimization, respectively. Also, the exergy efficiency of the system was 1.33% which has been improved to 1.719 and 1.529% in single-objective and multi-objective optimization, respectively. These results showed that the thermal and exergy efficiency in a single-objective optimization is greater than the multi-objective optimization.

Keywords: exergy analysis, genetic algorithm, rankine cycle, single and multi-objective function

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Authors: Monireh Ahmadi Bani, Adel Khorramrouz, Lalenoor Morvarid, Bagheri Mahtab

Abstract:

Background:- Foot disorders are common in musculoskeletal problems. Plantar pressure distribution measurement is one the most important part of foot disorders diagnosis for quantitative analysis. However, the association of plantar pressure and foot disorders is not clear. With the growth of dataset and machine learning methods, the relationship between foot disorders and plantar pressures can be detected. Significance of the study:- The purpose of this study was to predict the probability of common foot disorders based on peak plantar pressure distribution and center of pressure during walking. Methodologies:- 2323 participants were assessed in a foot therapy clinic between 2015 and 2021. Foot disorders were diagnosed by an experienced physician and then they were asked to walk on a force plate scanner. After the data preprocessing, due to the difference in walking time and foot size, we normalized the samples based on time and foot size. Some of force plate variables were selected as input to a deep neural network (DNN), and the probability of any each foot disorder was measured. In next step, we used support vector machine (SVM) and run dataset for each foot disorder (classification of yes or no). We compared DNN and SVM for foot disorders prediction based on plantar pressure distributions and center of pressure. Findings:- The results demonstrated that the accuracy of deep learning architecture is sufficient for most clinical and research applications in the study population. In addition, the SVM approach has more accuracy for predictions, enabling applications for foot disorders diagnosis. The detection accuracy was 71% by the deep learning algorithm and 78% by the SVM algorithm. Moreover, when we worked with peak plantar pressure distribution, it was more accurate than center of pressure dataset. Conclusion:- Both algorithms- deep learning and SVM will help therapist and patients to improve the data pool and enhance foot disorders prediction with less expense and error after removing some restrictions properly.

Keywords: deep neural network, foot disorder, plantar pressure, support vector machine

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Authors: Navab Karimi, Tohid Alizadeh

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An intelligent vision-based system was designed to measure the quality and purity of raisins. A machine vision setup was utilized to capture the images of bulk raisins in ranges of 5-50% mixed pure-impure berries. The textural features of bulk raisins were extracted using Grey-level Histograms, Co-occurrence Matrix, and Local Binary Pattern (a total of 108 features). Genetic Algorithm and neural network regression were used for selecting and ranking the best features (21 features). As a result, the GLCM features set was found to have the highest accuracy (92.4%) among the other sets. Followingly, multiple feature combinations of the previous stage were fed into the second regression (linear regression) to increase accuracy, wherein a combination of 16 features was found to be the optimum. Finally, a Support Vector Machine (SVM) classifier was used to differentiate the mixtures, producing the best efficiency and accuracy of 96.2% and 97.35%, respectively.

Keywords: sun-dried organic raisin, genetic algorithm, feature extraction, ann regression, linear regression, support vector machine, south azerbaijan.

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Authors: Péter Restás, Andrea Czibor, Zsolt Péter Szabó

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Purpose: This article aims to rethink the phenomena of employee behavior as a product of a system. Both organizational culture and Complex Adaptive Systems (CAS) theory emphasize that individual behavior depends on the specific system and the unique organizational culture. These two major theories are both represented in the field of organizational studies; however, they are rarely used together for the comprehensive understanding of workplace behavior. Methodology: By reviewing the literature we use key concepts stemming from organizational culture and CAS theory in order to show the similarities between these theories and create an enriched understanding of employee behavior. Findings: a) Workplace behavior is defined here as social cognition issue. b) Organizations are discussed here as complex systems, and cultures which drive and dictate the cognitive processes of agents in the system. c) Culture gives CAS theory a context which lets us see organizations not just as ever-changing and unpredictable, but as such systems that aim to create and maintain stability by recurring behavior. Conclusion: Applying the knowledge from culture and CAS theory sheds light on our present understanding of employee behavior, also emphasizes the importance of novel ways in organizational research and management.

Keywords: complex adaptive systems theory, employee behavior, organizational culture, stability

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Authors: M. Siedlikowski, F. Rauch, A. Tsimicalis

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Osteogenesis Imperfecta (OI) is a genetic disorder of childhood onset that causes frequent fractures after minimal physical stress. To date, OI research has focused on medically- and surgically-oriented outcomes with little attention on the perspective of the affected child. It is a challenge to elicit the child’s voice in health care, in other words, their own perspective on their symptoms, but software development offers a way forward. Sisom (Norwegian acronym derived from ‘Si det som det er’ meaning ‘Tell it as it is’) is an award-winning, rigorously tested, interactive, computerized tool that helps children with chronic illnesses express their symptoms to their clinicians. The successful Sisom software tool, that addresses the child directly, has not yet been adapted to attend to symptoms unique to children with OI. The purpose of this study was to develop a Sisom paper prototype for children with OI by seeking the perspectives of end users, particularly, children with OI and clinicians. Our descriptive qualitative study was conducted at Shriners Hospitals for Children® – Canada, which follows the largest cohort of children with OI in North America. Purposive sampling was used to recruit 12 children with OI over three cycles. Nine clinicians oversaw the development process, which involved determining the relevance of current Sisom symptoms, vignettes, and avatars, as well as generating new Sisom OI components. Data, including field notes, transcribed audio-recordings, and drawings, were deductively analyzed using content analysis techniques. Guided by the following framework, data pertaining to symptoms, vignettes, and avatars were coded into five categories: a) Relevant; b) Irrelevant; c) To modify; d) To add; e) Unsure. Overall, 70.8% of Sisom symptoms were deemed relevant for inclusion, with 49.4% directly incorporated, and 21.3% incorporated with changes to syntax, and/or vignette, and/or location. Three additions were made to the ‘Avatar’ island. This allowed children to celebrate their uniqueness: ‘Makes you feel like you’re not like everybody else.’ One new island, ‘About Me’, was added to capture children’s worldviews. One new sub-island, ‘Getting Around’, was added to reflect accessibility issues. These issues were related to the children’s independence, their social lives, as well as the perceptions of others. In being consulted as experts throughout the co-creation of the Sisom OI paper prototype, children coded the Sisom symptoms and provided sound rationales for their chosen codes. In rationalizing their codes, all children shared personal stories about themselves and their relationships, insights about their OI, and an understanding of the strengths and challenges they experience on a day-to-day basis. The child’s perspective on their health is a basic right, and allowing it to be heard is the next frontier in the care of children with genetic diseases. Sisom OI, a methodological breakthrough within OI research, will offer clinicians an innovative and child-centered approach to capture this neglected perspective. It will provide a tool for the delivery of health care in the center that established the worldwide standard of care for children with OI.

Keywords: child health, interactive computerized communication tool, participatory approach, symptom management

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Authors: Safa A. Mohammed Ali, Ammar S. Ahamed, Mohammed Khair Abdalla

Abstract:

The objectives of this study were to estimate the means and genetic parameters of birth and weaning weight of calves of pure Holstein-Friesian cows raised in Sudan. The traits studied were:*Weight at birth *Weight at weaning. The study also included some of the important factors that affected these traits. The data were analyzed using Harvey’s Least Squares and Maximum Likelihood programme. The results obtained showed that the overall mean weight at birth of the calves under study was 34.36±0.94kg. Male calves were found to be heavier than females; the difference between the sexes was highly significant (P<0.001). The mean weight at birth of male calves was 34.27±1.17 kg while that of females was 32.51±1.14kg. The effect of sex of calves, sire and parity of dam were highly significant (P<0.001). The overall mean of weight at weaning was 67.10 ± 5.05 kg, weight at weaning was significantly (p<0.001) effected by sex of calves, sire, year and season of birth have highly significant (P<0.001) effect on either trait. Also estimates heritabilities of birth weight was (0.033±0.015) lower than heritabilities of weaning weight (0.224±0.039), and genetic correlation was 0.563, the phenotypic correlation 0.281, and the environmental correlation 0.268.

Keywords: birth, weaning, weight, friesian

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Authors: Amir Abbas Fatemi, Zahra Tabrizian, Kabir Sadeghi

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To find the location and severity of damage that occurs in a structure, characteristics changes in dynamic and static can be used. The non-destructive techniques are more common, economic, and reliable to detect the global or local damages in structures. This paper presents a non-destructive method in structural damage detection and assessment using GA and static data. Thus, a set of static forces is applied to some of degrees of freedom and the static responses (displacements) are measured at another set of DOFs. An analytical model of the truss structure is developed based on the available specification and the properties derived from static data. The damages in structure produce changes to its stiffness so this method used to determine damage based on change in the structural stiffness parameter. Changes in the static response which structural damage caused choose to produce some simultaneous equations. Genetic Algorithms are powerful tools for solving large optimization problems. Optimization is considered to minimize objective function involve difference between the static load vector of damaged and healthy structure. Several scenarios defined for damage detection (single scenario and multiple scenarios). The static damage identification methods have many advantages, but some difficulties still exist. So it is important to achieve the best damage identification and if the best result is obtained it means that the method is Reliable. This strategy is applied to a plane truss. This method is used for a plane truss. Numerical results demonstrate the ability of this method in detecting damage in given structures. Also figures show damage detections in multiple damage scenarios have really efficient answer. Even existence of noise in the measurements doesn’t reduce the accuracy of damage detections method in these structures.

Keywords: damage detection, finite element method, static data, non-destructive, genetic algorithm

Procedia PDF Downloads 237