Search results for: preimplantation genetic screening
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 2708

Search results for: preimplantation genetic screening

1388 An Investigation of Pain and Life Satisfaction in Elderly Individuals in Turkey

Authors: Senay Karadag Arli, Ayse Berivan Bakan, Ela Varol, Gulpinar Aslan

Abstract:

Objective: This study aims to investigate pain and life satisfaction in elderly individuals. Methods: This study, which is descriptive in nature, utilized relational screening model. It was conducted between September 2016 and March 2017, with 387 people aged 65 and over who were registered in Family Health Centers in Ağrı, a city located in eastern Turkey. Results: The Geriatric Pain Measure mean score of the participants was 53.23 ± 29.40, indicating moderate pain. The Life Satisfaction Scale mean score was found 8.50 ± 5.34, indicating moderate life satisfaction level. The study also found a statistically significant, negative relationship between life satisfaction and geriatric pain. Conclusion: Increase in elderly population brings along various health problems. Results of this study show that the rate of chronic diseases is very high in elderly individuals. Therefore, pain is one of the most frequently encountered health problems, and it has negative effects on life satisfaction. In conclusion, it is considered that elderly people’s life satisfaction could increase if their pain is identified and reduced effectively.

Keywords: geriatric pain measure, life satisfaction, pain, Turkey

Procedia PDF Downloads 296
1387 Transfer Rate of Organic Water Contaminants through a Passive Sampler Membrane of Polyethersulfone (PES)

Authors: Hamidreza Sharifan, Audra Morse

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Accurate assessments of contaminant concentrations based on traditional grab sampling methods are not always possible. Passive samplers offer an attractive alternative to traditional sampling methods that overcomes these limitations. The POCIS approach has been used as a screening tool for determining the presence/absence, possible sources and relative amounts of organic compounds at field sites. The objective for the present research is on mass transfer of five water contaminants (atrazine, caffeine, bentazon, ibuprofen, atenolol) through the Water Boundary Layer (WBL) and membrane. More specific objectives followed by establishing a relationship between the sampling rate and water solubility of the compounds, as well as comparing the molecular weight of the compounds and concentration of the compounds at the time of equilibrium. To determine whether water boundary layer effects transport rate through the membrane is another main objective in this paper. After GC mass analysis of compounds, regarding the WBL effect in this experiment, Sherwood number for the experimental tank developed. A close relationship between feed concentration of compound and sampling rate has been observed.

Keywords: passive sampler, water contaminants, PES-transfer rate, contaminant concentrations

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1386 Giving Children with Osteogenesis Imperfecta a Voice: Overview of a Participatory Approach for the Development of an Interactive Communication Tool

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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1385 Research and Development of Intelligent Cooling Channels Design System

Authors: Q. Niu, X. H. Zhou, W. Liu

Abstract:

The cooling channels of injection mould play a crucial role in determining the productivity of moulding process and the product quality. It’s not a simple task to design high quality cooling channels. In this paper, an intelligent cooling channels design system including automatic layout of cooling channels, interference checking and assembly of accessories is studied. Automatic layout of cooling channels using genetic algorithm is analyzed. Through integrating experience criteria of designing cooling channels, considering the factors such as the mould temperature and interference checking, the automatic layout of cooling channels is implemented. The method of checking interference based on distance constraint algorithm and the function of automatic and continuous assembly of accessories are developed and integrated into the system. Case studies demonstrate the feasibility and practicality of the intelligent design system.

Keywords: injection mould, cooling channel, intelligent design, automatic layout, interference checking

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1384 Investigating the Expression of NR1/NR2 Receptors in Boys Between 6 to 16 with ADHD Compared to a Healthy Controlled Group

Authors: Sajad Haghshenas

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Emerging evidence from clinical, genetic, and animal model studies suggests that the N-methyl-D-aspartate (NMDA) glutamate receptors (NMDAR) may contribute to the pathophysiology and aetiology of neurological and psychiatric disorders and the patients with impaired NMDR receptors experience psychological symptoms. Therefore, we hypothesised that NMDAR receptors play a key role in the development of attention deficit hyperactivity disorder (ADHD). In this comparative analytical study, we utilized western blotting method to assay the expression levels of NMDA subunits NR1 and NR2 in the blood plasma of 50 male individuals diagnosed with ADHD in comparison to 20 healthy controls. The findings from the western blotting analysis provide support for the hypothesis that individuals with ADHD exhibit significantly lower levels of NR1/2 receptors compared to those without the disorder. Further research is needed to explore the potential causal relationship between reduced NR1/NR2 receptor levels and the development of ADHD.

Keywords: expression, glutamate receptors, NR1, NR2, ADHD

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1383 Locating the Davao Film Culture: An Exploration of the Relationship of Geography and the Cinema of a Regional City Center

Authors: Sarah Isabelle Torres

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Using Lefebvre’s (1991) Spatial Triad, this study explores the relationship of geography and cinema and asks the question: how does geography shape the film culture of a regional city center located at the periphery of a country’s capital? This research aims to locate the contemporary film scene of the city in question, Davao City, Mindanao through contextualizing the politics and culture of its tri-people. This study shows that primarily because of local filmmakers' affection and sense of place, progressive films focusing on the tri-people and their struggles mainly due to issues on land have been born. To further understand the city’s film culture, this study maps the following areas: 1) filmmakers and cineastes, 2) films, 3) film festivals, 4) financial stakeholders, 5) institutions, and 6) screening places. From these, the researcher learned that although the local film community has established itself for decades, problems on audience, funding, and institutional support continue to persist. Aside from mapping, this study also explores Davao’s political, economic, and cultural position within the regional and the national arenas.

Keywords: cinema studies, Davao City, film culture, geography, Philippines, place, regional cinema, space

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1382 Genomic Analysis of Whole Genome Sequencing of Leishmania Major

Authors: Fatimazahrae Elbakri, Azeddine Ibrahimi, Meryem Lemrani, Dris Belghyti

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Leishmaniasis represents a major public health problem because of the number of cases recorded each year and the wide distribution of the disease. It is a parasitic disease of flagellated protozoa transmitted by the bite of certain species of sandfly, causing a spectrum of clinical pathology in humans ranging from disfiguring skin lesions to fatal visceral leishmaniasis. Cutaneous leishmaniasis due to Leishmania major is a polymorphic disease; in fact, the infection can be asymptomatic, localized, or disseminated. The objective of this work is to determine the genomic diversity that contributes to clinical variability by trying to identify the variation in chromosome number and to extract SNPs and SNPs and InDels; it is based on four sequences (WGS) of Leishmania major available on NCBI in Fastq form, from three countries: Tunisia, Algeria, and Israel, the analysis is set up from a pipeline to facilitate the discovery of genetic diversity, in particular SNP and chromosomal somy.

Keywords: Leshmania major, cutaneous Leishmania, NGS, genomic, somy, variant calling

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1381 The Association of Estrogen Receptor Alpha Xbai Gg Genotype and Severe Preeclampsia

Authors: Saeedeh Salimi, Farzaneh Farajian- Mashhadi, Ehsan Tabatabaei, Mahnaz Shahrakipoor, Minoo Yaghmaei, Mojgan Mokhtari

Abstract:

Purpose: Estrogen receptor-α (ERα) plays an essential role in the adaptation of increased uterine blood flow during gestation. Therefore ERα gene could be a possible candidate for preeclampsia(PE) susceptibility. In the current study, we aimed to investigate the association of the ERα gene polymorphisms and PE in an Iranian population. Methods: One hundred ninety-two pregnant women with PE and 186 normotensive women were genotyped for ERα gene (PvuII and XbaI) polymorphisms by PCR-RFLP method. Results: The frequency of alleles and genotypes of ERα PvuII and XbaI polymorphisms were not different between PE and normotensive control women. However, higher frequency of GG genotype was observed in women with severe PE compared to mild PE (OR, 1.8 [95% CI, 1.1 to 3]; P = 0.02) and in severe PE compared to normotensive women [OR= 1.8(1.1-3), P=0.02] after adjusting for age, ethnicity and primiparity. Conclusions: The GG genotype of ERα XbaI polymorphism could be a genetic risk factor for PE predisposition.

Keywords: estrogen receptor-α, polymorphism, gene, preeclampsia

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1380 Cooperative Spectrum Sensing Using Hybrid IWO/PSO Algorithm in Cognitive Radio Networks

Authors: Deepa Das, Susmita Das

Abstract:

Cognitive Radio (CR) is an emerging technology to combat the spectrum scarcity issues. This is achieved by consistently sensing the spectrum, and detecting the under-utilized frequency bands without causing undue interference to the primary user (PU). In soft decision fusion (SDF) based cooperative spectrum sensing, various evolutionary algorithms have been discussed, which optimize the weight coefficient vector for maximizing the detection performance. In this paper, we propose the hybrid invasive weed optimization and particle swarm optimization (IWO/PSO) algorithm as a fast and global optimization method, which improves the detection probability with a lesser sensing time. Then, the efficiency of this algorithm is compared with the standard invasive weed optimization (IWO), particle swarm optimization (PSO), genetic algorithm (GA) and other conventional SDF based methods on the basis of convergence and detection probability.

Keywords: cognitive radio, spectrum sensing, soft decision fusion, GA, PSO, IWO, hybrid IWO/PSO

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1379 Integrating AI into Breast Cancer Diagnosis: Aligning Perspectives for Effective Clinical Practice

Authors: Mehrnaz Mostafavi, Mahtab Shabani, Alireza Azani, Fatemeh Ghafari

Abstract:

Artificial intelligence (AI) can transform breast cancer diagnosis and therapy by providing sophisticated solutions for screening, imaging interpretation, histopathological analysis, and treatment planning. This literature review digs into the many uses of AI in breast cancer treatment, highlighting the need for collaboration between AI scientists and healthcare practitioners. It emphasizes advances in AI-driven breast imaging interpretation, such as computer-aided detection and diagnosis (CADe/CADx) systems and deep learning algorithms. These have shown significant potential for improving diagnostic accuracy and lowering radiologists' workloads. Furthermore, AI approaches such as deep learning have been used in histopathological research to accurately predict hormone receptor status and categorize tumor-associated stroma from regular H&E stains. These AI-powered approaches simplify diagnostic procedures while providing insights into tumor biology and prognosis. As AI becomes more embedded in breast cancer care, it is crucial to ensure its ethical, efficient, and patient-focused implementation to improve outcomes for breast cancer patients ultimately.

Keywords: breast cancer, artificial intelligence, cancer diagnosis, clinical practice

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1378 An Improved C-Means Model for MRI Segmentation

Authors: Ying Shen, Weihua Zhu

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Medical images are important to help identifying different diseases, for example, Magnetic resonance imaging (MRI) can be used to investigate the brain, spinal cord, bones, joints, breasts, blood vessels, and heart. Image segmentation, in medical image analysis, is usually the first step to find out some characteristics with similar color, intensity or texture so that the diagnosis could be further carried out based on these features. This paper introduces an improved C-means model to segment the MRI images. The model is based on information entropy to evaluate the segmentation results by achieving global optimization. Several contributions are significant. Firstly, Genetic Algorithm (GA) is used for achieving global optimization in this model where fuzzy C-means clustering algorithm (FCMA) is not capable of doing that. Secondly, the information entropy after segmentation is used for measuring the effectiveness of MRI image processing. Experimental results show the outperformance of the proposed model by comparing with traditional approaches.

Keywords: magnetic resonance image (MRI), c-means model, image segmentation, information entropy

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1377 Linear Array Geometry Synthesis with Minimum Sidelobe Level and Null Control Using Taguchi Method

Authors: Amara Prakasa Rao, N. V. S. N. Sarma

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This paper describes the synthesis of linear array geometry with minimum sidelobe level and null control using the Taguchi method. Based on the concept of the orthogonal array, Taguchi method effectively reduces the number of tests required in an optimization process. Taguchi method has been successfully applied in many fields such as mechanical, chemical engineering, power electronics, etc. Compared to other evolutionary methods such as genetic algorithms, simulated annealing and particle swarm optimization, the Taguchi method is much easier to understand and implement. It requires less computational/iteration processing to optimize the problem. Different cases are considered to illustrate the performance of this technique. Simulation results show that this method outperforms the other evolution algorithms (like GA, PSO) for smart antenna systems design.

Keywords: array factor, beamforming, null placement, optimization method, orthogonal array, Taguchi method, smart antenna system

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1376 The Delaying Influence of Degradation on the Divestment of Gas Turbines for Associated Gas Utilisation: Part 1

Authors: Mafel Obhuo, Dodeye I. Igbong, Duabari S. Aziaka, Pericles Pilidis

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An important feature of the exploitation of associated gas as fuel for gas turbine engines is a declining supply. So when exploiting this resource, the divestment of prime movers is very important as the fuel supply diminishes with time. This paper explores the influence of engine degradation on the timing of divestments. Hypothetical but realistic gas turbine engines were modelled with Turbomatch, the Cranfield University gas turbine performance simulation tool. The results were deployed in three degradation scenarios within the TERA (Techno-economic and environmental risk analysis) framework to develop economic models. An optimisation with Genetic Algorithms was carried out to maximize the economic benefit. The results show that degradation will have a significant impact. It will delay the divestment of power plants, while they are running less efficiently. Over a 20 year investment, a decrease of $0.11bn, $0.26bn and $0.45bn (billion US dollars) were observed for the three degradation scenarios as against the clean case.

Keywords: economic return, flared associated gas, net present value, optimization

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1375 Molecular Screening of Piroplasm from Ticks Collected from Sialkot, Gujranwala and Gujarat Districts of Punjab, Pakistan

Authors: Mahvish Maqbool, Muhmmad Sohail Sajid

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Ticks (Acari: Ixodidae); bloodsucking parasites of domestic animals, have significant importance in the transmission of diseases and causing huge economic losses. This study aimed to screen endophilic ticks for the Piroplasms using polymerase chain reaction in three districts Sialkot, Gujranwala and Gujarat of Punjab, Pakistan. Ticks were dissected under a stereomicroscope, and internal organs (midguts& salivary glands) were procured to generate pools of optimum weights. DNA extraction was done through standard protocol followed by primer specific PCR for Piroplasma spp. A total of 22.95% tick pools were found positive for piroplasma spp. In districts, Sialkot and Gujranwala Piroplasma prevalence are higher in riverine animals while in Gujarat Prevalence is higher in non-riverine animals. Female animals were found more prone to piroplasma as compared to males. This study will provide useful data on the distribution of Piroplasma in the vector population of the study area and devise future recommendations for better management of ruminants to avoid subclinical and clinical infections and vector transmitted diseases.

Keywords: babesia, hyalomma, piroplasmposis, tick infectivity

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1374 Post-traumatic Checklist-5 (PCL-5) Psychometric Properties: Across Sectional Study Among Lebanese Population

Authors: Fadwa Alhalaiqa, Othman Alfuqaha, Anas H. Khalifeh, Mahmoud Alsaraireh, Rami Masa’Deh, Natija S Manaa

Abstract:

Background: Post-traumatic stress disorders (PTSD) usually occur after traumatic occurrences that exceed the range of common human experience. This study aimed to test the psychometric properties of PCL-5 checklist for the 20 PTSD symptoms from DSM-5 among Lebanese population and to identify the prevalence of PTSD. Methods: A cross sectional survey of PCL5 among 950 Lebanese using the online survey platform by Google form was conducted. Snowball recruitment was used to identify participants for the survey. STROBE guideline was used in reporting the current study. Results: Face content, construct, discriminant, and convergent validity had been accomplished of PCL-5. The reliability by Cronbach alpha, composite, and average variance extracted were set superior. We found also that more than half of the participants (55.6%) scored 33 or above, which is the cutoff score for a likely diagnosis of PTSD. Conclusion: The current study provides further support for the Arabic version PCL-5 validity and reliability among non-Western populations. This support using this tool in the screening of PTSD.

Keywords: post traumatic stress disorder, psychometric properties, stress, adult population

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1373 Exploring Structure of Human Chromosomes Using Fluorescence Lifetime Imaging

Authors: A. Bhartiya, S. Botchway, M. Yusuf, I. Robinson

Abstract:

Chromatin condensation is maintained by DNA-based proteins and some divalent cations (Mg²⁺, Ca²⁺, etc.). Condensation process during cell division maintains structural and functional organizations of chromosomes by transferring genetic information correctly to daughter cells. Fluorescence Lifetime Imaging (FLIM) technique measures the fluorescence decay of fixed human chromosomes by calculating the lifetime of fluorophores at a pixel x of the arrival of each photon as a function of time delay t, following excitation with a laser pulse. Fixed metaphase human chromosomes were labelled with DNA-binding dye, DAPI and later DAPI fluorescence lifetime measured using multiphoton microscopy. 5 out of 23 pairs of human chromosomes shown shorter lifetime at the centromere region, differentiating proportion of compaction along the length of chromosomes. Different lifetime was observed in a condensed and de-condensed chromosome. It clearly indicates the involvement of divalent cations in the process of condensation.

Keywords: divalent cations, FLIM (Fluorescence Lifetime Imaging), human chromosomes, multiphoton microscopy

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1372 Effects of Auditory Brainstem Response (ABR) on Measuring Children’s Auditory Functions: An Experimental Investigation

Authors: Sadeq Al Yaari, Nassr Almaflehi, Ayman Al Yaari, Montaha Al Yaari, Aayah Al Yaari, Adham Al Yaari, Sajedah Al Yaari

Abstract:

Background: Measuring hearing functional capabilities by Auditory Brainstem Responses (ABR) may contribute to better treatment and possible differences in this process may have important clinical implications. Objectives: To measure the validity and reliability of ABR through screening, estimating, and intraoperative monitoring of auditory capabilities of Arab infants and children and the degree of their seriousness. Design: Pre-and-posttest was administered to measure the validity and reliability of ABR. Participants: The subjects of the present study are sixty (60) individuals. The study classified them into two groups: Infants (N=30, ages range between 0-40 weeks) and children (N=30, ages range between 10 months and -3 years) diagnosed with auditory problems. Procedures: The ABR pre- and posttest measurement was administered over two weeks. The outcomes were neuropsycholinguistically and statistically analyzed. Results: The results of the pre-and-posttest for both infants and children did not vary significantly. Also consistent with expectations, higher scores were not registered for the infants’ measurements due to age factors. The findings from this study largely indicate that ABR is valid and reliable.

Keywords: auditory, brainstem, response, children, measurement, function, experimental study

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1371 COVID-19 Genomic Analysis and Complete Evaluation

Authors: Narin Salehiyan, Ramin Ghasemi Shayan

Abstract:

In order to investigate coronavirus RNA replication, transcription, recombination, protein processing and transport, virion assembly, the identification of coronavirus-specific cell receptors, and polymerase processing, the manipulation of coronavirus clones and complementary DNAs (cDNAs) of defective-interfering (DI) RNAs is the subject of this chapter. The idea of the Covid genome is nonsegmented, single-abandoned, and positive-sense RNA. When compared to other RNA viruses, its size is significantly greater, ranging from 27 to 32 kb. The quality encoding the enormous surface glycoprotein depends on 4.4 kb, encoding a forcing trimeric, profoundly glycosylated protein. This takes off exactly 20 nm over the virion envelope, giving the infection the appearance-with a little creative mind of a crown or coronet. Covid research has added to the comprehension of numerous parts of atomic science as a general rule, like the component of RNA union, translational control, and protein transport and handling. It stays a fortune equipped for creating startling experiences.

Keywords: covid-19, corona, virus, genome, genetic

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1370 2-Thioimidazole Analogues: Synthesis, in silico Studies and in vitro Anticancer and Antiprotozoal Evaluation

Authors: Drashti G. Daraji, Rosa E. Moo-Puc, Hitesh D. Patel

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Substituted 2-Thioimidazole analogues have been synthesized and confirmed by advanced spectroscopic techniques. Among them, ten compounds have been selected and evaluated for their in vitro anti-cancer activity at the National Cancer Institute (NCI) for testing against a panel of 60 different human tumor cell lines derived from nine neoplastic cancer types. Furthermore, synthesized compounds were tested for their in vitro antiprotozoal activity, and none of them exhibited significant potency against antiprotozoans. It was observed that the tested all compounds seem effective on the UACC-62 melanoma cancer cell line as compared to other cancer cell lines and also exhibited the least potent in the Non-Small Cell Lung Cancer cell line in one-dose screening. In silico studies of these derivatives were carried out by molecular docking techniques and Absorption, Distribution, Metabolism, and Excretion (ADME) using Schrödinger software to find potent B-Raf kinase inhibitor (PDB ID: 3OG7). All the compounds have been performed for docking study; Compound D4 has a good docking score for melanoma cancer as compared with other.

Keywords: anticancer activity, cancer cell line, 2-thio imidazole, one-dose assay, molecular docking

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1369 Understanding Parental Style and Its Effect on the Wellbeing of Adolescents with Epilepsy

Authors: Arthy Vinayakam, Emilda Judith Ezhil Rajan

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Adolescents with epilepsy living in developing country like India face many difficulties on stigma towards the disease. The psychological wellbeing of adolescents who are living with epilepsy has a varied influence on their daily activities and decision-making. Parental involvement with adolescents has always been a subject of caution. The dynamics in adolescents with epilepsy is much varied as their parental aspects has been known to have an impact on their education, socialization and wellbeing. The current study aims to identify the effect of parental styles, how they tend to effect the perception of self-concept that relate to the stigma in adolescents with epilepsy. A sample of 30 adolescents with epilepsy and their parents were taken; a control group of 30 adolescents and their parents were also taken. The General Health Questionnaire -12 was used as a screening for both groups to be included in the study. Parents were evaluated with Parenting Practices Questionnaire (PPQ). Adolescents were administered the Epilepsy Stigma Scale (ESS), Rosenberg Self-esteem Scale (RSS) and Adolescent Wellbeing Scale (AWS). Descriptive statistics was used to analyze the data. The findings of the study highlight the challenges of both parent and their influence on adolescent’s wellbeing. The findings also establish the impact of parenting style on the stigma in adolescents having epilepsy and how this influences their self-concept whereby their emotional strength.

Keywords: epilepsy, parenting style, stigma, wellbeing

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1368 Previously Undescribed Cardiac Abnormalities in Two Unrelated Autistic Males with Causative Variants in CHD8

Authors: Mariia A. Parfenenko, Ilya S. Dantsev, Sergei V. Bochenkov, Natalia V. Vinogradova, Olga S. Groznova, Victoria Yu. Voinova

Abstract:

Introduction: Autism is the most common neurodevelopmental disorder. Autism is characterized by difficulties in social interaction and adherence to stereotypic behavioral patterns and frequently co-occurs with epilepsy, intellectual disabilities, connective tissue disorders, and other conditions. CHD8 codes for chromodomain-helicase-DNA-binding protein 8 - a chromatin remodeler that regulates cellular proliferation and neurodevelopment in embryogenesis. CHD8 is one of the genes most frequently involved in autism. Patients and methods: 2 unrelated male patients, P3 and P12, aged 3 and 12 years old, underwent whole genome sequencing, which determined that they both had different likely pathogenic variants, both previously undescribed in literature. Sanger sequencing later determined that P12 inherited the variant from his affected mother. Results: P3 and P12 presented with autism, a developmental delay, ataxia, sleep disorders, overgrowth, and macrocephaly, as well as other clinical features typically present in patients with causative variants in CHD8. The mother of P12 also has autistic traits, as well as ataxia, hypotonia, sleep disorders, and other symptoms. However, P3 and P12 also have different cardiac abnormalities. P3 had signs of a repolarization disorder: a flattened T wave in the III and aVF derivations and a negative T wave in the V1-V2 derivations. He also had structural valve anomalies with associated regurgitation, local contractility impairment of the left ventricular, and diastolic dysfunction of the right ventricle. Meanwhile, P12 had Wolff-Parkinson-White syndrome and underwent radiofrequency ablation at the age of 2 years. At the time of observation, P12 had mild sinus arrhythmia and an incomplete right bundle branch block, as well as arterial hypertension. Discussion: Cardiac abnormalities were not previously reported in patients with causative variants in CHD8. The underlying mechanism for the formation of those abnormalities is currently unknown. However, the two hypotheses are either a disordered interaction with CHD7 – another chromodomain remodeler known to be directly involved in the cardiophenotype of CHARGE syndrome – a rare condition characterized by coloboma, heart defects and growth abnormalities, or the disrupted functioning of CHD8 as an A-Kinase Anchoring Protein, which are known to modulate cardiac function. Conclusion: We observed 2 unrelated autistic males with likely pathogenic variants in CHD8 that presented with typical symptoms of CHD8-related neurodevelopmental disorder, as well as cardiac abnormalities. Cardiac abnormalities have, until now, been considered uncharacteristic for patients with causative variants in CHD8. Further accumulation of data, including experimental evidence of the involvement of CHD8 in heart formation, will elucidate the mechanism underlying the cardiophenotype of those patients. Acknowledgements: Molecular genetic testing of the patients was made possible by the Charity Fund for medical and social genetic aid projects «Life Genome.»

Keywords: autism spectrum disorders, chromodomain-helicase-DNA-binding protein 8, neurodevelopmental disorder, cardio phenotype

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1367 Educating Children Who Are Deaf and Hearing Impaired in Southern Africa: Challenges and Triumphs

Authors: Emma Louise McKinney

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There is a global move to integrate children who are Deaf and Hearing Impaired into regular classrooms with their hearing peers with an inclusive education framework. This paper examines the current education situation for children who are Deaf and Hearing Impaired in South Africa, Madagascar, Malawi, Zimbabwe, and Namibia. Qualitative data for this paper was obtained from the author’s experiences working as the Southern African Education Advisor for an international organization funding disability projects. It examines some of the challenges facing these children and their teachers relating to education. Challenges include cultural stigma relating to disability and deafness, a lack of hearing screening and early identification of deafness, schools in rural areas, special schools, specialist teacher training, equipment, understanding of how to implement policy, support, appropriate teaching methodologies, and sign language training and proficiency. On the other hand, in spite of the challenges some teachers are able to provide quality education to children who are Deaf and Hearing Impaired. This paper examines both the challenges as well as what teachers are doing to overcome these.

Keywords: education of children who are deaf and hearing impaired, Southern African experiences, challenges, triumphs

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1366 Phylogenetic Relationships of the Malaysian Primates Cercopithecine Based on COI Gene Sequences

Authors: B. M. Md-Zain, N. A. Rahman, M. A. B. Abdul-Latiff, W. M. R. Idris

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We conducted molecular research to portray phylogenetic relationships of Malaysian primates particularly in the genus of Macaca. We have sequenced cytochrome C oxidase subunit I (COI) of mitochondrial DNA of several individuals from M. fascicularis and M. arctoides. PCR amplifications were performed and COI DNA sequences were aligned using ClustalW. Phylogenetic trees were constructed using distance analyses by employing neighbor-joining algorithm (NJ). We managed to sequence 700 bp of COI DNA sequences. The tree topology showed that M. fascicularis did not clump based on phyleogeography division in Peninsular Malaysia. Individuals from Negeri Sembilan merged together with samples from Perak and Penang into one clade. In addition, phylogenetic analyses indicated that M. arctoides was classified into sinica group instead of fascicularis group supported by genetic distance data. COI gene is an effective locus to clarify phylogenetic position of M. arctoides but not in discriminating M. fascicularis population in Peninsular Malaysia.

Keywords: cercopithecine, long-tailed macaque, Macaca fascicularis, Macaca arctoides

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1365 Assessment of Radiological Dose for Th-232 Laboratory Accumulated in Tropical Freshwater Fish

Authors: Zal U’yun Wan Mahmood, Norfaizal Mohamed, Nita Salina Abu Bakar, Yii Mei Wo, Abdul Kadir Ishak, Mohamad Noh Sawon, Mohd Tarmizi Ishak, Khairul Nizam Razali

Abstract:

The study of thorium radiotracer bioaccumulation in the whole body tropical freshwater fish (Anabas testudeneus; climb pearch) was performed. The objective of this study was to evaluate the effect of different Th-232 activity concentration andradiological dose in Anabas testudeneus under the laboratory bioaccumulation condition. Anabas testudeneus adults were exposed to different waterborne Th-232 levels: 0 BqL-1 (control), 50 BqL-1, 100 BqL-1,150 BqL-1and 200 BqL-1for 30 days. Radionuclide concentration ratios between the whole body levels and water levels were calculated and; total dose rates and risk quotients using ERICA Assessment Tool were also estimated. The results showed the increase of waterborne Th-232 concentration corresponded to a progressive decrease of Th concentration ratio. Meanwhile, the total dose rate (internal and external) in the whole body of Anabas testudeneus less than the ERICA dose rate screening value of 10 µGyh-1 and the risk quotient less than one. Thus, the findings can be concluded that the radiological dose of Th-232 to Anabas testudeneus is a very low probability and the situation may be considered to be of negligible radiological concern.

Keywords: Anabas testudeneus, bioaccumulation, radiological dose, Th-232

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1364 Investigation of the Recycling of Geopolymer Cement Wastes as Fine Aggregates in Mortar Mixes

Authors: Napoleana-Anna Chaliasou, Andrew Heath, Kevin Paine

Abstract:

Fly ash-slag based Geopolymer Cement (GPC) is presenting mechanical properties and environmental advantages that make it the predominant “green” alternative to Portland Cement (PC). Although numerous life-cycle analyses praising its environmental advantages, disposal after the end of its life remains as an issue that has been barely explored. The present study is investigating the recyclability of fly ash-slag GPC as aggregate in mortars. The purpose of the study was to evaluate the effect of GPC fine Recycled Aggregates (RA), at replacement levels of 25% and 50%, on the main mechanical properties of PC and GPC mortar mixes. The results were compared with those obtained by corresponding mixes incorporating natural and PC-RA. The main physical properties of GPC-RA were examined and proven to be comparable to those of PC-RA and slightly inferior to those of natural sand. A negligible effect was observed at 28-day compressive and flexural strength of PC mortars with GPC aggregates having a milder effect than PC. As far as GPC mortars are concerned, the influence of GPC aggregates was enhancing for the investigated mechanical properties. Additionally, a screening test showed that recycled geopolymer aggregates are not prone of inducing alkali silica reaction.

Keywords: concrete recycling, geopolymer cement, fly ash, construction wastes

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1363 The Role of ALDH2 Genotypes in Bipolar II Disorder Comorbid with Anxiety Disorder

Authors: Yun-Hsuan Chang, Chih-Chun Huang, Ru-Band Lu

Abstract:

Dopamine, metabolized to 3,4-dihydroxyphenylacetic acid (DOPAC) by aldehyde dehydrogenase 2 (ALDH2), ALDH2*1/*1, and ALDH2*1/*2+ALDH*2/*2 equally carried in Han Chinese. The relationship between dopamine metabolic enzyme and cognitive performance in bipolar II disorder comorbid with anxiety disorder (AD) remains unclear. This study proposed to explore the association between ALDH2 polymorphisms, anxiety comorbidity in bipolar II disorder. One hundred and ninety-seven BPII with or without AD comorbidity were recruited and compared with 130 Health controls (HC). A polymerase chain reaction and restriction fragment length polymorphism analysis was used to determine genotypes for ALDH2, and neuropsychological battery was performed. Two factor analyses with AD comorbidity and ALDH2 showed a significant main effect of ALDH2 on attention and marginally significant interaction between AD and ALDH2 memory performance. The ALDH2 polymorphisms may play a different role in the neuropsychological performance on varied neuropsychological performance in BPII comorbid with and without AD.

Keywords: anxiety disorder, bipolar II disorder, comorbidity, genetic

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1362 Population Diversity of Dalmatian Pyrethrum Based on Pyrethrin Content and Composition

Authors: Filip Varga, Nina Jeran, Martina Biosic, Zlatko Satovic, Martina Grdisa

Abstract:

Dalmatian pyrethrum (Tanacetum cinerariifolium /Trevir./ Sch. Bip.), a species endemic to the eastern Adriatic coastline, is the source of natural insecticide pyrethrin. Pyrethrin is a mixture of six compounds (pyrethrin I and II, cinerin I and II, jasmolin I and II) that exhibits high insecticidal activity with no detrimental effects to the environment. A recently optimized matrix-solid phase dispersion method (MSPD), using florisil as the sorbent, acetone-ethyl acetate (1:1, v/v) as the elution solvent, and sodium sulfate anhydrous as the drying agent was utilized to extract the pyrethrins from 10 wild populations (20 individuals per population) distributed along the Croatian coast. All six components in the extracts were qualitatively and quantitatively determined by high-performance liquid chromatography with a diode array detector (HPLC-DAD). Pearson’s correlation index was calculated between pyrethrin compounds, and differences between the populations using the analysis of variance were tested. Additionally, the correlation of each pyrethrin component with spatio-ecological variables (bioclimate, soil properties, elevation, solar radiation, and distance from the coastline) was calculated. Total pyrethrin content ranged from 0.10% to 1.35% of dry flower weight, averaging 0.58% across all individuals. Analysis of variance revealed significant differences between populations based on all six pyrethrin compounds and total pyrethrin content. On average, the lowest total pyrethrin content was found in the population from Pelješac peninsula (0.22% of dry flower weight) in which total pyrethrin content lower than 0.18% was detected in 55% of the individuals. The highest average total pyrethrin content was observed in the population from island Zlarin (0.87% of dry flower weight), in which total pyrethrin content higher than 1.00% was recorded in only 30% of the individuals. Pyrethrin I/pyrethrin II ratio as a measure of extract quality ranged from 0.21 (population from the island Čiovo) to 5.88 (population from island Mali Lošinj) with an average of 1.77 across all individuals. By far, the lowest quality of extracts was found in the population from Mt. Biokovo (pyrethrin I/II ratio lower than 0.72 in 40% of individuals) due to the high pyrethrin II content typical for this population. Pearson’s correlation index revealed a highly significant positive correlation between pyrethrin I content and total pyrethrin content and a strong negative correlation between pyrethrin I and pyrethrin II. The results of this research clearly indicate high intra- and interpopulation diversity of Dalmatian pyrethrum with regards to pyrethrin content and composition. The information obtained has potential use in plant genetic resources conservation and biodiversity monitoring. Possibly the largest potential lies in designing breeding programs aimed at increasing pyrethrin content in commercial breeding lines and reintroduction in agriculture in Croatia. Acknowledgment: This work has been fully supported by the Croatian Science Foundation under the project ‘Genetic background of Dalmatian pyrethrum (Tanacetum cinerariifolium /Trevir/ Sch. Bip.) insecticidal potential’ - (PyrDiv) (IP-06-2016-9034).

Keywords: Dalmatian pyrethrum, HPLC, MSPD, pyrethrin

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1361 Bioinformatics Analysis of DGAT1 Gene in Domestic Ruminnants

Authors: Sirous Eydivandi

Abstract:

Diacylglycerol-O-acyltransferase (DGAT1) gene encodes diacylglycerol transferase enzyme that plays an important role in glycerol lipid metabolism. DGAT1 is considered to be the key enzyme in controlling the synthesis of triglycerides in adipocytes. This enzyme catalyzes the final step of triglyceride synthesis (transform triacylglycerol (DAG) into triacylglycerol (TAG). A total of 20 DGAT1 gene sequences and corresponding amino acids belonging to 4 species include cattle, goats, sheep and yaks were analyzed, and the differentiation within and among the species was also studied. The length of the DGAT1 gene varies greatly, from 1527 to 1785 bp, due to deletion, insertion, and stop codon mutation resulting in elongation. Observed genetic diversity was higher among species than within species, and Goat had more polymorphisms than any other species. Novel amino acid variation sites were detected within several species which might be used to illustrate the functional variation. Differentiation of the DGAT1 gene was obvious among species, and the clustering result was consistent with the taxonomy in the National Center for Biotechnology Information.

Keywords: DGAT1gene, bioinformatic, ruminnants, biotechnology information

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1360 Antibiotic Resistance and Tolerance to Biocides in Enterobacter

Authors: Rebiahi Sid Ahmed, Boutarfi Zakaria, Rahmoun Malika, Antonio Galvez

Abstract:

The objective of this study was to explore the possible correlation between resistance to antibiotics and tolerance to biocides in Gram-negative bacilli isolated from the University Hospital Center of Tlemcen. This study focused on 175 clinical isolates of Gram-negative bacilli, it is a question of exploring: their level and profile of resistance to antibiotics, their tolerance to biocides, as well as the identification of the genetic supports of this resistance. Enterobacter spp. was the most predominant bacterial genus, all isolates harbored at least one of the studied genes with significant resistance capacity. Our results show, in some cases, a possible positive correlation between the presence of biocide tolerance genes and those of antibiotic resistance; in fact, tolerance to biocides could be one of the co-selection factors for antibiotic resistance. The results of this study should encourage the good practice of hygiene measures as well as the rational use of antimicrobials in order to hinder the development and emergence of resistance in our hospital departments.Mots clés : Antibiotiques, Biocides, Enterobacter, Hôpital, Résistance,

Keywords: antibiotic, biocides, enterobacter, hospital, resistance

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1359 Post Harvest Fungi Diversity and Level of Aflatoxin Contamination in Stored Maize: Cases of Kitui, Nakuru and Trans-Nzoia Counties in Kenya

Authors: Gachara Grace, Kebira Anthony, Harvey Jagger, Wainaina James

Abstract:

Aflatoxin contamination of maize in Africa poses a major threat to food security and the health of many African people. In Kenya, aflatoxin contamination of maize is high due to the environmental, agricultural and socio-economic factors. Many studies have been conducted to understand the scope of the problem, especially at pre-harvest level. This research was carried out to gather scientific information on the fungi population, diversity and aflatoxin level during the post-harvest period. The study was conducted in three geographical locations of; Kitui, Kitale and Nakuru. Samples were collected from storage structures of farmers and transported to the Biosciences eastern and central Africa (BecA), International Livestock and Research Institute (ILRI) hub laboratories. Mycoflora was recovered using the direct plating method. A total of five fungal genera (Aspergillus, Penicillium, Fusarium, Rhizopus and Bssyochlamys spp.) were isolated from the stored maize samples. The most common fungal species that were isolated from the three study sites included A. flavus at 82.03% followed by A.niger and F.solani at 49% and 26% respectively. The aflatoxin producing fungi A. flavus was recovered in 82.03% of the samples. Aflatoxin levels were analysed on both the maize samples and in vitro. Most of the A. flavus isolates recorded a high level of aflatoxin when they were analysed for presence of aflatoxin B1 using ELISA. In Kitui, all the samples (100%) had aflatoxin levels above 10ppb with a total aflatoxin mean of 219.2ppb. In Kitale, only 3 samples (n=39) had their aflatoxin levels less than 10ppb while in Nakuru, the total aflatoxin mean level of this region was 239.7ppb. When individual samples were analysed using Vicam fluorometer method, aflatoxin analysis revealed that most of the samples (58.4%) had been contaminated. The means were significantly different (p=0.00<0.05) in all the three locations. Genetic relationships of A. flavus isolates were determined using 13 Simple Sequence Repeats (SSRs) markers. The results were used to generate a phylogenetic tree using DARwin5 software program. A total of 5 distinct clusters were revealed among the genotypes. The isolates appeared to cluster separately according to the geographical locations. Principal Coordinates Analysis (PCoA) of the genetic distances among the 91 A. flavus isolates explained over 50.3% of the total variation when two coordinates were used to cluster the isolates. Analysis of Molecular Variance (AMOVA) showed a high variation of 87% within populations and 13% among populations. This research has shown that A. flavus is the main fungal species infecting maize grains in Kenya. The influence of aflatoxins on human populations in Kenya demonstrates a clear need for tools to manage contamination of locally produced maize. Food basket surveys for aflatoxin contamination should be conducted on a regular basis. This would assist in obtaining reliable data on aflatoxin incidence in different food crops. This would go a long way in defining control strategies for this menace.

Keywords: aflatoxin, Aspergillus flavus, genotyping, Kenya

Procedia PDF Downloads 274