Search results for: human remains

Authors: Karen Butler

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Johnson C. Smith University, one of the nation’s oldest Historically Black Colleges and Universities, has a strong history of service learning and community service. We first integrated service learning and peer education into health education courses in the spring of 2000. Students enrolled in the classes served as peer educators for the semester. Since then, the program has evolved and expanded but remains an integral part of several courses. The purpose of this session is to describe our program in terms of development, successes, and obstacles, and feedback received. A detailed description of the service learning component in HED 235: Drugs and Drug Education and HED 337: Environmental Health will be provided. These classes are required of our Community Health majors but are also popular electives for students in other disciplines. Three sources of student feedback were used to evaluate and continually modify the component: the SIR II course evaluation, service learning reflection papers, and focus group interviews. Student feedback has been largely positive. When criticism was given, it was thoughtful and constructive – given in the spirit of making it better for the next group. Students consistently agreed that the service learning program increased their awareness of pertinent health issues; that both the service providers and service recipients benefited from the project; and that the goals/issues targeted by the service learning component fit the objectives of the course. Also, evidence of curriculum and learning enhancement was found in the reflection papers and focus group sessions. Service learning sets up a win-win situation. It provides a way to respond to campus and community health needs while enhancing the curriculum, as students learn more by doing things that benefit the health and wellness of others. Service learning is suitable for any health education course and any target audience would welcome the effort.

Keywords: black colleges, community health, health education, service learning

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Authors: Rabie Fadil, Parshuram Aarotale, Shubha Majumder, Bijay Guargain

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Hemorrhage is the loss of blood from the circulatory system and leading cause of battlefield and postpartum related deaths. Early detection of hemorrhage remains the most effective strategy to reduce mortality rate caused by traumatic injuries. In this study, we investigated the physiological changes via non-invasive cardiac signals at rest and under different hemorrhage conditions simulated through graded lower-body negative pressure (LBNP). Simultaneous electrocardiogram (ECG), photoplethysmogram (PPG), blood pressure (BP), impedance cardiogram (ICG), and phonocardiogram (PCG) were acquired from 10 participants (age:28 ± 6 year, weight:73 ± 11 kg, height:172 ± 8 cm). The LBNP protocol consisted of applying -20, -30, -40, -50, and -60 mmHg pressure to the lower half of the body. Beat-to-beat heart rate (HR), systolic blood pressure (SBP), diastolic blood pressure (DBP), and mean aerial pressure (MAP) were extracted from ECG and blood pressure. Systolic amplitude (SA), systolic time (ST), diastolic time (DT), and left ventricle Ejection time (LVET) were extracted from PPG during each stage. Preliminary results showed that the application of -40 mmHg i.e. moderate stage simulated hemorrhage resulted significant changes in HR (85±4 bpm vs 68 ± 5bpm, p < 0.01), ST (191 ± 10 ms vs 253 ± 31 ms, p < 0.05), LVET (350 ± 14 ms vs 479 ± 47 ms, p < 0.05) and DT (551 ± 22 ms vs 683 ± 59 ms, p < 0.05) compared to rest, while no change was observed in SA (p > 0.05) as a consequence of LBNP application. These findings demonstrated the potential of cardiac signals in detecting moderate hemorrhage. In future, we will analyze all the LBNP stages and investigate the feasibility of other physiological signals to develop a predictive machine learning model for early detection of hemorrhage.

Keywords: blood pressure, hemorrhage, lower-body negative pressure, LBNP, machine learning

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Authors: Kenji Gwee

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In Singapore, the death penalty remains in active use for murder and drug trafficking of controlled drugs such as heroin. As such, the psychological assessment of defendants can often be of high stakes. The Test of Memory Malingering (TOMM) is employed by government psychologists to determine the degree of effort invested by defendants, which in turn inform on the veracity of overall psychological findings that can invariably determine the life and death of defendants. The purpose of this study was to find out if defendants facing the death penalty were more likely to invest less effort during psychological assessment (to fake bad in hopes of escaping the death sentence) compared to defendants facing lesser penalties. An archival search of all forensic cases assessed in 2012-2013 by Singapore’s designated forensic psychiatric facility yielded 186 defendants’ TOMM scores. Offence severity, coded into 6 rank-ordered categories, was analyzed in a one-way ANOVA with TOMM score as the dependent variable. There was a statistically significant difference (F(5,87) = 2.473, p = 0.038). A Tukey post-hoc test with Bonferroni correction revealed that defendants facing lower charges (Theft, shoplifting, criminal breach of trust) invested less test-taking effort (TOMM = 37.4±12.3, p = 0.033) compared to those facing the death penalty (TOMM = 46.2±8.1). The surprising finding that those facing death penalties actually invested more test taking effort than those facing relatively minor charges could be due to higher levels of cooperation when faced with death. Alternatively, other legal avenues to escape the death sentence may have been preferred over the mitigatory chance of a psychiatric defence.

Keywords: capital sentencing, offence severity, Singapore, Test of Memory Malingering

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Authors: Esraa Elaraby, Dania Abu Zahra, Ghidaa Maswadah, Osama Amira, Mohamed Alshoura, Nihar Dash

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Background: Human being uses salon for a variety of purposes, from trimming of hair and shaving to a range of beauty treatments such as manicure and pedicure. Salon activities involve use of several instruments including scissors, scalpels and razors, materials such as soaps, solutions, creams and gels on human skin and body. Besides, salon customers also use chair, bed and many other common shared utensils and appliances. These salons related activities create a suitable environment for the transmission of several diseases and pathogens including hepatitis B and C, scabies, tuberculosis, staphylococcus and MRSA etc. The transmission of these pathogens can be prevented by maintenance of adequate hygiene and standard preventive measures. Aim: To assess the customer’s level of knowledge about salon-acquired infections and practices taken to prevent their transmission. Methods: A cross-sectional study was conducted among 500 participants across the Emirates. Moreover, self-administered questionnaires (in English and Arabic) were distributed through convenience sampling methods between February and April 2017. Results: The study included 500 participants of which 250 were females. The mean age of the study population was 33 years (SD=4.77). The participants were from several nationalities including 325 Arabs (Non-GCC) (66.2%), 108 Non-Arabs (22%), and 59 Arabs (GCC) (11.8%). The majority of the participants 421 (84.4%) had required knowledge about salon-associated infections with a mean knowledge score of 6/10 (60%). However, when it comes down to preventive practices, only 73 of the 500 participants (14.6%) did carry their own equipment. Thus, there was insufficient correlation between the level of knowledge and preventive practices (p=0.139) of salon-associated infections. Conclusion: People’s knowledge about the salon-associated infections among UAE residents was good, but only a small number practically took the required preventative measures towards this issue. Therefore, a public awareness program is recommended to enhance the deficiencies in knowledge and practices to prevent salon-acquired infections among the users. Up to our knowledge, this is the first study of this kind in the UAE targeting the salon customers about this important issue.

Keywords: awareness, knowledge, practices, salon-associated infections

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Authors: S. Alina Wang

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A Gibsonian approach is used to understand the existential dimensions of the human ecological niche. Then, this existential-Gibsonian framework is applied to rethinking Hacking’s historical analysis of multiple personality disorder. This research culminates in a generalized account of psychiatric illness from an enactivist lens. In conclusion, reflections on the implications of this account on approaches to psychiatric treatment are mentioned. J.J. Gibson’s theory of affordances centered on affordances of sensorimotor varieties, which guide basic behaviors relative to organisms’ vital needs and physiological capacities (1979). Later theorists, notably Neisser (1988) and Rietveld (2014), expanded on the theory of affordances to account for uniquely human activities relative to the emotional, intersubjective, cultural, and narrative aspects of the human ecological niche. This research shows that these affordances are structured by what Haugeland (1998) calls existential commitments, which draws on Heidegger’s notion of dasein (1927) and Merleau-Ponty’s account of existential freedom (1945). These commitments organize the existential affordances that fill an individual’s environment and guide their thoughts, emotions, and behaviors. This system of a priori existential commitments and a posteriori affordances is called existential enactivism. For humans, affordances do not only elicit motor responses and appear as objects with instrumental significance. Affordances also, and possibly primarily, determine so-called affective and cognitive activities and structure the wide range of kinds (e.g., instrumental, aesthetic, ethical) of significances of objects found in the world. Then existential enactivism is applied to understanding the psychiatric phenomenon of multiple personality disorder (precursor of the current diagnosis of dissociative identity disorder). A reinterpretation of Hacking’s (1998) insights into the history of this particular disorder and his generalizations on the constructed nature of most psychiatric illness is taken on. Enactivist approaches sensitive to existential phenomenology can provide a deeper understanding of these matters. Conceptualizing psychiatric illness as strictly a disorder in the head (whether parsed as a disorder of brain chemicals or meaning-making capacities encoded in psychological modules) is incomplete. Rather, psychiatric illness must also be understood as a disorder in the world, or in the interconnected networks of existential affordances that regulate one’s emotional, intersubjective, and narrative capacities. All of this suggests that an adequate account of psychiatric illness must involve (1) the affordances that are the sources of existential hindrance, (2) the existential commitments structuring these affordances, and (3) the conditions of these existential commitments. Approaches to treatment of psychiatric illness would be more effective by centering on the interruption of normalized behaviors corresponding to affordances targeted as sources of hindrance, the development of new existential commitments, and the practice of new behaviors that erect affordances relative to these reformed commitments.

Keywords: affordance, enaction, phenomenology, psychiatry, psychopathology

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Authors: John-Nelson Ekumah, Xu Han, Qiufang Liang, Benxi Wei, Arif Rashid, Muhammad Safiullah, Abdul Qayum, Selorm Yao-Say Solomon Adade, Nana Adwoa Nkuma Johnson, Abdur Rehman, Xiaofeng Ren

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Producing starch gels with superior mechanical attributes remains a challenging pursuit. This research sought to develop a simple method using ethanol exposure to produce robust starch gels. The gels’ mechanical properties, rheology, structural characteristics, and digestion were assessed through textural, rheological, structural, and in vitro digestion analyses. it investigation revealed an improvement in gel’s strength from 62.22 to178.82 g. The thermal transitions were accelerated when ethanol was elevated. The exposure to ethanol resulted in a reduction in syneresis from 11% to 9.5% over a period of 6 hours with noticeable change in size and color. Rheologically, the dominating storage modulus and tan delta (<0.55) emphasized the gel’s improved elasticity. X-ray analysis showed a stable B + V-type pattern after ethanol exposure, with increasing relative crystallinity to 7.9%. Digestibility revealed an ethanol induced resistance, through increased resistant starch from 1.87 to 8.73%. In general, the exposure to ethanol played a crucial role in enhancing the mechanical characteristics of kudzu starch gels, while simultaneously preserving higher levels of resistant starch fractions. These findings have wide-ranging implications in the fields of food and pharmaceuticals, underscoring the extensive academic and industrial importance of this study.

Keywords: kudzu starch gels, mechanical properties, rheological properties, submerged ethanol exposure, In vitro digestion

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Authors: Teklu Urgessa, Joong Seek Lee

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Social media is becoming the primary choice of activists to make their voices heard. This fact is coupled by two main reasons. The first reason is the emergence web 2.0, which gave the users opportunity to become content creators than passive recipients. Secondly the control of the mainstream mass media outlets by the governments and individuals with their political and economic interests. This paper aimed at exploring twitter data of network actors talking about the marathon silver medalists on Rio2016, who showed solidarity with the Oromo protesters in Ethiopia on the marathon race finish line when he won silver. The aim is to discover important insight using social network analysis and mining. The hashtag #FeyisaLelisa was used for Twitter network search. The actors’ network was visualized and analyzed. It showed the central influencers during first 10 days in August, were international media outlets while it was changed to individual activist in September. The degree distribution of the network is scale free where the frequency of degrees decay by power low. Text mining was also used to arrive at meaningful themes from tweet corpus about the event selected for analysis. The semantic network indicated important clusters of concepts (15) that provided different insight regarding the why, who, where, how of the situation related to the event. The sentiments of the words in the tweets were also analyzed and indicated that 95% of the opinions in the tweets were either positive or neutral. Overall, the finding showed that Olympic stage protest of the marathoner brought the issue of Oromo protest to the global stage. The new research framework is proposed based for event-based social network analysis and mining based on the practical procedures followed in this research for event-based social media sense making.

Keywords: human rights, Olympics, social media, network analysis, social network ming

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Authors: Xiangjun Kong, Dongning Yao, Yuanjia Hu

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Therapeutic antibodies have become the most valuable and successful class of biopharmaceutical drugs, with a huge market potential and therapeutic advantages. Antibody patents are, accordingly, extremely important. As the technological limitation of the early stage of this field, the U. S. Patent and Trademark Offices (USPTO) have issued guidelines that suggest an exception for patents claiming a genus of antibodies that bind to a novel antigen, even in the absence of any experimental antibody production. This 'antibody exception' allowed for a broad scope on antibody claims, and led a global trend to patent antibodies without antibodies. Disputes around the pertinent patentability and written description issues remain particularly intense. Yet the validity of such patents had not been overtly challenged until Centocor v. Abbott, which restricted the broad scope of antibody patents and hit the brakes on the 'antibody exception'. The courts tend to uphold the requirement for adequate description of antibodies in the patent specifications, to avoid overreaching antibody claims. Patents following the 'antibody exception' are at risk of being found invalid for inadequately describing what they have claimed. However, the relation between the court and USPTO guidelines remains obscure, and the waning of the 'antibody exception' has led to further disputes around antibody patents. This uncertainty clearly affects patent applications, antibody innovations, and even relevant business performance. This study will give an overview of the emergence, debate, and waning usage of the 'antibody exception' in a number of enlightening cases, attempting to understand the specific concerns and the potential influence of antibody patents. We will then provide some possible strategies for antibody patenting, under the current considerations on the 'antibody exception'.

Keywords: antibody exception, antibody patent, USPTO (U. S. Patent and Trademark Offices) guidelines, written description requirement

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Authors: Essam Gooda, Chadi Abdallah, Hamdi Seif, Safaa Baydoun, Rouya Hdeib, Hilal Obeid

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Floods are common natural disaster occurring in semi-arid regions in Lebanon. This results in damage to human life and deterioration of environment. Despite their destructive nature and their immense impact on the socio-economy of the region, flash floods have not received adequate attention from policy and decision makers. This is mainly because of poor understanding of the processes involved and measures needed to manage the problem. The current understanding of flash floods remains at the level of general concepts; most policy makers have yet to recognize that flash floods are distinctly different from normal riverine floods in term of causes, propagation, intensity, impacts, predictability, and management. Flash floods are generally not investigated as a separate class of event but are rather reported as part of the overall seasonal flood situation. As a result, Lebanon generally lacks policies, strategies, and plans relating specifically to flash floods. Main objective of this research is to improve flash flood prediction by providing new knowledge and better understanding of the hydrological processes governing flash floods in the East Catchments of El Assi River. This includes developing rainstorm time distribution curves that are unique for this type of study region; analyzing, investigating, and developing a relationship between arid watershed characteristics (including urbanization) and nearby villages flow flood frequency in Ras Baalbeck and Fekha. This paper discusses different levels of integration approach¬es between GIS and hydrological models (HEC-HMS & HEC-RAS) and presents a case study, in which all the tasks of creating model input, editing data, running the model, and displaying output results. The study area corresponds to the East Basin (Ras Baalbeck & Fakeha), comprising nearly 350 km2 and situated in the Bekaa Valley of Lebanon. The case study presented in this paper has a database which is derived from Lebanese Army topographic maps for this region. Using ArcMap to digitizing the contour lines, streams & other features from the topographic maps. The digital elevation model grid (DEM) is derived for the study area. The next steps in this research are to incorporate rainfall time series data from Arseal, Fekha and Deir El Ahmar stations to build a hydrologic data model within a GIS environment and to combine ArcGIS/ArcMap, HEC-HMS & HEC-RAS models, in order to produce a spatial-temporal model for floodplain analysis at a regional scale. In this study, HEC-HMS and SCS methods were chosen to build the hydrologic model of the watershed. The model then calibrated using flood event that occurred between 7th & 9th of May 2014 which considered exceptionally extreme because of the length of time the flows lasted (15 hours) and the fact that it covered both the watershed of Aarsal and Ras Baalbeck. The strongest reported flood in recent times lasted for only 7 hours covering only one watershed. The calibrated hydrologic model is then used to build the hydraulic model & assessing of flood hazards maps for the region. HEC-RAS Model is used in this issue & field trips were done for the catchments in order to calibrated both Hydrologic and Hydraulic models. The presented models are a kind of flexible procedures for an ungaged watershed. For some storm events it delivers good results, while for others, no parameter vectors can be found. In order to have a general methodology based on these ideas, further calibration and compromising of results on the dependence of many flood events parameters and catchment properties is required.

Keywords: flood risk management, flash flood, semi arid region, El Assi River, hazard maps

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Authors: Hadeer Ibrahiem, Mahmoud Nasr, Masarrat M. M. Migahid, Mohamed A. Ghazy

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The release of textile wastewater loaded with 1,4 dioxane into aquatic ecosystems has been associated with various human health risks and adverse environmental impacts. In parallel, phytoremediation has been recently employed to treat highly polluted wastewater because various plant species tend to produce certain enzymes as a defense mechanism against a toxic environment. To our best knowledge, this study is the first to investigate the ability of phytoremediation using Eichhornia crassipes for the removal of various pollutants, including 1,4 dioxane, from textile wastewater. A phytoremediation system composed of Eichhornia crassipes was acclimatized for 10 d, and then operated in four lab-scale hydroponic systems, viz., negative control, positive control, and two different 1,4 dioxane concentration (400 and 500 mg/L). After 11 d of operation, the phytoremediation system achieved removal efficiencies of 67.5±3.4%, 89.4±4.4%, 83.6±3.8% for 1,4 dioxane (at initial concentration 400 mg/L), chemical oxygen demand (COD) (at initial concentration 679 mg/L), and cumulative heavy metals, respectively. The removal of these pollutants was mainly supported by the phyto-sorption and phytodegradation mechanisms. The economic feasibility of this phytoremediation system was validated by estimating the capital and operating costs, requiring 4.6 USD for the treatment of 1 m3 textile wastewater. The study concluded that the phytoremediation process could be used as a practical and economical approach to treat textile wastewater laden with various organic and inorganic pollutants. Due to the observed pollution reduction and human health protection, the study objectives would fulfill the targets of SDG 3 “Good Health and Well-being” and SDG 6 “Clean Water and Sanitation”. Further studies are required to (i) investigate the ability of plant species to withstand higher concentrations of 1,4 dioxane for an extended operation time and (ii) understand the biochemical pathways for the degradation of 1,4 dioxane via the action of plant enzymes and the associated microbial community.

Keywords: 1, 4 dioxane concentrations, hydrophytes, Eichhornia crassipes, phytoremediation effectiveness, SDGs, textile industrial effluent

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Authors: R. J. Pontawe, R. C. Martinez, N. T. Asuncion, R. V. Villacorte

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Drying of high moisture paddy remains a major problem in the Philippines, especially during inclement weather condition. To alleviate the problem, mechanical dryers were used like a flat bed and recirculating batch-type dryers. However, drying to 14% (wet basis) final moisture content is long which takes 10-12 hours and tedious which is not the ideal for handling high moisture paddy. Fully-automated pilot-scale fluidized bed drying system with 500 kilograms per hour capacity was evaluated using a high moisture paddy. The developed fluidized bed dryer was evaluated using four drying temperatures and two variations in fluidization time at a constant airflow, static pressure and tempering period. Complete drying of paddy with ≥28% (w.b.) initial MC was attained after 2 passes of fluidized-bed drying at 2 minutes exposure to 70 °C drying temperature and 4.9 m/s superficial air velocity, followed by 60 min ambient air tempering period (30 min without ventilation and 30 min with air ventilation) for a total drying time of 2.07 h. Around 82% from normal mechanical drying time was saved at 70 °C drying temperature. The drying cost was calculated to be P0.63 per kilogram of wet paddy. Specific heat energy consumption was only 2.84 MJ/kg of water removed. The Head Rice Yield recovery of the dried paddy passed the Philippine Agricultural Engineering Standards. Sensory evaluation showed that the color and taste of the samples dried in the fluidized bed dryer were comparable to air dried paddy. The optimum drying parameters of using fluidized bed dryer is 70 oC drying temperature at 2 min fluidization time, 4.9 m/s superficial air velocity, 10.16 cm grain depth and 60 min ambient air tempering period.

Keywords: drying, fluidized bed dryer, head rice yield, paddy

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Authors: A. Smaï, H. Idouhar-Saadi, S. Zenia, F. Haddadj, A. Aboun, S.Doumandji

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The quail is the smallest member of the order fowl. His captive breeding has been practiced for centuries by the Japanese. Knowing that in the literature, it is mentioned that the end of lay is noted for the age of 6 months, our work has revealed a good egg production by females aged up to 35 weeks of age. In the same vein, our study focused on various parameters such as weight, diet and the number of eggs laid and this in order to better know the potential production and reproduction of domestic quail. Egg production has started from the 8th week of age of breeding, crop them and their counts are conducted daily basis until the age of 35 weeks. Indeed, biometric parameters are studied such as weight, length, and the largest diameter, the shape index, the index of shell, in order to analyze the physical condition of eggs by females of age. Until the age of 22 weeks, the eggs have maintained good biometric features. Japanese quail are best producing eggs. Hatchability is also considered. They are excellent poultry yields, since they begin laying eggs in two months and can provide abundant nesting with females over 8 months in our study. Other farms results reveal conclusions. Indeed, one aspect remains to be developed; it is the analysis of nutritional and therapeutic values of eggs over the age of females. The latter, given their wealth is a dietary supplement of animal origin with dietary value (it contains 0 cholesterol) that characterizes the quail eggs. Raising quail among other reproduction requires minimal when compared to other domestic birds space, this is the second breeding, in terms of importance after the chicken. Therefore, in the case of a farm that works exclusively in the production of eggs, requires minimal work and free space, as well as reduced costs.

Keywords: Japanese quail, reproduction, eggs, biometrics, reproductive age

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Authors: Thi Phuong Lan Nguyen

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Vietnamese English Language Teacher Education (ELTE) has been changing a lot in response to the rapidly evolving socio-economic context requirements. The Vietnamese government assigns the Ministry of Education and Training (MOET) primary tasks to have policy changes to prepare for ELTE development in the globalization and socialization process. Many educational policies have been made to develop ELTE, however, they seem not to address the new global or social demands. The issue is that there are still significant disparities between the national policy and the institutional implementation. This study is to investigate the alignment between ELTE institutional curriculum, pedagogies, and MOET standards. This study used a mixed-method with the data sources from policy documents, a survey, and 33 interviews conducted with the lecturers and administrators from eleven Vietnamese ELTE institutions. The data have been analysed to understand the gap between policy and practice. The initial findings are (i) a low alignment of curriculum and language proficiency standards and (ii) a moderate alignment between curriculum and future-career skills standards. Many pedagogical challenges have been found. In order to address these gaps, it is necessary for the curriculum to be standards-based designed. It is also vital for professional development in order to improve the quality teaching. The study offers multiple perspectives on a complex issue. The study is meaningful not only to educational governance, but also to teaching practitioners, English language researchers, and English language learners. The significance lies in its relevance to English teaching careers across all parts of Vietnam, it yet remains relevant to ELTE in other countries teaching English as a foreign language.

Keywords: alignment, curriculum, educational policy, English language teaching, pedagogy, standards

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Authors: Sina Mahdavi, Mahdi Asghari Ozma

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Multiple sclerosis (MS) is the most common inflammatory autoimmune disease of the CNS that affects the myelination process in the central nervous system (CNS). Complex interactions of various "environmental or infectious" factors may act as triggers in autoimmunity and disease progression. The association between viral infections, especially human Varicella-zoster virus (VZV) and MS is one potential cause that is not well understood. This study aims to summarize the available data on VZV retrovirus infection in MS disease progression. For this study, the keywords "Multiple sclerosis", " Human Varicella-zoster virus ", and "central nervous system" in the databases PubMed, Google Scholar, Sid, and MagIran between 2016 and 2022 were searched and 14 articles were chosen, studied, and analyzed. Analysis of the amino acid sequences of HNRNPA1 with VZV proteins has shown a 62% amino acid sequence similarity between VZV gE and the PrLD/M9 epitope region (TNPO1 binding domain) of mutant HNRNPA1. A heterogeneous nuclear ribonucleoprotein (hnRNP), which is produced by HNRNPA1, is involved in the processing and transfer of mRNA and pre-mRNA. Mutant HNRNPA1 mimics gE of VZV as an antigen that leads to autoantibody production. Mutant HnRNPA1 translocates to the cytoplasm, after aggregation is presented by MHC class I, followed by CD8 + cells. Of these, antibodies and immune cells against the gE epitopes of VZV remain due to the memory immune response, causing neurodegeneration and the development of MS in genetically predisposed individuals. VZV expression during the course of MS is present in genetically predisposed individuals with HNRNPA1 mutation, suggesting a link between VZV and MS, and that this virus may play a role in the development of MS by inducing an inflammatory state. Therefore, measures to modulate VZV expression may be effective in reducing inflammatory processes in demyelinated areas of MS patients in genetically predisposed individuals.

Keywords: multiple sclerosis, varicella-zoster virus, central nervous system, autoimmunity

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Authors: Mukhtar Raban

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Nelson Mandela University subscribes to a humanizing pedagogy (HP), as housed under broader critical pedagogy, that underpins and informs learning and teaching activities at the institution. The investigation sought to explore the implications of humanizing and critical pedagogical considerations for a technology-enhanced language learning (TELL) environment in a university course. The paper inquires into the design of a learning resource in an online learning environment of an English communication module, that applied HP principles. With an objective of creating agentive spaces for foregrounding identity, student voice, critical self-reflection, and recognition of others’ humanity; a flexible and open 'My Presence' feature was added to the TELL environment that allowed students and lecturers to share elements of their backgrounds in a ‘mutually vulnerable’ manner as a way of establishing digital identity and a more ‘human’ presence in the online language learning encounter, serving as a catalyst for the recognition of the ‘other’. Following a qualitative research design, the study adopted an auto-ethnographic approach, complementing the critical inquiry nature embedded into the activity’s practices. The study’s findings provide critical reflections and deductions on the possibilities of leveraging digital human expression within a humanizing pedagogical framework to advance the realization of HP-adoption in language learning and teaching encounters. It was found that the consideration of humanizing pedagogical principles in the design of online learning was more effective when the critical outcomes were explicated to students and lecturers prior to the completion of the activities. The integration of humanizing pedagogy also led to a contextual advancement of ‘affective’ language learning. Upon critical reflection and analysis, student identity and agency can flourish in a technology-enhanced learning environment when humanizing, and critical pedagogy influences the learning design.

Keywords: critical reflection, humanizing pedagogy, student identity, technology-enhanced language learning

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Authors: Hyeon Sop Baek

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This paper will investigate the Korean concept of han and suggest that the feeling of han is essentially inseparable from the central project of the Korean neo-Confucian philosophical tradition. Han is a complex sentiment, but one may characterize it as an internally directed complex of sentiments of frustration, sadness, and anger. In particular, this paper aims to demonstrate that the Korean neo-Confucian project's ultimate objective was to build a pluralistic world – where different people can coexist together in harmony and participate in building the ideal world. Nevertheless, the confrontation between the neo-Confucian idea – that every person has the intrinsic potential to be moral – and the bleakness of reality that made their objective virtually impossible to achieve led to the formation and development of the feeling of han. The paper will first examine the concept of han and what it entails and then investigate the core elements of Korean neo-Confucianism, examining the works of Korean neo-Confucians, including Toegye, Yulgok, and Jeong Dojeon. Furthermore, the concept of plurality will be drawn from the political theory of Hannah Arendt. While the Arendtian and Korean neo-Confucian philosophies are ultimately different, this paper will contend that the two philosophies' broader aims share many resonating points. Specifically, within both philosophies, the human plurality – that all humans are equal but not the same – underlies the foundation of an ideal political realm. From there, an argument that the difficulty faced by the neo-Confucians in Korea in constructing a polity based on the ideal of respect and human moral capacity ultimately contributed to the emergence of the sentiment han will be presented. In conclusion, this paper will demonstrate that the ultimate objectives of Korean Confucianism lie in closing the gap between the ideal and reality in moral cultivation as well as its political project of building an ideal, pluralistic world, and han emerges from the realization of the difficulty of achieving that goal. Finally, this paper will contest that han needs not be perceived negatively, and han can be a driving force for political participation in the contemporary democratic, pluralistic society.

Keywords: Korea, Confucianism, neo-Confucianism, philosophy, han, Korean philosophy

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Authors: Dwitya Elvira, Raveinal Masri, Rohayat Bilmahdi

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Human Immunodeficiency Virus (HIV) pandemic increased significantly worldwide. The rise in cases of HIV/AIDS was also followed by an increase in the incidence of opportunistic infection, with tuberculosis being the most opportunistic infection found in HIV/AIDS and the main cause of mortality in HIV/AIDS patients. Diagnosis of tuberculosis in HIV/AIDS patients is often difficult because of the uncommon symptom in HIV/AIDS patients compared to those without the disease. Thus, diagnostic tools are required that are more effective and efficient to diagnose tuberculosis in HIV/AIDS. CXCL-10/IP-10 is a chemokine that binds to the CXCR3 receptor found in HIV/AIDS patients with a weakened immune system. Tuberculosis infection in HIV/AIDS activates chemokine IP-10 in urine, which is used as a marker for diagnosis of infection. The aim of this study was to prove whether IP-10 urine can be a biomarker diagnosis of active lung tuberculosis in HIV-AIDS patients. Design of this study is a cross sectional study involving HIV/AIDS patients with lung tuberculosis as the subject of this study. Forty-seven HIV/AIDS patients with tuberculosis based on clinical and biochemical laboratory were asked to collect urine samples and IP-10/CXCL-10 urine being measured using ELISA method with 18 healthy human urine samples as control. Forty-seven patients diagnosed as HIV/AIDS were included as a subject of this study. HIV/AIDS were more common in male than in women with the percentage in male 85.1% vs. 14.5% of women. In this study, most diagnosed patients were aged 31-40 years old, followed by those 21-30 years, and > 40 years old, with one case diagnosed at age less than 20 years of age. From the result of the urine IP-10 using ELISA method, there was significant increase of the mean value of IP-10 urine in patients with TB-HIV/AIDS co-infection compared to the healthy control with mean 61.05 pg/mL ± 78.01 pg/mL vs. mean 17.2 pg/mL. Based on this research, there was significant increase of urine IP-10/CXCL-10 in active lung tuberculosis with HIV/AIDS compared to the healthy control. From this finding, it is necessary to conduct further research into whether urine IP-10/CXCL-10 plays a significant role in TB-HIV/AIDS co-infection, which can also be used as a biomarker in the early diagnosis of TB-HIV.

Keywords: chemokine, HIV/AIDS, IP-10 urine, tuberculosis

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Authors: Gustavo Naranjo Maroto, Dolores Fernandez Martinez

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Context has always been essential to understand any reaction from every human being, and words, whether written or spoken, are definitely a powerful representative sample of human reaction. This study starts with an accurate breakdown of the context in which the current president of the US, Mr. Donald J. Trump is conveying his discourses in order to be able to judge them from a critical discourse analysis point of view. The present world’s scenario with a pandemic disease in form of Covid-19 that is threatening the world and certainly putting at risk the so called 'Welfare State', the role of the United States as the first superpower on earth nowadays, the very peculiar profile of President Trump not only as a politician but as a persona, and the fact of being on the verge of a very controversial presidential elections are without doubt a great and undeniable opportunity for the implementation of the critical discourse analysis methodology. Hence, this research will primarily analyze in detail some of the most interesting discourses delivered by Trump in different media since the very beginning of the outbreak of the coronavirus pandemic in the United States of America (February, 2020), sadly very often downplayed by President Trump, until the final result of the upcoming presidential election scheduled for Tuesday, November 3, 2020, where the political discourse has been dramatically downgraded to a very dangerous state, putting in jeopardy the fundamentals of the political fair play in terms of speech. Finally, the study will hopefully conclude with the final outcome of the data analyzed, allowing to picture how significant the context can be concerning linguistics on the one hand, in terms of shaping or altering the message that the issuer thought to convey in the first place, and on the other hand, generously assessing to what extend the recipients of the message are influenced by the message in terms of receptiveness.

Keywords: Covid-19, critical discourse analysis, Donald J. Trump, political discourse

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Authors: Yuhang Wang

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As energy is vital to industrial productivity and human existence, ensuring energy security becomes a critical government responsibility. The Chinese government has implemented the energy transition to safeguard China’s energy security. Throughout this progression, the Chinese government has faced numerous obstacles. This article seeks to describe the causes of China’s energy transition barriers and the steps taken by the Chinese government to overcome them.

Keywords: energy transition, energy market, fragmentation, path dependency

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Authors: Sammy Xiaoyan Ying

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Professional skepticism remains one of the most important and controversial topics in auditing. This study examines the influence of client cooperativeness and fraud risk on judgments of professional skepticism among Chinese entry-level auditors in the context of evaluation of client-provided audit evidence. Given that the essence of auditors’ PS rests on distrust of clients, this study invokes trust-related theories from psychological and cultural perspectives. Specifically, invoking psychology theories of trust concerning positive relationship between risk and distrust, this study hypothesizes that professional skepticism is likely to be positively associated with client fraud risk. The results support the hypothesis and show that lower (higher) levels of client fraud risk lead to lower (higher) levels of professional skepticism. Furthermore, drawing on analysis of relationship between cooperation and trust, with particular reference to guanxi dynamics in the Chinese culture, this study hypothesizes that professional skepticism is likely to be negatively associated with client cooperativeness. The results support the hypothesis and show that higher (lower) levels of client cooperativeness lead to lower (higher) levels of professional skepticism. The findings may assist audit firms and auditing educators in improving training and education programs and enhancing entry-level auditors’ abilities to maintain professional skepticism. Also, practitioners and regulators may benefit from increasing awareness of psychological factors in influencing professional skepticism.

Keywords: audit judgment, Chinese culture, entry-level auditor, professional skepticism

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Authors: Erhong Sun, Xuchun Ye

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Technophobia, namely the fear or dislike of modern advanced technologies, plays a central role in age-related digital divides and is considered a new risk factor for older adults, which can affect the daily lives of people through low adherence to digital living. Indeed, there is considerable heterogeneity in the group of older adults who feel technophobia. Therefore, the aim of this study was to identify different technophobia typologies of older people and to examine their associations with the subjective age factor. A sample of 704 retired elderly over the age of 55 was recruited in China. Technophobia and subjective age were assessed with a questionnaire, respectively. Latent profile analysis was used to identify technophobia subgroups, using three dimensions including techno-anxiety, techno-paranoia, and privacy concerns as indicators. The association between the identified technophobia subgroups and subjective age was explored. In summary, four different technophobia typologies were identified among older adults in China. Combined with an investigation of personal background characteristics and subjective age, it draws a more nuanced image of the technophobia phenome among older adults in China. First, not all older adults suffer from technophobia, with about half of the elderly subjects belonging to the profiles of “Low-technophobia” and “Medium-technophobia.” Second, privacy concern plays an important role in the classification of technophobia among older adults. Third, subjective age might be a protective factor for technophobia in older adults. Although the causal direction between identified technophobia typologies and subjective age remains uncertain, our suggests that future interventions should better focus on subjective age by breaking the age stereotype of technology to reduce the negative effect of technophobia on older. Future development of this research will involve extensive investigation of the detailed impact of technophobia in senior populations, measurement of the negative outcomes, as well as formulation of innovative educational and clinical pathways.

Keywords: technophobia, older adults, latent profile analysis, subjective age

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Authors: Maaike Maria Augustina Hommes

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This paper reviews the emergence of the recently approved lust enhancing pill for women (sold under the brand name of Addyi) and its status as ‘medicine’ from a cultural studies perspective to understand the way in which the usage of the pill can be seen as a medicalization of sexual desire. It asks where this medicalization can be localized to understand the current placement of and notions on female sexuality. Via a close reading of a woman’s narration of her usage of the pill that appeared in Shape Magazine, this paper critically reviews the pill’s relation to the concept of ‘cure’ and assesses the way this Pink Pill functions as a cure to the DSM-IV based disorder called Hypoactive Sexual Desire Disorder. As such it finds that in the diagnosis with HSDD meant a huge relief. Now this woman was not just ‘bad at life and bad at marriage’ but ‘just had this health issue’. In order to get to an understanding of the different structures that conjoin in this expression of relief this paper reviews the emergence of the sexual desire disorder within psychology and the way that the loss of desire becomes localized in the brain. This localization will be related to two ways of looking at the human body; the medical gaze as described by Michel Foucault, and the neuromolecular gaze, as introduced by Nikolas Rose and Joelle M.Abi-Rached. Both these penetrating gazes bring about a certain reductionism in which the human body is either viewed as an objectified ‘sick body’ or as a set of chemical reactions. By referring to these modes of looking as reductionist one assumes that something is lost, or forgotten in the act of reducing. It is both what is gained in the formulation of the disorder, as what is lost in reduction of the disorder in medical knowledge that is at the central inquiry of this paper. As such, this paper brings forward the way in which medicine and cultural narrative are deeply intertwined. It is this way in which different forces of subject formation come together that is addressed via an interdisciplinary and object-centered focus on the pink pill.

Keywords: disorder and cure, female sexual desire, medical gaze, neuromolecular gaze

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Authors: Azadeh Yasari, Michael Ganzle, Stephen Strelkov, Nuanyi Liang, Jonathan Curtis, Nat N. V. Kav

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Pathogenic fungi cause significant yield losses and quality reductions to major crops including wheat, canola, and barley. Toxic metabolites produced by phytopathogenic fungi also pose significant risks to animal and human health. Extensive application of synthetic fungicides is not a sustainable solution since it poses risks to human, animal and environmental health. Unsaturated fatty acids may provide an environmentally friendly alternative because of their direct antifungal activity against phytopathogens as well as through the stimulation of plant defense pathways. The present study assessed the in vitro and in vivo efficacy of two hydroxy fatty acids, coriolic acid and ricinoleic acid, against the phytopathogens Fusarium graminearum, Pyrenophora tritici-repentis, Pyrenophora teres f. teres, Sclerotinia sclerotiorum, and Leptosphaeria maculans. Antifungal activity of coriolic acid and ricinoleic acid was evaluated using broth micro-dilution method to determine the minimum inhibitory concentration (MIC). Results indicated that both ricinoleic acid and coriolic acid showed antifungal activity against phytopathogens, with the strongest inhibitory activity against L. maculans, but the MIC varied greatly between species. An antifungal effect was observed for coriolic acid in vivo against pathogenic fungi of wheat and barley. This effect was not correlated to the in vitro activity because ricinoleic acid with equivalent in vitro antifungal activity showed no protective effect in vivo. Moreover, neither coriolic acid nor ricinoleic acid controlled fungal pathogens of canola. In conclusion, coriolic acid inhibits some phytopathogens in vivo and may have the potential to be an effective crop protection agent.

Keywords: coriolic acid, minimum inhibitory concentration, pathogenic fungi, ricinoleic acid

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Authors: Maria C. Proença, Maria T. Rebelo, Maria J. Alves, Sofia Cunha

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Vector-borne diseases are transmitted to humans by mosquitos, sandflies, bugs, ticks, and other vectors. Some are re-transmitted between vectors, if the infected human has a new contact when his levels of infection are high. The vector is infected for lifetime and can transmit infectious diseases not only between humans but also from animals to humans. Some vector borne diseases are very disabling and globally account for more than one million deaths worldwide. The mosquitoes from the complex Culex pipiens sl. are the most abundant in Portugal, and we dispose in this moment of a data set from the surveillance program that has been carried on since 2006 across the country. All mosquitos’ species are included, but the large coverage of Culex pipiens sl. and its importance for public health make this vector an interesting candidate to assess risk of disease amplification. This work focus on ports and airports identified as key areas of high density of vectors. Mosquitoes being ectothermic organisms, the main factor for vector survival and pathogen development is temperature. Minima and maxima local air temperatures for each area of interest are averaged by month from data gathered on a daily basis at the national network of meteorological stations, and interpolated in a geographic information system (GIS). The range of temperatures ideal for several pathogens are known and this work shows how to use it with the meteorological data in each port and airport facility, to focus an efficient implementation of countermeasures and reduce simultaneously risk transmission and mitigation costs. The results show an increased alert with decreasing latitude, which corresponds to higher minimum and maximum temperatures and a lower amplitude range of the daily temperature.

Keywords: human health, risk assessment, risk management, vector-borne diseases

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Authors: Adane Gebresilassie Hailemariam, Belete Yilma Hirpaye

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The enhanced concentrations of heavy metals, especially in sediments, may indicate human-induced perturbations rather than natural enrichment through geological weathering. Heavy metals are non-biodegradable, persist in the environment, and are concentrated up to the food chain, leading to enhanced levels in the liver and muscle tissues of fishes, aquatic bryophytes, and aquatic biota. Marine organisms, in general fish in particular, accumulate metals to concentrations many times higher than present in water or sediment as they can take up metals in their organs and concentrate at different levels. Thus, metals acquired through the food chain due to pollution are potential chemical hazards, threatening consumers. The Nile tilapia (oreochromic niloticus), catfish (clarius garpinus), and water samples were collected from five sampling sites, namely, inlet-1, inlet-2, center, outlet-1 and outlet-2 of Lake Chamo. The concentration of major and trace metals Na, K, Mg, Ca, Cr, Co, Ni, Mn and Cu in the two fish muscles, gill and liver, was determined using an atomic absorption spectrometer (AAS) and flame photometer (FP). Metal concentrations in the water have also been evaluated within the two consecutive seasons, winter (dry) and spring (wet). The results revealed that the concentration of those metals in Tilapia’s (O. niloticus) muscle, gill, and liver were Na 44.5, 35.1, 28, Mg 2.8, 8.41, 4.61, K 43, 32, 30, Ca 1.5, 6.0, 5.5, Cr 0.91, 1.2, 3.5, Co 3.0, 2.89, 2.62, Ni 0.94, 1.99, 2.2, Mn 1.23, 1.51, 1.6 and Cu 1.1, 1.99, 3.5 mg kg-1 respectively and in catfish’s muscle, gill and liver Na 25, 39, 41.5, Mg 4.8, 2.87, 6, K 29, 38, 40, Ca 2.5, 8.10, 3.0, Cr 0.65, 3.5, 5.0, Co 2.62, 1.86, 1.73, Ni 1.10, 2.3, 3.1, Mn 1.54, 1.57, 1.59 and Cu 1.01, 1.10, 3.70 mg kg-1 respectively. The highest accumulation of Na and K were observed for tilapia muscle and catfish gill, Mg and Ca got higher in tilapia gill and catfish liver, while Co is higher in muscle of the two fish. The Cr, Ni, Mn and Cu levels were higher in the livers of the two fish species. In conculusion, metal toxicity through food chain is the current dangerous issue for human and othe animals. This needs deep focus to promot the health of living animals. The Details of the work are going to be discussed at the conference.

Keywords: bioaccumulation, catfish, essential metals, nile tilapia

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Authors: Eyad H. R. Fadda, Jawaher K. Al Rashdieah, Aysha H. Al Rashdieh

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Urban Sprawl is a phenomenon that many regions in the Sultanate of Oman suffer from in general and in Welayat Barka in particular. It is considered a human phenomenon that causes many negative effects as it has increased in the last time clearly, and this study aims to diagnose the current status of urban growth taking place in Walayat Barka. The objective of this study is to monitor and follow up on the most prominent changes and developments taking place in Barka in the period from 2002 to 2019 and provide suggestions to the decision-makers to reduce the negative effects of the phenomenon. The study methodology depends on the descriptive and analytical approach to describe the phenomenon and its analysis and knowledge of the factors that helped in urban expansion in the Barka, using a number of studies and interviews with the specialists, both in governmental and private institutions, as well as with individuals who own land, real estate, and others. Geographic Information Systems (GIS) and Remote Sensing (ERDAS software) have been used to analyze the satellite images that helped in obtaining results that reflect the changes Barka, in addition to knowing the natural and human determinants that stand on Urban Sprawl Expansion. The study concluded that the geographical location of Barka has a significant role in its urban expansion, as it is the closest state to the capital Muscat, as this expansion continues toward the southern and south-western directions, as this expansion has significant negative effects represented in the low number of agricultural lands due to the continuous change in land use. In addition, it was found that there are two types of natural determinants of urban expansion in Barka, which are consumed land from the Sea of Oman and from the western sands.

Keywords: GIS applications, remote sensing, urbanization, urban sprawl expansion trends

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Authors: Ayoub. El Bourtali, Abdessamed.Najine, Amrou Moussa. Benmoussa

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One of the main goals of river engineering is river training, which is defined as controlling and predicting the behavior of a river. It is taking effective measurements to eliminate all related risks and thus improve the river system. In some rivers, the riverbed continues to erode and degrade; therefore, equilibrium will never be reached. Generally, river geometric characteristics and riverbed erosion analysis are some of the most complex but critical topics in river engineering and sediment hydraulics; riverbank erosion is the second answering process in hydrodynamics, which has a major impact on the ecological chain and socio-economic process. This study aims to integrate the new computer technology that can analyze erosion and hydraulic problems through computer simulation and modeling. Choosing the right model remains a difficult and sensitive job for field engineers. This paper makes use of the 5.0.4 version of the HEC-RAS model. The river section is adopted according to the gauged station and the proximity of the adjustment. In this work, we will demonstrate how 2D hydraulic modeling helped clarify the design and cover visuals to set up depth and velocities at riverbanks and throughout advanced structures. The hydrologic engineering center's-river analysis system (HEC-RAS) 2D model was used to create a hydraulic study of the erosion model. The geometric data were generated from the 12.5-meter x 12.5-meter resolution digital elevation model. In addition to showing eroded or overturned river sections, the model output also shows patterns of riverbank changes, which can help us reduce problems caused by erosion.

Keywords: 2D hydraulics model, erosion, floodplain, hydrodynamic, HEC-RAS, riverbed erosion, river morphology, resolution digital data, sediment

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Authors: Murali Aarthy, Sanjeev Kumar Singh

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High risk human papillomaviruses are highly associated with the carcinoma of the cervix and the other genital tumors. Cervical cancer develops through the multistep process in which increasingly severe premalignant dysplastic lesions called cervical intraepithelial neoplastic progress to invasive cancer. The oncoprotein E7 of human papillomavirus expressed in the lower epithelial layers drives the cells into S-phase creating an environment conducive for viral genome replication and cell proliferation. The replication of the virus occurs in the terminally differentiating epithelium and requires the activation of cellular DNA replication proteins. To date, no suitable drug molecule is available to treat HPV infection whereas identification of potential drug targets and development of novel anti-HPV chemotherapies with unique mode of actions are expected. Hence, our present study aimed to identify the potential inhibitors analogous to EGCG, a green tea molecule which is considered to be safe to use for mammalian systems. A 3D similarity search on the natural small molecule library from natural product database using EGCG identified 11 potential hits based on their similarity score. The structure based docking strategies were implemented in the potential hits and the key interacting residues of protein with compounds were identified through simulation studies and binding free energy calculations. The conformational changes between the apoprotein and the complex were analyzed with the simulation and the results demonstrated that the dynamical and structural effects observed in the protein were induced by the compounds and indicated the dominance to the oncoprotein. Overall, our study provides the basis for the structural insights of the identified potential hits and EGCG and hence, the analogous compounds identified can be potent inhibitors against the HPV 16 E7 oncoprotein.

Keywords: EGCG, oncoprotein, molecular dynamics simulation, analogues

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Authors: Eng Rima Al-Awadhi, Abdul Jaleel Tharayil

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In a project-centric organization like KOC, managing the knowledge of the project is of critical importance to the success of the project and the organization. However, due to the very nature and complexity involved, each project engagement generates a lot of 'learnings' that need to be factored into while new projects are initiated and thus avoid repeating the same mistake. But, many a time these learnings are localized and remains as ‘tacit knowledge’ leading to scope re-work, schedule overrun, adjustment orders, concession requests and claims. While KOC follows an asset based organization structure, with a multi-cultural and multi-ethnic workforce and larger chunk of the work is carried out through complex, long term project engagement, diffusion of ‘learnings’ across assets while dealing with the natural entropy of the organization is of great significance. Considering the relatively higher number of mega projects, it's important that the issues raised during the project life cycle are centrally harvested, analyzed and the ‘learnings’ from these issues are shared, absorbed and are in-turn utilized to enhance and refine the existing process and practices, leading to improve the project performance. One of the many factors contributing to the successful completion of a project on time is the reduction in the number of variations or concessions triggered during the project life cycle. The project process integrated knowledge sharing framework discusses the knowledge harvesting methodology adopted, the challenges faced, learnings acquired and its impact on project performance. The framework facilitates the proactive identification of issues that may have an impact on the overall quality of the project and improve performance.

Keywords: knowledge harvesting, project integrated knowledge sharing, performance improvement, knowledge management, lessons learn

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Authors: S. Fahiminiya, J. Nadaf, F. Rauch, L. Jerome-Majewska, J. Majewski

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Background: Sequencing of protein coding regions of human genome (Whole Exome Sequencing; WES), has demonstrated a great success in the identification of causal mutations for several rare genetic disorders in human. Generally, most of WES studies have focused on rare variants in coding exons and splicing-sites where missense substitutions lead to the alternation of protein product. Although focusing on this category of variants has revealed the mystery behind many inherited genetic diseases in recent years, a subset of them remained still inconclusive. Here, we present the result of our WES studies where analyzing only rare variants in coding regions was not conclusive but further investigation revealed the involvement of non-coding variants and copy number variations (CNV) in etiology of the diseases. Methods: Whole exome sequencing was performed using our standard protocols at Genome Quebec Innovation Center, Montreal, Canada. All bioinformatics analyses were done using in-house WES pipeline. Results: To date, we successfully identified several disease causing mutations within gene coding regions (e.g. SCARF2: Van den Ende-Gupta syndrome and SNAP29: 22q11.2 deletion syndrome) by using WES. In addition, we showed that variants in non-coding regions and CNV have also important value and should not be ignored and/or filtered out along the way of bioinformatics analysis on WES data. For instance, in patients with osteogenesis imperfecta type V and in patients with glucocorticoid deficiency, we identified variants in 5'UTR, resulting in the production of longer or truncating non-functional proteins. Furthermore, CNVs were identified as the main cause of the diseases in patients with metaphyseal dysplasia with maxillary hypoplasia and brachydactyly and in patients with osteogenesis imperfecta type VII. Conclusions: Our study highlights the importance of considering non-coding variants and CNVs during interpretation of WES data, as they can be the only cause of disease under investigation.

Keywords: whole exome sequencing data, non-coding variants, copy number variations, rare diseases

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