Search results for: individuals with mild intellectual disabilities

Authors: Ian Campbell, Gillian Mitchell, Paul James, Na Li, Ella Thompson

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The genetic cause of the majority of multiple-case breast cancer families remains unresolved. Next generation sequencing has emerged as an efficient strategy for identifying predisposing mutations in individuals with inherited cancer. We are conducting whole exome sequence analysis of germ line DNA from multiple affected relatives from breast cancer families, with the aim of identifying rare protein truncating and non-synonymous variants that are likely to include novel cancer predisposing mutations. Data from more than 200 exomes show that on average each individual carries 30-50 protein truncating mutations and 300-400 rare non-synonymous variants. Heterogeneity among our exome data strongly suggest that numerous moderate penetrance genes remain to be discovered, with each gene individually accounting for only a small fraction of families (~0.5%). This scenario marks validation of candidate breast cancer predisposing genes in large case-control studies as the rate-limiting step in resolving the missing heritability of breast cancer. The aim of this study is to screen genes that are recurrently mutated among our exome data in a larger cohort of cases and controls to assess the prevalence of inactivating mutations that may be associated with breast cancer risk. We are using the Agilent HaloPlex Target Enrichment System to screen the coding regions of 168 genes in 1,000 BRCA1/2 mutation-negative familial breast cancer cases and 1,000 cancer-naive controls. To date, our interim analysis has identified 21 genes which carry an excess of truncating mutations in multiple breast cancer families versus controls. Established breast cancer susceptibility gene PALB2 is the most frequently mutated gene (13/998 cases versus 0/1009 controls), but other interesting candidates include NPSR1, GSN, POLD2, and TOX3. These and other genes are being validated in a second cohort of 1,000 cases and controls. Our experience demonstrates that beyond PALB2, the prevalence of mutations in the remaining breast cancer predisposition genes is likely to be very low making definitive validation exceptionally challenging.

Keywords: predisposition, familial, exome sequencing, breast cancer

Procedia PDF Downloads 486

Authors: Panas Gerasimos, Kotidou Varvara, Halkiopoulos Constantinos, Gkintoni Evgenia

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As a result of growing technology and briefing by the internet, users resort to the internet and subsequently to the opinion of an expert. In many cases, they take control of their health in their hand and make a decision without the contribution of a doctor. According to that, this essay intends to analyze the confidence of searching health issues on the internet. For the fulfillment of this study, there has been a survey among doctors in order to find out the reasons a patient uses the internet about their health problems and the consequences that health information could lead by searching on the internet, as well. Specifically, the results regarding the research of the users demonstrate: a) the majority of users make use of the internet about health issues once or twice a month, b) individuals that possess chronic disease make health search on the internet more frequently, c) the most important topics that the majority of users usually search are pathological, dietary issues and the search of issues that are associated with doctors and hospitals. However, it observed that topic search varies depending on the users’ age, d) the most common sources of information concern the direct contact with doctors, as there is a huge preference from the majority of users over the use of the electronic form for their briefing and e) it has been observed that there is large lack of knowledge about e-health services. From the doctor's point of view, the following conclusions occur: a) almost all doctors use the internet as their main source of information, b) the internet has great influence over doctors’ relationship with the patients, c) in many cases a patient first makes a visit to the internet and then to the doctor, d) the internet significantly has a psychological impact on patients in order to for them to reach a decision, e) the most important reason users choose the internet instead of the health professional is economic, f) the negative consequence that emerges is inaccurate information, g) and the positive consequences are about the possibility of online contact with the doctor and contributes to the easy comprehension of the doctor, as well. Generally, it’s observed from both sides that the use of the internet in health issues is intense, which declares that the new means the doctors have at their disposal, produce the conditions for radical changes in the way of providing services and in the doctor-patient relationship.

Keywords: cognitive models, health marketing, e-health, psychological factors, digital marketing, e-health services

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Authors: Arif Budiman

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Any organization or company that wishes to achieve vision, mission, and goals of the organization is required to implement a performance management system or known as the Performance Management System (PMS) in every part of the whole organization. PMS is a tool to help visualize the direction and work program of the organization to achieve the goal. The challenge is PMS should not stop merely as a visualization tool to achieve the vision and mission of the organization, but PMS should also be able to create a high-performance culture that is inherent in each individual of the organization. Establishment of a culture within an organization requires the support of top leaders and also requires a system or governance that encourages every individual in the organization to be involved in any work program of the organization. Keywords of creating a high-performance culture are the formation of communication pattern involving the whole individual, either vertically or horizontally, and performed consistently and persistently by all individuals in each line of the organization. PT Pertamina (Persero) as the state-owned national energy company holds a system to internalize the culture of high performance through a system called Performance Management System Cycle (PMS Cycle). This system has 7 stages of the cycle, those are: (1) defining vision, mission and strategic plan of the company, (2) defining key performance indicator of each line and the individual (‘expectation setting conversation’), (3) defining performance target and performance agreement, (4) monitoring performance on a monthly regular basis (‘pulse check’), (5) implementing performance dialogue between leaders and staffs periodically every 3 months (‘performance dialogue’), (6) defining rewards and consequences based on the achievement of the performance of each line and the individual, and (7) calculating the final performance value achieved by each line and individual from one period of the current year. Perform PMS is a continual communication running throughout the year, that is why any three performance discussion that should be performed, include expectation setting conversations, pulse check and performance dialogue. In addition, another significant point and necessary undertaken to complete the assessment of individual performance assessment is soft competencies through 360-degree assessment by leaders, staffs, and peers.

Keywords: 360-degree assessment, expectation setting conversation, performance management system cycle, performance dialogue, pulse check

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Authors: Suneet Jagdev, Siddharth Singhal, Dhrubajyoti Bordoloi, Peesari Vamshidhar Reddy

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There is no universally accepted definition of what constitutes a Smart City. It means different things to different people. The definition varies from place to place depending on the level of development and the willingness of people to change and reform. It tries to improve the quality of resource management and service provisions for the people living in the cities. Smart city is an urban development vision to integrate multiple information and communication technology (ICT) solutions in a secure fashion to manage the assets of a city. But most of these projects are misinterpreted as being technology projects only. Due to urbanization, a lot of informal as well government funded settlements have come up during the last few decades, thus increasing the consumption of the limited resources available. The people of each city have their own definition of Smart City. In the imagination of any city dweller in India is the picture of a Smart City which contains a wish list of infrastructure and services that describe his or her level of aspiration. The research involved a comparative study of the Smart City models in India and in China. Behavioral changes experienced by the people living in the pilot/first ever smart cities have been identified and compared. This paper discussed what is the target of the quality of life for the people in India and in China and how well could that be realized with the facilities being included in these Smart City projects. Logical and comparative analyses of important data have been done, collected from government sources, government papers and research papers by various experts on the topic. Existing cities with historically grown infrastructure and administration systems will require a more moderate step-by-step approach to modernization. The models were compared using many different motivators and the data is collected from past journals, interacting with the people involved, videos and past submissions. In conclusion, we have identified how these projects could be combined with the ongoing small scale initiatives by the local people/ small group of individuals and what might be the outcome if these existing practices were implemented on a bigger scale.

Keywords: behavior change, mission monitoring, pilot smart cities, social capital

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Authors: Masooma Al-Balushi, Tamer Mohamed Atef

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The Sultanate of Oman is located on the South-eastern tip of the Arabian Peninsula. It is bordered by the Gulf of Oman and the Arabian Sea and has borders with the United Arab Emirates, Saudi Arabia and Yemen. Arabic is the official language. Islam is the official religion. Islam has a great impact on most Omanis, Shari’a law is the law of Oman. The tribal structure plays an essential role in the lives of Omanis. Most people in the Gulf States bear a tribal name rather than a family name. Religion, tribe, and family are highly influential in shaping individuals’ values and behaviors, and have a very noticeable influence on a person’s career choices. Tourism development has been given special attention by the Sultanate of Oman’s government aspiring that the industry would assist in creating direct job opportunities as well as boost the economy through provision of hard currency to improve the balance of payments. This study aims to assess the impact of socio-cultural and religious factors on Omanis employment in the hotel sector. The socio-cultural and religious factors have serious impacts on Omani employment in the hotel sector. Some employees are concerned about the source of income because of the idea that since the hotel business is based on activities such as serving alcohol and pork, gambling, and accommodating unmarried couples, their source of income would be questionable religion wise. For females, the designated job uniform and the interaction with males are major concerns. Ability to fulfil family obligations for married Omanis, and marriage opportunity for singles were other raised concerns. Whilst the future prosperity of the hotel industry depends on the quality of its people, in Oman, the hospitality industry has failed, for a number of reasons, to project an image that could generate interest amongst Omanis. Furthermore, the characteristics and the very nature of the hotel sector are in direct conflict with Islamic doctrines which are embedded in Omani life and society.

Keywords: culture, society, hotel, hospitality, Islam, Oman

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Authors: Harper Staples

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A necessary outcome of today’s contemporary globalised reality, current views of multilingualism hold that it no longer represents the exception, but rather the rule. As such, the simultaneous acquisition of multiple languages represents a common experience for many of today's students and therefore represents a key area of inquiry in the domain of foreign language learner identity. Second and multilingual language acquisition processes parallel each other in many ways; however, there are differences to be found in the ways in which a student may learn a third language. A multilingual repertoire will have to negotiate complex change as language competencies dynamically evolve; moreover, this process will vary according to the contextual factors attributed to a unique learner. A developing multilingual identity must, therefore, contend with an array of potential challenges specific to the individual in question. Despite an overarching recognition in the literature that pluri-language acquisition represents a unique field of inquiry within applied linguistic research, there is a paucity of empirical work which examines the ways in which individuals construct a sense of their own identity as multilingual speakers in such contexts of learning. This study explores this phenomenon via a mixed-methods, comparative case study approach at four school sites based in Finland, France, Wales, and England. It takes a strongly individual-in-context view, conceptualising each adolescent participant in dynamic terms in order to undertake a holistic exploration of the myriad factors that might impact upon, and indeed be impacted by, a learner's developing multilingual identity. Emerging themes of note thus far suggest that, beyond the expected divergences in the experience of multilinguality at the individual level, there are contradictions in the way in which adolescent students in each site 'claim' their plurilingualism. This can be argued to be linked to both meso and macro-level factors, including the foreign language curriculum and, more broadly, societal attitudes towards multilingualism. These diverse emergent identifications have implications not only for attainment in the foreign language but also for student well-being more generally.

Keywords: foreign language learning, student identity, multilingualism, educational psychology

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Authors: Maliha Ahmed Suleman, Sidra Ahmed Suleman

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Introduction: The use of pacifiers is common amongst infants and young children as a comforting behavior. These non-nutritive sucking habits can be detrimental to the developing occlusion should they persist while the permanent dentition is established. Orthodontic pacifiers have been recommended as an alternative to conventional pacifiers as they are considered to have less interference with orofacial development. However, there is a lack of consensus on whether this is true. Aim and objectives: To review the prevalence of malocclusion associated with the use of orthodontic pacifiers. Methodology: Literature was identified through a rigorous search of the Embase, Pubmed, CINAHL, and Cochrane Library databases. Articles published from 2000 onwards were included. In total, 5 suitable papers were identified. Results: One study showed that the use of orthodontic pacifiers increased the risk of malocclusion, as seen through a greater prevalence of accentuated overjet, posterior crossbites, and anterior open bites in comparison to individuals who did not use pacifiers. However, this study found that there was a clinically significant reduction in the prevalence of anterior open bites amongst orthodontic pacifier users in comparison to conventional pacifier users. Another study found that both types of pacifiers lead to malocclusion; however, they found no difference in the mean overjet and prevalence of anterior open bites amongst conventional and orthodontic pacifier users. In contrast, one study suggested that orthodontic pacifiers do not seem to be related to the development of malocclusions in the primary dentitions, and using them between the ages of 0-3 months was actually beneficial as it prevents thumb-sucking habits. One of the systemic reviews concluded that orthodontic pacifiers do not seem to reduce the occurrence of posterior crossbites; however, they could reduce the development of open bites by virtue of their thin neck design. Whereas another systematic review concluded that there were no differences as to the effects on the stomatognathic system when comparing conventional and orthodontic pacifiers. Conclusion: There is limited and conflicting evidence to support the notion that orthodontic pacifiers can reduce the prevalence of malocclusion when compared to conventional pacifiers. Well-designed randomized controlled trials are required in the future in order to thoroughly assess the effects of orthodontic pacifiers on the developing occlusion and orofacial structures.

Keywords: orthodontics, pacifier, malocclusion, review

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Authors: Berfin Yildiz

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These days, increasing global warming effects, limited amount of energy resources, etc., necessitates the awareness that must be present in every profession group. The architecture and construction sectors are responsible for both the embodied and operational energy of the materials. This responsibility has led designers to seek alternative solutions for energy-efficient material selection. The choice of energy-efficient material requires consideration of the entire life cycle, including the building's production, use, and disposal energy. The aim of this study is to investigate the method of material selection of external thermal insulation composite systems (ETICS). Embodied and in-use energy values of material alternatives were used for the evaluation in this study. The operational energy is calculated according to the u-value calculation method defined in the TS 825 (Thermal Insulation Requirements) standard for Turkey, and the embodied energy is calculated based on the manufacturer's Energy Performance Declaration (EPD). ETICS consists of a wall, adhesive, insulation, lining, mechanical, mesh, and exterior finishing materials. In this study, lining, mechanical, and mesh materials were ignored because EPD documents could not be obtained. The material selection problem is designed as a hypothetical volume area (5x5x3m) and defined as a multi-objective discrete optimization problem for external thermal insulation composite systems. Defining the problem as a discrete optimization problem is important in order to choose between materials of various thicknesses and sizes. Since production and use energy values, which are determined as optimization objectives in the study, are often conflicting values, material selection is defined as a multi-objective optimization problem, and it is aimed to obtain many solution alternatives by using Hypervolume (HypE) algorithm. The enrollment process started with 100 individuals and continued for 50 generations. According to the obtained results, it was observed that autoclaved aerated concrete and Ponce block as wall material, glass wool, as insulation material gave better results.

Keywords: embodied energy, multi-objective discrete optimization, performative design, thermal insulation

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Authors: Julianne Viola

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Young people are at a critical stage in their lives, developing from young participants to adult participants in democratic society. At this time, civic engagement is crucial for young people’s sense of belonging and future participation in their communities. In adolescence, individuals form their own identities and associations with others and may accomplish this with the help of technology and social media. In the Digital Age, young people and adults use technology as a platform to discuss political issues, including human rights and social justice but do not always engage in civil discourse. There is an urgent need to investigate this complex interplay of social media, identity formation, and civil discourse as it relates to how teenagers become participants in democratic society and how they engage in civil discourse. This qualitative study draws on theories of identity formation in adolescence and is situated within the literature surrounding teen civic engagement and technology use. Through in-depth interviews with participants ages 14 through 17, this study investigates the ways in which teens conceptualize their civic identities and engagement, presence online, and civil discourse. The context in which the young people in this study have grown up has the potential to impact and inform these processes. Early results of this study illustrate what it means to be a young person in today’s world, and how perceptions of others’ opinions may influence young people’s engagement in their communities and online. Participants in this study often indicated concerns of their age as a constraint on participation in their communities and in society, and a self-imposed restriction around the people with whom they engage in conversation about political and social issues. While the participants shared common concerns and experiences, each participant’s unique perspectives and beliefs are viewed with equal importance. The results from this research will help students, teachers, and community groups learn about the reasons for engagement and disengagement among this age group, and how technology has influenced teens’ dialogue about political issues. With this knowledge, academics and school leaders can devise new ways to best teach citizenship skills and civil discourse to students in the Digital Age.

Keywords: civics, digital age, discourse, sociology of youth, youth studies

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Authors: Lindsay Crystabelle A. Gillamac, Lemuel Roy Amarillo, Al Leonard Joseph B. Aca-Ac, Felipe V. Lula Jr.

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Hangover is the unpleasant psychological and physiologic effects after heavy consumption of alcoholic beverages. In awareness of the need to have a remedy for hangover occurrence in Iligan City, the authors aimed to determine the most preferred and effective local remedy to the hangover and inform people, bars and food establishments that there are available remedies to the hangover in the locality. The study utilizes qualitative data gathered through an interview on four different age groups with 50 random individuals each group as to what symptom determines they are experiencing the hangover. Then, quantitative data gathered through an online and written survey was done as to what local hangover remedy do they intake after drinking to ameliorate the most experienced symptom provided from the first assessment. After data tabulation of hangover symptoms on different age groups, we have found out that the most common determinant that you have a hangover has a headache. Thus, we queried the respondents again to what was effective the most in relieving them of a headache and their other felt symptoms depending on their varying age groups. The results of the evaluations showed that most respondents from different age groups preferred Halang-halang Soup, a spicy beef soup in the locality. As part of the hospitality industry concerned with welfare of customers, Bars in Iligan City should include on their menu these hang-over remedies in anticipation of guest needs given the fact that there are no more stores open at late hours in Iligan City. Placards should also be posted within the bar area to orient the guests about hang-over cures available inside the bar. Bartenders and other staff being directly in-contact with guests should take part in orienting guests about these aforementioned remedies. Added to that, we would like to promote Halang-halang Soup as a Health beneficial cuisine in the Philippines and help in the growth of the Tourism Industry of Iligan City by making the Halang-halang place a tourist destination.

Keywords: alcohol, alcohol consumption, alcohol hangover, anticipation of needs, bar, cure, hangover, headache, hospitality industry, local remedy, menu, menu development, menu improvement, remedy, Philippines

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Authors: Ava Zarif Sanayei, Sedigheh Sina

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Interventional radiology (IR) uses imaging guidance, including X-rays and CT scans, to deliver therapy precisely. Most IR procedures are performed under local anesthesia and start with a small needle being inserted through the skin, which may be called pinhole surgery or image-guided surgery. There is increasing concern about radiation exposure during interventional radiology procedures due to procedure complexity. The basic aim of optimizing radiation protection as outlined in ICRP 139, is to strike a balance between image quality and radiation dose while maximizing benefits, ensuring that diagnostic interpretation is satisfactory. This study aims to estimate the equivalent doses to the main trunk of the body for the Interventional radiologist and Superintendent using LiF: Mg, Ti (TLD-100) chips at the IR department of a hospital in Shiraz, Iran. In the initial stage, the dosimeters were calibrated with the use of various phantoms. Afterward, a group of dosimeters was prepared, following which they were used for three months. To measure the personal equivalent dose to the body, three TLD chips were put in a tissue-equivalent batch and used under a protective lead apron. After the completion of the duration, TLDs were read out by a TLD reader. The results revealed that these individuals received equivalent doses of 387.39 and 145.11 µSv, respectively. The findings of this investigation revealed that the total radiation exposure to the staff was less than the annual limit of occupational exposure. However, it's imperative to implement appropriate radiation protection measures. Although the dose received by the interventional radiologist is a bit noticeable, it may be due to the reason for using conventional equipment with over-couch x-ray tubes for interventional procedures. It is therefore important to use dedicated equipment and protective means such as glasses and screens whenever compatible with the intervention when they are available or have them fitted to equipment if they are not present. Based on the results, the placement of staff in an appropriate location led to increasing the dose to the radiologist. Manufacturing and installation of moveable lead curtains with a thickness of 0.25 millimeters can effectively minimize the radiation dose to the body. Providing adequate training on radiation safety principles, particularly for technologists, can be an optimal approach to further decreasing exposure.

Keywords: interventional radiology, personal monitoring, radiation protection, thermoluminescence dosimetry

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Authors: Lovis Ingrid Hakala

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This paper provides an example of how the dating app Tinder can be used as a tool in queer research and what the use of the app among lesbians can tell us about the production of particular kinds of lesbian identities paired with technology. This study seeks to understand the ways in which the app is understood by lesbian women and how it is brought into their understandings of what being a lesbian means. Dating apps are becoming increasingly common as tools for meeting a potential partner and research has shown how these apps gain new meaning depending on the context. This paper will show both how Tinder has gained a particular meaning in a lesbian context in Bologna, and also how the use of Tinder produces specific ideas of what lesbians are and how they act. While doing ethnographic fieldwork among young lesbians (20-30 years old) in Bologna in the autumn of 2017, as a part of the research methodology, Tinder was used together with interviews and participant observation. By signing up on Tinder and contacting potential informants on the app the aim was to reach women who were not necessarily involved in the queer activist spaces in the city and who might thus provide a different perspective than their activist counterparts. Using Tinder as a tool in research proved to be a useful methodology both when it came to contacting potential informants as well as in gaining a better understanding for queer identity building, and the role Tinder played in defining lesbianism in Bologna. The app itself was often deemed useless, and informants often complained about the lack of women on the app who had their profile showing an interest in women. Apart from being away for the interlocutors to get in touch with potential romantic or sexual partners, the app did provide a concrete object around which to define particular lesbian behavior. Lesbians were described to be slow at answering and not being very eager to meet. This placed lesbian women, in contrast to gay men who were seen as doing the opposite, using dating apps a lot and be quick to propose meetings. Tinder among lesbians in Bologna thus proved to have a dual function as both a way of creating connections between queer women but also as a tool to define what a lesbian is. This paper provides insight into the ways in which dating apps provides a community and identity building function and how a certain behavior on said apps can be a part of defining identity. This work stands out among other literature on dating apps since it does not only focus on the methodological aspects of using Tinder as a tool in research but also provides an insight in how the way in which individuals use the app comes to add to an understanding of what a lesbian is.

Keywords: dating apps, identity, Italy, lesbian, queer

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Authors: Jessica Ho

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AI has helped government, businesses and industries transform the way they do things. AI is used in automating tasks to improve decision-making and efficiency. AI is embedded in sensors and used in automation to help save time and eliminate human errors in repetitive tasks. Today, we saw the growth in AI using the collection of vast amounts of data to forecast with greater accuracy, inform decision-making, adapt to changing market conditions and offer more personalised service based on consumer habits and preferences. Government around the world share the opportunity to leverage these disruptive technologies to improve productivity while reducing costs. In addition, these intelligent solutions can also help streamline government processes to deliver more seamless and intuitive user experiences for employees and citizens. This is a critical challenge for NSW Government as we are unable to determine the risk that is brought by the unprecedented pace of adoption of AI solutions in government. Government agencies must ensure that their use of AI complies with relevant laws and regulatory requirements, including those related to data privacy and security. Furthermore, there will always be ethical concerns surrounding the use of AI, such as the potential for bias, intellectual property rights and its impact on job security. Within NSW’s public sector, agencies are already testing AI for crowd control, infrastructure management, fraud compliance, public safety, transport, and police surveillance. Citizens are also attracted to the ease of use and accessibility of AI solutions without requiring specialised technical skills. This increased accessibility also comes with balancing a higher risk and exposure to the health and safety of citizens. On the other side, public agencies struggle with keeping up with this pace while minimising risks, but the low entry cost and open-source nature of generative AI led to a rapid increase in the development of AI powered apps organically – “There is an AI for That” in Government. Other challenges include the fact that there appeared to be no legislative provisions that expressly authorise the NSW Government to use an AI to make decision. On the global stage, there were too many actors in the regulatory space, and a sovereign response is needed to minimise multiplicity and regulatory burden. Therefore, traditional corporate risk and governance framework and regulation and legislation frameworks will need to be evaluated for AI unique challenges due to their rapidly evolving nature, ethical considerations, and heightened regulatory scrutiny impacting the safety of consumers and increased risks for Government. Creating an effective, efficient NSW Government’s governance regime, adapted to the range of different approaches to the applications of AI, is not a mere matter of overcoming technical challenges. Technologies have a wide range of social effects on our surroundings and behaviours. There is compelling evidence to show that Australia's sustained social and economic advancement depends on AI's ability to spur economic growth, boost productivity, and address a wide range of societal and political issues. AI may also inflict significant damage. If such harm is not addressed, the public's confidence in this kind of innovation will be weakened. This paper suggests several AI regulatory approaches for consideration that is forward-looking and agile while simultaneously fostering innovation and human rights. The anticipated outcome is to ensure that NSW Government matches the rising levels of innovation in AI technologies with the appropriate and balanced innovation in AI governance.

Keywords: artificial inteligence, machine learning, rules, governance, government

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Authors: Kinza Qadeer, Muhammad Abdul Qyyum, Moonyong Lee

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Natural gas has become an attractive energy source in comparison with other fossil fuels because of its lower CO₂ and other air pollutant emissions. Therefore, compared to the demand for coal and oil, that for natural gas is increasing rapidly world-wide. The transportation of natural gas over long distances as a liquid (LNG) preferable for several reasons, including economic, technical, political, and safety factors. However, LNG production is an energy-intensive process due to the tremendous amount of power requirements for compression of refrigerants, which provide sufficient cold energy to liquefy natural gas. Therefore, one of the major issues in the LNG industry is to improve the energy efficiency of existing LNG processes through a cost-effective approach that is 'optimization'. In this context, a bio-inspired Krill-herd (KH) step-up approach was examined to enhance the energy efficiency of a single mixed refrigerant (SMR) natural gas liquefaction (LNG) process, which is considered as a most promising candidate for offshore LNG production (FPSO). The optimal design of a natural gas liquefaction processes involves multivariable non-linear thermodynamic interactions, which lead to exergy destruction and contribute to process irreversibility. As key decision variables, the optimal values of mixed refrigerant flow rates and process operating pressures were determined based on the herding behavior of krill individuals corresponding to the minimum energy consumption for LNG production. To perform the rigorous process analysis, the SMR process was simulated in Aspen Hysys® software and the resulting model was connected with the Krill-herd approach coded in MATLAB. The optimal operating conditions found by the proposed approach significantly reduced the overall energy consumption of the SMR process by ≤ 22.5% and also improved the coefficient of performance in comparison with the base case. The proposed approach was also compared with other well-proven optimization algorithms, such as genetic and particle swarm optimization algorithms, and was found to exhibit a superior performance over these existing approaches.

Keywords: energy efficiency, Krill-herd, LNG, optimization, single mixed refrigerant

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Authors: E. Syngelaki, C. C. F. Schinkel, S. Klatt, E. Hörandl

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Environmental influence can alter the conditions for plant development and can trigger changes in epigenetic variation. Thus, the exposure to abiotic environmental stress can lead to different DNA methylation profiles and may have evolutionary consequences for adaptation. Epigenetic control mechanisms may further influence mode of reproduction. The alpine species R. kuepferi has diploid and tetraploid cytotypes, that are mostly sexual and facultative apomicts, respectively. Hence, it is a suitable model system for studying the correlations of mode of reproduction, ploidy, and environmental stress. Diploid and tetraploid individuals were placed in two climate chambers and treated with low (+7°C day/+2°C night, -1°C cold shocks for three nights per week) and warm (control) temperatures (+15°C day/+10°C night). Subsequently, methylation sensitive-Amplified Fragment-Length Polymorphism (AFPL) markers were used to screen genome-wide methylation alterations triggered by stress treatments. The dataset was analyzed for four groups regarding treatment (cold/warm) and ploidy level (diploid/tetraploid), and also separately for full methylated, hemi-methylated and unmethylated sites. Patterns of epigenetic variation suggested that diploids differed significantly in their profiles from tetraploids independent from treatment, while treatments did not differ significantly within cytotypes. Furthermore, diploids are more differentiated than the tetraploids in overall methylation profiles of both treatments. This observation is in accordance with the increased frequency of apomictic seed formation in diploids and maintenance of facultative apomixis in tetraploids during the experiment. Global analysis of molecular variance showed higher epigenetic variation within groups than among them, while locus-by-locus analysis of molecular variance showed a high number (54.7%) of significantly differentiated un-methylated loci. To summarise, epigenetic variation seems to depend on ploidy level, and in diploids may be correlated to changes in mode of reproduction. However, further studies are needed to elucidate the mechanism and possible functional significance of these correlations.

Keywords: apomixis, cold stress, DNA methylation, Ranunculus kuepferi

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Authors: T. Yasmin, M. A. Farrelly, B. C. Rogers

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Urban water governance in developing countries faces numerous challenges arising from uncontrolled urban population expansion, water pollution, greater economic push and more recently, climate change impact while undergoing transitioning towards a sustainable system. Sustainability transition requires developing adaptive capacities of the socio-ecological and socio-technical system to be able to deal with complexity. Adaptive capacities deliver strategies to connect individuals, organizations, agencies and institutions at multiple levels for dealing with such complexity. Understanding the level of adaptive capacities for sustainability transformation thus has gained significant research attention within developed countries, much less so in developing countries. Filling this gap, this article develops a conceptual framework for analysing the level of adaptive capacities (if any) within a developing context. This framework then applied to the chronological development of urban water governance strategies in Bangladesh for almost two centuries. The chronological analysis of governance interventions has revealed that crisis (public health, food and natural hazards) became the opportunities and thus opened the windows for experimentation and learning to occur as a deviation from traditional practices. Self-organization and networks thus created the platform for development or disruptions to occur for creating change. Leadership (internal or external) is important for nurturing and upscaling theses development or disruptions towards guiding policy vision and targets as well as championing ground implementation. In the case of Bangladesh, the leadership from the international and national aid organizations and targets have always lead the development whereas more often social capital tools (trust, power relations, cultural norms) act as disruptions. Historically, this has been evident in the development pathways of urban water governance in Bangladesh. Overall this research has shown some level of adaptive capacities is growing for sustainable urban growth in big cities, nevertheless unclear regarding the growth in medium and small cities context.

Keywords: adaptive capacity, Bangladesh, sustainability transformation, water governance

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Authors: William Thomas Worster

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This paper will highlight the failure of international adjudication to prevent a state from evading an order of provisional measures by simply issuing a diplomatic assurance to the court. This practice changes the positions of the litigants as equals before a court, prevents the court from inquiring into the reliability of the political pledge as it would with assurances from a state to an individual, and diminishes the court’s ability to control its own proceedings in the face of concerns over sovereignty. Both the European Court of Human Rights (ECtHR) and International Court of Justice (ICJ) will entertain these kinds of unilateral pledges, but they consider them differently when the declaration is made between states or between a state and an individual, and when made directly to the court. In short, diplomatic assurances issued between states or to individuals are usually considered not to be legally binding and are essentially questions of fact, but unilateral assurances issued directly to an international court are questions of law, and usually legally binding. At the same time, orders for provisional measures are now understood also to be legally binding, yet international courts will sometimes permit a state to substitute an assurance in place of an order for provisional measures. This emerging practice has brought the nature of a state as a sovereign capable of creating legal obligations into the forum of adjudication where the parties should have equality of arms and permitted states to create legal obligations that escape inquiry into the reliability of the outcome. While most recent practice has occurred at the ICJ in state-to-state litigation, there is some practice potentially extending the practice to human rights courts. Especially where the litigants are factually unequal – a state and an individual – this practice is problematic since states could more easily overcome factual failings in their pledges and evade the control of the court. Consider, for example, the potential for evading non-refoulement obligations by extending the current diplomatic assurances practice from the state-to-state context to the state-to-court context. The dual nature of assurances, as both legal and factual instruments, should be considered as addressed to distinct questions, each with its own considerations, and that we need to be more demanding about their precise legal and factual effects.

Keywords: unilateral, diplomacy, assurances, undertakings, provisional measures, interim measures

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Authors: Lubna M. A. Hassan, Nasir Brema, Abdallah Mamy, Insaf Yahya, Tanzil A. G., Ahmed M. M. Hasoba, Omer A. Suliman

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The Nubian ibex species has been categorized as vulnerable by the International Union for Conservation of Nature (IUCN) due to a lack of population data in specific regions within their habitat. This species faces numerous challenges, including habitat loss caused by agricultural practices, livestock rearing, mining activity, and infrastructure development. Additionally, competition with non-native species and hunting pose significant threats to their survival. Unfortunately, studies on the distribution, conservation status, ecology, and health of the ibex are limited and primarily descriptive in nature. In order to bridge this knowledge gap, recent surveys were conducted in the Red Sea State of Sudan during specific periods in 2015, 2016, 2019, and 2021. These surveys have provided valuable insights into the distribution, habitats, and conservation status of the Nubian ibex in the Red Sea State. The findings indicate that the Capra nubiana ibex can be found across more than 17 mountains in the Red Sea State. However, the total population estimate from recent years suggests that there are fewer than 250 individuals remaining. The study has also identified the highest altitude at which the Nubian ibex habitats existed in Sudan's Red Sea State, measuring 1675 m. This area harbors a diverse array of Nubian ibex habitats, encompassing a total of 21 wild plant species from 10 distinct families. The region experiences an average annual temperature ranging from 20.64°C in January to 33.30°C in August. Precipitation occurs in November and December, although it is characterized by unreliability and erratic patterns. It is important to note that these population estimates were obtained through surveys conducted in collaboration with rangers and local communities, and adjustments to survey methods are necessary to accommodate the challenging mountainous terrain, such as utilizing aerial surveys. To effectively address these threats, it is imperative to establish comprehensive long-term monitoring programs.

Keywords: Nubian ibex, distribution, population, habitats

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Authors: Balkibekova Venera Serikpaevna

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Background: Autism Spectrum Disorder (ASD) poses significant challenges in both diagnosis and treatment. Existing therapeutic interventions often target specific symptoms, necessitating the exploration of alternative approaches. This study investigates the RITM (Rhythm Integration Tapping Music) developed by Balkibekova, aiming to create imitation, social engagement and a wide range of emotions through brain development. Methods: A randomized controlled trial was conducted with 100 participants diagnosed with ASD, aged 1 to 4 years. Participants were randomly assigned to either the RITM therapy group or a control group receiving standard care. The RITM therapy, rooted in tapping rhythm to music such as: marche on the drums, waltz on bells, lullaby on musical triangle, dancing on tambourine, polka on wooden spoons. Therapy sessions were conducted over a 3 year period, with assessments at baseline, midpoint, and post-intervention. Results: Preliminary analyses reveal promising outcomes in the RITM therapy group. Participants demonstrated significant improvements in social interactions, speech understanding, birth of speech, and adaptive behaviors compared to the control group. Careful examination of subgroup analyses provides insights into the differential effectiveness of the RITM approach across various ASD profiles. Conclusions: The findings suggest that RITM therapy, as developed by Balkibekova, holds promise as intervention for ASD. The integrative nature of the approach, addressing multiple domains simultaneously, may contribute to its efficacy. Further research is warranted to validate these preliminary results and explore the long-term impact of RITM therapy on individuals with ASD. This abstract presents a snapshot of the research, emphasizing the significance, methodology, key findings, and implications of the RITM therapy method for consideration in an autism conference.

Keywords: RITM therapy, tapping rhythm, autism, mirror neurons, bright emotions, social interactions, communications

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Authors: G. Vici, L. Cesanelli, L. Belli, R. Ceci, V. Polzonetti

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Several factors contribute to success in sport and diet is one of them. Evidence-based sport nutrition guidelines underline the importance of macro- and micro-nutrients’ balance and timing in order to improve athlete’s physical status and performance. Nevertheless, a high content of proteins is commonly found in resistance training athletes’ diet with carbohydrate intake that is not enough or not well planned. The aim of the study was to evaluate the impact of different protein and carbohydrate diet contents on body composition and sport performance on a group of resistance training athletes. Subjects were divided as study group (n=16) and control group (n=14). For a period of 4 months, both groups were subjected to the same resistance training fitness program with study group following a specific diet and control group following an ab libitum diet. Body compositions were evaluated trough anthropometric measurement (weight, height, body circumferences and skinfolds) and Bioimpedence Analysis. Physical strength and training status of individuals were evaluated through the One Repetition Maximum test (RM1). Protein intake in studied group was found to be lower than in control group. There was a statistically significant increase of body weight, free fat mass and body mass cell of studied group respect to the control group. Fat mass remains almost constant. Statistically significant changes were observed in quadriceps and biceps circumferences, with an increase in studied group. The MR1 test showed improvement in study group’s strength but no changes in control group. Usually people consume hyper-proteic diet to achieve muscle mass development. Through this study, it was possible to show that protein intake fixed at 1,7 g/kg/d can meet the individual's needs. In parallel, the increased intake of carbohydrates, focusing on quality and timing of assumption, has enabled the obtainment of desired results with a training protocol supporting a hypertrophic strategy. Therefore, the key point seems related to the planning of a structured program both from a nutritional and training point of view.

Keywords: body composition, diet, exercise, protein

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Authors: Swarkar Sharma, Ekta Rai, Ankit Mahajan, Parvinder Kumar, Manoj K Dhar, Sushil Razdan, Kumarasamy Thangaraj, Carol Wise, Shiro Ikegawa M.D., K.K. Pandita M.D.

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Rare disorders are poorly understood hence, remain uncharacterized or patients are misdiagnosed and get poor medical attention. A rare mysterious skeletal disorder that remained unidentified for decades and rendered many people physically challenged and disabled for life has been reported in an isolated remote village ‘Arai’ of Poonch district of Jammu and Kashmir. This village is located deep in mountains and the population residing in the region is highly consanguineous. In our survey of the region, 70 affected people were reported, showing similar phenotype, in the village with a population of approximately 5000 individuals. We were able to collect samples from two multi generational extended families from the village. Through Whole Exome sequencing (WES), we identified a rare variation NM_003880.3:c.156C>A NP_003871.1:p.Cys52Ter, which results in introduction of premature stop codon in WISP3 gene. We found this variation perfectly segregating with the disease in one of the family. However, this variation was absent in other family. Interestingly, a novel splice site mutation at position c.643+1G>A of WISP3 gene, perfectly segregating with the disease was observed in the second family. Thus, exploiting WES and putting different evidences together (familial histories and genetic data, clinical features, radiological and biochemical tests and findings), the disease has finally been diagnosed as a very rare recessive hereditary skeletal disease “Progressive Pseudorheumatoid Arthropathy of Childhood” (PPAC) also known as “Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy” (SEDT-PA). This genetic characterization and identification of the disease causing mutations will aid in genetic counseling, critically required to curb this rare disorder and to prevent its appearance in future generations in the population. Further, understanding of the role of WISP3 gene the biological pathways should help in developing treatment for the disorder.

Keywords: whole exome sequencing, Next Generation Sequencing, rare disorders

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Authors: Fatemeh Rouhi, Hadi Nassiri

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Earning forecast is a key element in economic decisions but there are some situations, such as conflicts of interest in financial reporting, complexity and lack of direct access to information has led to the phenomenon of information asymmetry among individuals within the organization and external investors and creditors that appear. The adverse selection and moral hazard in the investor's decision and allows direct assessment of the difficulties associated with data by users makes. In this regard, the role of trustees in corporate governance disclosure is crystallized that includes controls and procedures to ensure the lack of movement in the interests of the company's management and move in the direction of maximizing shareholder and company value. Therefore, the earning forecast of companies in the capital market and the need to identify factors influencing this study was an attempt to make relationship between moral hazard and corporate governance with earning forecast quality companies operating in the capital market and its impact on Earnings Forecasts quality by the company to be established. Getting inspiring from the theoretical basis of research, two main hypotheses and sub-hypotheses are presented in this study, which have been examined on the basis of available models, and with the use of Panel-Data method, and at the end, the conclusion has been made at the assurance level of 95% according to the meaningfulness of the model and each independent variable. In examining the models, firstly, Chow Test was used to specify either Panel Data method should be used or Pooled method. Following that Housman Test was applied to make use of Random Effects or Fixed Effects. Findings of the study show because most of the variables are positively associated with moral hazard with earnings forecasts quality, with increasing moral hazard, earning forecast quality companies listed on the Tehran Stock Exchange is increasing. Among the variables related to corporate governance, board independence variables have a significant relationship with earnings forecast accuracy and earnings forecast bias but the relationship between board size and earnings forecast quality is not statistically significant.

Keywords: corporate governance, earning forecast quality, moral hazard, financial sciences

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Authors: Kwizera Mireille, Kharesh Ahmed Al-Khadher

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This paper explores the critical issue of girls' and women's right to education, exploring the challenges they face in accessing and benefiting from quality education. Gender disparities in education have persisted globally, hindering social progress and sustainable development. The fundamental importance of education in empowering individuals and promoting gender equality is acknowledged, making it imperative to address the disparities that hinder girls' and women's educational opportunities. The paper discusses various factors contributing to these disparities, including cultural norms(common in third-world countries), socio-economic constraints, and systemic biases. Drawing on a wide range of scholarly sources, empirical studies, and reports from international organizations, this paper highlights the broader societal benefits of educating girls and women, ranging from improved health outcomes to enhanced economic development and greater social and political participation. The paper further outlines strategies and initiatives aimed at overcoming these challenges. These include policy interventions, community-based programs, and international collaborations that work towards eliminating gender-based discrimination in educational settings. The paper emphasizes the significance of not only ensuring access but also fostering an inclusive and safe learning environment that encourages girls and women to thrive academically and personally. By analyzing successful case studies and best practices from around the world, the paper offers insights into effective approaches that can be adopted to enhance girls' and women's right to education globally. Furthermore, it emphasizes the importance of raising awareness of girl's and women's education. In conclusion, this paper underscores the urgency of prioritizing and protecting the educational rights of girls and women's right to education as a fundamental human right and catalyst for gender equality. It calls for a concerted effort from governments, NGOs, educational institutions, and society as a whole to create an equitable and empowering educational landscape that contributes to gender equality and sustainable development.

Keywords: empowerment, gender equality, inclusive education, right to education

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Authors: Clifford Lewis

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This paper aims to advance the conversation of an alternative view of leadership, namely ‘leadership as the management of meaning’. Here, leadership is considered as a social process of the management of meaning within an employment context, as opposed to a psychological trait, set of behaviours or relational consequence as seen in mainstream leadership research. Specifically, this study explores the relationship between intersectional identities and the management of meaning. Design: Semi-structured, one-on-one interviews were conducted with women and men of colour working in the South African private sector organisations in various leadership positions. Employing an intersectional approach using gender and race, participants were selected by using purposive and snowball sampling concurrently. Thematic and Axial coding was used to identify dominant themes. Findings: Findings suggest that, both gender and race shape how leaders manage meaning. Findings also confirm that intersectionality is an appropriate approach when studying the leadership experiences of those groups who are underrepresented in organisational leadership structures. The findings points to the need for further research into the differential effects of intersecting identities on organisational leadership experiences and that ‘leadership as the management of meaning’ is an appropriate approach for addressing this knowledge gap. Theoretical Contribution: There is a large body of literature on the complex challenges faced by women and people of colour in leadership but there is relatively little empirical work on how identity influences the management of meaning. This study contributes to the leadership literature by providing insight into how intersectional identities influence the management of meaning at work and how this impacts the leadership experiences of largely marginalised groups. Practical Implications: Understanding the leadership experiences of underrepresented groups is important because of both legal mandates and for building diverse talent for organisations and societies. Such an understanding assists practitioners in being sensitive to simplistic notions of challenges individuals might face in accessing and practicing leadership in organisations. Advancing the conversation on leadership as the management of meaning allows for a better understanding of complex challenges faced by women and people of colour and an opportunity for organisations to systematically remove unfair structural obstacles and develop their diverse leadership capacity.

Keywords: intersectionality, diversity, leadership, sensemaking

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Authors: Cesar Augusto Hoil Rosas, José Luis Vázquez Burgos, José Juan Carbajal Hernandez

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White fish (Chirostoma estor estor) is an endemic species that habits in the Patzcuaro Lake, located in Michoacan, Mexico; being an important source of gastronomic and cultural wealth of the area. Actually, it have undergone an immense depopulation of individuals, due to the high fishing, contamination and eutrophication of the lake water, resulting in the possible extinction of this important species. This work proposes a new computational model for monitoring and assessment of critical environmental parameters of the white fish ecosystem. According to an Analytical Hierarchy Process, a mathematical model is built assigning weights to each environmental parameter depending on their water quality importance on the ecosystem. Then, a development of an advanced system for the monitoring, analysis and control of water quality is built using the virtual environment of LabVIEW. As results, we have obtained a global score that indicates the condition level of the water quality in the Chirostoma estor ecosystem (excellent, good, regular and poor), allowing to provide an effective decision making about the environmental parameters that affect the proper culture of the white fish such as temperature, pH and dissolved oxygen. In situ evaluations show regular conditions for a success reproduction and growth rates of this species where the water quality tends to have regular levels. This system emerges as a suitable tool for the water management, where future laws for white fish fishery regulations will result in the reduction of the mortality rate in the early stages of development of the species, which represent the most critical phase. This can guarantees better population sizes than those currently obtained in the aquiculture crop. The main benefit will be seen as a contribution to maintain the cultural and gastronomic wealth of the area and for its inhabitants, since white fish is an important food and economical income of the region, but the species is endangered.

Keywords: Chirostoma estor estor, computational system, lab view, white fish

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Authors: Swathi Ganesan, Nalinda Somasiri, Rebecca Jeyavadhanam, Gayathri Karthick

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The COVID-19 crisis presents a substantial and critical hazard to worldwide health. Since the occurrence of the disease in late January 2020 in the UK, the number of infected people confirmed to acquire the illness has increased tremendously across the country, and the number of individuals affected is undoubtedly considerably high. The purpose of this research is to figure out a predictive machine learning archetypal that could forecast COVID-19 cases within the UK. This study concentrates on the statistical data collected from 31st January 2020 to 31st March 2021 in the United Kingdom. Information on total COVID cases registered, new cases encountered on a daily basis, total death registered, and patients’ death per day due to Coronavirus is collected from World Health Organisation (WHO). Data preprocessing is carried out to identify any missing values, outliers, or anomalies in the dataset. The data is split into 8:2 ratio for training and testing purposes to forecast future new COVID cases. Support Vector Machines (SVM), Random Forests, and linear regression algorithms are chosen to study the model performance in the prediction of new COVID-19 cases. From the evaluation metrics such as r-squared value and mean squared error, the statistical performance of the model in predicting the new COVID cases is evaluated. Random Forest outperformed the other two Machine Learning algorithms with a training accuracy of 99.47% and testing accuracy of 98.26% when n=30. The mean square error obtained for Random Forest is 4.05e11, which is lesser compared to the other predictive models used for this study. From the experimental analysis Random Forest algorithm can perform more effectively and efficiently in predicting the new COVID cases, which could help the health sector to take relevant control measures for the spread of the virus.

Keywords: COVID-19, machine learning, supervised learning, unsupervised learning, linear regression, support vector machine, random forest

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Authors: Taha Anjamrooz, Sareh Rajabi, Hasan Mahmmud, Ghassan Abulebdeh

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Water availability, as well as water demand, are not uniformly distributed in time and space. Numerous extra-large water diversion projects are launched in Amazon to alleviate water scarcities. This research utilizes statistical analysis to examine the temporal and spatial features of 40 extra-large water diversion projects in Amazon. Using a network analysis method, the correlation between seven major basins is measured, while the impact analysis method is employed to explore the associated economic, environmental, and social impacts. The study unearths that the development of water diversion in Amazon has witnessed four stages, from a preliminary or initial period to a phase of rapid development. It is observed that the length of water diversion channels and the quantity of water transferred have amplified significantly in the past five decades. As of 2015, in Amazon, more than 75 billion m³ of water was transferred amidst 12,000 km long channels. These projects extend over half of the Amazon Area. The River Basin E is currently the most significant source of transferred water. Through inter-basin water diversions, Amazon gains the opportunity to enhance the Gross Domestic Product (GDP) by 5%. Nevertheless, the construction costs exceed 70 billion US dollars, which is higher than any other country. The average cost of transferred water per unit has amplified with time and scale but reduced from western to eastern Amazon. Additionally, annual total energy consumption for pumping exceeded 40 billion kilowatt-hours, while the associated greenhouse gas emissions are assessed to be 35 million tons. Noteworthy to comprehend that ecological problems initiated by water diversion influence the River Basin B and River Basin D. Due to water diversion, more than 350 thousand individuals have been relocated, away from their homes. In order to enhance water diversion sustainability, four categories of innovative measures are provided for decision-makers: development of water tradeoff projects strategies, improvement of integrated water resource management, the formation of water-saving inducements, and pricing approach, and application of ex-post assessment.

Keywords: sustainability, water trade-off projects, environment, Amazon

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Authors: Atousa Khodadadyan, Gabe Mythen, Hirbod Assa, Beverley Bishop

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Risk assessment and the knowledge provided through this process is a crucial part of any decision-making process in the management of risks and uncertainties. Failure in assessment of risks can cause inadequacy in the entire process of risk management, which in turn can lead to failure in achieving organisational objectives as well as having significant damaging consequences on populations affected by the potential risks being assessed. The choice of tools and techniques in risk assessment can influence the degree and scope of decision-making and subsequently the risk response strategy. There are various available qualitative and quantitative tools and techniques that are deployed within the broad process of risk assessment. The sheer diversity of tools and techniques available to practitioners makes it difficult for organisations to consistently employ the most appropriate methods. This tools and techniques adaptation is rendered more difficult in public risk regulation organisations due to the sensitive and complex nature of their activities. This is particularly the case in areas relating to the environment, food, and human health and safety, when organisational goals are tied up with societal, political and individuals’ goals at national and international levels. Hence, recognising, analysing and evaluating different decision support tools and techniques employed in assessing risks in public risk management organisations was considered. This research is part of a mixed method study which aimed to examine the perception of risk assessment and the extent to which organisations practise risk assessment’ tools and techniques. The study adopted a semi-structured questionnaire with qualitative and quantitative data analysis to include a range of public risk regulation organisations from the UK, Germany, France, Belgium and the Netherlands. The results indicated the public risk management organisations mainly use diverse tools and techniques in the risk assessment process. The primary hazard analysis; brainstorming; hazard analysis and critical control points were described as the most practiced risk identification techniques. Within qualitative and quantitative risk analysis, the participants named the expert judgement, risk probability and impact assessment, sensitivity analysis and data gathering and representation as the most practised techniques.

Keywords: decision-making, public risk management organisations, risk assessment, tools and techniques

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Authors: Rofida Gamal, Mostafa Mohammed, Mariam Adel, Marwa Gamal, Marwa kamal, Ayat Saber, Maha Mamdouh, Amira Emad, Mai Ramadan

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Lynch Syndrome is an inherited genetic condition associated with an increased risk of colorectal and other cancers. Detecting Lynch Syndrome in individuals is crucial for early intervention and preventive measures. This study proposes a computational pipeline for Lynch Syndrome detection by integrating alignment, variant calling, and annotation. The pipeline leverages popular tools such as FastQC, Trimmomatic, BWA, bcftools, and ANNOVAR to process the input FASTQ file, perform quality trimming, align reads to the reference genome, call variants, and annotate them. It is believed that the computational pipeline was applied to a dataset of Lynch Syndrome cases, and its performance was evaluated. It is believed that the quality check step ensured the integrity of the sequencing data, while the trimming process is thought to have removed low-quality bases and adaptors. In the alignment step, it is believed that the reads were accurately mapped to the reference genome, and the subsequent variant calling step is believed to have identified potential genetic variants. The annotation step is believed to have provided functional insights into the detected variants, including their effects on known Lynch Syndrome-associated genes. The results obtained from the pipeline revealed Lynch Syndrome-related positions in the genome, providing valuable information for further investigation and clinical decision-making. The pipeline's effectiveness was demonstrated through its ability to streamline the analysis workflow and identify potential genetic markers associated with Lynch Syndrome. It is believed that the computational pipeline presents a comprehensive and efficient approach to Lynch Syndrome detection, contributing to early diagnosis and intervention. The modularity and flexibility of the pipeline are believed to enable customization and adaptation to various datasets and research settings. Further optimization and validation are believed to be necessary to enhance performance and applicability across diverse populations.

Keywords: Lynch Syndrome, computational pipeline, alignment, variant calling, annotation, genetic markers

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Authors: David Sarpong, Waleed Khursheed, Ernest Danquah, Erin Murphy

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Shigella is a pathogenic bacterium responsible for shigellosis, a severe diarrheal disease that claims the lives of immunocompromised individuals worldwide. To develop therapeutics against this disease, an understanding of the molecular mechanisms underlying the pathogen’s physiology is crucial. Small non-coding RNAs (sRNAs) have emerged as important regulators of bacterial physiology, including as components of toxin-antitoxin systems. In this study, we investigated the role of RyfA in S. flexneri physiology and virulence. RyfA, originally identified as an sRNA in Escherichia coli, is conserved within the Enterobacteriaceae family, including Shigella. Whereas two copies of ryfA are present in S. dysenteriae, all other Shigella species contain only one copy of the gene. Additionally, we identified a putative open reading frame within the RyfA transcript, suggesting that it may be a dual-functioning gene encoding a small protein in addition to its sRNA function. To study ryfA in vitro, we cloned the gene into an inducible plasmid and observed the effect on bacterial growth. Here, we report that RyfA production inhibits the growth of S. flexneri, and this inhibition is dependent on the contained open reading frame. In-silico analyses have revealed the presence of two divergently transcribed sRNAs, RyfB1 and RyfB2, which share nucleotide complementarity with RyfA and thus are predicted to function as anti-toxins. Our data demonstrate that RyfB2 has a stronger antitoxin effect than RyfB1. This regulatory pattern suggests a novel form of a toxin-antitoxin system in which the activity of a single toxin is inhibited to varying degrees by two sRNA antitoxins. Studies are ongoing to investigate the regulatory mechanism(s) of the antitoxin genes, as well as the downstream targets and mechanism of growth inhibition by the RyfA toxin. This study offers distinct insights into the regulatory mechanisms underlying Shigella physiology and may inform the development of new anti-Shigella therapeutics.

Keywords: sRNA, shigella, toxin-antitoxin, Type 1 toxin antitoxin

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