Search results for: Richard Morris

Authors: Van Thang Nguyen, Amelie Danlos, Richard Paridaens, Farid Bakir

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This article presents a study of the effect of a contra-rotating component on the efficiency of centrifugal compressors. A contra-rotating centrifugal compressor (CRCC) is constructed using two independent rotors, rotating in the opposite direction and replacing the single rotor of a conventional centrifugal compressor (REF). To respect the geometrical parameters of the REF one, two rotors of the CRCC are designed, based on a single rotor geometry, using the hub and shroud length ratio parameter of the meridional contour. Firstly, the first rotor is designed by choosing a value of length ratio. Then, the second rotor is calculated to be adapted to the fluid flow of the first rotor according aerodynamics principles. In this study, four values of length ratios 0.3, 0.4, 0.5, and 0.6 are used to create four configurations CF1, CF2, CF3, and CF4 respectively. For comparison purpose, the circumferential velocity at the outlet of the REF and the CRCC are preserved, which means that the single rotor of the REF and the second rotor of the CRCC rotate with the same speed of 16000rpm. The speed of the first rotor in this case is chosen to be equal to the speed of the second rotor. The CFD simulation is conducted to compare the performance of the CRCC and the REF with the same boundary conditions. The results show that the configuration with a higher length ratio gives higher pressure rise. However, its efficiency is lower. An investigation over the entire operating range shows that the CF1 is the best configuration in this case. In addition, the CRCC can improve the pressure rise as well as the efficiency by changing the speed of each rotor independently. The results of changing the first rotor speed show with a 130% speed increase, the pressure ratio rises of 8.7% while the efficiency remains stable at the flow rate of the design operating point.

Keywords: centrifugal compressor, contra-rotating, interaction rotor, vacuum

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Authors: Richard I. Licayan, Aisle Janne B. Dagpin, Romeo M. Del Rosario, Nenita D. Palmes

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Hiptage benghalensis, Antigonon leptopus, Macroptillium atropurpureum, and Dioscorea bulbifera L. are herbal weeds that have been used by traditional healers in rural communities in the Philippines as medicine. In this study, the basic pharmacological components of the crude secondary metabolites extracted from the four herbal weeds and their in vitro antioxidant properties was investigated to provide baseline data for the possible development of these metabolites in pharmaceutical products. Qualitative screening of the secondary metabolites showed that alkaloids, tannins, saponins, steroids, and flavonoids were present in their leaf extracts. All of the plant extracts showed varied antioxidant activity. The greatest DPPH radical scavenging activity was observed in H. begnhalensis (84.64%), followed by A. leptopus (68.21%), M. atropurpureum (26.62%), and D. bulbifera L. (19.04%). The FRAP assay revealed that H. benghalensis had the highest antioxidant activity (8.32 mg/g) while ABTS assay showed that M. atropurpureum had the strongest scavenging ability of free radicals (0.0842 mg Trolox/g). The total flavonoid content (TFC) analysis showed that D. bulbifera L. had the highest TFC (420.35 mg quercetin per gram-dried material). The total phenolic content (TPC) of the four herbal weeds showed large variations, between 26.56±0.160 and 55.91±0.087 mg GAE/g dried material. The plant leaf extracts arranged in increasing values of TPC are H. benghalensis (26.565) < A. leptopus (37.29) < D. bulbifera L. (46.81) < M. atropurpureum (55.91). The obtained results may support their use in herbal medicine and as baseline data for the development of new drugs and standardized phytomedicines.

Keywords: antioxidant properties, total flavonoids, total phenolics, creeping herbal weeds

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Authors: Nana Segu Acquaah-Harrison, James Osei Mensah, Richard Aidoo, David Amponsah, Amy Buah, Gilbert Aboagye

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The study aimed at assessing the feasibility of commercial meat rabbit production in the Kumasi Metropolis of Ghana. Structured and unstructured questionnaires were utilized in obtaining information from two hundred meat consumers and 15 meat rabbit farmers. Data were analyzed using Net Present Value (NPV), Internal Rate of Return (IRR), Benefit Cost Ratio (BCR)/Profitability Index (PI) technique, percentages and chi-square contingency test. The study found that the current demand for rabbit meat is low (36%). The desirable nutritional attributes of rabbit meat and other socio economic factors of meat consumers make the potential demand for rabbit meat high (69%). It was estimated that GH¢5,292 (approximately $ 2672) was needed as a start-up capital for a 40-doe unit meat rabbit farm in Kumasi Metropolis. The cost of breeding animals, housing and equipment formed 12.47%, 53.97% and 24.87% respectively of the initial estimated capital. A Net Present Value of GH¢ 5,910.75 (approximately $ 2984) was obtained at the end of the fifth year, with an internal rate return and profitability index of 70% and 1.12 respectively. The major constraints identified in meat rabbit production were low price of rabbit meat, shortage of fodder, pest and diseases, high cost of capital, high cost of operating materials and veterinary care. Based on the analysis, it was concluded that meat rabbit production is feasible in the Kumasi Metropolis of Ghana. The study recommends embarking on mass advertisement; farmer association and adapting to new technologies in the production process will help to enhance productivity.

Keywords: feasibility, commercial meat rabbit, production, Kumasi, Ghana

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Authors: Valencia Fernandes, Dharmendra Kumar Khatri, Shashi Bala Singh

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Background and Aim: Epigenetics are the inaudible signatures of several pathological processes in the brain. This study understands the influence of DNA methylation, a major epigenetic modification, in the prefrontal cortex and hippocampus of the diabetic brain and its notable effect on the cellular chaperones and synaptic proteins. Method: Chronic high fat diet and STZ-induced diabetic mice were studied for cognitive dysfunction, and global DNA methylation, as well as DNA methyltransferase (DNMT) activity, were assessed. Further, the cellular chaperones and synaptic proteins were examined using DNMT inhibitor, 5-aza-2′-deoxycytidine (5-aza-dC)-via intracerebroventricular injection. Moreover, % methylation of these synaptic proteins were also studied so as to correlate its epigenetic involvement. Computationally, its interaction with the DNMT enzyme were also studied using bioinformatic tools. Histological studies for morphological alterations and neuronal degeneration were also studied. Neurogenesis, a characteristic marker for new learning and memory formation, was also assessed via the BrdU staining. Finally, the most important behavioral studies, including the Morris water maze, Y maze, passive avoidance, and Novel object recognition test, were performed to study its cognitive functions. Results: Altered global DNA methylation and increased levels of DNMTs within the nucleus were confirmed in the cortex and hippocampus of the diseased mice, suggesting hypermethylation at a genetic level. Treatment with AzadC, a global DNA demethylating agent, ameliorated the protein and gene expression of the cellular chaperones and synaptic fidelity. Furthermore, the methylation analysis profile showed hypermethylation of the hsf1 protein, a master regulator for chaperones and thus, confirmed the epigenetic involvement in the diseased brain. Morphological improvements and decreased neurodegeneration, along with enhanced neurogenesis in the treatment group, suggest that epigenetic modulations do participate in learning and memory. This is supported by the improved behavioral test battery seen in the treatment group. Conclusion: DNA methylation could possibly accord in dysregulating the memory-associated proteins at chronic stages in type 2 diabetes. This could suggest a substantial contribution to the underlying pathophysiology of several metabolic syndromes like insulin resistance, obesity and also participate in transitioning this damage centrally, such as cognitive dysfunction.

Keywords: epigenetics, cognition, chaperones, DNA methylation

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Authors: Alina Goldberg Cavalleri, Sara Franco Ortega, Nawaporn Onkokesung, Richard Dale, Melissa Brazier-Hicks, Robert Edwards

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Non-target site based resistance (NTSR) to herbicides in weeds is a polygenic trait associated with the upregulation of proteins involved in xenobiotic detoxification and translocation we have termed the xenome. Among the xenome proteins, ABC transporters play a key role in enhancing herbicide metabolism by effluxing conjugated xenobiotics from the cytoplasm into the vacuole. The importance of ABC transporters is emphasized by the fact that they often contribute to multidrug resistance in human cells and antibiotic resistance in bacteria. They also play a key role in insecticide resistance in major vectors of human diseases and crop pests. By surveying available databases, transcripts encoding ABCs have been identified as being enhanced in populations exhibiting NTSR in several weed species. Based on a transcriptomics data in black grass (Alopecurus myosuroides, Am), we have identified three proteins from the ABC-C subfamily that are upregulated in NTSR populations. ABC-C transporters are poorly characterized proteins in plants, but in Arabidopsis localize to the vacuolar membrane and have functional roles in transporting glutathionylated (GSH)-xenobiotic conjugates. We found that the up-regulation of AmABCs strongly correlates with the up-regulation of a glutathione transferase termed AmGSTU2, which can conjugate GSH to herbicides. The expression profile of the ABC transcripts was profiled in populations of black grass showing different degree of resistance to herbicides. This, together with a phylogenetic analysis, revealed that AmABCs cluster in different groups which might indicate different substrate and roles in the herbicide resistance phenotype in the different populations

Keywords: black grass, herbicide, resistance, transporters

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Authors: M. M. Essa, S. Subash, M. Akbar, S. Al-Adawi, A. Al-Asmi, G. J. Guillemein

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Transgenic (tg) mice which contain an amyloid precursor protein (APP) gene mutation, develop extracellular amyloid beta (Aβ) deposition in the brain, and severe memory and behavioral deficits with age. These mice serve as an important animal model for testing the efficacy of novel drug candidates for the treatment and management of symptoms of Alzheimer's disease (AD). Several reports have suggested that oxidative stress is the underlying cause of Aβ neurotoxicity in AD. Date palm fruits contain very high levels of antioxidants and several medicinal properties that may be useful for improving the quality of life in AD patients. In this study, we investigated the effect of dietary supplementation of Omani date palm fruits on the memory, anxiety and learning skills along with inflammation in an AD mouse model containing the double Swedish APP mutation (APPsw/Tg2576). The experimental groups of APP-transgenic mice from the age of 4 months were fed custom-mix diets (pellets) containing 2% and 4% Date palm fruits. We assessed spatial memory and learning ability, psychomotor coordination, and anxiety-related behavior in Tg and wild-type mice at the age of 4-5 months and 18-19 months using the Morris water maze test, rota rod test, elevated plus maze test, and open field test. Further, inflammatory parameters also analyzed. APPsw/Tg2576 mice that were fed a standard chow diet without dates showed significant memory deficits, increased anxiety-related behavior, and severe impairment in spatial learning ability, position discrimination learning ability and motor coordination along with increased inflammation compared to the wild type mice on the same diet, at the age of 18-19 months In contrast, PPsw/Tg2576 mice that were fed a diet containing 2% and 4% dates showed a significant improvements in memory, learning, locomotor function, and anxiety with reduced inflammatory markers compared to APPsw/Tg2576 mice fed the standard chow diet. Our results suggest that dietary supplementation with dates may slow the progression of cognitive and behavioral impairments in AD. The exact mechanism is still unclear and further extensive research needed.

Keywords: Alzheimer's disease, date palm fruits, Oman, cognitive decline, memory loss, anxiety, inflammation

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Authors: Richard Krijnen, Alan Wang

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As the world is aiming to reach net zero around 2050, structural engineers must begin finding solutions to contribute to this global initiative. Approximately 40% of global energy-related emissions are due to buildings and construction, and a building’s structure accounts for 50% of its embodied carbon, which indicates that structural engineers are key contributors to finding solutions to reach carbon neutrality. However, this task presents a multifaceted challenge as structural engineers must navigate technical, safety and economic considerations while striving to reduce emissions. This study reviews several options and considerations to reduce carbon emissions that structural engineers can use in their future designs without compromising the structural integrity of their proposed design. Low-carbon structures should adhere to several guiding principles. Firstly, prioritize the selection of materials with low carbon footprints, such as recyclable or alternative materials. Optimization of design and engineering methods is crucial to minimize material usage. Encouraging the use of recyclable and renewable materials reduces dependency on natural resources. Energy efficiency is another key consideration involving the design of structures to minimize energy consumption across various systems. Choosing local materials and minimizing transportation distances help in reducing carbon emissions during transport. Innovation, such as pre-fabrication and modular design or low-carbon concrete, can further cut down carbon emissions during manufacturing and construction. Collaboration among stakeholders and sharing experiences and resources are essential for advancing the development and application of low-carbon structures. This paper identifies current available tools and solutions to reduce embodied carbon in structures, which can be used as part of daily structural engineering practice.

Keywords: efficient structural design, embodied carbon, low-carbon material, sustainable structural design

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Authors: Iacopo Carnacina, Mohammad Keshtpoor, Richard Yablonsky

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Non-structural protection measures against flooding are becoming increasingly popular flood risk mitigation strategies. In particular, coastal flood insurance impacts not only private citizens but also insurance and reinsurance companies, who may require it to retain solvency and better understand the risks they face from a catastrophic coastal flood event. In this context, a framework is presented here to assess the risk for coastal flooding across the UK. The area has a long history of catastrophic flood events, including the Great Flood of 1953 and the 2013 Cyclone Xaver storm, both of which led to significant loss of life and property. The current framework will leverage a technology based on a hydrodynamic model (Delft3D Flexible Mesh). This flexible mesh technology, coupled with a calibration technique, allows for better utilisation of computational resources, leading to higher resolution and more detailed results. The generation of a stochastic set of extra tropical cyclone (ETC) events supports the evaluation of the financial losses for the whole area, also accounting for correlations between different locations in different scenarios. Finally, the solution shows a detailed analysis for the Thames River, leveraging the information available on flood barriers and levees. Two realistic disaster scenarios for the Greater London area are simulated: In the first scenario, the storm surge intensity is not high enough to fail London’s flood defences, but in the second scenario, London’s flood defences fail, highlighting the potential losses from a catastrophic coastal flood event.

Keywords: storm surge, stochastic model, levee failure, Thames River

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Authors: Mónika Ditta Tóth, Ádám Fritz, Balázs Hankó, György Purebl

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Communication training about depression and suicide prevention for pharmacists – A Hungarian pilot study Mónika Ditta Tóth1, Ádám Fritz2, Balázs Hankó2, György Purebl1 1: Semmelweis University, Institute of Behavioural Sciences 2: Semmelweis University, University Pharmacy Department of Pharmacy Administration Background: Suicide rates in Hungary have been one of the highest in the European Union. Depression is one of the main risk factors for suicide and recognizing and treating depression is an effective way to prevent suicidal behaviour. In their daily practice, pharmacists meet patients with high risk of mental health problems. Therefore they have a key role in the prevention of depression and suicide. Aim: The main aim of this study is to raise pharmacists’ awareness about depression and suicide to enable better recognation of verbal and non-verbal signs of these deseases. Another important objective is to reduce their stigma about depression and increase their confidence in communication with depressed and/or suicidal patients. Methods: A 3-hour communication workshop has been delivered in this pilot study about the reasons, trigger factors, verbal and non-verbal signs of depression and suicide. The training includes communication techniques which have been developed to patients needs, as well as role-playing scenarios. Depression Stigma and Morris Confidence Scales were applied before, after and 6 weeks following the training. The results of the training group are then compared with two of the following pharmacist groups: 1. written material only (N=15), 2. no material (N=15). Results: One-way ANOVA revealed significant differences in the training group regarding the level of confidence in treating and communicating with patients with depression and/or suicide following the training, and after 6 weeks (F(2, 24)= 7,135, p=,004; baseline: 20,37, after training: 30,00, follow up: 27,66). After the 3-hour workshop the personal stigma about depression decreased (baselin: 19,75 after training: 17,00, p=0,075) in the training group (N=9), whilst the perceived stigma did not change (before: 33.54, after: 33,44, p=NS). Trainees assessed the workshop as ‘useful’ and ‘gap filling’. No significant differences was found in the group of pharmacisists who got written material only. Conclusions: Despite the high rates of depression and suicide in Hungary, pharmacists do not receive lectures or seminars about mental health during their university studies. Such half-day workshops could fill this gap and give practical help to recognize and communicate with depressed and/or suicidal patients in a more effective way. This way pharmacists, as community gate-keepers, could contribute to a more effective suicide prevention program in Hungary.

Keywords: communication training, pharmacists, depression, suicide

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Authors: Gerardo Arias, Richard Wall, Jamie Stevens

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Lucilia bufonivora Moniez, is an obligate parasite of toads and frogs widely distributed in Europe. Its sister taxon Lucilia silvarum Meigen behaves mainly as a carrion breeder in Europe, however it has been reported as a facultative parasite of amphibians. These two closely related species are morphologically almost identical, which has led to misidentification, and in fact, it has been suggested that the amphibian myiasis cases by L. silvarum reported in Europe should be attributed to L. bufonivora. Both species remain poorly studied and their taxonomic relationships are still unclear. The identification of the larval specimens involved in amphibian myiasis with molecular tools and phylogenetic analysis of these two closely related species may resolve this problem. In this work seventeen unidentified larval specimens extracted from toad myiasis cases of the UK, the Netherlands and Switzerland were obtained, their COX1 (mtDNA) and EF1-α (Nuclear DNA) gene regions were amplified and then sequenced. The 17 larval samples were identified with both molecular markers as L. bufonivora. Phylogenetic analysis was carried out with 10 other blowfly species, including L. silvarum samples from the UK and USA. Bayesian Inference trees of COX1 and a combined-gene dataset suggested that L. silvarum and L. bufonivora are separate sister species. However, the nuclear gene EF1-α does not appear to resolve their relationships, suggesting that the rates of evolution of the mtDNA are much faster than those of the nuclear DNA. This work provides the molecular evidence for successful identification of L. bufonivora and a molecular analysis of the populations of this obligate parasite from different locations across Europe. The relationships with L. silvarum are discussed.

Keywords: calliphoridae, molecular evolution, myiasis, obligate parasitism

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Authors: Richard Briginshaw, Hana Alaojeli, Javaria Ahmad, Hamza Gaffar, Nourtan Murad

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Sustainable renovations to cultural buildings and sites require a high level of competency in the sometimes conflicting areas of social/historical demands, environmental concerns, and the programmatic and technical requirements of the project. A detailed analysis of the existing site, building and client program are critical to reveal both challenges and opportunities. This forms the starting point for the design process – empirical explorations that search for a balanced and inspired architectural solution to the project. The Red Bay National Historic Site on the Labrador Coast of eastern Canada is a challenging project to explore and resolve these ideas. Originally the site of a 16ᵗʰ century whaling station occupied by Basque sailors from France and Spain, visitors now experience this history at the interpretive center, along with the unique geography, climate, local culture and vernacular architecture of the area. Working with our client, Parks Canada, the project called for significant alterations and expansion to the existing facility due to an increase in the number of annual visitors. Sustainable aspects of the design are focused on sensitive site development, passive energy strategies such as building orientation and building envelope efficiency, active renewable energy systems, carefully considered material selections, water efficiency, and interiors that respond to human comfort and a unique visitor experience.

Keywords: sustainability, renovations and expansion, cultural project, architectural design, green building

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Authors: Shian-Ling Keng, Onn Siong Yim, Poh San Lai, Soo Chong Chew, Anne Chong, Richard Ebstein

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Research has demonstrated a positive association between mindfulness meditation and physical health. Little work, however, has examined the association between trait mindfulness and leukocyte telomere length (LTL), an emerging marker of cellular aging. The present study aimed to examine whether facets of trait mindfulness are correlated with longer LTL in a Singaporean Han Chinese sample and whether these facets may mediate the association between psychological symptoms and LTL. 158 adults (mean age = 27.24 years) completed measures assessing trait mindfulness and psychological symptoms (i.e., depression and stress) and provided blood samples for analyses of LTL using qPCR. Multiple regression analyses were conducted to assess the association between facets of trait mindfulness and LTL. Bootstrapping-based mediational analyses were run to examine the role of trait mindfulness as a mediator of the association between psychological symptoms and LTL. Of five facets of trait mindfulness (describe, act with awareness, observe, nonreactivity, and nonjudging), nonreactivity was significantly associated with LTL, after controlling for the effects of age, gender, and education, β = .21, p = .006. Further, there was a trend for overall trait mindfulness, β = .15, p = .06, and nonjudging, β = .13, p = .095, to each predict longer LTL. Nonreactivity significantly mediated the association between depression and LTL, BCa 95% CI [-.004, -.0004], p=.03, as well as the association between stress and LTL, BCa 95% CI [-.004, -.0004], p=.04. The results provide preliminary evidence for a positive association between selected facets of trait mindfulness and slower cellular aging, indexed by LTL. The findings suggest that individuals who are high on equanimity may experience slower aging at the cellular level, presumably through engaging in more effective coping mechanisms and modulation of stress. The findings also highlight the role of nonreactivity as a potential mechanism that underlies the association between LTL and psychological symptoms.

Keywords: depression, mindfulness, stress, telomere length

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Authors: Richard Patrick Kabuye

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This study focuses on the addressing the enhancement of in-service training programs as a tool of transforming the existing traditional approaches of formal lectures/contact hours. This will be supported with a more versatile, robust, and remotely accessible means of mobile based e-learning, as a support tool for the traditional means. A combination of various factors in education and incorporation of the eLearning strategy proves to be a key factor in effective in-service education. Key factor needs to be factored in so as to maintain a credible co-existence of the programs, with the prevailing social, economic and political environments. Effective in-service education focuses on having immediate transformation of knowledge into practice for a good time period, active participation of attendees, enable before training planning, in training assessment and post training feedback training analysis which will yield knowledge to the trainers of the applicability of knowledge given out. All the above require a more robust approach to attain success in implementation. Incorporating mobile technology in eLearning will enable the above to be factored together in a more coherent manner, as it is evident that participants have to take time off their duties and attend to these training programs. Making it mobile, will save a lot of time since participants would be in position to follow certain modules while away from lecture rooms, get continuous program updates after completing the program, send feedback to instructors on knowledge gaps, and a wholly conclusive evaluation of the entire program on a learn as you work platform. This study will follow both qualitative and quantitative approaches in data collection, and this will be compounded incorporating a mobile eLearning application using Android.

Keywords: in service, training, mobile, e- learning, model

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Authors: Henrique Fernandes, Sofia Catalucci, Richard Leach, Kapil Sugand

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Background: Holograms are 3D images formed by the interference of light beams from a laser or other coherent light source. Pepper’s ghost is a form of hologram conceptualised in the 18th century. This Holographic visualisation with metrology measuring techniques by displaying measurements taken in real-time in holographic form can assist in research and education. New structural designs such as the Plexiglass Stand and the Hologram Box can optimise the holographic experience. Method: The equipment used included: (i) Zeiss’s ATOS Core 300 optical coordinate measuring instrument that scanned real-world objects; (ii) Cloud Compare, open-source software used for point cloud processing; and (iii) Hologram Box, designed and manufactured during this research to provide the blackout environment needed to display 3D point clouds in real-time measurements in holographic format, in addition to a portability aspect to holograms. The equipment was tailored to realise the goal of displaying measurements in an innovative technique and to improve on conventional methods. Three test scans were completed before doing a holographic conversion. Results: The outcome was a precise recreation of the original object in the holographic form presented with dense point clouds and surface density features in a colour map. Conclusion: This work establishes a way to visualise data in a point cloud system. To our understanding, this is a work that has never been attempted. This achievement provides an advancement in holographic visualisation. The Hologram Box could be used as a feedback tool for measurement quality control and verification in future smart factories.

Keywords: holography, 3D scans, hologram box, metrology, point cloud

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Authors: Mojtaba Fayaz, Richard Hallal

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This study examines the various types of dangers that our virtual environment is vulnerable to, including how it can be attacked and how to avoid/secure our data. The terrain of cyberspace is never completely safe, and Covid- 19 has added to the confusion, necessitating daily periodic checks and evaluations. Cybercriminals have been able to enact with greater skill and undertake more conspicuous and sophisticated attacks while keeping a higher level of finesse by operating from home. Different types of cyberattacks, such as operation-based attacks, authentication-based attacks, and software-based attacks, are constantly evolving, but research suggests that software-based threats, such as Ransomware, are becoming more popular, with attacks expected to increase by 93 percent by 2020. The effectiveness of cyber frameworks has shifted dramatically as the pandemic has forced work and private life to become intertwined, destabilising security overall and creating a new front of cyber protection for security analysis and personal. The high-rise formats in which cybercrimes are carried out, as well as the types of cybercrimes that exist, such as phishing, identity theft, malware, and DDoS attacks, have created a new front of cyber protection for security analysis and personal safety. The overall strategy for 2022 will be the introduction of frameworks that address many of the issues associated with offsite working, as well as education that provides better information about commercialised software that does not provide the highest level of security for home users, allowing businesses to plan better security around their systems.

Keywords: cyber security, authentication, software, hardware, malware, COVID-19, threat actors, awareness, home users, confidentiality, integrity, availability, attacks

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Authors: Przemyslaw Nogly, Tobias Weinert, Daniel James, Sergio Carbajo, Dmitry Ozerov, Antonia Furrer, Dardan Gashi, Veniamin Borin, Petr Skopintsev, Kathrin Jaeger, Karol Nass, Petra Bath, Robert Bosman, Jason Koglin, Matthew Seaberg, Thomas Lane, Demet Kekilli, Steffen Brünle, Tomoyuki Tanaka, Wenting Wu, Christopher Milne, Thomas A. White, Anton Barty, Uwe Weierstall, Valerie Panneels, Eriko Nango, So Iwata, Mark Hunter, Igor Schapiro, Gebhard Schertler, Richard Neutze, Jörg Standfuss

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Ultrafast isomerization of retinal is the primary step in a range of photoresponsive biological functions including vision in humans and ion-transport across bacterial membranes. We studied the sub-picosecond structural dynamics of retinal isomerization in the light-driven proton pump bacteriorhodopsin using an X-ray laser. Twenty snapshots with near-atomic spatial and temporal resolution in the femtosecond regime show how the excited all-trans retinal samples conformational states within the protein binding pocket prior to passing through a highly-twisted geometry and emerging in the 13-cis conformation. The aspartic acid residues and functional water molecules in proximity of the retinal Schiff base respond collectively to formation and decay of the initial excited state and retinal isomerization. These observations reveal how the protein scaffold guides this remarkably efficient photochemical reaction.

Keywords: bacteriorhodopsin, free-electron laser, retinal isomerization mechanism, time-resolved crystallography

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Authors: Markus Nordlund, Arkadiusz K. Kuczaj

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Philip Morris International (PMI) is developing a range of novel tobacco products with the potential to reduce individual risk and population harm in comparison to smoking cigarettes. One of these products is the Tobacco Heating System 2.2 (THS 2.2), (named as the Electrically Heated Tobacco System (EHTS) in this paper), already commercialized in a number of countries (e.g., Japan, Italy, Switzerland, Russia, Portugal and Romania). During use, the patented EHTS heats a specifically designed tobacco product (Electrically Heated Tobacco Product (EHTP)) when inserted into a Holder (heating device). The EHTP contains tobacco material in the form of a porous plug that undergoes a controlled heating process to release chemical compounds into vapors, from which an aerosol is formed during cooling. The aim of this work was to investigate the aerosol formation characteristics for realistic operating conditions of the EHTS as well as for relevant gas mixture compositions measured in the EHTP aerosol consisting mostly of water, glycerol and nicotine, but also other compounds at much lower concentrations. The nucleation process taking place in the EHTP during use when operated in the Holder has therefore been modeled numerically using an extended Classical Nucleation Theory (CNT) for multicomponent gas mixtures. Results from the performed simulations demonstrate that aerosol droplets are formed only in the presence of an aerosol former being mainly glycerol. Minor compounds in the gas mixture were not able to reach a supersaturated state alone and therefore could not generate aerosol droplets from the multicomponent gas mixture at the operating conditions simulated. For the analytically characterized aerosol composition and estimated operating conditions of the EHTS and EHTP, glycerol was shown to be the main aerosol former triggering the nucleation process in the EHTP. This implies that according to the CNT, an aerosol former, such as glycerol needs to be present in the gas mixture for an aerosol to form under the tested operating conditions. To assess if these conclusions are sensitive to the initial amount of the minor compounds and to include and represent the total mass of the aerosol collected during the analytical aerosol characterization, simulations were carried out with initial masses of the minor compounds increased by as much as a factor of 500. Despite this extreme condition, no aerosol droplets were generated when glycerol, nicotine and water were treated as inert species and therefore not actively contributing to the nucleation process. This implies that according to the CNT, an aerosol cannot be generated without the help of an aerosol former, from the multicomponent gas mixtures at the compositions and operating conditions estimated for the EHTP, even if all minor compounds are released or generated in a single puff.

Keywords: aerosol, classical nucleation theory (CNT), electrically heated tobacco product (EHTP), electrically heated tobacco system (EHTS), modeling, multicomponent, nucleation

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Authors: Evgeny Pokushalov, Claire Garcia, Andrey Ponomarenko, John Smith, Michael Johnson, Inessa Pak, Evgenya Shrainer, Dmitry Kudlay, Leila Kasimova, Richard Miller

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This study evaluated the efficacy of an AI-guided dietary supplement regimen compared to a standard physician-guided regimen in managing Type 2 diabetes (T2D). A total of 160 patients were randomly assigned to either the AI-guided group (n=80) or the physician-guided group (n=80) and followed over 90 days. The AI-guided group received 5.3 ± 1.2 supplements per patient, while the physician-guided group received 2.7 ± 0.6 supplements per patient. The AI system personalized supplement types and dosages based on individual genetic and metabolic profiles. The AI-guided group showed a significant reduction in HbA1c levels from 7.5 ± 0.8% to 7.1 ± 0.7%, compared to a reduction from 7.6 ± 0.9% to 7.4 ± 0.8% in the physician-guided group (mean difference: -0.3%, 95% CI: -0.5% to -0.1%; p < 0.01). Secondary outcomes, including fasting plasma glucose, HOMA-IR, and insulin levels, also improved more in the AI-guided group. Subgroup analyses revealed that the AI-guided regimen was particularly effective in patients with specific genetic polymorphisms and elevated metabolic markers. Safety profiles were comparable between both groups, with no serious adverse events reported. In conclusion, the AI-guided dietary supplement regimen significantly improved glycemic control and metabolic health in T2D patients compared to the standard physician-guided approach, demonstrating the potential of personalized AI-driven interventions in diabetes management.

Keywords: Type 2 diabetes, AI-guided supplementation, personalized medicine, glycemic control, metabolic health, genetic polymorphisms, dietary supplements, HbA1c, fasting plasma glucose, HOMA-IR, personalized nutrition

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Authors: Sophie Mills, Constantinos Aristotelous, Leila L. Touil, Richard C. W. James

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Objectives: Historical studies of the anatomy of the spinal accessory nerve (SAN) have reported conflicting results regarding its relationship with the internal jugular vein (IJV). A literature review was undertaken to establish the prevalence of anatomical variations of the SAN encountered during routine neck dissection surgery in order to increase awareness and reduce morbidity associated with iatrogenic SAN injury. Materials and Methods: The largest systematic review to date was performed using PRISMA-ScR guidelines, which yielded nine articles following the application of inclusion and exclusion criteria. A case report is also included, which demonstrates the rare anatomical relationship of the SAN traversing a fenestrated IJV, seen for the first time in the senior author’s career. Results: The mean number of dissections per study was 119, of which 55.6% (n=5) studies were performed on cadaver subjects, and 44.4% (n=4) were surgical dissections. Incidences of the SAN lateral to the IJV and medial to the IJV ranged from 38.9%-95.7% and 2.8%-57.4%, respectively. Over half of the studies reported incidences of the SAN traversing the IJV in 0.9%-2.8% of dissections. One study reported an isolated variant of the SAN dividing around the IJV with a prevalence of 0.5%. Conclusion: At the level of the posterior belly of the digastric muscle, the surgeon can anticipate the identification of the SAN lateral to the IJV in approximately three-quarters of cases, whilst around one-quarter are estimated to be medial. A mean of 1.6% of SANs traverses a fenestration of the vein. It is essential for surgeons to be aware of these anatomical variations and their prevalence to prevent injury to vital structures during surgery.

Keywords: anatomical variant, internal jugular vein, neck dissection, spinal accessory nerve

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Authors: Richard Draper

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A supercomputer can be constructed from identical building blocks which are small parallel processors connected by a network referred to as the local network. The routers have unused ports which are used to interconnect the building blocks. These connections are referred to as the global network. The address space has a global and a local component (g, l). The conventional way to connect the building blocks is to connect (g, l) to (g’,l). If there are K blocks, this requires K global ports in each router. If a block is of size M, the result is a machine with KM routers having diameter two. To increase the size of the machine to 2K blocks, each router connects to only half of the other blocks. The result is a larger machine but also one with greater diameter. This is a crude description of how the network of the CRAY XC® is designed. In this paper, a family of interconnection networks using routers with K global and M local ports is defined. Coordinates are (c,d, p) and the global connections are (c,d,p)↔(c’,p,d) which swaps p and d. The network is denoted D3(K,M) and is called a Swapped Dragonfly. D3(K,M) has KM2 routers and has diameter three, regardless of the size of K. To produce a network of size KM2 conventionally, diameter would be an increasing function of K. The family of Swapped Dragonflies has other desirable properties: 1) D3(K,M) scales linearly in K and quadratically in M. 2) If L < K, D3(K,M) contains many copies of D3(L,M). 3) If L < M, D3(K,M) contains many copies of D3(K,L). 4) D3(K,M) can perform an all-to-all exchange in KM2+KM time which is only slightly more than the time to do a one-to-all. This paper makes several contributions. It is the first time that a swap has been used to define a linearly scalable family of networks. Structural properties of this new family of networks are thoroughly examined. A synchronizing packet header is introduced. It specifies the path to be followed and it makes it possible to define highly parallel communication algorithm on the network. Among these is an all-to-all exchange in time KM2+KM. To demonstrate the effectiveness of the swap properties of the network of the CRAY XC® and D3(K,16) are compared.

Keywords: all-to-all exchange, CRAY XC®, Dragonfly, interconnection network, packet switching, swapped network, topology

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Authors: Austin Jiang, Richard M. Salmon, Nicholas W. Morrell, Wei Li

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BMP10 is highly expressed in the developing heart and plays essential roles in cardiogenesis. BMP10 deletion in mice results in embryonic lethality due to impaired cardiac development. In adults, BMP10 expression is restricted to the right atrium, though ventricular hypertrophy is accompanied by increased BMP10 expression in a rat hypertension model. However, reports of BMP10 activity in the circulation are inconclusive. In particular it is not known whether in vivo secreted BMP10 is active or whether additional factors are required to achieve its bioactivity. It has been shown that high-affinity binding of the BMP10 prodomain to the mature ligand inhibits BMP10 signaling activity in C2C12 cells, and it was proposed that prodomain-bound BMP10 (pBMP10) complex is latent. In this study, we demonstrated that the BMP10 prodomain did not inhibit BMP10 signaling activity in multiple endothelial cells, and that recombinant human pBMP10 complex, expressed in mammalian cells and purified under native conditions, was fully active. In addition, both BMP10 in human plasma and BMP10 secreted from the mouse right atrium were fully active. Finally, we confirmed that active BMP10 secreted from mouse right atrium was in the prodomain-bound form. Our data suggest that circulating BMP10 in adults is fully active and that the reported vascular quiescence function of BMP10 in vivo is due to the direct activity of pBMP10 and does not require an additional activation step. Moreover, being an active ligand, recombinant pBMP10 may have therapeutic potential as an endothelial-selective BMP ligand, in conditions characterized by loss of BMP9/10 signaling.

Keywords: bone morphogenetic protein 10 (BMP10), endothelial cell, signal transduction, transforming growth factor beta (TGF-B)

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Authors: Parvin Berenjkar, Qiuyan Yuan, Richard Sparling, Stan Lozecznik

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Landfills highly contribute to anthropological global warming through CH₄ emissions. Landfills are usually capped by a conventional soil cover to control the migration of gases. Methane is consumed by CH₄-oxidizing microorganisms known as methanotrophs that naturally exist in the landfill soil cover. The growth of methanotrophs can be optimized in a bio-cover that typically consists of a gas distribution layer (GDL) to homogenize landfill gas fluxes and an overlying oxidation layer composed of suitable materials that support methanotrophic populations. Materials such as mature yard waste composts can provide an inexpensive and favourable porous support for the growth and activity of methanotrophs. In areas with seasonal cold climates, it is valuable to know if methanotrophs in a bio-cover can survive in winter until the next spring, and how deep they are active in the bio-cover to mitigate CH₄. In this study, a pilot bio-cover was constructed in a closed landfill cell in Winnipeg that has a very cold climate in Canada. The bio-cover has a surface area of 2.5 m x 3.5 m and 1.5 m of depth, filled with 50 cm of gravel as a GDL and 70 cm of biosolids compost amended with yard and leaf waste compost. The observed in situ potential of methanotrophs for CH₄ oxidation was investigated at a specific period of time from December 2016 to April 2017 as well as November 2017 to April 2018, when the transition to surface frost and thawing happens in the bio-cover. Compost samples taken from different depths of the bio-cover were incubated in the laboratory under standardized conditions; an optimal air: methane atmosphere, at 22ºC, but at in situ moisture content. Results showed that the methanotrophs were alive oxidizing methane without a lag, indicating that there was the potential for methanotrophic activity at some depths of the bio-cover.

Keywords: bio-cover, global warming, landfill, methanotrophic activity

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Authors: Sophie Mills, Leila L. Touil, Richard Sisson

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Introduction: The TNM classification is the global standard for the staging of head and neck cancers. Accurate clinical-radiological staging of tumours (cTNM) is essential to predict prognosis, facilitate surgical planning and determine the need for other therapeutic modalities. This study aims to determine the accuracy of pre-operative cTNM staging using pathological TNM (pTNM) and consider possible causes of TNM stage migration, noting any variation throughout the COVID-19 pandemic. Materials and Methods: A retrospective cohort study examined records of patients with surgical management of head and neck cancer at a tertiary head and neck centre from November 2019 to November 2020. Data was extracted from Somerset Cancer Registry and histopathology reports. cTNM and pTNM were compared before and during the first wave of COVID-19, as well as with other potential prognostic factors such as tumour site and tumour stage. Results: 119 cases were identified, of which 52.1% (n=62) were male, and 47.9% (n=57) were female with a mean age of 67 years. Clinical and pathological staging differed in 54.6% (n=65) of cases. Of the patients with stage migration, 40.4% (n=23) were up-staged and 59.6% (n=34) were down-staged compared with pTNM. There was no significant difference in the accuracy of cTNM staging compared with age, sex, or tumour site. There was a statistically highly significant (p < 0.001) correlation between cTNM accuracy and tumour stage, with the accuracy of cTNM staging decreasing with the advancement of pTNM staging. No statistically significant variation was noted between patients staged prior to and during COVID-19. Conclusions: Discrepancies in staging can impact management and outcomes for patients. This study found that the higher the pTNM, the more likely stage migration will occur. These findings are concordant with the oncology literature, which highlights the need to improve the accuracy of cTNM staging for more advanced tumours.

Keywords: COVID-19, head and neck cancer, stage migration, TNM staging

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Authors: Sally Heyeon Hwang

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Within decision theory, there are normative principles that dictate how one should act in addition to empirical theories of actual behavior. As a normative guide to one’s actual behavior, evidential or causal decision-theoretic equations allow one to identify outcomes with maximal utility values. The choice that each person makes, however, will, of course, differ according to varying assignments of weight and probability values. Regarding these different choices, it remains a subject of considerable philosophical controversy whether individual subjects have the capacity to exercise free will with respect to the assignment of probabilities, or whether instead the assignment is in some way constrained. A version of this question is given a precise form in Richard Jeffrey’s assumption that free will is necessary for Newcomb’s paradox to count as a decision problem. This paper will argue, against Jeffrey, that decision theory does not require the assumption of libertarian freedom. One of the hallmarks of decision-making is its application across a wide variety of contexts; the implications of a background assumption of free will is similarly varied. One constant across the contexts of decision is that there are always at least two levels of choice for a given agent, depending on the degree of prior constraint. Within the context of Newcomb’s problem, when the predictor is attempting to guess the choice the agent will make, he or she is analyzing the determined aspects of the agent such as past characteristics, experiences, and knowledge. On the other hand, as David Lewis’ backtracking argument concerning the relationship between past and present events brings to light, there are similarly varied ways in which the past can actually be dependent on the present. One implication of this argument is that even in deterministic settings, an agent can have more free will than it may seem. This paper will thus argue against the view that a stable background assumption of free will or determinism in decision theory is necessary, arguing instead for a compatibilist decision theory yielding a novel treatment of Newcomb’s problem.

Keywords: decision theory, compatibilism, free will, Newcomb’s problem

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Authors: Manjula Weerasekera, Chris Sissons, Lisa Wong, Sally Anderson, Ann Holmes, Richard Cannon

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The aim of this study was to characterize bacterial population and yeasts in saliva by Polymerase chain reaction followed by denaturing gradient gel electrophoresis (PCR-DGGE) and measure yeast levels by culture. PCR-DGGE was performed to identify oral bacteria and yeasts in 24 saliva samples. DNA was extracted and used to generate DNA amplicons of the V2–V3 hypervariable region of the bacterial 16S rDNA gene using PCR. Further universal primers targeting the large subunit rDNA gene (25S-28S) of fungi were used to amplify yeasts present in human saliva. Resulting PCR products were subjected to denaturing gradient gel electrophoresis using Universal mutation detection system. DGGE bands were extracted and sequenced using Sanger method. A potential relationship was evaluated between groups of bacteria identified by cluster analysis of DGGE fingerprints with the yeast levels and with their diversity. Significant interpersonal variation of salivary microbiome was observed. Cluster and principal component analysis of the bacterial DGGE patterns yielded three significant major clusters, and outliers. Seventeen of the 24 (71%) saliva samples were yeast positive going up to 10³ cfu/mL. Predominately, C. albicans, and six other species of yeast were detected. The presence, amount and species of yeast showed no clear relationship to the bacterial clusters. Microbial community in saliva showed a significant variation between individuals. A lack of association between yeasts and the bacterial fingerprints in saliva suggests the significant ecological person-specific independence in highly complex oral biofilm systems under normal oral conditions.

Keywords: bacteria, denaturing gradient gel electrophoresis, oral biofilm, yeasts

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Authors: Lauren Dawson, Sean Comber, Richard Sandford, Alan Tappin, Bruce Stockley

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The West Dart River is underperforming for Salmon (Salmo salar) survival rates due to acidified pH troughs under the European Water Framework Directive (2000/60/EC). These troughs have been identified as being caused by historic acid rain pollution which is being held in situ by peat bog presence at site and released during flushing events. Natural recovery has been deemed unlikely by the year 2020 using steady state water chemistry models and therefore a program of monitored calcium carbonate (CaCO3) introductions are being conducted to eliminate these troughs, which can drop to pH 2.93 (salmon survival – pH 5.5). The river should be naturally acidic (pH 5.5-6) due to the granite geology of Dartmoor and therefore the CaCO3 introductions are under new methodology (the encasing of the CaCO3 in permeable sacks) to ensure removal should the water pH rise above neutral levels. The water chemistry and ecology are undergoing comprehensive monitoring, including pH and turbidity levels, dissolved organic carbon and aluminum concentration and speciation, while the aquatic biota is being used to assess the potential water chemistry changes. While this project is ongoing, results from the preliminary field trial show only a temporary, localized increase in pH following CaCO3 introductions into the water column. However, changes to the water chemistry have only been identified in the West Dart after methodology adjustments to account for flow rates and spate-dissolution, though no long-term changes have so far been found in the ecology of the river. However, this is not necessarily a negative factor, as the aim of the study is to protect the current ecological communities and the natural pH of the river while remediating only the detrimental pH troughs.

Keywords: anthropogenic acidification recovery, calcium carbonate introductions, ecology monitoring, water chemistry monitoring

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Authors: Elfatih M. Abdel-Rahman, Tobias Landmann, Richard Kyalo, George Ong’amo, Bruno Le Ru

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Maize (Zea mays L.) is a major staple food crop in Africa, particularly in the eastern region of the continent. The maize growing area in Africa spans over 25 million ha and 84% of rural households in Africa cultivate maize mainly as a means to generate food and income. Average maize yields in Sub Saharan Africa are 1.4 t/ha as compared to global average of 2.5–3.9 t/ha due to biotic and abiotic constraints. Amongst the biotic production constraints in Africa, stem borers are the most injurious. In East Africa, yield losses due to stem borers are currently estimated between 12% to 40% of the total production. The objective of the present study was therefore to predict stem borer larvae density in maize fields using RapidEye reflectance data and generalized linear models (GLMs). RapidEye images were captured for a test site in Kenya (Machakos) in January and in February 2015. Stem borer larva numbers were modeled using GLMs assuming Poisson (Po) and negative binomial (NB) distributions with error with log arithmetic link. Root mean square error (RMSE) and ratio prediction to deviation (RPD) statistics were employed to assess the models performance using a leave one-out cross-validation approach. Results showed that NB models outperformed Po ones in all study sites. RMSE and RPD ranged between 0.95 and 2.70, and between 2.39 and 6.81, respectively. Overall, all models performed similar when used the January and the February image data. We conclude that reflectance data from RapidEye data can be used to estimate stem borer larvae density. The developed models could to improve decision making regarding controlling maize stem borers using various integrated pest management (IPM) protocols.

Keywords: maize, stem borers, density, RapidEye, GLM

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Authors: Richard Kajjura, Joyce Kikafunda, Roger Whitehead

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Introduction: Indigenous complementary recipes for children (6-23 months) are bulky and inextricably linked. The potential contribution of indigenous complementary foods to infant’s vitamin A and iron needs is not well investigated in Uganda. Less is known whether children in Uganda are living with or without adequate supply of vitamin A and iron nutrients. In this study, vitamin A and iron contents were assessed in the complementary foods fed to infants aged 6-11 months in a Peri-urban setting in Kampala District in Central Uganda. Objective: Assessment of vitamin A and iron contents of indigenous complementary foods of children as fed and associated demographic factor. Method: In a cross sectional study design, one hundred and three (153) households with children aged 6-11 months were randomly selected to participate in the assessment. Complementary food samples were collected from the children’s mothers/caretakers at the time of feeding the child. The mothers’ socio-demographic characteristics of age, education, marital status, occupation and sex collected a semi-qualitative questionnaire. The Vitamin A and iron contents in the complementary foods were analyzed using a UV/VIS spectrophotometer for vitamin A and Atomic Absorption spectrophotometer for iron samples. The data was analyzed using Gene-stat software program. Results: The mean vitamin A content was 97.0± 72.5 µg while that of iron was 1.5 ± 0.4 mg per 100g of food sample as fed. The contribution of indigenous complementary foods found was 32% for vitamin A and 15% iron of the recommended dietary allowance. Age of children was found to be significantly associated Vitamin A and Iron supply potential. Conclusion: The contribution of indigenous complementary foods to infant’s vitamin A and iron needs was low. Complementary foods in Uganda are more likely to be deficient in vitamin A and iron content. Nutrient dense dietary supplementation should be intervened in to make possible for Ugandan children attain full growth potential.

Keywords: indigenous complementary food, infant, iron, vitamin A

Procedia PDF Downloads 478

Authors: Kevin V. Bui, Richard A. Claytor, Elizabeth M. Priolo, Weihui Li

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Oxygen deprivation masks operate through the use of restricting valves as a means to reduce respiratory flow where flow is inversely proportional to the resistance applied. This produces the same effect as higher altitudes where lower pressure leads to reduced respiratory flow. Both increased resistance with restricting valves and reduce the pressure of higher altitudes make breathing difficultier and force breathing muscles (diaphragm and intercostal muscles) working harder. The process exercises these muscles, improves their strength and results in overall better breathing efficiency. Currently, these oxygen deprivation masks are purely mechanical devices without any electronic sensor to monitor the breathing condition, thus not be able to provide feedback on the breathing effort nor to evaluate the lung function. That is part of the reason that these masks are mainly used for high-level athletes to mimic training in higher altitude conditions, not suitable for patients or customers. The design aims to improve the current method of oxygen deprivation mask to include a larger scope of patients and customers while providing quantitative biometric data that the current design lacks. This will be accomplished by integrating sensors into the mask’s breathing valves along with data acquisition and Bluetooth modules for signal processing and transmission. Early stages of the sensor mask will measure breathing rate as a function of changing the air pressure in the mask, with later iterations providing feedback on flow rate. Data regarding breathing rate will be prudent in determining whether training or therapy is improving breathing function and quantify this improvement.

Keywords: oxygen deprivation mask, lung function, spirometer, Bluetooth

Procedia PDF Downloads 218

Authors: Bajraktarevic Adnan, Djukic Branka, Sporisevic Lutvo, Krdzalic Zecevic Belma, Uzicanin Sajra, Hadzimuratovic Admir, Hadzimuratovic Hadzipasic Emina, Abduzaimovic Alisa, Kustric Amer, Suljevic Ismet, Serafi Ismail, Tahmiscija Indira, Khatib Hakam, Semic Jusufagic Aida, Haas Helmut, Vladicic Aleksandra, Aplenc Richard, Kadic Deovic Aida

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Introduction: Joubert syndrome has an autosomal recessive pattern of inheritance. It is referred as the brain malfunctioning and caused due to the underdevelopment of the cerebellar vermis. Associated conditions involving the eye, the kidney, and ocular disease are well described. Aims: Research helps us better understand this diseases, Joubert syndrome and can lead to advances in diagnosis and treatment. Methods: Different several conditions have been described in which the molar tooth sign and characteristics of Joubert syndrome in ten different places in the world. Carrier testing and diagnosis are available if one of these gene mutations has been identified in an affected family member. Results: Authors have described eleven cases during twenty years of Joubert syndrome. It is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic molar tooth sign, and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. We made confirmation of diagnosis in twin sisters with Joubert syndrome with renal anomalies. Ocular symptoms have existed in seven cases (63.64%) from total eleven. Eleven cases were different sex, five boys (45.45%) and six girls (54.44%). Conclusions: Joubert syndrome is inherited as an autosomal recessive genetic disorder with several features of the disease.

Keywords: Joubert syndrome, cerebellooculorenal syndrome, autosomal recessive genetic disorder (ARGD), children

Procedia PDF Downloads 278