Search results for: Michael Mitchell

Authors: Michael Joseph Passmore

Abstract:

Euthanasia, or assisted suicide (EAS), refers to the provision of medical assistance to individuals seeking to end their own lives. In Canada, the issue of EAS has been the subject of debate and legislative action for many years. In 2016, the Canadian government passed the Medical Assistance in Dying (MAID) Act. This legalized EAS in Canada is subject to certain eligibility criteria. In 2023, debate in Canada continues regarding the scope of MAID practice and associated legislation. Dementia is an illness that causes suffering at the end of life. Persons suffering due to dementia deserve timely and effective palliative care.

Keywords: palliative care, neurocognitive disorder, dementia, Alzheimer’s disease, euthanasia, assisted suicide, medical ethics, bioethics

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Authors: Felicia Iyabode Olasehinde, Michael Maiye Olumorin

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To achieve a liveable and sustainable city, decision makers must engage in holistic approach to the planning and development of infrastructure such as roads. From observation there is great disparity in the development of roads in the northern part of the city while the south is being starved with this infrastructure. This paper attempts to make a comparison between the natures of roads in the north as against the south. The methodology to be adopted is survey research using clusters in the four local government making Kaduna Metropolis. The analysis of the road will be based on existing planning standards for roads in urban areas. This will now provide useful information for critical stakeholders at all levels of governance responsible for achieving liveable and sustainable cities.

Keywords: infrastructure, liveable, sustainable, urbanroads

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Authors: Mathew Wakefield, Matthew Mitchell, Lisa Wise, Christopher McCarthy

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The properties of memory representations in artificial neural networks have cognitive implications. Distributed representations that encode instances as a pattern of activity across layers of nodes afford memory compression and enforce the selection of a single point in instance space. These encoding schemes also appear to distort the representational space, as well as trading off the ability to validate that input information is within the bounds of past experience. In contrast, a localist representation which encodes some meaningful information into individual nodes in a network layer affords less memory compression while retaining the integrity of the representational space. This allows the validity of an input to be determined. The validity (or familiarity) of input along with the capacity of localist representation for multiple instance selections affords a memory sampling approach that dynamically balances the bias-variance trade-off. When the input is familiar, bias may be high by referring only to the most similar instances in memory. When the input is less familiar, variance can be increased by referring to more instances that capture a broader range of features. Using this approach in a localist instance memory network, an experiment demonstrates a relationship between representational conflict, generalization performance, and memorization demand. Relatively small sampling ranges produce the best performance on a classic machine learning dataset of visual objects. Combining memory validity with conflict detection produces a reliable confidence judgement that can separate responses with high and low error rates. Confidence can also be used to signal the need for supervisory input. Using this judgement, the need for supervised learning as well as memory encoding can be substantially reduced with only a trivial detriment to classification performance.

Keywords: artificial neural networks, representation, memory, conflict monitoring, confidence

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Authors: Agarana Michael C., Akinlabi Esther T., Pule Kholopane

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Innovation in manufacturing process technologies and associated product design affects the prospects for manufacturing today and in near future. In this study some theoretical methods, useful as tools in advanced manufacturing, are considered. In particular, some basic Mathematical, Operational Research, Heuristic, and Statistical techniques are discussed. These techniques/methods are very handy in many areas of advanced manufacturing processes, including process planning optimization, modelling and analysis. Generally the production rate requires the application of Mathematical methods. The Emerging Trends Processes in Advanced Manufacturing can be enhanced by using Mathematical Modelling and Optimization techniques.

Keywords: mathematical modelling, optimization, emerging trends, advanced manufacturing

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Authors: Andre Luiz Campelo dos Santos, Amanda Owings, Henry Socrates Lavalle Sullasi, Omer Gokcumen, Michael DeGiorgio, John Lindo

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An increasing body of archaeological and genomic evidence have indicated a complex settlement process of the Americas. Here, four newly sequenced ancient genomes from Northeast Brazil and Uruguay are reported to share strong relationships with previously published samples from Panama and Southeast Brazil. Moreover, an unexpected high genomic affinity with present-day Onge is found in ancient individuals unearthed along the northern portion of South America’s Atlantic coast. These results provide genomic evidence for ancient migrations along South America’s Atlantic coast.

Keywords: archaeogenomics, atlantic coast, paleomigrations, South America

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Authors: Michael Stokes

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Using a disability studies approach, this paper analyzes the American science fiction novel Ballroom of the Skies as way to address and access narratives of American exceptionalism in relation to global struggle. Combined with a critical race studies analysis of identity and cultural practice, this essay seeks to find parallels between the treatment of disability and the treatment of the racialized body in literature to forcibly reread potential for multiple assemblages of identity in the speculated futures of science fiction. Thinking through this relationship, the essay constructs a thematic understanding of social eugenics as practiced in American culture.

Keywords: disability studies, science fiction, eugenics, cultural studies

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Authors: Adar Pelah, Avraham Adelman, Amanda Balash, Jake Mitchell, Mattan J. Pelah, Viswadeep Sarangi, Xin Chen Cai, Zadok Storkey, Gregg B. Fields, Ximena Levy, Ali A. Danesh

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Introduction: Post-Acute Sequelae of Severe Acute Respiratory Syndrome Coronavirus 2 infection (PASC), or Long COVID, while primarily a respiratory disorder, can also include dizziness, lasting weeks to months in individuals who had previously tested positive for COVID-19. This study utilized gait analysis to assess the potential vestibular effects of PASC on the presentation of gait anomalies. Materials and Methods: The study included 11 participants who tested positive for COVID-19, a mean of 2.8 months prior to gait testing (PP=11), and 8 control participants who did not test positive for COVID-19 (NP=8). Participants walked 7.5m at three self-selected speeds: ‘slow,’ ‘normal,’ and ‘fast.’ Mean walking speeds were determined for each speed and overall range from four laps on an instrumented walkway using video capture. Results: A Z-test at 0.05 significance was used for speed range, ‘normal’ and ‘fast’ at the lower tail, and for ‘slow’ at the higher tail. Average speeds (m/s) were: ‘slow’ (PP=0.709, NP=0.678), ‘normal’ (PP=1.141, NP=1.170), ‘fast’ (PP=1.529, NP=1.821), average range (PP=0.846, NP=1.143). Significant speed decreases between PP and NP were observed in ‘fast’ (-17.43%) and average range (-29.86%), while changes in ‘slow’ (+2.44%) and ‘normal’ (-4.39%) speeds were not significant. Conclusions: Long COVID is a recognized disability (Americans with Disabilities Act), and although it presents variably, dizziness, vertigo, and tinnitus are not uncommon in COVID-19 infection. These results suggest that potential inner-ear damage may persist and manifest in gait changes even after recovery from acute illness. Further research with a larger sample size may indicate the need for providers to consider PASC when diagnosing patients with vestibular dysfunction.

Keywords: gait analysis, long-COVID, vestibular dysfunction, walking speed

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Authors: Konstantinos Sofianos, Michael Stefanidakis

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Nowadays, advances in information and communication technologies offer a range of opportunities for new approaches, methods, and tools in the field of education and training. Teacher-centered learning has changed to student-centered learning. E-learning has now matured and enables the design and construction of intelligent learning systems. A smart learning system fully adapts to a student's needs and provides them with an education based on their preferences, learning styles, and learning backgrounds. It is a wise friend and available at any time, in any place, and with any digital device. In this paper, we propose an intelligent learning system, which includes an ontology with all elements of the learning process (learning objects, learning activities) and a massive open online course (MOOC) system. This intelligent learning system can be used in music education.

Keywords: intelligent learning systems, e-learning, music education, ontology, semantic web

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Authors: Steffen Schieweck, Johannes Dregger, Sascha Kaczmarek, Michael ten Hompel

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Logistics distributors face the issue of having to provide increasing service levels while being forced to reduce costs at the same time. Same-day delivery, quick order processing and rapidly growing ranges of articles are only some of the prevailing challenges. One key aspect of the performance of an intra-logistics system is how often and in which amplitude congestions and dysfunctions affect the processing operations. By gaining knowledge of the so called ‘performance availability’ of such a system during the planning stage, oversizing and wasting can be reduced whereas planning transparency is increased. State of the art for the determination of this KPI are simulation studies. However, their structure and therefore their results may vary unforeseeably. This article proposes a concept for the establishment of ‘certified’ and hence reliable and comparable simulation models.

Keywords: intra-logistics, performance availability, simulation, warehousing

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Authors: Jesse Silas Mshelia, Michael Mamman Degri, Akeweta Emmanuel Samaila

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This review was conducted in the North-Eastern part of Nigeria where there are a lot of challenges of poverty and low level of productivity of farmlands as a result of dwindling soil fertility and dependence on crops that are not so much adopted to the soil and climatic condition and the prevailing farming systems of the area which is predominantly mixed cropping. The crops that are neglected are well fitted into this system of production and yield better with the low level of input and management and give a higher profit margin. These crops, the farmers have mastered the production techniques, but do not have the scientific knowledge to improve the quality of the seed and the products hence need the intervention of modern technologies to benefit maximally from the full potentials of these crops.

Keywords: farming systems, neglected crops, potentials, underutilised

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Authors: Ben G. Weber, Michael Mateas

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We present a case-based reasoning technique for selecting build orders in a real-time strategy game. The case retrieval process generalizes features of the game state and selects cases using domain-specific recall methods, which perform exact matching on a subset of the case features. We demonstrate the performance of the technique by implementing it as a component of the integrated agent framework of McCoy and Mateas. Our results demonstrate that the technique outperforms nearest-neighbor retrieval when imperfect information is enforced in a real-time strategy game.

Keywords: case based reasoning, real time strategy systems, requirements elicitation, requirement analyst, artificial intelligence

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Authors: Michael Naderer, Manuel Hartong, Raad Al-Kinani

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The use of hollow conductors is known in electric generators of large MW scale. The application of motors of small scale between 50 and 200kW is new. The latest results in the practical application and set up of machines show that the power density can be raised significantly and the common problem of derating of the motors is prevented. Furthermore, new design dimensions can be realised as continuous current densities up to 75A/mm² are achievable. This paper shows the results of the application of hollow conductors for a motor design used for automotive traction machines comparing common coolings with hollow conductor cooling.

Keywords: degree of efficiency, electric motor design, hollow conductors, power density

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Authors: Michael Subbey, Kwame Takyi Danquah

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Finding a child's exceptional skills and abilities at a young age and nurturing them is a challenging process. The Social Learning Theory (SLT) of Albert Bandura is used to analyze the effects of early talent identification on children's growth and development. The study examines both the advantages and disadvantages of early talent identification and stresses the significance of a moral strategy that puts the welfare of the child first. The paper emphasizes the value of a balanced approach to early talent identification that takes into account individual differences, cultural considerations, and the child's social environment.

Keywords: early talent development, social learning theory, child development, child welfare

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Authors: Michael Zimba

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A novel set of features for copy-move image forgery, CMIF, detection method is proposed. The proposed set presents a new approach which relies on electrostatic field theory, EFT. Solely for the purpose of reducing the dimension of a suspicious image, firstly performs discrete wavelet transform, DWT, of the suspicious image and extracts only the approximation subband. The extracted subband is then bijectively mapped onto a virtual electrostatic field where concepts of EFT are utilised to extract robust features. The extracted features are shown to be invariant to additive noise, JPEG compression, and affine transformation. The proposed features can also be used in general object matching.

Keywords: virtual electrostatic field, features, affine transformation, copy-move image forgery

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Authors: Michael Tupý, Dagmar Měřínská, Alice Tesaříková-Svobodová, Christian Carrot, Caroline Pillon, Vít Petránek

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The mechanical properties of blends consisting of plasticized poly(vinyl butyral) (PVB) and plasticized poly(vinyl chloride) (PVC) are studied, in order to evaluate the possibility of using recycled PVB waste derived from windshields. PVC was plasticized with 38% of diisononyl phthalate (DINP), while PVB was plasticized with 28% of triethylene glycol, bis(2-ethylhexanoate) (3GO). The optimal process conditions for the PVB/PVC blend in 1:1 ratio were determined. Entropy was used in order to theoretically predict the blends miscibility. The PVB content of each blend composition used was ranging from zero to 100%. Tensile strength and strain were tested. In addition, a comparison between recycled and original PVB, used as constituents of the blend, was performed.

Keywords: poly(vinyl butyral), poly(vinyl chloride), windshield, polymer waste, mechanical properties

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Authors: Mitchell De Sousa

Abstract:

The city of Buenos Aires and its agglomeration concentrates more than the thirty percent of the Argentine population. Historically, the political governments (essentially during the neoliberal ones) focused all the equipment, investment, progress on the north of the city since it is the place where all the financial, core services, and the main country harbor is. The south part of the town and all the cities around the south portion of it is has been, historically, where are concentrated the more vital unfulfilled needs of this population. The river that cross over the urban agglomeration of Buenos Aires, the Matanza-Riachuelo, has been historically a place of urban segregation since it is located south of the main town. From the post-colonial times, the river has been officially a place that separates the jurisdiction of the city of Buenos Aires with some of the towns that were built around the urban agglomeration. Since its place has never been treated as a whole and has always been treated as a boundary, there is always been a focus for factories to dispose its waste and an attractive place for a large portion of the underclasses to settled down there, occupying illegally the previous terrains that were once from the railway, now abandoned. Regarding those issues and adding a one more problematic one, those who lives beyond the boundary has few access to enter the main capital city. A few bridges connect some portions of it over the Matanza Riachuelo River, which there is also a limited accessibility to the main city from the south. Because of such, the main entrances to the town are always collapsed by all the services that the urban agglomeration offer (from buses to trains and individual cars). Beyond all the enlisted problems, the contamination of the river makes it one of the most contaminated rivers on the entire world. Those who lives in the settlements are in there for themselves, so the fight from them to their right of the city and their claims to the state for intervention in the urban coast is one of the most promising discussions surrounding this place of this urban agglomeration. The study focuses on the perception of those who lives in this boundary through interviews and collective experiences and is a part of a more developed project in the University of Buenos Aires study called ‘Urban landscape and a sustainable study through the interdisciplinary. Urban strategies on city borders’.

Keywords: Buenos Aires, landscape, mobility, popular sectors, urban segregation

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Authors: Michael Mickson

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The recent development of unmanned aerial vehicles (UAVs) has been increasing the number of technical solutions that can be used to identify, map, and manage the effects of geohazards. UAVs are generally cheaper and more versatile than traditional remote-sensing techniques, and they can be therefore considered as a good alternative for the acquisition of imagery and other remote sensing data before, during and after a natural hazard event. This study aims to use UAV for investigating areas susceptible to high mobility flows such as debris flow in Dominica, especially after the 2017 Hurricane Maria. The use of UAVs in identifying, mapping and managing of natural hazards helps to mitigate the negative effects of natural hazards on livelihood, properties and the built environment.

Keywords: unmanned aerial vehicle (UAV), geohazards, remote sensing, mapping, Dominica

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Authors: Lauren C. Porter, Andrew Curtis, Eric Jefferis, Susanne Mitchell

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A wealth of research has been generated examining the variation in crime across neighborhoods. However, there is also a striking degree of crime concentration within neighborhoods. A number of studies show that a small percentage of street segments, intersections, or addresses account for a large portion of crime. Not surprisingly, a focus on these crime hot spots can be an effective strategy for reducing community level crime and related ills, such as health problems. However, research is also limited in an important respect. Studies tend to use official data to identify hot spots, such as 911 calls or calls for service. While the use of call data may be more representative of the actual level and distribution of crime than some other official measures (e.g. arrest data), call data still suffer from the 'dark figure of crime.' That is, there is most certainly a degree of error between crimes that occur versus crimes that are reported to the police. In this study, we present an alternative method of identifying crime hot spots, that does not rely on official data. In doing so, we highlight the potential utility of neighborhood-insiders to identify and understand crime dynamics within geographic spaces. Specifically, we use spatial video and geo-narratives to record the crime insights of 36 police, ex-offenders, and residents of a high crime neighborhood in northeast Ohio. Spatial mentions of crime are mapped to identify participant-identified hot spots, and these are juxtaposed with calls for service (CFS) data. While there are bound to be differences between these two sources of data, we find that one location, in particular, a corner store, emerges as a hot spot for all three groups of participants. Yet it does not emerge when we examine CFS data. A closer examination of the space around this corner store and a qualitative analysis of narrative data reveal important clues as to why this store may indeed be a hot spot, but not generate disproportionate calls to the police. In short, our results suggest that researchers who rely solely on official data to study crime hot spots may risk missing some of the most dangerous places.

Keywords: crime, narrative, video, neighborhood

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Authors: V. Pentland, S. Spilsbury, A. Biswas, M. F. Mottola, S. Paplinskie, M. S. Mitchell

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Postpartum depression (PPD) is a form of major depressive disorder that afflicts 10–22% of mothers worldwide. Rising demands for traditional PPD treatment options (e.g., psychiatry), especially in the context of the COVID-19 pandemic, are increasingly difficult to meet. More accessible treatment options (e.g., walking) are needed. The objective of this review is to determine the impact of walking on PPD severity. A structured search of seven electronic databases for randomised controlled trials published between 2000 and July 29, 2021, was completed. Studies were included if walking was the sole or primary aerobic exercise modality. A random-effects meta-analysis was conducted for studies reporting PPD symptoms measured using a clinically validated tool. A simple count of positive/null effect studies was undertaken as part of a narrative summary. Five studies involving 242 participants were included (mean age=~28.9 years; 100% with mild-to-moderate depression). Interventions were 12 (n=4) and 24 (n=1) weeks long. Each assessed PPD severity using the Edinburgh Postnatal Depression Scale (EPDS) and was included in the meta-analysis. The pooled effect estimate suggests that relative to controls, walking yielded clinically significant decreases in mean EPDS scores from baseline to intervention end (pooled MD=-4.01; 95% CI:-7.18 to -0.84, I2=86%). The narrative summary provides preliminary evidence that walking-only, supervised, and group-based interventions, including 90-120+ minutes/week of moderate-intensity walking, may produce greater EPDS reductions. While limited by a relatively small number of included studies, pooled effect estimates suggest walking may help mothers manage PPD. This is the first time walking as a treatment for PPD, an exercise modality that uniquely addresses many barriers faced by mothers has been summarized in a systematic way. Trial registration: PROSPERO (CRD42020197521) on August 16th, 2020

Keywords: postpartum, exercise, depression, walking

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Authors: Alese Boniface K., Adu Michael K., Owa Victor K.

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Security can be defined as the degree of resistance to, or protection from harm. It applies to any vulnerable and valuable assets, such as persons, dwellings, communities, nations or organizations. Cybercrime is any crime committed or facilitated via the Internet. It is any criminal activity involving computers and networks. It can range from fraud to unsolicited emails (spam). It includes the distant theft of government or corporate secrets through criminal trespass into remote systems around the globe. Nigeria like any other nations of the world is currently having their own share of the menace that has been used even as tools by terrorists. This paper is an attempt at presenting cyber security as an issue that requires a coordinated national response. It also acknowledges and advocates the key roles to be played by stakeholders and the importance of forging strong partnerships to prevent and tackle cybercrime in Nigeria.

Keywords: security, cybercrime, internet, government, stakeholders, partnerships

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Authors: Michael A. Genovese

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The struggle for LGBTQ rights in the United States began in Greenwich Village, New York, in 1967, when police tried to break up a gathering of mostly gay men who were partying at the Stonewall Bar in NYC. As unlikely as it may sound, this “riot” proved to be consequential in raising the political consciousness of gay men in America. From that point on, gays engaged in a political battle to achieve the rights to which they were entitled. This essay examines changes in popular opinion regarding LGBTQ rights from the late 1960s through the Trump administration, and examines the role public pressure played on presidential politics. For most of this period, presidents “followed” public opinion. This was true even during the administration of Barack Obama when gay Americans finally achieved some clearly spelled out rights (e.g. same-sex marriage). The findings of this paper call into question certain assumptions about presidential leadership, and underline the power of public opinion in shaping policy.

Keywords: presidential leadership, gay rights, LGBTQ, popular opinion

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Authors: Michael I. Okereke, Ambrose I. Akpoyomare

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This paper presents a numerical study of the impact mechanic of metallic and sandwich structures incorporate with blast resistance enhancements. The study focuses on structures that have been exposed to improvised explosives devices (IEDs) attacks. The results show numerical conclusions on mechanisms to ensure blast resistance enhancement for the applications studied in this work. The work has identified optimal panel configuration both in geometry and configurations to ensure optimal blast resistance response to such IEDs discharges. Findings from this work will drive improvements in especially military and civilian vehicles in countries where blast attacks on vehicular occupants are quite rampant like Pakistan and Afghanistan.

Keywords: blast resistance, blast enhancement, explosives, material behavior

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Authors: Michael Barker

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Men’s rights activists are largely antifeminism. Evaluation of men’s rights discourses, however, shows that men’s rights’ goals would be better achieved by working with feminism. Discussion of men’s rights discourses, though, is prone to confusion because there is no commonly used men’s rights language. In the presentation ‘male sexism’, ‘matriarchy’ and ‘masculism’ will be unpacked as part of a suggested men’s rights language. Once equipped with a men’s rights vocabulary, sustained philosophical assessment of the extent to which several categories of male disadvantages are wrongful will be offered. Following this, conditions that cause each category of male sexism will be discussed. It shall be argued that male sexism is caused more so by matriarchy than by patriarchy or by feminism. In closing, the success at which various methods address the categories of male sexism will be contrasted. Ultimately, it will be shown that male disadvantages are addressed more successfully by methods that work with, than against, feminism.

Keywords: gender studies, feminism, patriarchy, men’s rights, male sexism, matriarchy, masculism

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Authors: Deepa, Yashbir Singh, Shi Yi Wu, Michael Friebe, Joao Manuel R. S. Tavares, Hu Wei-Chih

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Cardiovascular disease can be detected by measuring the regional and global wall motion of the left ventricle (LV) of the heart; In this study, we designed a dynamic simulation tool using Computed Tomography (CT) images to assess the difference between actual and simulated left ventricular functions. Thirteen healthy subjects were involved in the study with actual and simulated left ventricular functions. In this research, we found the high correlation between actual left ventricular wall motion and simulated left ventricular wall motion. Our results confirm that our simulation tool is feasible for simulating left ventricular motion.

Keywords: cardiac imaging, left-ventricular remodeling, cardiac wall motion, myocardial functions

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Authors: Michael J. Hahn

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Docker is a powerful tool used by many companies such as PayPal, MetLife, Expedia, Visa, and many others. Docker works by bundling multiple applications, binaries, and libraries together on top of an operating system image called a container. The container runs on a Docker engine that in turn runs on top of a standard operating system. This centralization saves a lot of system resources. In this paper, we will be demonstrating how to bypass Transport Layer Security and execute remote code within Docker containers built on a base image of Alpine Linux version 3.7.0 through the use of .apk files due to flaws in the Alpine Linux package management program. This exploit renders any applications built using Docker with a base image of Alpine Linux vulnerable to unwanted outside forces.

Keywords: cloud, cryptography, Docker, Linux, security

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Authors: Mona Loraine M. Barabad, Duckshin Park, Michael E. Versoza

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This study gives a comparison of the commuters’ exposure to particulate matter while taking different transportation mode (jeepney, motorcycle and taxi) in Cebu City, Philippines. A personal aerosol monitor (Sidepak AM510) was used for data collection; in addition, both temperature and humidity were also documented. Analysis was done and showed that Jeepney, which is the most commonly used mode in the country, has the highest PM collected having an average of 358.0μg/m^3, followed by the motorcycle with an average of 244.6 μg/m^3. The taxi recorded to have an average of 50.0 μg/m^3 and the lowest between the microenvironments sampled. The outcome was greatly significant to the traffic volume together with several factors that could possibly affect the result. However, due to the lack of time and resources, the data collected was limited. Further and thorough investigation should be implemented to provide more essential information regarding the subject.

Keywords: air quality, particulate matter, Philippines, transportation

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Authors: Michael Gidey Gebru

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Most DEA models operate in a static environment with input and output parameters that are chosen by deterministic data. However, due to ambiguity brought on shifting market conditions, input and output data are not always precisely gathered in real-world scenarios. Fuzzy numbers can be used to address this kind of ambiguity in input and output data. Therefore, this work aims to expand crisp DEA into DEA with fuzzy environment. In this study, the input and output data are regarded as fuzzy triangular numbers. Then, the DEA model with fuzzy environment is solved using a multi-objective method to gauge the Decision Making Units’ efficiency. Finally, the developed DEA model is illustrated with an application on real data 50 educational institutions.

Keywords: efficiency, DEA, fuzzy, decision making units, higher education institutions

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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

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Authors: Mohamed Tamer, Wink Michael

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DNA intercalating agents increase the stability of DNA which can be demonstrated by measuring the melting temperature Tm. Tm can be determined in a spectrophotometer in which the cell temperature is increased gradually. The resulting absorption data comes as a sigmoidal curve from which melting temperature can be determined when half of the DNA has denatured. The current study aims to assess DNA intercalating activities of four pure bioactive isoquinoline alkaloids: sanguinarine, berberine, allocryptopine, and chelerythrine which were isolated from Chelidonium majus (Papaveraceae) by repeated silica gel column chromatography, recrystallization and preparative TLC. The isolated compounds were identified by comparing their physical properties and mass spectra with those of the published data. The results showed that sanguiarine is the most active intercalating agent with Tm value of 83.55 ± 0.49 followed by berberine, chelerythrine, and allocryptopine with Tm values 62.58 ± 0.47, 51.38 ± 0.37 and 50.94 ± 0.65, respectively, relative to 49.78 ± 1.05 of bacteriophage DNA alone and 86.09 ± 0.5 for ethidium bromide as a positive control.

Keywords: alkaloids, Chelidonium majus, DNA intercalation, Tm

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Authors: Michael Zaidman, Naum Simanovsky

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The most of brachial birth palsies are transient. Children with incomplete recovery almost always develop an internal rotation and adduction contracture. The muscle imbalance around the shoulder results in glenohumeral joint deformity and functional limitations. Natural history of glenohumeral deformity is it’s progression with worsening of function. Anteversion glenoid osteotomy with latissimus dorsi and teres major tendon transfers could be an alternative procedure of proximal humeral external rotation osteotomy for patients with severe glenohumeral dysplasia secondary to brachial plexus birth palsy. We will discuss pre-operative planning and stepped operative technique of the procedure on clinical example.

Keywords: obstetric brachial plexus palsy, glenoid anteversion osteotomy, tendon transfer, operative technique

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