Search results for: nef variants

Authors: Purva Mishra, Rajesh Potlia, Kuljeet Singh Sandhu

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The role of glycyl residues in the protein structure has lingered within the research community for the last several decades. Glycyl residue is the only amino acid that is achiral due to the lack of a side chain and can, therefore, exhibit Ramachandran conformations that are disallowed for L-amino acids. The structural and functional significance of glycyl residues with L-disallowed conformation, however, remains obscure. Through statistical analysis of various datasets, we found that the glycyls with L-disallowed conformations are over-represented at disease-associated sites and tend to be evolutionarily conserved. The mutations of L-disallowed glycyls tend to destabilize the native conformation, reduce protein solubility, and promote inter-molecular aggregations. We uncovered a structural motif referred to as “β-crescent” formed around the L-disallowed glycyl, which prevents β-sheet aggregation by disrupting the alternating pattern of β-pleats. The L-disallowed conformation of glycyls also holds predictive power to infer the pathogenic missense variants. Altogether, our observations highlight that the L-disallowed conformation of glycyls is selected to facilitate native folding and prevent inter-molecular aggregations. The findings may also have implications for designing more stable proteins and prioritizing the genetic lesions implicated in diseases.

Keywords: Ramachandran plot, β-sheet, protein stability, protein aggregation

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Authors: Xinyuan Chen, Mohd Nizam Husen, Zhongmei Zhou, Gongde Guo, Wei Gao

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Temporal Knowledge Graph Completion (TKGC) has attracted increasing attention for its enormous value; however, existing models lack capabilities to capture both local interactions and global dependencies simultaneously with evolutionary dynamics, while the latest achievements in convolutions and Transformers haven't been employed in this area. What’s more, periodic patterns in TKGs haven’t been fully explored either. To this end, a multi-stage hybrid architecture with convolution-backed Transformers is introduced in TKGC tasks for the first time combining the Hawkes process to model evolving event sequences in a continuous-time domain. In addition, the seasonal-trend decomposition is adopted to identify periodic patterns. Experiments on six public datasets are conducted to verify model effectiveness against state-of-the-art (SOTA) methods. An extensive ablation study is carried out accordingly to evaluate architecture variants as well as the contributions of independent components in addition, paving the way for further potential exploitation. Besides complexity analysis, input sensitivity and safety challenges are also thoroughly discussed for comprehensiveness with novel methods.

Keywords: temporal knowledge graph completion, convolution, transformer, Hawkes process, periodicity

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Authors: Laila Seada, Hanan Oreiby, Fawaz Al Rashid, Ashraf Negm

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Background and Objective: In most areas of the world, the incidence of thyroid cancer has been increasing over the last decade, mostly due to a combination of early detection of the neoplasm resulting from sensitive procedures and increased population exposure to radiation and unrecognized carcinogens. Methods: Cases of thyroid cancer have been retrieved from the cancer registry at King Khalid Hospital during the period from August 2012 to April 2016. Age, gender and histopathologic types have been recorded. Results: Thyroid carcinoma ranked as the second most common malignancy in females (25%) after breast cancer (31%). It constituted 20.8% of all newly diagnosed cancer cases. As for males, it ranked the 4^th type of malignancy after gastrointestinal cancer, lymphomas and soft tissue sarcomas. Mean age for females and males was 38.7 +/- 13.2 and 60.25 +/- 11.5 years, respectively, and the difference between the two groups was statistically significant (p value = 0.0001). Fifty-five (82%) were papillary carcinomas including 10 follicular variant of papillary (FVPC), and eight papillary micro carcinomas (PMC) and two tall cell/oncocytic variants. Follicular carcinomas constituted two (3.1%), while two (3.1%) were anaplastic, and two (3.1%) were medullary. Conclusion: Thyroid cancer incidence in Hail is ranking as the 2^nd most common female malignancy similar to other regions in the Kingdom. However, this high incidence contrasts with much lower rates worldwide.

Keywords: thyroid, hail, papillary, microcarcinoma

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Authors: Fern Baedyananda, Arkom Chaiwongkot, Somchai Niruthisard, Nakarin Kitkumthorn, Parvapan Bhattarakosol

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High-risk human papillomavirus (HPV) infections cause transformation of the host cells by down-regulating and inhibiting host regulatory proteins such as p53 and pRb by overexpressing the viral oncoproteins E6 and E7. However, the E1 protein which is the only enzyme encoded by HPV has also been shown to cause DNA instability leading to the integration of the virus into the host genome and triggering carcinogenic events. A 63bp duplication in the E1 helicase region has been detected in European patients. However, the clinical prognosis of these patients is still controversial. This study was performed to determine the presence of the HPV-16 E1 63bp duplication in patient cervical samples in Thai women and determine the sequence of the variant in the Thai population. Detection of the HPV-16 E1 duplication in the helicase region was performed in 90 patient cell samples across normal, cervical intraepithelial neoplasia I-III, and squamous cervical carcinoma stages by PCR. The PCR products were purified and sequenced to determine the presence of duplication variants.The variant form was found in 10% of all CIN 1 patients. In this study, the presence of the 63 bp duplication variant in the Thai population was found to be present and was further characterized. Interestingly, all samples that exhibited the variant form of HPV-16 E1 were classified as CIN I. Presence of the variant, constricted to mild dysplasia signifies the importance of HPV-16 E1 in carcinogenesis.

Keywords: carcinogenesis, cervical cancer, human papillomavirus, HPV-16 E1

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Authors: Tomas Barnak, Libor Matejka

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The aim of this study is to create a standard application using multi-criteria evaluation in the field of forensic engineering. This situation can occur in the professional assessment in several cases such as when it is necessary to consider more criteria variant of the structural subsystems, more variants according to several criteria based on a court claim, which requires expert advice. A problematic situation arises when it is necessary to clearly determine the ranking of the options according to established criteria, and reduce subjective evaluation. For the procurement in the field of construction which is based on the prepared text of the law not only economic criteria but also technical, technological and environmental criteria will be determined. This fact substantially changes the style of evaluation of individual bids. For the above-mentioned needs of procurement, the unification of expert’s decisions and the use of multi-criteria assessment seem to be a reasonable option. In the case of experimental verification when using multi-criteria evaluation of alternatives construction subsystem the economic, technical, technological and environmental criteria will be compared. The core of the solution is to compare a selected number of set criteria, application methods and evaluation weighting based on the weighted values assigned to each of the criteria to use multi-criteria evaluation methods. The sequence of individual variations is determined by the evaluation of the importance of the values of corresponding criteria concerning expertise in the problematic of outside wall constructional subsystems.

Keywords: criteria, expertise, multi-criteria evaluation, outside wall subsystems

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Authors: Karthik Mittal

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This study performs an unsupervised machine learning analysis to find clusters of related SNPs which highlight biological pathways that are important for the biological mechanisms of breast cancer. Studying genetic variations in isolation is illogical because these genetic variations are known to modulate protein production and function; the downstream effects of these modifications on biological outcomes are highly interconnected. After extracting the SNPs and their effect on different types of breast cancer using the MRBase library, two unsupervised machine learning clustering algorithms were implemented on the genetic variants: a k-means clustering algorithm and a hierarchical clustering algorithm; furthermore, principal component analysis was executed to visually represent the data. These algorithms specifically used the SNP’s beta value on the three different types of breast cancer tested in this project (estrogen-receptor positive breast cancer, estrogen-receptor negative breast cancer, and breast cancer in general) to perform this clustering. Two significant genetic pathways validated the clustering produced by this project: the MAPK signaling pathway and the connection between the BRCA2 gene and the ESR1 gene. This study provides the first proof of concept showing the importance of unsupervised machine learning in interpreting GWAS summary statistics.

Keywords: breast cancer, computational biology, unsupervised machine learning, k-means, PCA

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Authors: Natarajan Vijayarangan, Viswanath Kumar Ganesan, G. Kumudhavalli

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This abstract figures out an uncertainty problem pertaining to evaluating business proposals or concept notes in an organisation. Let us consider business proposal evaluation process (BPEP) for execution of corporate research cum business projects in the organisation. Assume that two concept notes X and Y of BPEP are approved: one of them is a full-fledged type (100% financial approval given by the organisation) - X and other one is a conditional type (a partial financial approval given by the organisation) - Y. Then a penalty criteria has been introduced during the process. At the end of annual appraisal, if both of them complete as per the goals and objectives committed or figured out at the time of concept note submission, then both will get an incentive of $N from the organisation. If one of them doesn't fulfill the goals and objectives at the year-end appraisal, then d% reduction or cut will be levied on the project budget for the next year. If X fulfills the goals and objectives and Y doesn't , then X gets a gain of d% on Y's previous year budget and Y gets a loss of d% from the previous year budget for the next year. And vice-versa. Further, an incentive of $N will be given to those who gains. This process is a part of Necktie paradox and inherits an uncertainty principle on X or Y getting more than $N even if X or Y performs well.Solving the above problem and generalizing on finitely many concept notes will be a challenging task.

Keywords: concept notes, necktie paradox, annual appraisal, project budget and gain or loss

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Authors: A. Ameur Ameur, F. Chougrani, M. Halbouche

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In order to characterize the sheep's milk, we analyzed and compared, in a first stage of our work, the physical and chemical characteristics in two Algerian sheep breeds: Hamra race and race Ouled Djellal breeding at the station the experimental ITELV Ain Hadjar (Saïda Province). Analyses are performed by Ekomilk Ultra-analyzer (EON TRADING LLC, USA), they focused on the pH, density, freezing, fat, total protein, solids-the total dry extract. The results obtained for these parameters showed no significant differences between the two breeds studied. The second stage of this work was the isolation and characterization of milk proteins. For this, we used the precipitation of caseins phi [pH 4.6]. For this, we used the precipitation of caseins Phi (pH 4.6). After extraction, purification and assay, both casein and serum protein fractions were then assayed by the Bradford method and controlled by polyacrylamide gel electrophoresis (PAGE) in the different conditions (native, in the presence of urea and in the presence of SDS). The electrophoretic pattern of milk samples showed the presence similarities of four major caseins variants (αs1-, αs2-β-and k-casein) and two whey proteins (β-lactoglobulin, α-lactalbumin) of two races Hamra and Ouled Djellal. But compared to bovine milk, they have helped to highlight some peculiarities as related to serum proteins (α La β Lg) as caseins, including αs1-Cn.

Keywords: Hamra, Ouled Djellal, protein polymorphism, sheep breeds

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Authors: Madhushi Bandara, Dharshana Kasthurirathna, Danaja Maldeniya, Mahendra Piraveenan

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Community detection is an extremely useful technique in understanding the structure and function of a social network. Louvain algorithm, which is based on Newman-Girman modularity optimization technique, is extensively used as a computationally efficient method extract the communities in social networks. It has been suggested that the nodes that are in close geographical proximity have a higher tendency of forming communities. Variants of the Newman-Girman modularity measure such as dist-modularity try to normalize the effect of geographical proximity to extract geographically dispersed communities, at the expense of losing the information about the geographically proximate communities. In this work, we propose a method to extract geographically dispersed communities while preserving the information about the geographically proximate communities, by analyzing the ‘community network’, where the centroids of communities would be considered as network nodes. We suggest that the inter-community link strengths, which are normalized over the community sizes, may be used to identify and extract the ‘overlay communities’. The overlay communities would have relatively higher link strengths, despite being relatively apart in their spatial distribution. We apply this method to the Gowalla online social network, which contains the geographical signatures of its users, and identify the overlay communities within it.

Keywords: social networks, community detection, modularity optimization, geographically dispersed communities

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Authors: Marina Galakhova

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Nowadays, language variants, as well as minority languages and cultures, are of increased interest, and the desire to protect them is rising. The Maori language is defined as a vulnerable language by UNESCO. Its usage is confined to intra-family communication. It is not being utilized by the younger generation or being taught at an early age; therefore, it is being replaced by more frequently used languages. Maori loanwords are a unique part of New Zealand English. That is why it is worth our attention. The aim of this study is to investigate Maori cultural loanwords in the New Zealand media. Methods of analysis of lexical units, etymological interpretation, and linguocultural commenting were used. The results of the research show that Maori borrowings are used in the media, not only with regard to Maori people but also to the whole nation. The Maori language is often used in media texts, most often without a translation in English. Not only are words borrowed, but also cultural concepts. The language usage is limited to the following spheres: everyday life, education, religion, and media. The conclusion can also be drawn that Maori words are used to emphasize a new bicultural national identity; the revival of the Maori language and culture contributed to a large number of borrowings into New Zealand English. It has been established that the Maori language is substratum because Maori provides an intrusive language, which is English with language material. It is stated that the number of borrowings denoting Maori culture is very significant. This group is even greater than the group relating to flora and fauna. Language policy in New Zealand is designed to protect and promote the Maori language and culture. Tables of Maori loanwords are also presented.

Keywords: loanwords, Maori, minority languages, New Zealand

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Authors: Valarmathi Subramaniam

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Ever since the first Indian feature film was produced and released by Shri Dada Saheb Phalke in the year 1931, the Indian Film Industry has grown leaps and bounds. The Indian Film Industry stands as the largest film industry in the world, and it produces more than a thousand films every year with investments and revenues worth several billion rupees. As per the official report published by UNESCO in the year 2017 on their website, it states that in the year 2015, India has produced one thousand nine hundred and seven feature films using digital technology. Not only is the cinema adapted to digital technologies, but the digital technologies also opened up avenues for talents to enter the cinema industry. This paper explores such talents who have emerged in the film industry without any background, neither academic nor from their family background, but holding digital media as their weapon. The research involves two variants of filmmaking technology – Celluloid and Digital. The study used a selective sampling of films that were released from the year 2020-to 2022. The sample has been organized, resulting in popular and fresh talents in the editing phase of filmmaking. There were 48 editors, of which 12 editors were not popular and 6 of them were fresh into the film without any background. Interview methods were used to collect data on what helped them to get into the industry straight. The study found that the digital medium and the digital technology enabled them to get into the film industry.

Keywords: digital media, digital in cinema, digital era talents, emerging new talents

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Authors: Jafar Ahmadi, Alireza Pour-Aboughadareh

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Wheat is the first and the most important grain of the world and its bakery property is due to glutenin and gliadin qualities. Wheat seed proteins were divided into four groups according to solubility. Two groups are albumin and globulin dissolving in water and salt solutions possessing metabolic activities. Two other groups are inactive and non-dissolvable and contain glutelins or glutenins and prolamins or gliadins. Gliadins are major components of the storage proteins in wheat endosperm. Gliadin proteins are separated into three groups based on electrophoretic mobility: α/β-gliadin, γ-gliadin, and ω-gliadin. It seems that little information is available about gliadin genes in Iranian wild relatives of wheat. Thus, the aim of this study was the evaluation of the wheat wild relatives collected from different origins of Zagros Mountains in Iran, involving coding gliadin genes using specific primers. For this, forty accessions of Triticum boeoticum and Triticum urartu were selected. For each accession, genomic DNA was extracted and PCRs were performed in total volumes of 15 μl. The amplification products were separated on 1.5% agarose gels. In results, for Gli-2A locus, three allelic variants were detected by Gli-2As primer pairs. The sizes of PCR products for these alleles were 210, 490 and 700 bp. Only five (13%) and two accessions (5%) produced 700 and 490 bp fragments when their DNA was amplified with the Gli.As.2 primer pairs. However, 37 of the 40 accessions (93%) carried 210 bp allele, and three accessions (8%) did not yield any product for this marker. Therefore, these germplasm could be used as rich gene pool to broaden the genetic base of bread wheat.

Keywords: diploied wheat, gliadin, Triticum boeoticum, Triticum urartu

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Authors: Godwin Chigozie Okpara

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This paper using standard GARCH, EGARCH, and TARCH models on day of the week return series (of 246 days) from the Nigerian Stock market estimated the model variants’ VaR. An asymmetric return distribution and fat-tail phenomenon in financial time series were considered by estimating the models with normal, student t and generalized error distributions. The analysis based on Akaike Information Criterion suggests that the EGARCH model with student t innovation distribution can furnish more accurate estimate of VaR. In the light of this, we apply the likelihood ratio tests of proportional failure rates to VaR derived from EGARCH model in order to determine the short and long positions VaR performances. The result shows that as alpha ranges from 0.05 to 0.005 for short positions, the failure rate significantly exceeds the prescribed quintiles while it however shows no significant difference between the failure rate and the prescribed quantiles for long positions. This suggests that investors and portfolio managers in the Nigeria stock market have long trading position or can buy assets with concern on when the asset prices will fall. Precisely, the VaR estimates for the long position range from -4.7% for 95 percent confidence level to -10.3% for 99.5 percent confidence level.

Keywords: downside risk, value-at-risk, failure rate, kupiec LR tests, GARCH models

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Authors: Leonor Varandas, Pedro D. Gaspar, Martim L. Aguiar

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One of the biggest concerns in the field of agriculture is around the energy efficiency of robots that will perform agriculture’s activity and their charging methods. In this paper, two different charging methods for agricultural standalone docking stations are shown that will take into account various variants as field size and its irregularities, work’s nature to which the robot will perform, deadlines that have to be respected, among others. Its features also are dependent on the orchard, season, battery type and its technical specifications and cost. First charging base method focuses on wireless charging, presenting more benefits for small field. The second charging base method relies on battery replacement being more suitable for large fields, thus avoiding the robot stop for recharge. Existing many methods to charge a battery, the CC CV was considered the most appropriate for either simplicity or effectiveness. The choice of the battery for agricultural purposes is if most importance. While the most common battery used is Li-ion battery, this study also discusses the use of graphene-based new type of batteries with 45% over capacity to the Li-ion one. A Battery Management Systems (BMS) is applied for battery balancing. All these approaches combined showed to be a promising method to improve a lot of technical agricultural work, not just in terms of plantation and harvesting but also about every technique to prevent harmful events like plagues and weeds or even to reduce crop time and cost.

Keywords: agricultural mobile robot, charging methods, battery replacement method, wireless charging method

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Authors: Alfrina Marwan, Erna Sulistyawati

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Class III malocclusion shows both skeletal and dentoalveolar component. Sketal Class III malocclusion can have variants in different region, maxilla or mandibular. Skeletal Class III malocclusion during growth period is considered to treat to prevent its severity in adulthood. Orthopedics treatment of skeletal Class III malocclusion in growing patient can be treated by using reverse twin block with expansion screw to modify the growth pattern. The objective of this case report was to describe the functional correction of skeletal Class III maloclussion using reverse twin block with expansion screw in growing patient. A patient with concave profile came with a chief complaint of aesthetic problems. The cephalometric analysis showed that patient had skeletal Class III malocclusion (ANB -5⁰, SNA 75º, Wits appraisal -3 mm) with anterior cross bite and deep bite (overjet -3 mm, overbite 6 mm). In this case report, the patient was treated with reverse twin block appliance with expansion screw. After three months of treatment, the skeletal problems have been corrected (ANB -1°), overjet, overbite and aesthetic were improved. Reverse twin block appliance with expansion screw can be used as orthopedics treatment for skeletal Class III malocclusion in growing patient and can improve the aesthetic with great satisfaction which was the main complaint in this patient.

Keywords: maxilla retrognatism, reverse twin block, skeletal class III malocclusion, growing patient

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Authors: Salif Koné

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We analyze hydrometric data at the Koulikoro station on the Niger River; this basin drains 120600 km2 and covers three countries in West Africa, Guinea, Mali, and Ivory Coast. Two subsequent decadal cycles are highlighted (1925-1936 and 1929-1939) instead of the presumed single decadal one from literature. Moreover, the observed hydrometric data shows a multidecadal 40-year period that is confirmed when graphing a spatial coefficient of variation of runoff over decades (starting at 1901-1910). Spatial runoff data are produced on 48 grids (0.5 degree by 0.5 degree) and through semi-distributed versions of both SimulHyd model and GR2M model - variants of a French Hydrologic model – standing for Genie Rural of 2 parameters at monthly time step. Both extremal decades in terms of runoff coefficient of variation are confronted: 1951-1960 has minimal coefficient of variation, and 1981-1990 shows the maximal value of it during the three months of high-water level (August, September, and October). The mapping of the relative variation of these two decadal situations allows hypothesizing as following: the scale of variation between both extremal situations could serve to fix boundary conditions for further simulations using data from climate scenario.

Keywords: internal cycles, hydrometric data, niger river, gr2m and simulhyd framework, runoff coefficient of variation

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Authors: Bastien Batardière, Joon Kwon

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For finite-sum optimization, variance-reduced gradient methods (VR) compute at each iteration the gradient of a single function (or of a mini-batch), and yet achieve faster convergence than SGD thanks to a carefully crafted lower-variance stochastic gradient estimator that reuses past gradients. Another important line of research of the past decade in continuous optimization is the adaptive algorithms such as AdaGrad, that dynamically adjust the (possibly coordinate-wise) learning rate to past gradients and thereby adapt to the geometry of the objective function. Variants such as RMSprop and Adam demonstrate outstanding practical performance that have contributed to the success of deep learning. In this work, we present AdaLVR, which combines the AdaGrad algorithm with loopless variance-reduced gradient estimators such as SAGA or L-SVRG that benefits from a straightforward construction and a streamlined analysis. We assess that AdaLVR inherits both good convergence properties from VR methods and the adaptive nature of AdaGrad: in the case of L-smooth convex functions we establish a gradient complexity of O(n + (L + √ nL)/ε) without prior knowledge of L. Numerical experiments demonstrate the superiority of AdaLVR over state-of-the-art methods. Moreover, we empirically show that the RMSprop and Adam algorithm combined with variance-reduced gradients estimators achieve even faster convergence.

Keywords: convex optimization, variance reduction, adaptive algorithms, loopless

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Authors: Monika Szymańska-Czerwińsk, Kinga Zaręba-Marchewka, Krzysztof Niemczuk

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Chlamydiaceae are Gram-negative bacteria distributed worldwide in animals and humans. One of them is Chlamydia gallinacea recently discovered. Available data show that C. gallinacea is dominant chlamydial agent found in poultry in European and Asian countries. The aim of the studies was screening of poultry flocks in order to evaluate frequency of C. gallinacea shedding and genetic diversity. Sampling was conducted in different regions of Poland in 2019-2020. Overall, 1466 cloacal/oral swabs were collected in duplicate from 146 apparently healthy poultry flocks including chickens, turkeys, ducks, geese and quails. Dry swabs were used for DNA extraction. DNA extracts were screened using a Chlamydiaceae 23S rRNA real-time PCR assay. To identify Chlamydia species, specific real-time PCR assays were performed. Furthermore, selected samples were used for sequencing based on ompA gene fragments and variable domains (VD1-2, VD3-4). In total, 10.3% of the tested flocks were Chlamydiaceae-positive (15/146 farms). The presence of Chlamydiaceae was confirmed mainly in chickens (13/92 farms) but also in turkey (1/19 farms) and goose (1/26 farms) flocks. Eleven flocks were identified as C. gallinacea-positive while four flocks remained unclassified. Phylogenetic analysis revealed at least 16 genetic variants of C. gallinacea. Research showed that Chlamydiaceae occur in a poultry flock in Poland. The strains of C. gallinacea as dominant species show genetic variability.

Keywords: C. gallinacea, emerging agent, poultry, real-time PCR

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Authors: Kelsi Hagerty, Ami Rosen, Aaliyah Heyward, Nadia Ali, Emily Brown, Erin Demo, Yue Guan, Modele Ogunniyi, Brianna McDaniels, Alanna Morris, Kunal Bhatt

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Hereditary transthyretin amyloidosis (hATTR) is a progressive, multi-systemic, and life-threatening disease caused by a disruption in the TTR protein that delivers thyroxine and retinol to the liver. This disruption causes the protein to misfold into amyloid fibrils, leading to the accumulation of the amyloid fibrils in the heart, nerves, and GI tract. Over 130 variants in the TTR gene are known to cause hATTR. The Val122Ile variant is the most common in the United States and is seen almost exclusively in people of African descent. TTR variants are inherited in an autosomal dominant fashion and have incomplete penetrance and variable expressivity. Individuals with hATTR may exhibit symptoms from as early as 30 years to as late as 80 years of age. hATTR is characterized by a wide range of clinical symptoms such as cardiomyopathy, neuropathy, carpal tunnel syndrome, and GI complications. Without treatment, hATTR leads to progressive disease and can ultimately lead to heart failure. hATTR disproportionately affects individuals of African descent; the estimated prevalence of hATTR among Black individuals in the US is 3.4%. Unfortunately, hATTR is often underdiagnosed and misdiagnosed because many symptoms of the disease overlap with other cardiac conditions. Due to the progressive nature of the disease, multi-systemic manifestations that can lead to a shortened lifespan, and the availability of free genetic testing and promising FDA-approved therapies that enhance treatability, early identification of individuals with a pathogenic hATTR variant is important, as this can significantly impact medical management for patients and their relatives. Furthermore, recent literature suggests that TTR genetic testing should be performed in all patients with suspicion of TTR-related cardiomyopathy, regardless of age, and that follow-up with genetic counseling services is recommended. Relatives of patients with hATTR benefit from genetic testing because testing can identify carriers early and allow relatives to receive regular screening and management. Despite the striking prevalence of hATTR among Black individuals, hATTR remains underdiagnosed in this patient population, and germline genetic testing for hATTR in Black individuals seems to be underrepresented, though the reasons for this have not yet been brought to light. Historically, Black patients experience a number of barriers to seeking healthcare that has been hypothesized to perpetuate the underdiagnosis of hATTR, such as lack of access and mistrust of healthcare professionals. Prior research has described a myriad of factors that shape an individual’s decision about whether to pursue presymptomatic genetic testing for a familial pathogenic variant, such as family closeness and communication, family dynamics, and a desire to inform other family members about potential health risks. This study explores these factors through 10 in-depth interviews with patients with hATTR about what factors may be contributing to the underdiagnosis of hATTR in the Black population. Participants were selected from the Emory University Amyloidosis clinic based on having a molecular diagnosis of hATTR. Interviews were recorded and transcribed verbatim, then coded using MAXQDA software. Thematic analysis was completed to draw commonalities between participants. Upon preliminary analysis, several themes have emerged. Barriers identified include i) Misdiagnosis and a prolonged diagnostic odyssey, ii) Family communication and dynamics surrounding health issues, iii) Perceptions of healthcare and one’s own health risks, and iv) The need for more intimate provider-patient relationships and communication. Overall, this study gleaned valuable insight from members of the Black community about possible factors contributing to the underdiagnosis of hATTR, as well as potential solutions to go about resolving this issue.

Keywords: cardiac amyloidosis, heart failure, TTR, genetic testing

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Authors: B. Lokuketagoda, M. Weerakoon, U. Madushan, A. N. Senaratne, K. Y. Abeywardena

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Ransomware has become a common threat in past few years and the recent threat reports show an increase of growth in Ransomware infections. Researchers have identified different variants of Ransomware families since 2015. Lack of knowledge of the user about the threat is a major concern. Ransomware detection methodologies are still growing through the industry. Email is the easiest method to send Ransomware to its victims. Uninformed users tend to click on links and attachments without much consideration assuming the emails are genuine. As a solution to this in this paper R-Killer Ransomware detection tool is introduced. Tool can be integrated with existing email services. The core detection Engine (CDE) discussed in the paper focuses on separating suspicious samples from emails and handling them until a decision is made regarding the suspicious mail. It has the capability of preventing execution of identified ransomware processes. On the other hand, Sandboxing and URL analyzing system has the capability of communication with public threat intelligence services to gather known threat intelligence. The R-Killer has its own mechanism developed in its Proactive Monitoring System (PMS) which can monitor the processes created by downloaded email attachments and identify potential Ransomware activities. R-killer is capable of gathering threat intelligence without exposing the user’s data to public threat intelligence services, hence protecting the confidentiality of user data.

Keywords: ransomware, deep learning, recurrent neural networks, email, core detection engine

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Authors: Jae Young Song, In-Ohk Ouh, Seyeon Park, Byeong Sul Kang, Soo Dong Cho, In-Soo Cho

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Canine parvovirus (CPV) is a major pathogen of diarrhea disease in dogs. CPV type 2 has three of antigenic variants such as 2a, 2b, and 2c. CPV constructs a small non-enveloped, icosahedral capsid that contains single-stranded DNA. It has capsids that two largely overlapping virion proteins (VP), VP1 (82 kDa), and VP2 (65 kDa). Baculoviruses are insect pathogens that regulate insect populations in nature and are being successfully used to control insect pests. The proteins produced in the baculovirus-expression system are used for instance for functional studies, vaccine preparations, or diagnostics. The vaccines produced by baculovirus-expression system showed elicitation of antibodies. The recombinant baculovirus infected SF9 cells showed broken shape. The recombinant VP2 proteins from cell pellet or supernatant were confirmed by western blotting. The result showed that the recombinant VP2 protein bands were appeared at 65 kDa molecular weight in both cell pellet and supernatant of infected SF9 cell. These results indicated that the recombinant baculovirus infected SF9 cell express the recombinant VP2 protein successfully. In addition, the expressed recombinant VP2 protein is secreted from cell to supernatant. The baculovirus expression system can be used to produce the VP2 protein of CPV 2c. In addition, the secretion property of the expression of VP2 protein may decrease the cost of production, because it can be skipped the cell breaking step. The produced VP2 protein could be used for vaccine and the agent of diagnostic tests. This study provides the foundation of the production of CPV 2c vaccine and the diagnostic agent.

Keywords: baculovirus, canine parvovirus 2c, dog, Korea

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Authors: Arati Inamdar, Siddharth Bhattacharyya, Kester Haye

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Collision tumors are rare entities characterized by neoplasms of two different cell populations with distinct separating boundaries. Such tumors could be benign, malignant, or a combination of both. The exact mechanism of origin for collision tumors is predicted to be tumor heterogeneity or concurrent occurrence of neoplasm in the same organ. We present two cases of plasmacytoma presenting as a collision tumor, one with a tumor of hematological origin and another with a non-hematological origin, namely Chronic Lymphocytic Leukemia and Adenocarcinoma of the colon, respectively. The immunohistochemical stains and flowcytometry analysis performed on the specimens aided incorrect diagnosis. Interestingly, neoplastic cells of plasmacytoma in the first case demonstrated strong cytokeratin along with weak Epithelial Specific Antigen/ Epithelial cell adhesion molecule Monoclonal Antibody (MOC31) positivity, indicating that the tumor may influence the microenvironment of the tumor in the vicinity. Furthermore, the next-generation sequencing studies performed on the specimen with plasmacytoma and chronic lymphocytic lymphoma demonstrated BReast CAncer gene (BRCA2) and Tumor Necrosis Factor Alpha Induced Protein 3 (TNFAIP3) as a disease associated variants suggestive of risk for multiple tumors including collision tumors. Our reports highlight the unique collision tumors involving plasmacytoma, which have never been reported previously, as well as provide necessary insights about the underline genetic aberrations and tumor heterogeneity through sequencing studies and allow clonality assessment for subsequent tumors.

Keywords: BRCA2, collision tumor, chronic lymphocytic leukemia, plasmacytoma

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Authors: Cheng-Yang Lee, Petrus Tang, Tzu-Hao Chang

Abstract:

Copy number variations (CNVs) have played an important role in many kinds of human diseases, such as Autism, Schizophrenia and a number of cancers. Many diseases are found in genome coding regions and whole exome sequencing (WES) is a cost-effective and powerful technology in detecting variants that are enriched in exons and have potential applications in clinical setting. Although several algorithms have been developed to detect CNVs using WES and compared with other algorithms for finding the most suitable methods using their own samples, there were not consistent datasets across most of algorithms to evaluate the ability of CNV detection. On the other hand, most of algorithms is using command line interface that may greatly limit the analysis capability of many laboratories. We create a series of simulated WES datasets from UCSC hg19 chromosome 22, and then evaluate the CNV detective ability of 19 algorithms from OMICtools database using our simulated WES datasets. We compute the sensitivity, specificity and accuracy in each algorithm for validation of the exome-derived CNVs. After comparison of 19 algorithms from OMICtools database, we construct a platform to install all of the algorithms in a virtual machine like VirtualBox which can be established conveniently in local computers, and then create a simple script that can be easily to use for detecting CNVs using algorithms selected by users. We also build a table to elaborate on many kinds of events, such as input requirement, CNV detective ability, for all of the algorithms that can provide users a specification to choose optimum algorithms.

Keywords: whole exome sequencing, copy number variations, omictools, pipeline

Procedia PDF Downloads 284

Authors: Jeansou Moun

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This study argues that constructivism and structuralism, which have been the two important schools of mathematical philosophy since the mid-19th century, can and should be synthesized into structure-constructivism. In fact, the philosophy of mathematics is divided into more than ten schools depending on the point of view. However, the biggest trend is Platonism which claims that mathematical objects are "abstract entities" that exists independently of the human mind and material objects. Its opposite is constructivism. According to the latter, mathematical objects are products of the construction of the human mind. However, whether the basis of the construction is a logical device, a symbolic system, or an empirical perception, it is subdivided into logicism, formalism, and intuitionism. However, these three schools themselves are further subdivided into various variants, and among them, structuralism, which emerged in the mid-20th century, is receiving the most attention. On the other hand, structuralism which emphasizes structure instead of individual objects, is divided into non-eliminative structuralism, which supports the a priori of structure, and non-eliminative structuralism, which rejects any abstract entity. In this context, it is believed that the structure itself is not an a priori entity but a result of the construction of the cognitive subject and that no object has ever been given to us in its full meaning from the outset. In other words, concepts are progressively structured through a dialectical cycle between sensory perception, imagination (abstraction), concepts, judgments, and reasoning. Symbols are needed for formal operation. However, without concrete manipulation, the formal operation cannot have any meaning. However, when formal structurization is achieved, the reality (object) itself is also newly structured. This is the "structure-constructivism".

Keywords: philosophy of mathematics, platonism, logicism, formalism, constructivism, structuralism, structure-constructivism

Procedia PDF Downloads 73

Authors: Chin Ku, Han liang Lin

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The purpose of this study is to visualize how the rule related to urban design influences the building form by 3D modeling software CityEngine. In order to make the goal of urban design clearly connect to urban form, urban planner or designer should understand how the rule affects the form, especially the building form. In Taiwan, the rule pertained to urban design includes traditional zoning, urban design review and building codes. However, zoning cannot precisely expect the outcome of building form and lack of thinking about public realm and 3D form. In addition to that, urban design review is based on case by case, do not have a comprehensive regulation plan and the building code is just for general regulation. Therefore, rule cannot make the urban form reach the vision or goal of the urban design. Consequently, another kind of zoning called Form-based code (FBC) has arisen. This study uses the component of FBC which pertained to urban fabric such as street width, block and plot size, etc., to be the variants of building form, and find out the relationship between the rule and building form. There are three stages of this research, it will start from a field survey of Taichung City in Taiwan to induce the rule-building form relationship by using cluster analysis and descriptive Statistics. Second, visualize the relationship through the parameterized and codified process in CityEngine which is the procedural modeling, and can analyze, monitor and visualize the 3D world. Last, compare the CityEngine result with real world to examine how extent do this model represent the real world appearance.

Keywords: 3D visualization, CityEngine, form-based code, urban form

Procedia PDF Downloads 519

Authors: Jonathan D. Moore, Mark G. Reith, David S. Long

Abstract:

Serious games (SGs) have been shown to be an effective teaching tool in many contexts. Because of the success of SGs, several design frameworks have been created to expedite the process of making original serious games to teach specific learning objectives (LOs). Even with these frameworks, the time required to create a custom SG from conception to implementation can range from months to years. Furthermore, it is even more difficult to design a game framework that allows an instructor to create customized game variants supporting multiple LOs within the same field. This paper proposes a refactoring methodology to apply the theoretical principles from well-established design frameworks to a pre-existing serious game. The expected result is a generalized game that can be quickly customized to teach LOs not originally targeted by the game. This methodology begins by describing the general components in a game, then uses a combination of two SG design frameworks to extract the teaching elements present in the game. The identified teaching elements are then used as the theoretical basis to determine the range of LOs that can be taught by the game. This paper evaluates the proposed methodology by presenting a case study of refactoring the serious game Battlespace Next (BSN) to teach joint military capabilities. The range of LOs that can be taught by the generalized BSN are identified, and examples of creating custom LOs are given. Survey results from users of the generalized game are also provided. Lastly, the expected impact of this work is discussed and a road map for future work and evaluation is presented.

Keywords: serious games, learning objectives, game design, learning theory, game framework

Procedia PDF Downloads 76

Authors: Meseret Berhanie Menkir

Abstract:

The present study explores folk dance, one of the folklore texts, its symbols, and its therapeutic role. As a case, the study concentrates on Astrio-Mariam and Merkorios Bera, celebrated on January 30 and February 3 at Deresgie-Mariam Church in Ethiopia. By taking a qualitative stance, the study analyses the meaning of folk dance, explains its role, and describes its types. The data gathered through observation, interview, and focus group discussion techniques are documented in field notes, audio, and video. The data obtained is analyzed using structural-functionalism, psychoanalysis, and semiotics. Accordingly, community members of all ages (mainly the Ethiopian Orthodox Tewahedo Church followers) participate in the performance. While the folk dance is a type of small group dance and group dance, the group has no feature of using men and women performing together. The folk dance's role is a form of healing and spiritual fulfilment besides entertainment. The folk dance also has sword dance characteristics; the study confirmed this feature in content and form. Moreover, the folk dance characterized by frequent shoulder and hand movements Wancha likleka (Horn-mug spin), Doro metet (Chicken drink), and sword dance depict wealth, heroism, and warfare. The instruments used in the performances are also alive, with religious symbols reaching from the drum, incense, and cross to the suffering of Jesus Christ from Hanna to Qeyafa, and references to the 12 Apostles.

Keywords: folk dance, festival, ritual, symbol, therapeutic

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Authors: Keaghan Brown

Abstract:

The prioritization of drug resistance mutations impacting protein folding or protein-drug and protein-DNA interactions within macromolecular systems is critical to the success of treatment regimens. With a continual increase in computational tools to assess these impacts, the need for scalability and reproducibility became an essential component of computational analysis and experimental research. Here it introduce a bioinformatics pipeline that combines several structural analysis tools in a simplified workflow, by optimizing the present computational hardware and software to automatically ease the flow of data transformations. Utilizing preestablished software tools, it was possible to develop a pipeline with a set of pre-defined functions that will automate mutation introduction into the HIV-1 Integrase protein structure, calculate the gain and loss of polar interactions and calculate the change in energy of protein fold. Additionally, an automated molecular dynamics analysis was implemented which reduces the constant need for user input and output management. The resulting pipeline, Automated Mutation Introduction and Analysis (AMIA) is an open source set of scripts designed to introduce and analyse the effects of mutations on the static protein structure as well as the results of the multi-conformational states from molecular dynamic simulations. The workflow allows the user to visualize all outputs in a user friendly manner thereby successfully enabling the prioritization of variant systems for experimental validation.

Keywords: automated workflow, variant prioritization, drug resistance, HIV Integrase

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Authors: Karissa Graham, Andrew Campbell-Lloyd

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The deep inferior epigastric artery perforator flap (DIEP) is used to reconstruct large volumes of tissue. The DIEP flap is based on the deep inferior epigastric artery (DIEA) and vein. Accurate knowledge of the anatomy of these vessels allows for efficient dissection of the flap, minimal damage to surrounding tissue, and a well vascularized flap. A 54 year old lady was assessed for bilateral delayed autologous reconstruction with DIEP free flaps. The right DIEA was consistent with the described anatomy. The left DIEA had a vessel branching shortly after leaving the external iliac artery and before entering the muscle. This independent branch entered the muscle and had a long intramuscular course to the largest perforator. The main DIEA vessel demonstrated a type II branching pattern but had perforators that were too small to have a viable DIEP flap. There were no communicating arterial branches between the independent vessel and DIEA, however, there was one venous communication between them. A muscle sparing transverse rectus abdominis muscle flap was raised using the main periumbilical perforator from the independent vessel. Our case report demonstrated an unreported anatomical variant of the DIEA. A few anatomical variants have been described in the literature, including a unilateral absent DIEA and peritoneal-cutaneous perforators that had no connection to the DIEA. Doing a pre-operative CTA helps to identify these rare anatomical variations, which leads to safer, more efficient, and effective operating.

Keywords: aberrant anatomy, CT angiography, DIEP anatomy, free flap

Procedia PDF Downloads 103

Authors: Zhuoneng Li, Zeeshan A. Rana, Karl W. Jenkins

Abstract:

In industry, to validate a case, often a multitude of simulation are required and in order to demonstrate confidence in the process where users tend to use a coarser mesh. Therefore, it is imperative to establish the coarsest mesh that could be used while keeping reasonable simulation accuracy. To date, the two most reliable, affordable and broadly used advanced simulations are the hybrid RANS (Reynolds Averaged Navier Stokes)/LES (Large Eddy Simulation) and wall modelled LES. The potentials in these two simulations will still be developed in the next decades mainly because the unaffordable computational cost of a DNS (Direct Numerical Simulation). In the wall modelled LES, the turbulence model is applied as a sub-grid scale model in the most inner layer near the wall. The RANS turbulence models cover the entire boundary layer region in a hybrid RANS/LES (Detached Eddy Simulation) and its variants, therefore, the RANS still has a very important role in the state of art simulations. This research focuses on the turbulence model mesh sensitivity analysis where various turbulence models such as the S-A (Spalart-Allmaras), SSG (Speziale-Sarkar-Gatski), K-Omega transitional SST (Shear Stress Transport), K-kl-Omega, γ-Reθ transitional model, v2f are evaluated within the OpenFOAM. The simulations are conducted on a fully developed turbulent flow over a flat plate where the skin friction coefficient as well as velocity profiles are obtained to compare against experimental values and DNS results. A concrete conclusion is made to clarify the mesh sensitivity for different turbulence models.

Keywords: mesh sensitivity, turbulence models, OpenFOAM, RANS

Procedia PDF Downloads 229