Search results for: genetic aetiology

Authors: D. R. Apoorva

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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare oculocutaneous disorder of genetic origin. This disorder results from mutations in the membrane-bound transcription factor protease site, two genes that impair cholesterol homeostasis, and the ability to cope with endoplasmic reticulum stress. We report a rare case of IFAP syndrome with an atypical presentation, and it was interesting to note that the child had patchy non-scarring alopecia over the scalp along with unilateral madarosis. To our best knowledge, this unique presentation has not been described earlier. The child presented with photophobia and unilateral ptosis. The child also had short stature and intellectual disability. Skin histopathology was nonspecific and consisted of dilated hair follicles with keratin plugs extending above the skin surface. This rare oculocutaneous disorder requires proper documentation so that identification of its variants may be possible in the future. Early recognition of atypical presentations can help in preventing cardiovascular complications, which remain the major cause of death.

Keywords: alopecia, photophobia, ichthyosis follicularis, IFAP syndrome

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Authors: Arkadiusz Mezyk, Wojciech Klein, Mariusz Pawlak, Jacek Gnilka

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The aortic heart valve stents should fulfill many criterions. These criteria have a strong impact on the geometrical shape of the stent. Usually, the final construction of stent is a result of many year experience and knowledge. Depending on patents claims, different stent shapes are produced by different companies. This causes difficulties for biomechanics engineers narrowing the domain of feasible solutions. The paper present optimization method for stent geometry defining by a specific analytical equation based on various mathematical functions. This formula was implemented as APDL script language in ANSYS finite element environment. For the purpose of simulation tests, a few parameters were separated from developed equation. The application of the genetic algorithms allows finding the best solution due to selected objective function. Obtained solution takes into account parameters such as radial force, compression ratio and coefficient of expansion on the transverse axial.

Keywords: aortic stent, optimization process, geometry, finite element method

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Authors: N. Ploysook, R. Rugsaj, C. Suvanjumrat

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The characteristic requirement for producing rectangular shape bottles was a uniform thickness of the plastic bottle wall. Die shaping was a good technique which controlled the wall thickness of bottles. An advance technology which was the finite element method (FEM) for blowing parison to be a rectangular shape bottle was conducted to reduce waste plastic from a trial and error method of a die shaping and parison control method. The artificial intelligent (AI) comprised of artificial neural network and genetic algorithm was selected to optimize the die gap shape from the FEM results. The application of AI technique could optimize the suitable die gap shape for the parison blow molding which did not depend on the parison control method to produce rectangular bottles with the uniform wall. Particularly, this application can be used with cheap blow molding machines without a parison controller therefore it will reduce cost of production in the bottle blow molding process.

Keywords: AI, bottle, die shaping, FEM

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Authors: K. Yadamma, K. Rudrama Devi

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The protective effect of Ginger Extract against cyclophosphamide induced cytotoxicity was evaluated in in vivo animal model using analysis of chromosomal aberrations in somatic cells of mice. Three doses of Ginger Extract (150mg/kg, 200mg/kg, and 250mg/kg body weight) were selected for modulation and given to animals after priming. The animals were sacrificed 24, 48, 72 hrs after the treatment and slides were prepared for the incidence of chromosomal aberrations in bone marrow cells of mice. When animals were treated with cyclophosphamide 50mg/kg, showed cytogenetic damage in somatic cells. However, a significant decrease was observed in the percentage of chromosomal aberrations when animals were primed with various doses of Ginger Extract. The present results clearly indicate the protective nature of Ginger Extract against cyclophosphamide induced genetic damage in mouse bone marrow cells.

Keywords: ginger extract, protection, bone marrow cells, swiss albino mice

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Authors: Bo Ram Choi, Ji Su Kim, Juyeon Cho, Hyukjin Lee

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Food contaminated by bacteria (E.coli), causes food poisoning, which occurs to many patients worldwide annually. We have introduced an application of rolling circle amplification (RCA) as a versatile biosensor and developed a diagnostic platform composed of capillary tube and microbeads for rapid and easy detection of Escherichia coli (E. coli). When specific mRNA of E.coli is extracted from cell lysis, rolling circle amplification (RCA) of DNA template can be achieved and can be visualized by beads aggregation in capillary tube. In contrast, if there is no bacterial pathogen in sample, no beads aggregation can be seen. This assay is possible to detect visually target gene without specific equipment. It is likely to the development of a genetic kit for point of care testing (POCT) that can detect target gene using microbeads.

Keywords: rolling circle amplification (RCA), Escherichia coli (E. coli), point of care testing (POCT), beads aggregation, capillary tube

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Authors: Rohita Gupta, G. S. Brah, R. Verma, C. S. Mukhopadhayay

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Although chicken strains show differences in susceptibility to a number of diseases, the underlying immunological basis is yet to be elucidated. In the present study, heterophils were subjected to LPS stimulation and total RNA extraction, further differential gene expression was studied in broiler, layer and indigenous Aseel strain by Real Time RT-PCR at different time periods before and after induction. The expression of the 14 AvBDs and chTLR 1, 2, 3, 4, 5, 7, 15 and 21 was detectable in heterophils. The expression level of most of the AvBDs significantly increased (P<0.05) 3 hours post in vitro lipopolysaccharide challenge. Higher expression level and stronger activation of most AvBDs, NFkB-1 and IRF-3 in heterophils was observed, with the stimulation of LPS in layer compared to broiler, and in Aseel compared to both layer and broiler. This investigation will allow more refined interpretation of immuno-genetic basis of the variable disease resistance/susceptibility in divergent stock of chicken including indigenous breed. Moreover this study will be helpful in formulation of strategy for isolation of antimicrobial peptides from heterophils.

Keywords: differential expression, heterophils, cytokines, defensin, TLR

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Authors: N. Hoosain, S. Nene, B. Pearce, C. Jacobs, M. Du Plessis, M. Benjeddou

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Organic Cation Transporters play a vital role in the absorption, tissue distribution and elimination of various substrates. Numerous studies have suggested that variations in non-synonymous single nucleotide polymorphisms (SNPs) of SLC22A2 could influence an individual’s response to various treatments, including clinically important drugs. This study is the first to determine the baseline frequency distribution for twenty SNPs of SLC22A2in the Zulu population. DNA was collected from 101 unrelated “healthy” Zulu participants. Genotypes of all samples were determined using a multiplex PCR and SNaPshot assay followed by the generation of the haplotype structure. This is the first time that the baseline frequency distribution of SNPs is reported for the Zulu population. Data from this study could be used in in vitro and in vivo pharmacogenetic and pharmacokinetic studies to evaluate the potential role the studied SNPs play in the therapeutic efficacy of clinically important drugs.

Keywords: SLC22A2 gene, SNaPshot assay, PCR, Zulu population

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Authors: Negin Parsamanesh, Saman Ameri-Mahabadi, Ali Nikfar, Mojdeh Mansouri, Hossein Chiti, Gita Fatemi Abhari

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Duchenne muscular dystrophy (DMD) is a severe progressive X-linked neuromuscular illness that affects movement through mutations in dystrophin gene. The mutation leads to insufficient, lack of or dysfunction of dystrophin. The cause of DMD was determined in an Iranian family. Exome sequencing was carried out along with a complete physical examination of the family. In silico methods were applied to find the alteration in the protein structure. The homozygous variant in DMD gene (NM-004006.2) was defined as c.2732-2733delTT (p.Phe911CysfsX8) in exon 21. In addition, phylogenetic conservation study of the human dystrophin protein sequence revealed that phenylalanine 911 is one of the evolutionarily conserved amino acids. In conclusion, our study indicated a new deletion in the DMD gene in the affected family. This deletion with an X-linked inheritance pattern is new in Iran. These findings could facilitate genetic counseling for this family and other patients in the future.

Keywords: duchenne muscular dystrophy, whole exome sequencing, iran, metabolic syndrome

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Authors: Mathuravech Thanaphon, Thephasit Nat

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The Electricity Generating Authority of Thailand (EGAT) is focusing on expanding its pumped storage hydropower (PSH) capacity to increase the reliability of the system during peak demand and allow for greater integration of renewables. To achieve this requirement, Thailand will have to double its current renewable electricity production. To address the challenges of balancing supply and demand in the grid with increasing levels of RE penetration, as well as rising peak demand, EGAT has already been studying the potential for additional PSH capacity for several years to enable an increased share of RE and replace existing fossil fuel-fired generation. In addition, the role that pumped-storage hydropower would play in fulfilling multiple grid functions and renewable integration. The proposed sites for new PSH would help increase the reliability of power generation in Thailand. However, most of the electricity generation will come from RE, chiefly wind and photovoltaic, and significant additional Energy Storage capacity will be needed. In this paper, the impact of integrating the PSH system on the adequacy of renewable rich power generating systems to reduce the thermal power generating units is investigated. The variations of system adequacy indices are analyzed for different PSH-renewables capacities and storage levels. Power Development Plan 2018 rev.1 (PDP2018 rev.1), which is modified by integrating a six-new PSH system and RE planning and development aftermath in 2030, is the very challenge. The system adequacy indices through power generation are obtained using Multi-Objective Genetic Algorithm (MOGA) Optimization. MOGA is a probabilistic heuristic and stochastic algorithm that is able to find the global minima, which have the advantage that the fitness function does not necessarily require the gradient. In this sense, the method is more flexible in solving reliability optimization problems for a composite power system. The optimization with hourly time step takes years of planning horizon much larger than the weekly horizon that usually sets the scheduling studies. The objective function is to be optimized to maximize RE energy generation, minimize energy imbalances, and minimize thermal power generation using MATLAB. The PDP2018 rev.1 was set to be simulated based on its planned capacity stepping into 2030 and 2050. Therefore, the four main scenario analyses are conducted as the target of renewables share: 1) Business-As-Usual (BAU), 2) National Targets (30% RE in 2030), 3) Carbon Neutrality Targets (50% RE in 2050), and 5) 100% RE or full-decarbonization. According to the results, the generating system adequacy is significantly affected by both PSH-RE and Thermal units. When a PSH is integrated, it can provide hourly capacity to the power system as well as better allocate renewable energy generation to reduce thermal generations and improve system reliability. These results show that a significant level of reliability improvement can be obtained by PSH, especially in renewable-rich power systems.

Keywords: pumped storage hydropower, renewable energy integration, system adequacy, power development planning, RE100, multi-objective genetic algorithm

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Authors: Chung-Young Lee, Se-Hee Ahn, Ilhwan Kim, Du-Min Go, Dae-Yong Kim, Jun-Gu Choi, Youn-Jeong Lee, Jae-Hong Kim, Hyuk-Joon Kwon

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The polymerase of avian influenza A virus (AIV) is a heterotrimer composed of PB2, PB1 and PA. PB2 plays a role in overcoming the host barrier; however, the genetic prerequisites for avian PB2 to acquire mammalian pathogenic mutations have not been well elucidated. Here, we demonstrated that key amino acid mutations (I66M, I109V and I133V, collectively referred to as MVV) of prototypic avian PB2 increase the replication efficiency of recombinant PR8 virus carrying the mutated PB2 in both avian and mammalian hosts. The MVV mutations caused no weight loss in mice, but they did allow replication in infected lungs, and the viruses acquired fatal mammalian pathogenic mutations such as Q591R/K, E627K, or D701N in the infected lungs. The MVV mutations are located at the interfaces of the trimer and are predicted to increase the strength of this structure. Thus, gaining MVV mutations might be the first step for AIV to acquire mammalian pathogenicity. These results provide new insights into the evolution of AIV in birds and mammals.

Keywords: avian influenza A virus, prototypic PB2, polymerase activity, mammalian pathogenicity, first-step mutations

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Authors: Mombaur Busisiwe, Lesosky Maia, Liebenberg Lisa, Heckmann Jeannine

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Introduction: To assess age- and gender-specific incidence rates (IR) of acetylcholine receptor (AChR)-antibody positive myasthenia gravis (MG) in South Africa, and geographical variation in incidence. Methods: IRs were calculated from positive AChR antibody laboratory data between 2011 and 2012, using 2011 population census data. Results:890 individuals were seropositive, for an annual IR of 8.5 per million. Age-standardized IR for early- (< 50) and late-onset (≥ 50) MG were 4.1 and 24 per million, respectively, and for juveniles, 4.3 per million. The IR between provinces ranged from 1 to 19 per million. Conclusions: In this Southern hemisphere African population, the overall IR and peak IR (in older men) for seropositive MG is comparable to that in Europe and North America, arguing against environmental factors. However, IRs may be higher among children with African genetic ancestry. Geographical variation in incidence underscores the importance of outreach programs for regions with limited resources.

Keywords: incidence rates (IR), acetylcholine receptor (AChR), myasthenia gravis (MG), South Africa

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Authors: Jiheon Park, Taekwang Kim, Kwang Ryel Ryu

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Electric automated guided vehicles (AGVs) are becoming popular in many automated container terminals nowadays because they are pollution-free and environmentally friendly vehicles for transporting the containers within the terminal. Since efficient operation of AGVs is critical for the productivity of the container terminal, the replacement of batteries of the AGVs must be conducted in a strategic way to minimize undesirable transportation interruptions. While a too frequent replacement may lead to a loss of terminal productivity by delaying container deliveries, missing the right timing of battery replacement can result in a dead AGV that causes a severer productivity loss due to the extra efforts required to finish post treatment. In this paper, we propose a strategy for battery replacement based on a scoring function of multiple criteria taking into account the current battery level, the distances to different battery stations, and the progress of the terminal job operations. The strategy is optimized using a genetic algorithm with the objectives of minimizing the total time spent for battery replacement as well as maximizing the terminal productivity.

Keywords: AGV operation, automated container terminal, battery replacement, electric AGV, strategy optimization

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Authors: P. S. Jagadeesh Kumar, Tracy Lin Huan, S. Meenakshi Sundaram

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Alzheimer’s disease is one of the prevalent kind of ailment, expected for impudent reconciliation or an effectual therapy is to be accredited hitherto. Probable detonation of patients in the upcoming years, and consequently an enormous deal of apprehension in early discovery of the disorder, this will conceivably chaperon to enhanced healing outcomes. Complex impetuosity of the brain is an observant symbolic of the disease and a unique recognition of genetic sign of the disease. Machine learning alongside deep learning and decision tree reinforces the aptitude to absorb characteristics from multi-dimensional data’s and thus simplifies automatic classification of Alzheimer’s disease. Susceptible testing was prophesied and realized in training the prospect of Alzheimer’s disease classification built on machine learning advances. It was shrewd that the decision trees trained with deep neural network fashioned the excellent results parallel to related pattern classification.

Keywords: Alzheimer's diagnosis, decision trees, deep neural network, machine learning, pattern classification

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Authors: R. Rajabpour, N. Talebbeydokhti, M. H. Ahmadi

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In recent years, new techniques for solving complex problems in engineering are proposed. One of these techniques is JPSO algorithm. With innovative changes in the nature of the jump algorithm JPSO, it is possible to construct a graph-based solution with a new algorithm called G-JPSO. In this paper, a new algorithm to solve the optimal control problem Fletcher-Powell and optimal control of pumps in water distribution network was evaluated. Optimal control of pumps comprise of optimum timetable operation (status on and off) for each of the pumps at the desired time interval. Maximum number of status on and off for each pumps imposed to the objective function as another constraint. To determine the optimal operation of pumps, a model-based optimization-simulation algorithm was developed based on G-JPSO and JPSO algorithms. The proposed algorithm results were compared well with the ant colony algorithm, genetic and JPSO results. This shows the robustness of proposed algorithm in finding near optimum solutions with reasonable computational cost.

Keywords: G-JPSO, operation, optimization, pumping station, water distribution networks

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Authors: Lu Yang, Meiyang Song, Xiang Yu, Wenhao Zhou, Chuntao Feng

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To address the problem that the FM continuous-wave radar (FMCW) extracts human vital sign signals which are susceptible to noise interference and low reconstruction accuracy, a new detection scheme for the sign signals is proposed. Firstly, an improved complete ensemble empirical modal decomposition with adaptive noise (ICEEMDAN) algorithm is applied to decompose the radar-extracted thoracic signals to obtain several intrinsic modal functions (IMF) with different spatial scales, and then the IMF components are optimized by a BP neural network improved by immune genetic algorithm (IGA). The simulation results show that this scheme can effectively separate the noise and accurately extract the respiratory and heartbeat signals and improve the reconstruction accuracy and signal-to-noise ratio of the sign signals.

Keywords: frequency modulated continuous wave radar, ICEEMDAN, BP neural network, vital signs signal

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Authors: Zhenyu Zhang, Hsi-Hsien Wei

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Highway network systems play a vital role in disaster response for disaster-damaged areas. Damaged bridges in such network systems can impede disaster response by disrupting transportation of rescue teams or humanitarian supplies. Therefore, emergency inspection and repair of bridges to quickly collect damage information of bridges and recover the functionality of highway networks is of paramount importance to disaster response. A widely used measure of a network’s capability to recover from disasters is resilience. To enhance highway network resilience, plenty of studies have developed various repair scheduling methods for the prioritization of bridge-repair tasks. These methods assume that repair activities are performed after the damage to a highway network is fully understood via inspection, although inspecting all bridges in a regional highway network may take days, leading to the significant delay in repairing bridges. In reality, emergency repair activities can be commenced as soon as the damage data of some bridges that are crucial to emergency response are obtained. Given that emergency bridge inspection and repair (EBIR) activities are executed simultaneously in the response phase, the real-time interactions between these activities can occur – the blockage of highways due to repair activities can affect inspection routes which in turn have an impact on emergency repair scheduling by providing real-time information on bridge damages. However, the impact of such interactions on the optimal emergency inspection routes (EIR) and emergency repair schedules (ERS) has not been discussed in prior studies. To overcome the aforementioned deficiencies, this study develops a routing and scheduling model for EBIR while accounting for real-time inspection-repair interactions to maximize highway network resilience. A stochastic, time-dependent integer program is proposed for the complex and real-time interacting EBIR problem given multiple inspection and repair teams at locations as set post-disaster. A hybrid genetic algorithm that integrates a heuristic approach into a traditional genetic algorithm to accelerate the evolution process is developed. Computational tests are performed using data from the 2008 Wenchuan earthquake, based on a regional highway network in Sichuan, China, consisting of 168 highway bridges on 36 highways connecting 25 cities/towns. The results show that the simultaneous implementation of bridge inspection and repair activities can significantly improve the highway network resilience. Moreover, the deployment of inspection and repair teams should match each other, and the network resilience will not be improved once the unilateral increase in inspection teams or repair teams exceeds a certain level. This study contributes to both knowledge and practice. First, the developed mathematical model makes it possible for capturing the impact of real-time inspection-repair interactions on inspection routing and repair scheduling and efficiently deriving optimal EIR and ERS on a large and complex highway network. Moreover, this study contributes to the organizational dimension of highway network resilience by providing optimal strategies for highway bridge management. With the decision support tool, disaster managers are able to identify the most critical bridges for disaster management and make decisions on proper inspection and repair strategies to improve highway network resilience.

Keywords: disaster management, emergency bridge inspection and repair, highway network, resilience, uncertainty

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Authors: Antonela Matana, Dubravka Brdar, Vesela Torlak, Marijana Popovic, Ivana Gunjaca, Ozren Polasek, Vesna Boraska Perica, Maja Barbalic, Ante Punda, Caroline Hayward, Tatijana Zemunik

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Parathyroid hormone (PTH) plays a critical role in the regulation of bone mineral metabolism and calcium homeostasis. Higher PTH levels are associated with heart failure, hypertension, coronary artery disease, cardiovascular mortality and poorer bone health. A twin study estimated that 60% of the variation in PTH concentrations is genetically determined. Only one GWAS of PTH concentration has been reported to date. Identified loci explained 4.5% of the variance in circulating PTH, suggesting that additional genetic variants remain undiscovered. Therefore, the aim of this study was to identify novel genetic variants associated with PTH levels in a general population. We have performed a GWAS meta-analysis on 2596 individuals originating from three Croatian cohorts: City of Split and the Islands of Korčula and Vis, within a large-scale project of “10,001 Dalmatians”. A total of 7 411 206 variants, imputed using the 1000 Genomes reference panel, with minor allele frequency ≥ 1% and Rsq ≥ 0.5 were analyzed for the association. GWAS within each data set was performed under an additive model, controlling for age, gender and relatedness. Meta-analysis was conducted using the inverse-variance fixed-effects method. Furthermore, to identify sex-specific effects, we have conducted GWAS meta-analyses analyzing males and females separately. In addition, we have performed biological pathway analysis. Four SNPs, representing one locus, reached genome-wide significance. The most significant SNP was rs11099476 on chromosome 4 (P=1.15x10-8), which explained 1.14 % of the variance in PTH. The SNP is located near the protein-coding gene RASGEF1B. Additionally, we detected suggestive association with SNPs, rs77178854 located on chromosome 2 in the DPP10 gene (P=2.46x10-7) and rs481121 located on chromosome 1 (P=3.58x10-7) near the GRIK1 gene. One of the top hits detected in the main meta-analysis, intron variant rs77178854 located within DPP10 gene, reached genome-wide significance in females (P=2.21x10-9). No single locus was identified in the meta-analysis in males. Fifteen biological pathways were functionally enriched at a P<0.01, including muscle contraction, ion homeostasis and cardiac conduction as the most significant pathways. RASGEF1B is the guanine nucleotide exchange factor, known to be associated with height, bone density, and hip. DPP10 encodes a membrane protein that is a member of the serine proteases family, which binds specific voltage-gated potassium channels and alters their expression and biophysical properties. In conclusion, we identified 2 novel loci associated with PTH levels in a general population, providing us with further insights into the genetics of this complex trait.

Keywords: general population, genome-wide association analysis, parathyroid hormone, single nucleotide polymorphisms.

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Authors: Dandan Zhang

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Elucidating the original relationship between historical materialism and German historicism from the internal dimension of intellectual history has important theoretical significance for deep understanding and interpretation of the essential characteristics of historical materialism. German historicism contains the triple deduction of scientific historicism, historical relativism, and vitalism. The historicism of science argues for its historical status as science in the name of objective, systematic, and typical research methods, and procedural principles. Historical relativism places history under the specific historical background to study epistemological and methodological issues about the nature of human beings and the value of history. German historicism walks up to natural and cultural relativism on the basis of romanticism. Vitalism emphasizes intuition, will, and experience of life from individuals and places history on the ontology of organic life and vitality. Historical materialism and German historicism have a theoretical relationship in the genetic field. The former criticizes and surpasses the latter. Meanwhile, in the evolution of German historicism, the differences between historical materialism with it are essential features of historical science.

Keywords: German historicism, scientific historicism, historical relativism, vitalism, historical materialism

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Authors: Nam-Kuk Kim, Jin Kim, Soomin Park, Changhee Lee, Mijin Chu, Seong-Hun Lee

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In this study, we conducted whole genome re-sequencing of 10 cultivars originated from five countries including Korea, China, India, Pakistan and Ethiopia with Sesamum indicum (Zhongzho No. 13) genome as a reference. Almost 80% of the whole genome sequences of the reference genome could be covered by sequenced reads. Numerous SNP and InDel were detected by bioinformatic analysis. Among these variants, 266,051 SNPs were identified as unique to countries. Pakistan and Ethiopia had high densities of SNPs compared to other countries. Three main clusters (cluster 1: Korea, cluster 2: Pakistan and India, cluster 3: Ethiopia and China) were recovered by neighbor-joining analysis using all variants. Interestingly, some variants were detected in DGAT1 (diacylglycerol O-acyltransferase 1) and FADS (fatty acid desaturase) genes, which are known to be related with fatty acid synthesis and metabolism. These results can provide useful information to understand the regional characteristics and develop DNA markers for origin discrimination of sesame.

Keywords: Sesamum indicum, NGS, SNP, DNA marker

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Authors: H. Zidoum, A. AlShareedah, S. Al Sawafi, A. Al-Ansari, B. Al Lawati

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Systemic lupus erythematosus (SLE) is an autoimmune disease with genetic and environmental components. SLE is characterized by a wide variability of clinical manifestations and a course frequently subject to unpredictable flares. Despite recent progress in classification tools, the early diagnosis of SLE is still an unmet need for many patients. This study proposes an interpretable disease classification model that combines the high and efficient predictive performance of CatBoost and the model-agnostic interpretation tools of Shapley Additive exPlanations (SHAP). The CatBoost model was trained on a local cohort of 219 Omani patients with SLE as well as other control diseases. Furthermore, the SHAP library was used to generate individual explanations of the model's decisions as well as rank clinical features by contribution. Overall, we achieved an AUC score of 0.945, F1-score of 0.92 and identified four clinical features (alopecia, renal disorders, cutaneous lupus, and hemolytic anemia) along with the patient's age that was shown to have the greatest contribution on the prediction.

Keywords: feature selection, classification, systemic lupus erythematosus, model interpretation, SHAP, Catboost

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Authors: Saeid H. Mobini, Monika Lulsdorf, Thomas D. Warkentin

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The length of the breeding cycle from seed to seed is a limiting factor in the development of improved homozygous lines for breeding or recombinant inbred lines (RILs) for genetic analysis. The objective of this research was to accelerate the production of field pea RILs through application of rapid generation technology (RGT). RGT is based on the principle of growing miniature plants in an artificial medium under controlled conditions, and allowing them to produce a few flowers which develop seeds that are harvested prior to normal seed maturity. We aimed to maintain population size and genetic diversity in regeneration cycles. The effects of flurprimidol (a gibberellin synthesis inhibitor), plant density, hydroponic system, scheduled fertilizer applications, artificial light spectrum, photoperiod, and light/dark temperature were evaluated in the development of RILs from a cross between cultivars CDC Dakota and CDC Amarillo. The main goal was to accelerate flowering while reducing maintenance and space costs. In addition, embryo rescue of immature seeds was tested for shortening the seed fill period. Data collected over seven generations included plant height, the percentage of plant survival, flowering rate, seed setting rate, the number of seeds per plant, and time from seed to seed. Applying 0.6 µM flurprimidol reduced the internode length. Plant height was decreased to approximately 32 cm allowing for higher plant density without a delay in flowering and seed setting rate. The three light systems (T5 fluorescent bulbs, LEDs, and High Pressure Sodium +Metal-halide lamp) evaluated did not differ significantly in terms of flowering time in field pea. Collectively, the combination of 0.6 µM flurprimidol, 217 plant. m-2, 20 h photoperiod, 21/16 oC light/dark temperature in a hydroponic system with vermiculite substrate, applying scheduled fertilizer application based on growth stage, and 500 µmole.m-2.s-1 light intensity using T5 bulbs resulted in 100% of plants flowering within 34 ± 3 days and 96.5% of plants completed seed setting in 68.2 ± 3.6 days, i.e., 30-45 days/generation faster than conventional single seed descent (SSD) methods. These regeneration cycles were reproducible consistently. Hence, RGT could double (5.3) generations per year, using 3% occupying space, compared to SSD (2-3 generation/year). Embryo rescue of immature seeds at 7-8 mm stage, using commercial fertilizer solutions (Holland’s Secret™) showed seed setting rate of 95%, while younger embryos had lower germination rate. Mature embryos had a seed setting rate of 96.5% without either hormones or sugar added. So, considering the higher cost of embryo rescue using a procedure which requires skill, additional materials, and expenses, it could be removed from RGT with a further cost saving, and the process could be stopped between generations if required.

Keywords: field pea, flowering, rapid regeneration, recombinant inbred lines, single seed descent

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Authors: Jenson George, Thoa Nguyen, Garth Sanewski, Craig Hardner, Heather Eunice Smyth

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Pineapple (Ananas comosus), with its unique sweet flavour, is one of the most popular tropical, non-climacteric fruits consumed worldwide. It is also the third most important tropical fruit in world production. In Australia, 99% of the pineapple production is from the Queensland state due to the favourable subtropical climatic conditions. The flavourful fruit is known to contain around 500 volatile organic compounds (VOC) at varying concentrations and greatly contribute to the flavour quality of pineapple fruit by providing distinct aroma sensory properties that are sweet, fruity, tropical, pineapple-like, caramel-like, coconut-like, etc. The aroma of pineapple is one of the important factors attracting consumers and strengthening the marketplace. To better understand the aroma of Australian-grown pineapples, the matrix-matched Gas chromatography–mass spectrometry (GC-MS), Head Space - Solid-phase microextraction (HS-SPME), Stable-isotope dilution analysis (SIDA) method was developed and validated. The developed method represents a significant improvement over current methods with the incorporation of multiple external reference standards, multiple isotopes labeled internal standards, and a matching model system of pineapple fruit matrix. This method was employed to quantify 28 key aroma compounds in more than 200 genetically diverse pineapple varieties from a breeding program. The Australian pineapple cultivars varied in content and composition of free volatile compounds, which were predominantly comprised of esters, followed by terpenes, alcohols, aldehydes, and ketones. Using selected commercial cultivars grown in Australia, and by employing the sensorial analysis, the appearance (colour), aroma (intensity, sweet, vinegar/tang, tropical fruits, floral, coconut, green, metallic, vegetal, fresh, peppery, fermented, eggy/sulphurous) and texture (crunchiness, fibrousness, and juiciness) were obtained. Relationships between sensory descriptors and volatiles were explored by applying multivariate analysis (PCA) to the sensorial and chemical data. The key aroma compounds of pineapple exhibited a positive correlation with corresponding sensory properties. The sensory and volatile data were also used to explore genetic diversity in the breeding population. GWAS was employed to unravel the genetic control of the pineapple volatilome and its interplay with fruit sensory characteristics. This study enhances our understanding of pineapple aroma (flavour) compounds, their biosynthetic pathways and expands breeding option for pineapple cultivars. This research provides foundational knowledge to support breeding programs, post-harvest and target market studies, and efforts to optimise the flavour of commercial pineapple varieties and their parent lines to produce better tasting fruits for consumers.

Keywords: Ananas comosus, pineapple, flavour, volatile organic compounds, aroma, Gas chromatography–mass spectrometry (GC-MS), Head Space - Solid-phase microextraction (HS-SPME), Stable-isotope dilution analysis (SIDA).

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Authors: Hayal Akyildirim Beğen, Özgür Emi̇nağaoğlu

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DNA barcoding is the method of description of species based on gene diversity. In current studies, registration, genetic identification and protection of especially endemic plants pecies are carried out by DNA barcoding techniques. Molecular studies are based on the amplification and sequencing of the barcode gene region by the PCR method. Endemic Campanula choruhensis Kit Tan & Sorger, Campanula troegera Damboldt and Campanula betulifolia K.Koch is widespread in Artvin, Erzurum and around Çoruh valley passing through it. Intense road and dam constructions are carried out in and around the distribution area of this species. This situation harms the habitat of the species and puts its extinction. In this study, the plastid matK barcode gene regions (650 bp) of three Campanula species were created. To make the identification of this species quickly and accurately, gene sequence compared with sequences of other Campanula L. species. As a result of phylogenetic analysis, C. choruhensis is close relative to C. betulifolia. Morphologically, these species were determined to be more similar to each other with flower and leaf characters. C. troegera formed a separate branch.

Keywords: campanula, DNA barcoding, endemic, türkiye, artvin

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Authors: Badr M. Alshammari, T. Guesmi

Abstract:

In this paper, the concept of a non-dominated sorting multi-objective particle swarm optimization with local search (NSPSO-LS) is presented for the optimal design of multimachine power system stabilizers (PSSs). The controller design is formulated as an optimization problem in order to shift the system electromechanical modes in a pre-specified region in the s-plan. A composite set of objective functions comprising the damping factor and the damping ratio of the undamped and lightly damped electromechanical modes is considered. The performance of the proposed optimization algorithm is verified for the 3-machine 9-bus system. Simulation results based on eigenvalue analysis and nonlinear time-domain simulation show the potential and superiority of the NSPSO-LS algorithm in tuning PSSs over a wide range of loading conditions and large disturbance compared to the classic PSO technique and genetic algorithms.

Keywords: multi-objective optimization, particle swarm optimization, power system stabilizer, low frequency oscillations

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Authors: Kumaran Narayanan, Andrew N. Osahor

Abstract:

E. coli has been engineered by our group and by others as a vector to deliver DNA into cultured human and animal cells. However, so far conditions to improve gene delivery using this vector have not been investigated, resulting in a major gap in our understanding of the requirements for this vector to function optimally. Our group recently published novel data showing that simple addition of the DNA transfection reagent Lipofectamine increased the efficiency of the E. coli vector by almost 3-fold, providing the first strong evidence that further optimization of bactofection is possible. This presentation will discuss advances that demonstrate the effects of several intracellular strategies that improve the efficiency of this vector. Conditions that promote endosomal escape of internalized bacteria to evade lysosomal destruction after entry in the cell, a known obstacle limiting this vector, are elucidated. Further, treatments that increase bacterial lysis so that the vector can release its transgene into the mammalian environment for expression will be discussed. These experiments will provide valuable new insight to advance this E. coli system as an important class of vector technology for genetic correction of human disease models in cells and whole animals.

Keywords: DNA, E. coli, gene expression, vector

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Authors: Hossam Abdelrahman, Sama Rostom, Reem Yassein, Yara Mohamed, Salma Salah, Nour Awny

Abstract:

In today’s environment, people are becoming increasingly interested in their appearance. However, they are afraid of their unknown appearance after a plastic surgery or treatment. Accidents, burns and genetic problems such as bowing of body parts of people have a negative impact on their mental health with their appearance and this makes them feel uncomfortable and underestimated. The approach presents a revolutionary deep learning-based image inpainting method that analyses the various picture structures and corrects damaged images. In this study, A model is proposed based on the in-painting of medical images with Stable Diffusion Inpainting method. Reconstructing missing and damaged sections of an image is known as image inpainting is a key progress facilitated by deep neural networks. The system uses the input of the user of an image to indicate a problem, the system will then modify the image and output the fixed image, facilitating for the patient to see the final result.

Keywords: generative adversarial network, large mask inpainting, stable diffusion inpainting, plastic surgery

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Authors: Anujendra, Parag Kumar Guha Thakurta

Abstract:

The data transmission between mobile hosts and base stations (BSs) in Mobile networks are often vulnerable to failure. Thus, efficient link connectivity, in terms of the services of both base stations and communication channels of the network, is required in wireless mobile networks to achieve highly reliable data transmission. In addition, it is observed that the number of blocked hosts is increased due to insufficient number of channels during heavy load in the network. Under such scenario, the channels are allocated accordingly to offer a reliable communication at any given time. Therefore, a reliability-based channel allocation model with acceptable system performance is proposed as a MOO problem in this paper. Two conflicting parameters known as Resource Reuse factor (RRF) and the number of blocked calls are optimized under reliability constraint in this problem. The solution to such MOO problem is obtained through NSGA-II (Non-dominated Sorting Genetic Algorithm). The effectiveness of the proposed model in this work is shown with a set of experimental results.

Keywords: base station, channel, GA, pareto-optimal, reliability

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Authors: Abdelhadi Adel, Kadri Ouahab

Abstract:

This paper proposes an improved approach based on MAS Architecture and Heuristic Algorithm for systematic maintenance to minimize makespan. We have implemented a problem-solving approach for optimizing the processing time, methods based on metaheuristics. The proposed approach is inspired by the behavior of the human body. This hybridization is between a multi-agent system and inspirations of the human body, especially genetics. The effectiveness of our approach has been demonstrated repeatedly in this paper. To solve such a complex problem, we proposed an approach which we have used advanced operators such as uniform crossover set and single point mutation. The proposed approach is applied to three preventive maintenance policies. These policies are intended to maximize the availability or to maintain a minimum level of reliability during the production chain. The results show that our algorithm outperforms existing algorithms. We assumed that the machines might be unavailable periodically during the production scheduling.

Keywords: multi-agent systems, emergence, genetic algorithm, makespan, systematic maintenance, scheduling, hybrid flow shop scheduling

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Authors: Gülseren Kırbaş Doğan, Emin Karakurt, Mushap Kuru, Hilmi Nuhoğlu

Abstract:

Developmental anomalies can be caused by defects in bone tissue, cartilage tissue, or primitive mesenchymal tissue. Genetic-, environmental-, teratogenic-, faulty breeding selection–, or feeding-related anomalies can be observed either locally or systemically. This study aimed to evaluate in detail the various anomalies in six calves according to pathological and anatomical investigations. Six calves were delivered to the Department of Pathology at the Kafkas University Faculty of Veterinary Medicine between 2017 and 2019. These calves comprised one with anencephaly, one with the diencephalic syndrome, one with Schistosoma reflexum, two with anasarca, and one with nasal and calvarium openings. After necropsy, samples were taken from the organs, foreseen, and routine pathological examinations were performed. Following these procedures, the calves were brought to the anatomy laboratory and anatomically examined. As a result, various anomalies in 6 calves were evaluated according to pathological and anatomical investigations. These findings are believed to contribute to the literature.

Keywords: anatomy, anomaly, calf, pathology

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Authors: Huseyi̇n Das, Bülent Tarim, Sunay Demi̇r, Nurçi̇n Küçükkent, Sevi̇l Cengi̇z, Engi̇n Tülek, Veci̇hi̇ Aksakal

Abstract:

Atak-S laying hens are a high-performance strain obtained by crossing of the Rhode Island Red (RIR) X the Barred Plymouth Rock (BR) and are being produced in the Ankara Poultry Research Institute since 1997. Phenotypic and genetic improving studies are continued for this strain. In this study, 2 from IGF and 1 from IGFBP2, totally 3 different SNP polymorphisms were examined in 200 Atak-S chickens. Genotypes of SNPs were compared using ANOVA to body weight and egg number thorough 32 weeks of age, body weight at sexual maturity, age at sexual maturity and also egg quality traits such as egg shell breaking strength, shell thickness, Haugh unit, albumen index, yolk index, shape index. Only IGF(a) locus was in agreement with Hardy-Weinberg equilibrium, while, the other loci were not. As a result of the performance comparisons to the 3 SNP loci, it was determined that there has a significant association (P<0.05) between only TC genotypes of the IGF(b) locus and body weight at 32 weeks of age, but there was not any association to the other traits.

Keywords: Atak-S, Igf, Igfbp2, single nucleotide polymorphism

Procedia PDF Downloads 351