Search results for: genetic diversity and viral proteins

Authors: Fahad Almehmadi, Abdullah Alrajhi, Bader K. Alaslab, Abdullah A. Al Qurashi, Hattan A. Hassani

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Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is an uncommon, inheritable cardiac disorder characterized by the progressive substitution of cardiac myocytes by fibro-fatty tissues. This pathologic substitution predisposes patients to ventricular arrhythmias and right ventricular failure. The underlying genetic defect predominantly involves genes encoding for desmosome proteins, particularly plakophilin-2 (PKP2). These aberrations lead to impaired cell adhesion, heightening the susceptibility to fibrofatty scarring under conditions of mechanical stress. Primarily, ARVD/C affects the right ventricle, but it can also compromise the left ventricle, potentially leading to biventricular heart failure. Clinical presentations can vary, spanning from asymptomatic individuals to those experiencing palpitations, syncopal episodes, and, in severe instances, sudden cardiac death. The establishment of a diagnostic criterion specifically tailored for ARVD/C significantly aids in its accurate diagnosis. Nevertheless, the task of early diagnosis is complicated by the disease's frequently asymptomatic initial stages, and the overall rarity of ARVD/C cases reported globally. In some cases, as exemplified by the adult female patient in this report, the disease may advance to terminal stages, rendering therapies like Ventricular Tachycardia (VT) ablation ineffective. This case underlines the necessity for increased awareness and understanding of ARVD/C to aid in its early detection and management. Through such efforts, we aim to decrease morbidity and mortality associated with this challenging cardiac disorder.

Keywords: ARVD/C, cardiology, interventional cardiology, cardiac electrophysiology

Procedia PDF Downloads 61

Authors: Mark Bezner, Shani Deri, Tom Trigano, Kfir Ben-Harush

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Intermediate filament (IF) proteins-based fibers are among the toughest fibers in nature, as was shown by native hagfish slime threads and by synthetic fibers that are based on type V IF-proteins, the nuclear lamins. It is assumed that their mechanical performance stems from two major factors: (1) the transition from elastic -helices to stiff-sheets during tensile load; and (2) the specific organization of the coiled-coil proteins into a hierarchical network of nano-filaments. Here, we investigated the interrelationship between these two factors by using wet-spun fibers based on C. elegans (Ce) lamin. We found that Ce-lamin fibers, whether assembled in aqueous or alcoholic solutions, had the same nonlinear mechanical behavior, with the elastic region ending at ~5%. The pattern of the transition was, however, different: the ratio between -helices and -sheets/random coils was relatively constant until a 20% strain for fibers assembled in an aqueous solution, whereas for fibers assembled in 70% ethanol, the transition ended at a 6% strain. This structural phenomenon in alcoholic solution probably occurred through the transition between compacted and extended conformation of the random coil, and not between -helix and -sheets, as cycle analyses had suggested. The different transition pattern can also be explained by the different higher order organization of Ce-lamins in aqueous or alcoholic solutions, as demonstrated by introducing a point mutation in conserved residue in Ce-lamin gene that alter the structure of the Ce-lamins’ nano-fibrils. In addition, biomimicking the layered structure of silk and hair fibers by coating the Ce-lamin fiber with a hydrophobic layer enhanced fiber toughness and lead to a reversible transition between -helix and the extended conformation. This work suggests that different hierarchical structures, which are formed by specific assembly conditions, lead to diverse secondary structure transitions patterns, which in turn affect the fibers’ mechanical properties.

Keywords: protein-based fibers, intermediate filaments (IF) assembly, toughness, structure-property relationships

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Authors: Kalsoom Shaikh, Saima Memon, Riffat Sultana

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Water pollution affects amphibians because they are intimately water dependent. The permeable skin makes amphibians very sensitive to the physico-chemical parameters of their aquatic environment. They spawn in water bodies where quality of water can affect the growth, development, and survival of their eggs which may die even before hatching into larvae or developing into adults due to water contamination. Considering the importance of amphibians in agriculture, food web, ecosystem and pharmaceutics as well as adverse impact of environmental degradation on them, present study was proposed to comprehensively determine the status of their diversity and habitats in Sindh province of Pakistan so as to execute monitoring for their conservation in future. Physico-chemical parameters including pH, EC (electric conductivity), TDS (total dissolved solids), T-Hard (total hardness), T-Alk (total alkalinity), Cl (chloride), CO₂ (carbon dioxide), SO₄ (sulphate), PO₄ (phosphate), NO₂ (nitrite) and NO₃ (nitrate) were analyzed from amphibian habitats using instruments and methodology of analytical grade. The results of present study after being compared with scientific data provided by different researchers and EPA (environmental protection agency), it was concluded that amphibian habitats consisted of high values of analyzed parameters except pH and CO₂. Entire study area required an urgent implementation of conservation actions for saving amphibians.

Keywords: amphibians, diversity, habitats, physico-chemical parameters, water quality, Pakistan, Sindh Province

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Authors: M. Barsa

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This paper argues that current liberal trade regimes have had the unfortunate effect of concentrating food production by area and by crop. While such hyper-specialization and standardization might be efficient under ordinary climate conditions, the increasing severity of climate shocks makes such a food production system especially vulnerable. Examining domestic US crop production, and the fact that similar patterns are evident worldwide, this paper explores the vulnerabilities of several major crops and suggests that the academic arguments surrounding increasing liberalization of trade are ill-suited to the climate challenges to come. Indeed, a case can be made that protectionist measures—especially by developing countries whose agricultural sectors are vulnerable to the cheap US and European exports—are increasingly necessary to scatter food production geographically and to retain a resilient diversity of crop varieties.

Keywords: climate change, crop resilience, diversity, international trade

Procedia PDF Downloads 127

Authors: Kalsoom Shaikh, Ghulam Sarwar Gachal, Saima Memon

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Our study aimed to assess diversity and habitats of amphibian fauna in Sindh province as amphibians are among most vulnerable animals and the risk of their extinction is increasing in many parts of world mainly due to habitat degradation. Present study consisted of field surveys and laboratory analytical work; field surveys were carried out to confirm amphibian diversity and collection of water samples from their habitats, whereas laboratory work was conducted for identification of species and analysis of water quality of habitats through physico-chemical parameters. For identification of amphibian species, morphology was thoroughly examined using taxonomic key, whereas water quality was assessed via physico-chemical parameters including pH, electric conductivity (EC), total dissolved solids (TDS), total hardness (T. Hard), total alkalinity (T. Alk), chloride (Cl), carbon dioxide (CO₂), sulfate (SO₄), phosphate (PO₄), nitrite (NO₂) and nitrate (NO₃) using material and methods of analytical grade. pH value was analyzed using pH meter, whereas levels of EC and TDS were recorded using conductivity meter and TDS meter, respectively. Other parameters with exception of non-metallic parameters (SO₄, PO₄, NO₂, and NO₃) were analyzed through distinct titration methods. Concentration of non-metallic parameters was evaluated using ultra-violet spectrophotometer. This study revealed existence of four amphibian species including Hoplobatrachus tigerinus, Euphlyctis cyanophlyctis, Allopa hazarensis belonging to Family Ranidae and Bufo stomaticus (Family Bufonidae) randomly distributed in district Ghotki, Jamshoro, Kashmor, Larkana, Matiari and Shikarpur in Sindh. Assessment of aquatic habitats in different areas found value of parameters as followed: Habitats in district Ghoki (pH: 7.8 ± 0.3, EC: 2165.3 ± 712.6, TDS: 1507.0 ± 413.1, T-Hard: 416.4 ± 67.5, T. Alk: 393.4 ± 78.4, Cl: 362.4 ± 70.1, CO₂: 21.1 ± 3.5, SO₄: 429.3 ± 100.1, PO₄: 487.5 ± 122.5, NO₂: 13.7 ± 1.0, NO₃: 14.7 ± 2.5), district Jamshoro habitats (pH: 8.1 ± 0.4, EC: 2403.8 ± 55.4, TDS: 1697.2 ± 77.0, T. Hard: 548.7 ± 43.2, T. Alk: 294.4 ± 29.0, Cl: 454.7 ± 50.8 CO₂: 16.9 ± 2.4, SO₄: 713.0 ± 49.3, PO₄: 826.2 ± 53.0, NO₂: 15.2 ± 3.4, NO₃: 21.6 ± 3.7), habitats in Kashmor district (pH: 8.0 ± 0.5, EC: 2450.3 ± 610.9, TDS: 1745.3 ± 440.9, T. Hard: 624.6 ± 305.8, T. Alk: 445.7 ± 120.5, Cl: 448.9 ± 128.8, CO₂: 18.9 ± 4.5, SO₄: 619.8 ± 205.8, PO₄: 474.1 ± 94.2, NO₂: 15.2 ± 3.1, NO₃ 14.3 ± 2.6), district Larkana habitats (pH: 8.4 ± 0.4, EC: 2555.8 ± 70.3, TDS: 1784.4 ± 36.9, T. Hard: 623.0 ± 42.5, T. Alk: 329.6 ± 36.7, Cl: 614.3 ± 89.5, CO₂: 17.6 ± 1.2, SO₄: 845.1 ± 67.6, PO₄: 895.0 ± 61.4, NO₂: 13.6 ± 3.8, NO₃: 23.1 ± 2.8), district Matiari habitats (pH: 8.0 ± 0.4 EC: 2492.3 ± 928.1, TDS: 430.0 ± 161.3, T. Hard: 396.7 ± 183.3, T. Alk: 388.1 ± 97.4, Cl: 551.6 ± 73.4, CO₂: 15.8 ± 2.9, SO₄: 576.5 ± 200.0, PO₄: 434.7 ± 100.6, NO₂: 15.8 ± 2.9, NO₃: 15.2 ± 3.0) and habitats in Shikarpur district (pH: 8.1 ± 0.6, EC: 2191.7 ± 765.1, TDS: 1764.9 ± 409.2, T. Hard: 431.9 ± 68.4,T. Alk: 350.3 ± 44.3, Cl: 381.5 ± 29.5, CO₂: 18.0 ± 4.0, SO₄: 518.8 ± 97.9, PO₄: 493.6 ± 64.6, NO₂: 14.0 ± 0.8, NO₃: 16.1 ± 2.8). Values of physico-chemical parameters were found higher than permissible level of Environmental Protectiona Agency (EPA). Monthly variation in concentration of physico-chemical parameters was also prominently recorded at all the study locals. This study discovered poor diversity of amphibian fauna and condition of their habitats was also observed as pitiable. This study established base line information that may be used in execution of an effective management plan and future monitoring of amphibian diversity and their habitats in Sindh.

Keywords: amphibians, diversity, habitats, Pakistan, Sindh

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Authors: Abdelkadir Elhaouari

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The priciest thing in human life since his birth is his freedom, basing on this idea, the conflict exists till now, the fight against oppression, injustice, tyranny and slavery, searching for freedom and political resistances, and this makes the freedom is deeply related to the defense for its existence all over years. This project attempts using any way to preserve this freedom, and building and maintaining bases and rules to organize this life. Appeal is a one of the most important method that human uses to protect his freedom, and we will mention in this thesis our attempt to clarify this aspect to the individual. We can say that the law does not know just one color or one logic, and is not based on one rule to be taken by heart, but the law is neutrality, the diversity, abstraction and diligence diversity. The penal law is a valued law and it deserves to be studied and searched more… so that to attempt to master it. Our thesis is just a brief explanation of an important point in this law, where we attempt to clarify and simplify the image to the normal person, so that he can preserve his rights, and we hope that we had succeeded to choose the right topic for that.

Keywords: appeal, penalization, judgement, criminal

Procedia PDF Downloads 278

Authors: R. Nagarani

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An intrinsic property of software in a real-world environment is its need to evolve, which is usually accompanied by the increase of software complexity and deterioration of software quality, making software maintenance a tough problem. Refactoring is regarded as an effective way to address this problem. Many refactoring approaches at the method and class level have been proposed. But the extent of research on software refactoring at the package level is less. This work presents a novel approach to refactor the package structures of object oriented software using genetic algorithm based community detection. It uses software networks to represent classes and their dependencies. It uses a constrained community detection algorithm to obtain the optimized community structures in software networks, which also correspond to the optimized package structures. It finally provides a list of classes as refactoring candidates by comparing the optimized package structures with the real package structures.

Keywords: community detection, complex network, genetic algorithm, package, refactoring

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Authors: Abiodun Olayinka, Daniel Dzidzienyo, Pangirayi Tongoona, Samuel Offei, Edwige Gaby Nkouaya Mbanjo, Chiedozie Egesi, Ismail Yusuf Rabbi

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Cassava (Manihot esculenta Crantz) is a major source of starch for various industrial applications. However, the traditional cultivation and harvesting methods of cassava are labour-intensive and inefficient, limiting the supply of fresh cassava roots for industrial starch production. To achieve improved productivity and quality of fresh cassava roots through mechanized cultivation, cassava cultivars with compact plant architecture and moderate plant height are needed. Plant architecture-related traits, such as plant height, harvest index, stem diameter, branching angle, and lodging tolerance, are critical for crop productivity and suitability for mechanized cultivation. However, the genetics of cassava plant architecture remain poorly understood. This study aimed to identify the genetic bases of the relationships between plant architecture traits and productivity-related traits, particularly starch content. A panel of 453 clones developed at the International Institute of Tropical Agriculture, Nigeria, was genotyped and phenotyped for 18 plant architecture and productivity-related traits at four locations in Nigeria. A genome-wide association study (GWAS) was conducted using the phenotypic data from a panel of 453 clones and 61,238 high-quality Diversity Arrays Technology sequencing (DArTseq) derived Single Nucleotide Polymorphism (SNP) markers that are evenly distributed across the cassava genome. Five significant associations between ten SNPs and three plant architecture component traits were identified through GWAS. We found five SNPs on chromosomes 6 and 16 that were significantly associated with shoot weight, harvest index, and total yield through genome-wide association mapping. We also discovered an essential candidate gene that is co-located with peak SNPs linked to these traits in M. esculenta. A review of the cassava reference genome v7.1 revealed that the SNP on chromosome 6 is in proximity to Manes.06G101600.1, a gene that regulates endodermal differentiation and root development in plants. The findings of this study provide insights into the genetic basis of plant architecture and yield in cassava. Cassava breeders could leverage this knowledge to optimize plant architecture and yield in cassava through marker-assisted selection and targeted manipulation of the candidate gene.

Keywords: Manihot esculenta Crantz, plant architecture, DArtseq, SNP markers, genome-wide association study

Procedia PDF Downloads 66

Authors: Fadia Gafri, Kathryn Mckintosh, Louise Young, Alan Harvey, Simon Mackay, Andrew Paul, Robin Plevin

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Nuclear factor-kappa B (NF-κB) is a ubiquitous transcription factor found originally to play a key role in regulating inflammation. However considerable evidence links this pathway to the suppression of apoptosis, cellular transformation, proliferation and invasion (Aggarwal et al., 2006). Moreover, recent studies have also linked inflammation to cancer progression making NF-κB overall a promising therapeutic target for drug discovery (Dobrovolskaia & Kozlov, 2005). In this study we examined the effect of the natural product canthin-6-one (SU182) as part of a CRUK small molecule drug discovery programme for effects upon the NF-κB pathway. Initial studies demonstrated that SU182 was found to have good potency against the inhibitory kappa B kinases (IKKs) at 30M in vitro. However, at concentrations up to 30M, SU182 had no effect upon TNFα stimulated loss in cellular IκBα or p65 phosphorylation in the keratinocyte cell line NCTC2544. Nevertheless, 30M SU182 reduced TNF-α / PMA-induced NF-κB-linked luciferase reporter activity to (22.9 ± 5%) and (34.6± 3 %, P<0.001) respectively, suggesting an action downstream of IKK signalling. Indeed, SU182 neither decreased NF-κB-DNA binding as assayed by EMSA nor prevented the translocation of p65 (NF-κB) to the nucleus assessed by immunofluorescence and subcellular fractionation. In addition to the inhibition of transcriptional activity of TNFα-induced NF-κB reporter activity SU182 significantly reduced PMA-induced AP-1-linked luciferase reporter activity to about (48± 9% at 30M, P<0.001) . This mode of inhibition was not sufficient to prevent the activation of NF-κB dependent induction of other proteins such as COX-2 and iNOS, or activated MAP kinases (p38, JNK and ERK1/2) in LPS stimulated RAW 264.7 macrophages. Taken together these data indicate the potential for SU182 to interfere with the transcription factors NF-κB and AP-1 at transcriptional level. However, no potential anti-inflammatory effect was indicated, further investigation for other NF-κB dependent proteins linked to survival are also required to identify the exact mechanism of action.

Keywords: Canthin-6-one, NF-κB, AP-1, phosphorylation, Nuclear translocation, DNA-binding activity, inflammatory proteins.

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Authors: Hussain Syed Asad, Richard Kwok Kit Yuen, Gongsheng Huang

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Real-time optimization has been considered an effective approach for improving energy efficient operation of heating, ventilation, and air-conditioning (HVAC) systems. In model-based real-time optimization, model mismatches cannot be avoided. When model mismatches are significant, the performance of the real-time optimization will be impaired and hence the expected energy saving will be reduced. In this paper, the model mismatches for chiller plant on real-time optimization are considered. In the real-time optimization of the chiller plant, simplified semi-physical or grey box model of chiller is always used, which should be identified using available operation data. To overcome the model mismatches associated with the chiller model, hybrid Genetic Algorithms (HGAs) method is used for online real-time training of the chiller model. HGAs combines Genetic Algorithms (GAs) method (for global search) and traditional optimization method (i.e. faster and more efficient for local search) to avoid conventional hit and trial process of GAs. The identification of model parameters is synthesized as an optimization problem; and the objective function is the Least Square Error between the output from the model and the actual output from the chiller plant. A case study is used to illustrate the implementation of the proposed method. It has been shown that the proposed approach is able to provide reliability in decision making, enhance the robustness of the real-time optimization strategy and improve on energy performance.

Keywords: energy performance, hybrid adaptive modeling, hybrid genetic algorithms, real-time optimization, heating, ventilation, and air-conditioning

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Authors: Irina M. Kolesnikova, Andrey M. Gaponov, Sergey A. Roumiantsev, Tatiana V. Grigoryeva, Dilyara R. Khusnutdinova, Dilyara R. Kamaldinova, Alexander V. Shestopalov

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Background. Obese patients have unequal risks of metabolic disorders. It is accepted to distinguish between metabolically healthy obesity (MHO) and metabolically unhealthy obesity (MUHO). MUHO patients have a high risk of metabolic disorders, insulin resistance, and diabetes mellitus. Among the other things, the gut microbiota also contributes to the development of metabolic disorders in obesity. Obesity is accompanied by significant changes in the gut microbial community. In turn, bacterial translocation from the intestine is the basis for the blood microbiome formation. The aim was to study the features of the blood microbiome in patients with various metabolic types of obesity. Patients, materials, methods. The study included 116 healthy donors and 101 obese patients. Depending on the metabolic type of obesity, the obese patients were divided into subgroups with MHO (n=36) and MUHO (n=53). Quantitative and qualitative assessment of the blood microbiome was based on metagenomic analysis. Blood samples were used to isolate DNA and perform sequencing of the variable v3-v4 region of the 16S rRNA gene. Alpha diversity indices (Simpson index, Shannon index, Chao1 index, phylogenetic diversity, the number of observed operational taxonomic units) were calculated. Moreover, we compared taxa (phyla, classes, orders, and families) in terms of isolation frequency and the taxon share in the total bacterial DNA pool between different patient groups. Results. In patients with MHO, the characteristics of the alpha-diversity of the blood microbiome were like those of healthy donors. However, MUHO was associated with an increase in all diversity indices. The main phyla of the blood microbiome were Bacteroidetes, Firmicutes, Proteobacteria, and Actinobacteria. Cyanobacteria, TM7, Thermi, Verrucomicrobia, Chloroflexi, Acidobacteria, Planctomycetes, Gemmatimonadetes, and Tenericutes were found to be less significant phyla of the blood microbiome. Phyla Acidobacteria, TM7, and Verrucomicrobia were more often isolated in blood samples of patients with MUHO compared with healthy donors. Obese patients had a decrease in some taxonomic ranks (Bacilli, Caulobacteraceae, Barnesiellaceae, Rikenellaceae, Williamsiaceae). These changes appear to be related to the increased diversity of the blood microbiome observed in obesity. An increase of Lachnospiraceae, Succinivibrionaceae, Prevotellaceae, and S24-7 was noted for MUHO patients, which, apparently, is explained by a magnification in intestinal permeability. Conclusion. Blood microbiome differs in obese patients and healthy donors at class, order, and family levels. Moreover, the nature of the changes is determined by the metabolic type of obesity. MUHO linked to increased diversity of the blood microbiome. This appears to be due to increased microbial translocation from the intestine and non-intestinal sources.

Keywords: blood microbiome, blood bacterial DNA, obesity, metabolically healthy obesity, metabolically unhealthy obesity

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Authors: Simon B. N. Thompson

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Retinoblastoma is a rare type of childhood genetic cancer that affects children worldwide. The diagnosis is often missed due to lack of education and difficulty in presentation of the tumor. Frequently, the tumor on the retina is noticed by photography when the red-eye flash, commonly seen in normal eyes, is not produced. Instead, a yellow or white colored patch is seen or the child has a noticeable strabismus. Early detection can be life-saving though often results in removal of the affected eye. Remaining functioning in the healthy eye when the child is young has resulted in super-vision and high or above-average intelligence. Technological advancement of cameras has helped in early detection. Brain imaging has also made possible early detection of neurological diseases and, together with the monitoring of cortisol levels and yawning frequency, promises to be the next new early diagnostic tool for the detection of neurological diseases where cortisol insufficiency is particularly salient, such as multiple sclerosis and Cushing’s disease.

Keywords: cortisol, neurological disease, retinoblastoma, Thompson cortisol hypothesis, yawning

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Authors: Jephte Sompud, Emily A. Gilbert, Andy Russel Mojiol, Cynthia B. Sompud, Alim Biun

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Naturally regenerated acacia forest and secondary indigenous forest forms some of the urban forests in Sabah. Naturally regenerated acacia trees are usually seen along the road that exists as forest islands. Acacia tree is not an indigenous tree species in Sabah that was introduced in the 1960’s as fire breakers that eventually became one of the preferred trees for forest plantation for paper and pulp production. Due to its adaptability to survive even in impoverished soils and poor-irrigated land, this species has rapidly spread throughout Sabah through natural regeneration. Currently, there is a lack of study to investigate the bird population in the naturally regenerated acacia forest. This study is important because it shed some light on the role of naturally regenerated acacia forest on bird’s population, as bird is known to be a good bioindicator forest health. The aim of this study was to document the bird’s population in naturally regenerated acacia forest with that adjacent secondary indigenous forest. The study site for this study was at Universiti Malaysia Sabah (UMS) Campus. Two forest types in the campus were chosen as a study site, of which were naturally regenerated Acacia Forest and adjacent secondary indigenous forest, located at the UMS Hill. A total of 21 sampling days were conducted in each of the forest types. The method used during this study was solely mist nets with three pockets. Whenever a bird is caught, it is extracted from the net to be identified and measurements were recorded in a standard data sheet. Mist netting was conducted from 6 morning until 5 evening. This study was conducted between February to August 2014. Birds that were caught were ring banded to initiate a long-term study on the understory bird’s population in the Campus The data was analyzed using descriptive analysis, diversity indices, and t-test. The bird population diversity at naturally regenerated Acacia forest with those at the secondary indigenous forest was calculated using two common indices, of which were Shannon-Wiener and Simpson diversity index. There were 18 families with 33 species that were recorded from both sites. The number of species recorded at the naturally regenerated acacia forest was 26 species while at the secondary indigenous forest were 19 species. The Shannon diversity index for Naturally Regenerated Acacia Forest and secondary indigenous forests were 2.87 and 2.46. The results show that there was very significantly higher species diversity at the Naturally Regenerated Acacia Forest as opposed to the secondary indigenous forest (p<0.001). This suggests that Naturally Regenerated Acacia forest plays an important role in urban bird conservation. It is recommended that Naturally Regenerated Acacia Forests should be considered as an established urban forest conservation area as they do play a role in biodiversity conservation. More future studies in Naturally Regenerated Acacia Forest should be encouraged to determine the status and value of biodiversity conservation of this ecosystem.

Keywords: naturally regenerated acacia forest, bird population diversity, Universiti Malaysia Sabah, biodiversity conservation

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Authors: Folajinmi Oluwasina, Greg Abiaziem, Moses Luke, Mobolaji Kolawole, Nancy Yibowei, Anne Taiwo

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Background: Occurrence of HIV infection has an adverse effect on the natural causes of Hepatitis B Viral (HBV) infection, faster progression of hepatic fibrosis demonstrated in patients with co-infection. This study was carried out to determine the incidence of HBV infection among HIV-positive patients, and to retrospectively evaluate laboratory characteristics of patients with HIV/HBV co-infection. Methods: A retrospective analysis of patient files for all HIV-infected cases followed-up and treated at 52 health facilities. Among HIV-infected cases, those with HBsAg positivity and HIV/Hepatitis B co-infection were determined. Socio demographic, alcohol or substance use, ART, CD4, Viral Load levels and treatment durations were retrospectively evaluated. Results: Of the 125 HIV-infected patients evaluated retrospectively, 17 (13.6%) had HBsAg positivity. Of these 17 cases were 11(64.7%) male and 6 (35.3%) female, with a mean age of 48.7 years. No patients had a history of alcohol or substance use. The mean duration of follow up was 28 months. 9 (52.9%) patients had negative HBV DNA at presentation while 8(47%) had positive HBV DNA, with normal ALT levels in all subjects. Among the 9 cases with negative HBV DNA who had no indication for the treatment of chronic hepatitis B. In five cases, treatment was commenced since HBV DNA was elevated in conjunction with low CD4. One patient in whom treatment was not indicated based on HBV DNA and CD4 levels in conjunction with the absence of AIDS defining clinical picture was currently being followed-up without treatment. Of the patients receiving HAART therapy, the average CD4 count at presentation was 278 cells/mm3 vs. 466 cells/mm3 at the end of 12 months. In three subjects with positive HBV DNA, a decrease in HBV DNA was noted after initiation of treatment. In four patients with negative DNA who received treatment, the HBV DNA negative status was found to remain, while one patient who did not receive treatment had elevated HBV DNA and decreased CD4 levels. Conclusion: It was shown that this group of patients with HIV/HBV co-infection, HAART was found to be associated with a decrease in HBV DNA in HBV DNA positive cases, absence of transition to positivity among those with negative HBV DNA, and with increased CD4 in all subjects.

Keywords: Hepatitis B, DNA, anti retroviral therapy, co-infection

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Authors: Rachana Tank, Donald. M. Lyall, Kristin Flegal, Joey Ward, Jonathan Cavanagh

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Alzheimer’s research UK estimates by 2050, 2 million individuals will be living with Late Onset Alzheimer’s disease (LOAD). However, individuals experience considerable cognitive deficits and brain pathology over decades before reaching clinically diagnosable LOAD and studies have utilised gene candidate studies such as genome wide association studies (GWAS) and polygenic risk (PGR) scores to identify high risk individuals and potential pathways. This investigation aims to determine whether high genetic risk of LOAD is associated with worse brain MRI and cognitive performance in healthy older adults within the UK Biobank cohort. Previous studies investigating associations of PGR for LOAD and measures of MRI or cognitive functioning have focused on specific aspects of hippocampal structure, in relatively small sample sizes and with poor ‘controlling’ for confounders such as smoking. Both the sample size of this study and the discovery GWAS sample are bigger than previous studies to our knowledge. Genetic interaction between loci showing largest effects in GWAS have not been extensively studied and it is known that APOE e4 poses the largest genetic risk of LOAD with potential gene-gene and gene-environment interactions of e4, for this reason we  also analyse genetic interactions of PGR with the APOE e4 genotype. High genetic loading based on a polygenic risk score of 21 SNPs for LOAD is associated with worse brain MRI and cognitive outcomes in healthy individuals within the UK Biobank cohort. Summary statistics from Kunkle et al., GWAS meta-analyses (case: n=30,344, control: n=52,427) will be used to create polygenic risk scores based on 21 SNPs and analyses will be carried out in N=37,000 participants in the UK Biobank. This will be the largest study to date investigating PGR of LOAD in relation to MRI. MRI outcome measures include WM tracts, structural volumes. Cognitive function measures include reaction time, pairs matching, trail making, digit symbol substitution and prospective memory. Interaction of the APOE e4 alleles and PGR will be analysed by including APOE status as an interaction term coded as either 0, 1 or 2 e4 alleles. Models will be adjusted partially for adjusted for age, BMI, sex, genotyping chip, smoking, depression and social deprivation. Preliminary results suggest PGR score for LOAD is associated with decreased hippocampal volumes including hippocampal body (standardised beta = -0.04, P = 0.022) and tail (standardised beta = -0.037, P = 0.030), but not with hippocampal head. There were also associations of genetic risk with decreased cognitive performance including fluid intelligence (standardised beta = -0.08, P<0.01) and reaction time (standardised beta = 2.04, P<0.01). No genetic interactions were found between APOE e4 dose and PGR score for MRI or cognitive measures. The generalisability of these results is limited by selection bias within the UK Biobank as participants are less likely to be obese, smoke, be socioeconomically deprived and have fewer self-reported health conditions when compared to the general population. Lack of a unified approach or standardised method for calculating genetic risk scores may also be a limitation of these analyses. Further discussion and results are pending.

Keywords: Alzheimer's dementia, cognition, polygenic risk, MRI

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Authors: Walid Moudani, Ahmad Shahin

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This research presents a study to handle the recruitment services system. It aims to enhance a business intelligence system by embedding data mining in its core engine and to facilitate the link between job searchers and recruiters companies. The purpose of this study is to present an intelligent management system for supporting recruitment services based on data mining methods. It consists to apply segmentation on the extracted job postings offered by the different recruiters. The details of the job postings are associated to a set of relevant features that are extracted from the web and which are based on critical criterion in order to define consistent clusters. Thereafter, we assign the job searchers to the best cluster while providing a ranking according to the job postings of the selected cluster. The performance of the proposed model used is analyzed, based on a real case study, with the clustered job postings dataset and classified job searchers dataset by using some metrics.

Keywords: job postings, job searchers, clustering, genetic algorithms, business intelligence

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Authors: Valentina L. Kouznetsova, Jonathan W. Wang, Igor F. Tsigelny

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Metabolomics has become a rising field of research for various diseases, particularly cancer. Increases or decreases in metabolite concentrations in the human body are indicative of various cancers. Further elucidation of metabolic pathways and their significance in cancer research may greatly spur medicinal discovery. We analyzed the metabolomics profiles of lung cancer. Thirty-three metabolites were selected as significant. These metabolites are involved in 37 metabolic pathways delivered by MetaboAnalyst software. The top pathways are glyoxylate and dicarboxylate pathway (its hubs are formic acid and glyoxylic acid) along with Citrate cycle pathway followed by Taurine and hypotaurine pathway (the hubs in the latter are taurine and sulfoacetaldehyde) and Glycine, serine, and threonine pathway (the hubs are glycine and L-serine). We studied interactions of the metabolites with the proteins involved in cancer-related signaling networks, and developed an approach to metabolomics biomarker use in cancer diagnostics. Our analysis showed that a significant part of lung-cancer-related metabolites interacts with main cancer-related signaling pathways present in this network: PI3K–mTOR–AKT pathway, RAS–RAF–ERK1/2 pathway, and NFKB pathway. These results can be employed for use of metabolomics profiles in elucidation of the related cancer proteins signaling networks.

Keywords: cancer, metabolites, metabolic pathway, signaling pathway

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Authors: Inigo de Miguel Beriain

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Genetic data of deceased persons are of great interest for both biomedical research and clinical use. This is due to several reasons. On the one hand, many of our diseases have a genetic component; on the other hand, we share genes with a good part of our biological family. Therefore, it would be possible to improve our response considerably to these pathologies if we could use these data. Unfortunately, at the present moment, the status of data on the deceased is far from being satisfactorily resolved by the EU data protection regulation. Indeed, the General Data Protection Regulation has explicitly excluded these data from the category of personal data. This decision has given rise to a fragmented legal framework on this issue. Consequently, each EU member state offers very different solutions. For instance, Denmark considers the data as personal data of the deceased person for a set period of time while some others, such as Spain, do not consider this data as such, but have introduced some specifically focused regulations on this type of data and their access by relatives. This is an extremely dysfunctional scenario from multiple angles, not least of which is scientific cooperation at the EU level. This contribution attempts to outline a solution to this dilemma through an alternative proposal. Its main hypothesis is that, in reality, health data are, in a sense, a rara avis within data in general because they do not refer to one person but to several. Hence, it is possible to think that all of them can be considered data subjects (although not all of them can exercise the corresponding rights in the same way). When the person from whom the data were obtained dies, the data remain as personal data of his or her biological relatives. Hence, the general regime provided for in the GDPR may apply to them. As these are personal data, we could go back to thinking in terms of a general prohibition of data processing, with the exceptions provided for in Article 9.2 and on the legal bases included in Article 6. This may be complicated in practice, given that, since we are dealing with data that refer to several data subjects, it may be complex to refer to some of these bases, such as consent. Furthermore, there are theoretical arguments that may oppose this hypothesis. In this contribution, it is shown, however, that none of these objections is of sufficient substance to delegitimize the argument exposed. Therefore, the conclusion of this contribution is that we can indeed build a general framework on the processing of personal data of deceased persons in the context of the GDPR. This would constitute a considerable improvement over the current regulatory framework, although it is true that some clarifications will be necessary for its practical application.

Keywords: collective data conceptual issues, data from deceased people, genetic data protection issues, GDPR and deceased people

Procedia PDF Downloads 152

Authors: Arslan Ellahi, Syed Amjad Hussain

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Software Testing is a vital process in software development life cycle. We can attain the quality of software after passing it through software testing phase. We have tried to find out automatic test data generation techniques that are a key research area of software testing to achieve test automation that can eventually decrease testing time. In this paper, we review some of the approaches presented in the literature which use evolutionary search based algorithms like Genetic Algorithm, Particle Swarm Optimization (PSO), etc. to validate the test data generation process. We also look into the quality of test data generation which increases or decreases the efficiency of testing. We have proposed test data generation techniques for model-based testing. We have worked on tuning and fitness function of PSO algorithm.

Keywords: search based, evolutionary algorithm, particle swarm optimization, genetic algorithm, test data generation

Procedia PDF Downloads 185

Authors: Abiodun Olayinka, Daniel Dzidzienyo, Pangirayi Tongoona, Samuel Offei, Edwige Gaby Nkouaya Mbanjo, Chiedozie Egesi, Ismail Yusuf Rabbi

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Cassava (Manihot esculenta Crantz) is a major source of starch for various industrial applications. However, the traditional cultivation and harvesting methods of cassava are labour-intensive and inefficient, limiting the supply of fresh cassava roots for industrial starch production. To achieve improved productivity and quality of fresh cassava roots through mechanized cultivation, cassava cultivars with compact plant architecture and moderate plant height are needed. Plant architecture-related traits, such as plant height, harvest index, stem diameter, branching angle, and lodging tolerance, are critical for crop productivity and suitability for mechanized cultivation. However, the genetics of cassava plant architecture remain poorly understood. This study aimed to identify the genetic bases of the relationships between plant architecture traits and productivity-related traits, particularly starch content. A panel of 453 clones developed at the International Institute of Tropical Agriculture, Nigeria, was genotyped and phenotyped for 18 plant architecture and productivity-related traits at four locations in Nigeria. A genome-wide association study (GWAS) was conducted using the phenotypic data from a panel of 453 clones and 61,238 high-quality Diversity Arrays Technology sequencing (DArTseq) derived Single Nucleotide Polymorphism (SNP) markers that are evenly distributed across the cassava genome. Five significant associations between ten SNPs and three plant architecture component traits were identified through GWAS. We found five SNPs on chromosomes 6 and 16 that were significantly associated with shoot weight, harvest index, and total yield through genome-wide association mapping. We also discovered an essential candidate gene that is co-located with peak SNPs linked to these traits in M. esculenta. A review of the cassava reference genome v7.1 revealed that the SNP on chromosome 6 is in proximity to Manes.06G101600.1, a gene that regulates endodermal differentiation and root development in plants. The findings of this study provide insights into the genetic basis of plant architecture and yield in cassava. Cassava breeders could leverage this knowledge to optimize plant architecture and yield in cassava through marker-assisted selection and targeted manipulation of the candidate gene.

Keywords: manihot esculenta crantz, plant architecture, dartseq, snp markers, genome-wide association study

Procedia PDF Downloads 89

Authors: Hanbyul Kim, Hye-Jin Kin, Taehun Park, Woo Jun Sul, Susun An

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Skin is the largest organ of the human body and can provide the diverse habitat for various microorganisms. The ecology of the skin surface selects distinctive sets of microorganisms and is influenced by both endogenous intrinsic factors and exogenous environmental factors. The diversity of the bacterial community in the skin also depends on multiple host factors: gender, age, health status, location. Among them, age-related changes in skin structure and function are attributable to combinations of endogenous intrinsic factors and exogenous environmental factors. Skin aging is characterized by a decrease in sweat, sebum and the immune functions thus resulting in significant alterations in skin surface physiology including pH, lipid composition, and sebum secretion. The present study gives a comprehensive clue on the variation of skin microbiota and the correlations between ages by analyzing and comparing the metagenome of skin microbiome using Next Generation Sequencing method. Skin bacterial diversity and composition were characterized and compared between two different age groups: younger (20 – 30y) and older (60 - 70y) Xian, Chinese women. A total of 73 healthy women meet two conditions: (I) living in Xian, China; (II) maintaining healthy skin status during the period of this study. Based on Ribosomal Database Project (RDP) database, skin samples of 73 participants were enclosed with ten most abundant genera: Chryseobacterium, Propionibacterium, Enhydrobacter, Staphylococcus and so on. Although these genera are the most predominant genus overall, each genus showed different proportion in each group. The most dominant genus, Chryseobacterium was more present relatively in Young group than in an old group. Similarly, Propionibacterium and Enhydrobacter occupied a higher proportion of skin bacterial composition of the young group. Staphylococcus, in contrast, inhabited more in the old group. The beta diversity that represents the ratio between regional and local species diversity showed significantly different between two age groups. Likewise, The Principal Coordinate Analysis (PCoA) values representing each phylogenetic distance in the two-dimensional framework using the OTU (Operational taxonomic unit) values of the samples also showed differences between the two groups. Thus, our data suggested that the composition and diversification of skin microbiomes in adult women were largely affected by chronological and physiological skin aging.

Keywords: next generation sequencing, age, Xian, skin microbiome

Procedia PDF Downloads 148

Authors: Alana E. Jansen

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With such a large proportion of organisations relying on the use of team-based structures, it is surprising that so few teams would be classified as high-performance teams. While the impact of team composition on performance has been researched frequently, there have been conflicting findings as to the effects, particularly when examined alongside other team factors. To broaden the theoretical perspectives on this topic and potentially explain some of the inconsistencies in research findings left open by other various models of team effectiveness and high-performing teams, the present study aims to use the Job-Demands-Resources model, typically applied to burnout and engagement, as a framework to examine how team composition factors (particularly diversity in team member characteristics) can facilitate or hamper team effectiveness. This study used a virtual interview design where participants were asked to both rate and describe their experiences, in one high-performing and one low-performing team, over several factors relating to demands, resources, team composition, and team effectiveness. A semi-structured interview protocol was developed, which combined the use of the Likert style and exploratory questions. A semi-targeted sampling approach was used to invite participants ranging in age, gender, and ethnic appearance (common surface-level diversity characteristics) and those from different specialties, roles, educational and industry backgrounds (deep-level diversity characteristics). While the final stages of data analyses are still underway, thematic analysis using a grounded theory approach was conducted concurrently with data collection to identify the point of thematic saturation, resulting in 35 interviews being completed. Analyses examine differences in perceptions of demands and resources as they relate to perceived team diversity. Preliminary results suggest that high-performing and low-performing teams differ in perceptions of the type and range of both demands and resources. The current research is likely to offer contributions to both theory and practice. The preliminary findings suggest there is a range of demands and resources which vary between high and low-performing teams, factors which may play an important role in team effectiveness research going forward. Findings may assist in explaining some of the more complex interactions between factors experienced in the team environment, making further progress towards understanding the intricacies of why only some teams achieve high-performance status.

Keywords: diversity, high-performing teams, job demands and resources, team effectiveness

Procedia PDF Downloads 184

Authors: Tzuli Lin

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This paper aims to explore that the EU and Member State (UK) converges on cultural diplomacy to constitute an influential European external relations. It will address the development of EU cultural diplomacy and practice at Member state level. It also discusses the EU and Member States suffering in cultural resource overlapped. In contrast to the literature on the EU external relations, studies of the cultural dimension are rare. Thus, this paper will utilise the broad policy papers to explore how the cultural diversity among the Member States and the EU has a constructive progress at European level but not at Member State level. It can be argued that cultural component is the pivotal strategy for the stagnated EU external relations since the Euro crisis. The EU recognises that if it wants to promote the trade relations from the inside of Europe to outside, it requires the broad culture context among its traditional diplomacy, which brings the cultural component into a significant role. Even though in the area of Member State level, they share the fundamental value and idea, it does not elaborate Member States regarding the EU as a representative of European cultural diplomacy. In theory and practice, the discourse of Normative Power Europe (NPE) can be the analytic framework to construct the research of cultural diplomacy in Europe. NPE is an idea of the EU’s global role and spreading its norms to others. Moreover, Member States’ national interest has supreme priority rather than the EU. Therefore, this paper will utilise the UK as a case study to explore that cultural diplomacy shows fragmentation at European level. In the result, this paper will illustrate that the EU and the UK have mutual recognised each other as a partner not a leader.

Keywords: EU cultural diplomacy, cultural policy, cultural diversity, normative power

Procedia PDF Downloads 310

Authors: M. M. A. Abdalla, M. H. Aboul-Nasr, Shimaa H. Mosallam

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Ten RAPD markers were used to detect the genetic variability and relationships among four broccoli and three cabbage genotypes. The results of RAPD analysis showed that all the five primers surveyed detected polymorphism for all broccoli genotypes. A total of 39 DNA bands were amplified by the 5 primers from all genotype and 21 of these fragments showed polymorphism (53.85%). The rest of these bands (46.15%) were common between the four genotypes. On the other hand, all of the 7 primers surveyed, used with cabbage, detected polymorphism among all cabbage genotype. A total of 69 DNA bands were amplified by the 7 primers from all genotypes and 23 of these fragments showed polymorphism (33.33%). The rest of these bands (66.67%) were common between the three genotypes. The investigation suggested that the RAPD approach showed considerable potential for identifying and discriminating broccoli and cabbage genotypes.

Keywords: Brassica oleracea, genotypes, genetic markers, varietal identification, DNA polymorphism, RAPD markers

Procedia PDF Downloads 313

Authors: Fatima Muhammad Abdulkadir, D. B. Maikaje, Y. A. Umar

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A study conducted to determine cercariae diversity and prevalence of trematode infection in freshwater snails from six freshwater bodies selected by systematic random sampling in Kaduna State was carried from January 2013 to December 2013. Freshwater snails and cercariae harvested from the study sites were morphologically identified. A total of 23,823 freshwater snails were collected from the six freshwater bodies: Bagoma dam, Gimbawa dam, Kangimi dam, Kubacha dam, Manchok water intake and Saminaka water intake. The observed freshwater snail species were: Melanoides tuberculata, Biomphalaria pfeifferi, Bulinus globosus, Lymnaea natalensis, Physa sp., Cleopatra bulimoides, Bellamya unicolor and Lanistes varicus. The freshwater snails were exposed to artificial bright light from a 100 Watt electric bulb in the laboratory to induce cercarial shedding. Of the total freshwater snails collected, 10.55% released one or more types of cercariae. Seven morphological types of cercariae were shed by six freshwater snail species namely: Brevifurcate-apharyngeate distome, Amphistome, Gymnocephalus, Longifurcate-pharyngeate monostome, Longifurcate-pharyngeate distome, Echinostome and Xiphidio cercariae. Infection was monotype in most of the freshwater snails collected; however, Physa species presented a mixed infection with Gymnocephalus and Longifurcate-pharyngeate distome cercariae. B. globosus and B. pfeifferi were the most preferred intermediate hosts with the prevalence of 13.48% and 13.46%, respectively. The diversity and prevalence of cercariae varied among the six freshwater bodies with Manchok water intake having the highest infestation (14.3%) and the least recorded in Kangimi dam (3.9%). There was a correlation trend between the number of freshwater snails and trematode infection with Manchok exhibiting the highest and Bagoma none. The highest cercarial diversity was observed in B. pfeifferi and B. globosus with four morphotypes each, and the lowest was in M. tuberculata with one morphotype. The general distribution of freshwater snails and the trematode cercariae they shed suggests the risk of human and animals to trematodiasis in Manchok community. Public health education to raise awareness on individual and communal action that may control snail breeding sites, prevent transmission and provide access to treatment should be intensified.

Keywords: Cercariae, diversity, freshwater snails, prevalence, trematodiasis

Procedia PDF Downloads 228

Authors: Maryam Hasheminasab, Ahmed Cheldavi, Ahmed Kishk

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Frequency-diverse arrays (FDAs) have garnered significant attention from researchers due to their ability to combine frequency diversity with the inherent spatial diversity of an array. The introduction of frequency diversity in FDAs enables the generation of auto-scanning patterns that are range-dependent, which can have advantageous applications in communication and radar systems. However, the main challenge in implementing FDAs lies in determining the technique for distributing frequencies among the array elements. One approach to address this challenge is by utilizing coupled oscillators, which are a technique commonly employed in active microwave theory. Nevertheless, the limited stability range of coupled oscillators poses another obstacle to effectively utilizing this technique. In this paper, we explore the possibility of employing a coupled oscillator array in the mode lock state (MLS) for implementing frequency distribution in FDAs. Additionally, we propose and simulate the use of a digital phase-locked loop (DPLL) as a backup technique to stabilize the oscillators. Through simulations, we validate the functionality of this technique. This technique holds great promise for advancing the implementation of phased arrays and overcoming current scan rate and phase shifter limitations, especially in millimeter wave frequencies.

Keywords: angle-changing rate, auto scanning beam, pull-in range, hold-in range, locking range, mode locked state, frequency locked state

Procedia PDF Downloads 82

Authors: Zeinab Haji Abolhasani, Romeo Marian, Lee Luong

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This paper and its companions (Part II, Part III) will concentrate on optimizing a class of supply chain problems known as Multi- Commodities Consumer Supply Chain (MCCSC) problem. MCCSC problem belongs to production-distribution (P-D) planning category. It aims to determine facilities location, consumers’ allocation, and facilities configuration to minimize total cost (CT) of the entire network. These facilities can be manufacturer units (MUs), distribution centres (DCs), and retailers/end-users (REs) but not limited to them. To address this problem, three major tasks should be undertaken. At the first place, a mixed integer non-linear programming (MINP) mathematical model is developed. Then, system’s behaviors under different conditions will be observed using a simulation modeling tool. Finally, the most optimum solution (minimum CT) of the system will be obtained using a multi-objective optimization technique. Due to the large size of the problem, and the uncertainties in finding the most optimum solution, integration of modeling and simulation methodologies is proposed followed by developing new approach known as GASG. It is a genetic algorithm on the basis of granular simulation which is the subject of the methodology of this research. In part II, MCCSC is simulated using discrete-event simulation (DES) device within an integrated environment of SimEvents and Simulink of MATLAB® software package followed by a comprehensive case study to examine the given strategy. Also, the effect of genetic operators on the obtained optimal/near optimal solution by the simulation model will be discussed in part III.

Keywords: supply chain, genetic algorithm, optimization, simulation, discrete event system

Procedia PDF Downloads 310

Authors: Manvender Singh

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Temperature is one of the most important climatic parameter for explaining the geographic distribution of ectothermic species. Empirical investigations on norms of the reaction according to developmental temperatures are helpful in analyzing the adapture capacity of a species which may be related to its ecological niche. In the present investigation, we have compared the effects of developmental temperatures on fecundity, hatchability, viability, and duration of development in five natural populations of Drosophila bipectinata along the latitudinal range. The clinal patterns for fecundity, as well as ovariole number, were observed which showed significant positive correlation (r=0.97). Similarly, hatchability and duration of development also revealed a positive correlation with latitude. Hence, suggesting the role of natural selection in maintaining the genetic divergence for life history traits along the north-south transect of the Indian Subcontinent.

Keywords: growth temperature, fecundity, hatchability, viability, duration of development, Drosophila

Procedia PDF Downloads 239

Authors: Sina Mahdavi

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Background and Objective: Multiple sclerosis (MS) is an inflammatory autoimmune disease of the CNS that affects the myelination process in the central nervous system (CNS). Complex interactions of various "environmental or infectious" factors may act as triggers in autoimmunity and disease progression. The association between viral infections, especially human endogenous retrovirus (HERV) and MS is one potential cause that is not well understood. This study aims to summarize the available data on HERV infection in MS disease progression. Materials and Methods: For this study, the keywords "Multiple sclerosis", "Human endogenous retrovirus", and "central nervous system" in the databases PubMed, Google Scholar, Sid, and MagIran between 2016 and 2022 were searched and 14 articles chosen, studied, and analyzed. Results: In the leptomeningeal cells of MS patients, a retrovirus-like element associated with reverse transcriptase (RT) activity called multiple sclerosis-associated retroviruses (MSRV) has been identified. HERVs are expressed in the human CNS despite mechanisms to suppress their expression. External factors, especially viral infections such as influenza virus, Epstein-Barr virus, and herpes simplex virus type 1, can activate HERV gene expression. The MSRV coat protein is activated by activating TLR4 at the brain surface, particularly in oligodendroglial progenitor cells and macrophages, leading to immune cascades followed by the downregulation of myelin protein expression. The HERV-K18 envelope gene (env) acts as a superantigen and induces inflammatory responses in patients with MS. Conclusion: There is a high expression of endogenous retroviruses during the course of MS, which indicates the relationship between HERV and MS, that this virus can play a role in the development of MS by creating an inflammatory state. Therefore, measures to modulate the expression of endogenous retroviruses may be effective in reducing inflammatory processes in demyelinated areas of MS patients.

Keywords: multiple sclerosis, human endogenous retrovirus, central nervous system, MSRV

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

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

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

Procedia PDF Downloads 67