Search results for: genetic aetiology

Authors: Jun Hong Lee

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Background: Alzheimer`s disease (AD) I: creases with age and is characterized by the premature progressive loss of neuronal cell. In contrast, cancer cells have inappropriate cell proliferation and resistance to cell death. Objective: We evaluated the association between cancer and AD and also examined the specific types of cancer. Patients and Methods/Material and Methods: This retrospective, nationwide, longitudinal study used National Health Insurance Service – Senior cohort (NHIS-Senior) 2002-2013, which was released by the KNHIS in 2016, comprising 550,000 random subjects who were selected from over than 60. The study included a cohort of 4,408 patients who were first diagnoses as AD between 2003 and 2005. To match each dementia patient, 19,150 subjects were selected from the database by Propensity Score Matching. Results: We enrolled 4,790 patients for analysis in this cohort and the prevalence of AD was higher in female (19.29%) than in male (17.71%). A higher prevalence of AD was observed in the 70-84 year age group and in the higher income status group. A total of 540 cancers occurred within the observation interval. Overall cancer was less frequent in those with AD (12.25%) than in the control (18.46%), with HR 0.704 (95% Confidence Intervals (CIs)=0.0.64-0.775, p-Value < 0.0001). Conclusion: Our data showed a decreased incidence of overall cancers in patients with AD similar to previous studies. Patients with AD had a significantly decreased risk of colon & rectum, lung and stomach cancer. This finding lower than but consistent with Western countries. We need further investigation of genetic evidence linking AD to cancer.

Keywords: Alzheimer, cancer, nationwide, longitudinal study

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Authors: Arati Inamdar, Siddharth Bhattacharyya, Kester Haye

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

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

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Authors: Mehdi Nasr-Esfahani, Leila Mohammad Bagheri, Ava Nasr-Esfahani

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Root and collar rot disease caused by Phytophthora capsici (Leonian) is one of the most serious diseases in pepper, Capsicum annuum L. In this study, a diverse collection of 37 commercial edible and ornamental pepper genotypes infected with P. capsici were investigated for biomass parameters and enzymatic activity of peroxidase or peroxide reductases (EC), superoxide dismutase (SOD), polyphenol oxidase (PPOs), catalase (CAT) and phenylalanine ammonia-lyase (PAL). Seven candidate DEG genes were also evaluated on resistant and susceptible pepper cultivars, through measuring product formation, using spectrophotometry and real-time polymerase chain reaction. All the five enzymes and seven defense-gene candidates were up-regulated in all inoculated pepper accessions to P. capsici. But, the enzymes and DEG genes were highly expressed in resistant cv. 19OrnP-PBI, 37ChillP-Paleo, and “23CherryP-Orsh". The expression level of enzymes were 1.5 to 5.6-fold higher in the resistant peppers, than the control non-inoculated genotypes. Also, the transcriptional levels of related candidate DEG genes were 3.16 to 5.90-fold higher in the resistant genotypes. There was a direct and high correlation coefficient between resistance, bio-mass parameters, enzymatic activity, and resistance gene expression. The related enzymes and candidate genes expressed herein will provide a basis for further gene cloning and functional verification studies, and also will aid in an understanding of the regulatory mechanism of pepper resistance to P. capsici.

Keywords: AP2/ERF, cDNA, enzymes, MIP gene, q-RTPCR, XLOC

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Authors: Rim Frikha, Nouha Bouayed, Afifa Sellami, Nozha Chakroun, Salima Daoud, Leila Keskes, Tarek Rebai

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Introduction: Recurrent pregnancy loss (RPL) defined as two or more pregnancy losses, is a serious clinical problem. Methylene-tetrahydro-folate-reductase (MTHFR) polymorphisms, commonly the variant C677T is recognized as an inherited thrombophilia which might affect embryonic development and pregnancy success and cause pregnancy complications as RPL. Material and Methods DNA was extracted from peripheral blood samples and PCR-RFLP was performed for the molecular diagnosis of the C677T MTHFR polymorphism among 70 patients (35 couples) with more than 2 fetal losses. Aims and Objective: The aim of this study is to determine the frequency of MTHFR C677T among Tunisian couples with RPL and to critically analyze the available literature on the importance of MTHFR polymorphism testing in the management of RPL. Result and comments: No C677T mutation was detected in the carriers of RPL. This result would be related to sample size and to different criteria (number of abortion), - The association between MTHFR polymorphisms and pregnancy complications has been reported but with controversial results. - A lack of evidence for MTHFR polymorphism testing previously recommended by ACMG (American College of Medical medicine). Our study highlights the importance of screening of MTHFR polymorphism since the real impact of such thrombotic molecular defect on the pregnancy outcome is evident. - Folic supplementation of these patients during pregnancy can prevent such complications and lead to a successful pregnancy outcome.

Keywords: methylenetetrahydrofolate reductase, C677T, recurrent pregnancy loss, genetic testing

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Authors: Zia Ullah, Muhammad Asim, Shi Sujuan, Rayyan Khan, Aaqib Shaheen, LIU Haobao

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The plant-specific auxin efflux proteins PIN-FORMED (PIN) have been well depicted in many plant species for their essential roles in regulating the transport of auxins in several phases of plant growth. Little is known about the various functions of the PIN family genes in the Nicotiana tabacum (N. tabacum) species during plant growth. To define the expression pattern of the NtPIN1a gene under abiotic stresses and hormone treatment, transgenic tobacco with promoterNtPIN1a::GUS construct was employed. Comprehensive computational analyses of the NtPIN1a promoter confirmed the existence of common core promoter elements including CAAT-box, TATA-box, hormone, and abiotic stress-responsive elements such as ABRE, P-box, MYC, MYB, ARE, and GC-motifs. The transgenic plants with the promoter of NtPIN1a displayed a promising expression of β-glucuronidase (GUS) in germinating seeds, root tips, shoot-apex, and developing leaves under optimal conditions. While the differential expression of GUS in moderate salt, drought, low potassium stresses, and externally high auxin level at two different time points, suggested NtPIN1a played a key role in growth processes and the plants’ response to abiotic stresses. This analysis provides a foundation for more in-depth discoveries of the biological functions of NtPIN1a in Nicotiana species and this promoter may be employed in genetic engineering of other crops for enhanced stress tolerance.

Keywords: tobacco, nicotiana tabacum, pin, promoter, GUS, abiotic stresses, auxin

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Authors: Ali Shirazi, Robert A. Taylor, Stephen D. White, Graham L. Morrison

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In this paper, a detailed simulation model of a solar-powered triple-effect LiBr–H₂O absorption chiller is developed to supply both cooling and heating demand of a large-scale building, aiming to reduce the fossil fuel consumption and greenhouse gas emissions in building sector. TRNSYS 17 is used to simulate the performance of the system over a typical year. A combined energetic-economic-environmental analysis is conducted to determine the system annual primary energy consumption and the total cost, which are considered as two conflicting objectives. A multi-objective optimization of the system is performed using a genetic algorithm to minimize these objectives simultaneously. The optimization results show that the final optimal design of the proposed plant has a solar fraction of 72% and leads to an annual primary energy saving of 0.69 GWh and annual CO₂ emissions reduction of ~166 tonnes, as compared to a conventional HVAC system. The economics of this design, however, is not appealing without public funding, which is often the case for many renewable energy systems. The results show that a good funding policy is required in order for these technologies to achieve satisfactory payback periods within the lifetime of the plant.

Keywords: economic, environmental, multi-objective optimization, solar air-conditioning, triple-effect absorption chiller

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Authors: Anuradha Chug, Sunali Gandhi

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Regression Testing is a very expensive and time-consuming process carried out to ensure the validity of modified software. Due to the availability of insufficient resources to re-execute all the test cases in time constrained environment, efforts are going on to generate test data automatically without human efforts. Many search based techniques have been proposed to generate efficient, effective as well as optimized test data, so that the overall cost of the software testing can be minimized. The generated test data should be able to uncover all potential lapses that exist in the software or product. Inspired from the natural behavior of bat for searching her food sources, current study employed a meta-heuristic, search-based bat algorithm for optimizing the test data on the basis certain parameters without compromising their effectiveness. Mathematical functions are also applied that can effectively filter out the redundant test data. As many as 50 Java programs are used to check the effectiveness of proposed test data generation and it has been found that 86% saving in testing efforts can be achieved using bat algorithm while covering 100% of the software code for testing. Bat algorithm was found to be more efficient in terms of simplicity and flexibility when the results were compared with another nature inspired algorithms such as Firefly Algorithm (FA), Hill Climbing Algorithm (HC) and Ant Colony Optimization (ACO). The output of this study would be useful to testers as they can achieve 100% path coverage for testing with minimum number of test cases.

Keywords: regression testing, test case selection, test case prioritization, genetic algorithm, bat algorithm

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Authors: Chia-Jung Li, Li-Te Lin, Kuan-Hao Tsui

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The study identifies SPP1 as a potential gene associated with ovarian aging, revealing a significant decline in its expression in aged ovaries. SPP1, also known as osteopontin (OPN), is a multifunctional glycoprotein involved with regulatory proteins and pro-inflammatory immune chemokines. However, its genetic links to ovarian aging have not been extensively explored. Spatial transcriptomic analyses were conducted on ovaries from young and aged female mice, along with a sample from a 73-year-old individual. Additionally, single-cell RNA sequencing analysis was performed to identify associations between SPP1 and key genes. The study focused on crucial genes, including ITGAV, ITGB1, CD44, MMP3, and FN1, with a particular emphasis on the correlation between SPP1 and ITGB1. The findings indicate a significant decline in SPP1 expression in aged ovaries, which was consistent in the 73-year-old sample. Single-cell RNA sequencing unveiled associations between SPP1 and key genes, emphasizing a strong co-expression correlation between SPP1 and ITGB1. While the study provides valuable insights, further research is necessary to understand the broader implications and potential applications of SPP1 in ovarian aging. Translating these findings to clinical settings requires careful consideration. The identification of SPP1 as a gene implicated in ovarian aging opens new avenues for advancing precision medicine and refining treatment strategies for conditions related to ovarian aging.

Keywords: SPP1, ovarian aging, spatial transcriptomic, single-cell RNA sequencing

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Authors: Rudzani Manafe, Ezekiel Green

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Brucella, has many different virulence factors that act as a causative agent of brucellosis, depending on the environment and other factors, some factors may play a role more than others during infection and as a result, play a role in becoming a causative agent for pathogenesis. Brucella melitensis and Brucella abortus are considered to be pathogenic to humans. The genetic regularity of nine potential causes of virulence of two Brucella species in Eastern Cape livestock have been examined. A hundred and twenty isolates obtained from Molecular Pathogenesis and Molecular Epidemiology Research Group (MPMERG) were used for this study. All isolates were grown on Brucella agar medium. Nine primer pairs were used for the detection of virB2, virB5, vceC, btpA, btpB, prpA, betB, bpe275, and bspB virulence factors using Polymerase chain reaction (PCR). Approximately 100% was observed for genes BecC and BetB from B. arbotus. While the lowest gene observed was PrpA at 4.6% from B. arbotus. BetB was detected in 34.7%, while virB2 and prpA (0%) were not detected in B. melitensis. The results from this research suggest that most isolates of Brucella have virulence-related genes associated with disease pathogenesis. Finally, our findings showed that Brucella strains in the Eastern Cape Province are extremely virulent as virulence characteristics exist in most strains investigated.

Keywords: putative virulence genes, brucella, polymerase chain reaction, milk

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Authors: Simin Khodabakhshi, Hossein Rassi

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Hyperlipidemia refers to any of several acquired or genetic disorders that result in a high level of lipids circulating in the blood. Helicobacter pylori infection is a contributing factor in the progression of hyperlipidemia with serum lipid changes. The aim of this study was to detect of Helicobacter pylori by PCR and serological methods in patients with hyperlipidemia. In this case-control study, 174 patients with hyperlipidemia and 174 healthy controls were studied. Also, demographics, physical and biochemical parameters were performed in all samples. The DNA extracted from blood specimens was amplified by H pylori cagA specific primers. The results show that H. pylori cagA positivity was detected in 79% of the hyperlipidemia and in 56% of the control group by ELISA test and 49% of the hyperlipidemia and in 24% of the control group by PCR test. Prevalence of H. pylori infection was significantly higher in hyperlipidemia as compared to controls. In addition, patients with hyperlipidemia had significantly higher values for triglyceride, total cholesterol, LDL-C, waist to hip ratio, body mass index, diastolic and systolic blood pressure and lower levels of HDL-C than control participants (all p < 0.0001). Our result detected the ELISA was a rapid and cost-effective detection and considering the high prevalence of cytotoxigenic H. pylori strains, cag A is suggested as a promising target for PCR and ELISA tests for detection of infection with toxigenic strains. In general, it can be concluded that molecular analysis of H. pylori cagA and clinical parameters are important in early detection of hyperlipidemia and atherosclerosis with H. pylori infection by PCR and ELISA tests.

Keywords: Helicobacter pylori, hyperlipidemia, PCR, ELISA

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Authors: Nutthawadee Jampanil, Kattareeya Kumthip, Niwat Maneekarn, Pattara Khamrin

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Rotavirus A is one of the leading causes of acute gastroenteritis in children younger than five years of age, especially in low-income countries in Africa and South Asia. Two live-attenuated oral rotavirus vaccines, Rotarix and RotaTeq, have been introduced into routine immunization programs in many countries and have proven highly effective in reducing the burden of rotavirus-associated morbidity and mortality. In Thailand, Rotarix and RotaTeq vaccines have been included in the national childhood immunization program since 2020. The objectives of this research are to conduct a molecular epidemiological study and to characterize rotavirus genotypes circulating in pediatric patients with acute diarrhea in Chiang Mai, Thailand, from 2020-2022 after the implementation of rotavirus vaccines. Out of 858 stool specimens, 26 (3.0%) were positive for rotavirus A. G3P[8] (23.0%) was detected as the most predominant genotype, followed by G1P[8] (19.2%), G8P[8] (19.2%), G9P[8] (15.3%), G2P[4] (7.7%), G1P[6] (3.9%), G9P[4] (3.9%), and G8P[X] (3.9%). In addition, the uncommon rotavirus strain G3P[23] (3.9%) was also detected in this study, and this G3P[23] strain displayed a genetic background similar to the porcine rotavirus. In conclusion, there was a dramatic change in the prevalence of rotavirus A infection and the diversity of rotavirus A genotypes in pediatric patients in Chiang Mai, Northern Thailand, in the rotavirus post-vaccination period. The finding obtained from this research contributes to a better understanding of rotavirus epidemiology after rotavirus vaccine introduction. Furthermore, the identification of unusual G and P genotype combination strains provides significant evidence for the potential interspecies transmission between human and animal rotaviruses.

Keywords: rotavirus, infectious disease, gastroenteritis, Thailand

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Authors: Saeed Rauf

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Purpose: Drought stress is a major production constraint in sunflowers and causes yield losses under tropical and subtropical environments having high evapo-tranpirational losses. Given the consequences, three trials were designed to evaluate drought-resistant sunflower hybrids. Research Methods: Field trials were conducted under a split-plot arrangement with 17 hybrids and two contrasting regimes at Sargodha, Pakistan and 7 hybrids at Karj, Iran. Water stress condition was simulated by holding water in a stress regime. Hybrids were also screened against five levels of osmotic-ally induced stress, i.e. 0-15%, under a completely randomized design with 3 replications. Findings: Hybrids H1 (C.112.× RH.344) and H3 (C.112.× RSIN.82) showed the highest seed yield ha-1 and early flowering at Karj Iran. Commercial hybrid had the highest CTD (18.2°C) followed by C112 × RH.344 (17.29 °C). Hybrid C.250 × R.SIN.82 had the highest seed yield (m-2), followed by C.112 × RH.365 and C.124 × RSIN.82 under both stress and non-stress regimes at Sargodha, Pakistan. Seedling trial results showed that 6 hybrids only germinated in 5 and 7.5% PEG-induced osmotic stress, respectively. H1 (C.112 × RH.344) and H2 (C.112 × RH.347) had the highest germination% at 5% and 7.5% osmotic stress (OS). Seedling vigor index (SVI) was the highest in H1 (C.112 × RH.344) hybrids at 5% OS, H2 had the highest SVI under 7.5% OS, followed by H3 (C112 × RH344) and H4 (C116 × RH344). Originality/Value: In view of above results, it was concluded that hybrid combination H1 had the highest seed yield under stress conditions in both environments. High seed yield may be due to its better germination and vigor index under stress conditions.

Keywords: climate change, CTD, genetic variability, osmotic stress

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Authors: Ibrahim Ilker Ozyigit, Fatih Tabanli, Sezin Adinir

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In this study, Ascochyta blight resistance was investigated in 34 registered chickpea varieties, which are widely planting in different regions of Turkey. For this aim, molecular marker techniques, such as STMS, RAPD and ISSR were used. Ta2, Ta146 and Ts54 primers were used for STMS, while UBC733 and UBC681 primers for RAPD, and UBC836 and UBC858 primers for ISSR. Ta2, Ts54 and Ta146 (STMS), and UBC733 (RAPD) primers demonstrated the distinctive feature for Ascochyta blight resistance. Ta2, Ts54 and Ta146 primers yielded the quite effective results in detection of resistant and sensitive varieties. Besides, UBC 733 primer distinguished all kinds of standard did not give any reliable results for other varieties since it demonstrated all as resistant. In addition, monomorphic bands were obtained from UBC681 (RAPD), and UBC836 and UBC858 (ISSR) primers, not demonstrating reliable results in detection of resistance against Ascochyta blight disease. Obtained results informed us about both disease resistance and genetic diversity in registered Turkish chickpea varieties. This project was funded through the Scientific Research Projects of Marmara University under Grant Number FEN-C-YLP-070617-0365 and The Scientific and Technological Research Council of Turkey (TUBITAK) under Grant Number 113O070.

Keywords: plant genetics, ISSR, RAPD, STMS

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Authors: Nkwa Agbor Etobi Arreneke

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A well-designed earthing/grounding system will not only provide an effective path for direct dissipation of faulty currents into the earth/soil, but also ensure the safety of personnels withing and around its immediate surrounding perimeter is free from the possibility of fatal electric shock. In order to achieve the latter, it is of paramount importance to ensuring that both the step and touch potentials are kept within the allowable tolerance set by standards IEEE Std-80-2000. In this article, the step and touch potentials of an earthing system are simulated and conformity verified using the Finite Element Method (FEM), and has been found to be 242.4V and 194.80V respectively. The effect of injection current position is also analyzed to observe its effect on a person within or in contact with any active part of the earthing system of the substation. The values obtained closely matches those of other published works which made using different numerical methods and/or simulations Genetic Algorithm (GA). This current study is aimed at throwing more light to the dangers of step and touch potential of earthing systems of substation and electrical facilities as a whole, and the need for further in-dept analysis of these parameters. Observations made on this current paper shows that, the position of contact with an energize earthing system is of paramount important in determining its effect on living organisms in contact with any energized part of the earthing systems.

Keywords: earthing/grounding systems, finite element method (fem), ground/earth resistance, safety, touch and step potentials, generic algorithm

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Authors: D. Zahraddeen, N. M. Lemu, P. P. Barje, I. S. R. Butswat

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This study was conducted to investigate some of the factors affecting the optimum reproductive capacity of the indigenous breeds of sheep in Nigeria. A total of 767 sheep of different breeds were investigated. The reproductive indices considered were birth/weaning weights, litter size, parity, mortality, reproductive problems/disorders, body condition score (BCS), as well as growth traits. The results showed that litter size, parity, and BCS had significant (p < 0.05) effects on birth/weaning weights, mortality rates and growth traits of the sheep breeds studied. Similarly, the rearing method/system significantly (p < 0.05) influenced other reproductive traits such as birth/weaning weights, mortality, growth performance of lambs. However, the major reproductive problems/disorders in the ewes were dystocia (30.94%), retained placenta (16.91%), mastitis (15.83), pregnancy toxaemia (11.51%), uterine prolapse (6.48%) and vaginal prolapse (3.24%). In the rams, the incidence of reproductive problems included cryptorchidism (1.08%), orchitis (2.87%) and scrotal dermatophilosis (1.79%), among others. This study concludes that the four breeds of sheep (Balami, Yankasa, Uda, and West African Dwarf sheep) and their crosses exhibited varied genetic make-up and potentials. However, the large number of sheep farmers practicing the extensive production system might be responsible for the low reproductive performance of this species in the country. It is, therefore, recommended that significant improvement could be achieved through enhanced management practices of these animals.

Keywords: sheep, breeds, reproduction, disorders

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Authors: Helen S. Ghali, Engy Serag, A. Samer Ezeldin

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In many countries, the construction industry relies heavily on outsourcing models in executing their projects and expanding their businesses to fit in the diverse market. Such extensive integration of subcontractors is becoming an influential factor in contractor’s cash flow management. Accordingly, subcontractors’ financial terms are important phenomena and pivotal components for the well-being of the contractor’s cash flow. The aim of this research is to study the contractor’s cash flow with respect to the owner and subcontractor’s payment management plans, considering variable advance payment, payment frequency, and lag and retention policies. The model is developed to provide contractors with a decision support tool that can assist in selecting the optimum subcontracting plan to minimize the contractor’s financing limits and optimize the profit values. The model is built using Microsoft Excel VBA coding, and the genetic algorithm is utilized as the optimization tool. Three objective functions are investigated, which are minimizing the highest negative overdraft value, minimizing the net present worth of overdraft, and maximizing the project net profit. The model is validated on a full-scale project which includes both self-performed and subcontracted work packages. The results show potential outputs in optimizing the contractor’s negative cash flow values and, in the meantime, assisting contractors in selecting suitable subcontractors to achieve the objective function.

Keywords: cash flow optimization, payment plan, procurement management, subcontracting plan

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Authors: Rachel Thomas Tharmabalan

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The growing unease over the matter of food security in the world is the result of a maturing realization that the genetic base of most human caloric intake from plants is dangerously narrow. Malaysia’s tropical rainforests have the potential to contribute to diet diversification and provide a source of nutrient-rich food as the Orang Asli communities in Malaysia have relied almost entirely on the jungle for food, fodder, medicine and fuel antithetical to what is happening today. This segregation of the Orang Asli from traditional lands and resources leads to severe loss of knowledge of biodiversity. In order to preserve these wild edibles, four different types of vegetables that are frequently consumed by the Orang Asli which consists of Rebu, Meranti, Saya and Pama were selected. These vegetables were then analysed to determine its proximate and mineral content to help ascertain claims and reaffirm the impact it can play in ensuring food and nutrition security, in addition to combating chronic diseases. From the results obtained, the Meranti had the highest crude fiber, iron and calcium content. Other minerals such as potassium, magnesium and copper were also found in varying content. These wild edibles could also contribute to education and bring awareness to younger generations as well as urban populations to start consuming more of these in their daily life as it could prevent various chronic diseases in Malaysia.

Keywords: food and nutrition security, Orang Asli, underutilized plants, wild edible food systems

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Authors: Riksa Parikrama, Bremmy Laksono, Dadang S. H. Effendi

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Disorder of sexual development (DSD) covers various conditions with a specific term such as Klinefelter syndrome, Turner syndrome, androgen insensitivity syndrome, and many more. The techniques to accurately diagnose those conditions has developed extensively. However, conventional karyotype and fluorescence in situ hybridization (FISH) are still widely used in many genetic laboratories as the basic method to determine chromosomal condition of DSD patients. Cytogenetic study was conducted on 36 DSD patients in Cell Culture and Cytogenetics Laboratory, Faculty of Medicine Universitas Padjadjaran, Indonesia. Most of the patients referred to the laboratory diagnosed with primary amenorrhea, hypospadias, micropenis, genitalia ambiguity, or congenital adrenal hyperplasia. The study used G-banding technique to acquire complete karyotype and followed by FISH as either confirmation or comparison method. Among 36 patients, G-banding karyotype and FISH results showed that two were diagnosed with 45, X (Turner syndrome); three with 47, XXY (Klinefelter syndrome); five with 46, XX DSD; 22 with 46, XY DSD; and four with 46,XY complete androgen insensitivity syndrome. G-banding karyotype analysis were paired with FISH using X and Y chromosome probe produced similar results. The present analysis showed that FISH is a reliable method to attain a rapid and accurate chromosome analysis result of DSD patients. Nevertheless, conventional karyotype technique is still vital if other condition appeared in DSD patients in order to get more detailed karyotype result which FISH method cannot achieve.

Keywords: chromosome, DSD, FISH, karyotype

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Authors: Shirin jalili, Hadi Shirzad, Samaneh Nabavi, Somayeh Khanjani

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Biosensors in forensic analysis are ideal biological tools that can be used for rapid and sensitive initial screening and testing to detect of suspicious components like biological and chemical agent in crime scenes. The wide use of different biomolecules such as proteins, nucleic acids, microorganisms, antibodies and enzymes makes it possible. These biosensors have great advantages such as rapidity, little sample manipulation and high sensitivity, also Because of their stability, specificity and low cost they have become a very important tool to Forensic analysis and detection of crime. In crime scenes different substances such as rape samples, Semen, saliva fingerprints and blood samples, act as a detecting elements for biosensors. On the other hand, successful fluid recovery via biosensor has the propensity to yield a highly valuable source of genetic material, which is important in finding the suspect. Although current biological fluid testing techniques are impaired for identification of body fluids. But these methods have disadvantages. For example if they are to be used simultaneously, Often give false positive result. These limitations can negatively result the output of a case through missed or misinterpreted evidence. The use of biosensor enable criminal researchers the highly sensitive and non-destructive detection of biological fluid through interaction with several fluid-endogenous and other biological and chemical contamination at the crime scene. For this reason, using of the biosensors for detecting the biological fluid found at the crime scenes which play an important role in identifying the suspect and solving the criminal.

Keywords: biosensors, forensic analysis, biological fluid, crime detection

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Authors: Agajie Likie Bogale, Tilahun Teklehaymanot, Getnet Mitike Kassie, Girmay Medhin, Jemal Haidar Ali, Nega Berhe Belay

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Objectives: The aim of this study is to evaluate the performance of visual inspection using acetic acid compared with HPV DNA testing among women living with HIV in Ethiopia. Methods: Acomparative cross-sectional study was conducted to address the aforementioned objective. Data were collected from January to October 2021 to compare the performance of these two screening modalities. Trained clinicians collected cervical specimens and immediately applied acetic acid for visual inspection. The HPV DNA testing was done using Abbott m2000rt/SP by trained laboratory professionals in accredited laboratories. A total of 578 HIV positive women with age 25-49 years were included. Results: Test positivity was 8.9% using VIA and 23.3% using HPV DNA test. The sensitivity and specificity of the VIA test were 19.2% and 95.1%, respectively, while the positive and negative predictive values of the VIA test were 54.4% and 79.4%, respectively. The strength of agreement between the two screening methods was poor (k=0.184), and the area under the curve was 0.572. The burden of genetic distribution of high risk HPV16 was 3.8%, and mixed HPV16& other HR HPV was 1.9%. Other high risk HPV types were predominant in this study (15.7%). Conclusion: The high positivity result using HPV DNA testing compared with VIA, and low sensitivity of VIA are indicating that the implementation of HPV DNA testing as the primary screening strategy is likely to reduce cervical cancer cases and deaths of women in the country.

Keywords: cervical cancer screening, HPV DNA, VIA, Ethiopia

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Authors: Dipanshu Sur, Ratnabali Chakravorty

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Background: Striae result from rapid expansion of the underlying tissue, e.g. during puberty, pregnancy or rapid weight gain. Prior data indicate that the incidence of stretch marks in Indian women is 77%.The hormonal and genetic factors are associated with their appearance. Recently that has been found skin extensibility, elasticity and rupture were strongly influenced by the water content of dermis and epidermis cells. Objective: The objectives were to assess the effects of topical treatments applied during pregnancy on the later development of stretch marks. Materials and methods: An open, prospective, randomized study was done on 120 pregnant women in whom skin elasticity and hydration as well as striae presence or apparition were measured at baseline and periodically until delivery. Patients were randomly assigned to application in wet skin cream, or in dry skin conditions. Results: The average basal hydration was 42 ±13 IU and the final was 46 ± 6 IU (P = 0.0325; 95% CI: -7.66 to -0.34), which difference was statistically significant. By measuring the moisture in the control region (forearm) a basal reading of 40 ± 9 IU and end of study of 38 ± 6; (p = 0.1547; 95% CI: -0.77 to 4.77) and this difference was considered to be not statistically significant. It was observed that at the end of the study, 55% women without ridges; mild ridges 5%; 36% moderate, and 4%, severe ridges. The proportion of women without grooves was 54% when the cream was applied studied wet skin and 45% when the cream was applied on dry skin. Conclusion: It was shown that cream under study increased hydration and elasticity of abdominal skin consequently in all subjects. This effect is more significant (54%) when the cream is applied to damp skin.

Keywords: striae gravidarum, skin moisturizer, skin hydration, skin elasticity

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Authors: Farhad Nouparast

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For more production we need more capital formation. Capital formation in each country should be based on comparative advantages in different economic sectors due to the different production possibility curves. In regional planning, recognizing the relative advantages and consequently investing in more production requires identifying areas with the necessary capabilities and location of each region compared to other regions. In this article, ranking of Iran's provinces is done according to the specific and given variables as the best investment position in agricultural activity. So we can provide the necessary background for investment analysis in different regions of the country to formulate national and regional planning and execute investment projects. It is used factor analysis technique and numerical taxonomy analysis to do this in thisarticle. At first, the provinces are homogenized and graded according to the variables using cross-sectional data obtained from the agricultural census and population and housing census of Iran as data matrix. The results show that which provinces have the most potential for capital formation in agronomy sub-sector. Taxonomy classifies organisms based on similar genetic traits in biology and botany. Numerical taxonomy using quantitative methods controls large amounts of information and get the number of samples and categories and take them based on inherent characteristics and differences indirectly accommodates. Numerical taxonomy is related to multivariate statistics.

Keywords: Capital Formation, Factor Analysis, Multivariate statistics, Numerical Taxonomy Analysis, Production, Ranking, Spatial Planning

Procedia PDF Downloads 140

Authors: Medina Muñoz Lina Rocio

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The purpose of this paper is to examine the debates related to the harmonization of intellectual property rights on plant material, the corporate governance of the seed market in Colombia and the political economy of seeds defended by indigenous communities. In recent years, the commodification of seeds through genetic engineering and political intellectual property, codified as a result of the implementation of the Free Trade Agreement with the United States, has come into conflict with the traditional production of seeds carried out by small farmers and indigenous populations. Agricultural and food practices. In order to understand the ontological dimension of conflicts over seeds, it is necessary to analyze the conceptions that indigenous communities have about good, which they consider a common element of their social organization and define them as sentient beings. Therefore, through a multiple approach, in which the intellectual property policy, the ecological aspects of seed production and the political ontology of indigenous communities are interwoven, I intend to present the discussions held by the actors involved and present the strategies of small producers to protect their interests. It demonstrates that communities have begun to organize social movements to protect such interests and have questioned the philosophy of GM corporate agriculture as a pro-life movement. Finally, it is argued that the conservation of 'traditional' seeds of the communities is an effective strategy to support their struggles for territory, identity, food sovereignty and self-determination.

Keywords: intellectual property rights, intellectual property, traditional knowledge, food safety

Procedia PDF Downloads 76

Authors: Enock E. Goler, Emmanuel H. Kwon-Ndung, Gbenga F. Akomolafe, Terna T. Paul, Markus Musa, Joshua I. Waya, James H. Okogbaa

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An ethno-medicinal survey of plants used in treating various diseases and ailments was carried out in the study area of Nasarawa State, North Central Nigeria to obtain information on their uses and potentials. The ethno-medicinal survey was administered through structured questionnaires among local inhabitants from areas with high plant density and diversity within the various Local Government Areas of the State. A total of 84 (Eighty four) plant species belonging to 45 (Forty five) families were found to be useful in treatment of various ailments such as diabetes, measles, fever, asthma, jaundice, pneumonia, sexually transmitted diseases (STDs), aches, diarrhea, cough, arthritis, yellow fever, typhoid, erectile dysfunction and excessive bleeding. Different parts of the plant such as the roots, leaves and stems are used in preparing herbal remedies which could be from dry or freshly collected plants. The main methods of preparation are decoction or infusion, while in some cases the plant parts used are consumed directly. Residents in the study areas find the herbal remedy cheaper and more accessible and claimed that there are no side effects compared to orthodox medicine. This study has confirmed the need towards the conscious conservation of plant genetic resources in order to ensure sustained access to these ethno-medicinal plant materials.

Keywords: ethno-medicinal, Nasarawa, plants, survey

Procedia PDF Downloads 284

Authors: Diana A. Pazmino, Lynne vanHerwerden, Colin A. Simpfendorfer, Claudia Junge, Stephen C. Donnellan, Mauricio Hoyos-Padilla, Clinton A. J. Duffy, Charlie Huveneers, Bronwyn Gillanders, Paul A. Butcher, Gregory E. Maes

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With just a handful of documented cases of hybridisation in cartilaginous fishes, shark hybridisation remains poorly investigated. Small amounts of admixture have been detected between Galapagos (Carcharhinus galapagensis) and dusky (Carcharhinus obscurus) sharks previously, generating a hypothesis of ongoing hybridisation. We sampled a large number of individuals from areas where both species co-occur (contact zones) across the Pacific Ocean and used both mitochondrial and nuclear-encoded SNPs to examine genetic admixture and introgression between the two species. Using empirical, analytical approaches and simulations, we first developed a set of 1,873 highly informative and reliable diagnostic SNPs for these two species to evaluate the degree of admixture between them. Overall, results indicate a high discriminatory power of nuclear SNPs (FST=0.47, p < 0.05) between the two species, unlike mitochondrial DNA (ΦST = 0.00 p > 0.05), which failed to differentiate between these species. We identified four hybrid individuals (~1%) and detected bi-directional introgression between C. galapagensis and C. obscurus in the Gulf of California along the eastern Pacific coast of the Americas. We emphasize the importance of including a combination of mtDNA and diagnostic nuclear markers to properly assess species identification, detect patterns of hybridisation, and better inform management and conservation of these sharks, especially given the morphological similarities within the genus Carcharhinus.

Keywords: elasmobranchs, single nucleotide polymorphisms, hybridisation, introgression, misidentification

Procedia PDF Downloads 194

Authors: Feijoo E. Colomine Duran, Carlos E. Peñaloza Corredor

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There modeling component selection financial investment (Portfolio) a variety of problems that can be addressed with optimization techniques under evolutionary schemes. For his feature, the problem of selection of investment components of a dichotomous relationship between two elements that are opposed: The Portfolio Performance and Risk presented by choosing it. This relationship was modeled by Markowitz through a media problem (Performance) - variance (risk), ie must Maximize Performance and Minimize Risk. This research included the study and implementation of multi-objective evolutionary techniques to solve these problems, taking as experimental framework financial market equities Colombia Stock Exchange between 2009-2015. Comparisons three multiobjective evolutionary algorithms, namely the Nondominated Sorting Genetic Algorithm II (NSGA-II), the Strength Pareto Evolutionary Algorithm 2 (SPEA2) and Indicator-Based Selection in Multiobjective Search (IBEA) were performed using two measures well known performance: The Hypervolume indicator and R_2 indicator, also it became a nonparametric statistical analysis and the Wilcoxon rank-sum test. The comparative analysis also includes an evaluation of the financial efficiency of the investment portfolio chosen by the implementation of various algorithms through the Sharpe ratio. It is shown that the portfolio provided by the implementation of the algorithms mentioned above is very well located between the different stock indices provided by the Colombia Stock Exchange.

Keywords: finance, optimization, portfolio, Markowitz, evolutionary algorithms

Procedia PDF Downloads 302

Authors: M. O. Oke, T. S. Workneh

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Drying behaviour of blanched sweet potato in a cabinet dryer using different five air temperatures (40-80oC) and ten sweet potato varieties sliced to 5 mm thickness were investigated. The drying data were fitted to eight models. The Modified Henderson and Pabis model gave the best fit to the experimental moisture ratio data obtained during the drying of all the varieties while Newton (Lewis) and Wang and Singh models gave the least fit. The values of Deff obtained for Bophelo variety (1.27 x 10-9 to 1.77 x 10-9 m2/s) was the least while that of S191 (1.93 x 10-9 to 2.47 x 10-9 m2/s) was the highest which indicates that moisture diffusivity in sweet potato is affected by the genetic factor. Activation energy values ranged from 0.27-6.54 kJ/mol. The lower activation energy indicates that drying of sweet potato slices requires less energy and is hence a cost and energy saving method. The drying behavior of blanched sweet potato was investigated in a cabinet dryer. Drying time decreased considerably with increase in hot air temperature. Out of the eight models fitted, the Modified Henderson and Pabis model gave the best fit to the experimental moisture ratio data on all the varieties while Newton, Wang and Singh models gave the least. The lower activation energy (0.27-6.54 kJ/mol) obtained indicates that drying of sweet potato slices requires less energy and is hence a cost and energy saving method.

Keywords: sweet potato slice, drying models, moisture ratio, moisture diffusivity, activation energy

Procedia PDF Downloads 517

Authors: Vahid Changizi, Aram Rostami, Akbar Mosavi

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Purpose of study: Critical macromolecules of cells such as DNA are in exposure to damage of free radicals that induced from interaction of ionizing radiation with biological systems. Selenium and vitamin-E are natural compound that has been shown to be a direct free radical scavenger. The aim of this study was to investigate the in vivo/in vitro radioprotective effect of selenium and vitamin-E separately and synergistically against genotoxicity induced by 6MV x-rays irradiation in cultured blood lymphocytes from 15 human volunteers. Methods: Fifteen volunteers were divided in three groups include A, B and C. These groups were given slenium(800 IU), vitamin-E(100 mg) and selenium(400 IU) + vitamin-E(50 mg), respectively. Peripheral blood samples were collected from each group before(0 hr) and 1, 2 and 3 hr after selenium and vitamin-E administration (separately and synergistically). Then the blood samples were irradiated to 200 cGy of 6 Mv x-rays. After that, lymphocyte samples were cultured with mitogenic stimulation to determine the chromosomal aberrations wih micronucleus assay in cytokinesis-blocked binucleated cells. Results: The lymphocytes in the blood samples collected at 1 hr after ingestion selenium and vitamin-E, exposed in vitro to x-rays exhibited a significant decrease in the incidence of micronuclei, compared with control group at 0 hr. The maximum protection and decrease in frequency of micronuclei(50%) was observed at 1 hr after administration of selenium and vitamin-E synergistically. Conclusion: The data suggest that ingestion of selenium and vitamin-E as a radioprotector substances before exposures may reduce genetic damage caused by x-rays irradiation.

Keywords: x-rays, selenium, vitamin-e, lymphocyte, micronuclei

Procedia PDF Downloads 267

Authors: Niloofar Fariborzi, Hamzeh Alipour, Kourosh Azizi, Neda Eskandarzade, Abozar Ghorbani

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The family Parvoviridae consists of a large diversity of single-stranded DNA viruses, which cause mild to severe diseases in both vertebrates and invertebrates. The Parvoviridae are classified into three subfamilies: Parvovirinae infect vertebrates, Densovirinae infects invertebrates, while Hamaparovirinae infects both vertebrates and invertebrates. Except for the NS1 region, which is the prime criterion for phylogeny analysis, other parts of the parvoviruses genome, such as UTRs, are diverse even among closely related viruses or within the same genus. It is believed that host switching in parvoviruses may be related to genetic changes in regions other than NS1; therefore, whole-genome screening is valuable for studying parvoviruses' host-virus interactions. The aim of this study was to analyze genome organization and phylogeny of the complete genome sequence of the 132 Paroviridae family members, focusing on viruses that infect invertebrates. The maximum and minimum divergence within each subfamily belonged to Densovirinae and Parvovirinae, respectively. The greatest evolutionary divergence was between Hamaparovirinae and Parvovirinae. Unclassified viruses were mostly from Parovirinae and had the highest divergence to densoviruses and the lowest divergence to Parovirinae viruses. In a phylogenetic tree, all hamparoviruses were found in the center of densoviruses, with the exception of Syngnathid Ichthamaparvovirus 1 (NC_055527), which was positioned between two Parvovirinae members (NC _022089 and NC_038544). The proximity of hamparoviruses members to some densoviruses strengthens the possibility that densoviruses may be the ancestors of hamaparoviruses or vice versa. Therefore, examination and phylogeny analysis of the whole genome is necessary to understand Parvoviridae family host selection.

Keywords: densoviruses, parvoviridae, bioinformatics, phylogeny

Procedia PDF Downloads 93

Authors: Jihye Hwang, Eun Hwa Choi, Su Youn Baek, Bia Park, Gyeongmin Kim, Chorong Shin, Joon Ha Lee, Jae-Sam Hwang, Ui Wook Hwang

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White-spotted flower chafers are widely distributed in Asian countries and traditionally used for the treatment of chronic fatigue, blood circulation, and paralysis in the oriental medicine field. The evolution and development of insect wings and metamorphosis remain under-discovered subjects in arthropod evolutionary researches. Gene expression abundance analyses along with developmental stages based on the large-scale RNA-seq data are also still rarely done. Here we report the de novo assembly of a Protestia brevitarsis seulensis transcriptome along four different developmental stages (egg, larva, pupa, and adult) to explore its development and evolution of wings and metamorphosis. The de novo transcriptome assembly consists of 23,551 high-quality transcripts and is approximately 96.7% complete. Out of 8,545 transcripts, 5,183 correspond to the possible orthologs with Drosophila melanogaster. As a result, we could found 265 genes related to wing development and 19 genes related to metamorphosis. The comparison of transcript expression abundance with different developmental stages revealed developmental stage-specific transcripts especially working at the stage of wing development and metamorphosis of P. b. seulensis. This transcriptome quantification along the developmental stages may provide some meaningful clues to elucidate the genetic modulation mechanism of wing development and metamorphosis obtained during the insect evolution.

Keywords: white-spotted flower chafers, transcriptomics, RNA-seq, network biology, wing development, metamorphosis

Procedia PDF Downloads 229