Search results for: genetic determinant

Authors: A. S. Vidyashree, C. M. Kalleshwaraswamy, R. Asokan, H. M. Mahadevaswamy

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Termites are very vital ecological thespians in tropical ecosystem, having been designated as “ecosystem engineers”, due to their significant role in providing soil ecosystem services. Despite their importance, our understanding of a number of their basic biological processes in termites is extremely limited. Developing a better understanding of termite biology is closely dependent upon consistent species identification. At present, identification of termites is relied on soldier castes. But for many species, soldier caste is not reported, that creates confusion in identification. The use of molecular markers may be helpful in estimating phylogenetic relatedness between the termite species and estimating genetic differentiation among local populations within each species. To understand this, termites samples were collected from various places of Western Ghats covering four states namely Karnataka, Kerala, Tamil Nadu, Maharashtra during 2013-15. Termite samples were identified based on their morphological characteristics, molecular characteristics, or both. Survey on the termite fauna in Karnataka, Kerala, Maharashtra and Tamil Nadu indicated the presence of a 16 species belongs to 4 subfamilies under two families viz., Rhinotermitidae and Termitidae. Termititidae was the dominant family which was belonging to 4 genera and four subfamilies viz., Macrotermitinae, Amitermitinae, Nasutitermitinae and Termitinae. Amitermitinae had three species namely, Microcerotermes fletcheri, M. pakistanicus and Speculitermes sinhalensis. Macrotermitinae had the highest number of species belonging two genera, namely Microtermes and Odontotermes. Microtermes genus was with only one species i.e., Microtermes obesi. The genus Odontotermes was represented by the highest number of species (07), namely, O. obesus was the dominant (41 per cent) and the most widely distributed species in Karnataka, Karala, Maharashtra and Tamil nadu followed by O. feae (19 per cent), O.assmuthi (11 per cent) and others like O. bellahunisensis O. horni O. redemanni, O. yadevi. Nasutitermitinae was represented by two genera namely Nasutitermes anamalaiensis and Trinervitermes biformis. Termitinae subfamily was represented by Labiocapritermes distortus. Rhinotermitidae was represented by single subfamily Heterotermetinae. In Heterotermetinae, two species namely Heterotermes balwanthi and H. malabaricus were recorded. Genetic relationship among termites collected from various locations of Western Ghats of India was characterized based on mitochondrial DNA sequences (12S, 16S, and COII). Sequence analysis and divergence among the species was assessed. These results suggest that the use of both molecular and morphological approaches is crucial in ensuring accurate species identification. Efforts were made to understand their evolution and to address the ambiguities in morphological taxonomy. The implication of the study in revising the taxonomy of Indian termites, their characterization and molecular comparisons between the sequences are discussed.

Keywords: isoptera, mitochondrial DNA sequences, rhinotermitidae, termitidae, Western ghats

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Authors: Durhane Wong-Rieger, Kawaldip Sehmi, Nicola Bedlington, Nicole Boice, Tamás Bereczky

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Patient-generated health data should be seen as the expression of the experience of patients, including the outcomes reflecting the impact a treatment or service had on their physical health and wellness. We discuss how the healthcare system can reach a place where digital is a determinant of health - where data is generated by patients and is respected and which acknowledges their contribution to science. We explore the biggest barriers facing this. The International Experience Exchange with Patient Organisation’s Position Paper is based on a global patient survey conducted in Q3 2021 that received 304 responses. Results were discussed and validated by the 15 patient experts and supplemented with literature research. Results are a subset of this. Our research showed patient communities want to influence how their data is generated, shared, and used. Our study concludes that a reasonable framework is needed to protect the integrity of patient data and minimise abuse, and build trust. Results also demonstrated a need for patient communities to have more influence and control over how health data is generated, shared, and used. The results clearly highlight that the community feels there is a lack of clear policies on sharing data.

Keywords: digital health, equitable access, humanise healthcare, patient data

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Authors: Daina Jonkus, Solvita Petrovska, Dace Smiltina, Lasma Cielava

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The beta-lactoglobulin and kappa-casein are milk proteins which are important for milk composition. Cows with beta-lactoglobulin and kappa-casein gene BB genotypes have highest milk crude protein and fat content. The aim of the study was to determinate the frequencies of milk protein gene polymorphisms in local Latvian Brown (LB) cows breed and analyze the influence of beta-lactoglobulin and kappa-casein genotypes to milk productivity traits. 102 cows’ genotypes of milk protein genes were detected using Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) and electrophoresis on 3% agarose gel. For beta-lactoglobulin were observed 2 types of alleles A and B and for kappa-casein 3 types: A, B and E. Highest frequency in beta-lactoglobulin gene was observed for B allele – 0.926. Molecular analysis of beta-lactoglobulin gene shows 86.3% of individuals are homozygous by B allele and animals are with genotypes BB and 12.7% of individuals are heterozygous with genotypes AB. The highest milk yield 4711.7 kg was for 1st lactation cows with AB genotypes, whereas the highest milk protein content (3.35%) and fat content (4.46 %) was for BB genotypes. Analysis of the kappa-casein locus showed a prevalence of the A allele – 0.750. The genetic variant of B was characterized by a low frequency – 0.240. Moreover, the frequency of E occurred in the LB cows’ population with very low frequency – 0.010. 54.9 % of cows are homozygous with genotypes AA, and only 4.9 % are homozygous with genotypes BB. 32.8 % of individuals are heterozygous with genotypes AB, and 2.0 % are with AE. The highest milk productivity was for 1st lactation cows with AB genotypes: milk yield 4620.3 kg, milk protein content 3.39% and fat content 4.53 %. According to the results, in local Latvian brown there are only 2.9% of cows are with BB-BB genotypes, which is related to milk coagulation ability and affected cheese production yield. Acknowledgment: the investigation is supported by VPP 2014-2017 AgroBioRes Project No. 3 LIVESTOCK.

Keywords: beta-lactoglobulin, cows, genotype frequencies, kappa-casein

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Authors: Oktia Woro Kasmini Handayani, Sri Ratna Rahayu, Efa Nugroho, Berta Kalswahermawati

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Diabetes occurs 10 years faster in the Southeast Asian region than the European region, which occurs in the most productive periods. Cultural differences as well as cultural transitions can be determinant factors of health cases in urban and rural areas. The purpose of this research is to analyze the effect of the cultural environment, behavior and the occurrence of diabetes mellitus in urban areas of Semarang, Indonesia. The research was conducted in the area of Semarang Regency, using a quantitative approach and supported by qualitative data, the population is DM type 2 patients, sample size of 200 people, with a purposive sampling technique. The independent variable consists of cultural environment, behavior, and the dependent variable is DM. The data is analyzed with regression test method. Cultural environment affects behavior positively, with t value of 4,690 and p (sig.) 0.000, this means sig <0.05, while the effect of behavior on Diabetes Mellitus obtained t value 2.950 with p-value (sig.) 0.003 this means that sig <0.05, thus it can be interpreted that the behavior has a significant effect on Diabetes Mellitus. The cultural environment directly affects the incidence of DM. It can also shape a person's behavior or lifestyle or habit, whether healthy or unhealthy one, which in turn causes symptoms of DM.

Keywords: Behavior, Cultural Environment, Diebetes Millitus, Urban

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Authors: Sandra Smieszek, Jonathan Haines

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Introduction: Numerous research efforts have focused on searching for ‘longevity genes’. However, attempting to decipher the genetic component of the longevous phenotype have resulted in limited success and the mechanisms governing longevity remain to be explained. We conducted a genome-wide homozygosity analysis (GWHA) of the founder population of the Amish community in central Ohio. While genome-wide association studies using unrelated individuals have revealed many interesting longevity associated variants, these variants are typically of small effect and cannot explain the observed patterns of heritability for this complex trait. The Amish provide a large cohort of extended kinships allowing for in depth analysis via family-based approach excellent population due to its. Heritability of longevity increases with age with significant genetic contribution being seen in individuals living beyond 60 years of age. In our present analysis we show that the heritability of longevity is estimated to be increasing with age particularly on the paternal side. Methods: The present analysis integrated both phenotypic and genotypic data and led to the discovery of a series of variants, distinct for stratified populations across ages and distinct for paternal and maternal cohorts. Specifically 5437 subjects were analyzed and a subset of 893 successfully genotyped individuals was used to assess CHIP heritability. We have conducted the homozygosity analysis to examine if homozygosity is associated with increased risk of living beyond 90. We analyzed AMISH cohort genotyped for 614,957 SNPs. Results: We delineated 10 significant regions of homozygosity (ROH) specific for the age group of interest (>90). Of particular interest was ROH on chromosome 13, P < 0.0001. The lead SNPs rs7318486 and rs9645914 point to COL4A2 and our lead SNP. COL25A1 encodes one of the six subunits of type IV collagen, the C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. COL4A2 mutations have been reported with a broader spectrum of cerebrovascular, renal, ophthalmological, cardiac, and muscular abnormalities. The second region of interest points to IRS2. Furthermore we built a classifier using the obtained SNPs from the significant ROH region with 0.945 AUC giving ability to discriminate between those living beyond to 90 years of age and beyond. Conclusion: In conclusion our results suggest that a history of longevity does indeed contribute to increasing the odds of individual longevity. Preliminary results are consistent with conjecture that heritability of longevity is substantial when we start looking at oldest fifth and smaller percentiles of survival specifically in males. We will validate all the candidate variants in independent cohorts of centenarians, to test whether they are robustly associated with human longevity. The identified regions of interest via ROH analysis could be of profound importance for the understanding of genetic underpinnings of longevity.

Keywords: regions of homozygosity, longevity, SNP, Amish

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Authors: Sima Parvizi Omran, Rezvan Tavakoli, Mahnaz Safari, Mohammadreza Aghasadeghi, Abolfazl Fateh, Pooneh Rahimi

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Background: SARS-CoV-2, a single-stranded RNA betacoronavirus causes the global outbreak of coronavirus disease 2019 (COVID-19). Several clinical and scientific concerns are raised by this pandemic. Genetic factors can contribute to pathogenesis and disease susceptibility. There are single nucleotide polymorphisms (SNPs) in many of the genes in the immune system that affect the expression of specific genes or functions of some proteins related to immune responses against viral infections. In this study, we analyzed the impact of polymorphism in the interferon alpha and beta receptor subunit 2 (IFNAR2) and dipeptidyl peptidase 9 (Dpp9) genes and clinical parameters on the susceptibility and resistance to Coronavirus disease (COVID-19). Methods: A total of 330- SARS-CoV-2 positive patients (188 survivors and 142 nonsurvivors) were included in this study. All single-nucleotide polymorphisms (SNPs) on IFNAR2 (rs2236757) and Dpp9 (rs2109069) were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: In survivor patients, the frequency of the favourable genotypes of IFNAR2 SNP (rs2236757 GC) was significantly higher than in nonsurvivor patients, and also Dpp9 (rs2109069 AT) genotypes were associated with the severity of COVID-19 infection. Conclusions: This study demonstrated that the severity of COVID- 19 patients was strongly associated with clinical parameters and unfavourable IFNAR2, Dpp9 SNP genotypes. In order to establish the relationship between host genetic factors and the severity of COVID-19 infection, further studies are needed in multiple parts of the world.

Keywords: SARS-CoV-2, COVID-19, interferon alpha and beta receptor subunit 2, dipeptidyl peptidase 9, single-nucleotide polymorphisms

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Authors: Valbona Sota, Efigjeni Kongjika

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Wild almond is a woody species, which is difficult to propagate either generatively by seed or by vegetative methods (grafting or cuttings) and also considered as Endangered (EN) in Albania based on IUCN criteria. As a wild relative of cultivated fruit trees, this species represents a source of genetic variability and can be very important in breeding programs and cultivation. For this reason, it would be of interest to use an effective method of in vitro mid-term conservation, which involves strategies to slow plant growth through physicochemical alterations of in vitro growth conditions. Multiplication of wild almond was carried out using zygotic embryos, as primary explants, with the purpose to develop a successful propagation protocol. Results showed that zygotic embryos can proliferate through direct or indirect organogenesis. During subculture, stage was obtained a great number of new plantlets identical to mother plants derived from the zygotic embryos. All in vitro plantlets obtained from subcultures underwent in vitro conservation by minimal growth in low temperature (4ºC) and darkness. The efficiency of this technique was evaluated for 3, 6, and 10 months of conservation period. Maintenance in these conditions reduced micro cuttings growth. Survival and regeneration rates for each period were evaluated and resulted that the maximal time of conservation without subculture on 4ºC was 10 months, but survival and regeneration rates were significantly reduced, specifically 15.6% and 7.6%. An optimal period of conservation in these conditions can be considered the 5-6 months storage, which can lead to 60-50% of survival and regeneration rates. This protocol may be beneficial for mass propagation, mid-term conservation, and for genetic manipulation of wild almond.

Keywords: micropropagation, minimal growth, storage, wild almond

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Authors: Makhosi Buthelezi

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Mitochondrial DNA cytochrome c oxidase I (COI) gene analyses linked the South African groundnut leaf miner (GLM) to the Australian soya bean moth Aproaerema simplexella (Walker) and Indian Aproaerema modicella (Deventer). Thus, the genetic relatedness of GLM, A. simplexela, and A. modicella was examined by performing mitochondrial and nuclear (COI, cytochrome oxidase subunit II (COII), mitochondrial cytochrome b (CYTB), nuclear ribosomal 28S (28S) and intergenic spacer elongation factor-1 alpha ( EF-1 ALPHA) on 44 specimens collected from South Africa, four from Mozambique, and three each from single locations in India and Australia. Phylogenetic analyses were conducted using the Maximum Parsimony (MP) and Neighbour-Joining (NJ) methods. All of the datasets of the five DNA gene regions that were sequenced were also analyzed using the Basic Local Alignment Search Tool (BLAST) to find the closest matches for inclusion in the phylogenetic trees as outgroups and for purposes of information. In the phylogenetic trees for COI, COII, cytb and EF-1 ALPHA, a similar pattern was observed in the way that the sequences assembled into different groups; i.e., some sequences of A. simplexella from Australia were grouped separately from the others, but some Australian sequences grouped with those of the GLM from South Africa, India, and Mozambique. In the phylogenetic tree for 28S, all sequences from South Africa, Australia, India, and Mozambique grouped together and formed one group. For COI, genetic pairwise distance ranged from 0.97 to 3.60 %, for COII it ranged from 0.19% to 2.32%, for cytb it ranged from 0.25 to 9.77% and for EF-1 ALPHA it ranged 0.48 to 6.99%. Results of this study indicate that these populations are genetically related and presumably constitute a single species. Thus, further molecular and morphological studies need to be undertaken in order to resolve this apparent conundrum on the taxonomy of these populations.

Keywords: aproaerema modicella, aproaerema simplexella, mitochondrial DNA, nuclear DNA

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Authors: Galila Aisyah Latif Amini, Husnul Khatimah, Citra Amelia

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Smoking among women is of particular concern for the maternal and child health community due to the strong association between prenatal smoking and adverse birth outcomes. Pregnancy is perceived to be a unique reason for smoking cessation, as motivation to care for the unborn fetus. This study aimed to find out the determinants of smoking cessation among pregnant women. Method that we use in this study is systematic review. We identified relevant studies by searching on science database online through SAGE journals, Proquest, Scopus, Emerald, JSTOR, and Springerlink. Journals were screened by title and abstract according to the research topic then filtered using the criteria exclusion and inclusion. And then we did critical appraisal. The results of the four studies reviewed were found that the determinant of smoking cessation are parity, the level of education, socioeconomic status, household SHS exposure, smoking habits of both parents, partner smoking status, psychological factors, antenatal care, intervention for health care provider, age smoking duration. The factor most strongly associated with smoking cessation is parity (OR 2,55; Cl 2,34-2,77). The results of this study are expected to give advice for developing future smoking cessation and relapse prevention programs.

Keywords: pregnancy, smoking cessation, tobacco use cessation, smoking

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Authors: Willian C. De Brito, Hernan D. C. Munoz, Erlan V. C. Carvalho, Helder L. C. De Oliveira

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In order to improve commute time for small distance trips and relieve large cities traffic, a new transport category has been the subject of research and new designs worldwide. The air taxi travel market promises to change the way people live and commute by using the concept of vehicles with the ability to take-off and land vertically and to provide passenger’s transport equivalent to a car, with mobility within large cities and between cities. Today’s civil air transport remains costly and accounts for 2% of the man-made CO₂ emissions. Taking advantage of this scenario, many companies have developed their own Vertical Take Off and Landing (VTOL) design, seeking to meet comfort, safety, low cost and flight time requirements in a sustainable way. Thus, the use of green power supplies, especially batteries, and fully electric power plants is the most common choice for these arising aircrafts. However, it is still a challenge finding a feasible way to handle with the use of batteries rather than conventional petroleum-based fuels. The batteries are heavy and have an energy density still below from those of gasoline, diesel or kerosene. Therefore, despite all the clear advantages, all electric aircrafts (AEA) still have low flight autonomy and high operational cost, since the batteries must be recharged or replaced. In this sense, this paper addresses a way to optimize the energy consumption in a typical mission of an aerial taxi aircraft. The approach and landing procedure was chosen to be the subject of an optimization genetic algorithm, while final programming can be adapted for take-off and flight level changes as well. A real tilt rotor aircraft with fully electric power plant data was used to fit the derived dynamic equations of motion. Although a tilt rotor design is used as a proof of concept, it is possible to change the optimization to be applied for other design concepts, even those with independent motors for hover and cruise flight phases. For a given trajectory, the best set of control variables are calculated to provide the time history response for aircraft´s attitude, rotors RPM and thrust direction (or vertical and horizontal thrust, for independent motors designs) that, if followed, results in the minimum electric power consumption through that landing path. Safety, comfort and design constraints are assumed to give representativeness to the solution. Results are highly dependent on these constraints. For the tested cases, performance improvement ranged from 5 to 10% changing initial airspeed, altitude, flight path angle, and attitude.

Keywords: air taxi travel, all electric aircraft, batteries, energy consumption, genetic algorithm, landing performance, optimization, performance improvement, tilt rotor, VTOL design

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Authors: I. Boroňová, J. Bernasovská, J. Kmec, E. Petrejčíková

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Dilated cardiomyopathy (DCM) is a primary myocardial disease, it is characterized by progressive systolic dysfunction due to cardiac chamber dilatation and inefficient myocardial contractility with estimated prevalence of 37 in 100 000 people. It is the most frequent cause of heart failure and cardiac transplantation in young adults. About one-third of all patients have a suspected familial disease indicating a genetic basis of DCM. Many candidate gene studies in humans have tested the association of single nucleotide polymorphisms (SNPs) in various genes coding for proteins with a known cardiovascular function. In our study we present the results of ZBTB17 gene rs10927875 polymorphism genotyping in relation to dilated cardiomyopathy in Slovak population. The study included 78 individuals, 39 patients with DCM and 39 healthy control persons. The mean age of patients with DCM was 50.7±11.5 years; the mean age of individuals in control group was 51.3±9.8 years. Risk factors detected at baseline in each group included age, sex, body mass index, smoking status, diabetes and blood pressure. Genomic DNA was extracted from leukocytes by a standard methodology and screened for rs10927875 polymorphism in intron of ZBTB17 gene using Real-time PCR method (Step One Applied Biosystems). The distribution of investigated genotypes for rs10927875 polymorphism in the group of patients with DCM was as follows: CC (89.74%), CT (10.26%), TT (0%), and the distribution in the control group: CC (92.31%), CT (5.13%), and TT (2.56%). Using the chi-square (χ2) test we compared genotype and allele frequencies between patients and controls. There was no difference in genotype or allele frequencies in ZBTB17 gene rs10927875 polymorphism between patients and control group (χ2=3.028, p=0.220; χ2=0.264, p=0.608). Our results represent an initial study, it can be considered as preliminary and first of its kind in Slovak population. Further studies of ZBTB17 gene polymorphisms of more numerous files and additional functional investigations are needed to fully understand the role of genetic associations.

Keywords: dilated cardiomyopathy, SNP polymorphism, ZBTB17 gene, bioscience

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Authors: S. Fahiminiya, J. Nadaf, F. Rauch, L. Jerome-Majewska, J. Majewski

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Background: Sequencing of protein coding regions of human genome (Whole Exome Sequencing; WES), has demonstrated a great success in the identification of causal mutations for several rare genetic disorders in human. Generally, most of WES studies have focused on rare variants in coding exons and splicing-sites where missense substitutions lead to the alternation of protein product. Although focusing on this category of variants has revealed the mystery behind many inherited genetic diseases in recent years, a subset of them remained still inconclusive. Here, we present the result of our WES studies where analyzing only rare variants in coding regions was not conclusive but further investigation revealed the involvement of non-coding variants and copy number variations (CNV) in etiology of the diseases. Methods: Whole exome sequencing was performed using our standard protocols at Genome Quebec Innovation Center, Montreal, Canada. All bioinformatics analyses were done using in-house WES pipeline. Results: To date, we successfully identified several disease causing mutations within gene coding regions (e.g. SCARF2: Van den Ende-Gupta syndrome and SNAP29: 22q11.2 deletion syndrome) by using WES. In addition, we showed that variants in non-coding regions and CNV have also important value and should not be ignored and/or filtered out along the way of bioinformatics analysis on WES data. For instance, in patients with osteogenesis imperfecta type V and in patients with glucocorticoid deficiency, we identified variants in 5'UTR, resulting in the production of longer or truncating non-functional proteins. Furthermore, CNVs were identified as the main cause of the diseases in patients with metaphyseal dysplasia with maxillary hypoplasia and brachydactyly and in patients with osteogenesis imperfecta type VII. Conclusions: Our study highlights the importance of considering non-coding variants and CNVs during interpretation of WES data, as they can be the only cause of disease under investigation.

Keywords: whole exome sequencing data, non-coding variants, copy number variations, rare diseases

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Authors: Najla Kamergi

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In a world context of increasing interest in environmental issues, this paper investigates the effect of agri-environmental regulations heterogeneity on the volume of crop commodities’ exports using a theoretically justified gravity model of Anderson and van Wincoop (2003) for the 2003–2013 period. Our findings show that the difference in exporter and importer environmental regulations is more relevant to agricultural trade than trade agreements. In fact, the environmental gap between the two partners is decreasing slightly but significantly crop commodities’ exports according to our results. We also note that the sector of fruit and vegetables is more sensitive to this determinant, unlike cereals that remain relatively less affected. Furthermore, high-income countries have more tendency to trade with countries characterized by similar environmental stringency. Further results show that the BRICS are clearly importing from developed countries where the environmental difference is relatively important. It is likely that emerging countries are witnessing a growing demand for high-quality and “green” crop commodities captured by high-income exporters. Surprisingly, our results suggest that low and middle-income countries with the same level of environmental stringency are more likely to trade crop commodities.

Keywords: agricultural trade, environment, gravity model, food crops, agri-environmental efficiency, DEA

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Authors: Nahid Banihashemi

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An emerging important area of the life sciences is systems biology, which involves understanding the integrated behavior of large numbers of components interacting via non-linear reaction terms. A centrally important problem in this area is an understanding of the co-metabolism of protein and carbohydrate, as it has been clearly demonstrated that the ratio of these metabolites in diet is a major determinant of obesity and related chronic disease. In this regard, we have considered a systems biology model for the co-metabolism of carbon and nitrogen in colonies of the fungus Mucor mucedo. Oscillations are an important diagnostic of underlying dynamical processes of this model. The maintenance of specific patterns of oscillation and its relation to the robustness of this system are the important issues which have been targeted in this paper. In this regard, parametric sensitivity approach as a theoretical approach has been considered for the analysis of the robustness of this model. As a result, the parameters of the model which produce the largest sensitivities have been identified. Furthermore, the largest changes that can be made in each parameter of the model without losing the oscillations in biomass production have been computed. The results are obtained from the implementation of parametric sensitivity analysis in Matlab.

Keywords: system biology, parametric sensitivity analysis, robustness, carbon and nitrogen co-metabolism, Mucor mucedo

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Authors: Chenhong Peng

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Beijing, the capital city of China, is running out of water. The water resource per capita in Beijing is only 106 cubic meter, accounts for 5% of the country’s average level and less than 2% of the world average level. The tension between water supply and demand is extremely serious. For one hand, the surface and ground water have been over-exploited during the last decades; for the other hand, water demand keep increasing as the result of population and economic growth. There is a massive gap between water supply and demand. This paper will focus on addressing the water shortage in Beijing city by increasing water use efficiency in domestic sector. First, we will emphasize on the changing structure of water supply and demand in Beijing under the economic development and restructure during the last decade. Second, by analyzing the water use efficiency in agriculture, industry and domestic sectors in Beijing, we identify that the key determinant for addressing the water crisis is to increase the water use efficiency in domestic sector. Third, this article will explore the two primary causes for the water use inefficiency in Beijing: The ineffective water pricing policy and the poor water education and communication policy. Finally, policy recommendation will offered to improve the water use efficiency in domestic sector by making and implementing an effective water pricing policy and people-engaged water education and communication policy.

Keywords: Beijing, water use efficiency, domestic sector, water pricing policy, water education policy

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Authors: I. Kade Wiratama

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As a result of the significant growth of wind turbines in size, blade load control has become the main challenge for large wind turbines. Many advanced techniques have been investigated aiming at developing control devices to ease blade loading. Amongst them, trailing edge flaps have been proven as effective devices for load alleviation. The present study aims at investigating the potential benefits of flaps in enhancing the energy capture capabilities rather than blade load alleviation. A software tool is especially developed for the aerodynamic simulation of wind turbines utilising blades equipped with flaps. As part of the aerodynamic simulation of these wind turbines, the control system must be also simulated. The simulation of the control system is carried out via solving an optimisation problem which gives the best value for the controlling parameter at each wind turbine run condition. Developing a genetic algorithm optimisation tool which is especially designed for wind turbine blades and integrating it with the aerodynamic performance evaluator, a design optimisation tool for blades equipped with flaps is constructed. The design optimisation tool is employed to carry out design case studies. The results of design case studies on wind turbine AWT 27 reveal that, as expected, the location of flap is a key parameter influencing the amount of improvement in the power extraction. The best location for placing a flap is at about 70% of the blade span from the root of the blade. The size of the flap has also significant effect on the amount of enhancement in the average power. This effect, however, reduces dramatically as the size increases. For constant speed rotors, adding flaps without re-designing the topology of the blade can improve the power extraction capability as high as of about 5%. However, with re-designing the blade pretwist the overall improvement can be reached as high as 12%.

Keywords: flaps, design blade, optimisation, simulation, genetic algorithm, WTAero

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Authors: Addisu Teshama

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The existing criminal procedure law which is the main determinant of the phenomena of pre-trial detention is under revision in Ethiopia. The drafting work is completed and submitted for approval to the House of Peoples Representatives. The drafters of the draft law claim that the existing law is not in harmony with the constitutionally and internationally recognized principles pertinent to pretrial detention regulation. Further, the drafters allege that the drafting process is dictated by human rights principles recognized in the FDRE constitution and international human rights instruments ratified by Ethiopia. This article aims to the asses the plausibility of the claims of the drafters. For that purpose, this article uses the standards and guidelines articulated by international human rights standard setters as bench marks to juxtapose and judge the existing law and the draft criminal procedure and evidence code (DCrimPEC). The study found that the many aspects of the pre-trial detention law of Ethiopia are not in compliance with international law standards in the existing criminal procedure law. The DCrimPEC is aimed to harmonize the existing law with the constitution and international law standards. In this regard, the study found that the DCrimPEC has made significant changes on pre-trial detention policies which are not in harmony the principle of presumption of innocence. However, there are still gaps.

Keywords: pre-trial detention, right to personal liberty, right to bail, Ethiopia

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Authors: Bernard Owusu Asare

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This study investigates the implementation and efficacy of community policing within the Ghana Police Service, with a focus on its impact on local communities. Emphasizing the goal of creating safer environments and improving the overall quality of life, the research engages opinion leaders from selected communities in Ghana, as well as members of the police force stationed within these communities. Employing a semi-structured interview guide as the primary research instrument, data collection involves face-to-face interviews conducted at respondents' residences and policing centers. The preliminary findings underscore the pivotal role of collaborative efforts between community elders and police personnel in the successful execution of community policing initiatives. Furthermore, the study identifies gainful employment for the youth as a key determinant of effective policing, highlighting the interconnectedness of socioeconomic factors with law enforcement outcomes. The study further reveals that access to the internet emerges as a factor influencing both policing practices and the overall quality of life within these communities. By contextualizing the dynamics of community policing in the local Ghanaian context, this research aims to contribute valuable insights to the ongoing discourse on effective law enforcement strategies and their impact on community well-being.

Keywords: community, policing, police service, Ghana

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Authors: Festus M. Epetimehin

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This study was conducted to identify the effect of National Directorate of Employment (NDE) training on the profit of Agricultural-Small and Medium Enterprises (SMEs) and to evaluate the factors that influenced farmers' participation in NDE training, as well as the type and frequency of training farmers and other agro-allied entrepreneurs in Nigeria. Using a multi-stage sampling procedure, a total of 384 respondents were sampled, including 192 beneficiaries and 192 non-beneficiaries in Oyo and Lagos States, respectively. Data were analysed using Binary Logit regression and Propensity Score Matching techniques. According to the binary logit analysis, respondents’ gender, availability to extension services, and the location of respondent’s operation were determinant factors influencing NDE training enrolment. All identified factors are related to the probability of respondents’ involvement in a positive way. Propensity score matching revealed that Agricultural-SMEs who participated in the NDE program boosted their profit by N341,072.18. The positive outcome of the effect implies that NDE training enhances Agri-SME performance in Nigeria. The study concluded that greater funding should be provided for the NDE for performance-enhancing training of the Agri-SMEs.

Keywords: PSM, binary logit model, Agri-SME

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Authors: K. Cartelier, D. Aime, V. Vernoud, J. Buitink, J. M. Prosperi, K. Gallardo, C. Le Signor

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Legumes can produce protein-rich seeds without nitrogen fertilizer through root symbiosis with nitrogen-fixing rhizobia. Rich in lysine, these proteins are used for human nutrition and animal feed. However, the instability of seed protein yield and quality due to environmental fluctuations limits the wider use of legumes such as pea. Breeding efforts are needed to optimize and stabilize seed nutritional value, which requires to identify the genetic determinism of seed protein plasticity in response to the environment. Towards this goal, we have studied the plasticity of protein content and composition of seeds from a collection of 200 Medicago truncatula ecotypes grown under four controlled conditions (optimal, drought, and winter/spring sowing). A quantitative analysis of one-dimensional protein profiles of these mature seeds was performed and plasticity indices were calculated from each abundant protein band. Genome-Wide Association Studies (GWAS) from these data identified major GWAS hotspots, from which a list of candidate genes was obtained. A Gene Ontology Enrichment Analysis revealed an over-representation of genes involved in several amino acid metabolic pathways. This led us to propose that environmental variations are likely to modulate amino acid balance, thus impacting seed protein composition. The selection of candidate genes for controlling the plasticity of seed protein composition was refined using transcriptomics data from developing Medicago truncatula seeds. The pea orthologs of key genes were identified for functional studies by mean of TILLING (Targeting Induced Local Lesions in Genomes) lines in this crop. We will present how this study highlighted mechanisms that could govern seed protein plasticity, providing new cues towards the stabilization of legume seed quality.

Keywords: GWAS, Medicago truncatula, plasticity, seed, storage proteins

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Authors: Rohit Kothari, Muneer Mohamed, Vivekanandh K., Sunmeet Sandhu, Preema Sinha, Anuj Bhatnagar

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Introduction: Hyper-IgE syndrome is a rare primary immunodeficiency syndrome characterised by triad of severe atopic dermatitis, recurrent pulmonary infections, and recurrent staphylococcal skin infections. The diagnosis requires a high degree of suspicion, typical clinical features, and not mere rise in serum-IgE levels, which may be seen in multiple conditions. Genetic studies are not always possible in a resource poor setting. This study highlights various presentations of Hyper-IgE syndrome in skin of color children. Case-series: Our study had six children of Hyper-IgE syndrome aged twomonths to tenyears. All had onset in first ten months of life except one with a late-onset at two years. All had recurrent eczematoid rash, which responded poorly to conventional treatment, secondary infection, multiple episodes of hospitalisation for pulmonary infection, and raised serum IgE levels. One case had occasional vesicles, bullae, and crusted plaques over both the extremities. Genetic study was possible in only one of them who was found to have pathogenic homozygous deletions of exon-15 to 18 in DOCK8 gene following which he underwent bone marrow transplant (BMT), however, succumbed to lower respiratory tract infection two months after BMT and rest of them received multiple courses of antibiotics, oral/ topical steroids, and cyclosporine intermittently with variable response. Discussion: Our study highlights various characteristics, presentation, and management of this rare syndrome in children. Knowledge of these manifestations in skin of color will facilitate early identification and contribute to optimal care of the patients as representative data on the same is limited in literature.

Keywords: absolute eosinophil count, atopic dermatitis, eczematous rash, hyper-immunoglobulin E syndrome, pulmonary infection, serum IgE, skin of color

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Authors: Mengjie Qu, Yi Wang, Jiawei Ding, Siyu Chen, Yanan Di

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Marine ecosystem is facing intensified multiple stresses caused by environmental contaminants from human activities. Xenobiotics, such as benzo(α)pyrene (BaP) have been discharged into marine environment and cause hazardous impacts on both marine organisms and human beings. As a filter-feeder, marine mussels, Mytilus spp., has been extensively used to monitor the marine environment. However, their genomic alterations induced by such xenobiotics are still kept unknown. In the present study, gills, as the first defense barrier in mussels, were selected to evaluate the genetic instability alterations induced by the exposure to BaP both in vivo and in vitro. Both random amplified polymorphic DNA (RAPD) assay and comet assay were applied as the rapid tools to assess the environmental stresses due to their low money- and time-consumption. All mussels were identified to be the single species of Mytilus coruscus before used in BaP exposure at the concentration of 56 μg/l for 1 & 3 days (in vivo exposure) or 1 & 3 hours (in vitro). Both RAPD and comet assay results were showed significantly increased genomic instability with time-specific altering pattern. After the recovery period in 'in vivo' exposure, the genomic status was as same as control condition. However, the relative higher genomic instabilities were still observed in gill cells after the recovery from in vitro exposure condition. Different repair mechanisms or signaling pathway might be involved in the isolated gill cells in the comparison with intact tissues. The study provides the robust and rapid techniques to exam the genomic stability in marine organisms in response to marine environmental changes and provide basic information for further mechanism research in stress responses in marine organisms.

Keywords: genotoxic impacts, in vivo/vitro exposure, marine mussels, RAPD and comet assay

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Authors: N. R. Prasannakumar, M. N. Maruthi

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The whitefly, Bemisia tabaci (Gennadius) (Hemiptera; Aleyrodidae) is a highly polyphagous pest reported to infest over 600 plant hosts globally. About 42 genetic groups/cryptic species of B. tabaci exist in the world on different hosts. The species have variable behaviour with respect to feeding, development and transmission of viral diseases. Feeding on diverse host plants affect both whitefly development and the population of the endosymbionts harboured by the insects. Due to changes in the level of endosymbionts, the virus transmission efficiency by the vector also gets affected. We investigated these interactions on five host plants – egg plant, tomato, beans, okra and cotton - using a single whitefly species Asia 1 infected with three different bacteria Portiera, Wolbachia and Arsenophonus. The Asia 1 transmits the Tomato leaf curl Bangalore virus (ToLCBV) effectively and thus was used in the interaction studies. We found a significant impact of hosts on whitefly growth and development; eggplant was most favourable host, while okra and tomato were least favourable. Among the endosymbiotic bacteria, the titre of Wolbachia was significantly affected by feeding of B. tabaci on different host plants whereas Arsenophonus and Portiera were unaffected. When whitefly fed on ToLCBV-infected tomato plants, the Arsenophonus population was significantly increased, indicating its previously confirmed role in ToLCBV transmission. Further, screening of total proteins of B. tabaci Asia 1 genetic group interacting with ToLCBV coat protein was carried out using Y2H system. Some of the proteins found to be interacting with ToLCBV CP were HSPs 70kDa, GroEL, nucleoproteins, vitellogenins, apolipophorins, lachesins, enolase. The reported protein thus would be the potential targets for novel whitefly control strategies such as RNAi or novel insecticide target sites for sustainable whitefly management after confirmation of genuine proteins.

Keywords: cDNA, whitefly, ToLCBV, endosymbionts, Y2H

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Authors: O. O. Leigh, L. C. Agbugba, A. O. Oyewunmi, A. E. Ibiam, A. Hassan

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Accuracy of insemination timing is a key determinant of high pregnancy rates in livestock breeding stations. The estrous detector probes are a recent introduction into the Nigerian livestock farming sector. Many of these probes are species-labeled and they measure changes in the vaginal mucus resistivity (VMR) during the stages of the estrous cycle. With respect to size and shaft conformation, the Draminski® swine estrous detector probe (sEDP) is quite similar to the bovine estrous detector probe. We investigated the reliability of the sEDP at insemination time on two farms designated as FM A and FM B. Cows (Bunaji, n=20 per farm) were evaluated for VMR at 16th h post standard OvSynch protocol, with concurrent insemination on FM B only. The difference in the mean VMR between FM A (221 ± 24.36) Ohms and FM B (254 ± 35.59) Ohms was not significant (p > 0.05). Sixteen cows (80%) at FM B were later (day 70) confirmed pregnant via rectal palpation and calved at term. These findings suggest consistency in VMR evaluated with sEDP at insemination as well as a high predictability for VMR associated with good pregnancy rates in dairy cattle. We conclude that Draminski® swine estrous detector probe is reliable in determining time of insemination in cattle breeding stations.

Keywords: dairy cattle, insemination, swine estrous probe, vaginal mucus resistivity

Procedia PDF Downloads 110

Authors: Ahmed Elbeltagy, Francesca Bertolini, Damarius Fleming, Angelica Van Goor, Chris Ashwell, Carl Schmidt, Donald Kugonza, Susan Lamont, Max Rothschild

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The major factor in shaping genomic variation of the African indigenous rural chicken is likely natural selection drives the development genetic footprints in the chicken genomes. To investigate such a hypothesis of a selection footprint, a total of 292 birds were randomly sampled from three indigenous ecotypes from East Africa (Uganda, Rwanda) and North Africa (Egypt) and two registered Egyptian breeds (Fayoumi and Dandarawi), and from the synthetic Kuroiler breed. Samples were genotyped using the Affymetrix 600K Axiom® Array. A total of 526,652 SNPs were utilized in the downstream analysis after quality control measures. The intra-population runs of homozygosity (ROH) that were consensuses in > 50% of individuals of an ecotype or > 75% of a breed were studied. To identify inter-population differentiation due to genetic structure, FST was calculated for North- vs. East- African populations in addition to population-pairwise combinations for overlapping windows (500Kb with an overlap of 250Kb). A total of 28,563 ROH were determined and were classified into three length categories. ROH and Fst detected sweeps were identified on several autosomes. Several genes in these regions are likely to be related to adaptation to local environmental stresses that include high altitude, diseases resistance, poor nutrition, oxidative and heat stresses and were linked to gene ontology terms (GO) related to immune response, oxygen consumption and heme binding, carbohydrate metabolism, oxidation-reduction, and behavior. Results indicated a possible effect of natural selection forces on shaping genomic structure for adaptation to local environmental stresses.

Keywords: African Chicken, runs of homozygosity, FST, selection footprints

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Authors: Vinod Kumar Gupta, Narendrakumar M. Chaudhari, Suchismitha Iskepalli, Chitra Dutta

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Background-The community composition of the human microbiome is known to vary at distinct anatomical niches. But little is known about the nature of variations if any, at the genome/sub-genome levels of a specific microbial community across different niches. The present report aims to explore, as a case study, the variations in gene repertoire of 28 Prevotella reference draft genomes derived from different body-sites of human, as reported earlier by the Human Microbiome Consortium. Results-The analysis reveals the exclusive presence of 11798, 3673, 3348 and 934 gene families and exclusive absence of 17, 221, 115 and 645 gene families in Prevotella genomes derived from the human oral cavity, gastro-intestinal tracts (GIT), urogenital tract (UGT) and skin, respectively. The pan-genome for Prevotella remains “open”. Distribution of various functional COG categories differs appreciably among the habitat-specific genes, within Prevotella pan-genome and between the GIT-derived Bacteroides and Prevotella. The skin and GIT isolates of Prevotella are enriched in singletons involved in Signal transduction mechanisms, while the UGT and oral isolates show higher representation of the Defense mechanisms category. No niche-specific variations could be observed in the distribution of KEGG pathways. Conclusion-Prevotella may have developed distinct genetic strategies for adaptation to different anatomical habitats through selective, niche-specific acquisition and elimination of suitable gene-families. In addition, individual microorganisms tend to develop their own distinctive adaptive stratagems through large repertoires of singletons. Such in situ, habitat-driven refurbishment of the genetic makeup can impart substantial intra-lineage genome diversity within the microbes without perturbing their general taxonomic heritage.

Keywords: body niche adaptation, human microbiome, pangenome, Prevotella

Procedia PDF Downloads 239

Authors: Behrang Ekrami, Amin Tamadon, Iman Razeghian Jahromi, Darioush Moghadas, Mehdi Ghahremani-Seno, Mostafa Ghaderi-Zefrehei, Ahmad Sodagar Amiri, Taheri Reza

Abstract:

Persian fallow deer (Dama dama mesopotamica) is belonging to the family Cervidae and is only found in a few protected areas in the northwest, north, and southwest of Iran. The aims of this study were analysis of inbreeding and morphometric parameters of semen in male Persian fallow deer to investigate the cause of reduced fertility of this endangered species in Dasht-e-Naz National Refuge, Sari, Iran. The Persian fallow deer semen was collected from four adult bucks randomly during the breeding and non-breeding season from five dehorned and horned deer's by an artificial vagina. Twelve blood samples was taken from Persian fallow deer and mitochondrial DNA was extracted, amplified, extracted, sequenced and then were considered for genetic analysis. The Persian fallow deer semen, both with normal and abnormal spermatozoa, is similar to that of domestic ruminants but very smaller and difficult to observe at the primary observation. The post-mating season collected ejaculates contained abnormal spermatozoa, debris and secretion of accessory glands in horned bucks and accessory glands secretion free of any spermatozoa in dehorned or early velvet budding bucks. Microscopic evaluation in all four bucks during the mating season showed the mean concentration of 9×106 spermatozoa/ml. The mean ± SD of age, testes length and testes width was 4.60 ± 1.52 years, 3.58 ± 0.32 and 1.86 ± 0.09 cm, respectively. The results identified 1120 loci (assuming each nucleotide as locus) in which 377 were polymorphic. In conclusion, reduced fertility of male Persian fallow deer may be caused by inbreeding of the protected herd in a limited area of Dasht-e-Naz National Refuge.

Keywords: Persian fallow deer, genetic analysis, spermatozoa, reproductive characteristics

Procedia PDF Downloads 579

Authors: Quyen Vu Dang Ha, Oanh Truong Thi, Thuoc Tran Linh, Kent Carpenter, Thinh Doan Vu, Binh Dang Thuy

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Enzyme restriction site associated DNA (EzRAD) has recently emerged as a promising genomic approach for exploring fish genetic diversity on a genome-wide scale. This is a simplified method for genomic genotyping in non-model organisms and applied for SNPs discovery in the population genetics of freshwater and marine fish in the South of Vietnam. The observations of regional-scale differentiation of commercial freshwater fish (smallscale croakers Boesemania microlepis) and marine fish (emperor Lethrinus lentjan) are clarified. Samples were collected along Hau River and coastal area in the south and center Vietnam. 52 DNA samples from Tra Vinh, An Giang Province for Boesemania microlepis and 34 DNA samples of Lethrinus lentjan from Phu Quoc, Nha Trang, Da Nang Province were used to prepare EzRAD libraries from genomic DNA digested with MboI and Sau3AI. A pooled sample of regional EzRAD libraries was sequenced using the HiSeq 2500 Illumina platform. For Boesemania microlepis, the small scale population different from upstream to downstream of Hau river were detected, An Giang population exhibited less genetic diversity (SNPs per individual from 14 to 926), in comparison to Tra Vinh population (from 11 to 2172). For Lethrinus lentjan, the result showed the minor difference between populations in the Northern and the Southern Mekong River. The numbers of contigs and SNPs vary from 1315 to 2455 and from 7122 to 8594, respectively (P ≤ 0.01). The current preliminary study reveals regional scale population disconnection probably reflecting environmental changing. Additional sampling and EzRad libraries need to be implemented for resource management in the Mekong Delta.

Keywords: Boesemania microlepis, EzRAD, Lethrinus lentjan, SNPs

Procedia PDF Downloads 490

Authors: Yuzhen Hu, Sirui Wang

Abstract:

As a training base for intellectual talents, universities have a large number of students. Teaching is a primary activity in universities, and during the teaching process, a large number of people gather both inside and outside the teaching buildings, posing a strong risk of close contact. The class schedule is the fundamental basis for teaching activities in universities and plays a crucial role in the management of teaching order. Different class schedules can lead to varying degrees of indoor gatherings and trajectories of class attendees. In recent years, highly contagious diseases have frequently occurred worldwide, and how to reduce the risk of infection has always been a hot issue related to public safety. "Reducing gatherings" is one of the core measures in epidemic prevention and control, and it can be controlled through scientific scheduling in specific environments. Therefore, the scientific prevention and control goal can be achieved by considering the reduction of the risk of excessive gathering of people during the course schedule arrangement. Firstly, we address the issue of personnel gathering in various pathways on campus, with the goal of minimizing congestion and maximizing teaching effectiveness, establishing a nonlinear mathematical model. Next, we design an improved genetic algorithm, incorporating real-time evacuation operations based on tracking search and multidimensional positive gradient cross-mutation operations, considering the characteristics of outdoor crowd evacuation. Finally, we apply undergraduate course data from a university in Harbin to conduct a case study. It compares and analyzes the effects of algorithm improvement and optimization of gathering situations and explores the impact of path blocking on the degree of gathering of individuals on other pathways.

Keywords: the university timetabling problem, risk prevention, genetic algorithm, risk control

Procedia PDF Downloads 64

Authors: Pavlina Capkova, Josef Srovnal, Vera Becvarova, Marie Trkova, Zuzana Capkova, Andrea Stefekova, Vaclava Curtisova, Alena Santava, Sarka Vejvalkova, Katerina Adamova, Radek Vodicka

Abstract:

ASDs are heterogeneous and complex developmental diseases with a significant genetic background. Recurrent CNVs are known to be a frequent cause of ASD. These CNVs can have, however, a variable expressivity which results in a spectrum of phenotypes from asymptomatic to ID/DD/ASD. ASD is associated with ID in ~75% individuals. Various platforms are used to detect pathogenic mutations in the genome of these patients. The performed study is focused on a determination of the frequency of pathogenic mutations in a group of ASD patients and a group of ID/DD patients using various strategies along with a comparison of their detection rate. The possible role of the origin of these mutations in aetiology of ASD was assessed. The study included 35 individuals with ASD and 68 individuals with ID/DD (64 males and 39 females in total), who underwent rigorous genetic, neurological and psychological examinations. Screening for pathogenic mutations involved karyotyping, screening for FMR1 mutations and for metabolic disorders, a targeted MLPA test with probe mixes Telomeres 3 and 5, Microdeletion 1 and 2, Autism 1, MRX and a chromosomal microarray analysis (CMA) (Illumina or Affymetrix). Chromosomal aberrations were revealed in 7 (1 in the ASD group) individuals by karyotyping. FMR1 mutations were discovered in 3 (1 in the ASD group) individuals. The detection rate of pathogenic mutations in ASD patients with a normal karyotype was 15.15% by MLPA and CMA. The frequencies of the pathogenic mutations were 25.0% by MLPA and 35.0% by CMA in ID/DD patients with a normal karyotype. CNVs inherited from asymptomatic parents were more abundant than de novo changes in ASD patients (11.43% vs. 5.71%) in contrast to the ID/DD group where de novo mutations prevailed over inherited ones (26.47% vs. 16.18%). ASD patients shared more frequently their mutations with their fathers than patients from ID/DD group (8.57% vs. 1.47%). Maternally inherited mutations predominated in the ID/DD group in comparison with the ASD group (14.7% vs. 2.86 %). CNVs of an unknown significance were found in 10 patients by CMA and in 3 patients by MLPA. Although the detection rate is the highest when using CMA, recurrent CNVs can be easily detected by MLPA. CMA proved to be more efficient in the ID/DD group where a larger spectrum of rare pathogenic CNVs was revealed. This study determined that maternally inherited highly penetrant mutations and de novo mutations more often resulted in ID/DD without ASD in patients. The paternally inherited mutations could be, however, a source of the greater variability in the genome of the ASD patients and contribute to the polygenic character of the inheritance of ASD. As the number of the subjects in the group is limited, a larger cohort is needed to confirm this conclusion. Inherited CNVs have a role in aetiology of ASD possibly in combination with additional genetic factors - the mutations elsewhere in the genome. The identification of these interactions constitutes a challenge for the future. Supported by MH CZ – DRO (FNOl, 00098892), IGA UP LF_2016_010, TACR TE02000058 and NPU LO1304.

Keywords: autistic spectrum disorders, copy number variant, chromosomal microarray, intellectual disability, karyotyping, MLPA, multiplex ligation-dependent probe amplification

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