Search results for: non genetic factors

Authors: Snezana Mugosa, Zoran Todorovic, Zoran Bukumiric, Ivan Radosavljevic, Natasa Djordjevic

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Introduction: Various studies have shown that the frequency of clopidogrel resistance ranges from 4-40%. The aim of this study was to provide in depth analysis of genetic and non-genetic factors that influence clopidogrel resistance in cardiology patients. Methods: We have conducted a prospective study in 200 hospitalized patients hospitalized at Cardiology Centre of the Clinical Centre of Montenegro. CYP2C19 genetic testing was conducted, and the PREDICT score was calculated in 102 out of 200 patients treated with clopidogrel in order to determine the influence of genetic and non-genetic factors on outcomes of interest. Adverse cardiovascular events and adverse reactions to clopidogrel were assessed during 12 months follow up period. Results: PREDICT score and CYP2C19 enzymatic activity were found to be statistically significant predictors of expressing lack of therapeutic efficacy of clopidogrel by multivariate logistic regression, without multicollinearity or interaction between the predictors (p = 0.002 and 0.009, respectively). Conclusions: Pharmacogenetics analyses that were done in the Montenegrin population of patients for the first time suggest that these analyses can predict patient response to the certain therapy. Stepwise approach could be used in assessing the clopidogrel resistance in cardiology patients, combining the PREDICT score, platelet aggregation test, and genetic testing for CYP2C19 polymorphism.

Keywords: clopidogrel, pharmacogenetics, pharmacotherapy, PREDICT score

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Authors: Ju-Chun Chien

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The Ottawa Charter for Health Promotion proposed that the role of health services should shift the focus from cure to prevention. Nowadays, besides having physical examinations, people could also conduct genetic tests to provide important information for diagnosing, treating, and/or preventing illnesses. However, because of the incompletion of the Chinese Genetic Database, people in Taiwan were still unfamiliar with genetic testing. The purposes of the present study were to: (1) Figure out people’s attitudes towards genetic testing. (2) Examine factors that influence people’s intention to pursue genetic testing by means of the Health Belief Model (HBM). A pilot study was conducted on 249 Taiwanese in 2017 to test the feasibility of the self-developed instrument. The reliability and construct validity of scores on the self-developed questionnaire revealed that this HBM-based questionnaire with 40 items was a well-developed instrument. A total of 542 participants were recruited and the valid participants were 535 (99%) between the ages of 20 and 86. Descriptive statistics, one-way ANOVA, two-way contingency table analysis, Pearson’s correlation, and stepwise multiple regression analysis were used in this study. The main results were that only 32 participants (6%) had already undergone genetic testing; moreover, their attitude towards genetic testing was more positive than those who did not have the experience. Compared with people who never underwent genetic tests, those who had gone for genetic testing had higher self-efficacy, greater intention to pursue genetic testing, had academic majors in health-related fields, had chronic and genetic diseases, possessed Catastrophic Illness Cards, and all of them had heard about genetic testing. The variables that best predicted people’s intention to pursue genetic testing were cues to action, self-efficacy, and perceived benefits (the three variables all correlated with one another positively at high magnitudes). To sum up, the HBM could be effective in designing and identifying the needs and priorities of the target population to pursue genetic testing.

Keywords: genetic testing, knowledge of GT, people in Taiwan, the health belief model

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Authors: Matthew T. Wilson

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This paper covers a selection of research utilizing grammar-based genetic programming, and illustrates how context-free grammar can be used to constrain genetic programming. It focuses heavily on grammatical evolution, one of the most popular variants of grammar-based genetic programming, and the way its operators and terminals are specialized and modified from those in genetic programming. A variety of implementations of grammatical evolution for general use are covered, as well as research each focused on using grammatical evolution or grammar-based genetic programming on a single application, or to solve a specific problem, including some of the classically considered genetic programming problems, such as the Santa Fe Trail.

Keywords: context-free grammar, genetic algorithms, genetic programming, grammatical evolution

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Authors: Khaled Al-Najjar, Ahmad Q. Al-Momani, Ahmed Elnahas, Reda Elsaid

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The research was carried out using records of Awassi sheep bred in drylands at Al-Fjaj Station, Jordan. That aimed to study non-genetic factors affecting milk yield (MK), litter size at birth (LZB); estimate heritability, repeatability, and genetic and phenotypic correlation using SAS and MTDFREML programs. The results were as follows, the average MK and LZB were 92.84 (kg) and 1.16, respectively. MK was highly significantly affected by each parity, age of ewe, year of lambing, and lactation period, while only the year of lambing had a significant effect on LZB. The heritability and repeatability were 0.07 and 0.10 for MK, while it was 0.05 and 0.25 for LZB. The genetic and phenotypic correlations were 0.17 and 0.02 between MK and LZB, respectively. The research concluded that the herd is genetically homozygous and therefore needs to increase genetic variance by introducing LZB-improved rams and selecting females from dams who achieved at least four parties to increase returns in drylands.

Keywords: Awassi sheep, genetic parameters, litter size, milk yield

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Authors: Thananyada Buapian

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Overnutrition is emerging as a morbid disease in developing and Westernized countries. Because of its comorbidity diseases, it is cost-effective to prevent and manage this disease earlier. In Thailand, this alarming disease has long been studied, but the prevalence is still higher than that in the past. Physicians should recognize it well and have a definite direction to face and combat this dangerous disease. Rapid changes in the tremendous figure of overnutrition students indicate that genetic factors are not the primary determinants since human genes have remained unchanged for a century. This study aims to assess the prevalence of overnutrition students and to investigate the non-genetic factors affecting over nutrition students. A cross-sectional school-based survey was conducted. A two-stage sampling was adopted. Respondents included 1,850 students in grades 4 to 6 in Ayutthaya Province. An anthropometric measurement and questionnaire were developed. Childhood over nutrition was defined as a weight-for-height Z-score above +2SD of NCHS/WHO references. About thirty three percent of the children were over nutrition in Ayutthaya province. Stepwise multiple logistic regression analysis showed that 8 statistically significant non genetic factors explain the variation of childhood over nutrition by 18 percent. Sex is the prime factor to explain the variation of childhood over nutrition, followed by duration of light physical activities, duration of moderate physical activities, having been breastfed, the presence of a healthy role model of the caregiver, number of siblings, birth order, and occupation of the caregiver, respectively. Non genetic factors, especially the subjects’ demographic and physical activities, as well as the caregivers’ background and family environment, should be considered in viable approach to remedy this health imbalance in children.

Keywords: non genetic factors, non-genetic, over nutrition, over nutrition students

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Authors: Agi Sunday

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A descriptive analysis of reported cases of sickle cell disease and the level of awareness about genetic counselling in 30 hospitals were carried out. Additionally, 150 individuals between ages 16-45 were randomly selected for evaluation of genetic counselling awareness. The main tools for this study were questionnaires which were taken to hospitals, and individuals completed the others. The numbers of reported cases of sickle cell disease recorded in private, public and teaching hospitals were 14 and 57; 143 and 89; 272 and 57 for the periods of 1995-2000 and 2001-2005, respectively. A general informal genetic counselling took place mostly in the hospitals visited. 122 (86%) individuals had the knowledge of genetic disease and only 43 (30.3%) individuals have been exposed to genetic counselling. 64% of individuals agreed that genetic counselling would help in the prevention of genetic disease.

Keywords: sickle disease, genetic counseling, genetic testing, advocacy

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Authors: H. Afsari, H. Shokouhmand

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When stack is placed in a thermoacoustic resonator in a cryocooler, one extremity of the stack heats up while the other cools down due to the thermoacoustic effect. In the present, with expression a formula by linear theory, will see this temperature difference depends on what factors. The computed temperature difference is compared to the one predicted by the formula. These discrepancies can not be attributed to non-linear effects, rather they exist because of thermal effects. Two correction factors are introduced for close up results among linear theory and computed and use these correction factors to modified linear theory. In fact, this formula, is optimized by GA (Genetic Algorithm). Finally, results are shown at different Mach numbers and stack location in resonator.

Keywords: heat transfer, thermoacoustic cryocooler, stack, resonator, mach number, genetic algorithm

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Authors: Ashraf M. Ward, Ruban S. Yu

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Data consisting of 2757 records from tow Holstein herds made between 2000 and 2010 were used to examine environmental factors affecting age at first calving (AFC) and calving intervals (CI) and consequently estimate genetic and phenotypic parameters and trends. The overall means and standard errors for AFC and CI were 39.4 ± 7.2 months and 487.5 ± 151.6 days respectively. The respective heritability estimates were 0.091 ± 0.05 and 0.044 ± 0.032, while the repeatability estimate for CI was 0.096 ± 0.001. The genetic trends for CI and AFC were -0.6 d/yr and -0.01 mo/yr respectively and were both significant (P < 0.001), indicating a decrease in mean breeding value over the study period. Phenotypic trends were -0.31 mo/yr and -0.35 d/yr for AFC and CI respectively though non-significant (P > 0.05). The low heritability for CI and AFC indicated that temporary environmental influences were much greater than genetic influences or permanent environmental influences on these traits.

Keywords: Holstein, reproductive, genetic parameters, heritability

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Authors: Annu Panghal, Bimla Dhanda

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This research paper aims to determine the genetic-environment influences on the cognitive abilities of twins. Using the 100 pairs of twins from two districts, namely: Bhiwani (N = 90) and Hisar (N = 110) of Haryana State, genetic and environmental influences were assessed in twin study design. The cognitive abilities of twins were measured using the Wechsler Intelligence Scale for Children (WISC-R). Home Observation for Measurement of the Environment (HOME) Inventory was taken to examine the home environment of twins. Heritability estimate was used to analyze the genes contributing to shape the cognitive abilities of twins. The heritability estimates for cognitive abilities of 6-7 years old twins in Hisar district were 74% and in Bhiwani District 76%. Further the heritability estimates were 64% in the twins of Hisar district and 60 in Bhiwani district % in the age group of 7-8 years. The remaining variations in the cognitive abilities of twins were due to environmental factors namely: provision for Active Stimulation, paternal involvement, safe physical environment. The findings provide robust evidence that the cognitive abilities were more influenced by genes than the environmental factors and also revealed that the influence of genetic was more in the age group 6-7 years than the age group 7-8 years. The conclusion of the heritability estimates indicates that the genetic influence was more in the age group of 6-7 years than the age group of 7-8 years. As the age increases the genetic influence decreases and environment influence increases. Mother education was strongly associated with the cognitive abilities of twins.

Keywords: genetics, heritability, twins, environment, cognitive abilities

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Authors: Amy Gooden, Meshandren Naidoo

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Genetic research is not confined to a particular jurisdiction. Using direct-to-consumer genetic testing (DTC-GT) as an example, this research assesses the status of data sharing into and out of South Africa (SA). While SA laws cover the sending of genetic data out of SA, prohibiting such transfer unless a legal ground exists, the position where genetic data comes into the country depends on the laws of the country from where it is sent – making the legal position less clear.

Keywords: cross-border, data, genetic testing, law, regulation, research, sharing, South Africa

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Authors: Sikander Singh Cheema, Jasmeen Kaur

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In this paper, the concept of data mining is summarized and its one of the important process i.e KDD is summarized. The data mining based on Genetic Algorithm is researched in and ways to achieve the data mining Genetic Algorithm are surveyed. This paper also conducts a formal review on the area of data mining tasks and genetic algorithm in various fields.

Keywords: data mining, KDD, genetic algorithm, descriptive mining, predictive mining

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Authors: Fariborz Ahmadi, Reza Tati

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Genetic algorithm is a soft computing method that works on set of solutions. These solutions are called chromosome and the best one is the absolute solution of the problem. The main problem of this algorithm is that after passing through some generations, it may be produced some chromosomes that had been produced in some generations ago that causes reducing the convergence speed. From another respective, most of the genetic algorithms are implemented in software and less works have been done on hardware implementation. Our work implements genetic algorithm in hardware that doesn’t produce chromosome that have been produced in previous generations. In this work, most of genetic operators are implemented without producing iterative chromosomes and genetic diversity is preserved. Genetic diversity causes that not only do not this algorithm converge to local optimum but also reaching to global optimum. Without any doubts, proposed approach is so faster than software implementations. Evaluation results also show the proposed approach is faster than hardware ones.

Keywords: hardware, genetic algorithm, computer science, engineering

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Authors: M. F. Miah, A. Chakrabarty

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Two popular and highly valued fish, Stinging catfish (Heteropneustes fossilis) and Asian catfish (Clarias batrachus) are considered for observing genetic enhancement. Cross breeding was performed considering wild and farmed fish through inducing agent. Five RAPD markers were used to assess genetic diversity among parents and offspring of these two catfish for evaluating genetic enhancement in F1 generation. Considering different genetic data such as banding pattern of DNA, polymorphic loci, polymorphic information content (PIC), inter individual pair wise similarity, Nei genetic similarity, genetic distance, phylogenetic relationships, allele frequency, genotype frequency, intra locus gene diversity and average gene diversity of parents and offspring of these two fish were analyzed and finally in both cases higher genetic diversity was found in F1 generation than the parents.

Keywords: Heteropneustes fossilis, Clarias batrachus, cross breeding, genetic enhancement

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Authors: Hesham Abdin, Mohamed Zakaria, Talaat Abd-Elmonaem, Alaa El-Din Sayed Hafez

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Kalman filter algorithm is an estimator known as the workhorse of estimation. It has an important application in missile guidance, especially in lack of accurate data of the target due to noise or uncertainty. In this paper, a Kalman filter is used as a tracking filter in a simulated target-interceptor scenario with noise. It estimates the position, velocity, and acceleration of the target in the presence of noise. These estimations are needed for both proportional navigation and differential geometry guidance laws. A Kalman filter has a good performance at low noise, but a large noise causes considerable errors leads to performance degradation. Therefore, a new technique is required to overcome this defect using tuning factors to tune a Kalman filter to adapt increasing of noise. The values of the tuning factors are between 0.8 and 1.2, they have a specific value for the first half of range and a different value for the second half. they are multiplied by the estimated values. These factors have its optimum values and are altered with the change of the target heading. A genetic algorithm updates these selections to increase the maximum effective range which was previously reduced by noise. The results show that the selected factors have other benefits such as decreasing the minimum effective range that was increased earlier due to noise. In addition to, the selected factors decrease the miss distance for all ranges of this direction of the target, and expand the effective range which leads to increase probability of kill.

Keywords: proportional navigation, differential geometry, Kalman filter, genetic algorithm

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Authors: Amy Gooden

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Despite its prevalence, direct-to-consumer genetic testing (DTC-GT) remains under-investigated in South Africa (SA), and the issue of regulation is yet to be examined. Therefore, this research maps the current legal landscape relating to DTC-GT in SA through a legal analysis of the extant law relevant to the industry and the issues associated therewith – with the intention of determining if and how DTC-GT is legally governed. This research analyses: whether consumers are legally permitted to collect their saliva; whether DTC-GT are medical devices; licensing, registering, and advertising; importing and exporting; and genetic research conducted by companies.

Keywords: direct-to-consumer genetic testing, genetic testing, health, law, regulation, South Africa

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Authors: Norezzine Abdelaziz, Rebouh Nazih Yacer, Kezimana Parfait, Parpura D. I., Gadzhikurbanov A., Anastasios Dranidis

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The genetic variation of Shvicezebuvides cattle from three different farms in the Tajikistan Republic was studied using 10 microsatellite markers (SSR). The trials were laid out using a multi- locus analysis system for the analysis of cattle microsatellite locus. An estimated genetic variability of the examined livestock is given in the article. The results of our SSR analysis as well as the numbers and frequencies of common alleles in studied samples, we established a high genetic similarity of studied samples. These results can also be furthermore useful in the decision making for preservation and rational genetic resources usage of the Tajik Shvicezebuvides cattle.

Keywords: genetic characteristic, frequencies of the occurrence alleles, microsatellite markers, Swiss cattle

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Authors: Salinee Thumronglaohapun

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The proper number and appropriate locations of service centers can save cost, raise revenue and gain more satisfaction from customers. Establishing service centers is high-cost and difficult to relocate. In long-term planning periods, several factors may affect the service. One of the most critical factors is uncertain demand of customers. The opened service centers need to be capable of serving customers and making a profit although the demand in each period is changed. In this work, the capacitated location-allocation problem with stochastic demand is considered. A mathematical model is formulated to determine suitable locations of service centers and their allocation to maximize total profit for multiple planning periods. Two heuristic methods, a local search and genetic algorithm, are used to solve this problem. For the local search, five different chances to choose each type of moves are applied. For the genetic algorithm, three different replacement strategies are considered. The results of applying each method to solve numerical examples are compared. Both methods reach to the same best found solution in most examples but the genetic algorithm provides better solutions in some cases.

Keywords: location-allocation problem, stochastic demand, local search, genetic algorithm

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Authors: Fayyaz Rasool, Shakeela Parveen

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The studies on genetic diversity of Labeo rohita by using molecular markers were carried out to investigate the genetic structure by RAPAD marker and the levels of polymorphism and similarity amongst the different groups of five populations of wild and farmed types. The samples were collected from different five locations as representatives of wild and hatchery raised populations. RAPAD data for Jaccard’s coefficient by following the un-weighted Pair Group Method with Arithmetic Mean (UPGMA) for Hierarchical Clustering of the similar groups on the basis of similarity amongst the genotypes and the dendrogram generated divided the randomly selected individuals of the five populations into three classes/clusters. The variance decomposition for the optimal classification values remained as 52.11% for within class variation, while 47.89% for the between class differences. The Principal Component Analysis (PCA) for grouping of the different genotypes from the different environmental conditions was done by Spearman Varimax rotation method for bi-plot generation of the co-occurrence of the same genotypes with similar genetic properties and specificity of different primers indicated clearly that the increase in the number of factors or components was correlated with the decrease in eigenvalues. The Kaiser Criterion based upon the eigenvalues greater than one, first two main factors accounted for 58.177% of cumulative variability.

Keywords: variation, clustering, PCA, wild, hatchery, RAPAD, Labeo rohita

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Authors: Mohammed Jamal Al-Mansor, Kok Beng Gan

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This paper develops an optimized embedding of payload in medical image by using genetic optimization. The goal is to preserve region of interest from being distorted because of the watermark. By using this developed system there is no need of manual defining of region of interest through experts as the system will apply the genetic optimization to select the parts of image that can carry the watermark with guaranteeing less distortion. The experimental results assure that genetic based optimization is useful for performing steganography with less mean square error percentage.

Keywords: AES, DWT, genetic algorithm, watermarking

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Authors: Andi Darmawan, Dewi Retno Sari Saputro, Purnami Widyaningsih

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Diabetes mellitus (DM) is a chronic disease in human that occurred if pancreas cannot produce enough of insulin hormone or the body uses ineffectively insulin hormone which causes increasing level of glucose in the blood, or it was called hyperglycemia. In Indonesia, DM is a serious disease on health because it can cause blindness, kidney disease, diabetic feet (gangrene), and stroke. The type of DM criteria can also be divided based on the main causes; they are DM type 1, type 2, and gestational. Diabetes type 1 or previously known as insulin-independent diabetes is due to a lack of production of insulin hormone. Diabetes type 2 or previously known as non-insulin dependent diabetes is due to ineffective use of insulin while gestational diabetes is a hyperglycemia that found during pregnancy. The most one type commonly found in patient is DM type 2. The main factors of this disease are genetic (A) and life style (E). Those disease with 2 factors can be constructed with additive genetic and unique environment (AE) model. In this article was discussed parameter estimation of AE model using Bayesian method and the inheritance character simulation on parent-offspring. On the AE model, there are response variable, predictor variables, and parameters were capable of representing the number of population on research. The population can be measured through a taken random sample. The response and predictor variables can be determined by sample while the parameters are unknown, so it was required to estimate the parameters based on the sample. Estimation of AE model parameters was obtained based on a joint posterior distribution. The simulation was conducted to get the value of genetic variance and life style variance. The results of simulation are 0.3600 for genetic variance and 0.0899 for life style variance. Therefore, the variance of genetic factor in DM type 2 is greater than life style.

Keywords: AE model, Bayesian method, diabetes mellitus type 2, genetic, life style

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Authors: Mustafa Yorgancılar, Emine Atalay, Necdet Akgün, Ali Topal

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In this study, polymerase chain reaction based Inter-simple sequence repeat (ISSR) from DNA fingerprinting techniques were used to investigate the genetic relationships among barley crossbreed genotypes in Turkey. It is important that selection based on the genetic base in breeding programs via ISSR, in terms of breeding time. 14 ISSR primers generated a total of 97 bands, of which 81 (83.35%) were polymorphic. The highest total resolution power (RP) value was obtained from the F2 (0.53) and M16 (0.51) primers. According to the ISSR result, the genetic similarity index changed between 0.64–095; Lane 3 with Line 6 genotypes were the closest, while Line 36 were the most distant ones. The ISSR markers were found to be promising for assessing genetic diversity in barley crossbreed genotypes.

Keywords: barley, crossbreed, genetic similarity, ISSR

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Authors: Salwa Hagag Abdelaziz, Dorria Salem, Hoda Zaki, Suzan Atteya

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Early detection of breast cancer saves many thousands of lives each year via application of mammography and genetic screening and many more lives could be saved if nurses are involved in breast care screening practices. So, the aim of the study was to identify nurse's role in early detection of breast cancer through mammography and genetic screening and its impact on patient's outcome. In order to achieve this aim, 400 women above 40 years, asymptomatic were recruited for mammography and genetic screening. In addition, 50 nurses and 6 technologists were involved in the study. A descriptive analytical design was used. Five tools were utilized: sociodemographic, mammographic examination and risk factors, women's before, during and after mammography, items relaying to technologists, and items related to nurses were also obtained. The study finding revealed that 3% of women detected for malignancy and 7.25% for fibroadenoma. Statistically, significant differences were found between mammography results and age, family history, genetic screening, exposure to smoke, and using contraceptive pills. Nurses have insufficient knowledge about screening tests. Based on these findings the present study recommended involvement of nurses in breast care which is very important to in force population about screening practices.

Keywords: mammography, early detection, genetic screening, breast cancer

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Authors: Farman Ali, Asif Mahmood

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The utilization of genetic markers in prostate cancer management represents a significant advance in personalized medicine, offering the potential for more precise diagnosis and tailored treatment strategies. This paper explores the pivotal role of genetic markers in the diagnosis and treatment of prostate cancer, emphasizing their contribution to the identification of individual risk profiles, tumor aggressiveness, and response to therapy. By integrating current research findings, we discuss the application of genetic markers in developing targeted therapies and the implications for patient outcomes. Despite the promising advancements, challenges such as accessibility, cost, and the need for further validation in diverse populations remain. The paper concludes with an outlook on future directions, underscoring the importance of genetic markers in revolutionizing prostate cancer care.

Keywords: prostate cancer, genetic markers, personalized medicine, BRCA1 and BRCA2

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Authors: Renata Silva-Mann, Sheila Valéria Álvares Carvalho, Robério Anastácio Ferreira, Laura Jane Gomes

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There is growing interest in defining indicators of sustainability, which are important for monitoring the conservation of native forests, particularly in areas of permanent protection. These indicators are references for assessing the state of the forest and the status of the depredated area and its ability to maintain species populations. The aim of the present study was to select genetic parameters as indicators of sustainability for Schinus terebinthifolius Raddi. Fragments located in riparian areas between the Sergipe and Alagoas States in Brazil. This species has been exploited for traditional communities, which represent 20% of the incoming. This study was carried out using the indicators suggested by the Organization for Economic Cooperation and Development, which were identified as Driving-Pressure-State-Impact-Response (DPSIR) factors. The genetic parameters were obtained in five populations located on the shores and islands of the São Francisco River, one of the most important rivers in Brazil. The framework for Schinus conservation suggests seventeen indicators of sustainability. In accordance with genetic parameters, the populations are isolated, and these genetic parameters can be used to monitor the sustainability of those populations in riparian area with the aim of defining strategies for forest restoration.

Keywords: alleles, molecular markers, genetic diversity, biodiversity

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Authors: Amy Gooden, Meshandren Naidoo

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Genetic research and transfers of big data are not confined to a particular jurisdiction, but there is a lack of clarity regarding the legal requirements for importing and exporting such data. Using direct-to-consumer genetic testing (DTC-GT) as an example, this research assesses the status of data sharing into and out of South Africa (SA). While SA laws cover the sending of genetic data out of SA, prohibiting such transfer unless a legal ground exists, the position where genetic data comes into the country depends on the laws of the country from where it is sent – making the legal position less clear.

Keywords: cross-border, data, genetic testing, law, regulation, research, sharing, South Africa

Procedia PDF Downloads 125

Authors: M. G. Gopisankar, A. Surendiran, M. Hemachandren

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The dose requirement of warfarin to achieve target INR range varies in patients with prosthetic heart valve. This variation in is affected by both genetic and non-genetic factors. Earlier studies have identified role of CYP2C9 and VKORC1 genetic polymorphisms on warfarin dose requirement. Warfarin being a substrate for drug transporter, P-glycoprotein coded by ABCB1 gene, may also be influenced by its genetic polymorphisms. This study was aimed to study the effect of single nucleotide polymorphism (SNP), ABCB1 2677G > T on warfarin maintenance dose requirement in patients with steady-state International Normalized Ratio (INR). The median dose requirement was significantly different between the genotype groups GG vs. GT (35 ± 20; 42.5 ± 18, p < 0.05), GG vs. TT (35 ± 20; 41.25 ± 25, p<0.05). There was no significant difference between GT vs. TT. In conclusion, patients with variant allele require a higher weekly maintenance dose of warfarin compared to patients without variant allele.

Keywords: warfarin pharamcogenetics, pharmacogenomics of warfarin, ABCB1 and warfarin, pglycoprotein and warfarin

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Authors: Damaris Estrella Castillo, Zacil ha Vilchis Zapata, Leydi Peraza Gómez

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Hearing loss is an etiologically heterogeneous condition, where almost 60% is genetic in origin, 20% is due to environmental factors, and 20% have unknown causes. However, it is now known that the gene, GJB2, which encodes the connexin 26 protein, accounts for a large percentage of non-syndromic genetic hearing loss, and variants in this gene have been identified to be a common cause of hereditary hearing loss in many populations. The literature reports that the etiology in deafness helps improve family functioning but low-income countries this is difficult. Therefore, it is difficult to contribute the right of families to know about the genetic risk in future pregnancies as well as determining the certainty of being a carrier or affected. In order to assess the impact of genetic counseling and the functionality, 100 families with at least one child with profound hearing loss, were evaluated by specialists in audiology, clinical genetics and psychology. Targeted mutation analysis for one of the two known large deletions of upstream of GJB2/GJB6 gene (35delG; and including GJB2 regulatory sequences and GJB6) were performed in patients with diagnosis of non-syndromic hearing loss. Genetic counseling was given to all parents and primary caregivers, and APGAR family test was applied before and after the counseling. We analyzed a total of 300 members (children, parents) to determine the presence of the GJB2 gene mutation. Twelve patients (carriers and affected) were positive for the mutation, from 5 different families. The subsequent family APGAR testing and genetic counseling, showed that 14% perceived their families as functional, 62 % and 24 % moderately functional dysfunctional. This shows the importance of genetic counseling in the perception of family function that can directly impact the quality of life of these families.

Keywords: family dynamics, deafness, APGAR, counseling

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Authors: Bin Mu, Site Li, Shijin Yuan

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Under the circumstance of environment deterioration, people are increasingly concerned about the quality of the environment, especially air quality. As a result, it is of great value to give accurate and timely forecast of AQI (air quality index). In order to simplify influencing factors of air quality in a city, and forecast the city’s AQI tomorrow, this study used MATLAB software and adopted the method of constructing a mathematic model of PCA-GABP to provide a solution. To be specific, this study firstly made principal component analysis (PCA) of influencing factors of AQI tomorrow including aspects of weather, industry waste gas and IAQI data today. Then, we used the back propagation neural network model (BP), which is optimized by genetic algorithm (GA), to give forecast of AQI tomorrow. In order to verify validity and accuracy of PCA-GABP model’s forecast capability. The study uses two statistical indices to evaluate AQI forecast results (normalized mean square error and fractional bias). Eventually, this study reduces mean square error by optimizing individual gene structure in genetic algorithm and adjusting the parameters of back propagation model. To conclude, the performance of the model to forecast AQI is comparatively convincing and the model is expected to take positive effect in AQI forecast in the future.

Keywords: AQI forecast, principal component analysis, genetic algorithm, back propagation neural network model

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Authors: Iman Farasat, Howard M. Salis

Abstract:

Engineered genetic circuits reprogram cellular behavior to act as living computers with applications in detecting cancer, creating self-controlling artificial tissues, and dynamically regulating metabolic pathways. Phenemenological models are often used to simulate and design genetic circuit behavior towards a desired behavior. While such models assume that each circuit component’s function is modular and independent, even small changes in a circuit (e.g. a new promoter, a change in transcription factor expression level, or even a new media) can have significant effects on the circuit’s function. Here, we use statistical thermodynamics to account for the several factors that control transcriptional regulation in bacteria, and experimentally demonstrate the model’s accuracy across 825 measurements in several genetic contexts and hosts. We then employ our first principles model to design, experimentally construct, and characterize a family of signal amplifying genetic circuits (genetic OpAmps) that expand the dynamic range of cell sensors. To develop these models, we needed a new approach to measuring the in vivo binding free energies of transcription factors (TFs), a key ingredient of statistical thermodynamic models of gene regulation. We developed a new high-throughput assay to measure RNA polymerase and TF binding free energies, requiring the construction and characterization of only a few constructs and data analysis (Figure 1A). We experimentally verified the assay on 6 TetR-homolog repressors and a CRISPR/dCas9 guide RNA. We found that our binding free energy measurements quantitatively explains why changing TF expression levels alters circuit function. Altogether, by combining these measurements with our biophysical model of translation (the RBS Calculator) as well as other measurements (Figure 1B), our model can account for changes in TF binding sites, TF expression levels, circuit copy number, host genome size, and host growth rate (Figure 1C). Model predictions correctly accounted for how these 8 factors control a promoter’s transcription rate (Figure 1D). Using the model, we developed a design framework for engineering multi-promoter genetic circuits that greatly reduces the number of degrees of freedom (8 factors per promoter) to a single dimensionless unit. We propose the Ptashne (Pt) number to encapsulate the 8 co-dependent factors that control transcriptional regulation into a single number. Therefore, a single number controls a promoter’s output rather than these 8 co-dependent factors, and designing a genetic circuit with N promoters requires specification of only N Pt numbers. We demonstrate how to design genetic circuits in Pt number space by constructing and characterizing 15 2-repressor OpAmp circuits that act as signal amplifiers when within an optimal Pt region. We experimentally show that OpAmp circuits using different TFs and TF expression levels will only amplify the dynamic range of input signals when their corresponding Pt numbers are within the optimal region. Thus, the use of the Pt number greatly simplifies the genetic circuit design, particularly important as circuits employ more TFs to perform increasingly complex functions.

Keywords: transcription factor, synthetic biology, genetic circuit, biophysical model, binding energy measurement

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Authors: J. Vinay , Kusumbati Besra, Niharika Pattnaik, Shivaram Prasad Singh, Manjusha Dixit

Abstract:

Gallbladder cancer (GBC) is rare but highly malignant cancer; its prevalence is more in certain geographical regions and ethnic groups, which include the Northern and Eastern states of India. Previous studies in India have reported genetic predisposition as one of the risk factors in GBC pathogenesis. Although the matrix metalloproteinase-14 (MMP14) is a well-known modulator of the tumor microenvironment and tumorigenesis and TCGA data also suggests its upregulation yet, its role in the genetic predisposition for GBC is completely unknown. We elucidated the role of MMP14 promoter variants as genetic risk factors and their implications in expression modulation. We screened MMP14 promoter variants association with GBC using Sanger’s sequencing in approximately 300 GBC and 300 control subjects and 26 GBC tissue samples of Indian ethnicity. The immunohistochemistry was used to check the MMP14 protein expression in GBC tissue samples. The role of promoter variants on expression levels was elucidated using a luciferase reporter assay. The variants rs1004030 (p-value = 0.0001) and rs1003349 (p-value = 0.0008) were significantly associated with gallbladder cancer. The luciferase assay in two different cell lines, HEK-293 (p = 0.0006) and TGBC1TKB (p = 0.0036) showed a significant increase in relative luciferase activity in the presence of risk alleles for both the single nucleotide polymorphisms (SNPs). Similarly, genotype-phenotype correlation in patients samples confirmed that the presence of risk alleles at rs1004030 and rs1003349 increased MMP14 expression. Overall, this study unravels the genetic association of MMP14 promoter variants with gallbladder cancer, which may contribute to pathogenesis by increasing its expression.

Keywords: gallbladder cancer, matrix metalloproteinase-14, single nucleotide polymorphism, case control study, genetic association study

Procedia PDF Downloads 179