Search results for: population genetic

Authors: Farhad Nouparast

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

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

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Authors: Sonia Tamanna, Akramul Hassan, Mohammad Shakil Mahmood, Farzana Ansari, Gowhar Rashid, Mir Fahim Faisal, M. Zakir Hossain Howlader

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Background: Preeclampsia (PE), a pregnancy-specific hypertensive disorder, significantly impacts maternal and fetal health. It is particularly prevalent in underdeveloped countries and is linked to preterm delivery and fetal growth. The renin-angiotensin system (RAS) plays a crucial role in ensuring a successful pregnancy outcome, with Angiotensin-Converting Enzyme 2 (ACE2) being a key component. ACE2 converts ANG II to Ang-(1-7), offering protection against ANG II-induced stress and inflammation while regulating blood pressure and osmotic balance during pregnancy. The reduced maternal plasma angiotensin-converting enzyme 2 (ACE2) seen in preeclampsia might contribute to its pathogenesis. However, there has been a dearth of comprehensive research into the association between ACE2 gene polymorphism and preeclampsia. In the South Asian population, hypertension is strongly linked to two SNPs: rs2285666 and rs879922. This genotype was therefore considered, and the possible association of maternal and fetal ACE2 gene polymorphism with preeclampsia within the Bangladeshi population was evaluated. Method: DNA was extracted from peripheral white blood cells (WBCs) using the organic method, and SNP genotyping was done via PCR-RFLP. Odds ratios (OR) with 95% confidence intervals (95% CI) were calculated using logistic regression to determine relative risk. Result: A comprehensive case-control study was conducted on 51 PE patients and their infants, along with 56 control subjects and their infants. Maternal single nuvleotide polymorphisms (SNP) (rs2285666) analysis revealed a strong association between the TT genotype and preeclampsia, with a four-fold increased risk in mothers (P=0.024, OR=4.00, 95% CI=1.36-11.37) compared to their ancestral genotype CC. However, the CT genotype (rs2285666) showed no significant difference (P=0.46, OR=1.54, 95% CI=0.57-4.14). Notably, no significant correlation was found in infants, regardless of their gender. For rs879922, no significant association was observed in both mothers and infants. This pioneering study suggests that mothers carrying the ACE2 gene variant rs2285666 (TT allele) may be at higher risk for preeclampsia, potentially influencing hypertension characteristics, whereas rs879922 does not appear to be associated with developing preeclampsia. Conclusion: This study sheds light on the role of ACE2 gene polymorphism, particularly the rs2285666 TT allele, in maternal susceptibility to preeclampsia. However, rs879922 does not appear to be linked to the risk of PE. This research contributes to our understanding of the genetic underpinnings of preeclampsia, offering insights into potential avenues for prevention and management.

Keywords: ACE2, PCR-RFLP, preeclampsia, single nuvleotide polymorphisms (SNPs)

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Authors: Bedilu Tafesse

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Home gardens are important social and cultural spaces where knowledge related to agricultural practice is transmitted and through which households may improve their income and livelihood. High levels of inter- and intra-specific plant genetic diversity are preserved in home gardens. Plant diversity is threatened by rapid and unplanned urbanization, which increases environmental problems such as heating, pollution, loss of habitats and ecosystem disruption. Tropical home gardens have played a significant role in conserving plant diversity while providing substantial benefits to households. This research aimed to understand the relationship between household characteristics and plant diversity in western Ethiopia home gardens and the contributions of plants to the household economy. Plant diversity and different uses of plants were studied in a random sample of 111 suburban home gardens in the Ilu Ababora, Jima and Wellega suburban area, western Ethiopia, based on complete garden inventories followed by household surveys on socio-economic status during 2012. A total of 261 species of plants were observed, of which 41% were ornamental plants, 36% food plants, and 22% medicinal plants. Of these 16% were sold commercially to produce income. Avocado, bananas, and other fruits produced in excess. Home gardens contributed the equivalent of 7% of total annual household income in terms of food and commercial sales. Multiple regression analysis showed that education, time spent in gardening, land for cultivation, household expenses, primary conservation practices, and uses of special techniques explained 56% of the total plant diversity. Food, medicinal and commercial plant species had significant positive relationships with time spent gardening and land area for gardening. Education and conservation practices significantly affected food and medicinal plant diversity. Special techniques used in gardening showed significant positive relations with ornamental and commercial plants. Reassessments in different suburban and urban home gardens and proper documentation using same methodology is essential to build a firm policy for enhancing plant diversity and related values to households and surroundings.

Keywords: plant genetic diversity, urbanization, suburban home gardens, Ethiopia

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Authors: Amean A. Yasir, Zainab Kh. A. Al-Mahdi Al-Amean

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In both developed and developing countries, obesity among women is increasing, but in different patterns and at very different speeds. It may have a negative effect on health, leading to reduced life expectancy and/or increased health problems. This research studied the age distribution among obese women, the types of overweight and obesity, and the extent of the problem of overweight/obesity and the obesity etiological factors among women in Hillah city in central Iraq. A total of 322 overweight and obese women were included in the study, those women were randomly selected. The Body Mass Index was used as indicator for overweight/ obesity. The incidence of overweight/obesity among age groups were estimated, the etiology factors included genetic, environmental, genetic/environmental and endocrine disease. The overweight and obese women were screened for incidence of infection and/or diseases. The study found that the prevalence of 322 overweight and obese women in Hillah city in central Iraq was 19.25% and 80.78%, respectively. The obese women types were recorded based on BMI and WHO classification as class-1 obesity (29.81%), class-2 obesity (24.22%) and class-3 obesity (26.70%), the result was discrepancy non-significant, P value < 0.05. The incidence of overweight in women was high among those aged 20-29 years (90.32%), 6.45% aged 30-39 years old and 3.22% among ≥ 60 years old, while the incidence of obesity was 20.38% for those in the age group 20-29 years, 17.30% were 30-39 years, 23.84% were 40-49 years, 16.92% were 50-59 years group and 21.53% were ≥ 60 years age group. These results confirm that the age can be considered as a significant factor for obesity types (P value < 0.0001). The result also showed that the both genetic factors and environmental factors were responsible for incidents of overweight or obesity (84.78%) p value < 0.0001. The results also recorded cases of different repeated infections (skin infection, recurrent UTI and influenza), cancer, gallstones, high blood pressure, type 2 diabetes, and infertility. Weight stigma and bias generally refers to negative attitudes; Obesity can affect quality of life, and the results of this study recorded depression among overweight or obese women. This can lead to sexual problems, shame and guilt, social isolation and reduced work performance. Overweight and Obesity are real problems among women of all age groups and is associated with the risk of diseases and infection and negatively affects quality of life. This result warrants further studies into the prevalence of obesity among women in Hillah City in central Iraq and the immune response of obese women.

Keywords: obesity, overweight, Iraq, body mass index

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Authors: Yuzuru Mitsui, Takashi Ikegami

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The exponents of Taylor’s law in deterministic chaotic systems are computed, and their meanings are intensively discussed. Taylor’s law is the scaling relationship between the mean and variance (in both space and time) of population abundance, and this law is known to hold in a variety of ecological time series. The exponents found in the temporal Taylor’s law are different from those of the spatial Taylor’s law. The temporal Taylor’s law is calculated on the time series from the same locations (or the same initial states) of different temporal phases. However, with the spatial Taylor’s law, the mean and variance are calculated from the same temporal phase sampled from different places. Most previous studies were done with stochastic models, but we computed the temporal and spatial Taylor’s law in deterministic systems. The temporal Taylor’s law evaluated using the same initial state, and the spatial Taylor’s law was evaluated using the ensemble average and variance. There were two main discoveries from this work. First, it is often stated that deterministic systems tend to have the value two for Taylor’s exponent. However, most of the calculated exponents here were not two. Second, we investigated the relationships between chaotic features measured by the Lyapunov exponent, the correlation dimension, and other indexes with Taylor’s exponents. No strong correlations were found; however, there is some relationship in the same model, but with different parameter values, and we will discuss the meaning of those results at the end of this paper.

Keywords: chaos, density effect, population dynamics, Taylor’s law

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Authors: Elchin Hajiyev, Afet Memmedova Dadash, Sabina Hajiyeva, Aynur Karimova, Ramiz Aliyev

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Although potatoes have a wide distribution range, the yield potential of varieties varies greatly depending on the region. Our country is made up of agricultural regions with very different environmental characteristics.In this case, we cannot expect the introduced varieties to show the same adaptation to the different conditions of our country. For this reason, in our country, varieties with high general adaptability should be used, rather than varieties with special adaptability in certain areas. Soil salinization has become a global problem.Increased salinity has a serious impact on food security by reducing plant productivity. Plants have protective mechanisms of adaptation to salt stress, such as the synthesis of physiologically active substances, resistance to antioxidant stress and oxidation of membrane lipids. One of these substances is free proline. Our study revealed genetic variation in proline accumulation among samples exposed to stress factors.Changes in proline content under stress conditions were studied in 50 samples. There was wide variation across all treatments.The amount of proline varied between 7.2–37.7 μM/g under salinity conditions.The lowest rate was in the SF33 genotype (1.5 times more than the control (2.5 μM/g)).The highest level of proline under the influence of salt stress was in the SF45 genotype (7.25 times higher than the control (32.5 μM/g)). Our studies have found that the protective system reacts differently to the influence of stress factors. According to the results obtained on the amount of proline, adaptation mechanisms must be more actively activated to maintain metabolism and ensure viability in sensitive forms under the influence of stress factors. At high doses of the salt stressor, a tenfold increase in proline compared to the control indicates significant damage to the plant organism as a result of stress.To prevent damage to the body, the antioxidant system needs to quickly mobilize and work at full capacity in adverse conditions. An increase in the dose of the stress factor salt in our study caused a greater increase in the amount of free proline in plant tissues. Considering the functions of proline as an osmoprotector and antioxidant, it was found that increasing its amount is aimed at protecting the plant from the acute effects of stressors.

Keywords: genetic variability, potato, genotypes, proline, stress

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Authors: Maria Lucia G. Lourenco, Keylla H. N. P. Pereira, Viviane Y. Hibaru, Fabiana F. Souza, Joao C. P. Ferreira, Simone B. Chiacchio, Luiz H. A. Machado

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Congenital malformations are organ defects due to genetic or teratogenic causes, which can lead to high mortality in dog litters. This study assessed and described the congenital malformations in newborn dogs. The study included litters attend in the São Paulo State University (UNESP) Veterinary Hospital, Botucatu, Sao Paulo, Brazil. One hundred seventy-eight litters and 803 newborns were evaluated. The occurrence of litters with malformations was 24.7%, and of newborns was 6.7%. Twenty-seven different malformations were registered: anasarca, anal atresia, cleft lip, cleft palate, duplicated right ribcage, equinovarus, exencephaly, gastroschisis, hydrocephaly, lissencephaly, macroglossia, microphthalmia, mitral valve dysplasia, omphalocele, eyelid agenesis, persistent urachus, polydactyly, pulmonary hypoplasia, pulmonary valve stenosis, rectovaginal fistula, agenesis of abdominal muscles, rib hypoplasia, scoliosis, segmental aplasia of the intestines, tricuspid valve dysplasia, unilateral kidney agenesis, and vaginal atresia. 68.7% of newborns died as a result of malformations. The pure breeds with the highest chances of manifesting malformations in contrast with mixed breeds were French Bulldog, Pug, English Bulldog, Rottweiler, German Spitz, Pinscher, Pitbull, Yorkshire Terrier, and Shih-Tzu. Significant values (P<0.05) occurred in races French Bulldogs and Pugs. The causes of congenital disabilities are possibly related to hereditary genetic factors considering that the highest incidence of malformations was observed among purebreds. There as one case of exposure to a teratogenic agent, but no other mothers were exposed to such agents during pregnancy. Two cases of consanguineal breeding between siblings were reported. The mortality rate was high. Genetic breeding programs for reproduction, avoiding consanguineous mating, care in choosing parents, and avoiding maternal exposure to teratogenic agents are of utmost importance in reducing dog malformations and consequent mortality.

Keywords: congenital defects, teratogenesis, canine neonatology, newborn puppy

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Authors: Michael Josef Schwerer

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Background: Analyzing any aircraft accident is mandatory based on the regulations of the International Civil Aviation Organization and the respective country’s criminal prosecution authorities. Legal medicine investigations are unavoidable when fatalities involve the flight crew or when doubts arise concerning the pilot’s aeromedical health status before the event. As a result of frequently tremendous blunt and sharp force trauma along with the impact of the aircraft to the ground, consecutive blast or fire exposition of the occupants or putrefaction of the dead bodies in cases of delayed recovery, relevant findings can be masked or destroyed and therefor being inaccessible in standard pathology practice comprising just forensic autopsy and histopathology. Such cases are of considerable risk of remaining unsolved without legal consequences for those responsible. Further, no lessons can be drawn from these scenarios to improve flight safety and prevent future mishaps. Aims and Methods: To learn from previously unsolved aircraft accidents, re-evaluations of the investigation files and modern molecular pathology studies were performed. Genetic testing involved predominantly PCR-based analysis of gene regulation, studying DNA promotor methylations, RNA transcription and posttranscriptional regulation. In addition, the presence or absence of infective agents, particularly DNA- and RNA-viruses, was studied. Technical adjustments of molecular genetic procedures when working with archived sample material were necessary. Standards for the proper interpretation of the respective findings had to be settled. Results and Discussion: Additional molecular genetic testing significantly contributes to the quality of forensic pathology assessment in aviation mishaps. Previously undetected cardiotropic viruses potentially explain e.g., a pilot’s sudden incapacitation resulting from cardiac failure or myocardial arrhythmia. In contrast, negative results for infective agents participate in ruling out concerns about an accident pilot’s fitness to fly and the aeromedical examiner’s precedent decision to issue him or her an aeromedical certificate. Care must be taken in the interpretation of genetic testing for pre-existing diseases such as hypertrophic cardiomyopathy or ischemic heart disease. Molecular markers such as mRNAs or miRNAs, which can establish these diagnoses in clinical patients, might be misleading in-flight crew members because of adaptive changes in their tissues resulting from repeated mild hypoxia during flight, for instance. Military pilots especially demonstrate significant physiological adjustments to their somatic burdens in flight, such as cardiocirculatory stress and air combat maneuvers. Their non-pathogenic alterations in gene regulation and expression will likely be misinterpreted for genuine disease by inexperienced investigators. Conclusions: The growing influence of molecular pathology on legal medicine practice has found its way into aircraft accident investigation. As appropriate quality standards for laboratory work and data interpretation are provided, forensic genetic testing supports the medico-legal analysis of aviation mishaps and potentially reduces the number of unsolved events in the future.

Keywords: aviation medicine, aircraft accident investigation, forensic pathology, molecular pathology

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Authors: Yusuf Jundi Sado

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Changes in land use are mostly credited to human actions that result in negative impacts on biodiversity and ecosystem functions. This study aims to analyze the dynamics of land use and land cover changes for sustainable natural resources planning and management. Chilalo-Galama Mountain Range, Ethiopia. This study used Thematic Mapper 05 (TM) for 1986, 2001 and Landsat 8 (OLI) data 2017. Additionally, data from the Central Statistics Agency on human population growth were analyzed. Semi-Automatic classification plugin (SCP) in QGIS 3.2.3 software was used for image classification. Global positioning system, field observations and focus group discussions were used for ground verification. Land Use Land Cover (LU/LC) change analysis was using maximum likelihood supervised classification and changes were calculated for the 1986–2001 and the 2001–2017 and 1986-2017 periods. The results show that agricultural land increased from 27.85% (1986) to 44.43% and 51.32% in 2001 and 2017, respectively with the overall accuracies of 92% (1986), 90.36% (2001), and 88% (2017). On the other hand, forests decreased from 8.51% (1986) to 7.64 (2001) and 4.46% (2017), and grassland decreased from 37.47% (1986) to 15.22%, and 15.01% in 2001 and 2017, respectively. It indicates for the years 1986–2017 the largest area cover gain of agricultural land was obtained from grassland. The matrix also shows that shrubland gained land from agricultural land, afro-alpine, and forest land. Population dynamics is found to be one of the major driving forces for the LU/LU changes in the study area.

Keywords: Landsat, LU/LC change, Semi-Automatic classification plugin, population dynamics, Ethiopia

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Authors: Saira Mehnaz, Ali Jafar Abedi, Shazia Farooq Fazli, Sakeena Mushfiq, Zulfia Khan, M. Athar Ansari

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Introduction: Public health spending is a necessity in an underdeveloped country like India. The people are already suffering from poverty and that clubbed with out of pocket expenditure leads them to a very catastrophic situation, reducing the overall access to healthcare. Objectives: This study was designed to determine the usual source of medical care opted, the illness pattern, the expenditure incurred on illness and its source of procurement by the study population. It also intended to assess this expenditure as a determinant of access to health care. Methodology: Cities like Aligarh, which are classified as B grade cities in India are thought to be ripe sites for getting livelihood and hence are almost half filled with migrants living in urban slums. A cross sectional study was done to study the newer slum pockets. 3409 households with a population of 16,978 were studied with the help of pretested questionnaire; SPSS 20 was used for statistical analysis. Results and Conclusions: In our study, we found that almost all the households suffered from catastrophic health expenditure. The study population, which was already vulnerable owing to their low socio-economic and migrant status was further being forced with into poverty and indebtedness on account of expenditure on illness. This lead to a significant decrease in access to health. National health financing systems should be designed to protect households from financial catastrophe, by reducing out-of-pocket spending.

Keywords: access to healthcare, catastrophic health expenditure, new urban slums, out of pocket expenditure

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Authors: Anjali N. Shete, G. D. Mahajan, Nanda Somwanshi

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Context: Smartphones are the new generation of mobile phones; they have emerged over the last few years. Technology has developed so much that it has become part of our life and mobile phones are one of them. These smartphones are equipped with the capabilities to display photos, play games, watch videos and navigation, etc. The advances have a huge impact on many walks of life. The adoption of new technology has been challenging for the elderly. But, the elder population is also moving towards digitally connected lives. As age advances, there is a decline in the motor and cognitive functions of the brain, and hence the reaction time is affected. The study was undertaken to assess the usefulness of smartphones in improving cognitive functions. Aims and Objectives: The aim of the study was to observe the effects of smartphone addiction on reaction time in elderly population Material and Methods: This is an experimental study. 100 elderly subjects were enrolled in this study randomly from urban areas. They all were using smartphones for several hours a day. They were divided into two groups according to the scores of the mobile phone addiction scale (MPAS). Simple reaction time was estimated by the Ruler drop method. The reaction time was then calculated for each subject in both groups. The data were analyzed using mean, standard deviation, and Pearson correlation test. Results: The mean reaction time in Group A is 0.27+ 0.040 and in Group B is 0.20 + 0.032. The values show a statistically significant change in reaction time. Conclusion: Group A with a high MPAS score has a low reaction time compared to Group B with a low MPAS score. Hence, it can be concluded that the use of smartphones in the elderly is useful, delaying the neurological decline, and smarten the brain.

Keywords: smartphones, MPAS, reaction time, elderly population

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Authors: Lee Cahaner, Nissim Leon

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The segregation of populations is one of the main axes in the research of urban geography, which refers to the spatial and functional relationships between settlements. In Israel, this phenomenon has its unique expression in the spatial processes concerning the ultra-orthodox population. This population holds a set of interactions within itself as well as with the non-orthodox surrounding population because of historical and contemporary motivations on its which strength depends on its homogeneousness and separation. Its demographic growth rate and the internal social processes that the ultra-orthodox society undergoes create a new image of the ultra-orthodox concentration and its location in the Israeli space. The goals of the present study have also been defined with the express intention of filling the scholarly vacuum noted above: firstly, to discuss the development of the Israeli ultra-Orthodox sector’s hierarchical and spatial structure as of 2015, in light of the principles and mechanisms that guide it and vis-à-vis the general population’s hierarchical locality system; secondly, to map Israel’s ultra-Orthodox population, with attention to its physical boundaries, its subdivisions (Hassidic, Lithuanian, Sephardic) and the geographical and demographic processes that have characterized it in recent years; and thirdly, to shed light on the interactions between ultra-Orthodox localities via several different parameters, e.g. migration, education, transportation, employment, consumerism and community services. In order to understand the changes in ultra-Orthodox geographic distribution and the social processes that these changes have generated, a number of research activities were conducted during the course of this study− notably, gathering and assembling material from earlier academic studies, newspaper advertisements, state and private archives; in-depth interviews with major figures in the ultra-Orthodox community and others who come into contact with it; tours of the core areas of ultra-Orthodox settlement; and gathering quantitative and qualitative data from the statistical reports of governmental and other bodies. In addition, a multi-participant (2400-respondent) quantitative survey was conducted among residents of the new ultra-Orthodox cities, designed to elucidate the attributes and spatial attitudes of the residents− as a means of tracing and understanding this new settlement pattern within ultra-Orthodox space. A major portion of the quantitative and qualitative material was processed to form a system of maps that visually describe the distribution of Israel’s ultra-Orthodox population.

Keywords: migration, new cities, segregation, ultra-orthodox

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Authors: P. Suresh, K. Gunasekaran, R. Thanigaivelan

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Radio frequency identification (RFID) technology has been attracting considerable attention with the expectation of improved supply chain visibility for consumer goods, apparel, and pharmaceutical manufacturers, as well as retailers and government procurement agencies. It is also expected to improve the consumer shopping experience by making it more likely that the products they want to purchase are available. Recent announcements from some key retailers have brought interest in RFID to the forefront. A modified K- Means Cluster based Heuristic approach, Hybrid Genetic Algorithm (GA) - Simulated Annealing (SA) approach, Hybrid K-Means Cluster based Heuristic-GA and Hybrid K-Means Cluster based Heuristic-GA-SA for Open Loop Supply Chain Network problem are proposed. The study incorporated uniform crossover operator and combined crossover operator in GAs for solving open loop supply chain distribution network problem. The algorithms are tested on 50 randomly generated data set and compared with each other. The results of the numerical experiments show that the Hybrid K-means cluster based heuristic-GA-SA, when tested on 50 randomly generated data set, shows superior performance to the other methods for solving the open loop supply chain distribution network problem.

Keywords: RFID, supply chain distribution network, open loop supply chain, genetic algorithm, simulated annealing

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Authors: Xiaolian Jiang, Dongling Liu, Kun Liu

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Aims: To examine the prevalence of POST-TRAUMATIC STRESS DISORDER (PTSD) symptoms among Tibetan adolescents in heavily-hit disaster area three years after Yushu earthquake, and to explore the interactions of the psycho-social-genetic risk factors. Methods: This was a three-stage study. Firstly, demographic variables，PTSD Checklist-Civilian Version （PCL-C），the Internality、Powerful other、Chance Scale，（IPC），Coping Style Scale（CSS），and the Social Support Appraisal（SSA）were used to explore the psychosocial factors of PTSD symptoms among adolescent survivors. PCL-C was used to examine the PTSD symptoms among 4072 Tibetan adolescents，and the Structured Clinical Interview for DSM-IV Disorders（SCID）was used by psychiatrists to make the diagnosis precisely. Secondly，a case-control trial was used to explore the relationship between PTSD and gene polymorphisms. 287adolescents diagnosed with PTSD were recruited in study group, and 280 adolescents without PTSD in control group. Polymerase chain reaction-restriction fragment length polymorphism technology（PCR-RFLP）was used to test gene polymorphisms. Thirdly，SPSS 22.0 was used to explore the interactions of the psycho-social-genetic risk factors of PTSD on the basis of the above results. Results and conclusions: 1．The prevalence of PTSD was 9.70%. 2．The predictive psychosocial factors of PTSD included earthquake exposure, support from others, imagine, abreact, tolerant, powerful others and family support. 3．Synergistic interactions between A1 gene of DRD2 TaqIA and the external locus of control, negative coping style, severe earthquake exposure were found. Antagonism interactions between A1 gene of DRD2 TaqIA and poor social support was found. Synergistic interactions between A1/A1 genotype and the external locus of control, negative coping style were found. Synergistic interactions between 12 gene of 5-HTTVNTR and the external locus of control, negative coping style, severe earthquake exposure were found. Synergistic interactions between 12/12 genotype and the external locus of control, negative coping style, severe earthquake exposure were also found.

Keywords: adolescents, earthquake, PTSD, risk factors

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Authors: Gachara Grace, Kebira Anthony, Harvey Jagger, Wainaina James

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Aflatoxin contamination of maize in Africa poses a major threat to food security and the health of many African people. In Kenya, aflatoxin contamination of maize is high due to the environmental, agricultural and socio-economic factors. Many studies have been conducted to understand the scope of the problem, especially at pre-harvest level. This research was carried out to gather scientific information on the fungi population, diversity and aflatoxin level during the post-harvest period. The study was conducted in three geographical locations of; Kitui, Kitale and Nakuru. Samples were collected from storage structures of farmers and transported to the Biosciences eastern and central Africa (BecA), International Livestock and Research Institute (ILRI) hub laboratories. Mycoflora was recovered using the direct plating method. A total of five fungal genera (Aspergillus, Penicillium, Fusarium, Rhizopus and Bssyochlamys spp.) were isolated from the stored maize samples. The most common fungal species that were isolated from the three study sites included A. flavus at 82.03% followed by A.niger and F.solani at 49% and 26% respectively. The aflatoxin producing fungi A. flavus was recovered in 82.03% of the samples. Aflatoxin levels were analysed on both the maize samples and in vitro. Most of the A. flavus isolates recorded a high level of aflatoxin when they were analysed for presence of aflatoxin B1 using ELISA. In Kitui, all the samples (100%) had aflatoxin levels above 10ppb with a total aflatoxin mean of 219.2ppb. In Kitale, only 3 samples (n=39) had their aflatoxin levels less than 10ppb while in Nakuru, the total aflatoxin mean level of this region was 239.7ppb. When individual samples were analysed using Vicam fluorometer method, aflatoxin analysis revealed that most of the samples (58.4%) had been contaminated. The means were significantly different (p=0.00<0.05) in all the three locations. Genetic relationships of A. flavus isolates were determined using 13 Simple Sequence Repeats (SSRs) markers. The results were used to generate a phylogenetic tree using DARwin5 software program. A total of 5 distinct clusters were revealed among the genotypes. The isolates appeared to cluster separately according to the geographical locations. Principal Coordinates Analysis (PCoA) of the genetic distances among the 91 A. flavus isolates explained over 50.3% of the total variation when two coordinates were used to cluster the isolates. Analysis of Molecular Variance (AMOVA) showed a high variation of 87% within populations and 13% among populations. This research has shown that A. flavus is the main fungal species infecting maize grains in Kenya. The influence of aflatoxins on human populations in Kenya demonstrates a clear need for tools to manage contamination of locally produced maize. Food basket surveys for aflatoxin contamination should be conducted on a regular basis. This would assist in obtaining reliable data on aflatoxin incidence in different food crops. This would go a long way in defining control strategies for this menace.

Keywords: aflatoxin, Aspergillus flavus, genotyping, Kenya

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Authors: Abro Zain-Ul-Aabdin, Naheed Baloch, Khuhro Niaz Hussain, Waseem Akbar, Noor Abid Saeed

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The Melon Fruit Fly Bactrocera cucurbitae (Coq.) belongs to family: Tephritidae order: Diptera and is distributed throughout the vegetable growing areas of Pakistan. The B. cucurbitae is injurious pest of more than 125 species of the vegetables throughout the world. In the present studies we investigated the population of this important pest in cucurbit crops and influence of abiotic parameters such as: temperature, relative humidity and rainfall. The study was carried out at two different locations of District, Hyderabad. The locations were Jeay Shah and Dehli farm where three cucurbit vegetable crops, such as bottle gourd (Lagenaria siceraria), bitter gourd (Momordica charantia) and ridge gourd (Luffa acutangula) were grown. The traps were baited with Cue-lure and deployed at three meter height in the all locations from 01.01.2015 and up to 30.06.2015. Results revealed that overall significantly higher (P < 0.05) population was recorded on L.acutangula, M.charantia and L.siceraria (130.64, 127.21, and 122.91), respectively. However, significantly higher (P < 0.05) population was observed on L. acutangula (339.4±22.59) during the 4th week of May 2015 followed by M. charantia (334.6±22.76) L. siceraria (333.2±20.13). Whereas; lowest population was recorded on L. siceraria (5.8±1.39) followed by L. acutangula and M. charantia (6.8±0.80g, 8.0±1.30) respectively during the 4th week of January. The population of B. cucurbitae was significantly correlated with the temperature while negatively correlated with relative humidity. Meanwhile in the parasitism preference experiment pupal parasitoid Dirhinus giffardii showed significantly higher (P<0.05) parasitization when the pupae of B.cucurbitae were reared on Cucumber (Cucumis sativus) (24.8±0.48) and also female were yielded from pupae reared on C.sativus under no choice experiment. Similarly higher parasitization and female were recovered when pupae were supplied C. sativus under free choice experiment. Results of the present investigation would be useful in developing a sustainable pest management strategy in the vegetable agro-ecosystem.

Keywords: Dirhinus giffardii, Bactrocera cucurbitae Cucumis sativus, diptera, free choice, parasitization

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Authors: Asrat M.Belachew, Tiago Pereira, Institute of Mathematics, Computer Sciences, Avenida Trabalhador São Carlense, 400, São Carlos, 13566-590, Brazil

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Infectious diseases are among the most prominent threats to human beings. They cause morbidity and mortality to an individual and collapse the social, economic, and political systems of the whole world collectively. Mathematical models are fundamental tools and provide a comprehensive understanding of how infectious diseases spread and designing the control strategy to mitigate infectious diseases from the host population. Modeling the spread of infectious diseases using a compartmental model of inhomogeneous populations is good in terms of complexity. However, in the real world, there is a situation that accounts for heterogeneity, such as ages, locations, and contact patterns of the population which are ignored in a homogeneous setting. In this work, we study how classical an SEIR infectious disease spreading of the compartmental model can be extended by incorporating the mobility of population between heterogeneous cities during an outbreak of infectious disease. We have formulated an SEIR multi-cities epidemic spreading model using a system of 4k ordinary differential equations to describe the disease transmission dynamics in k-cities during the day and night. We have shownthat the model is epidemiologically (i.e., variables have biological interpretation) and mathematically (i.e., a unique bounded solution exists all the time) well-posed. We constructed the next-generation matrix (NGM) for the model and calculated the basic reproduction number R0for SEIR-epidemic spreading model with cities mobility. R0of the disease depends on the spectral radius mobility operator, and it is a threshold between asymptotic stability of the disease-free equilibrium and disease persistence. Using the eigenvalue perturbation theorem, we showed that sending a fraction of the population between cities decreases the reproduction number of diseases in interconnected cities. As a result, disease transmissiondecreases in the population.

Keywords: SEIR-model, mathematical model, city mobility, epidemic spreading

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Authors: Laura Sapranaviciute-Zabazlajeva, Abdonas Tamosiunas, Dalia Luksiene, Dalia Virviciute

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The cardiovascular diseases (CVD) is the leading cause of death in the EU, especially in the middle aged and elderly population. Psychological wellbeing (PWB) has been linked with better cardiovascular health and survival in the elderly. The aim of the study is to evaluate associations between CVD risk and PWB in middle-aged and elderly population. 10,940 middle aged and older Lithuanians of age 45-74 years, were invited to participate in the study. A study sample was a random and stratified by gender and age. In 2006-2008 7,087 responders participated in the survey, so the response rate was 64.8%. A follow-up study was conducted from 2006 till 2015. New CVD cases and deaths from CVD were evaluated using the Kaunas population-based CVD register and death register of Kaunas. Study results revealed that good PWB predicts longer life in female participants (Log Rank = 13.7, p < 0.001). In the fully adjusted model for socio-demographic, social and CVD risk factors, hazard ratio for CVD mortality risk was lower amongst women with good PWB (HR = 0.28, 95% CI 0.11-0.72), but not significantly for men. Our study concludes, that lower CVD mortality rates is being associated with better PWB in female aged 45-74 years.

Keywords: psychological well-being, cardiovascular disease, elderly, survival

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Authors: Savjot Kaur, Mridula Mahajan, AJS Bhanwer, Santokh Singh, Kawaljit Matharoo

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Background: Disorders of lipid metabolism and genetic predisposition are CAD risk factors. ApoA1 is the apolipoprotein component of anti-atherogenic high density lipoprotein (HDL) particles. The protective action of HDL and ApoA1 is attributed to their central role in reverse cholesterol transport (RCT). Aim: This study was aimed at identifying sequence variations in ApoA1 (-75G>A) and its association with serum ApoA1 levels. Methods: A total of 300 CAD patients and 300 Normal individuals (controls) were analyzed. PCR-RFLP method was used to determine the DNA polymorphism in the ApoA1 gene, PCR products digested with restriction enzyme MspI, followed by Agarose Gel Electrophoresis. Serum apolipoprotein A1 concentration was estimated with immunoturbidimetric method. Results: Deviation from Hardy- Weinberg Equilibrium (HWE) was observed for this gene variant. The A- allele frequency was higher among Coronary Artery disease patients (53.8) compared to controls (45.5), p= 0.004, O.R= 1.38(1.11-1.75). Under recessive model analysis (AA vs. GG+GA) AA genotype of ApoA1 G>A substitution conferred ~1 fold increased risk towards CAD susceptibility (p= 0.002, OR= 1.72(1.2-2.43). With serum ApoA1 levels < 107 A allele frequency was higher among CAD cases (50) as compared to controls (43.4) [p=0.23, OR= 1.2(0.84-2)] and there was zero % occurrence of A allele frequency in individuals with ApoA1 levels > 177. Conclusion: Serum ApoA1 levels were associated with ApoA1 promoter region variation and influence CAD risk. The individuals with the APOA1 -75 A allele confer excess hazard of developing CAD as a result of its effect on low serum concentrations of ApoA1.

Keywords: apolipoprotein A1 (G>A) gene polymorphism, coronary artery disease (CAD), reverse cholesterol transport (RCT)

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Authors: Dylan Santos De Pinho, Nabil Ouerhani

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Energy consumption of machine-tools is becoming critical for machine-tool builders and end-users because of economic, ecological and legislation-related reasons. Many machine-tool builders are seeking for solutions that allow the reduction of energy consumption of machine-tools while preserving the same productivity rate and the same quality of machined parts. In this paper, we present the first results of a project conducted jointly by academic and industrial partners to reduce the energy consumption of a Swiss-Type lathe. We employ genetic algorithms to find optimal machining parameters – the set of parameters that lead to the best trade-off between energy consumption, part quality and tool lifetime. Three main machining process parameters are considered in our optimization technique, namely depth of cut, spindle rotation speed and material feed rate. These machining process parameters have been identified as the most influential ones in the configuration of the Swiss-type machining process. A state-of-the-art multi-objective genetic algorithm has been used. The algorithm combines three fitness functions, which are objective functions that permit to evaluate a set of parameters against the three objectives: energy consumption, quality of the machined parts, and tool lifetime. In this paper, we focus on the investigation of the fitness function related to energy consumption. Four different energy consumption related fitness functions have been investigated and compared. The first fitness function refers to the Kienzle cutting force model. The second fitness function uses the Material Removal Rate (RMM) as an indicator of energy consumption. The two other fitness functions are non-deterministic, learning-based functions. One fitness function uses a simple Neural Network to learn the relation between the process parameters and the energy consumption from experimental data. Another fitness function uses Lasso regression to determine the same relation. The goal is, then, to find out which fitness functions predict best the energy consumption of a Swiss-Type machining process for the given set of machining process parameters. Once determined, these functions may be used for optimization purposes – determine the optimal machining process parameters leading to minimum energy consumption. The performance of the four fitness functions has been evaluated. The Tornos DT13 Swiss-Type Lathe has been used to carry out the experiments. A mechanical part including various Swiss-Type machining operations has been selected for the experiments. The evaluation process starts with generating a set of CNC (Computer Numerical Control) programs for machining the part at hand. Each CNC program considers a different set of machining process parameters. During the machining process, the power consumption of the spindle is measured. All collected data are assigned to the appropriate CNC program and thus to the set of machining process parameters. The evaluation approach consists in calculating the correlation between the normalized measured power consumption and the normalized power consumption prediction for each of the four fitness functions. The evaluation shows that the Lasso and Neural Network fitness functions have the highest correlation coefficient with 97%. The fitness function “Material Removal Rate” (MRR) has a correlation coefficient of 90%, whereas the Kienzle-based fitness function has a correlation coefficient of 80%.

Keywords: adaptive machining, genetic algorithms, smart manufacturing, parameters optimization

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Authors: B. Navidshad

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The main objective of this study was to examine the effects of enzymatic treatment and shell content of palm kernel expeller (PKE) on the ileal Lactobacilli and Escherichia coli populations in broiler chickens. At the finisher phase, one hundred male broiler chickens (Cobb-500) were fed a control diet or the diets containing 200 g/kg of normal PKE (70 g/kg shell), low shell PKE (30 g/kg shell), enzymatic treated PKE or low shell-enzymatic treated PKE. The quantitative real-time PCR were used to determine the ileal bacteria populations. The lowest ileal Lactobacilli population was found in the chickens fed the low shell PKE diet. Dietary normal PKE or low shell-enzymatic treated PKE decreased the Escherichia coli population compared to the control diet. The results suggested that PKE could be included up to 200 g/kg in the finisher diet, however, any screening practice to reduce the shell content of PKE without enzymatic degradation of β-mannan, decrease ileal Lactobacilli population.

Keywords: palm kernel expeller, exogenous enzyme, shell content, ileum bacteria, broiler chickens

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Authors: Seema Garcha, Sheetal Chopra, Navraj Sarao

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Plant hormones play a role in internal colonization by beneficial microbes and also systemic acquired resistance. They define qualitative and quantitative nature of root microbiome and also influence dynamics of root rhizospheric soil. The present study is an attempt to relate salicylic acid (signal molecule) content and qualitative nature of root endophytes at various stages in the growth of rice varieties of commercial value- Parmal 121 and Basmati 1121. Root seedlings of these varieties were raised using tissue culture techniques and then they were transplanted in the fields. Cultivation was done using conventional methods in agriculture. Field soil contained 0.39% N, 75.12 Kg/hectare of phosphorus and 163.0 Kg/hectare of potassium. Microfloral profiling of the root tissue was done using the selective microbiological medium. The salicylic acid content was estimated using HPLC-Agilent 1100 HPLC Series. Salicylic acid level of Basmati 1121 remained relatively low at the time of transplant and 90 days after transplant. It increased marginally at 60 days. A similar trend was observed with Parmal 121 as well. However, Parmal variety recorded 0.935 ug/g of salicylic acid at 60 days after transplant. Salicylic acid content decreased after 90 days as both the rice varieties remained disease free. The endophytic root microflora was established by 60 days after transplant in both the varieties after which their population became constant. Rhizobium spp dominated over Azotobacter spp. Genetic profiling of endophytes for nitrogen-fixing ability is underway.

Keywords: plant-microbe interaction, rice, root microbiome, salicylic acid

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Authors: Muhammad Jabbar

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In this paper we propose two ratio and ratio type exponential estimator for the estimation of population coefficient of variation using the auxiliary information under two-stage sampling. The properties of these estimators are derived up to first order of approximation. The efficiency conditions under which suggested estimator are more efficient, are obtained. Numerical and simulated studies are conducted to support the superiority of the estimators. Theoretically and numerically, we have found that our proposed estimator is always more efficient as compared to its competitor estimator.

Keywords: two-stage sampling, coefficient of variation, ratio type exponential estimator

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Authors: Fatou Cisse

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Depression is one of the most serious health problems experienced by immigrants and refugees, who are likely to undergo heightened political, economic, social, and environmental stressors as they transition to a new culture. The purpose of this literature review is to identify and compare risks associated with depression among young adult immigrants and refugees aged 18 to 25. Ten articles focused on risks associated with depression symptoms among this population were reviewed, revealing several common themes: Stress, identity, culture, language barriers, discrimination, social support, self-esteem, length of time in the receiving country, origins, or background. Existing research has failed to account adequately for sample size, language barriers, how the concept of "depression" differs across cultures, and stressors immigrants and refugees experience prior to the transition to the new culture. The study revealed that immigrants and refugees are at risk for depression and that the risk is greater in the refugee population due to their history of trauma. The Roy Adaptation Model was employed to understand the coping mechanisms that refugees and immigrants could use to reduce rates of depression. The psychiatric nurse practitioner must be prepared to intervene and educate this population on these coping mechanisms to help them overcome the feelings that lead to depression and facilitate a smooth integration into the new culture.

Keywords: immigration, refugees, depression, young adults

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Authors: Ogbonnaya O. Iroanya, Samson T. Fakorede, Osamudiamen J. Edosa, Hadiat A. Azeez

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The human mitochondrial DNA (mtDNA) is about 17 kbp circular DNA fragments found within the mitochondria together with smaller fragments of 1200 bp known as the control region. Knowledge of variation within populations has been employed in forensic and molecular anthropology studies. The study was aimed at investigating the polymorphic nature of the two hypervariable segments (HVS) of the mtDNA, i.e., HVS1 and HVS2, and to determine the haplogroup distribution among individuals resident in Lagos, Southwestern Nigeria. Peripheral blood samples were obtained from sixty individuals who are not related maternally, followed by DNA extraction and amplification of the extracted DNA using primers specific for the regions under investigation. DNA amplicons were sequenced, and sequenced data were aligned and compared to the revised Cambridge Reference Sequence (rCRS) GenBank Accession number: NC_012920.1) using BioEdit software. Results obtained showed 61 and 52 polymorphic nucleotide positions for HVS1 and HVS2, respectively. While a total of three indels mutation were recorded for HVS1, there were seven for HVS2. Also, transition mutations predominate nucleotide change observed in the study. Genetic diversity (GD) values for HVS1 and HVS2 were estimated to be 84.21 and 90.4%, respectively, while random match probability was 0.17% for HVS1 and 0.89% for HVS2. The study also revealed mixed haplogroups specific to the African (L1-L3) and the Eurasians (U and H) lineages. New polymorphic sites obtained from the study are promising for human identification purposes.

Keywords: hypervariable region, indels, mitochondrial DNA, polymorphism, random match probability

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Authors: Layla Mujahed

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Amman, the capital of Jordan, is the main political, economic, social and cultural center of Jordan and beyond. The city faces multitude demographic challenges related to the unstable political situation in the surrounded countries. It has regional and local migrants who left their homes to find better life in the capital. This resulted with random and unequaled population distribution. Some districts have high population and pressure on the infrastructure and services more than other districts.Government works to resolve this challenge in compliance with 100 Cities Resilience Framework (CRF). Amman participated in this framework as a member in December 2014 to work in achieving the four goals: health and welfare, infrastructure and utilities, economy and education as well as administration and government.  Previous research studies lack in studying Amman resilient work in neighborhood scale and the population growth as resilient challenge. For that, this study focuses on Al-Thahabiah neighborhood in Shafa Badran district in Amman. This paper studies the reasons and drivers behind this population growth during the selected period in this area then provide strategies to improve the resilient work in neighborhood scale. The methodology comprises of primary and secondary data. The primary data consist of interviews with chief officer in the executive part in Great Amman Municipality and resilient officer. The secondary data consist of papers, journals, newspaper, articles and book’s reading. The other part of data consists of maps and statistical data which describe the infrastructural and social situation in the neighborhood and district level during the studying period. Based upon those data, more detailed information will be found, e.g., the centralizing position of population and the provided infrastructure for them. This will help to provide these services and infrastructure to other neighborhoods and enhance population distribution. This study develops an analytical framework to assess urban demographical time series in accordance with the criteria of CRF to make accurate detailed projections on the requirements for the future development in the neighborhood scale and organize the human requirements for affordable quality housing, employment, transportation, health and education in this neighborhood to improve the social relations between its inhabitants and the community. This study highlights on the localization of resilient work in neighborhood scale and spread the resilient knowledge related to the shortage of its research in Jordan. Studying the resilient work from population growth challenge perspective helps improve the facilities provide to the inhabitants and improve their quality of life.

Keywords: city resilience framework, demography, population growth, stakeholders, urban resilience

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Authors: Anna Solovyeva, Ivan Levakin, Nickolai Galaktionov, Olga Podgornaya

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Animals that reproduce asexually were thought to have the same genotypes within generations for a long time. However, some refuting examples were found, and mobile genetic elements (MGEs) or transposons are considered to be the most probable source of genetic instability. Dispersed nature and the ability to change their genomic localization enables MGEs to be efficient mutators. Hence the study of MGEs genomic impact requires an appropriate object which comprehends both representative amounts of various MGEs and options to evaluate the genomic influence of MGEs. Animals that reproduce asexually seem to be a decent model to study MGEs impact in genomic variability. We found a small marine trematode Himasthla elongata (Himasthlidae) to be a good model for such investigation as it has a small genome size, diverse MGEs and parthenogenetic stages in the lifecycle. In the current work, clonal diversity of cercaria was traced with an AFLP (Amplified fragment length polymorphism) method, diverse zones from electrophoretic patterns were cloned, and the nature of the fragments explored. Polymorphic patterns of individual cercariae AFLP-based fingerprints are enriched with retrotransposons of different families. The bulk of those sequences are represented by open reading frames of non-Long Terminal Repeats containing elements(non-LTR) yet Long-Terminal Repeats containing elements (LTR), to a lesser extent in variable figments of AFLP array. The CR1 elements expose both in polymorphic and conservative patterns are remarkably more frequent than the other non-LTR retrotransposons. This data was confirmed with shotgun sequencing-based on Illumina HiSeq 2500 platform. Individual cercaria of the same clone (i.e., originated from a single miracidium and inhabiting one host) has a various distribution of MGE families detected in sequenced AFLP patterns. The most numerous are CR1 and RTE-Bov retrotransposons, typical for trematode genomes. Also, we identified LTR-retrotransposons of Pao and Gypsy families among DNA transposons of CMC-EnSpm, Tc1/Mariner, MuLE-MuDR and Merlin families. We detected many of them in H. elongata transcriptome. Such uneven MGEs distribution in AFLP sequences’ sets reflects the different patterns of transposons spreading in cercarial genomes as transposons affect the genome in many ways (ectopic recombination, gene structure interruption, epigenetic silencing). It is considered that they play a key role in the origins of trematode clonal polymorphism. The authors greatly appreciate the help received at the Kartesh White Sea Biological Station of the Russian Academy of Sciences Zoological Institute. This work is funded with RSF 19-74-20102 and RFBR 17-04-02161 grants and the research program of the Zoological Institute of the Russian Academy of Sciences (project number AAAA-A19-119020690109-2).

Keywords: AFLP, clonal polymorphism, Himasthla elongata, mobile genetic elements, NGS

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Authors: Yasaman Mohammadi

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Executive functions are a critical component of goal-directed behavior, encompassing a diverse set of cognitive processes such as working memory, cognitive flexibility, and inhibitory control. These functions are known to decline with age, but the precise mechanisms underlying this decline remain unclear. This paper provides an in-depth review of recent research investigating age-related changes in executive functions, drawing on insights from neuroimaging, genetics, and cognitive neuroscience. Through an interdisciplinary approach, this paper offers a nuanced understanding of the complex interplay between neural mechanisms, genetic factors, and cognitive processes that contribute to executive function decline in aging. Here, we investigate how different neuroimaging methods, like functional magnetic resonance imaging (fMRI) and positron emission tomography (PET), have helped scientists better understand the brain bases for age-related declines in executive function. Additionally, we discuss the role of genetic factors in mediating individual differences in executive functions across the lifespan, as well as the potential for cognitive interventions to mitigate age-related decline. Overall, this paper presents a comprehensive and integrative view of the current state of knowledge regarding age-related changes in executive functions. It underscores the need for continued interdisciplinary research to fully understand the complex and dynamic nature of executive function decline in aging, with the ultimate goal of developing effective interventions to promote healthy cognitive aging.

Keywords: executive functions, aging, neuroimaging, cognitive neuroscience, working memory, cognitive training

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Authors: Benoit Jauniaux, Azzam Ismail

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Objectives: The aims were to identify all incident adult cases of idiopathic inflammatory myopathies (IIMs) in the City of Leeds, UK, and to estimate the risk of cancer in IIMs as compared with the general population. Methods: Cases of IIMs were ascertained by review of all muscle biopsy reports from the Neuropathology Laboratory. A review of medical records was undertaken for each case to review the clinical diagnosis and collect epidemiological data such as age, ethnicity, sex, and comorbidities, including cancer. Leeds denominator population numbers were publicly obtainable. Results: Two hundred and six biopsy reports were identified, and after review, 50 incident cases were included in the study between June 2010 and January 2021. Out of the 50 cases, 27 were male, and 23 were female. The mean incidence rate of IIMs in Leeds throughout the study period was 7.42/1 000 000 person years. The proportion of IIMs cases with a confirmed malignancy was 22%. Compared to the general population, the relative risk of cancer was significantly greater in the IIMs population(31.56, P < 0.01). Conclusions: The incidence rate of IIMs in Leeds was consistent with data from previous literature, however, disagreement exists between different methods of IIMs case inclusion due to varying clinical criteria and definitions. IIMs are associated with increased risk of cancer however, the pathogenesis of this relationship still requires investigating. This study supports the practice of malignancy screening and long-term surveillance in patients with IIMs.

Keywords: idiopathic inflammatory myopathies, myositis, polymyositis, dermatomyositis, malignancy, epidemiology, incidence rate, relative risk

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Authors: Zerrin Orbak, Busra Demir

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Osteopetrosis is a rare genetic disease characterized by impaired bone resorption and increased bone sclerosis. Clinical presentation is very different in osteopetrosis. It can be asymptomatic or can be seen with typical symptoms. Here, a case of osteopetrosis was presented when evaluated for nystagmus. She was 10 months old. Parents were second-degree relatives. On physical examination, pigeon chest deformity and horizontal nystagmus were observed. There was a failure of thrive but no fracture. The cardiovascular examination was normal. Cranial, vertebral and long bone roentgenograms revealed characteristic deformities of osteopetrosis and diffuse sclerosis. The diagnosis was confirmed by genetic testing. A Homozygous mutation was detected in the TNFRSF11A gene (c.508A>G p.(Arg170Gly)). RANKL is encoded by the tumor necrosis factor ligand superfamily member 11 (TNFSF11) gene, and the binding to its receptor RANK, encoded by the TNFRSF11A gene, determines the activation of the downstream pathway that drives osteoclast differentiation and activation (51). The complete absence of osteoclasts is the key feature of the osteoclast-poor form of osteopetrosis (46). Patients are characterized by the absence of TRAP-positive osteoclasts in bone biopsies. The osteoclast-poor subtype of osteopetrosis caused by mutations in TNFSF11 gene is ultra-rare in humans. Clinical presentation is usually severe, with onset in early infancy or in fetal life. But here, a case was presented with horizontal nystagmus. A case presented with horizontal nystagmus, which was evaluated by neurology and diagnosed incidentally, was shared.

Keywords: osteopetrosis, nystagmus, bone, osteoclast-poor

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