WorldWideScience

Sample records for learnt combining genetic

  1. Comparative radiation genetics. What we learnt from our studies on Medaka germ cell mutagenesis

    International Nuclear Information System (INIS)

    Shima, Akihiro

    2004-01-01

    Having been interested in studying germ cell mutagenesis from the biodiversity viewpoint, in 1985 we started developing a nonmammalian specific-locus test (SLT) system using the Medaka, Oryzias latipes. The tester strain with five marker loci, which is a prerequisite for SLT, was established by consecutive crossings of five spontaneous single mutants followed by selection based on the phenotype of each mutant. The genetic endpoints available were dominant lethal mutations (DLM), total specific-locus mutations (TSLM) and viable specific-locus mutations. Using γ-rays, ethylnitrosourea and Fe-ion beam as mutagens to which wild type males or females were exposed, we screened approx. 1.6 million F1 embryos that correspond to approx. 4.7 million loci. In an attempt to best express the comparative sensitivity of Medaka germ cells to the genetic effects of γ-rays, the gametic doubling doses for acute and high-dose γ-rays were estimated. Extensive sex differences within the wild type (HNI) strain as well as strain differences in male germ cells between the two wild type strains (HNI and Sakura) were notably found in doubling doses for DLM and TSLM. Interestingly, among these values, the doubling dose for TSLM in spermatogonia of the HNI strain (0.33 Gy) nearly coincided with that estimated from the Russell 7-locus system of mice (0.44 Gy). Our data also suggested that the initial genomic changes induced in male germ cells would not straightforwardly manifest themselves as phenotypic effects in F1 progeny, but that twofold checks, one a prefertilization check in the gonads against genomic alterations using DNA repair machinery as well as apoptotic response, and the other postfertilization check in developing embryos through dominant lethal effects. should operate to restore or ameliorate those genomic changes. More mechanistically, AP/PCR-RAPD DNA fingerprinting was employed in order to scan as wider regions of the zygotic genome as possible. These anonymous DNA markers

  2. Reproductive cloning combined with genetic modification.

    Science.gov (United States)

    Strong, C

    2005-11-01

    Although there is widespread opposition to reproductive cloning, some have argued that its use by infertile couples to have genetically related children would be ethically justifiable. Others have suggested that lesbian or gay couples might wish to use cloning to have genetically related children. Most of the main objections to human reproductive cloning are based on the child's lack of unique nuclear DNA. In the future, it may be possible safely to create children using cloning combined with genetic modifications, so that they have unique nuclear DNA. The genetic modifications could be aimed at giving such children genetic characteristics of both members of the couple concerned. Thus, cloning combined with genetic modification could be appealing to infertile, lesbian, or gay couples who seek genetically related children who have genetic characteristics of both members. In such scenarios, the various objections to human reproductive cloning that are based on the lack of genetic uniqueness would no longer be applicable. The author argues that it would be ethically justifiable for such couples to create children in this manner, assuming these techniques could be used safely.

  3. Genetic compatibility determines endophyte-grass combinations.

    Directory of Open Access Journals (Sweden)

    Kari Saikkonen

    Full Text Available Even highly mutually beneficial microbial-plant interactions, such as mycorrhizal- and rhizobial-plant exchanges, involve selfishness, cheating and power-struggles between the partners, which depending on prevailing selective pressures, lead to a continuum of interactions from antagonistic to mutualistic. Using manipulated grass-endophyte combinations in a five year common garden experiment, we show that grass genotypes and genetic mismatches constrain genetic combinations between the vertically (via host seeds transmitted endophytes and the out-crossing host, thereby reducing infections in established grass populations. Infections were lost in both grass tillers and seedlings in F(1 and F(2 generations, respectively. Experimental plants were collected as seeds from two different environments, i.e., meadows and nearby riverbanks. Endophyte-related benefits to the host included an increased number of inflorescences, but only in meadow plants and not until the last growing season of the experiment. Our results illustrate the importance of genetic host specificity and trans-generational maternal effects on the genetic structure of a host population, which act as destabilizing forces in endophyte-grass symbioses. We propose that (1 genetic mismatches may act as a buffering mechanism against highly competitive endophyte-grass genotype combinations threatening the biodiversity of grassland communities and (2 these mismatches should be acknowledged, particularly in breeding programmes aimed at harnessing systemic and heritable endophytes to improve the agriculturally valuable characteristics of cultivars.

  4. Genetics Home Reference: combined malonic and methylmalonic aciduria

    Science.gov (United States)

    ... links) Health Topic: Genetic Brain Disorders Health Topic: Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 link) Combined malonic and methylmalonic aciduria Additional NIH Resources (1 link) National Human Genome Research Institute: NHGRI Researchers Serve Up Mysterious ...

  5. Combinations of genetic data in a study of oral cancer

    DEFF Research Database (Denmark)

    Mellerup, Erling Thyge; Møller, Gert Lykke; Mondal, Pinaki

    2015-01-01

    In the single locus strategy a number of genetic variants are analyzed, in order to find variants that are distributed significantly different between controls and patients. A supplementary strategy is to analyze combinations of genetic variants. A combination that is the genetic basis...... for a polygenic disorder will not occur in in control persons genetically unrelated to patients, so the strategy is to analyze combinations of genetic variants present exclusively in patients. In a previous study of oral cancer and leukoplakia 325 SNPs were analyzed. This study has been supplemented...

  6. Combinations of Genetic Variants Occurring Exclusively in Patients

    Directory of Open Access Journals (Sweden)

    Erling Mellerup

    Full Text Available In studies of polygenic disorders, scanning the genetic variants can be used to identify variant combinations. Combinations that are exclusively found in patients can be separated from those combinations occurring in control persons. Statistical analyses can be performed to determine whether the combinations that occur exclusively among patients are significantly associated with the investigated disorder. This research strategy has been applied in materials from various polygenic disorders, identifying clusters of patient-specific genetic variant combinations that are significant associated with the investigated disorders. Combinations from these clusters are found in the genomes of up to 55% of investigated patients, and are not present in the genomes of any control persons. Keywords: Genetic variants, Polygenic disorder, Combinations of genetic variants, Patient-specific combinations

  7. Genetics Home Reference: combined pituitary hormone deficiency

    Science.gov (United States)

    ... my area? Other Names for This Condition CPHD panhypopituitarism Related Information How are genetic conditions and genes ... Mody S, Brown MR, Parks JS. The spectrum of hypopituitarism caused by PROP1 mutations. Best Pract Res Clin ...

  8. Overview of lessons learnt

    International Nuclear Information System (INIS)

    Pescatore, C.; Federline, M.; Duncan, A.

    2004-01-01

    During the Tarragona International Seminar the participating high-level specialists had very open and fruitful discussion concerning strategic decommissioning issues. The lessons learnt and possible solutions for future work issues can be found below. Although there appears to be a trend towards early dismantling, there seemed to be general agreement that technical solutions support a wide variety of safe decommissioning approaches. Thus, in terms of decommissioning strategy, it appears that no one size fits all. A flexible regulatory approach is needed in order to recognize the changing operational risks and physical conditions of facilities with time, and to optimise their dismantling. The NEA has released a comprehensive study on decommissioning strategies and costs that indicates world-wide progress. According to this report, over 50% of countries with nuclear facilities have a framework of decommissioning requirements and 60% have defined radioactive waste clearance levels. Up to about 70% of the costs of D and D are attributable to dismantling and waste management. The provisions for safety of the D and D process are closely linked to the availability of the necessary funds as and when required. A number of common factors were defined for successful implementation of decommissioning strategies: i.e. safety, technical feasibility of decommissioning options, risk-informed progression of D and D activities as project proceeds, maintenance of competency and corporate memory throughout project, waste management and disposal capability, financing that suits the scope of the project, a well-defined risk-informed and performance-based regulatory process, and establishment of effective communication with local and regional governments and key stakeholders, particularly personnel, at the earliest opportunity before decommissioning. (author)

  9. Genetics Home Reference: X-linked severe combined immunodeficiency

    Science.gov (United States)

    ... Severe Combined Immunodeficiency National Institute of Allergy and Infectious Diseases: Primary Immune Deficiency Diseases Educational Resources (6 links) Boston Children's Hospital Genetic Science Learning Center, University of Utah Great Ormond ...

  10. Combinations of Genetic Variants Occurring Exclusively in Patients

    DEFF Research Database (Denmark)

    Mellerup, Erling Thyge; Møller, Gert Lykke

    2017-01-01

    The main objective of the study was to find genetic variants that in combination are significantly associated with bipolar disorder. In previous studies of bipolar disorder, combinations of three and four single nucleotide polymorphisms (SNP) genotypes taken from 803 SNPs were analyzed, and five ...

  11. Combined genetic effects of chemicals and radiation

    International Nuclear Information System (INIS)

    Kada, T.; Inoue, T.; Yokoiyama, A.; Russell, L.B.

    1979-01-01

    The interactions of chemicals and radiation are complex, and there may exist other unexpected patterns. The photodynamic induction of mutation by fluorescein dyes, and the radiosensitization with iodine compounds are classified as the interactions of chemicals and radiation outside cells. On the other hand, the antimutagenic effects of cobaltous chloride is concerned with the events taking place in the cells that had already been exposed to mutagenic agents. It is likely that the action of mutagenic agents is not direct, and that cellular functions, such as mutators or repair systems, are involved in the mutagenesis initiated by the agents. Such cellular functions can be affected by a second agent. In sexually reproducing organisms, two agents can also act on separate cells (male and female germ cells) which subsequently fuse. In mice, the experiments combining the radiation applied to one sex with the chemicals given to the other sex are only in early stages. Males were irradiated with X-ray (spermatozoa and spermatids sampled) and females (mature oocytes) were treated with caffeine. When the endpoint was dominant lethal, the level of X-ray effect induced in the male genome was independent of the caffeine treatment of the female. However, when the endpoint was sex-chromosome-loss, and a different strain of female was used, the caffeine potentiation was statistically significant at 5% level. (Yamashita, S.)

  12. Combinations of genetic variants associated with bipolar disorder

    DEFF Research Database (Denmark)

    Mellerup, Erling; Andreassen, Ole A; Bennike, Bente

    2017-01-01

    The main objective of the study was to find genetic variants that in combination are significantly associated with bipolar disorder. In previous studies of bipolar disorder, combinations of three and four single nucleotide polymorphisms (SNP) genotypes taken from 803 SNPs were analyzed, and five...... clusters of combinations were found to be significantly associated with bipolar disorder. In the present study, combinations of ten SNP genotypes taken from the same 803 SNPs were analyzed, and one cluster of combinations was found to be significantly associated with bipolar disorder. Combinations from......, heterozygote or variant homozygote. In the combinations containing 10 SNP genotypes almost all the genotypes were the normal homozygote. Such a finding may indicate that accumulation in the genome of combinations containing few SNP genotypes may be a risk factor for bipolar disorder when those combinations...

  13. Concrete Plant Operations Optimization Using Combined Simulation and Genetic Algorithms

    NARCIS (Netherlands)

    Cao, Ming; Lu, Ming; Zhang, Jian-Ping

    2004-01-01

    This work presents a new approach for concrete plant operations optimization by combining a ready mixed concrete (RMC) production simulation tool (called HKCONSIM) with a genetic algorithm (GA) based optimization procedure. A revamped HKCONSIM computer system can be used to automate the simulation

  14. Multiplexing clonality: combining RGB marking and genetic barcoding

    Science.gov (United States)

    Cornils, Kerstin; Thielecke, Lars; Hüser, Svenja; Forgber, Michael; Thomaschewski, Michael; Kleist, Nadja; Hussein, Kais; Riecken, Kristoffer; Volz, Tassilo; Gerdes, Sebastian; Glauche, Ingmar; Dahl, Andreas; Dandri, Maura; Roeder, Ingo; Fehse, Boris

    2014-01-01

    RGB marking and DNA barcoding are two cutting-edge technologies in the field of clonal cell marking. To combine the virtues of both approaches, we equipped LeGO vectors encoding red, green or blue fluorescent proteins with complex DNA barcodes carrying color-specific signatures. For these vectors, we generated highly complex plasmid libraries that were used for the production of barcoded lentiviral vector particles. In proof-of-principle experiments, we used barcoded vectors for RGB marking of cell lines and primary murine hepatocytes. We applied single-cell polymerase chain reaction to decipher barcode signatures of individual RGB-marked cells expressing defined color hues. This enabled us to prove clonal identity of cells with one and the same RGB color. Also, we made use of barcoded vectors to investigate clonal development of leukemia induced by ectopic oncogene expression in murine hematopoietic cells. In conclusion, by combining RGB marking and DNA barcoding, we have established a novel technique for the unambiguous genetic marking of individual cells in the context of normal regeneration as well as malignant outgrowth. Moreover, the introduction of color-specific signatures in barcodes will facilitate studies on the impact of different variables (e.g. vector type, transgenes, culture conditions) in the context of competitive repopulation studies. PMID:24476916

  15. Genetics Home Reference: ZAP70-related severe combined immunodeficiency

    Science.gov (United States)

    ... gene is also involved in the activation of helper T cells (CD4+ T cells). These cells direct ... genetic testing? How can I find a genetics professional in my area? Other Names for This Condition ...

  16. Genomewide mapping reveals a combination of different genetic ...

    Indian Academy of Sciences (India)

    could not investigate all kinds of genetic effects, especially epistatic effects, simultaneously on the whole genome. ... consistent with different loci affecting heterosis for different ...... Jones D. F. 1917 Dominance of linked factors as a means of.

  17. Chronic disease risk management: Combining genetic testing with ...

    African Journals Online (AJOL)

    Nutrigenetics has been used for decades to prevent rare monogenic disorders such as phenylketonuria. Gene-diet interaction can now also be targeted to prevent or reduce the risk of many chronic conditions long before clinical manifestation. This multidisciplinary approach unites conventional medicine with genetics and ...

  18. Combinations of Genetic Data Present in Bipolar Patients, but Absent in Control Persons

    DEFF Research Database (Denmark)

    Mellerup, E; Andreassen, OA; Bennike, B.

    2015-01-01

    The main objective of the study was to find combinations of genetic variants significantly associated with bipolar disorder. In a previous study of bipolar disorder, combinations of three single nucleotide polymorphism (SNP) genotypes taken from 803 SNPs were analyzed, and four clusters of combin......The main objective of the study was to find combinations of genetic variants significantly associated with bipolar disorder. In a previous study of bipolar disorder, combinations of three single nucleotide polymorphism (SNP) genotypes taken from 803 SNPs were analyzed, and four clusters...

  19. Genetics Home Reference: combined oxidative phosphorylation deficiency 1

    Science.gov (United States)

    ... a severe condition that primarily impairs neurological and liver function. Most people with combined oxidative phosphorylation deficiency 1 have severe brain dysfunction (encephalopathy) that worsens over time; they also have difficulty ...

  20. Combining neural networks and genetic algorithms for hydrological flow forecasting

    Science.gov (United States)

    Neruda, Roman; Srejber, Jan; Neruda, Martin; Pascenko, Petr

    2010-05-01

    We present a neural network approach to rainfall-runoff modeling for small size river basins based on several time series of hourly measured data. Different neural networks are considered for short time runoff predictions (from one to six hours lead time) based on runoff and rainfall data observed in previous time steps. Correlation analysis shows that runoff data, short time rainfall history, and aggregated API values are the most significant data for the prediction. Neural models of multilayer perceptron and radial basis function networks with different numbers of units are used and compared with more traditional linear time series predictors. Out of possible 48 hours of relevant history of all the input variables, the most important ones are selected by means of input filters created by a genetic algorithm. The genetic algorithm works with population of binary encoded vectors defining input selection patterns. Standard genetic operators of two-point crossover, random bit-flipping mutation, and tournament selection were used. The evaluation of objective function of each individual consists of several rounds of building and testing a particular neural network model. The whole procedure is rather computational exacting (taking hours to days on a desktop PC), thus a high-performance mainframe computer has been used for our experiments. Results based on two years worth data from the Ploucnice river in Northern Bohemia suggest that main problems connected with this approach to modeling are ovetraining that can lead to poor generalization, and relatively small number of extreme events which makes it difficult for a model to predict the amplitude of the event. Thus, experiments with both absolute and relative runoff predictions were carried out. In general it can be concluded that the neural models show about 5 per cent improvement in terms of efficiency coefficient over liner models. Multilayer perceptrons with one hidden layer trained by back propagation algorithm and

  1. Combinations of genetic data in a study of neuroblastoma risk genotypes

    DEFF Research Database (Denmark)

    Capasso, Mario; Calabrese, Francesco Maria; Iolascon, Achille

    2014-01-01

    Analysis of combinations of genetic changes that occur exclusively in patients may be a supplementary strategy to the single-locus strategy used in many genetic studies. The genotypes of 16 SNPs within susceptibility loci for neuroblastoma (NB) were analyzed in a previous study. In the present...

  2. Lessons learnt from the organ retention controversy

    International Nuclear Information System (INIS)

    Madden, D.

    2009-01-01

    This paper examines the lessons to be learnt from the organ retention controversy in the Republic of Ireland. The paper emphasises the importance of good communication between clinicians and families of deceased persons and a move away from a medical culture based on paternalism to a partnership approach between clinicians and patients based on mutual trust and understanding. A model of authorisation rather than consent is proposed as the way forward for dealing with the difficult and traumatic experience of asking families for permission to carry out a post mortem examination on their deceased child. (authors)

  3. Lessons Learnt on Rain Forest Management for Wood Production in ...

    African Journals Online (AJOL)

    The study was carried out with the aim of analyzing and establishing what lessons have been learnt from positive and negative experiences of various initiatives, projects and programmes aiming at sustainable management, use and conservation of rain forests in Sub-Saharan Africa. The lessons learnt from the case ...

  4. Chemical Genetics — A Versatile Method to Combine Science and Higher Level Teaching in Molecular Genetics

    Directory of Open Access Journals (Sweden)

    Björn Sandrock

    2012-10-01

    Full Text Available Phosphorylation is a key event in many cellular processes like cell cycle, transformation of environmental signals to transcriptional activation or polar growth. The chemical genetics approach can be used to analyse the effect of highly specific inhibition in vivo and is a promising method to screen for kinase targets. We have used this approach to study the role of the germinal centre kinase Don3 during the cell division in the phytopathogenic fungus Ustilago maydis. Due to the easy determination of the don3 phenotype we have chosen this approach for a genetic course for M.Sc. students and for IMPRS (International Max-Planck research school students. According to the principle of “problem-based learning” the aim of this two-week course is to transfer knowledge about the broad spectrum of kinases to the students and that the students acquire the ability to design their own analog-sensitive kinase of interest. In addition to these training goals, we benefit from these annual courses the synthesis of basic constructs for genetic modification of several kinases in our model system U. maydis.

  5. Lessons learnt from WLCG service deployment

    International Nuclear Information System (INIS)

    Shiers, J D

    2008-01-01

    This paper summarises the main lessons learnt from deploying WLCG production services, with a focus on Reliability, Scalability, Accountability, which lead to both manageability and usability. Each topic is analysed in turn. Techniques for zero-user-visible downtime for the main service interventions are described, together with pathological cases that need special treatment. The requirements in terms of scalability are analysed, calling for as much robustness and automation in the service as possible. The different aspects of accountability - which covers measuring/tracking/logging/monitoring what is going on - and has gone on - is examined, with the goal of attaining a manageable service. Finally, a simple analogy is drawn with the Web in terms of usability - what do we need to achieve to cross the chasm from small-scale adoption to ubiquity?

  6. SMART-1: Development and lessons learnt

    Science.gov (United States)

    Rathsman, Peter; Kugelberg, Joakim; Bodin, Per; Racca, Giuseppe D.; Foing, Bernard; Stagnaro, Luca

    2005-07-01

    SMART-1 is the first of the small missions for advanced research and technology as part of ESA's science programme “Cosmic vision”. It was successfully launched on September 27, 2003 and is presently traveling towards its destination, the Moon. The main objective of the mission, to demonstrate solar electric primary propulsion for future Cornerstones (such as Bepi-Colombo), has already been achieved. At the time of writing the electric propulsion system has been working already for more than 3400 h and has provided a Delta-V to the spacecraft of more than 2500 m/s. The other technology objectives are also being fulfilled by the verification of the proper functioning of such on-board experiments like the X-Ka band transponder, the X-ray spectrometer, the near IR spectrometer, the laser link, etc. The scientific objectives are related to lunar science and will be fulfilled once the spacecraft enters its operational lunar orbit, currently expected for January 2005. SMART-1 lunar science investigations will include studies of the chemical composition of the Moon, of geophysical processes, environment and high-resolution studies in preparation for future steps of lunar exploration. SMART-1 has been an innovative mission in many aspects and we are now drawing some preliminary conclusions about the lessons to be learnt. The paper describes the spacecraft and the technology elements with particular emphasis to the technology nature of the mission. The on-board avionics employs many novel designs for spacecraft, including a serial CAN bus for data communication, autonomous star trackers and extensive use of auto-code generation for implementing the attitude control system and the failure, detection, isolation and recovery (FDIR). Finally, the orbital operation phase currently ongoing, including the routine electric propulsion operations and the instrument commissioning, is providing a wealth of data and lesson-learnt useful for future autonomous planetary missions.

  7. Genetic determination of high productivity in experimental hybrid combinations of sugar beet (Beta vulgaris L.

    Directory of Open Access Journals (Sweden)

    М. О. Корнєєва

    2016-05-01

    Full Text Available Purpose. Creation of experimental sugar beet hybrid combinations of high sugar yield values and defining gene­tic determination of their heterotic effect. Methods. Diallel crossing and topcrossing, genetic analysis of quantitative traits. Results. The authors have studied the frequency of occurrence of sugar beet heterotic hybrid combinations for «sugar yield» trait created on the basis of two pollinator lines to be genetically valuable for productivity elements, CMS lines and single-cross sterile hybrids with the use of diallel and topcrossing system of controlled hybridization. The share of parental components’ effect and their interaction in CMS hybrids variability for productivity was determined. Expediency of heterotic forecasting based on high combining ability lines was substabtiated. Promising high-yielding sugar beet combinations were selected that exceeded the group standard by 4.1–16.3%. Conclusions. The theory of genetic balance by M. V. Turbin was confirmed. Such hybrids as [CMS 5OT 4]MGP 1 (116.3%, [CMS 1OT 2]MGP 1 (112.5% and [CMS 3OT 5]MGP 1 (113.2% were recognized as the best for their productivity, MGP 1 and MGP 2 lines – as the best for their combining ability.

  8. Lessons learnt from Ignalina NPP decommissioning project

    International Nuclear Information System (INIS)

    NAISSE, Jean-Claude

    2007-01-01

    The Ignalina Nuclear Power Plant (INPP) is located in Lithuania, 130 km north of Vilnius, and consists of two 1500 MWe RBMK type units, commissioned respectively in December 1983 and August 1987. On the 1. of May 2004, the Republic of Lithuania became a member of the European Union. With the protocol on the Ignalina Nuclear Power in Lithuania which is annexed to the Accession Treaty, the Contracting Parties have agreed: - On Lithuanian side, to commit closure of unit 1 of INPP before 2005 and of Unit 2 by 31 December 2009; - On European Union side, to provide adequate additional Community assistance to the efforts of Lithuania to decommission INPP. The paper is divided in two parts. The first part describes how, starting from this agreement, the project was launched and organized, what is its present status and which activities are planned to reach the final ambitious objective of a green field. To give a global picture, the content of the different projects that were defined and the licensing process will also be presented. In the second part, the paper will focus on the lessons learnt. It will explain the difficulties encountered to define the decommissioning strategy, considering both immediate or differed dismantling options and why the first option was finally selected. The paper will mention other challenges and problems that the different actors of the project faced and how they were managed and solved. The paper will be written by representatives of the Ignalina NPP and of the Project Management Unit. (author)

  9. Automatic Combination of Operators in a Genetic Algorithm to Solve the Traveling Salesman Problem.

    Directory of Open Access Journals (Sweden)

    Carlos Contreras-Bolton

    Full Text Available Genetic algorithms are powerful search methods inspired by Darwinian evolution. To date, they have been applied to the solution of many optimization problems because of the easy use of their properties and their robustness in finding good solutions to difficult problems. The good operation of genetic algorithms is due in part to its two main variation operators, namely, crossover and mutation operators. Typically, in the literature, we find the use of a single crossover and mutation operator. However, there are studies that have shown that using multi-operators produces synergy and that the operators are mutually complementary. Using multi-operators is not a simple task because which operators to use and how to combine them must be determined, which in itself is an optimization problem. In this paper, it is proposed that the task of exploring the different combinations of the crossover and mutation operators can be carried out by evolutionary computing. The crossover and mutation operators used are those typically used for solving the traveling salesman problem. The process of searching for good combinations was effective, yielding appropriate and synergic combinations of the crossover and mutation operators. The numerical results show that the use of the combination of operators obtained by evolutionary computing is better than the use of a single operator and the use of multi-operators combined in the standard way. The results were also better than those of the last operators reported in the literature.

  10. Lessons Learnt of Thai Women Environmental Leaders

    Directory of Open Access Journals (Sweden)

    Sittipong Dilokwanich

    2015-07-01

    Full Text Available During the past few decades, Thai women have learned how to extent their roles from a care taker of children and a household to natural resources and environmental protection and management in local and inter-regional communities. Due to the application of National Economic and Social Development Plans, rapid resource exploitation has brought in natural resource and environmental degradation all over the country threatening communal security. For this reason, there have been a number of emerging environmental leaders who want to correct directions of national development, especially Thai woman environmental leaders who are taking a successful role of environmental guardian in their communities. This research attempts to explore why they took leadership role in environment, how they work so successful as an environmental guardian, and what their next move is. During early 2013 till mid-2014, there are 28 Thai woman leaders who received the award of Thai Environmental Conservation Mother from the Faculty of Environment and Resource Studies, Mahidol University between 2004 and 2012. They were in-depth interviewed and collected data were preceded by content analysis. Their lessons learnt show that most leaders saved their communities' environment and natural resources from the intervention of new development activities. Most of them had their parents as a good role model in environmental management who provide knowledge of morals and environmental ethics as a good basic of leadership while some shared their husband's responsibility in the same matter. Significantly, teamwork is their working style with the assistance of public participation to hold teamwork and collaboration of the community. Almost all leaders had systematic working with talents of patience, gentleness and sensitivity. The working network also broadens their new information and knowledge between practitioners. In the same time, more than half of the leaders can prepare their

  11. Main Findings: Lessons to be Learnt

    International Nuclear Information System (INIS)

    2010-01-01

    This section summarizes the main lessons to be learnt from the workshop: 1 - Workshop Methodology: This method of work has proven to be successful. Participants appreciated the high level of interaction with the other colleagues, especially in view of the variety of expertise that was represented at the workshop. The method also affords the participants the opportunity to learn about the status of waste management in the host country, and to come into contact with the main actors. Conversely, the method also affords the host country programme added visibility at the international level. 2 - National Regulations and International Guidance and Bases for Criteria and Regulatory Judgement: There is reasonable consensus amongst national regulations on fundamental regulatory objectives, but much less agreement on the most appropriate criteria. Consensus is nationally and internationally hampered by the lack of common definition of concepts and terms. International guidance is interpreted in different ways in each country. International guidance is rather difficult to interpret, understand and apply. It is important that stakeholders understand the bases for regulatory judgements. 3 - Optimisation: The fundamental goals of optimisation need to be clarified. Optimisation of long-term vs. short-term safety remains problematic. The process of performing optimisation is more important than the numerical or scientific result. A transparent, stepwise and iterative process of decision making is essential for optimisation. The basic, broad rules for decision making and involvement of stakeholders need to be defined in advance. 4 - Technical Indicators for Safe Performance: The relative importance of different safety indicators varies with timescale. There is still much to be done before reaching consensus on the relative importance of different time frames. More discussion is needed on time cut-offs for regulatory compliance. More discussion on the meaning and applicability of

  12. A Combination of Genetic Algorithm and Particle Swarm Optimization for Vehicle Routing Problem with Time Windows.

    Science.gov (United States)

    Xu, Sheng-Hua; Liu, Ji-Ping; Zhang, Fu-Hao; Wang, Liang; Sun, Li-Jian

    2015-08-27

    A combination of genetic algorithm and particle swarm optimization (PSO) for vehicle routing problems with time windows (VRPTW) is proposed in this paper. The improvements of the proposed algorithm include: using the particle real number encoding method to decode the route to alleviate the computation burden, applying a linear decreasing function based on the number of the iterations to provide balance between global and local exploration abilities, and integrating with the crossover operator of genetic algorithm to avoid the premature convergence and the local minimum. The experimental results show that the proposed algorithm is not only more efficient and competitive with other published results but can also obtain more optimal solutions for solving the VRPTW issue. One new well-known solution for this benchmark problem is also outlined in the following.

  13. Optimizing maintenance and repair policies via a combination of genetic algorithms and Monte Carlo simulation

    International Nuclear Information System (INIS)

    Marseguerra, M.; Zio, E.

    2000-01-01

    In this paper we present an optimization approach based on the combination of a Genetic Algorithms maximization procedure with a Monte Carlo simulation. The approach is applied within the context of plant logistic management for what concerns the choice of maintenance and repair strategies. A stochastic model of plant operation is developed from the standpoint of its reliability/availability behavior, i.e. of the failure/repair/maintenance processes of its components. The model is evaluated by Monte Carlo simulation in terms of economic costs and revenues of operation. The flexibility of the Monte Carlo method allows us to include several practical aspects such as stand-by operation modes, deteriorating repairs, aging, sequences of periodic maintenances, number of repair teams available for different kinds of repair interventions (mechanical, electronic, hydraulic, etc.), components priority rankings. A genetic algorithm is then utilized to optimize the components maintenance periods and number of repair teams. The fitness function object of the optimization is a profit function which inherently accounts for the safety and economic performance of the plant and whose value is computed by the above Monte Carlo simulation model. For an efficient combination of Genetic Algorithms and Monte Carlo simulation, only few hundreds Monte Carlo histories are performed for each potential solution proposed by the genetic algorithm. Statistical significance of the results of the solutions of interest (i.e. the best ones) is then attained exploiting the fact that during the population evolution the fit chromosomes appear repeatedly many times. The proposed optimization approach is applied on two case studies of increasing complexity

  14. The combined use of embryos and semen for cryogenic conservation of mammalian livestock genetic resources

    Directory of Open Access Journals (Sweden)

    Pizzi Flavia

    2005-11-01

    Full Text Available Abstract The objective of this empirical simulation study was to evaluate the use of a combination of semen and embryos in the creation of gene banks for reconstruction of an extinct breed. Such an approach was compared for banks with varying proportions of embryos on the basis of the amount of the material to be stored, time for reconstruction, maintenance of genetic variability, and probability of failure during reconstruction. Four types of populations were simulated, based on reproductive rate: single offspring, twinning, enhanced reproduction, and litter bearing. Reconstruction was simulated for banks consisting of different combinations of semen and reduced numbers of embryos (expressed as a percentage of the material needed for a bank containing exclusively embryos and ranging from 10 to 90%. The use of a combination of semen and embryos increased the number of insemination cycles needed for reconstruction and the level of genetic relatedness in the reconstructed population. The risk for extinction was unacceptably high when a very low proportion of embryos (

  15. Combining epidemiological and genetic networks signifies the importance of early treatment in HIV-1 transmission.

    Science.gov (United States)

    Zarrabi, Narges; Prosperi, Mattia; Belleman, Robert G; Colafigli, Manuela; De Luca, Andrea; Sloot, Peter M A

    2012-01-01

    Inferring disease transmission networks is important in epidemiology in order to understand and prevent the spread of infectious diseases. Reconstruction of the infection transmission networks requires insight into viral genome data as well as social interactions. For the HIV-1 epidemic, current research either uses genetic information of patients' virus to infer the past infection events or uses statistics of sexual interactions to model the network structure of viral spreading. Methods for a reliable reconstruction of HIV-1 transmission dynamics, taking into account both molecular and societal data are still lacking. The aim of this study is to combine information from both genetic and epidemiological scales to characterize and analyse a transmission network of the HIV-1 epidemic in central Italy.We introduce a novel filter-reduction method to build a network of HIV infected patients based on their social and treatment information. The network is then combined with a genetic network, to infer a hypothetical infection transmission network. We apply this method to a cohort study of HIV-1 infected patients in central Italy and find that patients who are highly connected in the network have longer untreated infection periods. We also find that the network structures for homosexual males and heterosexual populations are heterogeneous, consisting of a majority of 'peripheral nodes' that have only a few sexual interactions and a minority of 'hub nodes' that have many sexual interactions. Inferring HIV-1 transmission networks using this novel combined approach reveals remarkable correlations between high out-degree individuals and longer untreated infection periods. These findings signify the importance of early treatment and support the potential benefit of wide population screening, management of early diagnoses and anticipated antiretroviral treatment to prevent viral transmission and spread. The approach presented here for reconstructing HIV-1 transmission networks

  16. Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors.

    Science.gov (United States)

    Yapijakis, Christos; Pachis, Nikos; Voumvourakis, Costas

    2017-01-01

    Neurofibromatosis-Noonan syndrome (NFNS) is a clinical entity possessing traits of autosomal dominant disorders neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). Germline mutations that disrupt the RAS/MAPK pathway are involved in the pathogenesis of both NS and NF1. In light of a studied Greek family, a new theory for etiological pathogenesis of NFNS is suggested. The NFNS phenotype may be the final result of a combination of a genetic factor (a mutation in the NF1 gene) and an environmental factor with the epigenetic effects of muscle hypotonia (such as hydantoin in the reported Greek family), causing hypoplasia of the face and micrognathia.

  17. Phenotypic and Genetic Characterization of Circulating Tumor Cells by Combining Immunomagnetic Selection and FICTION Techniques

    Science.gov (United States)

    Campos, María; Prior, Celia; Warleta, Fernando; Zudaire, Isabel; Ruíz-Mora, Jesús; Catena, Raúl; Calvo, Alfonso; Gaforio, José J.

    2008-01-01

    The presence of circulating tumor cells (CTCs) in breast cancer patients has been proven to have clinical relevance. Cytogenetic characterization of these cells could have crucial relevance for targeted cancer therapies. We developed a method that combines an immunomagnetic selection of CTCs from peripheral blood with the fluorescence immunophenotyping and interphase cytogenetics as a tool for investigation of neoplasm (FICTION) technique. Briefly, peripheral blood (10 ml) from healthy donors was spiked with a predetermined number of human breast cancer cells. Nucleated cells were separated by double density gradient centrifugation of blood samples. Tumor cells (TCs) were immunomagnetically isolated with an anti-cytokeratin antibody and placed onto slides for FICTION analysis. For immunophenotyping and genetic characterization of TCs, a mixture of primary monoclonal anti-pancytokeratin antibodies was used, followed by fluorescent secondary antibodies, and finally hybridized with a TOP2A/HER-2/CEP17 multicolor probe. Our results show that TCs can be efficiently isolated from peripheral blood and characterized by FICTION. Because genetic amplification of TOP2A and ErbB2 (HER-2) in breast cancer correlates with response to anthracyclines and herceptin therapies, respectively, this novel methodology could be useful for a better classification of patients according to the genetic alterations of CTCs and for the application of targeted therapies. (J Histochem Cytochem 56:667–675, 2008) PMID:18413646

  18. Optimization of fog inlet air cooling system for combined cycle power plants using genetic algorithm

    International Nuclear Information System (INIS)

    Ehyaei, Mehdi A.; Tahani, Mojtaba; Ahmadi, Pouria; Esfandiari, Mohammad

    2015-01-01

    In this research paper, a comprehensive thermodynamic modeling of a combined cycle power plant is first conducted and the effects of gas turbine inlet fogging system on the first and second law efficiencies and net power outputs of combined cycle power plants are investigated. The combined cycle power plant (CCPP) considered for this study consist of a double pressure heat recovery steam generator (HRSG) to utilize the energy of exhaust leaving the gas turbine and produce superheated steam to generate electricity in the Rankine cycle. In order to enhance understanding of this research and come up with optimum performance assessment of the plant, a complete optimization is using a genetic algorithm conducted. In order to achieve this goal, a new objective function is defined for the system optimization including social cost of air pollution for the power generation systems. The objective function is based on the first law efficiency, energy cost and the external social cost of air pollution for an operational system. It is concluded that using inlet air cooling system for the CCPP system and its optimization results in an increase in the average output power, first and second law efficiencies by 17.24%, 3.6% and 3.5%, respectively, for three warm months of year. - Highlights: • To model the combined cycle power plant equipped with fog inlet air cooling method. • To conduct both exergy and economic analyses for better understanding. • To conduct a complete optimization using a genetic algorithm to determine the optimal design parameters of the system

  19. A simple method for combining genetic mapping data from multiple crosses and experimental designs.

    Directory of Open Access Journals (Sweden)

    Jeremy L Peirce

    Full Text Available BACKGROUND: Over the past decade many linkage studies have defined chromosomal intervals containing polymorphisms that modulate a variety of traits. Many phenotypes are now associated with enough mapping data that meta-analysis could help refine locations of known QTLs and detect many novel QTLs. METHODOLOGY/PRINCIPAL FINDINGS: We describe a simple approach to combining QTL mapping results for multiple studies and demonstrate its utility using two hippocampus weight loci. Using data taken from two populations, a recombinant inbred strain set and an advanced intercross population we demonstrate considerable improvements in significance and resolution for both loci. 1-LOD support intervals were improved 51% for Hipp1a and 37% for Hipp9a. We first generate locus-wise permuted P-values for association with the phenotype from multiple maps, which can be done using a permutation method appropriate to each population. These results are then assigned to defined physical positions by interpolation between markers with known physical and genetic positions. We then use Fisher's combination test to combine position-by-position probabilities among experiments. Finally, we calculate genome-wide combined P-values by generating locus-specific P-values for each permuted map for each experiment. These permuted maps are then sampled with replacement and combined. The distribution of best locus-specific P-values for each combined map is the null distribution of genome-wide adjusted P-values. CONCLUSIONS/SIGNIFICANCE: Our approach is applicable to a wide variety of segregating and non-segregating mapping populations, facilitates rapid refinement of physical QTL position, is complementary to other QTL fine mapping methods, and provides an appropriate genome-wide criterion of significance for combined mapping results.

  20. Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency.

    Science.gov (United States)

    Abolhassani, Hassan; Chou, Janet; Bainter, Wayne; Platt, Craig D; Tavassoli, Mahmood; Momen, Tooba; Tavakol, Marzieh; Eslamian, Mohammad Hossein; Gharagozlou, Mohammad; Movahedi, Masoud; Ghadami, Mohsen; Hamidieh, Amir Ali; Azizi, Gholamreza; Yazdani, Reza; Afarideh, Mohsen; Ghajar, Alireza; Havaei, Arash; Chavoshzadeh, Zahra; Mahdaviani, Seyed Alireza; Cheraghi, Taher; Behniafard, Nasrin; Amin, Reza; Aleyasin, Soheila; Faridhosseini, Reza; Jabbari-Azad, Farahzad; Nabavi, Mohammamd; Bemanian, Mohammad Hassan; Arshi, Saba; Molatefi, Rasol; Sherkat, Roya; Mansouri, Mahboubeh; Mesdaghi, Mehrnaz; Babaie, Delara; Mohammadzadeh, Iraj; Ghaffari, Javad; Shafiei, Alireza; Kalantari, Najmeddin; Ahanchian, Hamid; Khoshkhui, Maryam; Soheili, Habib; Dabbaghzadeh, Abbas; Shirkani, Afshin; Nasiri Kalmarzi, Rasoul; Mortazavi, Seyed Hamidreza; Tafaroji, Javad; Khalili, Abbas; Mohammadi, Javad; Negahdari, Babak; Joghataei, Mohammad-Taghi; Al-Ramadi, Basel K; Picard, Capucine; Parvaneh, Nima; Rezaei, Nima; Chatila, Talal A; Massaad, Michel J; Keles, Sevgi; Hammarström, Lennart; Geha, Raif S; Aghamohammadi, Asghar

    2018-04-01

    Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle East than Western countries, the resources for genetic diagnosis are limited. This study aims to characterize the categories of patients with CIDs in Iran clinically and genetically. Clinical and laboratory data were obtained from 696 patients with CIDs. Patients were subdivided into those with syndromic (344 patients) and nonsyndromic (352 patients) CIDs. Targeted DNA sequencing was performed on 243 (34.9%) patients. The overall diagnostic yield of the 243 sequenced patients was 77.8% (189 patients). The clinical diagnosis of hyper-IgE syndrome (P < .001), onset of disease at greater than 5 years (P = .02), and absence of multiple affected family members (P = .04) were significantly more frequent in the patients without a genetic diagnosis. An autosomal recessive disease was found in 62.9% of patients, reflecting the high rate of consanguinity in this cohort. Mutations impairing VDJ recombination and DNA repair were the most common underlying causes of CIDs. However, in patients with syndromic CIDs, autosomal recessive mutations in ataxia-telangiectasia mutated (ATM), autosomal dominant mutations in signal transducer and activator of transcription 3 (STAT3), and microdeletions in 22q11.21 were the most commonly affected genomic loci. Patients with syndromic CIDs had a significantly lower 5-year survival rate rather than those with nonsyndromic CIDs. This study provides proof of principle for the application of targeted next-generation sequencing panels in countries with limited diagnostic resources. The effect of genetic diagnosis on clinical care requires continued improvements in therapeutic resources for these patients. Copyright © 2017 American Academy of Allergy, Asthma & Immunology. All rights reserved.

  1. A genetic risk score combining ten psoriasis risk loci improves disease prediction.

    Directory of Open Access Journals (Sweden)

    Haoyan Chen

    2011-04-01

    Full Text Available Psoriasis is a chronic, immune-mediated skin disease affecting 2-3% of Caucasians. Recent genetic association studies have identified multiple psoriasis risk loci; however, most of these loci contribute only modestly to disease risk. In this study, we investigated whether a genetic risk score (GRS combining multiple loci could improve psoriasis prediction. Two approaches were used: a simple risk alleles count (cGRS and a weighted (wGRS approach. Ten psoriasis risk SNPs were genotyped in 2815 case-control samples and 858 family samples. We found that the total number of risk alleles in the cases was significantly higher than in controls, mean 13.16 (SD 1.7 versus 12.09 (SD 1.8, p = 4.577×10(-40. The wGRS captured considerably more risk than any SNP considered alone, with a psoriasis OR for high-low wGRS quartiles of 10.55 (95% CI 7.63-14.57, p = 2.010×10(-65. To compare the discriminatory ability of the GRS models, receiver operating characteristic curves were used to calculate the area under the curve (AUC. The AUC for wGRS was significantly greater than for cGRS (72.0% versus 66.5%, p = 2.13×10(-8. Additionally, the AUC for HLA-C alone (rs10484554 was equivalent to the AUC for all nine other risk loci combined (66.2% versus 63.8%, p = 0.18, highlighting the dominance of HLA-C as a risk locus. Logistic regression revealed that the wGRS was significantly associated with two subphenotypes of psoriasis, age of onset (p = 4.91×10(-6 and family history (p = 0.020. Using a liability threshold model, we estimated that the 10 risk loci account for only 11.6% of the genetic variance in psoriasis. In summary, we found that a GRS combining 10 psoriasis risk loci captured significantly more risk than any individual SNP and was associated with early onset of disease and a positive family history. Notably, only a small fraction of psoriasis heritability is captured by the common risk variants identified to date.

  2. Registration of TLS and MLS Point Cloud Combining Genetic Algorithm with ICP

    Directory of Open Access Journals (Sweden)

    YAN Li

    2018-04-01

    Full Text Available Large scene point cloud can be quickly acquired by mobile laser scanning (MLS technology,which needs to be supplemented by terrestrial laser scanning (TLS point cloud because of limited field of view and occlusion.MLS and TLS point cloud are located in geodetic coordinate system and local coordinate system respectively.This paper proposes an automatic registration method combined genetic algorithm (GA and iterative closed point ICP to achieve a uniform coordinate reference frame.The local optimizer is utilized in ICP.The efficiency of ICP is higher than that of GA registration,but it depends on a initial solution.GA is a global optimizer,but it's inefficient.The combining strategy is that ICP is enabled to complete the registration when the GA tends to local search.The rough position measured by a built-in GPS of a terrestrial laser scanner is used in the GA registration to limit its optimizing search space.To improve the GA registration accuracy,a maximum registration model called normalized sum of matching scores (NSMS is presented.The results for measured data show that the NSMS model is effective,the root mean square error (RMSE of GA registration is 1~5 cm and the registration efficiency can be improved by about 50% combining GA with ICP.

  3. Fluorescence in situ hybridization in combination with the comet assay and micronucleus test in genetic toxicology

    Directory of Open Access Journals (Sweden)

    Hovhannisyan Galina G

    2010-09-01

    Full Text Available Abstract Comet assay and micronucleus (MN test are widely applied in genotoxicity testing and biomonitoring. While comet assay permits to measure direct DNA-strand breaking capacity of a tested agent MN test allows estimating the induced amount of chromosome and/or genome mutations. The potential of these two methods can be enhanced by the combination with fluorescence in situ hybridization (FISH techniques. FISH plus comet assay allows the recognition of targets of DNA damage and repairing directly. FISH combined with MN test is able to characterize the occurrence of different chromosomes in MN and to identify potential chromosomal targets of mutagenic substances. Thus, combination of FISH with the comet assay or MN test proved to be promising techniques for evaluation of the distribution of DNA and chromosome damage in the entire genome of individual cells. FISH technique also permits to study comet and MN formation, necessary for correct application of these methods. This paper reviews the relevant literature on advantages and limitations of Comet-FISH and MN-FISH assays application in genetic toxicology.

  4. Combining demographic and genetic factors to assess population vulnerability in stream species

    Science.gov (United States)

    Erin L, Landguth; Muhlfeld, Clint C.; Jones, Leslie W.; Waples, Robin S.; Whited, Diane; Lowe, Winsor H.; Lucotch, John; Neville, Helen; Luikart, Gordon

    2014-01-01

    Accelerating climate change and other cumulative stressors create an urgent need to understand the influence of environmental variation and landscape features on the connectivity and vulnerability of freshwater species. Here, we introduce a novel modeling framework for aquatic systems that integrates spatially explicit, individual-based, demographic and genetic (demogenetic) assessments with environmental variables. To show its potential utility, we simulated a hypothetical network of 19 migratory riverine populations (e.g., salmonids) using a riverscape connectivity and demogenetic model (CDFISH). We assessed how stream resistance to movement (a function of water temperature, fluvial distance, and physical barriers) might influence demogenetic connectivity, and hence, population vulnerability. We present demographic metrics (abundance, immigration, and change in abundance) and genetic metrics (diversity, differentiation, and change in differentiation), and combine them into a single vulnerability index for identifying populations at risk of extirpation. We considered four realistic scenarios that illustrate the relative sensitivity of these metrics for early detection of reduced connectivity: (1) maximum resistance due to high water temperatures throughout the network, (2) minimum resistance due to low water temperatures throughout the network, (3) increased resistance at a tributary junction caused by a partial barrier, and (4) complete isolation of a tributary, leaving resident individuals only. We then applied this demogenetic framework using empirical data for a bull trout (Salvelinus confluentus) metapopulation in the upper Flathead River system, Canada and USA, to assess how current and predicted future stream warming may influence population vulnerability. Results suggest that warmer water temperatures and associated barriers to movement (e.g., low flows, dewatering) are predicted to fragment suitable habitat for migratory salmonids, resulting in the loss

  5. Behavioral phenotypes in schizophrenic animal models with multiple combinations of genetic and environmental factors.

    Science.gov (United States)

    Hida, Hirotake; Mouri, Akihiro; Noda, Yukihiro

    2013-01-01

    Schizophrenia is a multifactorial psychiatric disorder in which both genetic and environmental factors play a role. Genetic [e.g., Disrupted-in-schizophrenia 1 (DISC1), Neuregulin-1 (NRG1)] and environmental factors (e.g., maternal viral infection, obstetric complications, social stress) may act during the developmental period to increase the incidence of schizophrenia. In animal models, interactions between susceptibility genes and the environment can be controlled in ways not possible in humans; therefore, such models are useful for investigating interactions between or within factors in the pathogenesis and pathophysiology of schizophrenia. We provide an overview of schizophrenic animal models investigating interactions between or within factors. First, we reviewed gene-environment interaction animal models, in which schizophrenic candidate gene mutant mice were subjected to perinatal immune activation or adolescent stress. Next, environment-environment interaction animal models, in which mice were subjected to a combination of perinatal immune activation and adolescent administration of drugs, were described. These animal models showed interaction between or within factors; behavioral changes, which were obscured by each factor, were marked by interaction of factors and vice versa. Appropriate behavioral approaches with such models will be invaluable for translational research on novel compounds, and also for providing insight into the pathogenesis and pathophysiology of schizophrenia.

  6. Multi-objective thermodynamic optimization of combined Brayton and inverse Brayton cycles using genetic algorithms

    International Nuclear Information System (INIS)

    Besarati, S.M.; Atashkari, K.; Jamali, A.; Hajiloo, A.; Nariman-zadeh, N.

    2010-01-01

    This paper presents a simultaneous optimization study of two outputs performance of a previously proposed combined Brayton and inverse Brayton cycles. It has been carried out by varying the upper cycle pressure ratio, the expansion pressure of the bottom cycle and using variable, above atmospheric, bottom cycle inlet pressure. Multi-objective genetic algorithms are used for Pareto approach optimization of the cycle outputs. The two important conflicting thermodynamic objectives that have been considered in this work are net specific work (w s ) and thermal efficiency (η th ). It is shown that some interesting features among optimal objective functions and decision variables involved in the Baryton and inverse Brayton cycles can be discovered consequently.

  7. A combination of genetic algorithm and particle swarm optimization method for solving traveling salesman problem

    Directory of Open Access Journals (Sweden)

    Keivan Borna

    2015-12-01

    Full Text Available Traveling salesman problem (TSP is a well-established NP-complete problem and many evolutionary techniques like particle swarm optimization (PSO are used to optimize existing solutions for that. PSO is a method inspired by the social behavior of birds. In PSO, each member will change its position in the search space, according to personal or social experience of the whole society. In this paper, we combine the principles of PSO and crossover operator of genetic algorithm to propose a heuristic algorithm for solving the TSP more efficiently. Finally, some experimental results on our algorithm are applied in some instances in TSPLIB to demonstrate the effectiveness of our methods which also show that our algorithm can achieve better results than other approaches.

  8. Association between combinations of genetic polymorphisms and epidemiopathogenic forms of bovine paratuberculosis

    Directory of Open Access Journals (Sweden)

    Ramon A. Juste

    2018-02-01

    Full Text Available Control of major mycobacterial diseases affecting livestock is a challenging issue that requires different approaches. The use of genetic markers for improving resistance to Mycobacterium avium subsp. paratuberculosis infection in cattle has been explored as a promising population strategy We performed paratuberculosis epidemiopathogenic phenotypic and genotypic characterization involving 24 SNPs in six candidate genes (NOD2, CD209, SLC11A1, SP110, TLR2 and TLR4 on 502 slaughtered Friesian cows. In the current study, we investigate whether recently proposed paratuberculosis (PTB epidemiopathogenic (EP forms (apparently free-AF, latent-LAT and patent-PAT could be associated with some combination of these 24 SNPs. Best EP form grouping was obtained using a combination of 5 SNPs in four genes (CD209: rs210748127; SLC11A1: rs110090506; SP110: rs136859213 and rs110480812; and TLR2: rs41830058. These groups were defined according to the level of infection progression risk to patent epidemiopathogenic forms and showed the following distributions: LOWIN (low with 39 (8% cases (94.9% AF/5.1% LAT/0% PAT; LATIN (low with 17 (3% cases (5.9% AF/94.1% LAT/0% PAT; AVERIN (average with 413 (82% cases (52.1% AF/38.5% LAT/9.4% PAT and PATIN (patent with 33 (7% cases (36.4% AF/24.2% LAT/39.4% PAT. Age of slaughter was significantly higher for LATIN (88.3 months compared to AVERIN (65.3 months; p = 0.0007 and PATIN (59.1 months; p = 0.0004, and for LOWIN (73.9 months compared to PATIN (p = 0.0233, and nearly significant compared to AVERIN (p = 0.0572 These results suggest that some selected genetic polymorphisms have a potential use as markers of PTB EP forms and thus add a new tool for the control of this widespread infection.

  9. Physiological regulation through learnt control of appetites by contingencies among signals from external and internal environments.

    Science.gov (United States)

    Booth, David A

    2008-11-01

    As reviewed by [Cooper, S. J. (2008). From Claude Bernard to Walter Cannon: emergence of the concept of homeostasis. Appetite 51, 419-27.] Claude Bernard's idea of stabilisation of bodily states, as realised in Walter B. Cannon's conception of homeostasis, took mathematical form during the 1940s in the principle that externally originating disturbance of a physiological parameter can feed an informative signal around the brain to trigger counteractive processes--a corrective mechanism known as negative feedback, in practice reliant on feedforward. Three decades later, enough was known of the physiology and psychology of eating and drinking for calculations to show how experimentally demonstrated mechanisms of feedforward that had been learnt from negative feedback combine to regulate exchanges of water and energy between the body and the surroundings. Subsequent systemic physiology, molecular neuroscience and experimental psychology, however, have been traduced by a misconception that learnt controls of intake are 'non-homeostatic', the myth of biological 'set points' and an historic failure to address evidence for the ingestion-adapting information-processing mechanisms on which an operationally integrative theory of eating and drinking relies.

  10. Strongly enhanced colorectal cancer risk stratification by combining family history and genetic risk score

    Directory of Open Access Journals (Sweden)

    Weigl K

    2018-01-01

    joint consideration provided more accurate risk stratification than risk stratification based on each of the variables individually. For example, risk was 6.1-fold increased in the presence of both FH in a FDR and a GRS in the highest decile (aOR 6.14, 95% CI 3.47–10.84 compared to persons without FH and a GRS in the lowest decile.Conclusion: Both FH and the so far identified genetic variants carry essentially independent risk information and in combination provide great potential for CRC risk stratification. Keywords: colorectal neoplasms, familial risk, common genetic variants, single-nucleotide polymorphisms

  11. Lessons learnt from the capacity building activities for Asian countries

    International Nuclear Information System (INIS)

    Nakagawa, Masaki

    2010-01-01

    Japan Nuclear Energy Safety Organization (JNES) has being providing much of cooperative activities for establishing the nuclear regulatory infrastructure to the several Asian countries like China, Indonesia, Thailand and particularly Vietnam which either started extended construction of nuclear power stations or are launching on new nuclear power programs. Our cooperation to these countries covers several different types like long-term training course, issue-specific training course and periodic safety seminar etc. Through these activities what we have learnt is that to help other countries is not an easy business. To fully recognize what are actually requested by the recipients' countries is not at all an easy business either. This paper will illustrate our experiences to have worked on the cooperative activities putting the emphasis on the lessons learnt through these experiences. (author)

  12. Lessons Learnt from Past Incidents and Accidents in Radiation Oncology.

    Science.gov (United States)

    Knöös, T

    2017-09-01

    The purpose of this report is to review and compile what have been and can be learnt from incidents and accidents in radiation oncology, especially in external beam and brachytherapy. Some major accidents from the last 20 years will be discussed. The relationship between major events and minor or so-called near misses is mentioned, leading to the next topic of exploring the knowledge hidden among them. The main lessons learnt from the discussion here and elsewhere are that a well-functioning and safe radiotherapy department should help staff to work with awareness and alertness and that documentation and procedures should be in place and known by everyone. It also requires that trained and educated staff with the required competences are in place and, finally, functions and responsibilities are defined and well known. Copyright © 2017 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.

  13. Biopsychosocial influence on exercise-induced injury: genetic and psychological combinations are predictive of shoulder pain phenotypes

    OpenAIRE

    George, Steven Z.; Parr, Jeffrey J.; Wallace, Margaret R.; Wu, Samuel S.; Borsa, Paul A.; Dai, Yunfeng; Fillingim, Roger B.

    2013-01-01

    Chronic pain is influenced by biological, psychological, social, and cultural factors. The current study investigated potential roles for combinations of genetic and psychological factors in the development and/or maintenance of chronic musculoskeletal pain. An exercise-induced shoulder injury model was used and a priori selected genetic (ADRB2, COMT, OPRM1, AVPR1A, GCH1, and KCNS1) and psychological (anxiety, depressive symptoms, pain catastrophizing, fear of pain, and kinesiophobia) factors...

  14. Combined Simulated Annealing and Genetic Algorithm Approach to Bus Network Design

    Science.gov (United States)

    Liu, Li; Olszewski, Piotr; Goh, Pong-Chai

    A new method - combined simulated annealing (SA) and genetic algorithm (GA) approach is proposed to solve the problem of bus route design and frequency setting for a given road network with fixed bus stop locations and fixed travel demand. The method involves two steps: a set of candidate routes is generated first and then the best subset of these routes is selected by the combined SA and GA procedure. SA is the main process to search for a better solution to minimize the total system cost, comprising user and operator costs. GA is used as a sub-process to generate new solutions. Bus demand assignment on two alternative paths is performed at the solution evaluation stage. The method was implemented on four theoretical grid networks of different size and a benchmark network. Several GA operators (crossover and mutation) were utilized and tested for their effectiveness. The results show that the proposed method can efficiently converge to the optimal solution on a small network but computation time increases significantly with network size. The method can also be used for other transport operation management problems.

  15. Corporate Social Responsibility; Learnt rather than Imposed

    DEFF Research Database (Denmark)

    Justenlund, Anders; Rebelo, Sofia

    is setup and combined with a theoretical discussion of human learning, positive social change, and integrative learning within the hospitality organisation. This research recognisesthe importance of the individual's motives for exercising CSR at the lower levels of the organisation. The intention...... is to provide a perspective on the positive social processes that lower level employees (middle management/employees) undergo when working according to CSR-principles, based on social motives and behaviour, combined with an introduction to the learning intentions of low educated employees at lower...... organisational level. A hermeneutical paradigm is applied to the understanding of human (inter-) action in relation to understanding a phenomenon as CSR and motives for social change. It is suggested that the process of postive social change is divided into four phases, similar to The Human Learning Process...

  16. F8 haplotype and inhibitor risk: results from the Hemophilia Inhibitor Genetics Study (HIGS) Combined Cohort

    Science.gov (United States)

    Schwarz, John; Astermark, Jan; Menius, Erika D.; Carrington, Mary; Donfield, Sharyne M.; Gomperts, Edward D.; Nelson, George W.; Oldenburg, Johannes; Pavlova, Anna; Shapiro, Amy D.; Winkler, Cheryl A.; Berntorp, Erik

    2012-01-01

    Background Ancestral background, specifically African descent, confers higher risk for development of inhibitory antibodies to factor VIII (FVIII) in hemophilia A. It has been suggested that differences in the distribution of factor VIII gene (F8) haplotypes, and mismatch between endogenous F8 haplotypes and those comprising products used for treatment could contribute to risk. Design and Methods Data from the HIGS Combined Cohort were used to determine the association between F8 haplotype 3 (H3) vs. haplotypes 1 and 2 (H1+H2) and inhibitor risk among individuals of genetically-determined African descent. Other variables known to affect inhibitor risk including type of F8 mutation and HLA were included in the analysis. A second research question regarding risk related to mismatch in endogenous F8 haplotype and recombinant FVIII products used for treatment was addressed. Results H3 was associated with higher inhibitor risk among those genetically-identified (N=49) as of African ancestry, but the association did not remain significant after adjustment for F8 mutation type and the HLA variables. Among subjects of all racial ancestries enrolled in HIGS who reported early use of recombinant products (N=223), mismatch in endogenous haplotype and the FVIII proteins constituting the products used did not confer greater risk for inhibitor development. Conclusion H3 was not an independent predictor of inhibitor risk. Further, our findings did not support a higher risk of inhibitors in the presence of a haplotype mismatch between the FVIII molecule infused and that of the individual. PMID:22958194

  17. Enhancement of combined heat and power economic dispatch using self adaptive real-coded genetic algorithm

    Energy Technology Data Exchange (ETDEWEB)

    Subbaraj, P. [Kalasalingam University, Srivilliputhur, Tamilnadu 626 190 (India); Rengaraj, R. [Electrical and Electronics Engineering, S.S.N. College of Engineering, Old Mahabalipuram Road, Thirupporur (T.K), Kalavakkam, Kancheepuram (Dist.) 603 110, Tamilnadu (India); Salivahanan, S. [S.S.N. College of Engineering, Old Mahabalipuram Road, Thirupporur (T.K), Kalavakkam, Kancheepuram (Dist.) 603 110, Tamilnadu (India)

    2009-06-15

    In this paper, a self adaptive real-coded genetic algorithm (SARGA) is implemented to solve the combined heat and power economic dispatch (CHPED) problem. The self adaptation is achieved by means of tournament selection along with simulated binary crossover (SBX). The selection process has a powerful exploration capability by creating tournaments between two solutions. The better solution is chosen and placed in the mating pool leading to better convergence and reduced computational burden. The SARGA integrates penalty parameterless constraint handling strategy and simultaneously handles equality and inequality constraints. The population diversity is introduced by making use of distribution index in SBX operator to create a better offspring. This leads to a high diversity in population which can increase the probability towards the global optimum and prevent premature convergence. The SARGA is applied to solve CHPED problem with bounded feasible operating region which has large number of local minima. The numerical results demonstrate that the proposed method can find a solution towards the global optimum and compares favourably with other recent methods in terms of solution quality, handling constraints and computation time. (author)

  18. eCOMPAGT – efficient Combination and Management of Phenotypes and Genotypes for Genetic Epidemiology

    Directory of Open Access Journals (Sweden)

    Specht Günther

    2009-05-01

    Full Text Available Abstract Background High-throughput genotyping and phenotyping projects of large epidemiological study populations require sophisticated laboratory information management systems. Most epidemiological studies include subject-related personal information, which needs to be handled with care by following data privacy protection guidelines. In addition, genotyping core facilities handling cooperative projects require a straightforward solution to monitor the status and financial resources of the different projects. Description We developed a database system for an efficient combination and management of phenotypes and genotypes (eCOMPAGT deriving from genetic epidemiological studies. eCOMPAGT securely stores and manages genotype and phenotype data and enables different user modes with different rights. Special attention was drawn on the import of data deriving from TaqMan and SNPlex genotyping assays. However, the database solution is adjustable to other genotyping systems by programming additional interfaces. Further important features are the scalability of the database and an export interface to statistical software. Conclusion eCOMPAGT can store, administer and connect phenotype data with all kinds of genotype data and is available as a downloadable version at http://dbis-informatik.uibk.ac.at/ecompagt.

  19. Is Neurofibromatosis Type 1-Noonan Syndrome a Phenotypic Result of Combined Genetic and Epigenetic Factors?

    Science.gov (United States)

    Yapijakis, Christos; Pachis, Nikos; Natsis, Stavros; Voumvourakis, Costas

    2016-01-01

    Neurofibromatosis 1-Noonan syndrome (NFNS) presents combined characteristics of both autosomal dominant disorders: NF1 and Noonan syndrome (NS). The genes causing NF1 and NS are located on different chromosomes, making it uncertain whether NFNS is a separate entity as previously suggested, or rather a clinical variation. We present a four-membered Greek family. The father was diagnosed with familial NF1 and the mother with generalized epilepsy, being under hydantoin treatment since the age of 18 years. Their two male children exhibited NFNS characteristics. The father and his sons shared R1947X mutation in the NF1 gene. The two children with NFNS phenotype presented with NF1 signs inherited from their father and fetal hydantoin syndrome-like phenotype due to exposure to that anticonvulsant during fetal development. The NFNS phenotype may be the result of both a genetic factor (mutation in the NF1 gene) and an epigenetic/environmental factor (e.g. hydantoin). Copyright © 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

  20. A combination of compositional index and genetic algorithm for predicting transmembrane helical segments.

    Directory of Open Access Journals (Sweden)

    Nazar Zaki

    Full Text Available Transmembrane helix (TMH topology prediction is becoming a focal problem in bioinformatics because the structure of TM proteins is difficult to determine using experimental methods. Therefore, methods that can computationally predict the topology of helical membrane proteins are highly desirable. In this paper we introduce TMHindex, a method for detecting TMH segments using only the amino acid sequence information. Each amino acid in a protein sequence is represented by a Compositional Index, which is deduced from a combination of the difference in amino acid occurrences in TMH and non-TMH segments in training protein sequences and the amino acid composition information. Furthermore, a genetic algorithm was employed to find the optimal threshold value for the separation of TMH segments from non-TMH segments. The method successfully predicted 376 out of the 378 TMH segments in a dataset consisting of 70 test protein sequences. The sensitivity and specificity for classifying each amino acid in every protein sequence in the dataset was 0.901 and 0.865, respectively. To assess the generality of TMHindex, we also tested the approach on another standard 73-protein 3D helix dataset. TMHindex correctly predicted 91.8% of proteins based on TM segments. The level of the accuracy achieved using TMHindex in comparison to other recent approaches for predicting the topology of TM proteins is a strong argument in favor of our proposed method.The datasets, software together with supplementary materials are available at: http://faculty.uaeu.ac.ae/nzaki/TMHindex.htm.

  1. Biopsychosocial influence on exercise-induced injury: genetic and psychological combinations are predictive of shoulder pain phenotypes.

    Science.gov (United States)

    George, Steven Z; Parr, Jeffrey J; Wallace, Margaret R; Wu, Samuel S; Borsa, Paul A; Dai, Yunfeng; Fillingim, Roger B

    2014-01-01

    Chronic pain is influenced by biological, psychological, social, and cultural factors. The current study investigated potential roles for combinations of genetic and psychological factors in the development and/or maintenance of chronic musculoskeletal pain. An exercise-induced shoulder injury model was used, and a priori selected genetic (ADRB2, COMT, OPRM1, AVPR1 A, GCH1, and KCNS1) and psychological (anxiety, depressive symptoms, pain catastrophizing, fear of pain, and kinesiophobia) factors were included as predictors. Pain phenotypes were shoulder pain intensity (5-day average and peak reported on numerical rating scale), upper extremity disability (5-day average and peak reported on the QuickDASH), and shoulder pain duration (in days). After controlling for age, sex, and race, the genetic and psychological predictors were entered as main effects and interaction terms in separate regression models for the different pain phenotypes. Results from the recruited cohort (N = 190) indicated strong statistical evidence for interactions between the COMT diplotype and 1) pain catastrophizing for 5-day average upper extremity disability and 2) depressive symptoms for pain duration. There was moderate statistical evidence for interactions for other shoulder pain phenotypes between additional genes (ADRB2, AVPR1 A, and KCNS1) and depressive symptoms, pain catastrophizing, or kinesiophobia. These findings confirm the importance of the combined predictive ability of COMT with psychological distress and reveal other novel combinations of genetic and psychological factors that may merit additional investigation in other pain cohorts. Interactions between genetic and psychological factors were investigated as predictors of different exercise-induced shoulder pain phenotypes. The strongest statistical evidence was for interactions between the COMT diplotype and pain catastrophizing (for upper extremity disability) or depressive symptoms (for pain duration). Other novel

  2. Assessing the impact of a combined analysis of four common low-risk genetic variants on autism risk

    Directory of Open Access Journals (Sweden)

    Carayol Jerome

    2010-02-01

    Full Text Available Abstract Background Autism is a complex disorder characterized by deficits involving communication, social interaction, and repetitive and restrictive patterns of behavior. Twin studies have shown that autism is strongly heritable, suggesting a strong genetic component. In other disease states with a complex etiology, such as type 2 diabetes, cancer and cardiovascular disease, combined analysis of multiple genetic variants in a genetic score has helped to identify individuals at high risk of disease. Genetic scores are designed to test for association of genetic markers with disease. Method The accumulation of multiple risk alleles markedly increases the risk of being affected, and compared with studying polymorphisms individually, it improves the identification of subgroups of individuals at greater risk. In the present study, we show that this approach can be applied to autism by specifically looking at a high-risk population of children who have siblings with autism. A two-sample study design and the generation of a genetic score using multiple independent genes were used to assess the risk of autism in a high-risk population. Results In both samples, odds ratios (ORs increased significantly as a function of the number of risk alleles, with a genetic score of 8 being associated with an OR of 5.54 (95% confidence interval [CI] 2.45 to 12.49. The sensitivities and specificities for each genetic score were similar in both analyses, and the resultant area under the receiver operating characteristic curves were identical (0.59. Conclusions These results suggest that the accumulation of multiple risk alleles in a genetic score is a useful strategy for assessing the risk of autism in siblings of affected individuals, and may be better than studying single polymorphisms for identifying subgroups of individuals with significantly greater risk.

  3. Monthly streamflow forecasting using continuous wavelet and multi-gene genetic programming combination

    Science.gov (United States)

    Hadi, Sinan Jasim; Tombul, Mustafa

    2018-06-01

    Streamflow is an essential component of the hydrologic cycle in the regional and global scale and the main source of fresh water supply. It is highly associated with natural disasters, such as droughts and floods. Therefore, accurate streamflow forecasting is essential. Forecasting streamflow in general and monthly streamflow in particular is a complex process that cannot be handled by data-driven models (DDMs) only and requires pre-processing. Wavelet transformation is a pre-processing technique; however, application of continuous wavelet transformation (CWT) produces many scales that cause deterioration in the performance of any DDM because of the high number of redundant variables. This study proposes multigene genetic programming (MGGP) as a selection tool. After the CWT analysis, it selects important scales to be imposed into the artificial neural network (ANN). A basin located in the southeast of Turkey is selected as case study to prove the forecasting ability of the proposed model. One month ahead downstream flow is used as output, and downstream flow, upstream, rainfall, temperature, and potential evapotranspiration with associated lags are used as inputs. Before modeling, wavelet coherence transformation (WCT) analysis was conducted to analyze the relationship between variables in the time-frequency domain. Several combinations were developed to investigate the effect of the variables on streamflow forecasting. The results indicated a high localized correlation between the streamflow and other variables, especially the upstream. In the models of the standalone layout where the data were entered to ANN and MGGP without CWT, the performance is found poor. In the best-scale layout, where the best scale of the CWT identified as the highest correlated scale is chosen and enters to ANN and MGGP, the performance increased slightly. Using the proposed model, the performance improved dramatically particularly in forecasting the peak values because of the inclusion

  4. Conservation priorities for Ethiopian sheep breeds combining threat status, breed merits and contributions to genetic diversity

    NARCIS (Netherlands)

    Gizaw, S.; Komen, J.; Windig, J.J.; Hanotte, O.; Arendonk, van J.A.M.

    2008-01-01

    Prioritizing livestock breeds for conservation needs to incorporate both genetic and non-genetic aspects important for the survival of the breeds. Here, we apply a maximum-utility-strategy to prioritize 14 traditional Ethiopian sheep breeds based on their threat status, contributions to farmer

  5. Optimization of Combined Thermal and Electrical Behavior of Power Converters Using Multi-Objective Genetic Algorithms

    NARCIS (Netherlands)

    Malyna, D.V.; Duarte, J.L.; Hendrix, M.A.M.; Horck, van F.B.M.

    2007-01-01

    A practical example of power electronic converter synthesis is presented, where a multi-objective genetic algorithm, namely non-dominated sorting genetic algorithm (NSGA-II) is used. The optimization algorithm takes an experimentally-derived thermal model for the converter into account. Experimental

  6. Combining genetic and demographic data for the conservation of a Mediterranean marine habitat-forming species.

    Directory of Open Access Journals (Sweden)

    Rosana Arizmendi-Mejía

    Full Text Available The integration of ecological and evolutionary data is highly valuable for conservation planning. However, it has been rarely used in the marine realm, where the adequate design of marine protected areas (MPAs is urgently needed. Here, we examined the interacting processes underlying the patterns of genetic structure and demographic strucuture of a highly vulnerable Mediterranean habitat-forming species (i.e. Paramuricea clavata (Risso, 1826, with particular emphasis on the processes of contemporary dispersal, genetic drift, and colonization of a new population. Isolation by distance and genetic discontinuities were found, and three genetic clusters were detected; each submitted to variations in the relative impact of drift and gene flow. No founder effect was found in the new population. The interplay of ecology and evolution revealed that drift is strongly impacting the smallest, most isolated populations, where partial mortality of individuals was highest. Moreover, the eco-evolutionary analyses entailed important conservation implications for P. clavata. Our study supports the inclusion of habitat-forming organisms in the design of MPAs and highlights the need to account for genetic drift in the development of MPAs. Moreover, it reinforces the importance of integrating genetic and demographic data in marine conservation.

  7. Genetic effects of combined chemical-X-ray treatments in male mouse germ cells

    International Nuclear Information System (INIS)

    Cattanach, B.M.; Rasberry, C.

    1987-01-01

    Several studies have shown that the yield of genetic damage induced by radiation in male mouse germ cells can be modified by chemical treatments. Pre-treatments with radio-protecting agents have given contradictory results but this appears to be largely attributable to the different germ cell stages tested and dependent upon the level of radiation damage induced. Pre-treatments which enhance the yield of genetic damage have been reported although, as yet, no tests have been conducted with radio-sensitizers. Another form of interaction between chemicals and radiation is specifically found with spermatogonial stem cells. Chemicals that kill cells can, by population depletion, substantially and predictably modify the genetic response to subsequent radiation exposure over a period of several days, or even weeks. Enhancement and reduction in the genetic yield can be attained, dependent upon the interval between treatments, with the modification also varying with the type of genetic damage scored. Post-treatment with one chemical (TEM) has been shown to reduce the genetic response to radiation exposure. (author)

  8. Combined effect of genetic polymorphisms of AURKA and environmental factors on oral cancer development in Taiwan.

    Directory of Open Access Journals (Sweden)

    Chia-Hsuan Chou

    Full Text Available Oral squamous cell carcinoma (OSCC is the sixth and fourth most common cause of cancer death in men worldwide and in Taiwan, respectively. AURKA, which encodes a centrosome-related serine/threonine kinase, is frequently amplified and overexpressed in many human cancers, particularly advanced OSCC. We conducted a hospital-based case-control study to estimate AURKA single-nucleotide polymorphisms (SNPs and environmental risk factors to determine OSCC susceptibility and clinicopathological characteristics.We enrolled a total of 876 OSCC patients and 1200 controls. Four SNPs of AURKA, namely rs1047972, rs2273535, rs2064863, and rs6024836, were analyzed using real-time polymerase chain reaction (PCR. Among the 1420 smokers, the AURKA polymorphism carriers with the betel nut chewing habit had a higher risk of oral cancer than AURKA wild-type (WT carriers without the betel nut chewing habit. Patients with the AURKA rs2064863 gene had a 1.365-fold higher risk of stage III or IV OSCC (95% confidence interval [CI] 1.029-1.811 than those with the rs2064863 WT gene. Furthermore, carriers of the AURKA rs1047972/rs2273535/rs2064863 C-A-T haplotype had a 1.736-fold (95% CI 1.110-2.715 higher risk of OSCC than controls (C-T-T, the most common haplotype. Among patients with the betel quid chewing habit, carriers of other haplotypes (C-T-T, C-A-G, T-A-T, T-A-G, T-T-T, and C-T-G had a 12.857-fold (95% CI 10.731-15.404 increased risk, and carriers of the C-A-T haplotype had the highest risk (AOR: 31.120; 95% CI 13.864-69.850 of OSCC, compared with those without the betel quid chewing who harbored other haplotypes.In conclusion, betel nut chewing combined with the AURKA C-A-T haplotypes lead to a high risk of OSCC. These findings reveal a novel genetic-environmental predisposition for oral tumorigenesis.

  9. Genetic variability induction in the size of the size of rice plantules by combined irradiation and temperature treatments

    International Nuclear Information System (INIS)

    Garcia, D.; Gonzalez, L.M.; Gumberra, R.

    1993-01-01

    Induced variability in the size of rice plantules was determined using the heritability calculation in a narrow sense, by means of the progenitor-descendant regression. Progenitor stands for the original variety, whereas descendant stands for plant population from CO6 0 gamma-rays irradiated seeds (at 100-600 Gy doses), treated at different temperatures. Results obtained: show the possibility to increase efficiency in variability induction by a combined course of action of both factors. In this experience, the best combination turned out to be 300 Gy-0 celsius grated, which of all the changes that it caused, some 75 percent was of a genetic nature

  10. Cyanobacteria: photosynthetic factories combining biodiversity, radiation resistance, and genetics to facilitate drug discovery.

    Science.gov (United States)

    Cassier-Chauvat, Corinne; Dive, Vincent; Chauvat, Franck

    2017-02-01

    Cyanobacteria are ancient, abundant, and widely diverse photosynthetic prokaryotes, which are viewed as promising cell factories for the ecologically responsible production of chemicals. Natural cyanobacteria synthesize a vast array of biologically active (secondary) metabolites with great potential for human health, while a few genetic models can be engineered for the (low level) production of biofuels. Recently, genome sequencing and mining has revealed that natural cyanobacteria have the capacity to produce many more secondary metabolites than have been characterized. The corresponding panoply of enzymes (polyketide synthases and non-ribosomal peptide synthases) of interest for synthetic biology can still be increased through gene manipulations with the tools available for the few genetically manipulable strains. In this review, we propose to exploit the metabolic diversity and radiation resistance of cyanobacteria, and when required the genetics of model strains, for the production and radioactive ( 14 C) labeling of bioactive products, in order to facilitate the screening for new drugs.

  11. Lessons learnt from stakeholder engagement in the UK Environment Agency

    International Nuclear Information System (INIS)

    Chandler, Steve

    2004-01-01

    The Environment Agency has many reasons and occasions for engaging with stakeholders and does so very frequently. Many of these are relatively formal, often statutory, consultations which are part of the determination of regulatory permits. Other consultations are part of the Agency's role as developer, for example in the construction of flood defence schemes. The Agency also consults nationally on its significant policies, such as the stocking of salmon fisheries. This paper gives some examples of lessons learnt from the Agency's own stakeholder engagements and also from our participation in those led by other organizations. In the next section it also describes the Agency's current approach to stakeholder consultation and engagement. (author)

  12. A Hybrid Machine Learning Method for Fusing fMRI and Genetic Data: Combining both Improves Classification of Schizophrenia

    Directory of Open Access Journals (Sweden)

    Honghui Yang

    2010-10-01

    Full Text Available We demonstrate a hybrid machine learning method to classify schizophrenia patients and healthy controls, using functional magnetic resonance imaging (fMRI and single nucleotide polymorphism (SNP data. The method consists of four stages: (1 SNPs with the most discriminating information between the healthy controls and schizophrenia patients are selected to construct a support vector machine ensemble (SNP-SVME. (2 Voxels in the fMRI map contributing to classification are selected to build another SVME (Voxel-SVME. (3 Components of fMRI activation obtained with independent component analysis (ICA are used to construct a single SVM classifier (ICA-SVMC. (4 The above three models are combined into a single module using a majority voting approach to make a final decision (Combined SNP-fMRI. The method was evaluated by a fully-validated leave-one-out method using 40 subjects (20 patients and 20 controls. The classification accuracy was: 0.74 for SNP-SVME, 0.82 for Voxel-SVME, 0.83 for ICA-SVMC, and 0.87 for Combined SNP-fMRI. Experimental results show that better classification accuracy was achieved by combining genetic and fMRI data than using either alone, indicating that genetic and brain function representing different, but partially complementary aspects, of schizophrenia etiopathology. This study suggests an effective way to reassess biological classification of individuals with schizophrenia, which is also potentially useful for identifying diagnostically important markers for the disorder.

  13. Developing an evaluation framework for clinical redesign programs: lessons learnt.

    Science.gov (United States)

    Samaranayake, Premaratne; Dadich, Ann; Fitzgerald, Anneke; Zeitz, Kathryn

    2016-09-19

    Purpose The purpose of this paper is to present lessons learnt through the development of an evaluation framework for a clinical redesign programme - the aim of which was to improve the patient journey through improved discharge practices within an Australian public hospital. Design/methodology/approach The development of the evaluation framework involved three stages - namely, the analysis of secondary data relating to the discharge planning pathway; the analysis of primary data including field-notes and interview transcripts on hospital processes; and the triangulation of these data sets to devise the framework. The evaluation framework ensured that resource use, process management, patient satisfaction, and staff well-being and productivity were each connected with measures, targets, and the aim of clinical redesign programme. Findings The application of business process management and a balanced scorecard enabled a different way of framing the evaluation, ensuring measurable outcomes were connected to inputs and outputs. Lessons learnt include: first, the importance of mixed-methods research to devise the framework and evaluate the redesigned processes; second, the need for appropriate tools and resources to adequately capture change across the different domains of the redesign programme; and third, the value of developing and applying an evaluative framework progressively. Research limitations/implications The evaluation framework is limited by its retrospective application to a clinical process redesign programme. Originality/value This research supports benchmarking with national and international practices in relation to best practice healthcare redesign processes. Additionally, it provides a theoretical contribution on evaluating health services improvement and redesign initiatives.

  14. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.

    1975-01-01

    Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells

  15. Combining Ability Analysis and Genetic-Effects Studies for Some Important Quality Characters in Brassica napus L.

    Directory of Open Access Journals (Sweden)

    Aamar Shehzad

    2015-10-01

    Full Text Available Combining ability analysis has an important position in rapeseed breeding. To evaluate genetic and combining ability effects, three Brassica napus L. testers “Punjab Sarson, Legend and Durre-NIFA” and five lines “Duncled, K-258, ZN-R-1, ZN-R-8, ZN-M-6” were crossed using line × tester design in Randomized Complete Block Design (RCBD with three replications. Mean sum of squares of the analysis of variances (ANOVA for genotypes was highly significant for all of the traits. Most of the lines and testers exhibited significant results of mean sum of squares for combining ability. Line ‘Duncled’ was proved good general combiner for oil (8.8, protein (3.7, erucic acid (33.0, oleic acid (13.0 and glucosinolate (-19.3 over other lines and tester ‘Durree-NIFA’ for protein (6.6, erucic acid (-23.4, and linolenic acid (-5.3 over other testers. Significant specific combining ability effects were also observed. The best hybrid combinations were Legend × ZN-R-1 for oil (9.6, Punjab Sarson × Duncled for minimum erucic acid (-14.0 and linolenic acid contents (-6.0, and Legend × ZN-M-6 for maximum protein (8.2 and minimum glucosinolate contents (-11.1. The maximum oil contents were observed in ‘Legend × ZN-R-1’ (52.4%. The cross ‘Punjab Sarson × Duncled’ expressed maximum values of protein (26.5% and oleic acid (62.5% while minimum for erucic acid (2.3%, linolenic acid (5.4% and glucosinolate contents (19.3µmol/g. This research discloses the significance of non-additive genetic effects for most of the studied traits except oil contents. These studies will also help to improve nutritional values of rapeseed crop by selecting noble crosses.

  16. Performance Analysis of Combined Methods of Genetic Algorithm and K-Means Clustering in Determining the Value of Centroid

    Science.gov (United States)

    Adya Zizwan, Putra; Zarlis, Muhammad; Budhiarti Nababan, Erna

    2017-12-01

    The determination of Centroid on K-Means Algorithm directly affects the quality of the clustering results. Determination of centroid by using random numbers has many weaknesses. The GenClust algorithm that combines the use of Genetic Algorithms and K-Means uses a genetic algorithm to determine the centroid of each cluster. The use of the GenClust algorithm uses 50% chromosomes obtained through deterministic calculations and 50% is obtained from the generation of random numbers. This study will modify the use of the GenClust algorithm in which the chromosomes used are 100% obtained through deterministic calculations. The results of this study resulted in performance comparisons expressed in Mean Square Error influenced by centroid determination on K-Means method by using GenClust method, modified GenClust method and also classic K-Means.

  17. Combined segregation and linkage analysis of genetic hemochromatosis using affection status, serum iron, and HLA.

    OpenAIRE

    Borecki, I B; Lathrop, G M; Bonney, G E; Yaouanq, J; Rao, D C

    1990-01-01

    Characterizing the distribution of parameters of iron metabolism by hemochromatosis genotype remains an important goal vis-à-vis potential screening strategies to identify individuals at genetic risk, since a specific marker to detect the abnormal gene has not been identified as yet. In the present investigation, we analyze serum iron values in ascertained families using a method which incorporates both segregation of the clinical affection status and the HLA linkage information to identify t...

  18. A combined genetic and multi medium approach revels new secondary metabolites in Aspergillus nidulans

    DEFF Research Database (Denmark)

    Klejnstrup, Marie Louise; Nielsen, Morten Thrane; Frisvad, Jens Christian

    Secondary metabolites are a diverse group of metabolites which serve as important natural sources of drugs for treating diseases. The availability of full genome sequences of several filamentous fungi has revealed a large genetic potential for production of secondary metabolites that are not obse......Secondary metabolites are a diverse group of metabolites which serve as important natural sources of drugs for treating diseases. The availability of full genome sequences of several filamentous fungi has revealed a large genetic potential for production of secondary metabolites...... that are not observed under standard laboratory conditions. Genetic approaches have proven a fruitfull strategy towards the production and identification of these unknown metabolites. Examples include deletion of the cclA1 and laeA2 genes in A. nidulans which affects the expression of secondary metabolites including...... monodictyphenone and terrequinone A respectively. We have deleted the cclA gene in A. nidulans and grown the mutants on several complex media to provoke the production of secondary metabolites. This resulted in the production of several metabolites not previously reported from A. nidulans. Some of these have been...

  19. How environmental and genetic factors combine to cause autism: A redox/methylation hypothesis.

    Science.gov (United States)

    Deth, Richard; Muratore, Christina; Benzecry, Jorge; Power-Charnitsky, Verna-Ann; Waly, Mostafa

    2008-01-01

    Recently higher rates of autism diagnosis suggest involvement of environmental factors in causing this developmental disorder, in concert with genetic risk factors. Autistic children exhibit evidence of oxidative stress and impaired methylation, which may reflect effects of toxic exposure on sulfur metabolism. We review the metabolic relationship between oxidative stress and methylation, with particular emphasis on adaptive responses that limit activity of cobalamin and folate-dependent methionine synthase. Methionine synthase activity is required for dopamine-stimulated phospholipid methylation, a unique membrane-delimited signaling process mediated by the D4 dopamine receptor that promotes neuronal synchronization and attention, and synchrony is impaired in autism. Genetic polymorphisms adversely affecting sulfur metabolism, methylation, detoxification, dopamine signaling and the formation of neuronal networks occur more frequently in autistic subjects. On the basis of these observations, a "redox/methylation hypothesis of autism" is described, in which oxidative stress, initiated by environment factors in genetically vulnerable individuals, leads to impaired methylation and neurological deficits secondary to reductions in the capacity for synchronizing neural networks.

  20. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  1. Nitrate leaching from a potato field using fuzzy inference system combined with genetic algorithm

    DEFF Research Database (Denmark)

    Shekofteh, Hosein; Afyuni, Majid M; Hajabbasi, Mohammad-Ali

    2012-01-01

    in MFIS were tuned by Genetic Algorithm. The correlation coefficient, normalized root mean square error and relative mean absolute error percentage between the data obtained by HYDRUS-2D and the estimated values using MFIS model were 0.986, 0.086 and 2.38 respectively. It appears that MFIS can predict......The conventional application of nitrogen fertilizers via irrigation is likely to be responsible for the increased nitrate concentration in groundwater of areas dominated by irrigated agriculture. This requires appropriate water and nutrient management to minimize groundwater pollution...

  2. Combined treatment with octreotide LAR and pegvisomant in patients with pituitary gigantism: clinical evaluation and genetic screening.

    Science.gov (United States)

    Mangupli, Ruth; Rostomyan, Liliya; Castermans, Emilie; Caberg, Jean-Hubert; Camperos, Paul; Krivoy, Jaime; Cuauro, Elvia; Bours, Vincent; Daly, Adrian F; Beckers, Albert

    2016-10-01

    Pituitary gigantism is a rare condition caused by growth hormone secreting hypersecretion, usually by a pituitary tumor. Acromegaly and gigantism cases that have a genetic cause are challenging to treat, due to large tumor size and poor responses to some medical therapies (e.g. AIP mutation affected cases and those with X-linked acrogigantism syndrome). We performed a retrospective study to identify gigantism cases among 160 somatotropinoma patients treated between 1985 and 2015 at the University Hospital of Caracas, Venezuela. We studied clinical details at diagnosis, hormonal responses to therapy and undertook targeted genetic testing. Among the 160 cases, eight patients (six males; 75 %) were diagnosed with pituitary gigantism and underwent genetic analysis that included array comparative genome hybridization for Xq26.3 duplications. All patients had GH secreting pituitary macroadenomas that were difficult to control with conventional treatment options, such as surgery or primary somatostatin receptor ligand (SRL) therapy. Combined therapy (long-acting SRL and pegvisomant) as primary treatment or after pituitary surgery and radiotherapy permitted the normalization of IGF-1 levels and clinical improvement. Novel AIP mutations were the found in three patients. None of the patients had Xq26.3 microduplications. Treatment of pituitary gigantism is frequently challenging; delayed control increases the harmful effects of GH excess, such as, excessive stature and symptom burden, so early diagnosis and effective treatment are particularly important in these cases.

  3. Application of a hybrid method based on the combination of genetic algorithm and Hopfield neural network for burnable poison placement

    International Nuclear Information System (INIS)

    Khoshahval, F.; Fadaei, A.

    2012-01-01

    Highlights: ► The performance of GA, HNN and combination of them in BPP optimization in PWR core are adequate. ► It seems HNN + GA arrives to better final parameter value in comparison with the two other methods. ► The computation time for HNN + GA is higher than GA and HNN. Thus a trade-off is necessary. - Abstract: In the last decades genetic algorithm (GA) and Hopfield Neural Network (HNN) have attracted considerable attention for the solution of optimization problems. In this paper, a hybrid optimization method based on the combination of the GA and HNN is introduced and applied to the burnable poison placement (BPP) problem to increase the quality of the results. BPP in a nuclear reactor core is a combinatorial and complicated problem. Arrangement and the worth of the burnable poisons (BPs) has an impressive effect on the main control parameters of a nuclear reactor. Improper design and arrangement of the BPs can be dangerous with respect to the nuclear reactor safety. In this paper, increasing BP worth along with minimizing the radial power peaking are considered as objective functions. Three optimization algorithms, genetic algorithm, Hopfield neural network optimization and a hybrid optimization method, are applied to the BPP problem and their efficiencies are compared. The hybrid optimization method gives better result in finding a better BP arrangement.

  4. Genetic Performance and General Combining Ability of Oil Palm Deli dura x AVROS pisifera Tested on Inland Soils

    Science.gov (United States)

    Noh, A.; Rafii, M. Y.; Saleh, G.; Kushairi, A.; Latif, M. A.

    2012-01-01

    The performance of 11 oil palm AVROS (Algemene Vereniging van Rubberplanters ter Oostkust van Sumatra) pisiferas was evaluated based on their 40 dura x pisifera (DxP) progenies tested on inland soils, predominantly of Serdang Series. Fresh fruit bunch (FFB) yield of each pisiferas ranged from 121.93 to 143.9 kg palm−1 yr−1 with trial mean of 131.62 kg palm−1 yr−1. Analysis of variance (ANOVA) showed low genetic variability among pisifera parents for most of the characters indicating uniformity of the pisifera population. This was anticipated as the AVROS pisiferas were derived from small population and were inbred materials. However, some of the pisiferas have shown good general combining ability (GCA) for certain important economic traits. Three pisiferas (P1 (0.174/247), P3 (0.174/498), P11 (0.182/308)) were identified of having good GCA for FFB yield while pisiferas P1 (0.174/247), P10 (0.182/348), and P11 (0.182/308) were good combiners for oil-to-bunch ratio (O/B). The narrow genetic base of these materials was the main obstacle in breeding and population improvement. However, efforts have been made to introgress this material with the vast oil palm germplasm collections of MPOB for rectifying the problem. PMID:22701095

  5. Genetic Performance and General Combining Ability of Oil Palm Deli dura x AVROS pisifera Tested on Inland Soils

    Directory of Open Access Journals (Sweden)

    A. Noh

    2012-01-01

    Full Text Available The performance of 11 oil palm AVROS (Algemene Vereniging van Rubberplanters ter Oostkust van Sumatra pisiferas was evaluated based on their 40 dura x pisifera (DxP progenies tested on inland soils, predominantly of Serdang Series. Fresh fruit bunch (FFB yield of each pisiferas ranged from 121.93 to 143.9 kg palm−1 yr−1 with trial mean of 131.62 kg palm−1 yr−1. Analysis of variance (ANOVA showed low genetic variability among pisifera parents for most of the characters indicating uniformity of the pisifera population. This was anticipated as the AVROS pisiferas were derived from small population and were inbred materials. However, some of the pisiferas have shown good general combining ability (GCA for certain important economic traits. Three pisiferas (P1 (0.174/247, P3 (0.174/498, P11 (0.182/308 were identified of having good GCA for FFB yield while pisiferas P1 (0.174/247, P10 (0.182/348, and P11 (0.182/308 were good combiners for oil-to-bunch ratio (O/B. The narrow genetic base of these materials was the main obstacle in breeding and population improvement. However, efforts have been made to introgress this material with the vast oil palm germplasm collections of MPOB for rectifying the problem.

  6. A Hybrid Computational Intelligence Approach Combining Genetic Programming And Heuristic Classification for Pap-Smear Diagnosis

    DEFF Research Database (Denmark)

    Tsakonas, Athanasios; Dounias, Georgios; Jantzen, Jan

    2001-01-01

    The paper suggests the combined use of different computational intelligence (CI) techniques in a hybrid scheme, as an effective approach to medical diagnosis. Getting to know the advantages and disadvantages of each computational intelligence technique in the recent years, the time has come...

  7. Population genetic data for six non-combined DNA index system ...

    African Journals Online (AJOL)

    The respective values for the combined power of exclusion in these populations were 0.94 and 0.99. The allele frequency data generated can be used for estimating DNA profile frequencies for the studied populations residing in South Africa. Key words: Allele frequencies, MiniSTR, DNA typing, population data, South Africa ...

  8. Genetic effects of prolonged combined irradiation of laboratory animals in Chernobyl Atomic Power Plant alienation zone

    International Nuclear Information System (INIS)

    Savtsova, Z.D.; Vojejkova, Yi.M.; Dzhaman, N.Yi.; Yudyina, O.Yu.; Yindik, V.M.; Kovbasyuk, S.A.

    2000-01-01

    Prolonged combined (external and internal) irradiation of mice in the r zone of the Chernobyl Atomic Power Plant caused hereditary disturbances physiological defects in the posterity irrespective of the fact if one or both parents were irradiated. The most favourable indices were observed in F2 posterity of the both exposed parents

  9. Genetics and regulation of combined abiotic and biotic stress tolerance in tomato

    NARCIS (Netherlands)

    Kissoudis, C.

    2016-01-01

    Projections on the impact of climate change on agricultural productivity foresee prolonged and/or increased stress intensities and enlargement of a significant number of pathogens habitats. This significantly raises the occurrence probability of (new) abiotic and biotic stress combinations. With

  10. Defining management units for cetaceans by combining genetics, morphlogy, acoustics and satellite tracking

    DEFF Research Database (Denmark)

    Sveegaard, Signe; Galatius, Anders; Dietz, Rune

    2015-01-01

    Managing animal units is essential in biological conservation and requires spatial and temporal identification of such units. Since even neighbouring populations often have different conservation status and face different levels of anthropogenic pressure, detailed knowledge of population structure......, seasonal range and overlap with animals from neighbouring populations is required to manage each unit separately. Previous studies on genetic structure and morphologic separation suggests three distinct populations of harbour porpoises with limited geographic overlap in the North Sea (NS), the Belt Sea (BS...... with the least overlap between populations and thus the least error when abundance and population status is estimated. Discriminant analysis of the satellite tracking data from the BS and NS populations showed that the best fit of the management unit border during the summer months was an east-west line from...

  11. The effect of ultrasound and its combination with radiation on the genetic material of Saccharomyces cerevisiae

    International Nuclear Information System (INIS)

    Silhankova, L.; Malkova-Kadlecova, Z.; Studlarova, Z.

    1978-01-01

    Ultrasonic radiation at 20 kHz with intensity 35 W/cm 2 and amplitude 15 to 25 μm applied to a diploid strain of Saccharomyces cerevisiae was found to act as a weak mutagen with maximum efficiency at the 20% survival of the cells. Under these conditions, the frequency of reversion of the suppressible allele ilv1-92 increased ten times, the frequency of mitotic gene conversion four times. Doses leading to survivals lower than 20% led to a slight increase in the frequency of cytoplasmic respiration-deficient mutants. Submutagenic doses applied immediately after γ or UV irradiation did not substantially increase the effect of these physical agents on the genetic material of the yeast strain investigated. Application of ultrasound prior to UV radiation did not considerably influence the effect of the UV radiation either. (author)

  12. Traditional Amerindian cultivators combine directional and ideotypic selection for sustainable management of cassava genetic diversity.

    Science.gov (United States)

    Duputié, A; Massol, F; David, P; Haxaire, C; McKey, D

    2009-06-01

    Plant domestication provides striking examples of rapid evolution. Yet, it involves more complex processes than plain directional selection. Understanding the dynamics of diversity in traditional agroecosystems is both a fundamental goal in evolutionary biology and a practical goal in conservation. We studied how Amerindian cultivators maintain dynamically evolving gene pools in cassava. Farmers purposely maintain diversity in the form of phenotypically distinct, clonally propagated landraces. Landrace gene pools are continuously renewed by incorporating seedlings issued from spontaneous sexual reproduction. This poses two problems: agronomic quality may decrease because some seedlings are inbred, and landrace identity may be progressively lost through the incorporation of unrelated seedlings. Using a large microsatellite dataset, we show that farmers solve these problems by applying two kinds of selection: directional selection against inbred genotypes, and counter-selection of off-type phenotypes, which maintains high intra-landrace relatedness. Thus, cultural elements such as ideotypes (a representation of the ideal phenotype of a landrace) can shape genetic diversity.

  13. Defining management units for cetaceans by combining genetics, morphology, acoustics and satellite tracking

    Directory of Open Access Journals (Sweden)

    Signe Sveegaard

    2015-01-01

    Full Text Available Managing animal units is essential in biological conservation and requires spatial and temporal identification of such units. Since even neighbouring populations often have different conservation status and face different levels of anthropogenic pressure, detailed knowledge of population structure, seasonal range and overlap with animals from neighbouring populations is required to manage each unit separately. Previous studies on genetic structure and morphologic separation suggests three distinct populations of harbour porpoises with limited geographic overlap in the North Sea (NS, the Belt Sea (BS and the Baltic Proper (BP region. In this study, we aim to identify a management unit for the BS population of harbour porpoises. We use Argos satellite data and genetics from biopsies of tagged harbour porpoises as well as acoustic data from 40 passive acoustic data loggers to determine management areas with the least overlap between populations and thus the least error when abundance and population status is estimated. Discriminant analysis of the satellite tracking data from the BS and NS populations showed that the best fit of the management unit border during the summer months was an east–west line from Denmark to Sweden at latitude 56.95°N. For the border between BS and BP, satellite tracking data indicate a sharp decline in population density at 13.5°E, with 90% of the locations being west of this line. This was supported by the acoustic data with the average daily detection rate being 27.5 times higher west of 13.5°E as compared to east of 13.5°E. By using this novel multidisciplinary approach, we defined a management unit for the BS harbour porpoise population. We recommend that these boundaries are used for future monitoring efforts of this population under the EU directives. The boundaries may also be used for conservation efforts during the summer months, while seasonal movements of harbour porpoises should be considered during

  14. Twenty years of ABACC: Accomplishments, lessons learnt and future perspectives

    Energy Technology Data Exchange (ETDEWEB)

    Peixoto, Orpet J.M. [ABACC- Brazilian Argentine Agency for Accounting and Control of Nuclear Materials, Rio de Janeiro (Brazil)

    2012-06-15

    From the inception of the implementation of the Quadripartite Agreement (INFCIRC/435), in 1991, ABACC has had an important role at the non-proliferation agenda and has also been an active player in the international safeguards. It was necessary for ABACC to develop a technical capacity to face the challenges to be a safeguards agency and to gain credibility in the nuclear safeguards world. This capacity means to develop and implement safeguards systems in the technical area, in the inspection framework, in the conceptual analysis of processes and approaches and in the political scenario. These tasks conducted the strategic plan of ABACC on the last 20 years. Among the accomplishments, ABACC has been involved in the application of safeguards to sensitive and complex installations, in developing safeguards instrumentation, in establishing a technical and trained inspectorate, in constructing a cooperative and coordinate environment with IAEA for safeguards application. Other challenges as R and D of equipment and quality assurance systems were also managed during all these years. ESARDA is one forum that ABACC is involved and always shares experience and ideas. On July 18th, 2011 ABACC will formally complete 20 years. This paper summarizes the accomplishments, lessons learnt and future actions for strengthen the ABACC safeguards role. It also addresses the collaboration of ABACC with other organizations in the non-proliferation and international safeguards arena.

  15. Saliency Detection via Absorbing Markov Chain With Learnt Transition Probability.

    Science.gov (United States)

    Lihe Zhang; Jianwu Ai; Bowen Jiang; Huchuan Lu; Xiukui Li

    2018-02-01

    In this paper, we propose a bottom-up saliency model based on absorbing Markov chain (AMC). First, a sparsely connected graph is constructed to capture the local context information of each node. All image boundary nodes and other nodes are, respectively, treated as the absorbing nodes and transient nodes in the absorbing Markov chain. Then, the expected number of times from each transient node to all other transient nodes can be used to represent the saliency value of this node. The absorbed time depends on the weights on the path and their spatial coordinates, which are completely encoded in the transition probability matrix. Considering the importance of this matrix, we adopt different hierarchies of deep features extracted from fully convolutional networks and learn a transition probability matrix, which is called learnt transition probability matrix. Although the performance is significantly promoted, salient objects are not uniformly highlighted very well. To solve this problem, an angular embedding technique is investigated to refine the saliency results. Based on pairwise local orderings, which are produced by the saliency maps of AMC and boundary maps, we rearrange the global orderings (saliency value) of all nodes. Extensive experiments demonstrate that the proposed algorithm outperforms the state-of-the-art methods on six publicly available benchmark data sets.

  16. Biological and genetic effects of combined treatments of sodium azide, gamma rays and EMS in barley

    International Nuclear Information System (INIS)

    Cheng, X.Y.; Gao, M.W.

    1988-01-01

    Dry seeds of diploid barley were subjected to mutagenic treatments of sodium azide, gamma rays and EMS alone or in combination. Damage (reduction in seedling height, plant height and fertility), the frequency of chimeras in the M1 generation, and the frequency of chlorophyll-deficient mutations as well as morphological mutations in the M2 generation induced by combined treatments were greater than those by either of the single treatments. Synergistic increase in the frequency of chimeras, chlorphyll-deficient mutations and morphological mutations were observed in both sodium azide post-irradiation treatments and pre-EMS treatments; interaction among the mutagens in the treatment combinations on M1 damage was generally subtractive. An 8- to 16-hr soaking period of irradiated seeds in distilled water prior to sodium azide treatment significantly increased chlorophyll mutation frequency, as compared to that from the non-soaking treatment. Damage and frequency of chimeras, chlorophyll mutations and morphological mutations were consistently reduced by the soaking treatment in sodium azide plus EMS treatments. (author)

  17. Genetic variability of hepatitis C virus before and after combined therapy of interferon plus ribavirin.

    Science.gov (United States)

    Cuevas, José Manuel; Torres-Puente, Manuela; Jiménez-Hernández, Nuria; Bracho, María Alma; García-Robles, Inmaculada; Wrobel, Boris; Carnicer, Fernando; del Olmo, Juan; Ortega, Enrique; Moya, Andrés; González-Candelas, Fernando

    2008-08-26

    We present an analysis of the selective forces acting on two hepatitis C virus genome regions previously postulated to be involved in the viral response to combined antiviral therapy. One includes the three hypervariable regions in the envelope E2 glycoprotein, and the other encompasses the PKR binding domain and the V3 domain in the NS5A region. We used a cohort of 22 non-responder patients to combined therapy (interferon alpha-2a plus ribavirin) for which samples were obtained before initiation of therapy and after 6 or/and 12 months of treatment. A range of 25-100 clones per patient, genome region and time sample were sequenced. These were used to detect general patterns of adaptation, to identify particular adaptation mechanisms and to analyze the patterns of evolutionary change in both genome regions. These analyses failed to detect a common adaptive mechanism for the lack of response to antiviral treatment in these patients. On the contrary, a wide range of situations were observed, from patients showing no positively selected sites to others with many, and with completely different topologies in the reconstructed phylogenetic trees. Altogether, these results suggest that viral strategies to evade selection pressure from the immune system and antiviral therapies do not result from a single mechanism and they are likely based on a range of different alternatives, in which several different changes, or their combination, along the HCV genome confer viruses the ability to overcome strong selective pressures.

  18. Genetic variability of hepatitis C virus before and after combined therapy of interferon plus ribavirin.

    Directory of Open Access Journals (Sweden)

    José Manuel Cuevas

    2008-08-01

    Full Text Available We present an analysis of the selective forces acting on two hepatitis C virus genome regions previously postulated to be involved in the viral response to combined antiviral therapy. One includes the three hypervariable regions in the envelope E2 glycoprotein, and the other encompasses the PKR binding domain and the V3 domain in the NS5A region. We used a cohort of 22 non-responder patients to combined therapy (interferon alpha-2a plus ribavirin for which samples were obtained before initiation of therapy and after 6 or/and 12 months of treatment. A range of 25-100 clones per patient, genome region and time sample were sequenced. These were used to detect general patterns of adaptation, to identify particular adaptation mechanisms and to analyze the patterns of evolutionary change in both genome regions. These analyses failed to detect a common adaptive mechanism for the lack of response to antiviral treatment in these patients. On the contrary, a wide range of situations were observed, from patients showing no positively selected sites to others with many, and with completely different topologies in the reconstructed phylogenetic trees. Altogether, these results suggest that viral strategies to evade selection pressure from the immune system and antiviral therapies do not result from a single mechanism and they are likely based on a range of different alternatives, in which several different changes, or their combination, along the HCV genome confer viruses the ability to overcome strong selective pressures.

  19. Combined genetic algorithm and multiple linear regression (GA-MLR) optimizer: Application to multi-exponential fluorescence decay surface.

    Science.gov (United States)

    Fisz, Jacek J

    2006-12-07

    The optimization approach based on the genetic algorithm (GA) combined with multiple linear regression (MLR) method, is discussed. The GA-MLR optimizer is designed for the nonlinear least-squares problems in which the model functions are linear combinations of nonlinear functions. GA optimizes the nonlinear parameters, and the linear parameters are calculated from MLR. GA-MLR is an intuitive optimization approach and it exploits all advantages of the genetic algorithm technique. This optimization method results from an appropriate combination of two well-known optimization methods. The MLR method is embedded in the GA optimizer and linear and nonlinear model parameters are optimized in parallel. The MLR method is the only one strictly mathematical "tool" involved in GA-MLR. The GA-MLR approach simplifies and accelerates considerably the optimization process because the linear parameters are not the fitted ones. Its properties are exemplified by the analysis of the kinetic biexponential fluorescence decay surface corresponding to a two-excited-state interconversion process. A short discussion of the variable projection (VP) algorithm, designed for the same class of the optimization problems, is presented. VP is a very advanced mathematical formalism that involves the methods of nonlinear functionals, algebra of linear projectors, and the formalism of Fréchet derivatives and pseudo-inverses. Additional explanatory comments are added on the application of recently introduced the GA-NR optimizer to simultaneous recovery of linear and weakly nonlinear parameters occurring in the same optimization problem together with nonlinear parameters. The GA-NR optimizer combines the GA method with the NR method, in which the minimum-value condition for the quadratic approximation to chi(2), obtained from the Taylor series expansion of chi(2), is recovered by means of the Newton-Raphson algorithm. The application of the GA-NR optimizer to model functions which are multi

  20. Intelligent Modeling Combining Adaptive Neuro Fuzzy Inference System and Genetic Algorithm for Optimizing Welding Process Parameters

    Science.gov (United States)

    Gowtham, K. N.; Vasudevan, M.; Maduraimuthu, V.; Jayakumar, T.

    2011-04-01

    Modified 9Cr-1Mo ferritic steel is used as a structural material for steam generator components of power plants. Generally, tungsten inert gas (TIG) welding is preferred for welding of these steels in which the depth of penetration achievable during autogenous welding is limited. Therefore, activated flux TIG (A-TIG) welding, a novel welding technique, has been developed in-house to increase the depth of penetration. In modified 9Cr-1Mo steel joints produced by the A-TIG welding process, weld bead width, depth of penetration, and heat-affected zone (HAZ) width play an important role in determining the mechanical properties as well as the performance of the weld joints during service. To obtain the desired weld bead geometry and HAZ width, it becomes important to set the welding process parameters. In this work, adaptative neuro fuzzy inference system is used to develop independent models correlating the welding process parameters like current, voltage, and torch speed with weld bead shape parameters like depth of penetration, bead width, and HAZ width. Then a genetic algorithm is employed to determine the optimum A-TIG welding process parameters to obtain the desired weld bead shape parameters and HAZ width.

  1. Application of molecular imaging combined with genetic screening in diagnosing MELAS, diabetes and recurrent pancreatitis.

    Science.gov (United States)

    Zhiping, W; Quwen, L; Hai, Z; Jian, Z; Peiyi, G

    2016-01-01

    We report molecular imaging combined with gene diagnosis in a family with 7 members who carried an A3243G mutation in mitochondrial tRNA and p.Thr 137 Met in cationic trypsinogen (PRSS1) gene presented with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), diabetes, and recurrent pancreatitis. DNA sequencing was used to detect and validate mitochondrial DNA and PRSS1. We also verified that mitochondrial heterozygous mutations and c.410 C>T mutation causing p.Thr 137 Met could be detected in oral epithelial cells or in urine sediment cells. In addition, molecular imaging was carried out in the affected family members. In this pedigree, MELAS syndrome accompanied by pancreatitis was an important clinical feature, followed by diabetes. Heteroplasmy of the mtDNA A3243G and c.410 C>T mutation of PRSS1 was found in all tissue samples of these patients, but no mutations were found in 520 normal control and normal individuals of the family. However, based on molecular imaging observations, patients with relatively higher lactate/pyruvate levels had more typical and more severe symptoms, particularly those of pancreatic disease (diabetes or pancreatitis). MELAS syndrome may be associated with pancreatitis. For the diagnosis, it is more reasonable to perform molecular imaging combined with gene diagnosis.

  2. Predicting cell types and genetic variations contributing to disease by combining GWAS and epigenetic data.

    Directory of Open Access Journals (Sweden)

    Anna Gerasimova

    Full Text Available Genome-wide association studies (GWASs identify single nucleotide polymorphisms (SNPs that are enriched in individuals suffering from a given disease. Most disease-associated SNPs fall into non-coding regions, so that it is not straightforward to infer phenotype or function; moreover, many SNPs are in tight genetic linkage, so that a SNP identified as associated with a particular disease may not itself be causal, but rather signify the presence of a linked SNP that is functionally relevant to disease pathogenesis. Here, we present an analysis method that takes advantage of the recent rapid accumulation of epigenomics data to address these problems for some SNPs. Using asthma as a prototypic example; we show that non-coding disease-associated SNPs are enriched in genomic regions that function as regulators of transcription, such as enhancers and promoters. Identifying enhancers based on the presence of the histone modification marks such as H3K4me1 in different cell types, we show that the location of enhancers is highly cell-type specific. We use these findings to predict which SNPs are likely to be directly contributing to disease based on their presence in regulatory regions, and in which cell types their effect is expected to be detectable. Moreover, we can also predict which cell types contribute to a disease based on overlap of the disease-associated SNPs with the locations of enhancers present in a given cell type. Finally, we suggest that it will be possible to re-analyze GWAS studies with much higher power by limiting the SNPs considered to those in coding or regulatory regions of cell types relevant to a given disease.

  3. Genetically encoded calcium indicators for multi-color neural activity imaging and combination with optogenetics

    Directory of Open Access Journals (Sweden)

    Jasper eAkerboom

    2013-03-01

    Full Text Available Genetically encoded calcium indicators (GECIs are powerful tools for systems neuroscience. Here we describe red, single-wavelength GECIs, RCaMPs, engineered from circular permutation of the thermostable red fluorescent protein mRuby. High-resolution crystal structures of mRuby, the red sensor RCaMP, and the recently published red GECI R-GECO1 give insight into the chromophore environments of the Ca2+-bound state of the sensors and the engineered protein domain interfaces of the different indicators. We characterized the biophysical properties and performance of RCaMP sensors in vitro and in vivo in Caenorhabditis elegans, Drosophila larvae, and larval zebrafish. Further, we demonstrate 2-color calcium imaging both within the same cell (registering mitochondrial and somatic [Ca2+] and between two populations of cells: neurons and astrocytes. Finally, we perform integrated optogenetics experiments, wherein neural activation via channelrhodopsin-2 (ChR2 or a red-shifted variant, and activity imaging via RCaMP or GCaMP, are conducted simultaneously, with the ChR2/RCaMP pair providing independently addressable spectral channels. Using this paradigm, we measure calcium responses of naturalistic and ChR2-evoked muscle contractions in vivo in crawling C. elegans. We systematically compare the RCaMP sensors to R-GECO1, in terms of action potential-evoked fluorescence increases in neurons, photobleaching, and photoswitching. R-GECO1 displays higher Ca2+ affinity and larger dynamic range than RCaMP, but exhibits significant photoactivation with blue and green light, suggesting that integrated channelrhodopsin-based optogenetics using R-GECO1 may be subject to artifact. Finally, we create and test blue, cyan and yellow variants engineered from GCaMP by rational design. This engineered set of chromatic variants facilitates new experiments in functional imaging and optogenetics.

  4. Modifications to the Patient Rule-Induction Method that utilize non-additive combinations of genetic and environmental effects to define partitions that predict ischemic heart disease

    DEFF Research Database (Denmark)

    Dyson, Greg; Frikke-Schmidt, Ruth; Nordestgaard, Børge G

    2009-01-01

    This article extends the Patient Rule-Induction Method (PRIM) for modeling cumulative incidence of disease developed by Dyson et al. (Genet Epidemiol 31:515-527) to include the simultaneous consideration of non-additive combinations of predictor variables, a significance test of each combination,...

  5. Altered expression of MGMT in high-grade gliomas results from the combined effect of epigenetic and genetic aberrations.

    Directory of Open Access Journals (Sweden)

    João Ramalho-Carvalho

    Full Text Available MGMT downregulation in high-grade gliomas (HGG has been mostly attributed to aberrant promoter methylation and is associated with increased sensitivity to alkylating agent-based chemotherapy. However, HGG harboring 10q deletions also benefit from treatment with alkylating agents. Because the MGMT gene is mapped at 10q26, we hypothesized that both epigenetic and genetic alterations might affect its expression and predict response to chemotherapy. To test this hypothesis, promoter methylation and mRNA levels of MGMT were determined by quantitative methylation-specific PCR (qMSP or methylation-specific multiplex ligation dependent probe amplification (MS-MLPA and quantitative RT-PCR, respectively, in a retrospective series of 61 HGG. MGMT/chromosome 10 copy number variations were determined by FISH or MS-MLPA analysis. Molecular findings were correlated with clinical parameters to assess their predictive value. Overall, MGMT methylation ratios assessed by qMSP and MS-MLPA were inversely correlated with mRNA expression levels (best coefficient value obtained with MS-MLPA. By FISH analysis in 68.3% of the cases there was loss of 10q26.1 and in 15% of the cases polysomy was demonstrated; the latter displayed the highest levels of transcript. When genetic and epigenetic data were combined, cases with MGMT promoter methylation and MGMT loss depicted the lowest transcript levels, although an impact in response to alkylating agent chemotherapy was not apparent. Cooperation between epigenetic (promoter methylation and genetic (monosomy, locus deletion changes affecting MGMT in HGG is required for effective MGMT silencing. Hence, evaluation of copy number alterations might add relevant prognostic and predictive information concerning response to alkylating agent-based chemotherapy.

  6. Estimating parametric phenotypes that determine anthesis date in Zea mays: Challenges in combining ecophysiological models with genetics

    Science.gov (United States)

    Welch, Stephen M.; White, Jeffrey W.; Thorp, Kelly R.; Bello, Nora M.

    2018-01-01

    Ecophysiological crop models encode intra-species behaviors using parameters that are presumed to summarize genotypic properties of individual lines or cultivars. These genotype-specific parameters (GSP’s) can be interpreted as quantitative traits that can be mapped or otherwise analyzed, as are more conventional traits. The goal of this study was to investigate the estimation of parameters controlling maize anthesis date with the CERES-Maize model, based on 5,266 maize lines from 11 plantings at locations across the eastern United States. High performance computing was used to develop a database of 356 million simulated anthesis dates in response to four CERES-Maize model parameters. Although the resulting estimates showed high predictive value (R2 = 0.94), three issues presented serious challenges for use of GSP’s as traits. First (expressivity), the model was unable to express the observed data for 168 to 3,339 lines (depending on the combination of site-years), many of which ended up sharing the same parameter value irrespective of genetics. Second, for 2,254 lines, the model reproduced the data, but multiple parameter sets were equally effective (equifinality). Third, parameter values were highly dependent (p<10−6919) on the sets of environments used to estimate them (instability), calling in to question the assumption that they represent fundamental genetic traits. The issues of expressivity, equifinality and instability must be addressed before the genetic mapping of GSP’s becomes a robust means to help solve the genotype-to-phenotype problem in crops. PMID:29672629

  7. GANN: Genetic algorithm neural networks for the detection of conserved combinations of features in DNA

    Directory of Open Access Journals (Sweden)

    Beiko Robert G

    2005-02-01

    Full Text Available Abstract Background The multitude of motif detection algorithms developed to date have largely focused on the detection of patterns in primary sequence. Since sequence-dependent DNA structure and flexibility may also play a role in protein-DNA interactions, the simultaneous exploration of sequence- and structure-based hypotheses about the composition of binding sites and the ordering of features in a regulatory region should be considered as well. The consideration of structural features requires the development of new detection tools that can deal with data types other than primary sequence. Results GANN (available at http://bioinformatics.org.au/gann is a machine learning tool for the detection of conserved features in DNA. The software suite contains programs to extract different regions of genomic DNA from flat files and convert these sequences to indices that reflect sequence and structural composition or the presence of specific protein binding sites. The machine learning component allows the classification of different types of sequences based on subsamples of these indices, and can identify the best combinations of indices and machine learning architecture for sequence discrimination. Another key feature of GANN is the replicated splitting of data into training and test sets, and the implementation of negative controls. In validation experiments, GANN successfully merged important sequence and structural features to yield good predictive models for synthetic and real regulatory regions. Conclusion GANN is a flexible tool that can search through large sets of sequence and structural feature combinations to identify those that best characterize a set of sequences.

  8. Combining bio-electrospraying with gene therapy: a novel biotechnique for the delivery of genetic material via living cells.

    Science.gov (United States)

    Ward, Eliot; Chan, Emma; Gustafsson, Kenth; Jayasinghe, Suwan N

    2010-05-01

    The investigations reported in this article demonstrate the ability of bio-electrosprays and cell electrospinning to deliver a genetic construct in association with living cells. Previous studies on both bio-electrosprays and cell electrospinning demonstrated great promise for tissue engineering and regenerative biology/medicine. The investigations described herein widen the applicability of these biotechniques by combining gene therapy protocols, resulting in a novel drug delivery methodology previously unexplored. In these studies a human cell line was transduced with recombinant self-inactivating lentiviral particles. These particles incorporated a green fluorescent protein fused to an endosomal targeting construct. This construct encodes a peptide, which can subsequently be detected on the surface of cells by specific T-cells. The transduced cell line was subsequently manipulated in association with either bio-electrospraying or cell electrospinning. Hence this demonstrates (i) the ability to safely handle genetically modified living cells and (ii) the ability to directly form pre-determined architectures bearing living therapeutic cells. This merged technology demonstrates a unique approach for directly forming living therapeutic architectures for controlled and targeted release of experimental cells/genes, as well as medical cell/gene therapeutics for a plethora of biological and medical applications. Hence, such developments could be applied to personalised medicine.

  9. Combining high-throughput phenotyping and genome-wide association studies to reveal natural genetic variation in rice

    Science.gov (United States)

    Yang, Wanneng; Guo, Zilong; Huang, Chenglong; Duan, Lingfeng; Chen, Guoxing; Jiang, Ni; Fang, Wei; Feng, Hui; Xie, Weibo; Lian, Xingming; Wang, Gongwei; Luo, Qingming; Zhang, Qifa; Liu, Qian; Xiong, Lizhong

    2014-01-01

    Even as the study of plant genomics rapidly develops through the use of high-throughput sequencing techniques, traditional plant phenotyping lags far behind. Here we develop a high-throughput rice phenotyping facility (HRPF) to monitor 13 traditional agronomic traits and 2 newly defined traits during the rice growth period. Using genome-wide association studies (GWAS) of the 15 traits, we identify 141 associated loci, 25 of which contain known genes such as the Green Revolution semi-dwarf gene, SD1. Based on a performance evaluation of the HRPF and GWAS results, we demonstrate that high-throughput phenotyping has the potential to replace traditional phenotyping techniques and can provide valuable gene identification information. The combination of the multifunctional phenotyping tools HRPF and GWAS provides deep insights into the genetic architecture of important traits. PMID:25295980

  10. Combined genetic and pharmacological inhibition of TRPV1 and P2X3 attenuates colorectal hypersensitivity and afferent sensitization

    Science.gov (United States)

    Kiyatkin, Michael E.; Feng, Bin; Schwartz, Erica S.

    2013-01-01

    The ligand-gated channels transient receptor potential vanilloid 1 (TRPV1) and P2X3 have been reported to facilitate colorectal afferent neuron sensitization, thus contributing to organ hypersensitivity and pain. In the present study, we hypothesized that TRPV1 and P2X3 cooperate to modulate colorectal nociception and afferent sensitivity. To test this hypothesis, we employed TRPV1-P2X3 double knockout (TPDKO) mice and channel-selective pharmacological antagonists and evaluated combined channel contributions to behavioral responses to colorectal distension (CRD) and afferent fiber responses to colorectal stretch. Baseline responses to CRD were unexpectedly greater in TPDKO compared with control mice, but zymosan-produced CRD hypersensitivity was absent in TPDKO mice. Relative to control mice, proportions of mechanosensitive and -insensitive pelvic nerve afferent classes were not different in TPDKO mice. Responses of mucosal and serosal class afferents to mechanical probing were unaffected, whereas responses of muscular (but not muscular/mucosal) afferents to stretch were significantly attenuated in TPDKO mice; sensitization of both muscular and muscular/mucosal afferents by inflammatory soup was also significantly attenuated. In pharmacological studies, the TRPV1 antagonist A889425 and P2X3 antagonist TNP-ATP, alone and in combination, applied onto stretch-sensitive afferent endings attenuated responses to stretch; combined antagonism produced greater attenuation. In the aggregate, these observations suggest that 1) genetic manipulation of TRPV1 and P2X3 leads to reduction in colorectal mechanosensation peripherally and compensatory changes and/or disinhibition of other channels centrally, 2) combined pharmacological antagonism produces more robust attenuation of mechanosensation peripherally than does antagonism of either channel alone, and 3) the relative importance of these channels appears to be enhanced in colorectal hypersensitivity. PMID:23989007

  11. Combined M-FISH and CGH analysis allows comprehensive description of genetic alterations in neuroblastoma cell lines.

    Science.gov (United States)

    Van Roy, N; Van Limbergen, H; Vandesompele, J; Van Gele, M; Poppe, B; Salwen, H; Laureys, G; Manoel, N; De Paepe, A; Speleman, F

    2001-10-01

    Cancer cell lines are essential gene discovery tools and have often served as models in genetic and functional studies of particular tumor types. One of the future challenges is comparison and interpretation of gene expression data with the available knowledge on the genomic abnormalities in these cell lines. In this context, accurate description of these genomic abnormalities is required. Here, we show that a combination of M-FISH with banding analysis, standard FISH, and CGH allowed a detailed description of the genetic alterations in 16 neuroblastoma cell lines. In total, 14 cryptic chromosome rearrangements were detected, including a balanced t(2;4)(p24.3;q34.3) translocation in cell line NBL-S, with the 2p24 breakpoint located at about 40 kb from MYCN. The chromosomal origin of 22 marker chromosomes and 41 cytogenetically undefined translocated segments was determined. Chromosome arm 2 short arm translocations were observed in six cell lines (38%) with and five (31%) without MYCN amplification, leading to partial chromosome arm 2p gain in all but one cell line and loss of material in the various partner chromosomes, including 1p and 11q. These 2p gains were often masked in the GGH profiles due to MYCN amplification. The commonly overrepresented region was chromosome segment 2pter-2p22, which contains the MYCN gene, and five out of eleven 2p breakpoints clustered to the interface of chromosome bands 2p16 and 2p21. In neuroblastoma cell line SJNB-12, with double minutes (dmins) but no MYCN amplification, the dmins were shown to be derived from 16q22-q23 sequences. The ATBF1 gene, an AT-binding transcription factor involved in normal neurogenesis and located at 16q22.2, was shown to be present in the amplicon. This is the first report describing the possible implication of ATBF1 in neuroblastoma cells. We conclude that a combined approach of M-FISH, cytogenetics, and CGH allowed a more complete and accurate description of the genetic alterations occurring in the

  12. A method to associate all possible combinations of genetic and environmental factors using GxE landscape plot.

    Science.gov (United States)

    Nagaie, Satoshi; Ogishima, Soichi; Nakaya, Jun; Tanaka, Hiroshi

    2015-01-01

    Genome-wide association studies (GWAS) and linkage analysis has identified many single nucleotide polymorphisms (SNPs) related to disease. There are many unknown SNPs whose minor allele frequencies (MAFs) as low as 0.005 having intermediate effects with odds ratio between 1.5~3.0. Low frequency variants having intermediate effects on disease pathogenesis are believed to have complex interactions with environmental factors called gene-environment interactions (GxE). Hence, we describe a model using 3D Manhattan plot called GxE landscape plot to visualize the association of p-values for gene-environment interactions (GxE). We used the Gene-Environment iNteraction Simulator 2 (GENS2) program to simulate interactions between two genetic loci and one environmental factor in this exercise. The dataset used for training contains disease status, gender, 20 environmental exposures and 100 genotypes for 170 subjects, and p-values were calculated by Cochran-Mantel-Haenszel chi-squared test on known data. Subsequently, we created a 3D GxE landscape plot of negative logarithm of the association of p-values for all the possible combinations of genetic and environmental factors with their hierarchical clustering. Thus, the GxE landscape plot is a valuable model to predict association of p-values for GxE and similarity among genotypes and environments in the context of disease pathogenesis. GxE - Gene-environment interactions, GWAS - Genome-wide association study, MAFs - Minor allele frequencies, SNPs - Single nucleotide polymorphisms, EWAS - Environment-wide association study, FDR - False discovery rate, JPT+CHB - HapMap population of Japanese in Tokyo, Japan - Han Chinese in Beijing.

  13. Use of net reclassification improvement (NRI method confirms the utility of combined genetic risk score to predict type 2 diabetes.

    Directory of Open Access Journals (Sweden)

    Claudia H T Tam

    Full Text Available BACKGROUND: Recent genome-wide association studies (GWAS identified more than 70 novel loci for type 2 diabetes (T2D, some of which have been widely replicated in Asian populations. In this study, we investigated their individual and combined effects on T2D in a Chinese population. METHODOLOGY: We selected 14 single nucleotide polymorphisms (SNPs in T2D genes relating to beta-cell function validated in Asian populations and genotyped them in 5882 Chinese T2D patients and 2569 healthy controls. A combined genetic score (CGS was calculated by summing up the number of risk alleles or weighted by the effect size for each SNP under an additive genetic model. We tested for associations by either logistic or linear regression analysis for T2D and quantitative traits, respectively. The contribution of the CGS for predicting T2D risk was evaluated by receiver operating characteristic (ROC analysis and net reclassification improvement (NRI. RESULTS: We observed consistent and significant associations of IGF2BP2, WFS1, CDKAL1, SLC30A8, CDKN2A/B, HHEX, TCF7L2 and KCNQ1 (8.5×10(-18

  14. Genetic and non-genetic causes of Isolated Growth Hormone Deficiency and Combined Pituitary Hormone Deficiency: Results of the HYPOPIT study

    NARCIS (Netherlands)

    L.C.G. de Graaff (Laura)

    2008-01-01

    textabstractHypopituitarism, the deficiency of one or more pituitary hormones, causes stunted growth and severe health problems. Understanding the etiology of pituitary hormone deficiencies is important for anticipation of clinical problems, for genetic counselling and for possible prevention. This

  15. A Combined Genetic, Biochemical, and Biophysical Analysis of the A1 Phylloquinone Binding Site of Photosystem I from Green Algae

    Energy Technology Data Exchange (ETDEWEB)

    Kevin E. Redding

    2008-05-31

    This project has resulted in the increase in our understanding of how proteins interact with and influence the properties of bound cofactors. This information is important for several reasons, including providing essential information for the re-engineering of biological molecules, such as proteins, for either improved function or entirely new ones. In particular, we have found that a molecule, such as the phylloquinone used in Photosystem I (PS1), can be made a stronger electron donor by placing it in a hydrophobic (greasy) environment surrounded by negative charges. In addition, the protein is constrained in its interactions with the phylloqinone, in that it must bind the cofactor tightly, but not in such a way that would stabilize the reduced (natively-charged) version of the molecule. We have used a combination of molecular genetics, in order to make specific mutations in the region of the phylloquinone, and an advanced form of spectroscopy capable of monitoring the transfer of electrons within PS1 using living cells as the material. This approach turned out to produce a significant savings in time and supplies, as it allowed us to focus quickly on the mutants that produced interesting effects, without having to go through laborious purification of the affected proteins. We followed up selected mutants using other spectroscopic techniques in order to gain more specialized information.

  16. Genetic algorithm based feature selection combined with dual classification for the automated detection of proliferative diabetic retinopathy.

    Science.gov (United States)

    Welikala, R A; Fraz, M M; Dehmeshki, J; Hoppe, A; Tah, V; Mann, S; Williamson, T H; Barman, S A

    2015-07-01

    Proliferative diabetic retinopathy (PDR) is a condition that carries a high risk of severe visual impairment. The hallmark of PDR is the growth of abnormal new vessels. In this paper, an automated method for the detection of new vessels from retinal images is presented. This method is based on a dual classification approach. Two vessel segmentation approaches are applied to create two separate binary vessel map which each hold vital information. Local morphology features are measured from each binary vessel map to produce two separate 4-D feature vectors. Independent classification is performed for each feature vector using a support vector machine (SVM) classifier. The system then combines these individual outcomes to produce a final decision. This is followed by the creation of additional features to generate 21-D feature vectors, which feed into a genetic algorithm based feature selection approach with the objective of finding feature subsets that improve the performance of the classification. Sensitivity and specificity results using a dataset of 60 images are 0.9138 and 0.9600, respectively, on a per patch basis and 1.000 and 0.975, respectively, on a per image basis. Copyright © 2015 Elsevier Ltd. All rights reserved.

  17. Scientific collaborations on Living Labs: some lessons learnt from South Africa and Tanzania

    CSIR Research Space (South Africa)

    Herselman, M

    2015-11-01

    Full Text Available The purpose of this paper is to provide an overview of the specific lessons that were learnt when Tanzanian and South African Living Labs (LL) collaborated to support one another. It was a scientific collaboration which focussed on Living Labs...

  18. Lessons learnt from the first EMEP intensive measurement periods

    Directory of Open Access Journals (Sweden)

    W. Aas

    2012-09-01

    explained by an underestimation of residential wood burning sources. It should be noted that both primary and secondary OC has been included in the calculations for the first time, showing promising results. Mineral dust is important, especially in southern Europe, and the model seems to capture the dust episodes well. The lack of measurements of mineral dust hampers the possibility for model evaluation for this highly uncertain PM component.

    There are also lessons learnt regarding improved measurements for future intensive periods. There is a need for increased comparability between the measurements at different sites. For the nitrogen compounds it is clear that more measurements using artefact free methods based on continuous measurement methods and/or denuders are needed. For EC/OC, a reference methodology (both in field and laboratory was lacking during these periods giving problems with comparability, though measurement protocols have recently been established and these should be followed by the Parties to the EMEP Protocol. For measurements with no defined protocols, it might be a good solution to use centralised laboratories to ensure comparability across the network. To cope with the introduction of these new measurements, new reporting guidelines have been developed to ensure that all proper information about the methodologies and data quality is given.

  19. Implementation of Defence in Depth at Nuclear Power Plants. Lessons Learnt from the Fukushima Daiichi Accident

    International Nuclear Information System (INIS)

    Lachaume, Jean-Luc; Miller, Douglass; Rzentkowski, Greg; Lahtinen, Nina; Valtonen, Keijo; Foucher, Laurent; Harikumar, Shri S.; Yamada, Tomoho; Sharafutdinov, Rashet; Kuznetsov, Mark; Carlsson, Lennart; Hanberg, Jan; Theiss, Klaus; Holahan, Gary; Williams, Donna; Nuenighoff, Kay; Wattelle, Emmanuel; Lazo, Edward; White, Andrew; Reig, Javier; Salgado, Nancy; Weightman, Mike

    2016-01-01

    Defence in depth (DiD) is a concept that has been used for many years alongside tools to optimise nuclear safety in reactor design, assessment and regulation. The 2011 Fukushima Daiichi nuclear power plant accident raised many questions and gave unique insight into nuclear safety issues, including DiD. In June 2013, the NEA held a Joint Workshop on Challenges and Enhancements to DiD in Light of the Fukushima Daiichi Accident (NEA, 2014), organised by the NEA Committee on the Safety of Nuclear Installations (CSNI) and the NEA Committee on Nuclear Regulatory Activities (CNRA). It was noted at the time that further work would be beneficial to enhance nuclear safety worldwide, especially with regard to the implementation of DiD. Accordingly, a senior-level task group (STG) was set up to produce a regulatory guidance booklet that would assist member countries in the use of DiD, taking into account lessons learnt from the 2011 accident. This regulatory guidance booklet builds on the work of this NEA workshop, of the International Atomic Energy Agency (IAEA), the Western European Nuclear Regulators Association (WENRA) and of other members of the STG. It uses as its basis the International Nuclear Safety Advisory Group's Defence in Depth in Nuclear Safety study (INSAG-10) (IAEA, 1996). The booklet provides insights into the implementation of DiD by regulators and emergency management authorities after the Fukushima Daiichi accident, aiming to enhance global harmonisation by providing guidance on: - the background to the DiD concept; - the need for independent effectiveness among the safety provisions for the various DiD levels, to the extent practicable; - the need for greater attention to reinforce prevention and mitigation at the various levels; - the vital importance of ensuring that common cause and common mode failures, especially external events acting in combination, do not lead to breaches of safety provisions at several DiD levels, taking note of the

  20. The combined effects of genetic risk and perceived discrimination on blood pressure among African Americans in the Jackson Heart Study.

    Science.gov (United States)

    Taylor, Jacquelyn Y; Sun, Yan V; Barcelona de Mendoza, Veronica; Ifatunji, Mosi; Rafferty, Jane; Fox, Ervin R; Musani, Solomon K; Sims, Mario; Jackson, James S

    2017-10-01

    Both genomics and environmental stressors play a significant role in increases in blood pressure (BP). In an attempt to further explain the hypertension (HTN) disparity among African Americans (AA), both genetic underpinnings (selected candidate genes) and stress due to perceived racial discrimination (as reported in the literature) have independently been linked to increased BP among AAs. Although Gene x Environment interactions on BP have been examined, the environmental component of these investigations has focused more on lifestyle behaviors such as smoking, diet, and physical activity, and less on psychosocial stressors such as perceived discrimination.The present study uses candidate gene analyses to identify the relationship between Everyday Discrimination (ED) and Major Life Discrimination (MLD) with increases in systolic BP (SBP) and diastolic BP (DBP) among AA in the Jackson Heart Study. Multiple linear regression models reveal no association between discrimination and BP after adjusting for age, sex, body mass index (BMI), antihypertensive medication use, and current smoking status.Subsequent candidate gene analysis identified 5 SNPs (rs7602215, rs3771724, rs1006502, rs1791926, and rs2258119) that interacted with perceived discrimination and SBP, and 3 SNPs (rs2034454, rs7602215, and rs3771724) that interacted with perceived discrimination and DBP. Most notably, there was a significant SNP × discrimination interaction for 2 SNPs on the SLC4A5 gene: rs3771724 (MLD: SBP P = .034, DBP P = .031; ED: DBP: P = .016) and rs1006502 (MLD: SBP P = .034, DBP P = .030; ED: DBP P = .015).This study supports the idea that SNP × discrimination interactions combine to influence clinically relevant traits such as BP. Replication with similar epidemiological samples is required to ascertain the role of genes and psychosocial stressors in the development and expression of high BP in this understudied population.

  1. Genome-wide association analysis reveals distinct genetic architectures for single and combined stress responses in Arabidopsis thaliana

    NARCIS (Netherlands)

    Davila Olivas, Nelson H.; Kruijer, Willem; Gort, Gerrit; Wijnen, Cris L.; Loon, van Joop J.A.; Dicke, Marcel

    2017-01-01

    Plants are commonly exposed to abiotic and biotic stresses. We used 350 Arabidopsis thaliana accessions grown under controlled conditions. We employed genome-wide association analysis to investigate the genetic architecture and underlying loci involved in genetic variation in resistance to: two

  2. Cultural transmission of tool use combined with habitat specializations leads to fine-scale genetic structure in bottlenose dolphins

    NARCIS (Netherlands)

    Kopps, Anna M.; Ackermann, Corinne Y.; Sherwin, William B.; Allen, Simon J.; Bejder, Lars; Kruetzen, Michael

    2014-01-01

    Socially learned behaviours leading to genetic population structure have rarely been described outside humans. Here, we provide evidence of fine-scale genetic structure that has probably arisen based on socially transmitted behaviours in bottlenose dolphins (Tursiops sp.) in western Shark Bay,

  3. Combined analysis of six lipoprotein lipase genetic variants on triglycerides, high-density lipoprotein, and ischemic heart disease

    DEFF Research Database (Denmark)

    Wittrup, Hans H; Andersen, Rolf V; Tybjaerg-Hansen, Anne

    2006-01-01

    Genetic variants in lipoprotein lipase may affect triglycerides, high-density lipoprotein (HDL), and risk of ischemic heart disease (IHD).......Genetic variants in lipoprotein lipase may affect triglycerides, high-density lipoprotein (HDL), and risk of ischemic heart disease (IHD)....

  4. Identification of the UBP1 locus as a critical blood pressure determinant using a combination of mouse and human genetics

    DEFF Research Database (Denmark)

    Koutnikova, Hana; Laakso, Markku; Lu, Lu

    2009-01-01

    complementarities of mouse and human genetic approaches, identifies the UBP1 locus as a critical blood pressure determinant. UBP1 plays a role in cholesterol and steroid metabolism via the transcriptional activation of CYP11A, the rate-limiting enzyme in pregnenolone and aldosterone biosynthesis. We suggest......Hypertension is a major health problem of largely unknown genetic origins. To identify new genes responsible for hypertension, genetic analysis of recombinant inbred strains of mice followed by human association studies might prove powerful and was exploited in our current study. Using a set of 27...... recombinant BXD strains of mice we identified a quantitative trait locus (QTL) for blood pressure (BP) on distal chromosome 9. The association analysis of markers encompassing the syntenic region on human chromosome 3 gave in an additive genetic model the strongest association for rs17030583 C/T and rs2291897...

  5. Multi-agency data linkage- How to and lessons learnt through the Western Australian Developmental Pathways Program

    Directory of Open Access Journals (Sweden)

    Rebecca Glauert

    2017-04-01

    This Program is the largest data linkage program in Australia, and is continually expanding with new agencies coming on board every year. Here we will provide a useful overview of the Program, along with key lessons learnt.

  6. Selection of discriminant mid-infrared wavenumbers by combining a naïve Bayesian classifier and a genetic algorithm: Application to the evaluation of lignocellulosic biomass biodegradation.

    Science.gov (United States)

    Rammal, Abbas; Perrin, Eric; Vrabie, Valeriu; Assaf, Rabih; Fenniri, Hassan

    2017-07-01

    Infrared spectroscopy provides useful information on the molecular compositions of biological systems related to molecular vibrations, overtones, and combinations of fundamental vibrations. Mid-infrared (MIR) spectroscopy is sensitive to organic and mineral components and has attracted growing interest in the development of biomarkers related to intrinsic characteristics of lignocellulose biomass. However, not all spectral information is valuable for biomarker construction or for applying analysis methods such as classification. Better processing and interpretation can be achieved by identifying discriminating wavenumbers. The selection of wavenumbers has been addressed through several variable- or feature-selection methods. Some of them have not been adapted for use in large data sets or are difficult to tune, and others require additional information, such as concentrations. This paper proposes a new approach by combining a naïve Bayesian classifier with a genetic algorithm to identify discriminating spectral wavenumbers. The genetic algorithm uses a linear combination of an a posteriori probability and the Bayes error rate as the fitness function for optimization. Such a function allows the improvement of both the compactness and the separation of classes. This approach was tested to classify a small set of maize roots in soil according to their biodegradation process based on their MIR spectra. The results show that this optimization method allows better discrimination of the biodegradation process, compared with using the information of the entire MIR spectrum, the use of the spectral information at wavenumbers selected by a genetic algorithm based on a classical validity index or the use of the spectral information selected by combining a genetic algorithm with other methods, such as Linear Discriminant Analysis. The proposed method selects wavenumbers that correspond to principal vibrations of chemical functional groups of compounds that undergo degradation

  7. Towards realistic modelling of spectral line formation - lessons learnt from red giants

    Science.gov (United States)

    Lind, Karin

    2015-08-01

    Many decades of quantitative spectroscopic studies of red giants have revealed much about the formation histories and interlinks between the main components of the Galaxy and its satellites. Telescopes and instrumentation are now able to deliver high-resolution data of superb quality for large stellar samples and Galactic archaeology has entered a new era. At the same time, we have learnt how simplifying physical assumptions in the modelling of spectroscopic data can bias the interpretations, in particular one-dimensional homogeneity and local thermodynamic equilibrium (LTE). I will present lessons learnt so far from non-LTE spectral line formation in 3D radiation-hydrodynamic atmospheres of red giants, the smaller siblings of red supergiants.

  8. Five Years after the Fukushima Daiichi Accident: Nuclear Safety Improvements and Lessons Learnt

    International Nuclear Information System (INIS)

    Magwood, William D. IV; Niel, Jean-Christophe; Fuketa, Toyoshi; Sheron, Brian; Boyd, Michael; McGarry, Ann; Dussart-Desart, Roland; Reig, Javier; Hah, Yeonhee; Nieh, Ho; Vasquez-Maignan, Ximena; Salgado, Nancy; White, Andrew; Lazo, Edward; Creswell, Len; Leeds, Eric; Gannon-Picot, Cynthia; Griffiths, Janice

    2016-01-01

    Countries around the world continue to implement safety improvements and corrective actions based on lessons learnt from the 11 March 2011 accident at the Fukushima Daiichi nuclear power plant. This report provides a high-level summary and update on these activities, and outlines further lessons learnt and challenges identified for future consideration. It focuses on actions taken by NEA committees and NEA member countries, and as such is complementary to reports produced by other international organisations. It is in a spirit of openness and transparency that NEA member countries share this information to illustrate that appropriate actions are being taken to maintain and enhance the level of safety at their nuclear facilities. Nuclear power plants are safer today because of these actions. High-priority follow-on items identified by NEA committees are provided to assist countries in continuously benchmarking and improving their nuclear safety practices. (authors)

  9. Genetic control and combining ability of flag leaf area and relative water content traits of bread wheat cultivars under drought stress condition

    Directory of Open Access Journals (Sweden)

    Golparvar Ahmad Reza

    2013-01-01

    Full Text Available In order to compare mode of inheritance, combining ability, heterosis and gene action in genetic control of traits flag leaf area, relative water content and grain filling rate of bread wheat under drought stress, a study was conducted on 8 cultivars using of Griffing’s method2 in fixed model. Mean square of general combining ability was significant also for all traits and mean square of specific combining ability was significant also for all traits except relative water content of leaf which show importance of both additive and dominant effects of genes in heredity of these traits under stress. GCA to SCA mean square ratio was significant for none of traits. Results of this study showed that non additive effects of genes were more important than additive effect for all traits. According to results we can understand that genetic improvement of mentioned traits will have low genetic efficiency by selection from the best crosses of early generations. Then it is better to delay selection until advanced generations and increase in heritability of these traits.

  10. Project scoping for lessons learnt to apply to the Celtic Seas marine sub-region

    OpenAIRE

    Twomey, Sarah; O'Mahony, Cathal

    2013-01-01

    This report involves a formal scoping exercise to identify lessons from a wide range of previous and current project and initiative experiences at the national, regional seas, European and global levels. An inventory of 77 projects and initiatives that are relevant with regard to the key activities proposed by the Celtic Seas Partnership has been compiled, as well as a short-list of 23 of the most pertinent projects, lessons learnt and contact names. This report has identified a number of syn...

  11. Response selection difficulty modulates the behavioral impact of rapidly learnt action effects.

    Directory of Open Access Journals (Sweden)

    Uta eWolfensteller

    2014-12-01

    Full Text Available It is well established that we can pick up action effect associations when acting in a free-choice intentional mode. However, it is less clear whether and when action effect associations are learnt and actually affect behavior if we are acting in a forced-choice mode, applying a specific stimulus-response (S-R rule. In the present study, we investigated whether response selection difficulty imposed by S-R rules influences the initial rapid learning and the behavioral expression of previously learnt but weakly practiced action effect associations when those are re-activated by effect exposure. Experiment 1 showed that the rapid acquisition of action effect associations is not directly influenced by response selection difficulty. By contrast, the behavioral expression of re-activated action effect associations is prevented when actions are directly activated by highly over-learnt response cues and thus response selection difficulty is low. However, all three experiments showed that if response selection difficulty is sufficiently high during re-activation, the same action effect associations do influence behavior. Experiment 2 and 3 revealed that the effect of response selection difficulty cannot be fully reduced to giving action effects more time to prime an action, but seems to reflect competition during response selection. Finally, the present data suggest that when multiple novel rules are rapidly learnt in succession, which requires a lot of flexibility, action effect associations continue to influence behavior only if response selection difficulty is sufficiently high. Thus, response selection difficulty might modulate the impact of experiencing multiple learning episodes on action effect expression and learning, possibly via inducing different strategies.

  12. Lessons learnt from implementation of the International Health Regulations: a systematic review

    Science.gov (United States)

    Allen, Lisa G; Cifuentes, Sara; Dye, Christopher; Nagata, Jason M

    2018-01-01

    Abstract Objective To respond to the World Health Assembly call for dissemination of lessons learnt from countries that have begun implementing the International Health Regulations, 2005 revision; IHR (2005). Methods In November 2015, we conducted a systematic search of the following online databases and sources: PubMed®, Embase®, Global Health, Scopus, World Health Organization (WHO) Global Index Medicus, WHO Bulletin on IHR Implementation and the International Society for Disease Surveillance. We included identified studies and reports summarizing national experience in implementing any of the IHR (2005) core capacities or their components. We excluded studies that were theoretical or referred to IHR (1969). Qualitative systematic review methodology, including meta-ethnography, was used for qualitative synthesis. Findings We analysed 51 articles from 77 countries representing all WHO Regions. The meta-syntheses identified a total of 44 lessons learnt across the eight core capacities of IHR (2005). Major themes included the need to mobilize and sustain political commitment; to adapt global requirements based on local sociocultural, epidemiological, health system and economic contexts; and to conduct baseline and follow-up assessments to monitor the status of IHR (2005) implementation. Conclusion Although experiences of IHR (2005) implementation covered a wide global range, more documentation from Africa and Eastern Europe is needed. We did not find specific areas of weakness in monitoring IHR (2005); sustained monitoring of all core capacities is required to ensure effective systems. These lessons learnt could be adapted by countries in the process of meeting IHR (2005) requirements. PMID:29403114

  13. FADS2 Genetic Variance in Combination with Fatty Acid Intake Might Alter Composition of the Fatty Acids in Brain.

    Directory of Open Access Journals (Sweden)

    Thais S Rizzi

    Full Text Available Multiple lines of evidence suggest that fatty acids (FA play an important role in cognitive function. However, little is known about the functional genetic pathways involved in cognition. The main goals of this study were to replicate previously reported interaction effects between breast feeding (BF and FA desaturase (FADS genetic variation on IQ and to investigate the possible mechanisms by which these variants might moderate BF effect, focusing on brain expression. Using a sample of 534 twins, we observed a trend in the moderation of BF effects on IQ by FADS2 variation. In addition, we made use of publicly available gene expression databases from both humans (193 and mice (93 and showed that FADS2 variants also correlate with FADS1 brain expression (P-value<1.1E-03. Our results provide novel clues for the understanding of the genetic mechanisms regulating FA brain expression and improve the current knowledge of the FADS moderation effect on cognition.

  14. Combining phylogenetic and demographic inferences to assess the origin of the genetic diversity in an isolated wolf population.

    Directory of Open Access Journals (Sweden)

    Luca Montana

    Full Text Available The survival of isolated small populations is threatened by both demographic and genetic factors. Large carnivores declined for centuries in most of Europe due to habitat changes, overhunting of their natural prey and direct persecution. However, the current rewilding trends are driving many carnivore populations to expand again, possibly reverting the erosion of their genetic diversity. In this study we reassessed the extent and origin of the genetic variation of the Italian wolf population, which is expanding after centuries of decline and isolation. We genotyped wolves from Italy and other nine populations at four mtDNA regions (control-region, ATP6, COIII and ND4 and 39 autosomal microsatellites. Results of phylogenetic analyses and assignment procedures confirmed in the Italian wolves a second private mtDNA haplotype, which belongs to a haplogroup distributed mostly in southern Europe. Coalescent analyses showed that the unique mtDNA haplotypes in the Italian wolves likely originated during the late Pleistocene. ABC simulations concordantly showed that the extant wolf populations in Italy and in south-western Europe started to be isolated and declined right after the last glacial maximum. Thus, the standing genetic variation in the Italian wolves principally results from the historical isolation south of the Alps.

  15. Combining ability × environment interaction and genetic analysis for agronomic traits in safflower (Carthamus tinctorius L.: biplot as a tool for diallel data

    Directory of Open Access Journals (Sweden)

    Pooran Golkar

    2017-09-01

    Full Text Available Combining ability × environment interaction is considerable to identify the effect of environment on the combining ability and gene action of the traits to select appropriate parents for safflower hybrid production. The 36 genotype (28 F2 progenies of eight-parent half-diallel crosses across 8 parental genotypes of safflower were studied to investigate the mentioned parameters across different geographical regions of Iran. The results indicated significant differences among parents for general and specific combining ability, except for seeds per capitulum across three environments. The overall results indicated that K21 and Mex.22-191 were excellent parents with greater general combining ability for the improvement of seed yield in safflower. The K21 × Mex.22-191 hybrid could be, therefore, employed for the production of high seed yield in safflower breeding. The estimates of genetic variance components recommended the importance of additive- dominance genetic effects that contributed to variation in yield per plant. Such gene action expression for seed yield needs auxiliary methods based on hybridization and selection for seed yield advancement in safflower.

  16. Effectiveness of the combined evaluation of KLK3 genetics and free-to-total prostate specific antigen ratio for prostate cancer diagnosis.

    Science.gov (United States)

    Zambon, Carlo-Federico; Prayer-Galetti, Tommaso; Basso, Daniela; Padoan, Andrea; Rossi, Elisa; Secco, Silvia; Pelloso, Michela; Fogar, Paola; Navaglia, Filippo; Moz, Stefania; Zattoni, Filiberto; Plebani, Mario

    2012-10-01

    Of serum prostate specific antigen variability 40% depends on inherited factors. We ascertained whether the knowledge of KLK3 genetics would enhance prostate specific antigen diagnostic performance in patients with clinical suspicion of prostate cancer. We studied 1,058 men who consecutively underwent prostate biopsy for clinical suspicion of prostate cancer. At histology prostate cancer was present in 401 cases and absent in 657. Serum total prostate specific antigen and the free-to-total prostate specific antigen ratio were determined. Four polymorphisms of the KLK3 gene (rs2569733, rs2739448, rs925013 and rs2735839) and 1 polymorphism of the SRD5A2 gene (rs523349) were studied. The influence of genetics on prostate specific antigen variability was evaluated by multivariate linear regression analysis. The performance of total prostate specific antigen and the free-to-total prostate specific antigen ratio alone or combined with a genetically based patient classification were defined by ROC curve analyses. For prostate cancer diagnosis the free-to-total prostate specific antigen ratio index alone (cutoff 11%) was superior to total prostate specific antigen (cutoff 4 ng/ml) and to free-to-total prostate specific antigen ratio reflex testing (positive predictive value 61%, 43% and 54%, respectively). Prostate specific antigen correlated with KLK3 genetics (rs2735839 polymorphism p = 0.001, and rs2569733, rs2739448 and rs925013 haplotype combination p = 0.003). In patients with different KLK3 genetics 2 optimal free-to-total prostate specific antigen ratio cutoffs (11% and 14.5%) were found. For free-to-total prostate specific antigen ratio values between 11% and 14.5% the prostate cancer probability ranged from 30.0% to 47.4% according to patient genetics. The free-to-total prostate specific antigen ratio is superior to total prostate specific antigen for prostate cancer diagnosis, independent of total prostate specific antigen results. Free-to-total prostate

  17. A semi-supervised learning approach to predict synthetic genetic interactions by combining functional and topological properties of functional gene network

    Directory of Open Access Journals (Sweden)

    Han Kyungsook

    2010-06-01

    Full Text Available Abstract Background Genetic interaction profiles are highly informative and helpful for understanding the functional linkages between genes, and therefore have been extensively exploited for annotating gene functions and dissecting specific pathway structures. However, our understanding is rather limited to the relationship between double concurrent perturbation and various higher level phenotypic changes, e.g. those in cells, tissues or organs. Modifier screens, such as synthetic genetic arrays (SGA can help us to understand the phenotype caused by combined gene mutations. Unfortunately, exhaustive tests on all possible combined mutations in any genome are vulnerable to combinatorial explosion and are infeasible either technically or financially. Therefore, an accurate computational approach to predict genetic interaction is highly desirable, and such methods have the potential of alleviating the bottleneck on experiment design. Results In this work, we introduce a computational systems biology approach for the accurate prediction of pairwise synthetic genetic interactions (SGI. First, a high-coverage and high-precision functional gene network (FGN is constructed by integrating protein-protein interaction (PPI, protein complex and gene expression data; then, a graph-based semi-supervised learning (SSL classifier is utilized to identify SGI, where the topological properties of protein pairs in weighted FGN is used as input features of the classifier. We compare the proposed SSL method with the state-of-the-art supervised classifier, the support vector machines (SVM, on a benchmark dataset in S. cerevisiae to validate our method's ability to distinguish synthetic genetic interactions from non-interaction gene pairs. Experimental results show that the proposed method can accurately predict genetic interactions in S. cerevisiae (with a sensitivity of 92% and specificity of 91%. Noticeably, the SSL method is more efficient than SVM, especially for

  18. Landscape resistance and habitat combine to provide an optimal model of genetic structure and connectivity at the range margin of a small mammal.

    Science.gov (United States)

    Marrotte, R R; Gonzalez, A; Millien, V

    2014-08-01

    We evaluated the effect of habitat and landscape characteristics on the population genetic structure of the white-footed mouse. We develop a new approach that uses numerical optimization to define a model that combines site differences and landscape resistance to explain the genetic differentiation between mouse populations inhabiting forest patches in southern Québec. We used ecological distance computed from resistance surfaces with Circuitscape to infer the effect of the landscape matrix on gene flow. We calculated site differences using a site index of habitat characteristics. A model that combined site differences and resistance distances explained a high proportion of the variance in genetic differentiation and outperformed models that used geographical distance alone. Urban and agriculture-related land uses were, respectively, the most and the least resistant landscape features influencing gene flow. Our method detected the effect of rivers and highways as highly resistant linear barriers. The density of grass and shrubs on the ground best explained the variation in the site index of habitat characteristics. Our model indicates that movement of white-footed mouse in this region is constrained along routes of low resistance. Our approach can generate models that may improve predictions of future northward range expansion of this small mammal. © 2014 John Wiley & Sons Ltd.

  19. Demonstrating safety: Lessons learnt by InSOTEC

    International Nuclear Information System (INIS)

    Kallenbach-Herbert, Beate; Brohmann, Bettina

    2014-01-01

    InSOTEC is a three-year collaborative social sciences research project funded under the European Atomic Energy Community's 7. Framework Programme FP7/2007-2011, under grant agreement no. 2699009.1 The project aims to generate a better understanding of the complex interplay between the technical and the social in radioactive waste management (RWM) and, in particular, in the context of the design and implementation of geological disposal. In doing so, InSOTEC wants to move beyond the social and technical division by treating RWM and geological disposal as 'socio-technical' challenges and in following the relationship and describing the context, one can identify the dependency as a socio-technical combination. InSOTEC focuses on situations and issues where the relationship between the technical and social components of geological disposal are still unstable, ambiguous or controversial, and where negotiations are taking place in terms of problem definitions and preferred solutions. Some concrete examples of socio-technical challenges are the question of siting and of introducing the notion of reversibility and retrievability or long-term repository monitoring into the concept of geological disposal. These examples show that the concept of geological disposal develops over time, not only because of evolutions in scientific knowledge, but also as a consequence of debates on how to implement this technology in the light of societal requirements. During the first year of the project, various research activities in the national context of InSOTEC partner countries as well as on the European and international levels contributed to the identification of the main socio-technical challenges in geological disposal. On this basis four topics were selected for in-depth analysis: - reversibility and retrievability; - demonstrating safety; - siting; - technology transfer; The aim of these analyses is to come to a better understanding of the relationships between social and technical

  20. Genetic Parameters and Combining Ability Effects of Parents for Seed Yield and other Quantitative Traits in Black Gram [Vigna mungo (L. Hepper

    Directory of Open Access Journals (Sweden)

    Supriyo CHAKRABORTY

    2010-06-01

    Full Text Available Line x tester analysis was carried out in black gram [Vigna mungo (L. Hepper], an edible legume, to estimate the gca (general combining ability effects of parents (3 lines and 3 testers and the SCA (specific combining ability effects of 9 crosses for seed yield and other eleven quantitative traits. Though additive and nonadditive gene actions governed the expression of quantitative traits, the magnitude of nonadditive gene action was higher than that of additive gene action for each quantitative trait. Two parents viz. �UG157� and �DPU915� were good general combiners. Two crosses namely �PDB 88-31�/�DPU 915� and �PLU 277�/�KAU7� had high per se performance along with positive significant SCA effect for seed yield/plant. The degree of dominance revealed overdominance for all the traits except clusters/plant with partial dominance. The predictability ratio also revealed the predominant role of nonadditive gene action in the genetic control of quantitative traits. Narrow sense heritability was also low for each trait. Recurrent selection or biparental mating followed by selection which can exploit both additive and nonadditive gene actions would be of interest for yield improvement in black gram. Due to presence of high magnitude of nonadditive gene action, heterosis breeding could also be attempted to develop low cost hybrid variety using genetic male sterility system in black gram.

  1. Genetic Parameters and Combining Ability Effects of Parents for Seed Yield and other Quantitative Traits in Black Gram [Vigna mungo (L. Hepper

    Directory of Open Access Journals (Sweden)

    Supriyo CHAKRABORTY

    2010-06-01

    Full Text Available Line x tester analysis was carried out in black gram [Vigna mungo (L. Hepper], an edible legume, to estimate the gca (general combining ability effects of parents (3 lines and 3 testers and the SCA (specific combining ability effects of 9 crosses for seed yield and other eleven quantitative traits. Though additive and nonadditive gene actions governed the expression of quantitative traits, the magnitude of nonadditive gene action was higher than that of additive gene action for each quantitative trait. Two parents viz. UG157 and DPU915 were good general combiners. Two crosses namely PDB 88-31/DPU 915 and PLU 277/KAU7 had high per se performance along with positive significant SCA effect for seed yield/plant. The degree of dominance revealed overdominance for all the traits except clusters/plant with partial dominance. The predictability ratio also revealed the predominant role of nonadditive gene action in the genetic control of quantitative traits. Narrow sense heritability was also low for each trait. Recurrent selection or biparental mating followed by selection which can exploit both additive and nonadditive gene actions would be of interest for yield improvement in black gram. Due to presence of high magnitude of nonadditive gene action, heterosis breeding could also be attempted to develop low cost hybrid variety using genetic male sterility system in black gram.

  2. Mitochondrial genetic damage induced in yeast by a photoactivated furocoumarin in combination with ethidium bromide or ultraviolet light

    International Nuclear Information System (INIS)

    Juliani, M.H.; Hixon, S.; Moustacchi, E.

    1976-01-01

    Ethidium bromide (EB) and ultraviolet light (UV) in combination are known to produce a synergistic induction of 'petite' mutants in yeast. Two other agents were combined with EB, 3-Carbethoxypsoralene (3 CPs) activated by 365 nm light or γ rays. EB in combination with 3 CPs also resulted in an enhanced production of 'petite' mutants. After the photoaddition of 3 CPs in exponential phase cells, recovery of the 'petite' mutation during dark liquid holding was inhibited by the presence of EB producing an enhanced number of 'petite' mutants. The behavior of mitochondrial antibiotic resistance markers after individual and combined treatments with EB and 3 CPs indicates a random loss of markers after EB and a preferential loss of a certain region for the 3 CPs photoaddition. The combination of the two agents leads to an additivity of total drug marker losses rather than a synergistic loss. The combination of EB with γ rays produced no enhancement in 'petite' induction. A combination of UV and 3 CPs showed a synergistic interaction for 'petite' induction. These results indicate that the three agents, EB, UV and 3 CPs photoaddition may share a common repair step for mitochondrial lesions. (orig.) [de

  3. Historical radioactive waste in France: Situation and lessons learnt

    International Nuclear Information System (INIS)

    Blary, C.; Averous, J.

    2002-01-01

    Some radioactive waste, produced several decades ago, have been stored until now, awaiting an appropriate treatment process or further policy decision, in facilities that are now considered under the present safety standards. When no satisfactory improvements can be brought about the safety of the storage, the retrieval of the old radioactive waste is required. In France, typical facilities concerned with historical radioactive waste are shallow wells, pools, silos, effluents tanks and trenches. Several aspects, sometimes combined, make the retrieval usually more difficult and longer than thought. These aspects are mainly a lack of concern regarding retrieval of the waste when designing the facilities, an insufficient waste characterisation or record keeping, a lack of monitoring, this lack of monitoring becoming more detrimental as the facility is ageing, and a lack of maintenance. Problems related to historical radioactive waste management have been identified and operators are making efforts to eradicate them. Without considering the financial cost of old radioactive waste retrieval, operators have to face problems such as risk of loss of radionuclides containment, radiation protection, handling and transportation. The nuclear safety authority has decided to make safety guidelines regarding designing and operating storage facilities as a result of experience feedback from the storage operators. (author)

  4. Genetic engineering combined with deep UV resonance Raman spectroscopy for structural characterization of amyloid-like fibrils.

    Science.gov (United States)

    Sikirzhytski, Vitali; Topilina, Natalya I; Higashiya, Seiichiro; Welch, John T; Lednev, Igor K

    2008-05-07

    Elucidating the structure of the cross-beta core in large amyloid fibrils is a challenging problem in modern structural biology. For the first time, a set of de novo polypeptides was genetically engineered to form amyloid-like fibrils with similar morphology and yet different strand length. Differential ultraviolet Raman spectroscopy allowed for separation of the spectroscopic signatures of the highly ordered beta-sheet strands and turns of the fibril core. The relationship between Raman frequencies and Ramachandran dihedral angles of the polypeptide backbone indicates the nature of the beta-sheet and turn structural elements.

  5. A Combined Methodology of Adaptive Neuro-Fuzzy Inference System and Genetic Algorithm for Short-term Energy Forecasting

    Directory of Open Access Journals (Sweden)

    KAMPOUROPOULOS, K.

    2014-02-01

    Full Text Available This document presents an energy forecast methodology using Adaptive Neuro-Fuzzy Inference System (ANFIS and Genetic Algorithms (GA. The GA has been used for the selection of the training inputs of the ANFIS in order to minimize the training result error. The presented algorithm has been installed and it is being operating in an automotive manufacturing plant. It periodically communicates with the plant to obtain new information and update the database in order to improve its training results. Finally the obtained results of the algorithm are used in order to provide a short-term load forecasting for the different modeled consumption processes.

  6. Recruiting a young adolescent rural cohort: Costs and lessons learnt

    Directory of Open Access Journals (Sweden)

    Krestina L. Amon

    2016-04-01

    Full Text Available Background: Adolescent recruitment into longitudinal health studies is challenging. The aim of this paper is to report the detailed process and costs of recruiting young adolescents and their families into an intensive longitudinal study of the effects of puberty hormones on health, behaviour and wellbeing in early adolescence, based in regional/rural Australia. Methods: Participants were recruited using a saturation strategy of targeted methods (including school visits and community events and non-targeted recruitment approaches (including print and electronic media advertising, and social media. Direct (face-to-face contact with the public and indirect (behind-the-scenes preparatory activities researcher hours were calculated for each of the recruitment strategies. Results: The study recruited 342 adolescent participants and a parent/guardian over two years. School and community-based recruitment required 6.2 and 6.0 researcher hours per activity, respectively. Direct researcher hours were primarily spent on delivering presentations and connecting with community members at community events. The majority of indirect hours were spent preparing and assembling information packs for distribution to students and parents during school visits. Non-targeted recruitment strategies using media advertising were the most frequently used methods. Researchers were estimated to have spent less than one hour for each media activity. In 27 months, an estimated $250,000 was spent on recruitment activities and resources. A combination of methods was used to recruit young adolescents and their families into a longitudinal health study. Conclusions: The financial costs and researcher time committed to this study highlight the labour-intensive nature of recruitment. The data presented are useful for researchers planning longitudinal studies in adolescents.

  7. Combined genetic and bioactivity-based prioritization leads to the isolation of an endophyte-derived antimycobacterial compound.

    Science.gov (United States)

    Alvin, A; Kalaitzis, J A; Sasia, B; Neilan, B A

    2016-05-01

    To initiate a genetic and bioactivity-based screening programme of culturable endophytes to identify micro-organisms capable of producing bioactive polyketides and peptides. Fungal endophytes were isolated from flowers, leaves and roots of Rhoeo spathacea, revealing a community consisting of Colletotrichum sp., Fusarium sp., Guignardia sp., Phomopsis sp., Phoma sp. and Microdochium sp. Genetic screening showed that all isolates had polyketide synthase (PKS) genes and most had nonribosomal peptide synthetase (NRPS) genes. Ethyl acetate extracts of the fungal isolates exhibited antiproliferative activity against at least one of the seven bacterial and mycobacterial test strains. Nuclear Magnetic Resonance -guided fractionation of the crude extract from a Fusarium sp. strain which exhibited strong antiproliferative activity against Mycobacterium tuberculosis resulted in the isolation of the polyketide javanicin. This compound was active against Myco. tuberculosis (MIC = 25 μg ml(-1)) and Mycobacterium phlei (MIC = 50 μg ml(-1)). The medicinal plant R. spathacea hosts a variety of fungal endophytes capable of producing antibacterial and antimycobacterial compounds. There is a positive correlation between the presence of PKS and/or NRPS encoding genes in endophytes and the bioactivity of their respective organic extracts. This is the first report on the fungal endophytic diversity of R. spathacea, and the isolation of an antimycobacterial compound from the plant which has been traditionally used for the treatment of tuberculosis symptoms. © 2016 The Society for Applied Microbiology.

  8. Lessons learnt from 20 years surveillance of malaria drug resistance prior to the policy change in Burkina Faso.

    Science.gov (United States)

    Tinto, Halidou; Valea, Innocent; Ouédraogo, Jean-Bosco; Guiguemdé, Tinga Robert

    2016-01-01

    The history of drug resistance to the previous antimalarial drugs, and the potential for resistance to evolve to Artemisinin-based combination therapies, demonstrates the necessity to set-up a good surveillance system in order to provide early warning of the development of resistance. Here we report a review summarizing the history of the surveillance of drug resistance that led to the policy change in Burkina Faso. The first Plasmodium falciparum Chloroquine-Resistance strain identified in Burkina Faso was detected by an in vitro test carried out in Koudougou in 1983. Nevertheless, no further cases were reported until 1987, suggesting that resistant strains had been circulating at a low prevalence before the beginning of the systematic surveillance system from 1984. We observed a marked increase of Chloroquine-Resistance in 2002-2003 probably due to the length of follow-up as the follow-up duration was 7 or 14 days before 2002 and 28 days from 2002 onwards. Therefore, pre-2002 studies have probably under-estimated the real prevalence of Chloroquine-Resistance by not detecting the late recrudescence. With a rate of 8.2% treatment failure reported in 2003, Sulfadoxine-Pyrimethamine was still efficacious for the treatment of uncomplicated malaria in Burkina Faso but this rate might rapidly increase as the result of its spreading from neighboring countries and due to its current use for both the Intermittent Preventive Treatment in pregnant women and Seasonal Malaria Chemoprophylaxis. The current strategy for the surveillance of the Artemisinin-based combination treatments resistance should build on lessons learnt under the previous period of 20 years surveillance of Chloroquine and Sulfadoxine-Pyrimethamine resistance (1994-2004). The most important aspect being to extend the number of sentinel sites so that data would be less patchy and could help understanding the dynamic of the resistance.

  9. Renal services disaster planning: lessons learnt from the 2011 Queensland floods and North Queensland cyclone experiences.

    Science.gov (United States)

    Johnson, David W; Hayes, Bronwyn; Gray, Nicholas A; Hawley, Carmel; Hole, Janet; Mantha, Murty

    2013-01-01

    In 2011, Queensland dialysis services experienced two unprecedented natural disasters within weeks of each other. Floods in south-east Queensland and Tropical Cyclone Yasi in North Queensland caused widespread flooding, property damage and affected the provision of dialysis services, leading to Australia's largest evacuation of dialysis patients. This paper details the responses to the disasters and examines what worked and what lessons were learnt. Recommendations are made for dialysis units in relation to disaster preparedness, response and recovery. © 2012 The Authors. Nephrology © 2012 Asian Pacific Society of Nephrology.

  10. The lesson learnt during interact - I and INTERACT - II actris measurement campaigns

    Directory of Open Access Journals (Sweden)

    Rosoldi Marco

    2018-01-01

    Full Text Available The INTERACT-II (INTERcomparison of Aerosol and Cloud Tracking campaign, performed at the CNR-IMAA Atmospheric Observatory (760 m a.s.l., 40.60° N, 15.72° E, aims to evaluate the performances of commercial automatic lidars and ceilometers for atmospheric aerosol profiling, through the comparison with Potenza EARLINET (European Aerosol Research Lidar NETwork lidars. The results of the campaign and the overall lesson learnt within INTERACT-I and INTERACT-II ACTRIS campaigns will be presented.

  11. Lessons Learnt and Mitigation Measures for the CERN LHC Equipment with RF fingers

    CERN Document Server

    Métral, E; Assmann, R W; Baglin, V; Barnes, M J; Berrig, O E; Bertarelli, A; Bregliozzi, G; Calatroni, S; Carra, F; Caspers, F; Day, H A; Ferro-Luzzi, M; Gallilee, M A; Garion, C; Garlasche, M; Grudiev, A; Jimenez, J M; Jones, R; Kononenko, O; Losito, R; Nougaret, J L; Parma, V; Redaelli, S; Salvant, B; Strubin, P; Veness, R; Vollinger, C; Weterings, W

    2013-01-01

    Beam-induced RF heating has been observed in several LHC components when the bunch/beam intensity was increased and/or the bunch length reduced. In particular eight bellows, out of the ten double-bellow modules present in the machine in 2011, were found with the spring, which should keep the RF fingers in good electrical contact with the central insert, broken. Following these observations, the designs of all the components of the LHC equipped with RF fingers have been reviewed. The lessons learnt and mitigation measures are presented in this paper.

  12. Predicting High or Low Transfer Efficiency of Photovoltaic Systems Using a Novel Hybrid Methodology Combining Rough Set Theory, Data Envelopment Analysis and Genetic Programming

    Directory of Open Access Journals (Sweden)

    Lee-Ing Tong

    2012-02-01

    Full Text Available Solar energy has become an important energy source in recent years as it generates less pollution than other energies. A photovoltaic (PV system, which typically has many components, converts solar energy into electrical energy. With the development of advanced engineering technologies, the transfer efficiency of a PV system has been increased from low to high. The combination of components in a PV system influences its transfer efficiency. Therefore, when predicting the transfer efficiency of a PV system, one must consider the relationship among system components. This work accurately predicts whether transfer efficiency of a PV system is high or low using a novel hybrid model that combines rough set theory (RST, data envelopment analysis (DEA, and genetic programming (GP. Finally, real data-set are utilized to demonstrate the accuracy of the proposed method.

  13. Genetic consequences of the combined effect of ionizing radiation and copper vitriol on experimental Drosophila melanogaster populations

    International Nuclear Information System (INIS)

    Glushkova, I.V.; Anoshenko, I.P.; Malei, L.P.; Pechkovskaya, A.V.

    2004-01-01

    The paper studies the influence of the combined effect of gamma-irradiation (15 Gy/generation) and copper vitriol (1 mM concentration) on experimental Dr. melanogaster population with the help of the tests of morphogenetic variability and dominant lethal mutations (DLM). The frequency of morphogenetically changed phenotypes increased under the influence of mutagenic factors of diverse origin and their spectrum was practically unchanged. The DLM test has shown that irradiation and the combined effect of chemical and physical factors exerted a damaging effect, while Cu salt acted as sensitizer considerably intensifying radiation effect. (authors)

  14. Lifestyle Advice Combined with Personalized Estimates of Genetic or Phenotypic Risk of Type 2 Diabetes, and Objectively Measured Physical Activity: A Randomized Controlled Trial.

    Directory of Open Access Journals (Sweden)

    Job G Godino

    2016-11-01

    Full Text Available Information about genetic and phenotypic risk of type 2 diabetes is now widely available and is being incorporated into disease prevention programs. Whether such information motivates behavior change or has adverse effects is uncertain. We examined the effect of communicating an estimate of genetic or phenotypic risk of type 2 diabetes in a parallel group, open, randomized controlled trial.We recruited 569 healthy middle-aged adults from the Fenland Study, an ongoing population-based, observational study in the east of England (Cambridgeshire, UK. We used a computer-generated random list to assign participants in blocks of six to receive either standard lifestyle advice alone (control group, n = 190 or in combination with a genetic (n = 189 or a phenotypic (n = 190 risk estimate for type 2 diabetes (intervention groups. After 8 wk, we measured the primary outcome, objectively measured physical activity (kJ/kg/day, and also measured several secondary outcomes (including self-reported diet, self-reported weight, worry, anxiety, and perceived risk. The study was powered to detect a between-group difference of 4.1 kJ/kg/d at follow-up. 557 (98% participants completed the trial. There were no significant intervention effects on physical activity (difference in adjusted mean change from baseline: genetic risk group versus control group 0.85 kJ/kg/d (95% CI -2.07 to 3.77, p = 0.57; phenotypic risk group versus control group 1.32 (95% CI -1.61 to 4.25, p = 0.38; and genetic risk group versus phenotypic risk group -0.47 (95% CI -3.40 to 2.46, p = 0.75. No significant differences in self-reported diet, self-reported weight, worry, and anxiety were observed between trial groups. Estimates of perceived risk were significantly more accurate among those who received risk information than among those who did not. Key limitations include the recruitment of a sample that may not be representative of the UK population, use of self-reported secondary outcome

  15. Combined use of a new SNP-based assay and multilocus SSR markers to assess genetic diversity of Xylella fastidiosa subsp. pauca infecting citrus and coffee plants.

    Science.gov (United States)

    Montes-Borrego, Miguel; Lopes, Joao R S; Jiménez-Díaz, Rafael M; Landa, Blanca B

    2015-03-01

    Two haplotypes of Xylella fastidiosa subsp. pauca (Xfp) that correlated with their host of origin were identified in a collection of 90 isolates infecting citrus and coffee plants in Brazil, based on a single-nucleotide polymorphism in the gyrB sequence. A new single-nucleotide primer extension (SNuPE) protocol was designed for rapid identification of Xfp according to the host source. The protocol proved to be robust for the prediction of the Xfp host source in blind tests using DNA from cultures of the bacterium, infected plants, and insect vectors allowed to feed on Xfp-infected citrus plants. AMOVA and STRUCTURE analyses of microsatellite data separated most Xfp populations on the basis of their host source, indicating that they were genetically distinct. The combined use of the SNaPshot protocol and three previously developed multilocus SSR markers showed that two haplotypes and distinct isolates of Xfp infect citrus and coffee in Brazil and that multiple, genetically different isolates can be present in a single orchard or infect a single tree. This combined approach will be very useful in studies of the epidemiology of Xfp-induced diseases, host specificity of bacterial genotypes, the occurrence of Xfp host jumping, vector feeding habits, etc., in economically important cultivated plants or weed host reservoirs of Xfp in Brazil and elsewhere. Copyright© by the Spanish Society for Microbiology and Institute for Catalan Studies.

  16. Combining morphology and genetics in resolving taxonomy--a systematic revision of spined loaches (Genus Cobitis; Cypriniformes, Actinopterygii in the Adriatic watershed.

    Directory of Open Access Journals (Sweden)

    Ivana Buj

    Full Text Available Taxonomic investigation of spined loaches from Dalmatia and Herzegovina was conducted on specimens from 14 localities. The results of the detailed morphological investigations were combined with genetic data (based on one mitochondrial and two nuclear genes in order to resolve the taxonomic status of each Cobitis population. Among the investigated features of external morphology, the appearance of spots on the caudal fin base turned out to have the greatest diagnostic value. Furthermore, the number of branched fin rays enabled the discrimination of several species. No morphometric character alone could ensure determination of any Cobitis species. Nevertheless, groups of populations that are more similar in their body shapes correspond to mitochondrial phylogenetic lineages. Based on molecular genetic markers, Dalmatian and Herzegovinian spined loaches form independent lineages inside the Adriatic phylogenetic group. Mitochondrial DNA phylogenetic reconstruction revealed six monophyletic lineages, corresponding to six species distributed in the investigated area. The population distributed in Mostarsko blato karstic field in Bosnia and Herzegovina is described as a new species based on a unique combination of morphological characters: a single triangular Canestrini scale; usually 51/2 branched anal fin rays, 61/2 branched dorsal fin rays, 14 branched caudal fin rays; no spots in the surface pigmentation layer on the caudal fin base; scales on the body very small.

  17. Dietary Intake, FTO Genetic Variants, and Adiposity : A Combined Analysis of Over 16,000 Children and Adolescents

    NARCIS (Netherlands)

    Qi, Qibin; Downer, Mary K.; Kilpelaeinen, Tuomas O.; Taal, H. Rob; Barton, Sheila J.; Ntalla, Ioanna; Standl, Marie; Boraska, Vesna; Huikari, Ville; Kiefte-de Jong, Jessica C.; Koerner, Antje; Lakka, Timo A.; Liu, Gaifen; Magnusson, Jessica; Okuda, Masayuki; Raitakari, Olli; Richmond, Rebecca; Scott, Robert A.; Bailey, Mark E. S.; Scheuermann, Kathrin; Holloway, John W.; Inskip, Hazel; Isasi, Carmen R.; Mossavar-Rahmani, Yasmin; Jaddoe, Vincent W. V.; Laitinen, Jaana; Lindi, Virpi; Melen, Erik; Pitsiladis, Yannis; Pitkaenen, Niina; Snieder, Harold; Heinrich, Joachim; Timpson, Nicholas J.; Wang, Tao; Yuji, Hinoda; Zeggini, Eleftheria; Dedoussis, George V.; Kaplan, Robert C.; Wylie-Rosett, Judith; Loos, Ruth J. F.; Hu, Frank B.; Qi, Lu

    The FTO gene harbors variation with the strongest effect on adiposity and obesity risk. Previous data support a role for FTO variation in influencing food intake. We conducted a combined analysis of 16,094 boys and girls aged 1-18 years from 14 studies to examine the following: 1) the association

  18. Genetic profiles of gastroesophageal cancer: combined analysis using expression array and tiling array--comparative genomic hybridization

    DEFF Research Database (Denmark)

    Isinger-Ekstrand, Anna; Johansson, Jan; Ohlsson, Mattias

    2010-01-01

    We aimed to characterize the genomic profiles of adenocarcinomas in the gastroesophageal junction in relation to cancers in the esophagus and the stomach. Profiles of gains/losses as well as gene expression profiles were obtained from 27 gastroesophageal adenocarcinomas by means of 32k high......15, 13q34, and 12q13, whereas different profiles with gains at 5p15, 7p22, 2q35, and 13q34 characterized gastric cancers. CDK6 and EGFR were identified as putative target genes in cancers of the esophagus and the gastroesophageal junction, with upregulation in one quarter of the tumors. Gains....../losses and gene expression profiles show strong similarity between cancers in the distal esophagus and the gastroesophageal junction with frequent upregulation of CDK6 and EGFR, whereas gastric cancer displays distinct genetic changes. These data suggest that molecular diagnostics and targeted therapies can...

  19. Selection for high oridonin yield in the Chinese medicinal plant Isodon (Lamiaceae using a combined phylogenetics and population genetics approach.

    Directory of Open Access Journals (Sweden)

    Eric S J Harris

    Full Text Available Oridonin is a diterpenoid with anti-cancer activity that occurs in the Chinese medicinal plant Isodon rubescens and some related species. While the bioactivity of oridonin has been well studied, the extent of natural variation in the production of this compound is poorly known. This study characterizes natural variation in oridonin production in order to guide selection of populations of Isodon with highest oridonin yield. Different populations of I. rubescens and related species were collected in China, and their offspring were grown in a greenhouse. Samples were examined for oridonin content, genotyped using 11 microsatellites, and representatives were sequenced for three phylogenetic markers (ITS, rps16, trnL-trnF. Oridonin production was mapped on a molecular phylogeny of the genus Isodon using samples from each population as well as previously published Genbank sequences. Oridonin has been reported in 12 out of 74 species of Isodon examined for diterpenoids, and the phylogeny indicates that oridonin production has arisen at least three times in the genus. Oridonin production was surprisingly consistent between wild-collected parents and greenhouse-grown offspring, despite evidence of gene flow between oridonin-producing and non-producing populations of Isodon. Additionally, microsatellite genetic distance between individuals was significantly correlated with chemical distance in both parents and offspring. Neither heritability nor correlation with genetic distance were significant when the comparison was restricted to only populations of I. rubescens, but this result should be corroborated using additional samples. Based on these results, future screening of Isodon populations for oridonin yield should initially prioritize a broad survey of all species known to produce oridonin, rather than focusing on multiple populations of one species, such as I. rubescens. Of the samples examined here, I. rubescens or I. japonicus from Henan province

  20. Genetic polymorphisms associated with fatty liver disease and fibrosis in HIV positive patients receiving combined antiretroviral therapy (cART)

    Science.gov (United States)

    Luda, Carolin; Schwarze-Zander, Carolynne; Boesecke, Christoph; Hansel, Cordula; Nischalke, Hans-Dieter; Lutz, Philipp; Mohr, Raphael; Wasmuth, Jan-Christian; Strassburg, Christian P.; Trebicka, Jonel; Rockstroh, Jürgen Kurt; Spengler, Ulrich

    2017-01-01

    Hepatic steatosis can occur with any antiretroviral therapy (cART). Although single nucleotide polymorphisms (SNPs) have been identified to predispose to alcoholic and non-alcoholic fatty liver disease, their role for treatment-associated steatosis in HIV-positive patients remains unclear. We determined the frequency of PNPLA3 (rs738409), CSPG3/NCAN (rs2228603), GCKR (rs780094), PPP1R3B (rs4240624), TM6SF (rs8542926), LYPLAL1 (rs12137855) and MBOAT7 (rs626283) by RT-PCR in 117 HIV-positive patients on cART and stratified participants based on their “controlled attenuation parameter” (CAP) into probable (CAP: 215–300 dB/m) and definite (CAP >300 dB/m) hepatic steatosis. We analyzed CAP values and routine metabolic parameters according to the allele frequencies. Sixty-five (55.6%) and 13 (11.1%) patients were allocated to probable and definite steatosis. CAP values (p = 0.012) and serum triglycerides (p = 0.043) were increased in carriers of the GCKR (rs780094) A allele. Cox logistic regression identified triglycerides (p = 0.006), bilirubin (p = 0.021) and BMI (p = 0.068), but not the genetic parameters as risk factors for the occurrence of hepatic steatosis. Taken together, according to the limited sample size, this exploratory study generates the hypothesis that genetic polymorphisms seem to exert minor effects on the risk for fatty liver disease in HIV-positive patients on cART. Nevertheless, SNPs may modify metabolic complications once metabolic abnormalities have developed. Hence, subsequent analysis of a larger cohort is needed. PMID:28594920

  1. Combined genetic and pharmacological inhibition of TRPV1 and P2X3 attenuates colorectal hypersensitivity and afferent sensitization

    OpenAIRE

    Kiyatkin, Michael E.; Feng, Bin; Schwartz, Erica S.; Gebhart, G. F.

    2013-01-01

    The ligand-gated channels transient receptor potential vanilloid 1 (TRPV1) and P2X3 have been reported to facilitate colorectal afferent neuron sensitization, thus contributing to organ hypersensitivity and pain. In the present study, we hypothesized that TRPV1 and P2X3 cooperate to modulate colorectal nociception and afferent sensitivity. To test this hypothesis, we employed TRPV1-P2X3 double knockout (TPDKO) mice and channel-selective pharmacological antagonists and evaluated combined chann...

  2. A Grounded Theory Approach in a Branding Context: Challenges and lessons learnt during the research process

    Directory of Open Access Journals (Sweden)

    Anne Rindell, PhD.

    2009-06-01

    Full Text Available The purpose of this paper is to discuss challenges and lessons learnt when conducting a classic grounded theory study in a marketing context. The paper focuses on two specific challenges that were met during a specific research process. The first challenge related to positioning the study, namely, specifying“what the study is a study of”. The second challenge concerned the choice between formal or substantive theory. Both challenges were accentuated as the emerged core category concerned a phenomenon that has caught less attention in marketing, that is, the temporal dimension in corporate images. By the temporal dimension in corporate images we mean that corporate images often have roots in earlier times through consumer memories. In other words, consumers are not tabula rasa, that is, blank sheets of paper on which communication messages can be printed. Rather, consumers have a pre-understanding of the company that works as an interpretation framework for company actions in the present. The lessons learnt from this research process can be summarized as “stay faithful to the data”, “write memos on issues you reflect upon although they might be in another substantial field” as they might become useful later, and, “look into thinking in other disciplines” as disciplines do not develop equally.

  3. Reciprocal Genetics: Identifying QTL for General and Specific Combining Abilities in Hybrids Between Multiparental Populations from Two Maize (Zea mays L.) Heterotic Groups.

    Science.gov (United States)

    Giraud, Héloïse; Bauland, Cyril; Falque, Matthieu; Madur, Delphine; Combes, Valérie; Jamin, Philippe; Monteil, Cécile; Laborde, Jacques; Palaffre, Carine; Gaillard, Antoine; Blanchard, Philippe; Charcosset, Alain; Moreau, Laurence

    2017-11-01

    Several plant and animal species of agricultural importance are commercialized as hybrids to take advantage of the heterosis phenomenon. Understanding the genetic architecture of hybrid performances is therefore of key importance. We developed two multiparental maize ( Zea mays L.) populations, each corresponding to an important heterotic group (dent or flint) and comprised of six connected biparental segregating populations of inbred lines (802 and 822 lines for each group, respectively) issued from four founder lines. Instead of using "testers" to evaluate their hybrid values, segregating lines were crossed according to an incomplete factorial design to produce 951 dent-flint hybrids, evaluated for four biomass production traits in eight environments. QTL detection was carried out for the general-combining-ability (GCA) and specific-combining-ability (SCA) components of hybrid value, considering allelic effects transmitted from each founder line. In total, 42 QTL were detected across traits. We detected mostly QTL affecting GCA, 31% (41% for dry matter yield) of which also had mild effects on SCA. The small impact of dominant effects is consistent with the known differentiation between the dent and flint heterotic groups and the small percentage of hybrid variance due to SCA observed in our design (∼20% for the different traits). Furthermore, most (80%) of GCA QTL were segregating in only one of the two heterotic groups. Relative to tester-based designs, use of hybrids between two multiparental populations appears highly cost efficient to detect QTL in two heterotic groups simultaneously. This presents new prospects for selecting superior hybrid combinations with markers. Copyright © 2017 by the Genetics Society of America.

  4. First systematic experience of preimplantation genetic diagnosis for single-gene disorders, and/or preimplantation human leukocyte antigen typing, combined with 24-chromosome aneuploidy testing.

    Science.gov (United States)

    Rechitsky, Svetlana; Pakhalchuk, Tatiana; San Ramos, Geraldine; Goodman, Adam; Zlatopolsky, Zev; Kuliev, Anver

    2015-02-01

    To study the feasibility, accuracy, and reproductive outcome of 24-chromosome aneuploidy testing (24-AT), combined with preimplantation genetic diagnosis (PGD) for single-gene disorders (SGDs) or human leukocyte antigen (HLA) typing in the same biopsy sample. Retrospective study. Preimplantation genetic diagnosis center. A total of 238 PGD patients, average age 36.8 years, for whom 317 combined PGD cycles were performed, involving 105 different conditions, with or without HLA typing. Whole-genome amplification product, obtained in 24-AT, was used for PGD and/or HLA typing in the same blastomere or blastocyst biopsy samples. Proportion of the embryos suitable for transfer detected in these blastomere or blastocyst samples, and the resulting pregnancy and spontaneous abortion rates. Embryos suitable for transfer were detected in 42% blastocyst and 25.1% blastomere samples, with a total of 280 unaffected, HLA-matched euploid embryos detected for transfer in 212 cycles (1.3 embryos per transfer), resulting in 145 (68.4%) unaffected pregnancies and birth of 149 healthy, HLA-matched children. This outcome is significantly different from that of our 2,064 PGD cycle series without concomitant 24-AT, including improved pregnancy (68.4% vs. 45.4%) and 3-fold spontaneous abortion reduction (5.5% vs. 15%) rates. The introduced combined approach is a potential universal PGD test, which in addition to achieving extremely high diagnostic accuracy, significantly improves reproductive outcomes of PGD for SGDs and HLA typing in patients of advanced reproductive age. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  5. Identification of Combined Genetic Determinants of Liver Stiffness within the SREBP1c-PNPLA3 Pathway

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    Frank Lammert

    2013-10-01

    Full Text Available The common PNPLA3 (adiponutrin variant, p.I148M, was identified as a genetic determinant of liver fibrosis. Since the expression of PNPLA3 is induced by sterol regulatory element binding protein 1c (SREBP1c, we investigate two common SREBP1c variants (rs2297508 and rs11868035 for their association with liver stiffness. In 899 individuals (aged 17–83 years, 547 males with chronic liver diseases, hepatic fibrosis was non-invasively phenotyped by transient elastography (TE. The SREBP1c single nucleotide polymorphisms (SNPs were genotyped using PCR-based assays with 5'-nuclease and fluorescence detection. The SREBP1c rs11868035 variant affected liver fibrosis significantly (p = 0.029: median TE levels were 7.2, 6.6 and 6.0 kPa in carriers of (TT (n = 421, (CT (n = 384 and (CC (n = 87 genotypes, respectively. Overall, the SREBP1c SNP was associated with low TE levels (5.0–8.0 kPa. Carriers of both PNPLA3 and SREBP1c risk genotypes displayed significantly (p = 0.005 higher median liver stiffness, as compared to patients carrying none of these variants. The common SREBP1c variant may affect early stages of liver fibrosis. Our study supports a role of the SREBP1c-PNPLA3 pathway as a “disease module” that promotes hepatic fibrogenesis.

  6. An Automatic K-Means Clustering Algorithm of GPS Data Combining a Novel Niche Genetic Algorithm with Noise and Density

    Directory of Open Access Journals (Sweden)

    Xiangbing Zhou

    2017-12-01

    Full Text Available Rapidly growing Global Positioning System (GPS data plays an important role in trajectory and their applications (e.g., GPS-enabled smart devices. In order to employ K-means to mine the better origins and destinations (OD behind the GPS data and overcome its shortcomings including slowness of convergence, sensitivity to initial seeds selection, and getting stuck in a local optimum, this paper proposes and focuses on a novel niche genetic algorithm (NGA with density and noise for K-means clustering (NoiseClust. In NoiseClust, an improved noise method and K-means++ are proposed to produce the initial population and capture higher quality seeds that can automatically determine the proper number of clusters, and also handle the different sizes and shapes of genes. A density-based method is presented to divide the number of niches, with its aim to maintain population diversity. Adaptive probabilities of crossover and mutation are also employed to prevent the convergence to a local optimum. Finally, the centers (the best chromosome are obtained and then fed into the K-means as initial seeds to generate even higher quality clustering results by allowing the initial seeds to readjust as needed. Experimental results based on taxi GPS data sets demonstrate that NoiseClust has high performance and effectiveness, and easily mine the city’s situations in four taxi GPS data sets.

  7. Genetic Algorithm Combined with Gradient Information for Flexible Job-shop Scheduling Problem with Different Varieties and Small Batches

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    Chen Ming

    2017-01-01

    Full Text Available To solve the Flexible Job-shop Scheduling Problem (FJSP with different varieties and small batches, a modified meta-heuristic algorithm based on Genetic Algorithm (GA is proposed in which gene encoding is divided into process encoding and machine encoding, and according to the encoding mode, the machine gene fragment is connected with the process gene fragment and can be changed with the alteration of process genes. In order to get the global optimal solutions, the crossover and mutation operation of the process gene fragment and machine gene fragment are carried out respectively. In the initialization operation, the machines with shorter manufacturing time are more likely to be chosen to accelerate the convergence speed and then the tournament selection strategy is applied due to the minimum optimization objective. Meanwhile, a judgment condition of the crossover point quantity is introduced to speed up the population evolution and as an important interaction bridge between the current machine and alternative machines in the incidence matrix, a novel mutation operation of machine genes is proposed to achieve the replacement of manufacturing machines. The benchmark test shows the correctness of proposed algorithm and the case simulation proves the proposed algorithm has better performance compared with existing algorithms.

  8. MACRO: a combined microchip-PCR and microarray system for high-throughput monitoring of genetically modified organisms.

    Science.gov (United States)

    Shao, Ning; Jiang, Shi-Meng; Zhang, Miao; Wang, Jing; Guo, Shu-Juan; Li, Yang; Jiang, He-Wei; Liu, Cheng-Xi; Zhang, Da-Bing; Yang, Li-Tao; Tao, Sheng-Ce

    2014-01-21

    The monitoring of genetically modified organisms (GMOs) is a primary step of GMO regulation. However, there is presently a lack of effective and high-throughput methodologies for specifically and sensitively monitoring most of the commercialized GMOs. Herein, we developed a multiplex amplification on a chip with readout on an oligo microarray (MACRO) system specifically for convenient GMO monitoring. This system is composed of a microchip for multiplex amplification and an oligo microarray for the readout of multiple amplicons, containing a total of 91 targets (18 universal elements, 20 exogenous genes, 45 events, and 8 endogenous reference genes) that covers 97.1% of all GM events that have been commercialized up to 2012. We demonstrate that the specificity of MACRO is ~100%, with a limit of detection (LOD) that is suitable for real-world applications. Moreover, the results obtained of simulated complex samples and blind samples with MACRO were 100% consistent with expectations and the results of independently performed real-time PCRs, respectively. Thus, we believe MACRO is the first system that can be applied for effectively monitoring the majority of the commercialized GMOs in a single test.

  9. Preimplantation genetic diagnosis of Von Hippel-Lindau disease cancer syndrome by combined mutation and segregation analysis

    Directory of Open Access Journals (Sweden)

    Denilce R. Sumita

    2007-03-01

    Full Text Available Von Hippel-Lindau (VHL disease is an autosomal dominant cancer syndrome, associated with the development of tumors and cysts in multiple organ systems, whose expression and age of onset are highly variable. The VHL disease tumor suppressor gene (VHL maps to 3p25-p26 and mutations ranging from a single base change to large deletions have been detected in patients with VHL disease. We developed a single cell PCR protocol for preimplantation genetic diagnosis (PGD of VHL disease to select unaffected embryos on the basis of the detection of the specific mutation and segregation analysis of polymorphic linked markers. Multiplex-nested PCR using single buccal cells of an affected individual were performed in order to test the accuracy and reliability of this single-cell protocol. For each locus tested, amplification efficiency was 83% to 87% and allelic drop-out rates ranged from 12% to 8%. Three VHL disease PGD cycles were performed on cells from a couple with paternal transmission of a 436delC mutation in exon 2 of the VHL gene, leading to the identification of three unaffected embryos. Independent of the mutation present, this general PGD protocol for the diagnosis of VHL disease can be used in families informative for either the D3S1038 or D3S1317 microsatellite markers.

  10. Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study

    Science.gov (United States)

    2010-01-01

    Background Hypertriglyceridemia (HTG) is a well-established independent risk factor for cardiovascular disease and the influence of several genetic variants in genes related with triglyceride (TG) metabolism has been described, including LPL, APOA5 and APOE. The combined analysis of these polymorphisms could produce clinically meaningful complementary information. Methods A subgroup of the ICARIA study comprising 1825 Spanish subjects (80% men, mean age 36 years) was genotyped for the LPL-HindIII (rs320), S447X (rs328), D9N (rs1801177) and N291S (rs268) polymorphisms, the APOA5-S19W (rs3135506) and -1131T/C (rs662799) variants, and the APOE polymorphism (rs429358; rs7412) using PCR and restriction analysis and TaqMan assays. We used regression analyses to examine their combined effects on TG levels (with the log-transformed variable) and the association of variant combinations with TG levels and hypertriglyceridemia (TG ≥ 1.69 mmol/L), including the covariates: gender, age, waist circumference, blood glucose, blood pressure, smoking and alcohol consumption. Results We found a significant lowering effect of the LPL-HindIII and S447X polymorphisms (p hypertriglyceridemia. PMID:20429872

  11. Combining noninvasive genetics and a new mammalian sex-linked marker provides new tools to investigate population size, structure and individual behaviour: An application to bats.

    Science.gov (United States)

    Zarzoso-Lacoste, Diane; Jan, Pierre-Loup; Lehnen, Lisa; Girard, Thomas; Besnard, Anne-Laure; Puechmaille, Sebastien J; Petit, Eric J

    2018-03-01

    Monitoring wild populations is crucial for their effective management. Noninvasive genetic methods provide robust data from individual free-ranging animals, which can be used in capture-mark-recapture (CMR) models to estimate demographic parameters without capturing or disturbing them. However, sex- and status-specific behaviour, which may lead to differences in detection probabilities, is rarely considered in monitoring. Here, we investigated population size, sex ratio, sex- and status-related behaviour in 19 Rhinolophus hipposideros maternity colonies (Northern France) with a noninvasive genetic CMR approach (using faeces) combined with parentage assignments. The use of the DDX3X/Y-Mam sexual marker designed in this study, which shows inter- and intrachromosomal length polymorphism across placental mammals, together with eight polymorphic microsatellite markers, produced high-quality genetic data with limited genotyping errors and allowed us to reliably distinguish different categories of individuals (males, reproductive and nonreproductive females) and to estimate population sizes. We showed that visual counts represent well-adult female numbers and that population composition in maternity colonies changes dynamically during the summer. Before parturition, colonies mainly harbour pregnant and nonpregnant females with a few visiting males, whereas after parturition, colonies are mainly composed of mothers and their offspring with a few visiting nonmothers and males. Our approach gives deeper insight into sex- and status-specific behaviour, a prerequisite for understanding population dynamics and developing effective monitoring and management strategies. Provided sufficient samples can be obtained, this approach can be readily applied to a wide range of species. © 2017 John Wiley & Sons Ltd.

  12. Combining field performance with controlled environment plant imaging to identify the genetic control of growth and transpiration underlying yield response to water-deficit stress in wheat.

    Science.gov (United States)

    Parent, Boris; Shahinnia, Fahimeh; Maphosa, Lance; Berger, Bettina; Rabie, Huwaida; Chalmers, Ken; Kovalchuk, Alex; Langridge, Peter; Fleury, Delphine

    2015-09-01

    Crop yield in low-rainfall environments is a complex trait under multigenic control that shows significant genotype×environment (G×E) interaction. One way to understand and track this trait is to link physiological studies to genetics by using imaging platforms to phenotype large segregating populations. A wheat population developed from parental lines contrasting in their mechanisms of yield maintenance under water deficit was studied in both an imaging platform and in the field. We combined phenotyping methods in a common analysis pipeline to estimate biomass and leaf area from images and then inferred growth and relative growth rate, transpiration, and water-use efficiency, and applied these to genetic analysis. From the 20 quantitative trait loci (QTLs) found for several traits in the platform, some showed strong effects, accounting for between 26 and 43% of the variation on chromosomes 1A and 1B, indicating that the G×E interaction could be reduced in a controlled environment and by using dynamic variables. Co-location of QTLs identified in the platform and in the field showed a possible common genetic basis at some loci. Co-located QTLs were found for average growth rate, leaf expansion rate, transpiration rate, and water-use efficiency from the platform with yield, spike number, grain weight, grain number, and harvest index in the field. These results demonstrated that imaging platforms are a suitable alternative to field-based screening and may be used to phenotype recombinant lines for positional cloning. © The Author 2015. Published by Oxford University Press on behalf of the Society for Experimental Biology.

  13. Combining Diffusion Models and Macroeconomic Indicators with a Modified Genetic Programming Method: Implementation in Forecasting the Number of Mobile Telecommunications Subscribers in OECD Countries

    Directory of Open Access Journals (Sweden)

    Konstantinos Salpasaranis

    2014-01-01

    Full Text Available This paper proposes a modified Genetic Programming method for forecasting the mobile telecommunications subscribers’ population. The method constitutes an expansion of the hybrid Genetic Programming (hGP method improved by the introduction of diffusion models for technological forecasting purposes in the initial population, such as the Logistic, Gompertz, and Bass, as well as the Bi-Logistic and LogInLog. In addition, the aforementioned functions and models expand the function set of hGP. The application of the method in combination with macroeconomic indicators such as Gross Domestic Product per Capita (GDPpC and Consumer Prices Index (CPI leads to the creation of forecasting models and scenarios for medium- and long-term level of predictability. The forecasting module of the program has also been improved with the multi-levelled use of the statistical indices as fitness functions and model selection indices. The implementation of the modified-hGP in the datasets of mobile subscribers in the Organisation for Economic Cooperation and Development (OECD countries shows very satisfactory forecasting performance.

  14. Growth and Its Relationship to Individual Genetic Diversity of Mountain Hemlock (Tsuga mertensiana at Alpine Treeline in Alaska: Combining Dendrochronology and Genomics

    Directory of Open Access Journals (Sweden)

    Jeremy S. Johnson

    2017-11-01

    Full Text Available Globally, alpine treelines are characterized as temperature-limited environments with strong controls on tree growth. However, at local scales spatially heterogeneous environments generally have more variable impacts on individual patterns of tree growth. In addition to the landscape spatial heterogeneity there is local variability in individual tree genetic diversity (level of individual heterozygosity. It has been hypothesized that higher individual heterozygosity will result in more consistent patterns of growth. In this article, we combine genomics and dendrochronology to explore the relationship between individual genetic diversity and tree growth at a mountain hemlock (Tsuga mertensiana Bong. Carr alpine treeline on the Kenai Peninsula, Alaska, USA. We correlated average observed individual heterozygosity with average tree-ring width and variance in tree-ring width within individuals to test the hypothesis that trees with higher individual heterozygosity will also have more consistent growth patterns, suggesting that they may be more resilient to climate and environmental fluctuations at the alpine treeline. Our results showed that there was no significant relationship between tree growth and individual heterozygosity. However, there was a significant positive relationship between average tree-ring width and variance in tree-ring width implying that overall, fast growing trees in stressful environments, such as the alpine treeline, grow unstably regardless of the level of individual heterozygosity.

  15. A method to optimize the shield compact and lightweight combining the structure with components together by genetic algorithm and MCNP code.

    Science.gov (United States)

    Cai, Yao; Hu, Huasi; Pan, Ziheng; Hu, Guang; Zhang, Tao

    2018-05-17

    To optimize the shield for neutrons and gamma rays compact and lightweight, a method combining the structure and components together was established employing genetic algorithms and MCNP code. As a typical case, the fission energy spectrum of 235 U which mixed neutrons and gamma rays was adopted in this study. Six types of materials were presented and optimized by the method. Spherical geometry was adopted in the optimization after checking the geometry effect. Simulations have made to verify the reliability of the optimization method and the efficiency of the optimized materials. To compare the materials visually and conveniently, the volume and weight needed to build a shield are employed. The results showed that, the composite multilayer material has the best performance. Copyright © 2018 Elsevier Ltd. All rights reserved.

  16. Validation of the surge model and lessons learnt from commissioning of the Shuweihat water transmission scheme, UAE

    NARCIS (Netherlands)

    Leruth, P.; Pothof, I.W.M.; Naja, F.

    2012-01-01

    This paper presents a validation of the surge modeling results as well as lessons learnt from the commissioning test of the Shuweihat Water Transmission Scheme in the UAE. The Scheme is divided in two systems, The first system (Lot A) transmits water from Shuweihat to Mirfa (100 km). The second (Lot

  17. Application of GAMMA ray for induction of mutation and combination with biotechnology for induce desirable genetic variation in Tangerine

    International Nuclear Information System (INIS)

    Rahimi, M.; Majd, F.; Rastegari, J.; Vedadi, S.; Naseri, M.; Jahangirzadeh, E.

    2002-01-01

    Combined application of physical mutagen and tissue culture for induction of somatic mutation in some characters without affecting the whole genome proved to be an efficient tool for improvement of plant trees.Up to now substantial breeding research has not been done on fruit trees in Iran. We are intending to begin a new era in fruit trees improvement through mutation and biotechnology. On this basis we selected tangerine as a well-adapted and highly consumed citrus fruit which has a disadvantage of too many seeds in it's flesh. Through this technique the aim is to produce seedless/less seeded tangerine in order to motivate increase in cultivation area and potential for export. We used physical mutagen (γ-ray) with doses of (30,35 and 40 Gy) for lateral bud in vivo and doses of (10, 15 and 20 Gy) for bud in-vitro. To produce explant free of pathogen we used shoot tip grafting (stg) technique, and micropropagation of bud in modified MS medium for multiplication of buds

  18. Quantitative EEG and Current Source Density Analysis of Combined Antiepileptic Drugs and Dopaminergic Agents in Genetic Epilepsy: Two Case Studies.

    Science.gov (United States)

    Emory, Hamlin; Wells, Christopher; Mizrahi, Neptune

    2015-07-01

    Two adolescent females with absence epilepsy were classified, one as attention deficit and the other as bipolar disorder. Physical and cognitive exams identified hypotension, bradycardia, and cognitive dysfunction. Their initial electroencephalograms (EEGs) were considered slightly slow, but within normal limits. Quantitative EEG (QEEG) data included relative theta excess and low alpha mean frequencies. A combined treatment of antiepileptic drugs with a catecholamine agonist/reuptake inhibitor was sequentially used. Both patients' physical and cognitive functions improved and they have remained seizure free. The clinical outcomes were correlated with statistically significant changes in QEEG measures toward normal Z-scores in both anterior and posterior regions. In addition, low resolution electromagnetic tomography (LORETA) Z-scored source correlation analyses of the initial and treated QEEG data showed normalized patterns, supporting a neuroanatomic resolution. This study presents preliminary evidence for a neurophysiologic approach to patients with absence epilepsy and comorbid disorders and may provide a method for further research. © EEG and Clinical Neuroscience Society (ECNS) 2014.

  19. Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study

    Directory of Open Access Journals (Sweden)

    Valdivielso Pedro

    2010-04-01

    Full Text Available Abstract Background Hypertriglyceridemia (HTG is a well-established independent risk factor for cardiovascular disease and the influence of several genetic variants in genes related with triglyceride (TG metabolism has been described, including LPL, APOA5 and APOE. The combined analysis of these polymorphisms could produce clinically meaningful complementary information. Methods A subgroup of the ICARIA study comprising 1825 Spanish subjects (80% men, mean age 36 years was genotyped for the LPL-HindIII (rs320, S447X (rs328, D9N (rs1801177 and N291S (rs268 polymorphisms, the APOA5-S19W (rs3135506 and -1131T/C (rs662799 variants, and the APOE polymorphism (rs429358; rs7412 using PCR and restriction analysis and TaqMan assays. We used regression analyses to examine their combined effects on TG levels (with the log-transformed variable and the association of variant combinations with TG levels and hypertriglyceridemia (TG ≥ 1.69 mmol/L, including the covariates: gender, age, waist circumference, blood glucose, blood pressure, smoking and alcohol consumption. Results We found a significant lowering effect of the LPL-HindIII and S447X polymorphisms (p APOE-ε4 allele were significantly associated with an independent additive TG-raising effect (p p p p p p p = 0.042 and having one single raising polymorphism (OR = 1.20; 95% CI, 1.39-2.87; p p Conclusion Our results showed a significant independent additive effect on TG levels of the LPL polymorphisms HindIII, S447X, D9N and N291S; the S19W and -1131T/C variants of APOA5, and the ε4 allele of APOE in our study population. Moreover, some of the variant combinations studied were significantly associated with the absence or the presence of hypertriglyceridemia.

  20. COMBINATION OF GENETIC ALGORITHM AND DEMPSTER-SHAFER THEORY OF EVIDENCE FOR LAND COVER CLASSIFICATION USING INTEGRATION OF SAR AND OPTICAL SATELLITE IMAGERY

    Directory of Open Access Journals (Sweden)

    H. T. Chu

    2012-07-01

    Full Text Available The integration of different kinds of remotely sensed data, in particular Synthetic Aperture Radar (SAR and optical satellite imagery, is considered a promising approach for land cover classification because of the complimentary properties of each data source. However, the challenges are: how to fully exploit the capabilities of these multiple data sources, which combined datasets should be used and which data processing and classification techniques are most appropriate in order to achieve the best results. In this paper an approach, in which synergistic use of a feature selection (FS methods with Genetic Algorithm (GA and multiple classifiers combination based on Dempster-Shafer Theory of Evidence, is proposed and evaluated for classifying land cover features in New South Wales, Australia. Multi-date SAR data, including ALOS/PALSAR, ENVISAT/ASAR and optical (Landsat 5 TM+ images, were used for this study. Textural information were also derived and integrated with the original images. Various combined datasets were generated for classification. Three classifiers, namely Artificial Neural Network (ANN, Support Vector Machines (SVMs and Self-Organizing Map (SOM were employed. Firstly, feature selection using GA was applied for each classifier and dataset to determine the optimal input features and parameters. Then the results of three classifiers on particular datasets were combined using the Dempster-Shafer theory of Evidence. Results of this study demonstrate the advantages of the proposed method for land cover mapping using complex datasets. It is revealed that the use of GA in conjunction with the Dempster-Shafer Theory of Evidence can significantly improve the classification accuracy. Furthermore, integration of SAR and optical data often outperform single-type datasets.

  1. Functional analysis of neuronal microRNAs in Caenorhabditis elegans dauer formation by combinational genetics and Neuronal miRISC immunoprecipitation.

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    Minh T Than

    2013-06-01

    Full Text Available Identifying the physiological functions of microRNAs (miRNAs is often challenging because miRNAs commonly impact gene expression under specific physiological conditions through complex miRNA::mRNA interaction networks and in coordination with other means of gene regulation, such as transcriptional regulation and protein degradation. Such complexity creates difficulties in dissecting miRNA functions through traditional genetic methods using individual miRNA mutations. To investigate the physiological functions of miRNAs in neurons, we combined a genetic "enhancer" approach complemented by biochemical analysis of neuronal miRNA-induced silencing complexes (miRISCs in C. elegans. Total miRNA function can be compromised by mutating one of the two GW182 proteins (AIN-1, an important component of miRISC. We found that combining an ain-1 mutation with a mutation in unc-3, a neuronal transcription factor, resulted in an inappropriate entrance into the stress-induced, alternative larval stage known as dauer, indicating a role of miRNAs in preventing aberrant dauer formation. Analysis of this genetic interaction suggests that neuronal miRNAs perform such a role partly by regulating endogenous cyclic guanosine monophosphate (cGMP signaling, potentially influencing two other dauer-regulating pathways. Through tissue-specific immunoprecipitations of miRISC, we identified miRNAs and their likely target mRNAs within neuronal tissue. We verified the biological relevance of several of these miRNAs and found that many miRNAs likely regulate dauer formation through multiple dauer-related targets. Further analysis of target mRNAs suggests potential miRNA involvement in various neuronal processes, but the importance of these miRNA::mRNA interactions remains unclear. Finally, we found that neuronal genes may be more highly regulated by miRNAs than intestinal genes. Overall, our study identifies miRNAs and their targets, and a physiological function of these miRNAs in

  2. Flipped Learning, MOOCs and Learning Analytics: Lessons learnt from a Web Map Design course redesign

    Science.gov (United States)

    Treves, R.

    2013-12-01

    Five weeks content of a 12 week course in web map design were converted to 'flipped learning': Lecture sessions were replaced by online short video lectures and multiple choice questions to be completed outside class. Class time was taken up with activities and exercises linked to the online learning. Students use of the online content was carefully tracked and detailed student feedback gathered. The response from students was good, 90% of them completed all the out of class activities and their feedback was very positive. The format has the advantage of being easily repurposed as a MOOC or scaled up in other ways. Lessons learnt from the implementation of the materials and the analysis of the VLE logs will be discussed as will ongoing efforts to reuse the materials in a MOOC.

  3. Lessons learnt on recruitment and fieldwork from a pilot European human biomonitoring survey

    DEFF Research Database (Denmark)

    Fiddicke, Ulrike; Becker, Kerstin; Schwedler, Gerda

    2015-01-01

    , training of interviewers in all issues of recruitment, fieldwork and sampling through information material and training sessions is crucial. A survey involving many European countries needs time for preparation and conduct. Materials for quality control prepared for all steps of recruitment, fieldwork...... biomonitoring (HBM) survey which came into action as the pilot study DEMOCOPHES (DEMOnstration of a study to COordinate and Perform Human biomonitoring on a European Scale). Seventeen European countries conducted a survey with harmonized instruments for, inter alia, recruitment, fieldwork and sampling......, in autumn/winter 2011/2012. Based on the countries' experiences of conducting the pilot study, following lessons learnt were compiled: the harmonized fieldwork instruments (basic questionnaire, urine and hair sampling) turned out to be very valuable for future HBM surveys on the European scale. A school...

  4. Improving South African third graders’ reading skills: Lessons learnt from the use of Guided Reading approach

    Directory of Open Access Journals (Sweden)

    Mohlanhledi P. Makumbila

    2016-06-01

    Full Text Available This professional development project, known as Literacy Leadership Project, enabled four Foundation Phase teachers in South Africa to implement the Guided Reading approach. Developed by American researchers Fountas and Pinnell (1996, Guided Reading helps elementary students strengthen their phonemic awareness, vocabulary, reading comprehension and fluency in small group activities. Over an 8-month period, lessons learnt came from data collected from this professional development included workshop activities, classroom observations, teachers’ group discussions and students’ artefacts. Results indicated improvement in students’ literacy engagement and motivation because of the use of levelled books, oral reading and group activities Keywords:  Guided Reading programme; foundation phase; childhood literacy; teacher professional development; literacy leadership; South Africa

  5. Assembly and Quality Control of the LHC Cryostats at CERN Motivations, Means, Results and Lessons Learnt

    CERN Document Server

    Poncet, A; Parma, V; Strubin, P; Tock, JP; Tommasini, D

    2007-01-01

    In 2001, the project management decided to perform at CERN the final assembly of the LHC superconducting magnets with cryostat parts and cold masses produced by European Industry in large series. This industrial-like production has required a very significant investment in tooling, production facilities, engineering and quality control efforts, in contractual partnership with a consortium of firms. This unusual endeavour of a limited lifetime represented more than 850,000 working hours spanning over five years, the work being done on a result-oriented basis by the contractor. This paper presents the reasons for having conducted this project at CERN, summarizes the work breakdown structure, the production means and methods, the infrastructure specially developed, the tooling, logistics and quality control aspects of the work performed and the results achieved, in analytical form. Finally, the lessons learnt are outlined.

  6. Practical experiences of, and lessons learnt from, Internet technologies in higher education

    Directory of Open Access Journals (Sweden)

    Simon Polovina

    1999-01-01

    Full Text Available The paper addresses how the Internet as computer-mediated communication is affecting teaching and learning in higher education institutions, particularly as these institutions face increasing competition due to the emergence of Web-based collaboration and assessment technologies. London’s South Bank University (SBU, a typical modern-day higher education institution is thereby in the process of integrating Internet technologies into its conventional and distance learning programmes. From its practical experiences so far SBU has learnt a variety of valuable lessons. In particular the technical and social aspects that determine the choice and use of the most appropriate software tools were identified, as well as a new approach towards online (Internet / Web subject reference sources was outlined. From SBU’s anecdotal experiences, useful recommendations are made for the effective use of Internet technologies that applies to many higher educational institutions.

  7. Survey on national practices and lessons learnt from off-site nuclear emergency exercises

    International Nuclear Information System (INIS)

    Viktorsson, C.

    1993-01-01

    Nuclear emergency exercises are considered to make an important contribution to the efficiency of emergency preparedness. Generally, the details of the emergency exercises are specified for each country and often for each site, reflecting the particular features that exist in relation to general emergency arrangements. The Chernobyl accident brought a new dimension into the arena of emergency arrangements - the international dimension. New conventions and revised international guidance have been issued and have been or are being included in national emergency plans. The OECD Nuclear Energy Agency decided in 1990 to promote international co-operation in the field of emergency exercises and has adopted a programme of work in this field. One component of this programme, which concerns a survey on national practices and lessons learnt from the planning and conduct of emergency exercises, is dealt with in this paper

  8. Lessons learnt from Fukushima Accident - What did McMaster Undergraduate Students learn?

    Energy Technology Data Exchange (ETDEWEB)

    Nagasaki, S., E-mail: nagasas@mcmaster.ca [McMaster University, Hamilton, ON, (Canada)

    2015-07-01

    Nuclear communities not only in Japan but also around the world learnt a lot of lessons from the Fukushima accident. The direct cause of the accident from the viewpoint of traditional engineering is clear, and as a result various measures have been implemented around the world. The accident also provides many insights into the relationship between traditional engineering and Japanese society. In this paper, the root causes of the accident were studied by applying a psychological model for evocation of an individual's anxiety related to social affairs [1] to the discussions in an undergraduate course at McMaster University. In the last section, the challenges, which McMaster students considered Japanese nuclear community is now facing and Canadian nuclear community can contribute to in future, are summarized. (author)

  9. Lessons learnt from Fukushima Accident - What did McMaster Undergraduate Students learn?

    International Nuclear Information System (INIS)

    Nagasaki, S.

    2015-01-01

    Nuclear communities not only in Japan but also around the world learnt a lot of lessons from the Fukushima accident. The direct cause of the accident from the viewpoint of traditional engineering is clear, and as a result various measures have been implemented around the world. The accident also provides many insights into the relationship between traditional engineering and Japanese society. In this paper, the root causes of the accident were studied by applying a psychological model for evocation of an individual's anxiety related to social affairs [1] to the discussions in an undergraduate course at McMaster University. In the last section, the challenges, which McMaster students considered Japanese nuclear community is now facing and Canadian nuclear community can contribute to in future, are summarized. (author)

  10. Developing written information for cancer survivors from culturally and linguistically diverse backgrounds: Lessons learnt

    Directory of Open Access Journals (Sweden)

    Georgina Wiley

    2018-01-01

    Full Text Available Australia is a multicultural nation with a large migrant population. Migrants with cancer report inferior quality of life and the need for more information in their own language. This paper describes lessons learnt from developing culturally appropriate written information resources with and for Arabic, Italian, and Vietnamese cancer survivors and carers. The information needs of survivors from these language groups as well as guidelines for the development of written resources for culturally diverse populations were identified through literature review. Community consultation was undertaken with focus groups. The content was developed and tested with health professionals who spoke the appropriate language and focus group participants, ensuring relevance and appropriateness. Resource design and dissemination were informed through community consultation. A number of key tasks for developing resources were identified as follows: (1 community engagement and consultation; (2 culturally sensitive data collection; (3 focus group facilitators (recruitment and training; (4 content development; (5 translation and review process; (6 design; and (7 sustainability. This project reinforced literature review findings on the importance of cultural sensitivity in the development of resources. Engaging with community groups and incorporating culturally appropriate recruitment strategies optimises recruitment to focus groups and facilitates content development. Stakeholders and lay persons from the intended ethnic-minority communities should be involved in the development and formative evaluation of resources to ensure appropriateness and relevance and in the dissemination strategy to optimize penetration. We believe the lessons we have learnt will be relevant to any group intending to develop health information for culturally and linguistic diverse groups.

  11. Environmental implications for disaster preparedness: lessons learnt from the Indian Ocean Tsunami.

    Science.gov (United States)

    Srinivas, Hari; Nakagawa, Yuko

    2008-10-01

    The impact of disasters, whether natural or man-made, not only has human dimensions, but environmental ones as well. Environmental conditions may exacerbate the impact of a disaster, and vice versa, disasters tend to have an impact on the environment. Deforestation, forest management practices, or agriculture systems can worsen the negative environmental impacts of a storm or typhoon, leading to landslides, flooding, silting, and ground/surface water contamination. We have only now come to understand these cyclical causes and impacts and realize that taking care of our natural resources and managing them wisely not only assures that future generations will be able to live in sustainable ways, but also reduces the risks that natural and man-made hazards pose to people living today. Emphasizing and reinforcing the centrality of environmental concerns in disaster management has become a critical priority, requiring the sound management of natural resources as a tool to prevent disasters and lessen their impacts on people, their homes, and livelihoods. As the horrors of the Asian tsunami of December 2004 continue to be evaluated, and people in the region slowly attempt to build a semblance of normalcy, we have to look to the lessons learnt from the tsunami disaster as an opportunity to prepare ourselves better for future disasters. This article focuses on findings and lessons learnt on the environmental aspects of the tsunami, and its implications on disaster preparedness plans. This article essentially emphasizes the cyclical interrelations between environments and disasters, by studying the findings and assessments of the recent Indian Ocean earthquake and tsunami that struck on 26 December 2004. It specifically looks at four key affected countries--Maldives, Sri Lanka, Indonesia, and Thailand.

  12. On-line monitoring of extraction process of Flos Lonicerae Japonicae using near infrared spectroscopy combined with synergy interval PLS and genetic algorithm

    Science.gov (United States)

    Yang, Yue; Wang, Lei; Wu, Yongjiang; Liu, Xuesong; Bi, Yuan; Xiao, Wei; Chen, Yong

    2017-07-01

    There is a growing need for the effective on-line process monitoring during the manufacture of traditional Chinese medicine to ensure quality consistency. In this study, the potential of near infrared (NIR) spectroscopy technique to monitor the extraction process of Flos Lonicerae Japonicae was investigated. A new algorithm of synergy interval PLS with genetic algorithm (Si-GA-PLS) was proposed for modeling. Four different PLS models, namely Full-PLS, Si-PLS, GA-PLS, and Si-GA-PLS, were established, and their performances in predicting two quality parameters (viz. total acid and soluble solid contents) were compared. In conclusion, Si-GA-PLS model got the best results due to the combination of superiority of Si-PLS and GA. For Si-GA-PLS, the determination coefficient (Rp2) and root-mean-square error for the prediction set (RMSEP) were 0.9561 and 147.6544 μg/ml for total acid, 0.9062 and 0.1078% for soluble solid contents, correspondingly. The overall results demonstrated that the NIR spectroscopy technique combined with Si-GA-PLS calibration is a reliable and non-destructive alternative method for on-line monitoring of the extraction process of TCM on the production scale.

  13. Detection of Healthcare-Related Extended-Spectrum Beta-Lactamase-Producing Escherichia coli Transmission Events Using Combined Genetic and Phenotypic Epidemiology.

    Directory of Open Access Journals (Sweden)

    Anne F Voor In 't Holt

    Full Text Available Since the year 2000 there has been a sharp increase in the prevalence of healthcare-related infections caused by extended-spectrum beta-lactamase (ESBL-producing Escherichia coli. However, the high community prevalence of ESBL-producing E. coli isolates means that many E. coli typing techniques may not be suitable for detecting E. coli transmission events. Therefore, we investigated if High-throughput MultiLocus Sequence Typing (HiMLST and/or Raman spectroscopy were suitable techniques for detecting recent E. coli transmission events.This study was conducted from January until December 2010 at Erasmus University Medical Center, Rotterdam, the Netherlands. Isolates were typed using HiMLST and Raman spectroscopy. A genetic cluster was defined as two or more patients carrying identical isolates. We used predefined definitions for epidemiological relatedness to assess healthcare-related transmission.We included 194 patients; strains of 112 patients were typed using HiMLST and strains of 194 patients were typed using Raman spectroscopy. Raman spectroscopy identified 16 clusters while HiMLST identified 10 clusters. However, no healthcare-related transmission events were detected. When combining data from both typing techniques, we identified eight clusters (n = 34 patients, as well as 78 patients with a non-cluster isolate. However, we could not detect any healthcare-related transmission in these 8 clusters.Although clusters were genetically detected using HiMLST and Raman spectroscopy, no definite epidemiological relationships could be demonstrated which makes the possibility of healthcare-related transmission events highly unlikely. Our results suggest that typing of ESBL-producing E. coli using HiMLST and/or Raman spectroscopy is not helpful in detecting E. coli healthcare-related transmission events.

  14. Susceptibility of Biomphalaria spp. to infection with Schistosoma mansoni in sympatric and allopatric combinations with observations on the genetic variability between snails.

    Science.gov (United States)

    Mostafa, Osama M S; El-Dafrawy, Shadia M

    2011-08-25

    This investigation was carried out to study the susceptibility of Saudi Biomphalaria arabica to Egyptian Schistosoma mansoni in comparison with the susceptibility of Egyptian Biomphalaria alexandrina to the same parasite. This was in order to know the possibility that the parasite might be able to spread into Saudi Arabia and to determine the genetic variability between Egyptian B. alexandrina and Saudi Biomphalaria arabica snails. Lab bred Egyptian B. alexandrina and Saudi B. arabica snails were exposed individually to 10 freshly hatched Egyptian S. mansoni miracidia/snail. The mortality rate, infection rate, prepatent period, duration of cercarial shedding and cercariae production per snail were recorded in both the sympatric couple (Egyptian B. alexandrina and Egyptian S. mansoni) and in the allopatric combination (Saudi B. arabica and Egyptian S. mansoni). The results revealed that, the survival rate of snails exposed to Egyptian S. mansoni miracidia at 34th day post-exposure (at first cercarial shedding) was higher in B. arabica than in B. alexandrina. After shedding, the mortality rate was higher in the B. arabica, compared to B. alexandrina. The infection rate was higher in B. arabica than B. alexandrina; the mean of prepatent period was shorter in the B. arabica than in the B. alexandrina. However, the duration of cercarial shedding was longer in the Egyptian snails and the cercarial production per snail was higher in B. alexandrina snails than in B. arabica. To study the genetic variability between B. alexandrina and B. arabica, RAPD-PCR on the genomic DNA of snails was done. RAPD-PCR revealed significant variation between the two snail species. In conclusion, the results suggest that B. arabica can play a role in the transmission of Egyptian S. mansoni in Saudi Arabia and therefore this parasite might be able to spread into the Kingdom. In addition, the RAPD-PCR results demonstrated genetic variability between the two species which may be related to the

  15. Combination of genetics and spatial modelling highlights the sensitivity of cod (Gadus morhua) population diversity in the North Sea to distributions of fishing

    DEFF Research Database (Denmark)

    Heath, Michael R.; Culling, Mark A.; Crozier, Walter W.

    2014-01-01

    Conserving genetic diversity in animal populations is important for sustaining their ability to respond to environmental change. However, the “between-population” component of genetic diversity (biocomplexity) is threatened in many exploited populations, particularly marine fish, where harvest ma...

  16. Genetic polymorphism in matrix metalloproteinase-9 and transforming growth factor-β1 and susceptibility to combined pulmonary fibrosis and emphysema in a Chinese population.

    Science.gov (United States)

    Xu, Ling; Bian, Wei; Gu, Xiao-Hua; Shen, Ce

    2017-03-01

    In this study, we aimed to explore the association of genetic polymorphism in matrix metalloproteinase-9 (MMP-9) and transforming growth factor-β1 (TGF-β1) and the susceptibility to combined pulmonary fibrosis and emphysema (CPFE). We examined the polymorphisms of the MMP-9 C-1562T and TGF-β1 T869C in 38 CPFE patients, 50 pulmonary emphysema patients, and 34 idiopathic pulmonary fibrosis (IPF) patients. The frequencies of polymorphic genotypes in MMP-9 were 78.95% CC and 21.05% CT in CPFE group, 76.0% CC and 24.0% CT in emphysema group, and 100.0% CC in IPF group. There were highly statistically significant increased frequencies of the CT genotype and T allele in CPFE and emphysema groups compared with IPF group (p emphysema group, and 5.88% CC, 41.18% CT, 52.94% TT in IPF group. Significant increases in the TT genotype and T allele frequencies were observed in emphysema group compared with IPF group (p pulmonary emphysema. The T allele in MMP-9 (C-1562T) possibly predisposes patients with pulmonary fibrosis to develop emphysema. Copyright © 2017. Published by Elsevier Taiwan.

  17. Feature Selection for Object-Based Classification of High-Resolution Remote Sensing Images Based on the Combination of a Genetic Algorithm and Tabu Search

    Directory of Open Access Journals (Sweden)

    Lei Shi

    2018-01-01

    Full Text Available In object-based image analysis of high-resolution images, the number of features can reach hundreds, so it is necessary to perform feature reduction prior to classification. In this paper, a feature selection method based on the combination of a genetic algorithm (GA and tabu search (TS is presented. The proposed GATS method aims to reduce the premature convergence of the GA by the use of TS. A prematurity index is first defined to judge the convergence situation during the search. When premature convergence does take place, an improved mutation operator is executed, in which TS is performed on individuals with higher fitness values. As for the other individuals with lower fitness values, mutation with a higher probability is carried out. Experiments using the proposed GATS feature selection method and three other methods, a standard GA, the multistart TS method, and ReliefF, were conducted on WorldView-2 and QuickBird images. The experimental results showed that the proposed method outperforms the other methods in terms of the final classification accuracy.

  18. One simple DNA extraction device and its combination with modified visual loop-mediated isothermal amplification for rapid on-field detection of genetically modified organisms.

    Science.gov (United States)

    Zhang, Miao; Liu, Yinan; Chen, Lili; Quan, Sheng; Jiang, Shimeng; Zhang, Dabing; Yang, Litao

    2013-01-02

    Quickness, simplicity, and effectiveness are the three major criteria for establishing a good molecular diagnosis method in many fields. Herein we report a novel detection system for genetically modified organisms (GMOs), which can be utilized to perform both on-field quick screening and routine laboratory diagnosis. In this system, a newly designed inexpensive DNA extraction device was used in combination with a modified visual loop-mediated isothermal amplification (vLAMP) assay. The main parts of the DNA extraction device included a silica gel membrane filtration column and a modified syringe. The DNA extraction device could be easily operated without using other laboratory instruments, making it applicable to an on-field GMO test. High-quality genomic DNA (gDNA) suitable for polymerase chain reaction (PCR) and isothermal amplification could be quickly isolated from plant tissues using this device within 15 min. In the modified vLAMP assay, a microcrystalline wax encapsulated detection bead containing SYBR green fluorescent dye was introduced to avoid dye inhibition and cross-contaminations from post-LAMP operation. The system was successfully applied and validated in screening and identification of GM rice, soybean, and maize samples collected from both field testing and the Grain Inspection, Packers, and Stockyards Administration (GIPSA) proficiency test program, which demonstrated that it was well-adapted to both on-field testing and/or routine laboratory analysis of GMOs.

  19. Feature Selection for Object-Based Classification of High-Resolution Remote Sensing Images Based on the Combination of a Genetic Algorithm and Tabu Search

    Science.gov (United States)

    Shi, Lei; Wan, Youchuan; Gao, Xianjun

    2018-01-01

    In object-based image analysis of high-resolution images, the number of features can reach hundreds, so it is necessary to perform feature reduction prior to classification. In this paper, a feature selection method based on the combination of a genetic algorithm (GA) and tabu search (TS) is presented. The proposed GATS method aims to reduce the premature convergence of the GA by the use of TS. A prematurity index is first defined to judge the convergence situation during the search. When premature convergence does take place, an improved mutation operator is executed, in which TS is performed on individuals with higher fitness values. As for the other individuals with lower fitness values, mutation with a higher probability is carried out. Experiments using the proposed GATS feature selection method and three other methods, a standard GA, the multistart TS method, and ReliefF, were conducted on WorldView-2 and QuickBird images. The experimental results showed that the proposed method outperforms the other methods in terms of the final classification accuracy. PMID:29581721

  20. Electricity prices in Spain between 2000 and 2011: lessons to be learnt from a descent into Hell

    International Nuclear Information System (INIS)

    2011-01-01

    This note aims at analysing the impact of public authorities' decisions on the Spanish electricity tariffing system since the year 2000: 1 - the Spanish electricity tariff out of touch; 2 - the strategic choice made by Spain; 3 - 2008 crisis and securitization; 4 - a desperate attempt to move backward; 5 - the last ten years balance sheet for the Spanish power system; 6 - the lessons to be learnt from the Spanish experience

  1. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

    DEFF Research Database (Denmark)

    Milne, Roger L; Gaudet, Mia M; Spurdle, Amanda B

    2010-01-01

    Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating in th...

  2. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

    DEFF Research Database (Denmark)

    Milne, Roger L; Gaudet, Mia M; Spurdle, Amanda B

    2010-01-01

    Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating...

  3. Strengthening Regulatory Effectiveness in India – Lessons Learnt from Fukushima Accident

    International Nuclear Information System (INIS)

    Solanki, R.

    2016-01-01

    Following the Fukushima Daiichi accident in Japan, one of the most important lessons learnt, among other things, was the issue of strengthening the effectiveness of the regulatory bodies. Immediately after the Fukushima accident, National level safety audits were conducted on all operating NPPs in India to review safety of NPPs in India. A national action plan has been prepared to implement the identified short term, midterm and long term measures. The assessment indicates that national response to the Fukushima Accident for safety assessment of NPPs and subsequent actions and initiatives taken for safety enhancement of the NPPs in India are in-line with the objectives of the IAEA Action plan. This paper highlights the actions taken by India in the light of Fukushima Daiichi accident in order to strengthen the regulatory effectiveness through improvements in the existing core processes, challenges faced, Insights gained from the recent initiatives on safety performance indicators and assessment of safety culture, relevant observations of IRRS mission report and Indian perspectives on the further cooperation among the member states for enhancing the regulatory effectiveness for nuclear oversight of regulated organizations. (author)

  4. Strategies for recruiting South Asian women to cancer screening research and the lessons learnt.

    Science.gov (United States)

    Chan, Dorothy N S; So, Winnie K W

    2016-11-01

    The aim of this study was to describe and discuss the recruitment strategies used in a research study of cervical cancer screening among South Asian women, the challenges encountered and the lessons learnt from the experience. Ethnic minority populations face different barriers to participating in research studies. Strategies have been developed to recruit this population to health-related research in Western countries, but there is little information about such research in the Asian region. Discussion paper. The discussion is based on our previous experience. The source of this experience is the recruitment strategies used, their results and the challenges encountered during the process. Culturally, relevant strategies and maintaining good relationships with stakeholders improved participant recruitment. Familiarity with South Asians' traditional calendar - when cultural and religious festivals are held every year - would aid the setting up of appropriate schedules for participant recruitment, either before or after the periods when they cannot be reached, such as Ramadan. South Asian women are often busy with childcare and housework. This is their major responsibility in the family and any failure to fulfil such duties is a source of stress and may foster feelings of guilt. A better understanding of their daily routines is therefore important. Such information enables the establishment of daily meeting schedules to increase the success rate of recruitment. Recruitment is a tedious process, but appropriate planning and taking account of cultural and religious practices and daily schedules will help to improve its rate of success. © 2016 John Wiley & Sons Ltd.

  5. Lessons learnt from a three-year pilot field epidemiology training programme.

    Science.gov (United States)

    Hoy, Damian; Durand, A Mark; Hancock, Thane; Cash, Haley L; Hardie, Kate; Paterson, Beverley; Paulino, Yvette; White, Paul; Merritt, Tony; Fitzgibbons, Dawn; Gopalani, Sameer Vali; Flint, James; Edwin A Merilles, Onofre; Kashiwabara, Mina; Biaukula, Viema; Lepers, Christelle; Souares, Yvan; Nilles, Eric; Batikawai, Anaseini; Huseynova, Sevil; Patel, Mahomed; Saketa, Salanieta T; Durrheim, David; Henderson, Alden; Roth, Adam

    2017-01-01

    The Pacific region has widely dispersed populations, limited financial and human resources and a high burden of disease. There is an urgent need to improve the availability, reliability and timeliness of useable health data. The purpose of this paper is to share lessons learnt from a three-year pilot field epidemiology training programme that was designed to respond to these Pacific health challenges. The pilot programme built on and further developed an existing field epidemiology training programme for Pacific health staff. The programme was delivered in country by epidemiologists working for Pacific Public Health Surveillance Network partners. The programme consisted of five courses: four one-week classroom-based courses and one field epidemiology project. Sessions were structured so that theoretical understanding was achieved through interaction and reinforced through practical hands-on group activities, case studies and other interactive practical learning methods. As of September 2016, 258 students had commenced the programme. Twenty-six course workshops were delivered and one cohort of students had completed the full five-course programme. The programme proved popular and gained a high level of student engagement. Face-to-face delivery, a low student-to-facilitator ratio, substantial group work and practical exercises were identified as key factors that contributed to the students developing skills and confidence. Close engagement of leaders and the need to quickly evaluate and adapt the curriculum were important lessons, and the collaboration between external partners was considered important for promoting a harmonized approach to health needs in the Pacific.

  6. The history of mast cell and basophil research - some lessons learnt from the last century.

    Science.gov (United States)

    Blank, U; Falcone, F H; Nilsson, G

    2013-09-01

    This year (2013) marks the 50th anniversary of death of Otto Carl Willy Prausnitz (1876-1963) and Heinz Küstner (1897-1963). The two physicians, when working at the Hygiene Institute at the University of Breslau, Germany (Prausnitz was the Head of the Institute), described in 1921 what is still called today the Prausnitz-Küstner or PK reaction showing that allergy could be transferred from the allergic person by transferring serum to a healthy person. Their discovery ended the belief that an anaphylactic/allergic reaction was caused by poisons, but to the contrary showed that the presence of the hypersensitivity factor could be transferred to other people. We know now that this factor is immunoglobulin E (IgE), sensitizing mast cells and basophils to respond to an allergic stimulus. We take this occasion to retrace some of the important discoveries and lessons learnt from the last century relating to the function of these two cell types as effectors of the IgE system and the mediators they produce. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. National planning guidelines for environment ally sustainable development in Scotland and lessons learnt for Pakistan

    International Nuclear Information System (INIS)

    Qamar-ul-Islam; Anjum, G.A.; Shahzad, M.

    2005-01-01

    This piece of research work reflects the researcher's academic as well as the practical experiences of Scottish planning about the concept, issues and policy formulations. It is in the context of National Planning Policy Guidelines, originated in Scotland with particular reference to it's Fife Region. The first part reflects the general overview of Scotland followed by brief description of the region. Another part deals with the existing strategic issues in the region which are related to land and the environment notably rural planning priorities, agricultural scarce land, conservation of recreational and tourist areas, forest land potentials, landscape resources, national scenic areas, petro-chemical, industrial zones, river pollution and future land use for housing. This study has suggested National Planning Policy Guidelines to these issues. Last section deals with the lessons learnt from Scotland and appropriate application of these guidelines in case of Pakistan. The establishment of the relevant National Planning Guidelines according to our local environmental and socio-economic conditions can also play a significant role to safe guard our rural and urban landscapes and their respective environments. These broad guidelines must therefore be recommended in the broader spectrum in spatial linkage. Moreover these guidelines must therefore synthesize and articulated specifically at structure plans, master plans at district, sub district or local plans and planning processes which can lead Pakistan towards environmentally sustainable development. (author)

  8. Recruiting Dementia Caregivers Into Clinical Trials: Lessons Learnt From the Australian TRANSCENDENT Trial.

    Science.gov (United States)

    Leach, Matthew J; Ziaian, Tahereh; Francis, Andrew; Agnew, Tamara

    2016-01-01

    The burden on those caring for a person with dementia is substantial. Although quality research assists in addressing the needs of these caregivers, recruiting caregivers into clinical studies is often problematic. This investigation explores the difficulties and successes in recruiting dementia caregivers into community-based clinical research by reporting the findings of a mixed-method substudy of a multicenter randomized controlled trial involving 40 community-dwelling dementia caregivers living in Adelaide, South Australia. Data for the substudy were derived from standardized trial monitoring documentation and structured telephone interviews. From a total of 16 distinct methods used across a 12-month recruitment campaign, the most cost-effective strategy was the distribution of flyers through a single study site. This approach generated the greatest number of enrollments of all methods used, achieving a 67% recruitment yield. The least cost-effective strategy, with a 0% recruitment yield, was the publication of a newspaper advertisement. Themes that emerged from the interviews pointed toward 5 key facilitators and 3 barriers to future trial recruitment. This study has generated new insights into the effective recruitment of dementia caregivers into clinical trials. We anticipate that these lessons learnt will assist in shaping the recruitment strategies of future studies of dementia caregivers.

  9. VVER operational safety improvements: lessons learnt from European co-operation and future research needs

    International Nuclear Information System (INIS)

    Pazdera, F.; Vasa, I.; Zd'arek, J.

    2003-01-01

    The paper summarises involvement of Nuclear Research Institute Rez (NRI) in the areas which are directly related to Reactor Operational Safety and Plant Life Management, it also gives an idea how results of the research projects can be used to enhance safety of VVER reactors. These issues are for many years subject of a wide international co-operation effort, covered by such programmes as PHARE, OECD/NEA TACIS, 5th Framework Programme. Nuclear Research Institute participated in the majority of these programmes and projects, which allowed us to evaluate benefits (especially for VVER reactors) of the projects already finalised or running, as well as to formulate so-called 'future research needs', which possibly may be pursued within 6th Framework Programme. The paper highlights the main features of some projects our Institute was and is involved in, emphasising the most important results, expectations and future needs. It also very briefly, deals with some general and particular lessons learnt within these projects and their application to VVER reactors, especially as to their safety improvement. The paper also mentions VVER-focused projects and activities, co-ordinated by the OECD, which should enable to extend multilateral contacts already existing between organisations of the EU countries to include organisations from Russia, USA, Japan and possibly some other countries

  10. Lay and peer counsellors to reduce leprosy-related stigma--lessons learnt in Cirebon, Indonesia.

    Science.gov (United States)

    Lusli, Mimi; Peters, Ruth M H; Zweekhorst, Marjolein B M; Van Brakel, Wim H; Seda, Francisia S S E; Bunders, Joske F G; Irwanto

    2015-03-01

    Counselling has been identified as a promising strategy to reduce stigma. Lay and peer counsellors have provided counselling in various fields, but this has not yet been studied in the field of leprosy. The Stigma Assessment and Reduction of Impact (SARI) project in Cirebon District, Indonesia took up this endeavour. This paper describes the initial experiences based on the perspectives of the lay and peer counsellors and aims to provide lessons learnt for future initiatives. The selection of lay and peer counsellors was based upon pre-defined criteria such as completed junior high school and level of confidence. This study draws on the notes of seven monitoring and evaluation meetings and 21 group discussions the main researcher facilitated with the lay and peer counsellors and the notes written by the lay and peer counsellors on the sessions with their clients. In total, 198 people affected by leprosy were offered counselling by the 11 lay and 12 peer counsellors; 145 accepted this offer. The other 53 either did not need counselling or did not want to participate for example due to worries about disclosure. Effective communication skills such as listening and asking effective questions were important, but also difficult to acquire for the lay and peer counsellors. Sharing personal experiences was highly appreciated by clients and stimulated a deepened reflection. Challenges related to concealment and effective skills exist, but some people affected by leprosy and others can become effective counsellors making it at the outset a challenging but nevertheless promising intervention.

  11. Simple and Easy to Perform Preimplantation Genetic Diagnosis for β-thalassemia Major Using Combination of Conventional and Fluorescent Polymerase Chain Reaction

    Directory of Open Access Journals (Sweden)

    Rasoul Salehi

    2017-01-01

    Full Text Available Background: Thalassemias are the most common monogenic disorders in many countries throughout the world. The best practice to control the prevalence of the disease is prenatal diagnosis (PND services. Extensive practicing of PND proved effective in reducing new cases but on the other side of this success high abortion rate is hided, which ethically unfair and for many couples, especially with a previous experience of a therapeutic abortion, or moral concerns, is not a suitable choice. Preimplantation genetic diagnosis (PGD is a strong alternative to conventional PND. At present PGD is the only abortion free fetal diagnostic process. Considering the fact that there are more than 6000 single gene disorders affecting approximately 1 in 300 live-births, the medical need for PGD services is significant. Materials and Methods: In the present study development of a PGD protocol for a thalassemia trait couple using nested multiplex fluorescent polymerase chain reaction (PCR for the combination of polymorphic linked short tandem repeat (STR markers and thalassemia mutations is described. Restriction fragment length polymorphism used to discriminate between wild and mutated alleles. Results: In PGD clinical cycle, paternal and maternal alleles for D11S988 and D11S1338 STR markers were segregated as it was expected. PCR product for IVSII-1 mutation was subsequently digested with BtscI restriction enzyme to differentiate normal allele from the mutant allele. The mother's mutation, being a comparatively large deletion, was detectable through size differences on agarose gel. Conclusion: The optimized single cell protocol developed and evaluated in this study is a feasible approach for preimplantation diagnosis of β-thalassemia in our patients.

  12. Lessons learnt from human papillomavirus (HPV) vaccination in 45 low- and middle-income countries

    Science.gov (United States)

    Howard, Natasha; Kabakama, Severin; Mounier-Jack, Sandra; Griffiths, Ulla K.; Feletto, Marta; Burchett, Helen E. D.; LaMontagne, D. Scott; Watson-Jones, Deborah

    2017-01-01

    Objective To synthesise lessons learnt and determinants of success from human papillomavirus (HPV) vaccine demonstration projects and national programmes in low- and middle-income countries (LAMICs). Methods Interviews were conducted with 56 key informants. A systematic literature review identified 2936 abstracts from five databases; after screening 61 full texts were included. Unpublished literature, including evaluation reports, was solicited from country representatives; 188 documents were received. A data extraction tool and interview topic guide outlining key areas of inquiry were informed by World Health Organization guidelines for new vaccine introduction. Results were synthesised thematically. Results Data were analysed from 12 national programmes and 66 demonstration projects in 46 countries. Among demonstration projects, 30 were supported by the GARDASIL® Access Program, 20 by Gavi, four by PATH and 12 by other means. School-based vaccine delivery supplemented with health facility-based delivery for out-of-school girls attained high coverage. There were limited data on facility-only strategies and little evaluation of strategies to reach out-of-school girls. Early engagement of teachers as partners in social mobilisation, consent, vaccination day coordination, follow-up of non-completers and adverse events was considered invaluable. Micro-planning using school/ facility registers most effectively enumerated target populations; other estimates proved inaccurate, leading to vaccine under- or over-estimation. Refresher training on adverse events and safe injection procedures was usually necessary. Conclusion Considerable experience in HPV vaccine delivery in LAMICs is available. Lessons are generally consistent across countries and dissemination of these could improve HPV vaccine introduction. PMID:28575074

  13. A GUIDED SWAT MODEL APPLICATION ON SEDIMENT YIELD MODELING IN PANGANI RIVER BASIN: LESSONS LEARNT

    Directory of Open Access Journals (Sweden)

    Preksedis Marco Ndomba

    2008-12-01

    Full Text Available The overall objective of this paper is to report on the lessons learnt from applying Soil and Water Assessment Tool (SWAT in a well guided sediment yield modelling study. The study area is the upstream of Pangani River Basin (PRB, the Nyumba Ya Mungu (NYM reservoir catchment, located in the North Eastern part of Tanzania. It should be noted that, previous modeling exercises in the region applied SWAT with preassumption that inter-rill or sheet erosion was the dominant erosion type. In contrast, in this study SWAT model application was guided by results of analysis of high temporal resolution of sediment flow data and hydro-meteorological data. The runoff component of the SWAT model was calibrated from six-years (i.e. 1977–1982 of historical daily streamflow data. The sediment component of the model was calibrated using one-year (1977–1988 daily sediment loads estimated from one hydrological year sampling programme (between March and November, 2005 rating curve. A long-term period over 37 years (i.e. 1969–2005 simulation results of the SWAT model was validated to downstream NYM reservoir sediment accumulation information. The SWAT model captured 56 percent of the variance (CE and underestimated the observed daily sediment loads by 0.9 percent according to Total Mass Control (TMC performance indices during a normal wet hydrological year, i.e., between November 1, 1977 and October 31, 1978, as the calibration period. SWAT model predicted satisfactorily the long-term sediment catchment yield with a relative error of 2.6 percent. Also, the model has identified erosion sources spatially and has replicated some erosion processes as determined in other studies and field observations in the PRB. This result suggests that for catchments where sheet erosion is dominant SWAT model may substitute the sediment-rating curve. However, the SWAT model could not capture the dynamics of sediment load delivery in some seasons to the catchment outlet.

  14. A GUIDED SWAT MODEL APPLICATION ON SEDIMENT YIELD MODELING IN PANGANI RIVER BASIN: LESSONS LEARNT

    Directory of Open Access Journals (Sweden)

    Preksedis M. Ndomba

    2008-01-01

    Full Text Available The overall objective of this paper is to report on the lessons learnt from applying Soil and Water Assessment Tool (SWAT in a well guided sediment yield modelling study. The study area is the upstream of Pangani River Basin (PRB, the Nyumba Ya Mungu (NYM reservoir catchment, located in the North Eastern part of Tanzania. It should be noted that, previous modeling exercises in the region applied SWAT with preassumption that inter-rill or sheet erosion was the dominant erosion type. In contrast, in this study SWAT model application was guided by results of analysis of high temporal resolution of sediment flow data and hydro-meteorological data. The runoff component of the SWAT model was calibrated from six-years (i.e. 1977¿1982 of historical daily streamflow data. The sediment component of the model was calibrated using one-year (1977-1988 daily sediment loads estimated from one hydrological year sampling programme (between March and November, 2005 rating curve. A long-term period over 37 years (i.e. 1969-2005 simulation results of the SWAT model was validated to downstream NYM reservoir sediment accumulation information. The SWAT model captured 56 percent of the variance (CE and underestimated the observed daily sediment loads by 0.9 percent according to Total Mass Control (TMC performance indices during a normal wet hydrological year, i.e., between November 1, 1977 and October 31, 1978, as the calibration period. SWAT model predicted satisfactorily the long-term sediment catchment yield with a relative error of 2.6 percent. Also, the model has identified erosion sources spatially and has replicated some erosion processes as determined in other studies and field observations in the PRB. This result suggests that for catchments where sheet erosion is dominant SWAT model may substitute the sediment-rating curve. However, the SWAT model could not capture the dynamics of sediment load delivery in some seasons to the catchment outlet.

  15. Lessons learnt from a three-year pilot field epidemiology training programme

    Directory of Open Access Journals (Sweden)

    Damian Hoy

    2017-09-01

    Full Text Available Problem: The Pacific region has widely dispersed populations, limited financial and human resources and a high burden of disease. There is an urgent need to improve the availability, reliability and timeliness of useable health data. Context: The purpose of this paper is to share lessons learnt from a three-year pilot field epidemiology training programme that was designed to respond to these Pacific health challenges. The pilot programme built on and further developed an existing field epidemiology training programme for Pacific health staff. Action: The programme was delivered in country by epidemiologists working for Pacific Public Health Surveillance Network partners. The programme consisted of five courses: four one-week classroom-based courses and one field epidemiology project. Sessions were structured so that theoretical understanding was achieved through interaction and reinforced through practical hands-on group activities, case studies and other interactive practical learning methods. Outcome: As of September 2016, 258 students had commenced the programme. Twenty-six course workshops were delivered and one cohort of students had completed the full five-course programme. The programme proved popular and gained a high level of student engagement. Discussion: Face-to-face delivery, a low student-to-facilitator ratio, substantial group work and practical exercises were identified as key factors that contributed to the students developing skills and confidence. Close engagement of leaders and the need to quickly evaluate and adapt the curriculum were important lessons, and the collaboration between external partners was considered important for promoting a harmonized approach to health needs in the Pacific.

  16. Bone marrow transplantation from genetically HLA-nonidentical donors in children with fatal inherited disorders excluding severe combined immunodeficiencies: use of two monoclonal antibodies to prevent graft rejection.

    Science.gov (United States)

    Jabado, N; Le Deist, F; Cant, A; De Graeff-Meeders, E R; Fasth, A; Morgan, G; Vellodi, A; Hale, G; Bujan, W; Thomas, C; Cavazzana-Calvo, M; Wijdenes, J; Fischer, A

    1996-09-01

    For children with life-threatening inborn errors of metabolism without a matched related bone marrow donor, transplantation from an HLA genetically nonidentical donor is the only therapeutic option. To reduce the high risk of graft rejection in this setting without increasing the conditioning regimen, a protocol based on the infusion of an antiadhesion antibody directed against the CD11a (leukocyte function-associated antigen 1 [LFA-1]) molecule was performed by the European Bone Marrow Transplantation-European Society for Immunodeficiency group with promising results. To optimize engraftment, and thereby survival, further, the additional blockade of a second important leukocyte adhesion and signalization pathway mediated by the CD2 and LFA-3 interaction was attempted in a multicenter protocol conducted by the European Bone Marrow Transplantation-European Society for Immunodeficiency group. Results of this study (ie, engraftment and survival) were compared with a historical control group that received the anti-LFA-1 antibody alone. Factors that may have affected engraftment and survival were also considered in this study. Forty-four children with inborn errors, including inherited immunodeficiencies (excluding severe combined immunodeficiencies), Chédiak-Higashi syndrome, familial hemophagocytic lymphohistiocytosis, and malignant osteopetrosis, received bone marrow from HLA-nonidentical related donors or from HLA-identical unrelated donors at 13 European centers between August 1990 and June 1993. Bone marrow was depleted of T cells by use of either erythrocyte (E) rosetting or monoclonal antibodies (MoAbs) to prevent graft-versus-host disease. The conditioning regimen consisted of busulfan and cyclophosphamide for all patients plus etoposide for patients with osteopetrosis, familial hemophagocytic lymphohistiocytosis, and Chédiak-Higashi syndrome. Infusions of MoAbs specific for the CD11a and the CD2 molecules were started 4 and 3 days, respectively, before and

  17. Present, past and future of the European rock fern Asplenium fontanum: combining distribution modelling and population genetics to study the effect of climate change on geographic range and genetic diversity.

    Science.gov (United States)

    Bystriakova, Nadia; Ansell, Stephen W; Russell, Stephen J; Grundmann, Michael; Vogel, Johannes C; Schneider, Harald

    2014-02-01

    Climate change is expected to alter the geographic range of many plant species dramatically. Predicting this response will be critical to managing the conservation of plant resources and the effects of invasive species. The aim of this study was to predict the response of temperate homosporous ferns to climate change. Genetic diversity and changes in distribution range were inferred for the diploid rock fern Asplenium fontanum along a South-North transect, extending from its putative last glacial maximum (LGM) refugia in southern France towards southern Germany and eastern-central France. This study reconciles observations from distribution models and phylogeographic analyses derived from plastid and nuclear diversity. Genetic diversity distribution and niche modelling propose that genetic diversity accumulates in the LGM climate refugium in southern France with the formation of a diversity gradient reflecting a slow, post-LGM range expansion towards the current distribution range. Evidence supports the fern's preference for outcrossing, contradicting the expectation that homosporous ferns would populate new sites by single-spore colonization. Prediction of climate and distribution range change suggests that a dramatic loss of range and genetic diversity in this fern is possible. The observed migration is best described by the phalanx expansion model. The results suggest that homosporous ferns reproducing preferentially by outcrossing accumulate genetic diversity primarily in LGM climate refugia and may be threatened if these areas disappear due to global climate change.

  18. Island biology and morphological divergence of the Skyros wall lizard Podarcis gaigeae: a combined role for local selection and genetic drift on color morph frequency divergence?

    Directory of Open Access Journals (Sweden)

    Runemark Anna

    2010-09-01

    Full Text Available Abstract Background Patterns of spatial variation in discrete phenotypic traits can be used to draw inferences about the adaptive significance of traits and evolutionary processes, especially when compared to patterns of neutral genetic variation. Population divergence in adaptive traits such as color morphs can be influenced by both local ecology and stochastic factors such as genetic drift or founder events. Here, we use quantitative color measurements of males and females of Skyros wall lizard, Podarcis gaigeae, to demonstrate that this species is polymorphic with respect to throat color, and the morphs form discrete phenotypic clusters with limited overlap between categories. We use divergence in throat color morph frequencies and compare that to neutral genetic variation to infer the evolutionary processes acting on islet- and mainland populations. Results Geographically close islet- and mainland populations of the Skyros wall lizard exhibit strong divergence in throat color morph frequencies. Population variation in throat color morph frequencies between islets was higher than that between mainland populations, and the effective population sizes on the islets were small (Ne:s ST for throat color morph frequencies fell within the neutral FST-distribution estimated from microsatellite markers, and genetic drift could thus not be rejected as an explanation for the pattern. Moreover, for both comparisons among mainland-mainland population pairs and between mainland-islet population pairs, morph frequency divergence was significantly correlated with neutral divergence, further pointing to some role for genetic drift in divergence also at the phenotypic level of throat color morphs. Conclusions Genetic drift could not be rejected as an explanation for the pattern of population divergence in morph frequencies. In spite of an expected stabilising selection, throat color frequencies diverged in the islet populations. These results suggest that

  19. Phenotypic H-Antigen Typing by Mass Spectrometry Combined with Genetic Typing of H Antigens, O Antigens, and Toxins by Whole-Genome Sequencing Enhances Identification of Escherichia coli Isolates.

    Science.gov (United States)

    Cheng, Keding; Chui, Huixia; Domish, Larissa; Sloan, Angela; Hernandez, Drexler; McCorrister, Stuart; Robinson, Alyssia; Walker, Matthew; Peterson, Lorea A M; Majcher, Miles; Ratnam, Sam; Haldane, David J M; Bekal, Sadjia; Wylie, John; Chui, Linda; Tyler, Shaun; Xu, Bianli; Reimer, Aleisha; Nadon, Celine; Knox, J David; Wang, Gehua

    2016-08-01

    Mass spectrometry-based phenotypic H-antigen typing (MS-H) combined with whole-genome-sequencing-based genetic identification of H antigens, O antigens, and toxins (WGS-HOT) was used to type 60 clinical Escherichia coli isolates, 43 of which were previously identified as nonmotile, H type undetermined, or O rough by serotyping or having shown discordant MS-H and serotyping results. Whole-genome sequencing confirmed that MS-H was able to provide more accurate data regarding H antigen expression than serotyping. Further, enhanced and more confident O antigen identification resulted from gene cluster based typing in combination with conventional typing based on the gene pair comprising wzx and wzy and that comprising wzm and wzt The O antigen was identified in 94.6% of the isolates when the two genetic O typing approaches (gene pair and gene cluster) were used in conjunction, in comparison to 78.6% when the gene pair database was used alone. In addition, 98.2% of the isolates showed the existence of genes for various toxins and/or virulence factors, among which verotoxins (Shiga toxin 1 and/or Shiga toxin 2) were 100% concordant with conventional PCR based testing results. With more applications of mass spectrometry and whole-genome sequencing in clinical microbiology laboratories, this combined phenotypic and genetic typing platform (MS-H plus WGS-HOT) should be ideal for pathogenic E. coli typing. Copyright © 2016 Cheng et al.

  20. Methods used and lessons learnt in conducting document reviews of medical and allied health curricula - a key step in curriculum evaluation.

    Science.gov (United States)

    Rohwer, Anke; Schoonees, Anel; Young, Taryn

    2014-11-02

    This paper describes the process, our experience and the lessons learnt in doing document reviews of health science curricula. Since we could not find relevant literature to guide us on how to approach these reviews, we feel that sharing our experience would benefit researchers embarking on similar projects. We followed a rigorous, transparent, pre-specified approach that included the preparation of a protocol, a pre-piloted data extraction form and coding schedule. Data were extracted, analysed and synthesised. Quality checks were included at all stages of the process. The main lessons we learnt related to time and project management, continuous quality assurance, selecting the software that meets the needs of the project, involving experts as needed and disseminating the findings to relevant stakeholders. A complete curriculum evaluation comprises, apart from a document review, interviews with students and lecturers to assess the learnt and taught curricula respectively. Rigorous methods must be used to ensure an objective assessment.

  1. Internet of Things Platform for Smart Farming: Experiences and Lessons Learnt.

    Science.gov (United States)

    Jayaraman, Prem Prakash; Yavari, Ali; Georgakopoulos, Dimitrios; Morshed, Ahsan; Zaslavsky, Arkady

    2016-11-09

    crop recommendations for any particular farm. SmartFarmNet can integrate virtually any IoT device, including commercially available sensors, cameras, weather stations, etc., and store their data in the cloud for performance analysis and recommendations. An evaluation of the SmartFarmNet platform and our experiences and lessons learnt in developing this system concludes the paper. SmartFarmNet is the first and currently largest system in the world (in terms of the number of sensors attached, crops assessed, and users it supports) that provides crop performance analysis and recommendations.

  2. Internet of Things Platform for Smart Farming: Experiences and Lessons Learnt

    Directory of Open Access Journals (Sweden)

    Prem Prakash Jayaraman

    2016-11-01

    and personalised crop recommendations for any particular farm. SmartFarmNet can integrate virtually any IoT device, including commercially available sensors, cameras, weather stations, etc., and store their data in the cloud for performance analysis and recommendations. An evaluation of the SmartFarmNet platform and our experiences and lessons learnt in developing this system concludes the paper. SmartFarmNet is the first and currently largest system in the world (in terms of the number of sensors attached, crops assessed, and users it supports that provides crop performance analysis and recommendations.

  3. The Fukushima Daiichi Nuclear Power Plant Accident: OECD/NEA Nuclear Safety Response and Lessons Learnt

    International Nuclear Information System (INIS)

    2013-01-01

    research programmes designed to improve understanding of how the accident progressed as well as to obtain safety-related information during the decommissioning and dismantling of the damaged facilities. This report outlines international efforts to strengthen nuclear regulation, safety, research and radiological protection in the post-Fukushima context. It also highlights key messages and lessons learnt, notably as related to assurance of safety, shared responsibilities, human and organisational factors, defence-in-depth, stakeholder engagement, crisis communication and emergency preparedness

  4. Developing children’s palliative care in Africa through beacon centres: lessons learnt

    Science.gov (United States)

    2013-01-01

    Much progress has been made in the provision of palliative care across sub-Saharan Africa, however much still remains to be done, particularly in the area of children’s palliative care (CPC). The Beacon Centres programme was set up in 2009, aimed at improving access to CPC in South Africa, Uganda and Tanzania through more and better-trained health professionals and CPC clinical services of a high standard. Having identified sites in each country to develop into CPC Beacon Centres, Navigators were identified who would be the ‘champions’ for CPC in those sites and lead a programme of training, mentorship and support. Five navigators (2 in Uganda and Tanzania and 1 in South Africa) were trained between September and December 2009. Following this they undertook CPC needs assessments at the 3 centres and set up and delivered a six-month CPC training programme, providing mentorship and support to students to enable them to integrate CPC into their workplaces. To date, 188 participants have commenced the six-month course, with 80 having completed it. CPC has been integrated into the activities of the centres and a CPC virtual resource centre set up in South Africa. The achievements from the Beacon project have been great and the work of the navigators immense, but as in all projects it has not been without its challenges. Lessons learnt include issues around: the focus of the project; the length and nature of the training; assessment; accreditation; the choice of navigators; mentoring; administrative support; co-ordination; the choice of project sites; and the integration of CPC into services. The need for CPC is not going to go away and it is therefore important that models of scaling-up are found that are not only practical, feasible, affordable and sustainable, but that focus on the outcome of improved CPC for all those who need it. It is hoped that the lessons shared from the Beacon Project will help in developing and implementing such models. PMID:23419095

  5. Lessons learnt form PSAS for new and advanced reactors in Russia

    International Nuclear Information System (INIS)

    Morozov, V.; Tokmachev, G.

    2012-01-01

    'best estimate' approach recommended by regulatory guides. Fourthly, the PSA development for advanced NPPs has raised some issues originated from unknown new components, processes and technologies incorporated into the design of an advanced plant. This is a challenge to PSA developers. The paper addresses some issues resolved while carrying out PSAs for advanced NPPs. They include the reliability estimation for new components, long-term mission time modeling, assessment of defense against common cause failures, software reliability treatment, etc. Finally, some PSA results for new advanced VVER plants under construction and the first lessons learnt from the Fukushima accident are discussed. (authors)

  6. Genetical Genomics for Evolutionary Studies

    NARCIS (Netherlands)

    Prins, J.C.P.; Smant, G.; Jansen, R.C.

    2012-01-01

    Genetical genomics combines acquired high-throughput genomic data with genetic analysis. In this chapter, we discuss the application of genetical genomics for evolutionary studies, where new high-throughput molecular technologies are combined with mapping quantitative trait loci (QTL) on the genome

  7. Combination of RNAseq and SNP nanofluidic array reveals the center of genetic diversity of cacao pathogen Moniliophthora roreri in the upper Magdalena Valley of Colombia and its clonality

    Science.gov (United States)

    Moniliophthora roreri is the fungal pathogen that causes frosty pod rot (FPR) disease of Theobroma cacao L., the source of chocolate. FPR occurs in most of the cacao producing countries in the Western Hemisphere, causing yield losses up to 80%. Genetic diversity within the FPR pathogen population ma...

  8. Combined use of mark-recapture and genetic analyses reveals response of a black bear population to changes in food productivity

    Science.gov (United States)

    Barbara S. McCall; Michael S. Mitchell; Michael K. Schwartz; Jim Hayden; Samuel A. Cushman; Pete Zager; Wayne F. Kasworm

    2013-01-01

    We used mark-recapture analysis to investigate the dynamics of a black bear (Ursus americanus) population in northern Idaho where food availability varies seasonally and annually. We conducted noninvasive genetic sampling (NGS) during 2003-2006 in the Purcell Mountains of Idaho to collect black bear DNA samples for individual identification of bears. We used a...

  9. Combination of RNAseq and SNP nanofluidic array reveals the center of genetic diversity of cacao pathogen Moniliophthora roreri in the upper Magdalena Valley of Colombia and its clonality

    Directory of Open Access Journals (Sweden)

    Shahin S Ali

    2015-08-01

    Full Text Available Moniliophthora roreri is the fungal pathogen that causes frosty pod rot (FPR disease of Theobroma cacao L., the source of chocolate. FPR occurs in most of the cacao producing countries in the Western Hemisphere, causing yield losses up to 80%. Genetic diversity within the FPR pathogen population may allow the population to adapt to changing environmental conditions and adapt to enhanced resistance in the host plant. The present study developed SNP markers from RNASeq results for 13 M. roreri isolates and validated the markers for their ability to reveal genetic diversity in an international M. roreri collection. The SNP resources reported herein represent the first study of RNASeq-derived SNP validation in M. roreri and demonstrates the utility of RNASeq as an approach for de novo SNP identification in M. roreri. A total of 88 polymorphic SNPs were used to evaluate the genetic diversity of 172 M. roreri cacao isolates resulting in 37 distinct genotypes (including 14 synonymous groups. Absence of heterozygosity for the 88 SNP markers indicates reproduction in M. roreri is clonal and likely due to a homothallic life style. The upper Magdalena Valley of Colombia showed the highest levels of genetic diversity with 20 distinct genotypes of which 13 were limited to this region, and indicates this region as the possible center of origin for M. roreri.

  10. Combination of RNAseq and SNP nanofluidic array reveals the center of genetic diversity of cacao pathogen Moniliophthora roreri in the upper Magdalena Valley of Colombia and its clonality.

    Science.gov (United States)

    Ali, Shahin S; Shao, Jonathan; Strem, Mary D; Phillips-Mora, Wilberth; Zhang, Dapeng; Meinhardt, Lyndel W; Bailey, Bryan A

    2015-01-01

    Moniliophthora roreri is the fungal pathogen that causes frosty pod rot (FPR) disease of Theobroma cacao L., the source of chocolate. FPR occurs in most of the cacao producing countries in the Western Hemisphere, causing yield losses up to 80%. Genetic diversity within the FPR pathogen population may allow the population to adapt to changing environmental conditions and adapt to enhanced resistance in the host plant. The present study developed single nucleotide polymorphism (SNP) markers from RNASeq results for 13 M. roreri isolates and validated the markers for their ability to reveal genetic diversity in an international M. roreri collection. The SNP resources reported herein represent the first study of RNA sequencing (RNASeq)-derived SNP validation in M. roreri and demonstrates the utility of RNASeq as an approach for de novo SNP identification in M. roreri. A total of 88 polymorphic SNPs were used to evaluate the genetic diversity of 172 M. roreri cacao isolates resulting in 37 distinct genotypes (including 14 synonymous groups). Absence of heterozygosity for the 88 SNP markers indicates reproduction in M. roreri is clonal and likely due to a homothallic life style. The upper Magdalena Valley of Colombia showed the highest levels of genetic diversity with 20 distinct genotypes of which 13 were limited to this region, and indicates this region as the possible center of origin for M. roreri.

  11. Mapping infectious disease hospital surge threats to lessons learnt in Singapore: a systems analysis and development of a framework to inform how to DECIDE on planning and response strategies.

    Science.gov (United States)

    Singh, Shweta R; Coker, Richard; Vrijhoef, Hubertus J-M; Leo, Yee Sin; Chow, Angela; Lim, Poh Lian; Tan, Qinghui; Chen, Mark I-Cheng; Hildon, Zoe Jane-Lara

    2017-09-04

    Hospital usage and service demand during an Infectious Disease (ID) outbreak can tax the health system in different ways. Herein we conceptualize hospital surge elements, and lessons learnt from such events, to help build appropriately matched responses to future ID surge threats. We used the Interpretive Descriptive qualitative approach. Interviews (n = 35) were conducted with governance and public health specialists; hospital based staff; and General Practitioners. Key policy literature in tandem with the interview data were used to iteratively generate a Hospital ID Surge framework. We anchored our narrative account within this framework, which is used to structure our analysis. A spectrum of surge threats from combinations of capacity (for crowding) and capability (for treatment complexity) demands were identified. Starting with the Pyramid scenario, or an influx of high screening rates flooding Emergency Departments, alongside fewer and manageable admissions; the Reverse-Pyramid occurs when few cases are screened and admitted but those that are, are complex; during a 'Black' scenario, the system is overburdened by both crowding and complexity. The Singapore hospital system is highly adapted to crowding, functioning remarkably well at constant near-full capacity in Peacetime and resilient to Endemic surges. We catalogue 26 strategies from lessons learnt relating to staffing, space, supplies and systems, crystalizing institutional memory. The DECIDE model advocates linking these strategies to types of surge threats and offers a step-by-step guide for coordinating outbreak planning and response. Lack of a shared definition and decision making of surge threats had rendered the procedures somewhat duplicative. This burden was paradoxically exacerbated by a health system that highly prizes planning and forward thinking, but worked largely in silo until an ID crisis hit. Many such lessons can be put into play to further strengthen our current hospital governance

  12. Single-gene testing combined with single nucleotide polymorphism microarray preimplantation genetic diagnosis for aneuploidy: a novel approach in optimizing pregnancy outcome.

    Science.gov (United States)

    Brezina, Paul R; Benner, Andrew; Rechitsky, Svetlana; Kuliev, Anver; Pomerantseva, Ekaterina; Pauling, Dana; Kearns, William G

    2011-04-01

    To describe a method of amplifying DNA from blastocyst trophectoderm cells (two or three cells) and simultaneously performing 23-chromosome single nucleotide polymorphism microarrays and single-gene preimplantation genetic diagnosis. Case report. IVF clinic and preimplantation genetic diagnostic centers. A 36-year-old woman, gravida 2, para 1011, and her husband who both were carriers of GM(1) gangliosidosis. The couple wished to proceed with microarray analysis for aneuploidy detection coupled with DNA sequencing for GM(1) gangliosidosis. An IVF cycle was performed. Ten blastocyst-stage embryos underwent trophectoderm biopsy. Twenty-three-chromosome microarray analysis for aneuploidy and specific DNA sequencing for GM(1) gangliosidosis mutations were performed. Viable pregnancy. After testing, elective single embryo transfer was performed followed by an intrauterine pregnancy with documented fetal cardiac activity by ultrasound. Twenty-three-chromosome microarray analysis for aneuploidy detection and single-gene evaluation via specific DNA sequencing and linkage analysis are used for preimplantation diagnosis for single-gene disorders and aneuploidy. Because of the minimal amount of genetic material obtained from the day 3 to 5 embryos (up to 6 pg), these modalities have been used in isolation of each other. The use of preimplantation genetic diagnosis for aneuploidy coupled with testing for single-gene disorders via trophectoderm biopsy is a novel approach to maximize pregnancy outcomes. Although further investigation is warranted, preimplantation genetic diagnosis for aneuploidy and single-gene testing seem destined to be used increasingly to optimize ultimate pregnancy success. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  13. The combined influence of genetic factors and sedentary activity on body mass changes from adolescence to young adulthood: the National Longitudinal Adolescent Health Study.

    Science.gov (United States)

    Graff, M; North, K E; Monda, K L; Lange, E M; Lange, L A; Guo, G; Gordon-Larsen, P

    2011-01-01

    an increase in sedentary activities is likely a major contributor to the rise in obesity over the last three decades. Little research has examined interactions between genetic variants and sedentary activity on obesity phenotypes. High levels of sedentary activity during adolescence may interact with genetic factors to influence body mass changes between adolescence and young adulthood, a high risk period for weight gain. in the National Longitudinal Study of Adolescent Health, siblings and twin pairs (16.5 ± 1.7 years) were followed into young adulthood (22.4 ± 1.8 years). Self-reported screen time (TV, video, and computer use in h/week) and body mass index (kg/m(2) ), calculated from measured height and weight at adolescence and at young adulthood, were available for 3795 participants. We employed a variance component approach to estimate the interaction between genotype and screen time for body mass changes. Additive genotype-by-screen time interactions were assessed using likelihood-ratio tests. Models were adjusted for race, age, sex, and age-by-sex interaction. the genetic variation in body mass changes was significantly larger in individuals with low ( δ(G) = 27.59 ± 1.58) compared with high (δ(G) = 18.76 ± 2.59) levels of screen time (p adolescence. Our findings demonstrate that sedentary activities during adolescence may interact with genetic factors to influence body mass changes between adolescence and young adulthood. Accounting for obesity-related behaviours may improve current understanding of the genetic variation in body mass changes. 2010 John Wiley & Sons, Ltd.

  14. Lessons learnt from past Flash Floods and Debris Flow events to propose future strategies on risk management

    Science.gov (United States)

    Cabello, Angels; Velasco, Marc; Escaler, Isabel

    2010-05-01

    Floods, including flash floods and debris flow events, are one of the most important hazards in Europe regarding both economic and life loss. Moreover, changes in precipitation patterns and intensity are very likely to increase due to the observed and predicted global warming, rising the risk in areas that are already vulnerable to floods. Therefore, it is very important to carry out new strategies to improve flood protection, but it is also crucial to take into account historical data to identify high risk areas. The main objective of this paper is to show a comparative analysis of the flood risk management information compiled in four test-bed basins (Llobregat, Guadalhorce, Gardon d'Anduze and Linth basins) from three different European countries (Spain, France and Switzerland) and to identify which are the lessons learnt from their past experiences in order to propose future strategies on risk management. This work is part of the EU 7th FP project IMPRINTS which aims at reducing loss of life and economic damage through the improvement of the preparedness and the operational risk management of flash flood and debris flow (FF & DF) events. The methodology followed includes the following steps: o Specific survey on the effectivity of the implemented emergency plans and risk management procedures sent to the test-bed basin authorities that participate in the project o Analysis of the answers from the questionnaire and further research on their methodologies for risk evaluation o Compilation of available follow-up studies carried out after major flood events in the four test-bed basins analyzed o Collection of the lessons learnt through a comparative analysis of the previous information o Recommendations for future strategies on risk management based on lessons learnt and management gaps detected through the process As the Floods Directive (FD) already states, the flood risks associated to FF & DF events should be assessed through the elaboration of Flood Risk

  15. Patience, persistence and pragmatism: experiences and lessons learnt from the implementation of clinically integrated teaching and learning of evidence-based health care - a qualitative study.

    Directory of Open Access Journals (Sweden)

    Taryn Young

    Full Text Available Clinically integrated teaching and learning are regarded as the best options for improving evidence-based healthcare (EBHC knowledge, skills and attitudes. To inform implementation of such strategies, we assessed experiences and opinions on lessons learnt of those involved in such programmes.We conducted semi-structured interviews with 24 EBHC programme coordinators from around the world, selected through purposive sampling. Following data transcription, a multidisciplinary group of investigators carried out analysis and data interpretation, using thematic content analysis. Successful implementation of clinically integrated teaching and learning of EBHC takes much time. Student learning needs to start in pre-clinical years with consolidation, application and assessment following in clinical years. Learning is supported through partnerships between various types of staff including the core EBHC team, clinical lecturers and clinicians working in the clinical setting. While full integration of EBHC learning into all clinical rotations is considered necessary, this was not always achieved. Critical success factors were pragmatism and readiness to use opportunities for engagement and including EBHC learning in the curriculum; patience; and a critical mass of the right teachers who have EBHC knowledge and skills and are confident in facilitating learning. Role modelling of EBHC within the clinical setting emerged as an important facilitator. The institutional context exerts an important influence; with faculty buy-in, endorsement by institutional leaders, and an EBHC-friendly culture, together with a supportive community of practice, all acting as key enablers. The most common challenges identified were lack of teaching time within the clinical curriculum, misconceptions about EBHC, resistance of staff, lack of confidence of tutors, lack of time, and negative role modelling.Implementing clinically integrated EBHC curricula requires institutional

  16. Patience, Persistence and Pragmatism: Experiences and Lessons Learnt from the Implementation of Clinically Integrated Teaching and Learning of Evidence-Based Health Care – A Qualitative Study

    Science.gov (United States)

    Young, Taryn; Rohwer, Anke; van Schalkwyk, Susan; Volmink, Jimmy; Clarke, Mike

    2015-01-01

    Background Clinically integrated teaching and learning are regarded as the best options for improving evidence-based healthcare (EBHC) knowledge, skills and attitudes. To inform implementation of such strategies, we assessed experiences and opinions on lessons learnt of those involved in such programmes. Methods and Findings We conducted semi-structured interviews with 24 EBHC programme coordinators from around the world, selected through purposive sampling. Following data transcription, a multidisciplinary group of investigators carried out analysis and data interpretation, using thematic content analysis. Successful implementation of clinically integrated teaching and learning of EBHC takes much time. Student learning needs to start in pre-clinical years with consolidation, application and assessment following in clinical years. Learning is supported through partnerships between various types of staff including the core EBHC team, clinical lecturers and clinicians working in the clinical setting. While full integration of EBHC learning into all clinical rotations is considered necessary, this was not always achieved. Critical success factors were pragmatism and readiness to use opportunities for engagement and including EBHC learning in the curriculum; patience; and a critical mass of the right teachers who have EBHC knowledge and skills and are confident in facilitating learning. Role modelling of EBHC within the clinical setting emerged as an important facilitator. The institutional context exerts an important influence; with faculty buy-in, endorsement by institutional leaders, and an EBHC-friendly culture, together with a supportive community of practice, all acting as key enablers. The most common challenges identified were lack of teaching time within the clinical curriculum, misconceptions about EBHC, resistance of staff, lack of confidence of tutors, lack of time, and negative role modelling. Conclusions Implementing clinically integrated EBHC curricula

  17. Genetic modification of haematopoietic cells for combined resistance to podophyllotoxins, other agents covered by MDR1-mediated efflux activity and nitrosoureas.

    Science.gov (United States)

    Baum, C; Peinert, S; Carpinteiro, A; Eckert, H G; Fairbairn, L J

    2000-05-01

    Genetic transfer and expression of drug-resistance functions into haematopoietic stem and progenitor cells is a promising means to overcome both the acute and longterm side-effects of cytotoxic drugs in bone marrow. Here, we describe a functional analysis of a retroviral vector that co-expresses human cDNAs for multidrug resistance 1/P-glycoprotein (MDR1) and a double mutant of O(6)-alkylguanine-alkyltransferase (hATPA/GA) to high levels. The hATPA/GA protein contains two amino acid substitutions that render it resistant to compounds such as O(6)-benzylguanine that inhibit the wild-type protein which is often overexpressed in resistant tumour cells. Evidence for simultaneous drug resistance of genetically modified primary murine progenitor cells to colchicine or the podophyllotoxin etoposide, both covered by MDR1-mediated efflux activity, and the nitrosourea BCNU, which is counteracted by hATPA/GA, is presented using in vitro colony assays.

  18. Combination of RNAseq and SNP nanofluidic array reveals the center of genetic diversity of cacao pathogen Moniliophthora roreri in the upper Magdalena Valley of Colombia and its clonality

    OpenAIRE

    Ali, Shahin S.; Shao, Jonathan; Strem, Mary D.; Phillips-Mora, Wilberth; Zhang, Dapeng; Meinhardt, Lyndel W.; Bailey, Bryan A.

    2015-01-01

    Moniliophthora roreri is the fungal pathogen that causes frosty pod rot (FPR) disease of Theobroma cacao L., the source of chocolate. FPR occurs in most of the cacao producing countries in the Western Hemisphere, causing yield losses up to 80%. Genetic diversity within the FPR pathogen population may allow the population to adapt to changing environmental conditions and adapt to enhanced resistance in the host plant. The present study developed single nucleotide polymorphism (SNP) markers fro...

  19. Melanoma genetics

    DEFF Research Database (Denmark)

    Read, Jazlyn; Wadt, Karin A W; Hayward, Nicholas K

    2015-01-01

    Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence of herita......Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence...... in a combined total of approximately 50% of familial melanoma cases, the underlying genetic basis is unexplained for the remainder of high-density melanoma families. Aside from the possibility of extremely rare mutations in a few additional high penetrance genes yet to be discovered, this suggests a likely...... polygenic component to susceptibility, and a unique level of personal melanoma risk influenced by multiple low-risk alleles and genetic modifiers. In addition to conferring a risk of cutaneous melanoma, some 'melanoma' predisposition genes have been linked to other cancers, with cancer clustering observed...

  20. Teachers' Social Capital as a Resource for Curriculum Development: Lessons Learnt in the Implementation of a Child-Friendly Schools Programme

    Science.gov (United States)

    Modipane, Mpho; Themane, Mahlapahlapana

    2014-01-01

    This paper reports on lessons learnt in the use of teachers' social capital as a resource for curriculum development, in the implementation of the Child-Friendly Schools (CFS) programme in South Africa. The researchers in this study were amongst the trainers. The study followed a qualitative research approach, where a descriptive research design…

  1. Importance of rodents for hydrology: lessons learnt from various field experiments

    Science.gov (United States)

    van Schaik, Loes; Zangerlé, Anne; Schneider, Anne-Kathrin; Schröder, Boris; Eccard, Jana

    2017-04-01

    organisms are known to create soil macropores of different sizes and with varying extent and orientation: most commonly earthworms, rodents, moles and roots. Preferential flow through macropore networks is dynamic and typically occurs when short individual macropores become connected at the hillslope scale as the nodes between the macropores become wet. Large lateral macropores may contribute to rapid subsurface stormflow of water and solutes at hillslope scale and supply a significant part of the catchment scale discharge during high intensity rainfall events even under relatively dry catchment state. Outflow from soil pipes, especially in the valley bottom or along the banking near to streams, is frequently observed, however, it remains a challenge to measure the spatial distribution, extent and connectivity of macropores at hill slope scales. We hypothesize that local information on organism abundances may be used as an indicator for spatial variability in infiltration, water storage and fluxes at the small scale and that knowledge on the landscape scale spatial distribution of organisms can provide information on connectivity of macropores at hillslope scale. Here we summarize the lessons learnt during three years of measurements aimed at determining the influence of rodent burrows on soil hydrology in a meso-scale catchment. Within the Attert Catchment (297 km2) in Luxembourg we performed sprinkling experiments with a brilliant blue tracer on twelve plots, of which six directly above rodent burrow openings and six on a surface without a rodent burrow opening, in order to examine the influence of the burrow openings on the infiltration pattern. Then we tested the extent of flow through mice burrows in different forest types, with varying geology and slope, by supplying 5 Liters of water with brilliant blue tracer directly to 24 burrow openings at soil surface. We excavated the burrows to measure how far the water was transported laterally in the burrow. Though

  2. Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

    OpenAIRE

    de la Hoya, Miguel; Soukarieh, Omar; L��pez-Perolio, Irene; Vega, Ana; Walker, Logan C.; van Ierland, Yvette; Baralle, Diana; Santamari��a, Marta; Lattimore, Vanessa; Wijnen, Juul; Whiley, Philip; Blanco, Ana; Raponi, Michela; Hauke, Jan; Wappenschmidt, Barbara

    2016-01-01

    A recent analysis using family history weighting and co-observation classification modeling indicated that BRCA1 c.594-2A > C (IVS9-2A > C), previously described to cause exon 10 skipping (a truncating alteration), displays characteristics inconsistent with those of a high risk pathogenic BRCA1 variant. We used large-scale genetic and clinical resources from the ENIGMA, CIMBA and BCAC consortia to assess pathogenicity of c.594-2A > C. The combined odds for causality considering case-control, ...

  3. You Can't Unscramble an Egg: Population Genetic Structure of Oncorhynchus mykiss in the California Central Valley Inferred from Combined Microsatellite and Single Nucleotide Polymorphism Data

    Directory of Open Access Journals (Sweden)

    Devon E. Pearse

    2015-12-01

    Full Text Available doi: http://dx.doi.org/10.15447/sfews.2015v13iss4art3Steelhead/rainbow trout (Oncorhynchus mykiss are found in all of the major tributaries of the Sacramento and San Joaquin rivers, which flow through California’s Central Valley and enter the ocean through San Francisco Bay and the Golden Gate. This river system is heavily affected by water development, agriculture, and invasive species, and salmon and trout hatchery propagation has been occurring for over 100 years. We collected genotype data for 18 highly variable microsatellite loci and 95 single nucleotide polymorphisms (SNPs from more than 1,900 fish from Central Valley drainages to analyze genetic diversity, population structure, differentiation between populations above and below dams, and the relationship of Central Valley O. mykiss populations to coastal California steelhead. In addition, we evaluate introgression by both hatchery rainbow trout strains, which have primarily native Central Valley ancestry, and imported coastal steelhead stocks. In contrast to patterns typical of coastal steelhead, Central Valley O. mykiss above and below dams within the same tributary were not found to be each others’ closest relatives, and we found no relationship between genetic and geographic distance among below-barrier populations. While introgression by hatchery rainbow trout strains does not appear to be widespread among above-barrier populations, steelhead in the American River and some neighboring tributaries have been introgressed by coastal steelhead. Together, these results demonstrate that the ancestral population genetic structure that existed among Central Valley tributaries has been significantly altered in contemporary populations. Future conservation, restoration, and mitigation efforts should take this into account when working to meet recovery planning goals.

  4. PAPR Reduction in OFDM-based Visible Light Communication Systems Using a Combination of Novel Peak-value Feedback Algorithm and Genetic Algorithm

    Science.gov (United States)

    Deng, Honggui; Liu, Yan; Ren, Shuang; He, Hailang; Tang, Chengying

    2017-10-01

    We propose an enhanced partial transmit sequence technique based on novel peak-value feedback algorithm and genetic algorithm (GAPFA-PTS) to reduce peak-to-average power ratio (PAPR) of orthogonal frequency division multiplexing (OFDM) signals in visible light communication (VLC) systems(VLC-OFDM). To demonstrate the advantages of our proposed algorithm, we analyze the flow of proposed technique and compare the performances with other techniques through MATLAB simulation. The results show that GAPFA-PTS technique achieves a significant improvement in PAPR reduction while maintaining low bit error rate (BER) and low complexity in VLC-OFDM systems.

  5. The effects of hospital reforms on the management of public hospitals in Tanzania: Challenges and lessons learnt.

    Science.gov (United States)

    Shwekerela, Byera

    2014-01-01

    Although hospital reforms are being advocated internationally as part of a solution to hospital management problems in developing countries, studies have shown that they do give rise to some challenges. A study was undertaken that used in-depth interviews, focus group discussion and document review to examine hospital reforms. The article examines the effects of reforms on the management of Level II public hospitals in Tanzania and documents the related challenges and lessons Learnt. It is shown that hospital reforms have mixed effects in resource-strained hospitals, and that hospital reform actions may have replaced the bureaucratic inefficiencies associated with hospitals being managed from the central level (MoHSW) with the equally bureaucratic inefficiencies that characterize the management of these hospitals from a supposedly local level, the office of the Regional Administrative Secretary (RAS). Managing hospitals from this level seems to cause many hospital management problems to be left unattended.

  6. Field experiments for student learning – what I learnt in my first weeks in Sweden two decades ago

    Science.gov (United States)

    Seibert, Jan

    2015-04-01

    Field experiments can be extremely valuable for obtaining a good understanding of hydrological processes. In this poster I revisit a field course held by Allan Rodhe when I came to Sweden two decades ago, and ask myself, with a long-term perspective, what I learnt during this course. Some of the experiments are described in more detail such as the estimation of hydraulic conductivities based on groundwater salt dilution and an experiment to demonstrate the difference between flood-wave velocity and water particle velocity. Furthermore, some general thoughts on challenges to generate a good learning environment in the field are given based on my personal experiences as a student, an assistant and a teacher.

  7. Incidence of trampoline related pediatric fractures in a large district general hospital in the United Kingdom: lessons to be learnt.

    Science.gov (United States)

    Bhangal, K K; Neen, D; Dodds, R

    2006-04-01

    To test the observation that the incidence of trampoline related pediatric fractures is increasing-both nationally and in a large district general hospital. A retrospective analysis was undertaken of patient records establishing mechanism of injury of pediatric fractures over three consecutive summers from 2000-03. Theatre records of fractures treated operatively were used as the initial data source. A statistically significant increase in trampoline related injuries was discovered. This reflects the rising incidence of injuries from national data and furthermore corresponds to the growing popularity of domestic use trampolines in the UK. The incidence of injuries is increasing. There are lessons to be learnt from existing work from countries where trampoline prevalence has been greater for longer. The authors recommend various safety measures that may reduce children's injuries.

  8. Applying the Innov8 approach for reviewing national health programmes to leave no one behind: lessons learnt from Indonesia

    Science.gov (United States)

    Saint, Victoria; Floranita, Rustini; Koemara Sakti, Gita Maya; Pambudi, Imran; Hermawan, Lukas; Villar, Eugenio; Magar, Veronica

    2018-01-01

    ABSTRACT The World Health Organization’s Innov8 Approach for Reviewing National Health Programmes to Leave No One Behind is an eight-step process that supports the operationalization of the Sustainable Development Goals’ commitment to ‘leave no one behind’. In 2014–2015, Innov8 was adapted and applied in Indonesia to review how the national neonatal and maternal health action plans could become more equity-oriented, rights-based and gender-responsive, and better address critical social determinants of health. The process was led by the Indonesian Ministry of Health, with the support of WHO. It involved a wide range of actors and aligned with/fed into the drafting of the maternal newborn health action plan and the implementation planning of the newborn action plan. Key activities included a sensitization meeting, diagnostic checklist, review workshop and in-country work by the review teams. This ‘methods forum’ article describes this adaptation and application process, the outcomes and lessons learnt. In conjunction with other sources, Innov8 findings and recommendations informed national and sub-national maternal and neonatal action plans and programming to strengthen a ‘leave no one behind’ approach. As follow-up during 2015–2017, components of the Innov8 methodology were integrated into district-level planning processes for maternal and newborn health, and Innov8 helped generate demand for health inequality monitoring and its use in planning. In Indonesia, Innov8 enhanced national capacity for equity-oriented, rights-based and gender-responsive approaches and addressing critical social determinants of health. Adaptation for the national planning context (e.g. decentralized structure) and linking with health inequality monitoring capacity building were important lessons learnt. The pilot of Innov8 in Indonesia suggests that this approach can help operationalize the SDGs’ commitment to leave no one behind, in particular in relation to

  9. Influenza A (H1N1-2009) pandemic in Singapore--public health control measures implemented and lessons learnt.

    Science.gov (United States)

    Tay, Joanne; Ng, Yeuk Fan; Cutter, Jeffery L; James, Lyn

    2010-04-01

    We describe the public health control measures implemented in Singapore to limit the spread of influenza A (H1N1-2009) and mitigate its social effects. We also discuss the key learning points from this experience. Singapore's public health control measures were broadly divided into 2 phases: containment and mitigation. Containment strategies included the triage of febrile patients at frontline healthcare settings, admission and isolation of confirmed cases, mandatory Quarantine Orders (QO) for close contacts, and temperature screening at border entry points. After sustained community transmission became established, containment shifted to mitigation. Hospitals only admitted H1N1-2009 cases based on clinical indications, not for isolation. Mild cases were managed in the community. Contact tracing and QOs tapered off, and border temperature screening ended. The 5 key lessons learnt were: (1) Be prepared, but retain flexibility in implementing control measures; (2) Surveillance, good scientific information and operational research can increase a system's ability to manage risk during a public health crisis; (3) Integrated systems-level responses are essential for a coherent public health response; (4) Effective handling of manpower surges requires creative strategies; and (5) Communication must be strategic, timely, concise and clear. Singapore's effective response to the H1N1-2009 pandemic, founded on experience in managing the 2003 SARS epidemic, was a whole-of-government approach towards pandemic preparedness planning. Documenting the measures taken and lessons learnt provides a learning opportunity for both doctors and policy makers, and can help fortify Singapore's ability to respond to future major disease outbreaks.

  10. Managing burn victims of suicide bombing attacks: outcomes, lessons learnt, and changes made from three attacks in Indonesia.

    Science.gov (United States)

    Chim, Harvey; Yew, Woon Si; Song, Colin

    2007-01-01

    Terror attacks in Southeast Asia were almost nonexistent until the 2002 Bali bomb blast, considered the deadliest attack in Indonesian history. Further attacks in 2003 (Jakarta), 2004 (Jakarta), and 2005 (Bali) have turned terrorist attacks into an ever-present reality. The authors reviewed medical charts of victims evacuated to the Singapore General Hospital (SGH) Burns Centre during three suicide attacks involving Bali (2002 and 2005) and the Jakarta Marriott hotel (2003). Problems faced, lessons learnt, and costs incurred are discussed. A burns disaster plan drawing on lessons learnt from these attacks is presented. Thirty-one patients were treated at the SGH Burns Centre in three attacks (2002 Bali attack [n = 15], 2003 Jakarta attack [n = 14], and 2005 Bali attack [n = 2]). For the 2002 Bali attack, median age was 29 years (range 20 to 50 years), median percentage of total burn surface area (TBSA) was 29% (range 5% to 55%), and median abbreviated burn severity index (ABSI) was 6 (range 3 to 10). Eight of 15 patients were admitted to the intensive care unit. For the 2003 Jakarta attack, median age was 35 years (range 24 to 56 years), median percentage of TBSA was 10% (range 2% to 46%), and median ABSI was 4 (range 3 to 9). A large number of patients had other injuries. Problems faced included manpower issues, lack of bed space, shortage of blood products, and lack of cadaver skin. The changing nature of terror attacks mandates continued vigilance and disaster preparedness. The multidimensional burns patient, complicated by other injuries, is likely to become increasingly common. A burns disaster plan with emphasis on effective command, control, and communication as well as organisation of health care personnel following a 'team concept' will do much to ensure that the sudden onset of a crisis situation at an unexpected time does not overwhelm hospital manpower and resources.

  11. Myelin basic protein as a novel genetic risk factor in rheumatoid arthritis--a genome-wide study combined with immunological analyses.

    Directory of Open Access Journals (Sweden)

    Chikashi Terao

    Full Text Available Rheumatoid arthritis (RA is a major cause of adult chronic inflammatory arthritis and a typical complex trait. Although several genetic determinants have been identified, they account for only a part of the genetic susceptibility. We conducted a genome-wide association study of RA in Japanese using 225,079 SNPs genotyped in 990 cases and 1,236 controls from two independent collections (658 cases and 934 controls in collection1; 332 cases and 302 controls in collection2, followed by replication studies in two additional collections (874 cases and 855 controls in collection3; 1,264 cases and 948 controls in collection4. SNPs showing p<0.005 in the first two collections and p<10(-4 by meta-analysis were further genotyped in the latter two collections. A novel risk variant, rs2000811, in intron2 of the myelin basic protein (MBP at chromosome 18q23 showed strong association with RA (p = 2.7×10(-8, OR 1.23, 95% CI: 1.14-1.32. The transcription of MBP was significantly elevated with the risk allele compared to the alternative allele (p<0.001. We also established by immunohistochemistry that MBP was expressed in the synovial lining layer of RA patients, the main target of inflammation in the disease. Circulating autoantibody against MBP derived from human brain was quantified by ELISA between patients with RA, other connective tissue diseases and healthy controls. As a result, the titer of anti-MBP antibody was markedly higher in plasma of RA patients compared to healthy controls (p<0.001 and patients with other connective tissue disorders (p<0.001. ELISA experiment using citrullinated recombinant MBP revealed that a large fraction of anti-MBP antibody in RA patients recognized citrullinated MBP. This is the first report of a genetic study in RA implicating MBP as a potential autoantigen and its involvement in pathogenesis of the disease.

  12. Lessons learnt for Public Policy Maker from Relocation of Tsunami Affected Villagers in Thailand

    Science.gov (United States)

    Kamthonkiat, Daroonwan; Thuy Vu, Tuong

    2013-04-01

    facilities such as water, electricity and dumping area were not enough supported in some donated areas. 3)A lot of fishermen had turned to wage-earners or unfamiliar jobs to earn for their living. Some were jobless more than a year after relocation because of less skill for other jobs, high competition for less vacancies and no capital to start their small business. 4)After a few years of relocation and adaptation in the donated houses, we found that old and young generation became a major residence while much of the working generation fishermen went back to their villages for their fishing career. Some of them leaved the right of living in the donated houses by renting out to non-tsunami impact people or leaving their houses abandoned. As a lesson learnt from the relocation of the tsunami impact villagers in Thailand during 2005 - 2010, we could summarize some critical concerns for government policy makers as listed; 1)The government may support the certificate of the ownership or title deed with some conditions to the villagers who occupied on their lands before the conservative zones were announced. They should have the right to stay further and do eco-friendly activities for earning their lives. The villagers have no right to transfer the title deed or certificate to the third parties. Only eco-friendly equipments are permitted for fishing in this area. 2)After relocation to the higher ground, basic facilities (such as water, electricity and dumping area) should be sufficiently furnished. 3)Not only skill practicing for career options should be supported, finding job vacancy should run in parallel to ensure that the tsunami impact villagers can afford their living. 4)For reducing the right transfer or leaving the donated houses abandoned, annual or continuous survey to these residences should be conducted by government sectors until 80% of them had settled on their careers and adaptations. Location analysis should be conducted before construction of houses for disaster

  13. Noninvasive monitoring of the genetic evolution of EGFR-mutant non-small-cell lung cancer by analyzing circulating tumor DNA during combination chemotherapy with gefitinib and pemetrexed or S-1

    Directory of Open Access Journals (Sweden)

    Nakahara Y

    2016-08-01

    Full Text Available Yoshiro Nakahara,1,2 Yusuke Takagi,1,3 Yukio Hosomi,1 Akiko Kagei,4 Tomohiro Yamamoto,4 Takeshi Sawada,5 Makiko Yomota,1 Yusuke Okuma,1 Shinichiro Mikura,1,6 Tatsuru Okamura1 1Department of Thoracic Oncology and Respiratory Medicine, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, 2Department of Respiratory Medicine, Kitasato University School of Medicine, Sagamihara, 3Oncology Scientific Affairs, Merck Sharp & Dohme Corp, 4GeneticLab Co., Ltd., Sapporo, 5Department of Medical Oncology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, 6Department of Respiratory Medicine, Fujieda Municipal General Hospital, Fujieda, Japan Background: Repetitive genotyping is useful to assess the genetic evolution of non-small-cell lung cancer (NSCLC during treatment, but the need for sampling by biopsy is a major obstacle. Digital polymerase chain reaction (PCR is a promising procedure for the detection of mutant alleles in plasma of cancer patients.Methods: This prospective study enrolled patients with NSCLC and known epidermal growth factor receptor (EGFR mutations and who had experienced disease progression during ongoing EGFR-tyrosine kinase inhibitor (TKI therapy. Eligible patients received daily gefitinib and either pemetrexed or S-1 every 3 weeks until disease progression or the development of unacceptable toxicity. Peripheral blood was collected before and after the combination therapy for digital PCR and hepatocyte growth factor measurement.Results: From May 2012 to January 2014, nine patients with a median age of 67 (range 52–80 years were enrolled. Patterns of disease progression during adjacent EGFR-TKI therapy were acquired resistance, observed in seven patients, and primary resistance, observed in two patients. Known EGFR mutations were detected in plasma samples of six (67% patients at study enrollment. Of these, T790M mutation was concurrently detected in three (50% patients

  14. Full likelihood analysis of genetic risk with variable age at onset disease--combining population-based registry data and demographic information.

    Directory of Open Access Journals (Sweden)

    Janne Pitkäniemi

    Full Text Available BACKGROUND: In genetic studies of rare complex diseases it is common to ascertain familial data from population based registries through all incident cases diagnosed during a pre-defined enrollment period. Such an ascertainment procedure is typically taken into account in the statistical analysis of the familial data by constructing either a retrospective or prospective likelihood expression, which conditions on the ascertainment event. Both of these approaches lead to a substantial loss of valuable data. METHODOLOGY AND FINDINGS: Here we consider instead the possibilities provided by a Bayesian approach to risk analysis, which also incorporates the ascertainment procedure and reference information concerning the genetic composition of the target population to the considered statistical model. Furthermore, the proposed Bayesian hierarchical survival model does not require the considered genotype or haplotype effects be expressed as functions of corresponding allelic effects. Our modeling strategy is illustrated by a risk analysis of type 1 diabetes mellitus (T1D in the Finnish population-based on the HLA-A, HLA-B and DRB1 human leucocyte antigen (HLA information available for both ascertained sibships and a large number of unrelated individuals from the Finnish bone marrow donor registry. The heterozygous genotype DR3/DR4 at the DRB1 locus was associated with the lowest predictive probability of T1D free survival to the age of 15, the estimate being 0.936 (0.926; 0.945 95% credible interval compared to the average population T1D free survival probability of 0.995. SIGNIFICANCE: The proposed statistical method can be modified to other population-based family data ascertained from a disease registry provided that the ascertainment process is well documented, and that external information concerning the sizes of birth cohorts and a suitable reference sample are available. We confirm the earlier findings from the same data concerning the HLA-DR3

  15. Combination of artificial neural network and genetic algorithm method for modeling of methylene blue adsorption onto wood sawdust from water samples.

    Science.gov (United States)

    Khajeh, Mostafa; Sarafraz-Yazdi, Ali; Natavan, Zahra Bameri

    2016-03-01

    The aim of this research was to develop a low price and environmentally friendly adsorbent with abundant of source to remove methylene blue (MB) from water samples. Sawdust solid-phase extraction coupled with high-performance liquid chromatography was used for the extraction and determination of MB. In this study, an experimental data-based artificial neural network model is constructed to describe the performance of sawdust solid-phase extraction method for various operating conditions. The pH, time, amount of sawdust, and temperature were the input variables, while the percentage of extraction of MB was the output. The optimum operating condition was then determined by genetic algorithm method. The optimized conditions were obtained as follows: 11.5, 22.0 min, 0.3 g, and 26.0°C for pH of the solution, extraction time, amount of adsorbent, and temperature, respectively. Under these optimum conditions, the detection limit and relative standard deviation were 0.067 μg L(-1) and <2.4%, respectively. The Langmuir and Freundlich adsorption models were applied to describe the isotherm constant and for the removal and determination of MB from water samples. © The Author(s) 2013.

  16. Molecular-genetic correlates of self-harming behaviors in eating-disordered women: findings from a combined Canadian-German sample.

    Science.gov (United States)

    Steiger, Howard; Fichter, Manfred; Bruce, Kenneth R; Joober, Ridha; Badawi, Ghislaine; Richardson, Jodie; Groleau, Patricia; Ramos, Cinthia; Israel, Mimi; Bondy, Brigitta; Quadflieg, Norbert; Bachetzky, Nadine

    2011-01-15

    Across populations, findings suggest that rates of self-mutilation, suicidal acts, and other self-harming behaviors (SHBs) may be influenced by polymorphisms that code for activity of the serotonin transporter (e.g., 5HTTLPR) and the enzyme, monoamine oxidase A (e.g., MAOAuVNTR). SHBs being common in patients with Eating Disorders (EDs), we evaluated (in a large sample of eating-disordered women) relationships between triallelic 5HTTLPR and MAOAuVNTR variants, on the one hand, and SHBs, on the other. We had 399 eating-disordered women report on eating symptoms and lifetime history of SHBs, and provide blood samples for genotyping. Individuals carrying high-function MAOAuVNTR alleles reported a history of SHBs about twice as often as did carriers of low-function alleles. We obtained no comparable main effect of 5HTTLPR, or MAOAuVNTR×5HTTLPR interaction effect. Genetic variations did not predict severity of eating symptoms. As in other populations, our findings link the MAOAuVNTR high-function alleles with increased risk of self-directed harm in bulimic females. We discuss theoretical and clinical ramifications of our results. Copyright © 2010 Elsevier Inc. All rights reserved.

  17. Genetic algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  18. Packing and Postirradiation Handling of the Anastrepha ludens (Diptera: Tephritidae) Tapachula-7 Genetic Sexing Strain: Combined Effects of Hypoxia, Pupal Size, and Temperature on Adult Quality.

    Science.gov (United States)

    Arredondo, José; Ruiz, Lia; Montoya, Pablo; Díaz-Fleischer, Francisco

    2018-04-02

    The production of genetic sexing strains (GSS) of tephritid flies for sterile insect technique (SIT) programs convey the need to determine new conditions for packing and shipment since these flies are more susceptible to stressors than standard bisexual strains. We studied the effect of hypoxia, pupae size, and temperature on the new GSS Tapachula-7 of Anastrepha ludens flies (Diptera: Tephritidae). In one experiment, we tested the interaction size hypoxia using three pupae sizes, 6 (11.6 ± 1.1 mg), 7 (15.3 ± 1.5 mg), and 8 (17.9 ± 1.3 mg) (95% of produced pupae exhibit these categories of size), and four hypoxia periods, 12, 24, 36, 48 h and a control. In a second experiment, we tested two periods of hypoxia (24 and 48 h) and four temperatures: 15, 20, 25, and 30°C and a control (without hypoxia at laboratory temperature). Our results showed that the emergence and percent of fliers from the pupae exposed to hypoxia were adversely affected; however, emergence was higher in pupae of size 7. Treatment for 12 and 24 h hypoxia led to a higher number of fliers. In the case of the interaction of hypoxia and temperature, it was observed that those flies that emerged from the pupae exposed to hypoxia at 15 and 20°C exhibited quality control parameters similar to those that were not exposed to hypoxia. We discuss our results on the basis of the metabolic response to these factors and its application in the SIT programs.

  19. Genetic Mapping

    Science.gov (United States)

    ... greatly advanced genetics research. The improved quality of genetic data has reduced the time required to identify a ... cases, a matter of months or even weeks. Genetic mapping data generated by the HGP's laboratories is freely accessible ...

  20. Methods used and lessons learnt in conducting document reviews of medical and allied health curricula ? a key step in curriculum evaluation

    OpenAIRE

    Rohwer, Anke; Schoonees, Anel; Young, Taryn

    2014-01-01

    Background This paper describes the process, our experience and the lessons learnt in doing document reviews of health science curricula. Since we could not find relevant literature to guide us on how to approach these reviews, we feel that sharing our experience would benefit researchers embarking on similar projects. Methods We followed a rigorous, transparent, pre-specified approach that included the preparation of a protocol, a pre-piloted data extraction form and coding schedule. Data we...

  1. Lessons Learnt in the Development of Level 1 PUSPATI TRIGA Reactor Probability Safety Assessment: A Collaboration Project under the Norwegian Extra Budgetary Fund

    International Nuclear Information System (INIS)

    Mazleha Maskin; Tom, P.P.; Ahmad Hassan Sallehudin Mohd Sarif; Faizal Mohamed; Mohd Fazli Zakaria; Muhamad Puad Abu

    2014-01-01

    This article reports about the lessons learnt from the development of level 1 probabilistic safety assessment (PSA) project that was implemented under the IAEA mentoring program for TRIGA MARK II PUSPATI research reactor (RTP). As a project that involved more than 3 organizations, a strategic planning of the management and implementation of individual assignment is truly a hectic task. This report compiles all related activities from the forming of the Malaysian PSA team up to the final report submitted to the IAEA. (author)

  2. Polar-interferometry: what can be learnt from the IOTA/IONIC experiment

    Science.gov (United States)

    Le Bouquin, Jean-Baptiste; Rousselet-Perraut, Karine; Berger, Jean-Philippe; Herwats, Emilie; Benisty, Myriam; Absil, Olivier; Defrere, Denis; Monnier, John; Traub, Wesley

    2008-07-01

    We report the first near-IR polar-interferometric observations, performed at the IOTA array using its integrated optics combiner IONIC. Fringes have been obtained on calibration stars and resolved late-type giants. Optical modeling of the array and dedicated laboratory measures allowed us to confirm the good accuracy obtained on the calibrated polarized visibilities and closure phases. However, no evidences for polarimetric features at high angular resolution have been detected. The simulations and the results presented here open several perspectives for polar-interferometry, especially in the context of fibered, single-mode combiners.

  3. Genetic privacy.

    Science.gov (United States)

    Sankar, Pamela

    2003-01-01

    During the past 10 years, the number of genetic tests performed more than tripled, and public concern about genetic privacy emerged. The majority of states and the U.S. government have passed regulations protecting genetic information. However, research has shown that concerns about genetic privacy are disproportionate to known instances of information misuse. Beliefs in genetic determinacy explain some of the heightened concern about genetic privacy. Discussion of the debate over genetic testing within families illustrates the most recent response to genetic privacy concerns.

  4. Capacidade combinatória, divergência genética entre linhagens de milho e correlação com heterose Combining ability, genetic divergence among maize lines and correlation with heterosis

    Directory of Open Access Journals (Sweden)

    Maria Elisa Ayres Guidetti Zagatto Paterniani

    2008-01-01

    Full Text Available Objetivou-se avaliar o desempenho de híbridos simples de milho (Zea mays L., obtidos de cruzamentos dialélicos entre linhagens divergentes, estimar a capacidade de combinação das linhagens e verificar se a divergência genética entre as linhagens, obtida por marcadores moleculares, é correlacionada com a heterose dos híbridos simples no campo. Trinta e seis híbridos resultantes de um dialelo parcial foram avaliados em Campinas e em Mococa e as 12 linhagens parentais somente em Campinas, a fim de se calcular a heterose dos híbridos. O delineamento experimental empregado foi o de blocos ao acaso, com três repetições e 2 testemunhas comerciais. Avaliaram-se os caracteres: altura da planta (AP, altura da espiga (AE e massa de grãos (MG. Análises de variância foram efetuadas, sendo as médias comparadas entre si pelo teste de Tukey a 5%. A capacidade de combinação das linhagens foi obtida de acordo com o método de Geraldi e Miranda Filho. Estimaram-se as correlações entre heterose, produtividade e capacidade específica de combinação com divergência genética obtida por AFLP e SSR. Destacou-se o híbrido PM624 x IP398, e as linhagens VER266 e L105 revelaram efeitos positivos da capacidade de combinação para produtividade. As estimativas de heterose variaram de -559 a 6.320 kg ha-1. Não houve correlação entre heterose, capacidade específica de combinação e produtividade dos híbridos com a distância genética por AFLP e SSR, indicando que não é possível fazer inferências sobre o comportamento dos híbridos de milho a partir da divergência genética entre as linhagens parentais.The objectives of this research were to evaluate single cross hybrids of maize (Zea mays L. obtained from partial diallel crosses among contrasting inbred lines, to estimate the combining ability of the lines and to verify whether the genetic diversity among those lines assessed by moleculars markers is correlated with single cross hybrid

  5. Perspectives on why digital ecologies matter: combining population genetics and ecologically informed agent-based models with GIS for managing dipteran livestock pests.

    Science.gov (United States)

    Peck, Steven L

    2014-10-01

    It is becoming clear that handling the inherent complexity found in ecological systems is an essential task for finding ways to control insect pests of tropical livestock such as tsetse flies, and old and new world screwworms. In particular, challenging multivalent management programs, such as Area Wide Integrated Pest Management (AW-IPM), face daunting problems of complexity at multiple spatial scales, ranging from landscape level processes to those of smaller scales such as the parasite loads of individual animals. Daunting temporal challenges also await resolution, such as matching management time frames to those found on ecological and even evolutionary temporal scales. How does one deal with representing processes with models that involve multiple spatial and temporal scales? Agent-based models (ABM), combined with geographic information systems (GIS), may allow for understanding, predicting and managing pest control efforts in livestock pests. This paper argues that by incorporating digital ecologies in our management efforts clearer and more informed decisions can be made. I also point out the power of these models in making better predictions in order to anticipate the range of outcomes possible or likely. Copyright © 2014 International Atomic Energy Agency 2014. Published by Elsevier B.V. All rights reserved.

  6. Economic and genetic performance of various combinations of in vitro-produced embryo transfers and artificial insemination in a dairy herd.

    Science.gov (United States)

    Kaniyamattam, Karun; Block, Jeremy; Hansen, Peter J; De Vries, Albert

    2018-02-01

    The objective of this study was to find the optimal proportions of pregnancies from an in vitro-produced embryo transfer (IVP-ET) system and artificial insemination (AI) so that profitability is maximized over a range of prices for embryos and surplus dairy heifer calves. An existing stochastic, dynamic dairy model with genetic merits of 12 traits was adapted for scenarios where 0 to 100% of the eligible females in the herd were impregnated, in increments of 10%, using IVP-ET (ET0 to ET100, 11 scenarios). Oocytes were collected from the top donors selected for the trait lifetime net merit (NM$) and fertilized with sexed semen to produce IVP embryos. Due to their greater conception rates, first ranked were eligible heifer recipients based on lowest number of unsuccessful inseminations or embryo transfers, and then on age. Next, eligible cow recipients were ranked based on the greatest average estimated breeding values (EBV) of the traits cow conception rate and daughter pregnancy rate. Animals that were not recipients of IVP embryos received conventional semen through AI, except that the top 50% of heifers ranked for EBV of NM$ were inseminated with sexed semen for the first 2 AI. The economically optimal proportions of IVP-ET were determined using sensitivity analysis performed for 24 price sets involving 6 different selling prices of surplus dairy heifer calves at approximately 105 d of age and 4 different prices of IVP embryos. The model was run for 15 yr after the start of the IVP-ET program for each scenario. The mean ± standard error of true breeding values of NM$ of all cows in the herd in yr 15 was greater by $603 ± 2 per cow per year for ET100 when compared with ET0. The optimal proportion of IVP-ET ranged from ET100 (for surplus dairy heifer calves sold for ≥$300 along with an additional premium based on their EBV of NM$ and a ≤$100 embryo price) to as low as ET0 (surplus dairy heifer calves sold at $300 with a $200 embryo price). For the default

  7. What is there to be learnt from the 1950s and 1960s for contemporary trainee teachers in Further Education?

    Directory of Open Access Journals (Sweden)

    Parfitt, Anne

    2010-06-01

    Full Text Available In this paper, some stories of staff who became Further Education (FE lecturers during the 1950s and 1960s are reported upon. What emerges is that this period when FE was being established was heavily reliant on the imagination of the actors in their community settings. Moreover, these pioneers in the sector, often from strong occupational backgrounds but with limited formal qualifications, were employed because it was considered that they would be able to use their creative wisdom to forge the necessary links with local industry and other relevant stakeholders, so as to give the FE brand a high profile in its respective local communities. It is contended that in the current, most likely prolonged, period of austerity there is much to be drawn from these experiences of yesteryear, in that what is revealed in the following is very much a perspective that funding was not necessarily the be-all and end-all when these practitioners were endeavouring to deliver excellence. In particular, it is argued that lessons can be learnt from former times and thus, by recalling these and other such narratives and including them in FE lecturers’ Initial Teacher Training(ITT and ongoing Continuing Professional Development (CPD programmes, we may stimulate our imaginations in relation to how FE can be further integrated into the local setting, despite the aforementioned contemporary financial constraints.

  8. Pesticide leaching through sandy and loamy fields – Long-term lessons learnt from the Danish Pesticide Leaching Assessment Programme

    International Nuclear Information System (INIS)

    Rosenbom, Annette E.; Olsen, Preben; Plauborg, Finn; Grant, Ruth; Juhler, René K.; Brüsch, Walter; Kjær, Jeanne

    2015-01-01

    The European Union authorization procedure for pesticides includes an assessment of the leaching risk posed by pesticides and their degradation products (DP) with the aim of avoiding any unacceptable influence on groundwater. Twelve-year's results of the Danish Pesticide Leaching Assessment Programme reveal shortcomings to the procedure by having assessed leaching into groundwater of 43 pesticides applied in accordance with current regulations on agricultural fields, and 47 of their DP. Three types of leaching scenario were not fully captured by the procedure: long-term leaching of DP of pesticides applied on potato crops cultivated in sand, leaching of strongly sorbing pesticides after autumn application on loam, and leaching of various pesticides and their DP following early summer application on loam. Rapid preferential transport that bypasses the retardation of the plow layer primarily in autumn, but also during early summer, seems to dominate leaching in a number of those scenarios. - Highlights: • Field-results reveal shortcomings in the EU authorization procedure for pesticides. • The plough layer can be bypassed via preferential transport in e.g. wormholes. • Pesticides properties are decisive for leaching pattern on the sandy fields. • The hydrogeological settings control the leaching patterns on the loamy fields. • Pesticide detection frequency seems to be independent of the month of the year. - Long-term lessons learnt from the Danish Pesticide Leaching Assessment Programme reveals shortcomings in the European Union authorization procedure for pesticides

  9. Decommissioning costing approach based on the standardised list of costing items. Lessons learnt by the OMEGA computer code

    International Nuclear Information System (INIS)

    Daniska, Vladimir; Rehak, Ivan; Vasko, Marek; Ondra, Frantisek; Bezak, Peter; Pritrsky, Jozef; Zachar, Matej; Necas, Vladimir

    2011-01-01

    The document 'A Proposed Standardised List of Items for Costing Purposes' was issues in 1999 by OECD/NEA, IAEA and European Commission (EC) for promoting the harmonisation in decommissioning costing. It is a systematic list of decommissioning activities classified in chapters 01 to 11 with three numbered levels. Four cost group are defined for cost at each level. Document constitutes the standardised matrix of decommissioning activities and cost groups with definition of content of items. Knowing what is behind the items makes the comparison of cost for decommissioning projects transparent. Two approaches are identified for use of the standardised cost structure. First approach converts the cost data from existing specific cost structures into the standardised cost structure for the purpose of cost presentation. Second approach uses the standardised cost structure as the base for the cost calculation structure; the calculated cost data are formatted in the standardised cost format directly; several additional advantages may be identified in this approach. The paper presents the costing methodology based on the standardised cost structure and lessons learnt from last ten years of the implementation of the standardised cost structure as the cost calculation structure in the computer code OMEGA. Code include also on-line management of decommissioning waste, decay of radioactively, evaluation of exposure, generation and optimisation of the Gantt chart of a decommissioning project, which makes the OMEGA code an effective tool for planning and optimisation of decommissioning processes. (author)

  10. A “Tuned” Mask Learnt Approach Based on Gravitational Search Algorithm

    Directory of Open Access Journals (Sweden)

    Youchuan Wan

    2016-01-01

    Full Text Available Texture image classification is an important topic in many applications in machine vision and image analysis. Texture feature extracted from the original texture image by using “Tuned” mask is one of the simplest and most effective methods. However, hill climbing based training methods could not acquire the satisfying mask at a time; on the other hand, some commonly used evolutionary algorithms like genetic algorithm (GA and particle swarm optimization (PSO easily fall into the local optimum. A novel approach for texture image classification exemplified with recognition of residential area is detailed in the paper. In the proposed approach, “Tuned” mask is viewed as a constrained optimization problem and the optimal “Tuned” mask is acquired by maximizing the texture energy via a newly proposed gravitational search algorithm (GSA. The optimal “Tuned” mask is achieved through the convergence of GSA. The proposed approach has been, respectively, tested on some public texture and remote sensing images. The results are then compared with that of GA, PSO, honey-bee mating optimization (HBMO, and artificial immune algorithm (AIA. Moreover, feature extracted by Gabor wavelet is also utilized to make a further comparison. Experimental results show that the proposed method is robust and adaptive and exhibits better performance than other methods involved in the paper in terms of fitness value and classification accuracy.

  11. Genetics of complex diseases

    DEFF Research Database (Denmark)

    Mellerup, Erling; Møller, Gert Lykke; Koefoed, Pernille

    2012-01-01

    A complex disease with an inheritable component is polygenic, meaning that several different changes in DNA are the genetic basis for the disease. Such a disease may also be genetically heterogeneous, meaning that independent changes in DNA, i.e. various genotypes, can be the genetic basis...... for the disease. Each of these genotypes may be characterized by specific combinations of key genetic changes. It is suggested that even if all key changes are found in genes related to the biology of a certain disease, the number of combinations may be so large that the number of different genotypes may be close...... to the number of patients suffering from the disease. This hypothesis is based on a study of bipolar disorder....

  12. Lessons learnt during the design, construction and start-up phase of a molten salt testing facility

    International Nuclear Information System (INIS)

    Rodríguez-García, Margarita-Manuela; Herrador-Moreno, Miguel; Zarza Moya, Eduardo

    2014-01-01

    In 2010, CIEMAT (Centro de investigaciones energéticas medioambientales y tecnológicas) signed a turn-key contract to have an experimental plant for thermal storage using molten salts at its PSA (Plataforma Solar de Almeria) facilities. This plant was designed to evaluate components, instrumentation and operation strategies and to give support to the industry in the qualification and evaluation of components. During the design, construction and start-up phases of this plant, many different aspects regarding design, construction and commissioning have been learnt and these will contribute to the improvement of other plants. Among other tips explained in the paper, we recommend the use of venting valves to eliminate the water present in the system after the pressure test or released by the salts during the first melting. The selection of instrumentation with no electronic components near a heat source, thus preventing them from overheating, is also advisable. The heat exchanger design and dimensioning should take into account not only the thermal losses to the atmosphere and through pipes and supports, but any possible reduction in the heat exchange surface that could have detrimental consequences in the thermal performance. Special attention must be paid when dimensioning and installing the EHT and insulation because both components are decisive in the avoidance of plug formation. Its correct installation in valves and supports and the proper positioning of the temperature control sensors, i.e. where no other heat source can distort the readings, are crucial. Recommendations and strategies for the operation and shutdown of this experimental plant are being gathered for a future paper. -- Highlights: • Description of the experimental molten salt storage system built at CIEMAT. • Design technical considerations for an experimental molten salt storage plant. • Hints for piping and heat exchangers design and thermal losses calculation. • Recommendations for

  13. Which lesson can be learnt from a historical contamination analysis of the most polluted river in Europe?

    Energy Technology Data Exchange (ETDEWEB)

    Lofrano, Giusy, E-mail: glofrano@unisa.it [Department of Chemistry and Biology, University of Salerno, via Giovanni Paolo II, 132-84084 Fisciano, Salerno (Italy); Institute of Methodologies for Environmental Analysis, National Research Council (CNR IMA), C. da S. Loja Z.I. Tito Scalo, I-85050 Potenza (Italy); Department of Environmental and Civil Engineering, University of Naples “Federico II”, Via Claudio, 21, 80127 Naples (Italy); Libralato, Giovanni [Department of Environmental Sciences, Informatics and Statistics, University Cà Foscari Venice, Campo della Celestia, 2737/B-30122 Venice (Italy); Institute of Marine Sciences, National Research Council (CNR ISMAR), Arsenale Tesa 104, Castello 2737/F-30122, Venice (Italy); Acanfora, Floriana Giuseppina [Department of Chemistry and Biology, University of Salerno, via Giovanni Paolo II, 132-84084 Fisciano, Salerno (Italy); Pucci, Luca [Legambiente Campania, Piazza Cavour, 168-80137 Naples (Italy); Carotenuto, Maurizio [Department of Chemistry and Biology, University of Salerno, via Giovanni Paolo II, 132-84084 Fisciano, Salerno (Italy)

    2015-08-15

    The Sarno River trend analysis during the last 60 years was traced focusing on the socio-economic and environmental issues. The river, originally worshiped as a god by Romans, is affected by an extreme level of environmental degradation, being sadly reputed as the most polluted river in Europe. This is the “not to be followed” example of the worst way a European river can be managed. Data about water, sediment, soil, biota and air contamination were collected from scientific papers, monitoring surveys, and technical reports depicting a sick river. Originally, the river was reputed as a source of livelihood, now it is considered a direct threat for human health. Wastewater can still flow through the river partially or completely untreated, waste production associated with the manufacture of metal products and leather tanning continues to suffer from the historical inadequacy of regional wastewater treatment plants (WWTPs), associated with the partial or no reuse of effluents. All efforts should be devoted to solving the lack of wastewater and waste management, the gap in land planning, improving the capacity of existing WWTPs also via the construction of new sewer sections, restoring Sarno River minimum vital-flow, keeping to a minimum uncontrolled discharges as well as supporting river contracts. The 2015 goal stated by the Water Framework Directive (2000/60/EC) is still far to be reached. The lesson has not been learnt yet. - Highlights: • Sarno River is far from reaching the 2015 goal of Water Framework Directive. • A full knowledge of the health status of Sarno River was provided. • Poor wastewater management and agricultural pressures as main weaknesses • Restoration of vital flow and river contracts as immediate and low cost solutions.

  14. Which lesson can be learnt from a historical contamination analysis of the most polluted river in Europe?

    International Nuclear Information System (INIS)

    Lofrano, Giusy; Libralato, Giovanni; Acanfora, Floriana Giuseppina; Pucci, Luca; Carotenuto, Maurizio

    2015-01-01

    The Sarno River trend analysis during the last 60 years was traced focusing on the socio-economic and environmental issues. The river, originally worshiped as a god by Romans, is affected by an extreme level of environmental degradation, being sadly reputed as the most polluted river in Europe. This is the “not to be followed” example of the worst way a European river can be managed. Data about water, sediment, soil, biota and air contamination were collected from scientific papers, monitoring surveys, and technical reports depicting a sick river. Originally, the river was reputed as a source of livelihood, now it is considered a direct threat for human health. Wastewater can still flow through the river partially or completely untreated, waste production associated with the manufacture of metal products and leather tanning continues to suffer from the historical inadequacy of regional wastewater treatment plants (WWTPs), associated with the partial or no reuse of effluents. All efforts should be devoted to solving the lack of wastewater and waste management, the gap in land planning, improving the capacity of existing WWTPs also via the construction of new sewer sections, restoring Sarno River minimum vital-flow, keeping to a minimum uncontrolled discharges as well as supporting river contracts. The 2015 goal stated by the Water Framework Directive (2000/60/EC) is still far to be reached. The lesson has not been learnt yet. - Highlights: • Sarno River is far from reaching the 2015 goal of Water Framework Directive. • A full knowledge of the health status of Sarno River was provided. • Poor wastewater management and agricultural pressures as main weaknesses • Restoration of vital flow and river contracts as immediate and low cost solutions

  15. Lessons learnt on biases and uncertainties in personal exposure measurement surveys of radiofrequency electromagnetic fields with exposimeters.

    Science.gov (United States)

    Bolte, John F B

    2016-09-01

    Personal exposure measurements of radio frequency electromagnetic fields are important for epidemiological studies and developing prediction models. Minimizing biases and uncertainties and handling spatial and temporal variability are important aspects of these measurements. This paper reviews the lessons learnt from testing the different types of exposimeters and from personal exposure measurement surveys performed between 2005 and 2015. Applying them will improve the comparability and ranking of exposure levels for different microenvironments, activities or (groups of) people, such that epidemiological studies are better capable of finding potential weak correlations with health effects. Over 20 papers have been published on how to prevent biases and minimize uncertainties due to: mechanical errors; design of hardware and software filters; anisotropy; and influence of the body. A number of biases can be corrected for by determining multiplicative correction factors. In addition a good protocol on how to wear the exposimeter, a sufficiently small sampling interval and sufficiently long measurement duration will minimize biases. Corrections to biases are possible for: non-detects through detection limit, erroneous manufacturer calibration and temporal drift. Corrections not deemed necessary, because no significant biases have been observed, are: linearity in response and resolution. Corrections difficult to perform after measurements are for: modulation/duty cycle sensitivity; out of band response aka cross talk; temperature and humidity sensitivity. Corrections not possible to perform after measurements are for: multiple signals detection in one band; flatness of response within a frequency band; anisotropy to waves of different elevation angle. An analysis of 20 microenvironmental surveys showed that early studies using exposimeters with logarithmic detectors, overestimated exposure to signals with bursts, such as in uplink signals from mobile phones and Wi

  16. Lessons learnt from a feasibility study on price incentivised healthy eating promotions in workplace catering establishments.

    Science.gov (United States)

    Mackison, D; Mooney, J; Macleod, M; Anderson, A S

    2016-02-01

    It is recognised that the worksite catering sector is likely to play a pivotal role in influencing dietary intake in adults of working age. The present study aimed to assess the feasibility of engaging worksites in a healthy eating intervention, implementing a price incentivised main meal intervention and measuring indicative intervention responses to inform the design of a future trial. Workplaces registered with the Scottish Healthy Living Award were invited to participate. The EatSMART intervention (a reduced price, healthy meal combination plus promotions) was implemented over 10 weeks in two worksites. Implementation was assessed by observational and sales data. Indicative effects on food habits were measured using online pre- and post-intervention questionnaires. Focus group discussions and interviews were used to determine catering staff and consumer acceptability. Thirty-seven worksites were invited to participate and four worksites responded positively. Two sites (with 1600 and 500 employees, respectively) participated. Both required significant implementation support. Estimated sales data indicated that the uptake of promoted items varied by week (range 60-187 items) and by site. A poor response rate from questionnaires limited the evaluation of intervention impact. Consumers reported improved value for money and quality. Both sites reported an intention to continue the intervention delivery. Significant efforts are required to engage worksite catering teams and implement healthy eating interventions. Evaluation methods require further development to improve data collection. Responses from consumers and catering staff suggest that further work in this area would be welcomed. © 2014 The British Dietetic Association Ltd.

  17. Genetic modification and genetic determinism

    Science.gov (United States)

    Resnik, David B; Vorhaus, Daniel B

    2006-01-01

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions. PMID:16800884

  18. Combined genetic effects of chemicals and radiation

    International Nuclear Information System (INIS)

    Kada, T.; Inoue, T.; Yokoiyama, A.; Russel, L.B.

    1979-01-01

    Interactions of chemicals and radiation are complex and there may exist other unexpected patterns that are not mentioned. We show some examples. Photodynamic mutation induction by fluorescein dyes and Radiosensitization with iodine compounds are classified as Interactions of chemicals and radiation outside of the cell. On the other hand, the Antimutagenic effects of cobaltous chloride is concerned with events taking place in cells that had already been exposed to a mutagenic agent. It is likely that the action of a mutagenic agent is not direct and that cellular functions, such as mutators or repair systems, are involved in the mutagenesis initiated by the agent. Such cellular functions can be affected by a second agent. In sexually reproducing organisms, the two agents can also act on separate cells (male and female germcells) which subsequently fuse. Interaction effects of all types will be useful in future research in shedding light on the main pathways of mutagenesis

  19. Building Cyberinfrastructures for Earth and Space Sciences so that they will come: lessons learnt from Australia

    Science.gov (United States)

    Wyborn, L. A.; Woodcock, R.

    2013-12-01

    One of the greatest drivers for change in the way scientific research is undertaken in Australia was the development of the Australian eResearch Infrastructure which was coordinated by the then Australian Government Department of Innovation, Industry, Science and Research. There were two main tranches of funding: the 2007-2013 National Collaborative Research Infrastructure Strategy (NCRIS) and the 2009 Education and Investment Framework (EIF) Super Science Initiative. Investments were in two areas: the Australian e-Research Infrastructure and domain specific capabilities: combined investment in both is 1,452M with at least 456M being invested in eResearch infrastructure. NCRIS was specifically designed as a community-guided process to provide researchers, both academic and government, with major research facilities, supporting infrastructures and networks necessary for world-class research. Extensive community engagement was sought to inform decisions on where Australia could best make strategic infrastructure investments to further develop its research capacity and improve research outcomes over the next 5 to 10years. The current (2007-2014) Australian e-Research Infrastructure has 2 components: 1. The National eResearch physical infrastructure which includes two petascale HPC facilities (one in Canberra and one in Perth), a 10 Gbps national network (National Research Network), a national data storage infrastructure comprising 8 multi petabyte data stores and shared access methods (Australian Access Federation). 2. A second component is focused on research integration infrastructures and includes the Australian National Data Service, which is concerned with better management, description and access to distributed research data in Australia and the National eResearch Collaboration Tools and Resources (NeCTAR) project. NeCTAR is centred on developing problem oriented digital laboratories which provide better and coordinated access to research tools, data

  20. Lessons learnt from clean-up of urban area after Chernobyl accident

    International Nuclear Information System (INIS)

    Zlobenko, Borys

    2008-01-01

    principles and criteria need detailed clarification. The specific aspect of this phase is the problem of social protection and social rehabilitation. The rehabilitation of the contaminated territories has been considered as a combination of measures directed at improvement of environmental conditions and the quality of life. While planning decontamination for the long term, it is important to take into account the contribution of external dose to the total (external and internal) dose. The materialization of the social aspect is a very important characteristic of this phase. Unfortunately, in spite of all the efforts, the negative consequences of the accident have not been completely overcome. Nevertheless, the data array that has been accumulated since the accident allows unbiased assessment of not only the errors but also the achievements of the stupendous work on minimization of the consequences of the accident and drawing conclusions important for the future. (author)

  1. What can be learnt from an ecotoxicity database in the framework of the REACh regulation?

    International Nuclear Information System (INIS)

    Henegar, Adina; Mombelli, Enrico; Pandard, Pascal; Pery, Alexandre R.R.

    2011-01-01

    Since REACh applies in all of EU, special emphasis has been put on the reduction of systematic ecotoxicity testing. In this context, it is important to extract a maximum of information from existing ecotoxicity databases in order to propose alternative methods aimed at replacing and reducing experimental testing. Consequently, we analyzed a database of new chemicals registered in France and Europe during the last twenty years reporting aquatic ecotoxicity data with respect to three trophic levels (i.e., Algae EC50 72 h, Daphnia EC50 48 h and Fish LC50 96 h). In order to ensure the relevance of the comparison between these three experimental tests, we performed a stringent data selection based on the pertinence and quality of available ecotoxicological information. At the end of this selection, less than 5% of the initial number of chemicals was retained for subsequent analysis. Such an analysis showed that fish was the least sensitive trophic level, whereas Daphnia had the highest sensitivity. Moreover, thanks to an analysis of the relative sensitivity of trophic levels, it was possible to establish that respective correction factors of 50 and 10 would be necessary if only one or two test values were available. From a physicochemical point of view, it was possible to characterize two significant correlations relating the sensitivity of the aforementioned trophic levels with the chemical structure of the retained substances. This analysis showed that algae displayed a higher sensitivity towards chemicals containing acid fragments whereas fish presented a higher sensitivity towards chemicals containing aromatic ether fragments. Overall, our work suggests that statistical analysis of historical data combined with data yielded by the REACh regulation should permit the derivation of robust safety factors, testing strategies and mathematical models. These alternative methods, in turn, could allow a replacement and reduction of ecotoxicological testing. - Research

  2. From Genetics to Genetic Algorithms

    Indian Academy of Sciences (India)

    Genetic algorithms (GAs) are computational optimisation schemes with an ... The algorithms solve optimisation problems ..... Genetic Algorithms in Search, Optimisation and Machine. Learning, Addison-Wesley Publishing Company, Inc. 1989.

  3. From Genetics to Genetic Algorithms

    Indian Academy of Sciences (India)

    artificial genetic system) string feature or ... called the genotype whereas it is called a structure in artificial genetic ... assigned a fitness value based on the cost function. Better ..... way it has produced complex, intelligent living organisms capable of ...

  4. About Genetic Counselors

    Science.gov (United States)

    ... clinical care in many areas of medicine. Assisted Reproductive Technology/Infertility Genetics Cancer Genetics Cardiovascular Genetics Cystic Fibrosis Genetics Fetal Intervention and Therapy Genetics Hematology Genetics Metabolic Genetics ...

  5. Communication in a Human biomonitoring study: Focus group work, public engagement and lessons learnt in 17 European countries.

    Science.gov (United States)

    Exley, Karen; Cano, Noemi; Aerts, Dominique; Biot, Pierre; Casteleyn, Ludwine; Kolossa-Gehring, Marike; Schwedler, Gerda; Castaño, Argelia; Angerer, Jürgen; Koch, Holger M; Esteban, Marta; Schoeters, Greet; Den Hond, Elly; Horvat, Milena; Bloemen, Louis; Knudsen, Lisbeth E; Joas, Reinhard; Joas, Anke; Dewolf, Marie-Christine; Van de Mieroop, Els; Katsonouri, Andromachi; Hadjipanayis, Adamos; Cerna, Milena; Krskova, Andrea; Becker, Kerstin; Fiddicke, Ulrike; Seiwert, Margarete; Mørck, Thit A; Rudnai, Peter; Kozepesy, Szilvia; Cullen, Elizabeth; Kellegher, Anne; Gutleb, Arno C; Fischer, Marc E; Ligocka, Danuta; Kamińska, Joanna; Namorado, Sónia; Reis, M Fátima; Lupsa, Ioana-Rodica; Gurzau, Anca E; Halzlova, Katarina; Jajcaj, Michal; Mazej, Darja; Tratnik, Janja Snoj; Huetos, Olga; López, Ana; Berglund, Marika; Larsson, Kristin; Sepai, Ovnair

    2015-08-01

    A communication strategy was developed by The Consortium to Perform Human Biomonitoring on a European Scale (COPHES), as part of its objectives to develop a framework and protocols to enable the collection of comparable human biomonitoring data throughout Europe. The framework and protocols were tested in the pilot study DEMOCOPHES (Demonstration of a study to Coordinate and Perform Human biomonitoring on a European Scale). The aims of the communication strategy were to raise awareness of human biomonitoring, encourage participation in the study and to communicate the study results and their public health significance. It identified the audiences and key messages, documented the procedure for dissemination of results and was updated as the project progressed. A communication plan listed the tools and materials such as press releases, flyers, recruitment letters and information leaflets required for each audience with a time frame for releasing them. Public insight research was used to evaluate the recruitment material, and the feedback was used to improve the documents. Dissemination of results was coordinated in a step by step approach by the participating countries within DEMOCOPHES, taking into account specific national messages according to the needs of each country. Participants received individual results, unless they refused to be informed, along with guidance on what the results meant. The aggregate results and policy recommendations were then communicated to the general public and stakeholders, followed by dissemination at European level. Several lessons were learnt that may assist other future human biomonitoring studies. Recruitment took longer than anticipated and so social scientists, to help with community engagement, should be part of the research team from the start. As a European study, involving multiple countries, additional considerations were needed for the numerous organisations, different languages, cultures, policies and priorities

  6. Swarm slide - debris flow disaster induced by extreme rainfall in Hiroshima, August 2014 and lessons learnt in urban designing

    Science.gov (United States)

    Fukuoka, H.; Wang, C.

    2015-12-01

    Hiroshima city was hit by swarm debris flows along a narrow, and linear-shaped rain band of 2 km x 10 km which appeared in the early morning of August 20, 2014. Most of the flows were induced by shallow slide in the upstream. This disaster claimed 74 death, although this city experienced very similar disaster in 1999, claiming more than 30 residents lives. In the most severely affected debris flow torrent, more than 50 residents were killed. Most of the casualties arose in the wooden, vulnerable houses constructed in front of the exit of torrents. Points and lessons learnt from the disaster are as follows:1. Authors collected two types of sands from the source scar of the initial debris slides which induced debris flows. Tested by the ring shear apparatus under pore-pressure control condition, clear "Sliding surface liquefaction" was confirmed for both samples even under small normal stress, representing the small thickness of the slides. These results shows even instant excess pore pressure could initiate the slides and trigger slide-induced debris flow byundrained loading onto the torrent deposits.2. Apparently long-term land-use change since 1945 affected and raised the vulnerability of the community. Residential area had expanded into hill-slope (mountainous / semi-mountainous area) especially along the torrents. Those communities were developed on the past debris flow fan.3. As the devastated area is very close to downtown of Hiroshima city, it gave large societal impact to the Japanese citizens. After 1999 Hiroshima debris flow disaster, the Landslide disaster reduction law which intends to promote designation of landslide potential risk zones, was adopted in 2000. Immediately after 2014 disaster, national diet approved revision of the bill to promote rapid completion of the designation over the national territory. MLIT (Ministry of Land, Infrastructure, Tranportation and Tourism) decided to install X-band rain radars at more sites to cover whole city zones

  7. Applying genetic algorithms to set the optimal combination of forest fire related variables and model forest fire susceptibility based on data mining models. The case of Dayu County, China.

    Science.gov (United States)

    Hong, Haoyuan; Tsangaratos, Paraskevas; Ilia, Ioanna; Liu, Junzhi; Zhu, A-Xing; Xu, Chong

    2018-07-15

    The main objective of the present study was to utilize Genetic Algorithms (GA) in order to obtain the optimal combination of forest fire related variables and apply data mining methods for constructing a forest fire susceptibility map. In the proposed approach, a Random Forest (RF) and a Support Vector Machine (SVM) was used to produce a forest fire susceptibility map for the Dayu County which is located in southwest of Jiangxi Province, China. For this purpose, historic forest fires and thirteen forest fire related variables were analyzed, namely: elevation, slope angle, aspect, curvature, land use, soil cover, heat load index, normalized difference vegetation index, mean annual temperature, mean annual wind speed, mean annual rainfall, distance to river network and distance to road network. The Natural Break and the Certainty Factor method were used to classify and weight the thirteen variables, while a multicollinearity analysis was performed to determine the correlation among the variables and decide about their usability. The optimal set of variables, determined by the GA limited the number of variables into eight excluding from the analysis, aspect, land use, heat load index, distance to river network and mean annual rainfall. The performance of the forest fire models was evaluated by using the area under the Receiver Operating Characteristic curve (ROC-AUC) based on the validation dataset. Overall, the RF models gave higher AUC values. Also the results showed that the proposed optimized models outperform the original models. Specifically, the optimized RF model gave the best results (0.8495), followed by the original RF (0.8169), while the optimized SVM gave lower values (0.7456) than the RF, however higher than the original SVM (0.7148) model. The study highlights the significance of feature selection techniques in forest fire susceptibility, whereas data mining methods could be considered as a valid approach for forest fire susceptibility modeling

  8. Delusional parasitosis: lessons learnt.

    LENUS (Irish Health Repository)

    Ahmad, Kashif

    2012-01-31

    Delusional parasitosis manifests in the patient\\'s firm belief that they have skin symptoms due to an infestation with insects. Patients often refuse to seek psychiatric care. This study reassessed patients with delusional parasitosis in order to review and learn from them, which is important due to the significant morbidity of this condition and the therapeutic difficulties it presents to the dermatologist. Between 1995 and 2008, 13 patients with delusional parasitosis (6 men, 7 women; mean age 46 years) were included in this retrospective study. Mean duration of follow-up was 50.1 months. Nine patients were treated with pimozide, but only two had complete remission. Four were treated with sulpiride with two reported partial remissions. Risperidone was given to four patients, resulting in one partial remission. Eight patients were seen in the last 6 months and five were lost to follow-up. These findings highlight the difficulties encountered in diagnosing delusional parasitosis, the lack of response to neuroleptic medication, compliance problems and the dermatologist\\'s dilemma of managing a psychiatric condition in a dermatological setting.

  9. Genetic modification and genetic determinism

    Directory of Open Access Journals (Sweden)

    Vorhaus Daniel B

    2006-06-01

    Full Text Available Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  10. Genetic Engineering

    Science.gov (United States)

    Phillips, John

    1973-01-01

    Presents a review of genetic engineering, in which the genotypes of plants and animals (including human genotypes) may be manipulated for the benefit of the human species. Discusses associated problems and solutions and provides an extensive bibliography of literature relating to genetic engineering. (JR)

  11. Genetic Romanticism

    DEFF Research Database (Denmark)

    Tupasela, Aaro

    2016-01-01

    inheritance as a way to unify populations within politically and geographically bounded areas. Thus, new genetics have contributed to the development of genetic romanticisms, whereby populations (human, plant, and animal) can be delineated and mobilized through scientific and medical practices to represent...

  12. Genetics of allergy and bronchial hyperresponsiveness

    NARCIS (Netherlands)

    Howard, TD; Wiesch, DG; Koppelman, GH; Postma, DS; Meyers, DA; Bleecker, ER

    Allergy and asthma are closely related complex diseases caused by a combination of both genetic and environmental influences. Two common genetic approaches, candidate gene studies and genome-wide screens, have been used to localize and evaluate potential genetic factors that confer susceptibility or

  13. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    combined multivariate and collapsing method; myocardial infarction; exome sequencing ... disease caused by combination of genetic and environmental factors. ... more than 46 risk loci which are associated with coronary artery disease and ...

  14. Forecast Combinations

    OpenAIRE

    Timmermann, Allan G

    2005-01-01

    Forecast combinations have frequently been found in empirical studies to produce better forecasts on average than methods based on the ex-ante best individual forecasting model. Moreover, simple combinations that ignore correlations between forecast errors often dominate more refined combination schemes aimed at estimating the theoretically optimal combination weights. In this paper we analyse theoretically the factors that determine the advantages from combining forecasts (for example, the d...

  15. A combined analysis of 48 type 2 diabetes genetic risk variants shows no discriminative value to predict time to first prescription of a glucose lowering drug in Danish patients with screen detected type 2 diabetes

    DEFF Research Database (Denmark)

    Hornbak, Malene; Allin, Kristine Højgaard; Jensen, Majken Linnemann

    2014-01-01

    OBJECTIVE: To investigate the genetic influence of 48 type 2 diabetes susceptibility variants on disease progression measured as risk of early prescription redemption of glucose lowering drugs in screen-detected patients with type 2 diabetes. METHODS: We studied type 2 diabetes progression in 1...... according to either a conventional or a multifactorial intensive treatment algorithm. We investigated the genetic influence on diabetes progression by constructing a genetic risk score (GRS) of all 48 validated type 2 diabetes susceptibility variants, a GRS of 11 variants linked to β-cell function and a GRS...

  16. Genetic doping and health damages.

    Science.gov (United States)

    Fallahi, Aa; Ravasi, Aa; Farhud, Dd

    2011-01-01

    Use of genetic doping or gene transfer technology will be the newest and the lethal method of doping in future and have some unpleasant consequences for sports, athletes, and outcomes of competitions. The World Anti-Doping Agency (WADA) defines genetic doping as "the non-therapeutic use of genes, genetic elements, and/or cells that have the capacity to enhance athletic performance ". The purpose of this review is to consider genetic doping, health damages and risks of new genes if delivered in athletes. This review, which is carried out by reviewing relevant publications, is primarily based on the journals available in GOOGLE, ELSEVIER, PUBMED in fields of genetic technology, and health using a combination of keywords (e.g., genetic doping, genes, exercise, performance, athletes) until July 2010. There are several genes related to sport performance and if they are used, they will have health risks and sever damages such as cancer, autoimmunization, and heart attack.

  17. Pilot towards developing a school mental health service : Experiences and lessons learnt in implementing Kenya integrated intervention model for dialogue and screening to promote children's mental well-being

    NARCIS (Netherlands)

    Mutiso, Victoria N.; Musyimi, Christine W.; Musau, Abednego M.; Nandoya, Erick S.; Mckenzie, Kwame; Ndetei, David M.

    2018-01-01

    Aim: This paper aims at documenting the process of implementing "Kenya Integrated intervention model for Dialogue and Screening to promote children's mental wellbeing (KIDS)", with emphasis on activities, experiences, challenges and lessons learnt through the process that can inform improvement in

  18. Examples of great cross-border floods in Central Europe and lessons learnt (case studies of floods from September and November 1890 on the occasion of their 120th anniversary)

    Czech Academy of Sciences Publication Activity Database

    Munzar, Jan; Deutsch, M.; Ondráček, Stanislav; Kallabová, Eva

    2010-01-01

    Roč. 18, č. 4 (2010), s. 21-29 ISSN 1210-8812 Institutional research plan: CEZ:AV0Z30860518 Keywords : cross-border floods 1890 * Central Europe * lessons learnt Subject RIV: DA - Hydrology ; Limnology http://www.geonika.cz/CZ/CZresearch/CZMgrArchive.html

  19. The RAFT Telemedicine Network: Lessons Learnt and Perspectives from a Decade of Educational and Clinical Services in Low- and Middle-Incomes Countries.

    Science.gov (United States)

    Bediang, Georges; Perrin, Caroline; Ruiz de Castañeda, Rafael; Kamga, Yannick; Sawadogo, Alexandre; Bagayoko, Cheick Oumar; Geissbuhler, Antoine

    2014-01-01

    The objectives of this paper are to (i) provide an overview of the educational and clinical experiences of the Réseau en Afrique Francophone pour la Télémédecine (RAFT) network, (ii) analyze key challenges and lessons learnt throughout a decade of activity, and (iii) draw a vision and perspectives of its sustainability. The study was carried out following three main stages: (i) a literature review, (ii) the analysis of key documents, and (iii) discussions with key collaborators of the RAFT. Réseau en Afrique Francophone pour la Télémédecine has been offering an important quantity of educational, clinical, and public health activities during the last decade. The educational activities include the weekly delivery of video-lectures for continuing and post-graduate medical education, the use of virtual patients for training in clinical decision making, research training activities using ICTs and other e-learning activities. The clinical and public health activities include tele-expertise to support health professionals in the management of difficult clinical cases, the implementation of clinical information systems in African hospitals, the deployment of mHealth projects, etc. Since 2010, the RAFT has been extended to the Altiplano in Bolivia and Nepal (in progress). Lessons Learnt and Perspectives: Important lessons have been learnt from the accumulated experiences throughout these years. These lessons concern: social and organization, human resources, technologies and data security, policy and legislation, and economy and financing. Also, given the increase of the activities and the integration of eHealth and telemedicine in the health system of most of the countries, the RAFT network faces many other challenges and perspectives such as learning throughout life, recognition, and valorization of teaching or learning activities, the impact evaluation of interventions, and the scaling up and transferability out of Africa of RAFT activities. Based on the RAFT

  20. Coalgebraic structure of genetic inheritance.

    Science.gov (United States)

    Tian, Jianjun; Li, Bai-Lian

    2004-09-01

    Although in the broadly defined genetic algebra, multiplication suggests a forward direction of from parents to progeny, when looking from the reverse direction, it also suggests to us a new algebraic structure-coalge- braic structure, which we call genetic coalgebras. It is not the dual coalgebraic structure and can be used in the construction of phylogenetic trees. Math- ematically, to construct phylogenetic trees means we need to solve equations x([n]) = a, or x([n]) = b. It is generally impossible to solve these equations inalgebras. However, we can solve them in coalgebras in the sense of tracing back for their ancestors. A thorough exploration of coalgebraic structure in genetics is apparently necessary. Here, we develop a theoretical framework of the coalgebraic structure of genetics. From biological viewpoint, we defined various fundamental concepts and examined their elementary properties that contain genetic significance. Mathematically, by genetic coalgebra, we mean any coalgebra that occurs in genetics. They are generally noncoassociative and without counit; and in the case of non-sex-linked inheritance, they are cocommutative. Each coalgebra with genetic realization has a baric property. We have also discussed the methods to construct new genetic coalgebras, including cocommutative duplication, the tensor product, linear combinations and the skew linear map, which allow us to describe complex genetic traits. We also put forward certain theorems that state the relationship between gametic coalgebra and gametic algebra. By Brower's theorem in topology, we prove the existence of equilibrium state for the in-evolution operator.

  1. Genetics Home Reference: adenosine deaminase deficiency

    Science.gov (United States)

    ... Combined Immunodeficiency (SCID) and Conditions Associated with T Cell Lymphoneia (PDF) Genetic Testing (1 link) Genetic Testing Registry: Severe ... Diseases Immune Deficiency Foundation Jeffrey Modell Foundation National Organization for Rare ... OMIM (1 link) SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE ...

  2. Evolutionary genetics

    National Research Council Canada - National Science Library

    Maynard Smith, John

    1989-01-01

    .... It differs from other textbooks of population genetics in applying the basic theory to topics, such as social behaviour, molecular evolution, reiterated DNA, and sex, which are the main subjects...

  3. Genetic Discrimination

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  4. Arthropod Genetics.

    Science.gov (United States)

    Zumwalde, Sharon

    2000-01-01

    Introduces an activity on arthropod genetics that involves phenotype and genotype identification of the creature and the construction process. Includes a list of required materials and directions to build a model arthropod. (YDS)

  5. Desktop Genetics

    OpenAIRE

    Hough, Soren H; Ajetunmobi, Ayokunmi; Brody, Leigh; Humphryes-Kirilov, Neil; Perello, Edward

    2016-01-01

    Desktop Genetics is a bioinformatics company building a gene-editing platform for personalized medicine. The company works with scientists around the world to design and execute state-of-the-art clustered regularly interspaced short palindromic repeats (CRISPR) experiments. Desktop Genetics feeds the lessons learned about experimental intent, single-guide RNA design and data from international genomics projects into a novel CRISPR artificial intelligence system. We believe that machine learni...

  6. J. Genet. classic 101

    Indian Academy of Sciences (India)

    Journal of Genetics, Vol. 85, No. 2, August 2006. 101. Page 2. J. Genet. classic. 102. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 3. J. Genet. classic. Journal of Genetics, Vol. 85, No. 2, August 2006. 103. Page 4. J. Genet. classic. 104. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 5. J. Genet. classic.

  7. J. Genet. classic 37

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 84, No. 1, April 2005. 37. Page 2. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 38. Page 3. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 39. Page 4. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 40. Page 5. J. Genet. classic. Journal of ...

  8. Genetic and nutrition development of indigenous chicken in Africa

    DEFF Research Database (Denmark)

    Khobondo, J O; Muasya, T K; Miyumo, S

    2015-01-01

    This review gives insights into genetic and feeding regime development for indigenous chicken genetic resources. We highlight and combine confirming evidence of genetic diversity and variability using morphological and molecular techniques. We further discuss previous past and current genetic...... requirement for indigenous chicken and report nutritive contents of various local feedstuffs under various production systems. Various conservation strategies for sustainable utilization are hereby reviewed...

  9. Genetic GIScience

    DEFF Research Database (Denmark)

    Jacquez, Geoffrey; Sabel, Clive E; Shi, Chen

    2015-01-01

    The exposome, defined as the totality of an individual's exposures over the life course, is a seminal concept in the environmental health sciences. Although inherently geographic, the exposome as yet is unfamiliar to many geographers. This article proposes a place-based synthesis, genetic...... geographic information science (genetic GIScience), that is founded on the exposome, genome+, and behavome. It provides an improved understanding of human health in relation to biology (the genome+), environmental exposures (the exposome), and their social, societal, and behavioral determinants (the behavome......). Genetic GIScience poses three key needs: first, a mathematical foundation for emergent theory; second, process-based models that bridge biological and geographic scales; third, biologically plausible estimates of space?time disease lags. Compartmental models are a possible solution; this article develops...

  10. Desktop Genetics.

    Science.gov (United States)

    Hough, Soren H; Ajetunmobi, Ayokunmi; Brody, Leigh; Humphryes-Kirilov, Neil; Perello, Edward

    2016-11-01

    Desktop Genetics is a bioinformatics company building a gene-editing platform for personalized medicine. The company works with scientists around the world to design and execute state-of-the-art clustered regularly interspaced short palindromic repeats (CRISPR) experiments. Desktop Genetics feeds the lessons learned about experimental intent, single-guide RNA design and data from international genomics projects into a novel CRISPR artificial intelligence system. We believe that machine learning techniques can transform this information into a cognitive therapeutic development tool that will revolutionize medicine.

  11. Evolution of Genetic Variance during Adaptive Radiation.

    Science.gov (United States)

    Walter, Greg M; Aguirre, J David; Blows, Mark W; Ortiz-Barrientos, Daniel

    2018-04-01

    Genetic correlations between traits can concentrate genetic variance into fewer phenotypic dimensions that can bias evolutionary trajectories along the axis of greatest genetic variance and away from optimal phenotypes, constraining the rate of evolution. If genetic correlations limit adaptation, rapid adaptive divergence between multiple contrasting environments may be difficult. However, if natural selection increases the frequency of rare alleles after colonization of new environments, an increase in genetic variance in the direction of selection can accelerate adaptive divergence. Here, we explored adaptive divergence of an Australian native wildflower by examining the alignment between divergence in phenotype mean and divergence in genetic variance among four contrasting ecotypes. We found divergence in mean multivariate phenotype along two major axes represented by different combinations of plant architecture and leaf traits. Ecotypes also showed divergence in the level of genetic variance in individual traits and the multivariate distribution of genetic variance among traits. Divergence in multivariate phenotypic mean aligned with divergence in genetic variance, with much of the divergence in phenotype among ecotypes associated with changes in trait combinations containing substantial levels of genetic variance. Overall, our results suggest that natural selection can alter the distribution of genetic variance underlying phenotypic traits, increasing the amount of genetic variance in the direction of natural selection and potentially facilitating rapid adaptive divergence during an adaptive radiation.

  12. New Genetics

    Science.gov (United States)

    ... of the booklet. » more Chapter 1: How Genes Work Covers DNA, RNA, transcription, RNA splicing, translation, ribosomes, antibiotics, genetic diseases, gene chips. » more Chapter 2: RNA and DNA Revealed: New Roles, New Rules Covers microRNAs, RNAi, epigenetics, telomeres, mtDNA, recombinant DNA. » ...

  13. Genetic effects

    International Nuclear Information System (INIS)

    Kato, Hiroo

    1975-01-01

    In 1948-1953 a large scale field survey was conducted to investigate the possible genetic effects of A-bomb radiation on over 70,000 pregnancy terminations in the cities of Hiroshima and Nagasaki. The indices of possible genetic effect including sex ratio, birth weight, frequency of malformation, stillbirth, neonatal death, deaths within 9 months and anthropometric measurements at 9 months of age for these children were investigated in relation to their parent's exposure status to the A-bomb. There were no detectable genetic effects in this sample, except for a slight change in sex ratio which was in the direction to be expected if exposure had induced sex-linked lethal mutations. However, continued study of the sex ratio, based upon birth certificates in Hiroshima and Nagasaki for 1954-1962, did not confirm the earlier trend. Mortality in these children of A-bomb survivors is being followed using a cohort of 54,000 subjects. No clearly significant effect of parental exposure on survival of the children has been demonstrated up to 1972 (age 17 on the average). On the basis of the regression data, the minimal genetic doubling dose of this type of radiation for mutations resulting in death is estimated at 46 rem for the father and 125 rem for the mother. (auth.)

  14. Genetic Recombination

    Science.gov (United States)

    Whitehouse, H. L. K.

    1973-01-01

    Discusses the mechanisms of genetic recombination with particular emphasis on the study of the fungus Sordaria brevicollis. The study of recombination is facilitated by the use of mutants of this fungus in which the color of the ascospores is affected. (JR)

  15. Genetic analysis

    NARCIS (Netherlands)

    Koornneef, M.; Alonso-Blanco, C.; Stam, P.

    2006-01-01

    The Mendelian analysis of genetic variation, available as induced mutants or as natural variation, requires a number of steps that are described in this chapter. These include the determination of the number of genes involved in the observed trait's variation, the determination of dominance

  16. Molecular genetics

    International Nuclear Information System (INIS)

    Parkinson, D.R.; Krontiris, T.G.

    1986-01-01

    In this chapter the authors review new findings concerning the molecular genetics of malignant melanoma in the context of other information obtained from clinical, epidemiologic, and cytogenetic studies in this malignancy. These new molecular approaches promise to provide a more complete understanding of the mechanisms involved in the development of melanoma, thereby suggesting new methods for its treatment and prevention

  17. J. Genet. classic 235

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 83, No. 3, December 2004. 235. Page 2. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 236. Page 3. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 237. Page 4. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 238. Page 5 ...

  18. Genetic effects

    International Nuclear Information System (INIS)

    Bender, M.A.; Abrahamson, S.; Denniston, C.; Schull, W.J.

    1989-01-01

    In this chapter, we present a comprehensive analysis of the major classes of genetic diseases that would be increased as a result of an increased gonadal radiation exposure to a human population. The risk analysis takes on two major forms: the increase in genetic disease that would be observed in the immediate offspring of the exposed population, and the subsequent transmission of the newly induced mutations through future generations. The major classes of genetic disease will be induced at different frequencies, and will also impact differentially in terms of survivability and fertility on the affected individuals and their descendants. Some classes of disease will be expected to persist for only a few generations at most. Other types of genetic disease will persist through a longer period. The classes of genetic diseases studied are: dominant gene mutation, X-linked gene mutation, chromosome disorders and multifactorial disorders which involve the interaction of many mutant genes and environmental factors. For each of these classes we have derived the general equations of mutation induction for the male and female germ cells of critical importance in the mutation process. The frequency of induced mutations will be determined initially by the dose received, the type of radiation and, to some extent at high dose, by the manner in which the dose is received. We have used the modeling analyses to predict the outcomes for two nuclear power plant accident scenarios, the first in which the population receives a chronic dose of 0.1 Gy (10 rad) over a 50-year period, the second in which an equivalent population receives an acute dose of 2 Gy. In both cases the analyses are projected over a period of five generations

  19. Laboratory Course on "Streptomyces" Genetics and Secondary Metabolism

    Science.gov (United States)

    Siitonen, Vilja; Räty, Kaj; Metsä-Ketelä, Mikko

    2016-01-01

    The "'Streptomyces' genetics and secondary metabolism" laboratory course gives an introduction to the versatile soil dwelling Gram-positive bacteria "Streptomyces" and their secondary metabolism. The course combines genetic modification of "Streptomyces"; growing of the strain and protoplast preparation, plasmid…

  20. combination Dictionary

    African Journals Online (AJOL)

    rbr

    of the idiomatic expression as a whole" (Crystal 2003: 225-226). Idiomatic .... nations and idioms.11 Nonetheless, free combinations of words have not been .... those who thronged Emmett place last night wanted to see the film, and they.

  1. Winning Combinations

    DEFF Research Database (Denmark)

    Criscuolo, Paola; Laursen, Keld; Reichstein, Toke

    2018-01-01

    examine the effectiveness of different combinations of knowledge sources for achieving innovative performance. We suggest that combinations involving integrative search strategies – combining internal and external knowledge – are the most likely to generate product and process innovation. In this context......, we present the idea that cognitively distant knowledge sources are helpful for innovation only when used in conjunction with knowledge sources that are closer to the focal firm. We also find important differences between product and process innovation, with the former associated with broader searches......Searching for the most rewarding sources of innovative ideas remains a key challenge in management of technological innovation. Yet, little is known about which combinations of internal and external knowledge sources are triggers for innovation. Extending theories about searching for innovation, we...

  2. Genetics of hereditary neurological disorders in children.

    Science.gov (United States)

    Huang, Yue; Yu, Sui; Wu, Zhanhe; Tang, Beisha

    2014-04-01

    Hereditary neurological disorders (HNDs) are relatively common in children compared to those occurring in adulthood. Recognising clinical manifestations of HNDs is important for the selection of genetic testing, genetic testing results interpretation, and genetic consultation. Meanwhile, advances in next generation sequencing (NGS) technologies have significantly enabled the discovery of genetic causes of HNDs and also challenge paediatricians on applying genetic investigation. Combination of both clinical information and advanced technologies will enhance the genetic test yields in clinical setting. This review summarises the clinical presentations as well as genetic causes of paediatric neurological disorders in four major areas including movement disorders, neuropsychiatric disorders, neuron peripheral disorders and epilepsy. The aim of this review is to help paediatric neurologists not only to see the clinical features but also the complex genetic aspect of HNDs in order to utilise genetic investigation confidently in their clinical practice. A smooth transition from research based to clinical use of comprehensive genetic testing in HNDs in children could be foreseen in the near future while genetic testing, genetic counselling and genetic data interpretation are in place appropriately.

  3. Advances in human genetics

    Energy Technology Data Exchange (ETDEWEB)

    Harris, H.; Hirschhorn, K. (eds.)

    1993-01-01

    This book has five chapters covering peroxisomal diseases, X-linked immunodeficiencies, genetic mutations affecting human lipoproteins and their receptors and enzymes, genetic aspects of cancer, and Gaucher disease. The chapter on peroxisomes covers their discovery, structure, functions, disorders, etc. The chapter on X-linked immunodeficiencies discusses such diseases as agammaglobulinemia, severe combined immunodeficiency, Wiskott-Aldrich syndrome, animal models, linkage analysis, etc. Apolipoprotein formation, synthesis, gene regulation, proteins, etc. are the main focus of chapter 3. The chapter on cancer covers such topics as oncogene mapping and the molecular characterization of some recessive oncogenes. Gaucher disease is covered from its diagnosis, classification, and prevention, to its organ system involvement and molecular biology.

  4. Genetic effects

    International Nuclear Information System (INIS)

    Abrahamson, S.; Bender, M.; Denniston, C.; Schull, W.

    1985-01-01

    Modeling analyses are used to predict the outcomes for two nuclear power plant accident scenarios, the first in which the population received a chronic dose of 0.1 Gy (10 rad) over a 50 year period, the second in which an equivalent population receives acute dose of 2 Gy. In both cases the analyses are projected over a period of five generations. The risk analysis takes on two major forms: the increase in genetic disease that would be observed in the immediate offspring of the exposed population, and the subsequent transmission of the newly induced mutations through future generations. The classes of genetic diseases studied are: dominant gene mutation, X-linked gene mutation, chromosome disorders and multifactorial disorders which involve the interaction of many mutant genes and environmental factors. 28 references, 3 figures, 5 tables

  5. Cancer Genetics Services Directory

    Science.gov (United States)

    ... Services Directory Cancer Prevention Overview Research NCI Cancer Genetics Services Directory This directory lists professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, ...

  6. Genetic programming theory and practice XII

    CERN Document Server

    Riolo, Rick; Kotanchek, Mark

    2015-01-01

    These contributions, written by the foremost international researchers and practitioners of Genetic Programming (GP), explore the synergy between theoretical and empirical results on real-world problems, producing a comprehensive view of the state of the art in GP. Topics in this volume include: gene expression regulation, novel genetic models for glaucoma, inheritable epigenetics, combinators in genetic programming, sequential symbolic regression, system dynamics, sliding window symbolic regression, large feature problems, alignment in the error space, HUMIE winners, Boolean multiplexer funct

  7. Articulated Human Motion Tracking Using Sequential Immune Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Yi Li

    2013-01-01

    Full Text Available We formulate human motion tracking as a high-dimensional constrained optimization problem. A novel generative method is proposed for human motion tracking in the framework of evolutionary computation. The main contribution is that we introduce immune genetic algorithm (IGA for pose optimization in latent space of human motion. Firstly, we perform human motion analysis in the learnt latent space of human motion. As the latent space is low dimensional and contents the prior knowledge of human motion, it makes pose analysis more efficient and accurate. Then, in the search strategy, we apply IGA for pose optimization. Compared with genetic algorithm and other evolutionary methods, its main advantage is the ability to use the prior knowledge of human motion. We design an IGA-based method to estimate human pose from static images for initialization of motion tracking. And we propose a sequential IGA (S-IGA algorithm for motion tracking by incorporating the temporal continuity information into the traditional IGA. Experimental results on different videos of different motion types show that our IGA-based pose estimation method can be used for initialization of motion tracking. The S-IGA-based motion tracking method can achieve accurate and stable tracking of 3D human motion.

  8. Violence and HIV/AIDS prevention among female out-of-school youths in southwestern Nigeria: lessons learnt from interventions targeted at hawkers and apprentices.

    Science.gov (United States)

    Fawole, O I; Ajuwon, A J; Osungbade, K O

    2004-12-01

    Between 1997 and 2003, four studies on hawkers and apprentices in motor parks and work shops in south west, Nigeria were carried out to evaluate the effectiveness of interventions aimed at preventing HIV infection and gender based violence (GBV). The studies were in 3 phases namely baseline survey, intervention and end line survey. Interventions consisting of:--development and distribution of education materials and training programmes for the police, judiciary, instructors, drivers, traders and apprentices/hawkers, including micro-credit facilities were implemented in some of the studies. The major lessons learnt were that: Young girls working in the informal sector of the Nigerian economy face dual risks of HIV infection and GBV and yet they are seldom targets of intervention; Many had been victims of GBV and did not seek redress either because they accept it is their lot, are afraid of being stigmatized or are put off the prolonged legal system; Perpetrators tend to deny their involvement in violence; Despite the challenges involved, interventions implemented among female apprentices and hawkers, especially those that involve multiple stakeholders, made a difference in protecting this group from dual risks of GBV and HIV/AIDS infection. We recommend more intervention programmes for this population, and regulation of activities in the informal sector of the Nigerian economy.

  9. Radioguided localisation of impalpable breast lesions using 99m-Technetium macroaggregated albumin: Lessons learnt during introduction of a new technique to guide preoperative localisation

    Energy Technology Data Exchange (ETDEWEB)

    Landman, Joanne [Department of Nuclear Medicine, Royal Perth Hospital, Perth, Western Australia (Australia); Kulawansa, Sagarika [Department of Diagnostic and Interventional Radiology, Royal Perth Hospital, Perth, Western Australia (Australia); McCarthy, Michael; Troedson, Russell [Department of Nuclear Medicine, Royal Perth Hospital, Perth, Western Australia (Australia); Phillips, Michael [Western Australian Institute for Medical Research, University of Western Australia, Perth, Western Australia (Australia); Tinning, Jill [The Multidisciplinary Breast Service, Royal Perth Hospital, Perth, Western Australia (Australia); Taylor, Donna, E-mail: Donna.Taylor@health.wa.gov.au [Department of Diagnostic and Interventional Radiology, Royal Perth Hospital, Perth, Western Australia (Australia); School of Surgery, University of Western Australia, Perth, Western Australia (Australia); Department of Nuclear Medicine, Royal Perth Hospital, Perth, Western Australia (Australia)

    2015-03-15

    Preoperative wire-guided localisation (WGL) of impalpable breast lesions is widely used but can be technically difficult. Risks include wire migration, inaccurate placement, and inadequate surgical margins. Research shows that radioguided occult lesion localisation (ROLL) is quicker, easier, and can improve surgical and cosmetic outcomes. An audited introduction of ROLL was conducted to validate the technique as a feasible alternative to WGL. Fifty patients with single impalpable lesions and biopsy proven malignancy or indeterminate histology underwent WGL followed by intralesional radiopharmaceutical injection of 99m-Technetium macroaggregated albumin. Postprocedural mammography was performed to demonstrate wire position, and scintigraphy to evaluate radiopharmaceutical migration. Lymphoscintigraphy and intraoperative sentinel node biopsy were performed if indicated, followed by lesion localisation and excision using a gamma probe. Specimen imaging was performed, with immediate reexcision for visibly inadequate margins. Accurate localisation was achieved in 86% of patients with ROLL compared to 72% with WGL. All lesions were successfully removed, with clear margins in 71.8% of malignant lesions. Reexcision and intraoperative sentinel node localisation rates were equivalent to preaudit figures for WGL. ROLL was easy to perform and problems were infrequent. Inaccurate radiopharmaceutical placement necessitating WGL occurred in four patients. Minor radiopharmaceutical migration was common, but precluded using ROLL in only two cases. ROLL is effective, simple, inexpensive, and easily learnt; however, preoperative confirmation of correct radiopharmaceutical placement using mammography and the gamma probe is important to help ensure successful lesion removal. Insertion of a backup hookwire is recommended during the initial introduction of ROLL.

  10. Learning Intelligent Genetic Algorithms Using Japanese Nonograms

    Science.gov (United States)

    Tsai, Jinn-Tsong; Chou, Ping-Yi; Fang, Jia-Cen

    2012-01-01

    An intelligent genetic algorithm (IGA) is proposed to solve Japanese nonograms and is used as a method in a university course to learn evolutionary algorithms. The IGA combines the global exploration capabilities of a canonical genetic algorithm (CGA) with effective condensed encoding, improved fitness function, and modified crossover and…

  11. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Research Article Volume 92 Issue 3 December 2013 pp 529-543 ... combining ability; NCII design; QTL analysis; digenic; multiple alleles. ... and Quantitative Genetics, College of Agricultural Science, Yangzhou University, 225009 Yangzhou, ...

  12. Integrated weed management systems with herbicide-tolerant crops in the European Union: lessons learnt from home and abroad.

    Science.gov (United States)

    Lamichhane, Jay Ram; Devos, Yann; Beckie, Hugh J; Owen, Micheal D K; Tillie, Pascal; Messéan, Antoine; Kudsk, Per

    2017-06-01

    Conventionally bred (CHT) and genetically modified herbicide-tolerant (GMHT) crops have changed weed management practices and made an important contribution to the global production of some commodity crops. However, a concern is that farm management practices associated with the cultivation of herbicide-tolerant (HT) crops further deplete farmland biodiversity and accelerate the evolution of herbicide-resistant (HR) weeds. Diversification in crop systems and weed management practices can enhance farmland biodiversity, and reduce the risk of weeds evolving herbicide resistance. Therefore, HT crops are most effective and sustainable as a component of an integrated weed management (IWM) system. IWM advocates the use of multiple effective strategies or tactics to manage weed populations in a manner that is economically and environmentally sound. In practice, however, the potential benefits of IWM with HT crops are seldom realized because a wide range of technical and socio-economic factors hamper the transition to IWM. Here, we discuss the major factors that limit the integration of HT crops and their associated farm management practices in IWM systems. Based on the experience gained in countries where CHT or GMHT crops are widely grown and the increased familiarity with their management, we propose five actions to facilitate the integration of HT crops in IWM systems within the European Union.

  13. Forecast combinations

    OpenAIRE

    Aiolfi, Marco; Capistrán, Carlos; Timmermann, Allan

    2010-01-01

    We consider combinations of subjective survey forecasts and model-based forecasts from linear and non-linear univariate specifications as well as multivariate factor-augmented models. Empirical results suggest that a simple equal-weighted average of survey forecasts outperform the best model-based forecasts for a majority of macroeconomic variables and forecast horizons. Additional improvements can in some cases be gained by using a simple equal-weighted average of survey and model-based fore...

  14. Genetically engineered mouse models of craniopharyngioma: an opportunity for therapy development and understanding of tumor biology.

    Science.gov (United States)

    Apps, John Richard; Martinez-Barbera, Juan Pedro

    2017-05-01

    Adamantinomatous craniopharyngioma (ACP) is the commonest tumor of the sellar region in childhood. Two genetically engineered mouse models have been developed and are giving valuable insights into ACP biology. These models have identified novel pathways activated in tumors, revealed an important function of paracrine signalling and extended conventional theories about the role of organ-specific stem cells in tumorigenesis. In this review, we summarize these mouse models, what has been learnt, their limitations and open questions for future research. We then discussed how these mouse models may be used to test novel therapeutics against potentially targetable pathways recently identified in human ACP. © 2017 The Authors. Brain Pathology published by John Wiley & Sons Ltd on behalf of International Society of Neuropathology.

  15. Combined homicide

    Directory of Open Access Journals (Sweden)

    Slović Živana

    2017-01-01

    Full Text Available Introduction: Combined homicide is a combination of two or more different modes of killing. These homicides occur when multiple perpetrators have different mode of killing, to hide the true manner of death, or when an initially unsuccessful attack with one weapon is abandoned and changed by another mode which is more successful, or due to availability of weapons at the scene of homicide, or unexpected appearance of possible eyewitness, or else. Case report: This case report is about 65-year old woman who was found in her residence on the floor next to the bed lying on her back with two kitchen knives in her neck. Autopsy revealed an abrasion on the frontal part of the neck and a bruise of the soft tissues of the neck with a double fracture of both greater horns of the hyoid bone and a fracture of both superior horns of the thyroid cartilage. The cause of death was exsanguination into right half of the thoracic cavity from the left subclavian artery which was cut, on the spot of stab wound in the neck. Conclusion: Hemorrhage in the soft tissue near broken hyoid bone and thyroid cartilage indicate that the victim was first strangulated and then stabbed with kitchen knives. Combined homicides are caused by one or more killers in order to accelerate the killing, or to be sure to provide the fatal outcome. This case is also interesting because the killer left weapon in the victim's neck.

  16. Combined analysis of six lipoprotein lipase genetic variants on triglycerides, high-density lipoprotein, and ischemic heart disease: cross-sectional, prospective, and case-control studies from the Copenhagen City Heart Study

    DEFF Research Database (Denmark)

    Wittrup, HH; Andersen, RV; Tybjærg-Hansen, A

    2006-01-01

    CONTEXT: Genetic variants in lipoprotein lipase may affect triglycerides, high-density lipoprotein (HDL), and risk of ischemic heart disease (IHD). OBJECTIVE: The objective of this study was to investigate the influence of T(-93)G, G(-53)C, Asp9Asn, Gly188Glu, Asn291Ser, and Ser447Ter lipoprotein...... lipase genotypes on triglycerides, HDL, and IHD. DESIGN: The cross-sectional study involved 9004 adults. The prospective study consisted of 8817 adults developing 1001 IHD events over 23 yr. The case-control study involved 7818 non-IHD individuals vs. cohorts of 915 and 1062 IHD patients, respectively....... SETTING: The study was performed in the Danish general population (the Copenhagen City Heart Study). PARTICIPANTS: IHD was angina pectoris or myocardial infarction. MAIN OUTCOME MEASURES: Triglycerides, HDL, and IHD were the main outcome measures. RESULTS: Cross-sectionally, triglycerides varied...

  17. Genetically Modified Organisms

    Directory of Open Access Journals (Sweden)

    Claro Llaguno

    2001-06-01

    Full Text Available Recent reports have brought to public attention concerns about Bt corn and genetically modified organisms (GMO in general. The timing, it seems, is most appropriate considering two related developments early this year: the final approval of the Cartagena Protocol on Biosafety in Montreal on January 29, 2001, and the OECD Edinburgh Conference on GM food safety last February 28- March 1, 2001. The protocol makes clear that GMOs include all living modified organisms (LMO defined as "any living organism that possesses a novel combination of genetic material obtained through the use of modern biotechnology". This includes seeds, live fish, and other organisms intentionally obtained for release to the environment. It would seem that the common understanding about GMOs as referring to farm-to-table products is perforce expanded to embrace genetically modified farm animals and aquatic resources. Being a trade agreement, the Montreal accord primarily deals with the safety issues related to the transboundary movement of LMOs around the globe. The OECD conference on the other hand, called for an international body "to address all sides of the GM debate" in response to the public outcry, particularly in Western Europe, regarding the risks the new products pose to human health and the environment. Some points of contention, which remain unresolved, include issues such as whether countries should be allowed to develop their own GM food based on their needs, and whether a global moratorium on GMOs and mandatory labeling should be enforced worldwide.

  18. Molecular genetics

    International Nuclear Information System (INIS)

    Kubitschek, H.E.

    1975-01-01

    Progress is reported on studies on the nature and action of lethal and mutagenic lesions in DNA and the mechanisms by which these are produced in bacteria by ionizing radiation or by decay of radioisotopes incorporated in DNA. Studies of radioisotope decay provide the advantages that the original lesion is localized in the genetic material and the immediate physical and chemical changes that occur at decay are known. Specific types of DNA damage were related to characteristic decay properties of several radioisotopes. Incorporated 125 I, for example, induces a double-stranded break in DNA with almost every decay, but causes remarkably little damage of any other kind to the DNA. (U.S.)

  19. Genetic diversity among farmer-preferred cassava landraces in ...

    African Journals Online (AJOL)

    Understanding of genetic diversity among a breeding population is an important requirement for crop improvement as it allows for the selection of diverse parental combinations and formation of heterotic pools for genetic gain. This study was carried out to determine genetic diversity within and among 51 farmer-preferred ...

  20. Metabolomics of Genetically Modified Crops

    Directory of Open Access Journals (Sweden)

    Carolina Simó

    2014-10-01

    Full Text Available Metabolomic-based approaches are increasingly applied to analyse genetically modified organisms (GMOs making it possible to obtain broader and deeper information on the composition of GMOs compared to that obtained from traditional analytical approaches. The combination in metabolomics of advanced analytical methods and bioinformatics tools provides wide chemical compositional data that contributes to corroborate (or not the substantial equivalence and occurrence of unintended changes resulting from genetic transformation. This review provides insight into recent progress in metabolomics studies on transgenic crops focusing mainly in papers published in the last decade.

  1. Metabolomics of Genetically Modified Crops

    Science.gov (United States)

    Simó, Carolina; Ibáñez, Clara; Valdés, Alberto; Cifuentes, Alejandro; García-Cañas, Virginia

    2014-01-01

    Metabolomic-based approaches are increasingly applied to analyse genetically modified organisms (GMOs) making it possible to obtain broader and deeper information on the composition of GMOs compared to that obtained from traditional analytical approaches. The combination in metabolomics of advanced analytical methods and bioinformatics tools provides wide chemical compositional data that contributes to corroborate (or not) the substantial equivalence and occurrence of unintended changes resulting from genetic transformation. This review provides insight into recent progress in metabolomics studies on transgenic crops focusing mainly in papers published in the last decade. PMID:25334064

  2. Considerations on Fail Safe Design for Design Basis Accident (DBA) vs. Design Extension Condition (DEC): Lesson Learnt from the Fukushima Accident

    International Nuclear Information System (INIS)

    Ha, Jun Su; Kim, Sungyeop

    2014-01-01

    The fail safety design is referred to as an inherently safe design concept where the failure of an SSC (System, Structure or Component) leads directly to a safe condition. Usually the fail safe design has been devised based on the design basis accident (DBAs), because the nuclear safety has been assured by securing the capability to safely cope with DBAs. Currently regards have been paid to the DEC (Design Extension Condition) as an extended design consideration. Hence additional attention should be paid to the concept of the fail safe design in order to consider the DEC, accordingly. In this study, a case chosen from the Fukushima accident is studied to discuss the issue associated with the fail safe design in terms of DBA and DEC standpoints. For the fail safe design to be based both on the DBA and the DEC, a Mode Changeable Fail Safe Design (MCFSD) is proposed in this study. Additional discussions on what is needed for the MCFSD to be applied in the nuclear safety are addressed as well. One of the lessons learnt from the Fukushima accident should include considerations on the fail-safe design in a changing regulatory framework. Currently the design extension condition (DEC) including severe accidents should be considered during designing and licensing NPPs. Hence concepts on the fail safe design need to be changed to be based on not only the DBA but also the DEC. In this study, a case on a fail-safe design chosen from the Fukushima accident is studied to discuss the issue associated with the fail safe design in terms of DBA and DEC conditions. For the fail safe design to be based both on the DBA and the DEC, a Mode Changeable Fail Safe Design (MCFSD) is proposed in this study. Additional discussions on what is needed for the MCFSD to be applied in the nuclear safety are addressed as well

  3. RADVAN: a randomised phase 2 trial of WBRT plus vandetanib for melanoma brain metastases – results and lessons learnt

    Science.gov (United States)

    Gupta, Avinash; Roberts, Corran; Tysoe, Finn; Goff, Matthew; Nobes, Jenny; Lester, James; Marshall, Ernie; Corner, Carie; Wolstenholme, Virginia; Kelly, Charles; Wise, Adelyn; Collins, Linda; Love, Sharon; Woodward, Martha; Salisbury, Amanda; Middleton, Mark R

    2016-01-01

    Background: Brain metastases occur in up to 75% of patients with advanced melanoma. Most are treated with whole-brain radiotherapy (WBRT), with limited effectiveness. Vandetanib, an inhibitor of vascular endothelial growth factor receptor, epidermal growth factor receptor and rearranged during transfection tyrosine kinases, is a potent radiosensitiser in xenograft models. We compared WBRT with WBRT plus vandetanib in the treatment of patients with melanoma brain metastases. Methods: In this double-blind, multi-centre, phase 2 trial patients with melanoma brain metastases were randomised to receive WBRT (30 Gy in 10 fractions) plus 3 weeks of concurrent vandetanib 100 mg once daily or placebo. The primary endpoint was progression-free survival in brain (PFS brain). The main study was preceded by a safety run-in phase to confirm tolerability of the combination. A post-hoc analysis and literature review considered barriers to recruiting patients with melanoma brain metastases to clinical trials. Results: Twenty-four patients were recruited, six to the safety phase and 18 to the randomised phase. The study closed early due to poor recruitment. Median PFS brain was 3.3 months (90% confidence interval (CI): 1.6–5.6) in the vandetanib group and 2.5 months (90% CI: 0.2–4.8) in the placebo group (P=0.34). Median overall survival (OS) was 4.6 months (90% CI: 1.6–6.3) and 2.5 months (90% CI: 0.2–7.2), respectively (P=0.54). The most frequent adverse events were fatigue, alopecia, confusion and nausea. The most common barrier to study recruitment was availability of alternative treatments. Conclusions: The combination of WBRT plus vandetanib was well tolerated. Compared with WBRT alone, there was no significant improvement in PFS brain or OS, although we are unable to provide a definitive result due to poor accrual. A review of barriers to trial accrual identified several factors that affect study recruitment in this difficult disease area. PMID:27711083

  4. RADVAN: a randomised phase 2 trial of WBRT plus vandetanib for melanoma brain metastases - results and lessons learnt.

    Science.gov (United States)

    Gupta, Avinash; Roberts, Corran; Tysoe, Finn; Goff, Matthew; Nobes, Jenny; Lester, James; Marshall, Ernie; Corner, Carie; Wolstenholme, Virginia; Kelly, Charles; Wise, Adelyn; Collins, Linda; Love, Sharon; Woodward, Martha; Salisbury, Amanda; Middleton, Mark R

    2016-11-08

    Brain metastases occur in up to 75% of patients with advanced melanoma. Most are treated with whole-brain radiotherapy (WBRT), with limited effectiveness. Vandetanib, an inhibitor of vascular endothelial growth factor receptor, epidermal growth factor receptor and rearranged during transfection tyrosine kinases, is a potent radiosensitiser in xenograft models. We compared WBRT with WBRT plus vandetanib in the treatment of patients with melanoma brain metastases. In this double-blind, multi-centre, phase 2 trial patients with melanoma brain metastases were randomised to receive WBRT (30 Gy in 10 fractions) plus 3 weeks of concurrent vandetanib 100 mg once daily or placebo. The primary endpoint was progression-free survival in brain (PFS brain). The main study was preceded by a safety run-in phase to confirm tolerability of the combination. A post-hoc analysis and literature review considered barriers to recruiting patients with melanoma brain metastases to clinical trials. Twenty-four patients were recruited, six to the safety phase and 18 to the randomised phase. The study closed early due to poor recruitment. Median PFS brain was 3.3 months (90% confidence interval (CI): 1.6-5.6) in the vandetanib group and 2.5 months (90% CI: 0.2-4.8) in the placebo group (P=0.34). Median overall survival (OS) was 4.6 months (90% CI: 1.6-6.3) and 2.5 months (90% CI: 0.2-7.2), respectively (P=0.54). The most frequent adverse events were fatigue, alopecia, confusion and nausea. The most common barrier to study recruitment was availability of alternative treatments. The combination of WBRT plus vandetanib was well tolerated. Compared with WBRT alone, there was no significant improvement in PFS brain or OS, although we are unable to provide a definitive result due to poor accrual. A review of barriers to trial accrual identified several factors that affect study recruitment in this difficult disease area.

  5. QTL mapping for combining ability in different population-based ...

    Indian Academy of Sciences (India)

    2013-12-13

    Dec 13, 2013 ... ability and for geneticists to research the genetic basis of combining ability. [Li L., Sun C., ... population-based NCII designs by a simulation study. J. Genet. ... combining ability could also be applied to other population- based NCII ... was to estimate how different base populations, sample sizes, heritability ...

  6. Development of a combined canine distemper virus specific RT-PCR protocol for the differentiation of infected and vaccinated animals (DIVA) and genetic characterization of the hemagglutinin gene of seven Chinese strains demonstrated in dogs.

    Science.gov (United States)

    Yi, Li; Cheng, Shipeng; Xu, Hongli; Wang, Jianke; Cheng, Yuening; Yang, Shen; Luo, Bin

    2012-01-01

    A combined reverse-transcription polymerase chain reaction (RT-PCR) method was developed for the detection and differentiation of wild-type and vaccine strains of the canine distemper virus (CDV). A pair of primers (P1/P2) was used to detect both CDV wild-type strains and vaccines. Another pair (P3/P4) was used to detect only CDV wild-type strains. A 335bp fragment was amplified from the genomic RNA of the vaccine and wild-type strains. A 555bp fragment was amplified specifically from the genomic RNA of the wild-type strains. No amplification was achieved for the uninfected cells, cells infected with canine parvovirus, canine coronavirus, or canine adenovirus. The combined RT-PCR method detected effectively and differentiated the CDV wild-type and vaccine strains by two separate RT-PCRs. The method can be used for clinical detection and epidemiological surveillance. The phylogenetic analysis of the hemagglutinin gene of the local wild-type CDV strains revealed that the seven local isolates all belonged to the Asia-1 lineage, and were clustered closely with one another at the same location. These results suggested that the CDV genotype Asia-1 is circulating currently in domestic dogs in China. Copyright © 2011 Elsevier B.V. All rights reserved.

  7. A combined classical genetic and high resolution two-dimensional electrophoretic approach to the assessment of the number of genes affecting hybrid male sterility in Drosophila simulans and Drosophila sechellia.

    Science.gov (United States)

    Zeng, L W; Singh, R S

    1993-09-01

    We have attempted to estimate the number of genes involved in postzygotic reproductive isolation between two closely related species, Drosophila simulans and Drosophila sechellia, by a novel approach that involves the use of high resolution two-dimensional gel electrophoresis (2DE) to examine testis proteins in parents, hybrids and fertile and sterile backcross progenies. The important results that have emerged from this study are as follows: (1) about 8% of about 1000 proteins examined showed divergence (presence/absence) between the two species; (2) by tracing individual proteins in parental, hybrid and backcross males, we were able to associate the divergent proteins with different chromosomes and found that most divergent proteins are associated with autosomes and very few with X chromosome, Y chromosome and cytoplasm; (3) when proteins showing both quantitative and qualitative differences between the two species were examined in F1 hybrid males, most (97.4%) proteins were expressed at levels between the two parents and no sign of large scale changes in spot density was observed. All the proteins observed in the two parental species were present in F1 hybrid males except two species-specific proteins that may be encoded (or regulated) by sex chromosomes; (4) when different fertile and sterile backcross male testes were compared, a few D. sechellia-specific proteins were identified to be consistently associated with male sterility. These results along with the observation that a large proportion (23.6%) of first generation backcross males were fertile show that hybrid male sterility between D. simulans and D. sechellia involves a relatively small number of genes. Role of large scale genetic changes due to general genome incompatibility is not supported. The results also suggest that the large effect of X chromosome on hybrid male sterility is not due to higher divergence of X chromosome than autosomes.

  8. Determination of the carbon footprint of all Galician production and consumption activities: Lessons learnt and guidelines for policymakers.

    Science.gov (United States)

    Roibás, Laura; Loiseau, Eléonore; Hospido, Almudena

    2017-08-01

    Galicia is an Autonomous Community located in the north-west of Spain. As a starting point to implement mitigation and adaptation measures to climate change, a regional greenhouse gas (GHG) inventory is needed. So far, the only regional GHG inventories available are limited to the territorial emissions of those production activities which are expected to cause major environmental degradation. An alternative approach has been followed here to quantify all the on-site (direct) and embodied (indirect) GHG emissions related to all Galician production and consumption activities. The carbon footprint (CF) was calculated following the territorial life cycle assessment (LCA) methodology for data collection, that combines bottom-up and top-down approaches. The most up-to-date statistical data and life cycle inventories available were used to compute all GHG emissions. This case study represents a leap of scale when compared to existing studies, thus addressing the issue of double counting, which arises when considering all the production activities of a large region. The CF of the consumption activities in Galicia is 17.8 ktCO 2 e/year, with 88% allocated to Galician inhabitants and 12% to tourist consumption. The proposed methodology also identifies the main important contributors to GHG emissions and shows where regional reduction efforts should be made. The major contributor to the CF of inhabitants is housing (32%), followed by food consumption (29%). Within the CF of tourist consumption, the share of transport is highest (59%), followed by housing (26%). The CF of Galician production reaches 34.9 MtCO 2 e/y, and its major contributor is electricity production (21%), followed by food manufacturing (19%). Our results have been compared to those reported for other regions, actions aimed at reducing GHG emissions have been proposed, and data gaps and limitations identified. Copyright © 2017 Elsevier Ltd. All rights reserved.

  9. Genetics and Rheumatic Disease

    Science.gov (United States)

    ... Well with Rheumatic Disease Genetics and Rheumatic Disease Genetics and Rheumatic Disease Fast Facts Studying twins has ... 70%, and for non-identical pairs, even lower. Genetics and ankylosing spondylitis Each rheumatic disease has its ...

  10. Genetic programming in microorganisms

    Energy Technology Data Exchange (ETDEWEB)

    Hopwood, D A

    1981-11-01

    Formerly, when microbiologists had only existing organisms at their disposal whose characteristics could only be changed randomly by genetic experiments, they used to dream of programmed genetic changes. This dream has come true with modern genetic engineering.

  11. Analyzing implementation dynamics using theory-driven evaluation principles: lessons learnt from a South African centralized chronic dispensing model.

    Science.gov (United States)

    Magadzire, Bvudzai Priscilla; Marchal, Bruno; Mathys, Tania; Laing, Richard O; Ward, Kim

    2017-12-04

    Centralized dispensing of essential medicines is one of South Africa's strategies to address the shortage of pharmacists, reduce patients' waiting times and reduce over-crowding at public sector healthcare facilities. This article reports findings of an evaluation of the Chronic Dispensing Unit (CDU) in one province. The objectives of this process evaluation were to: (1) compare what was planned versus the actual implementation and (2) establish the causal elements and contextual factors influencing implementation. This qualitative study employed key informant interviews with the intervention's implementers (clinicians, managers and the service provider) [N = 40], and a review of policy and program documents. Data were thematically analyzed by identifying the main influences shaping the implementation process. Theory-driven evaluation principles were applied as a theoretical framework to explain implementation dynamics. The overall participants' response about the CDU was positive and the majority of informants concurred that the establishment of the CDU to dispense large volumes of medicines is a beneficial strategy to address healthcare barriers because mechanical functions are automated and distribution of medicines much quicker. However, implementation was influenced by the context and discrepancies between planned activities and actual implementation were noted. Procurement inefficiencies at central level caused medicine stock-outs and affected CDU activities. At the frontline, actors were aware of the CDU's implementation guidelines regarding patient selection, prescription validity and management of non-collected medicines but these were adapted to accommodate practical realities and to meet performance targets attached to the intervention. Implementation success was a result of a combination of 'hardware' (e.g. training, policies, implementation support and appropriate infrastructure) and 'software' (e.g. ownership, cooperation between healthcare

  12. Genetic determinants of common epilepsies

    DEFF Research Database (Denmark)

    2014-01-01

    and insufficient power. We aimed to identify risk loci through meta-analyses of genome-wide association studies for all epilepsy and the two largest clinical subtypes (genetic generalised epilepsy and focal epilepsy). METHODS: We combined genome-wide association data from 12 cohorts of individuals with epilepsy...... not previously implicated in epilepsy and provides further evidence about the genetic architecture of these disorders, with the ultimate aim of assisting in disease classification and prognosis. The data suggest that specific loci can act pleiotropically raising risk for epilepsy broadly, or can have effects...... and controls from population-based datasets. Controls were ethnically matched with cases. We phenotyped individuals with epilepsy into categories of genetic generalised epilepsy, focal epilepsy, or unclassified epilepsy. After standardised filtering for quality control and imputation to account for different...

  13. Genetic influences on political ideologies

    DEFF Research Database (Denmark)

    Hatemi, Peter K; Medland, Sarah E; Klemmensen, Robert

    2014-01-01

    Almost 40 years ago, evidence from large studies of adult twins and their relatives suggested that between 30 and 60 % of the variance in social and political attitudes could be explained by genetic influences. However, these findings have not been widely accepted or incorporated into the dominant...... paradigms that explain the etiology of political ideology. This has been attributed in part to measurement and sample limitations, as well the relative absence of molecular genetic studies. Here we present results from original analyses of a combined sample of over 12,000 twins pairs, ascertained from nine...... different studies conducted in five democracies, sampled over the course of four decades. We provide evidence that genetic factors play a role in the formation of political ideology, regardless of how ideology is measured, the era, or the population sampled. The only exception is a question that explicitly...

  14. Genetics of SCID

    Directory of Open Access Journals (Sweden)

    Cossu Fausto

    2010-11-01

    Full Text Available Abstract Human SCID (Severe Combined Immunodeficiency is a prenatal disorder of T lymphocyte development, that depends on the expression of numerous genes. The knowledge of the genetic basis of SCID is essential for diagnosis (e.g., clinical phenotype, lymphocyte profile and treatment (e.g., use and type of pre-hematopoietic stem cell transplant conditioning. Over the last years novel genetic defects causing SCID have been discovered, and the molecular and immunological mechanisms of SCID have been better characterized. Distinct forms of SCID show both common and peculiar (e.g., absence or presence of nonimmunological features aspects, and they are currently classified into six groups according to prevalent pathophysiological mechanisms: impaired cytokine-mediated signaling; pre-T cell receptor defects; increased lymphocyte apoptosis; defects in thymus embryogenesis; impaired calcium flux; other mechanisms. This review is the updated, extended and largely modified translation of the article "Cossu F: Le basi genetiche delle SCID", originally published in Italian language in the journal "Prospettive in Pediatria" 2009, 156:228-238.

  15. Evaluation of the present genetic conservation efforts in Pinus sylvestris, Picea abies, Quercus spp., Fagus sylvatica, and Pinus pinaster

    NARCIS (Netherlands)

    Kramer, K.

    2015-01-01

    Information on genetic diversity and gene conservation activities were combined with climatic data to evaluate the present genetic conservation efforts in Pinus sylvestris, Picea abies, Quercus spp., Fagus sylvatica, and Pinus pinaster. Combinations of climatic variables explained much of the

  16. Some Lessons Learnt From the Fukushima Daiichi Accident, as Regards Defence in Depth and its Implementation in New or Existing Designs – An Industry Example

    Energy Technology Data Exchange (ETDEWEB)

    De L’Epinois, B.; Bouteille, F.; Nicaise, N., E-mail: bertrand.delepinois@areva.com [AREVA, Paris (France)

    2014-10-15

    reducing both the severe accident probability and the consequences of a severe accident, should it occur. This paper therefore analyzes, in the light of Fukushima, the DiD approach followed in the design of the EPR and ATMEA reactors in terms of accident prevention, common mode failure prevention and mitigation, protection against natural hazards and severe accident management. Insight is given, from a designer point of view, on the topics on which the Fukushima lessons learnt are implemented. The paper also exposes to what extent and in which fields the approach followed for new reactors can be applied to operating nuclear power plants. (author)

  17. Improvement of FK506 Production in the High-Yielding Strain Streptomyces sp. RM7011 by Engineering the Supply of Allylmalonyl-CoA Through a Combination of Genetic and Chemical Approach.

    Science.gov (United States)

    Mo, SangJoon; Lee, Sung-Kwon; Jin, Ying-Yu; Suh, Joo-Won

    2016-02-01

    FK506, a widely used immunosuppressant, is a 23-membered polyketide macrolide that is produced by several Streptomyces species. FK506 high-yielding strain Streptomyces sp. RM7011 was developed from the discovered Streptomyces sp. KCCM 11116P by random mutagenesis in our previous study. The results of transcript expression analysis showed that the transcription levels of tcsA, B, C, and D were increased in Streptomyces sp. RM7011 by 2.1-, 3.1-, 3.3-, and 4.1- fold, respectively, compared with Streptomyces sp. KCCM 11116P. The overexpression of tcsABCD genes in Streptomyces sp. RM7011 gave rise to approximately 2.5-fold (238.1 μg/ml) increase in the level of FK506 production compared with that of Streptomyces sp. RM7011. When vinyl pentanoate was added into the culture broth of Streptomyces sp. RM7011, the level of FK506 production was approximately 2.2-fold (207.7 μg/ml) higher than that of the unsupplemented fermentation. Furthermore, supplementing the culture broth of Streptomyces sp. RM7011 expressing tcsABCD genes with vinyl pentanoate resulted in an additional 1.7-fold improvement in the FK506 titer (498.1 μg/ml) compared with that observed under nonsupplemented condition. Overall, the level of FK506 production was increased approximately 5.2-fold by engineering the supply of allylmalonyl-CoA in the high-yielding strain Streptomyces sp. RM7011, using a combination of overexpressing tcsABCD genes and adding vinyl pentanoate, as compared with Streptomyces sp. RM7011 (95.3 μg/ml). Moreover, among the three precursors analyzed, pentanoate was the most effective precursor, supporting the highest titer of FK506 in the FK506 high-yielding strain Streptomyces sp. RM7011.

  18. Inspirations in medical genetics.

    Science.gov (United States)

    Asadollahi, Reza

    2016-02-01

    There are abundant instances in the history of genetics and medical genetics to illustrate how curiosity, charisma of mentors, nature, art, the saving of lives and many other matters have inspired great discoveries. These achievements from deciphering genetic concepts to characterizing genetic disorders have been crucial for management of the patients. There remains, however, a long pathway ahead. © The Author(s) 2014.

  19. What Is Genetic Ancestry Testing?

    Science.gov (United States)

    ... What is genetic ancestry testing? What is genetic ancestry testing? Genetic ancestry testing, or genetic genealogy, is ... with other groups. For more information about genetic ancestry testing: The University of Utah provides video tutorials ...

  20. Assessment of genetic integrity, splenic phagocytosis and cell death potential of (Z-4-((1,5-dimethyl-3-oxo-2-phenyl-2,3dihydro-1H-pyrazol-4-yl amino-4-oxobut-2-enoic acid and its effect when combined with commercial chemotherapeutics

    Directory of Open Access Journals (Sweden)

    Rodrigo Juliano Oliveira

    2018-02-01

    Full Text Available Abstract The increased incidence of cancer and its high treatment costs have encouraged the search for new compounds to be used in adjuvant therapies for this disease. This study discloses the synthesis of (Z-4-((1,5-dimethyl-3-oxo-2-phenyl-2,3dihydro-1H-pyrazol-4-yl amino-4-oxobut-2-enoic acid (IR-01 and evaluates not only the action of this compound on genetic integrity, increase in splenic phagocytosis and induction of cell death but also its effects in combination with the commercial chemotherapeutic agents doxorubicin, cisplatin and cyclophosphamide. IR-01 was designed and synthesized based on two multifunctionalyzed structural fragments: 4-aminoantipyrine, an active dipyrone metabolite, described as an antioxidant and anti-inflammatory agent; and the pharmacophore fragment 1,4-dioxo-2-butenyl, a cytotoxic agent. The results indicated that IR-01 is an effective chemoprotector because it can prevent clastogenic and/or aneugenic damage, has good potential to prevent genomic damage, can increase splenic phagocytosis and lymphocyte frequency and induces cell death. However, its use as an adjuvant in combination with chemotherapy is discouraged since IR-01 interferes in the effectiveness of the tested chemotherapeutic agents. This is a pioneer study as it demonstrates the chemopreventive effects of IR-01, which may be associated with the higher antioxidant activity of the precursor structure of 4-aminoantipyrine over the effects of the 1,4-dioxo-2-butenyl fragment.

  1. Identifying future research needs in landscape genetics: Where to from here?

    Science.gov (United States)

    Niko Balkenhol; Felix Gugerli; Sam A. Cushman; Lisette P. Waits; Aurelie Coulon; J. W. Arntzen; Rolf Holderegger; Helene H. Wagner

    2009-01-01

    Landscape genetics is an emerging interdisciplinary field that combines methods and concepts from population genetics, landscape ecology, and spatial statistics. The interest in landscape genetics is steadily increasing, and the field is evolving rapidly. We here outline four major challenges for future landscape genetic research that were identified during an...

  2. Adaptive sensor fusion using genetic algorithms

    International Nuclear Information System (INIS)

    Fitzgerald, D.S.; Adams, D.G.

    1994-01-01

    Past attempts at sensor fusion have used some form of Boolean logic to combine the sensor information. As an alteniative, an adaptive ''fuzzy'' sensor fusion technique is described in this paper. This technique exploits the robust capabilities of fuzzy logic in the decision process as well as the optimization features of the genetic algorithm. This paper presents a brief background on fuzzy logic and genetic algorithms and how they are used in an online implementation of adaptive sensor fusion

  3. "Genetic exceptionalism" in medicine: clarifying the differences between genetic and nongenetic tests.

    Science.gov (United States)

    Green, Michael J; Botkin, Jeffrey R

    2003-04-01

    Predictive genetic tests are now available for assessing susceptibility to a variety of conditions, including breast and colon cancer, hemochromatosis, and Alzheimer and Huntington disease. Much controversy surrounds the application of these tests, stemming from their similarities to and differences from other tests commonly used in asymptomatic persons. Some have argued that genetic tests are unique and therefore justify special consideration with regard to informed consent and privacy. This paper examines the arguments for such "genetic exceptionalism" and concludes that no clear, significant distinctions between genetic and nongenetic tests justify a different approach to testing by clinicians. Nevertheless, with many genetic tests, the results may cause stigmatization, family discord, and psychological distress. Regardless of whether a test is genetic, when this combination of characteristics is present and when health care providers are not specifically trained to interpret results, testing should be performed with particular caution and the highest standards of informed consent and privacy protection should be applied.

  4. Lessons Learnt From Hurricane Katrina.

    Science.gov (United States)

    Akundi, Murty

    2008-03-01

    Hurricane Katrina devastated New Orleans and its suburbs on Monday August 29^th, 2005. The previous Friday morning, August 26, the National Hurricane Center indicated that Katrina was a Category One Hurricane, which was expected to hit Florida. By Friday afternoon, it had changed its course, and neither the city nor Xavier University was prepared for this unexpected turn in the hurricane's path. The university had 6 to 7 ft of water in every building and Xavier was closed for four months. Students and university personnel that were unable to evacuate were trapped on campus and transportation out of the city became a logistical nightmare. Email and all electronic systems were unavailable for at least a month, and all cell phones with a 504 area code stopped working. For the Department, the most immediate problem was locating faculty and students. Xavier created a list of faculty and their new email addresses and began coordinating with faculty. Xavier created a web page with advice for students, and the chair of the department created a separate blog with contact information for students. The early lack of a clear method of communication made worse the confusion and dismay among the faculty on such issues as when the university would reopen, whether the faculty would be retained, whether they should seek temporary (or permanent) employment elsewhere, etc. With the vision and determination of President Dr. Francis, Xavier was able to reopen the university in January and ran a full academic year from January through August. Since Katrina, the university has asked every department and unit to prepare emergency preparedness plans. Each department has been asked to collect e-mail addresses (non-Xavier), cell phone numbers and out of town contact information. The University also established an emergency website to communicate. All faculty have been asked to prepare to teach classes electronically via Black board or the web. Questions remain about the longer term issues of the size and stability of the faculty.

  5. 'Treat to Target' - Lessons Learnt.

    Science.gov (United States)

    Kurti, Zsuzsanna; Vegh, Zsuzsanna; Golovics, Petra Anna; Lakatos, Peter Laszlo

    2016-01-01

    Therapeutic management in inflammatory bowel diseases (IBD) has significantly changed in the last decades with the advent of biological therapy resulting in new treatment targets other than clinical symptoms. Patient stratification in the early stage of the disease is an important step to identify patients with poor prognosis, who might benefit from early aggressive treatment to avoid complications in the later disease course. Recent randomized and hypothesis driven (e.g., Randomized Evaluation of an Algorithm for Crohn's Treatment, Post-Operative Crohn's Endoscopic Recurrence) clinical trials conducted in the biological era underscore the need of objective disease monitoring including assessment of biomarkers (e.g., C-reactive protein and calprotectin), mucosal healing and, for biologically treated patients, therapeutic drug monitoring beside clinical symptom assessment in both Crohn's disease and ulcerative colitis. Assessing the treatment efficacy objectively has become an important element of patient monitoring besides clinical symptom assessment. Further clinical studies are needed to assess whether implementation of new therapeutic algorithms based on these targets and tight monitoring in clinical practice have the potential to further improve long-term disease outcomes in IBD. © 2016 S. Karger AG, Basel.

  6. Exploration of the Hypothalamic-Pituitary-Adrenal Axis to Improve Animal Welfare by Means of Genetic Selection: Lessons from the South African Merino

    Directory of Open Access Journals (Sweden)

    Schalk Cloete

    2013-05-01

    Full Text Available It is a difficult task to improve animal production by means of genetic selection, if the environment does not allow full expression of the animal’s genetic potential. This concept may well be the future for animal welfare, because it highlights the need to incorporate traits related to production and robustness, simultaneously, to reach sustainable breeding goals. This review explores the identification of potential genetic markers for robustness within the hypothalamic-pituitary-adrenal axis (HPAA, since this axis plays a vital role in the stress response. If genetic selection for superior HPAA responses to stress is possible, then it ought to be possible to breed robust and easily managed genotypes that might be able to adapt to a wide range of environmental conditions whilst expressing a high production potential. This approach is explored in this review by means of lessons learnt from research on Merino sheep, which were divergently selected for their multiple rearing ability. These two selection lines have shown marked differences in reproduction, production and welfare, which makes this breeding programme ideal to investigate potential genetic markers of robustness. The HPAA function is explored in detail to elucidate where such genetic markers are likely to be found.

  7. Application of medical cases in general genetics teaching in universities.

    Science.gov (United States)

    He, Zhumei; Bie, Linsai; Li, Wei

    2018-01-20

    General genetics is a core course in life sciences, medicine, agriculture and other related fields. As one of the most fast-developing disciplines of life sciences in the 21th century, the influence of the genetics knowledge on daily life is expanding, especially on human health and reproduction. In order to make it easier for students to understand the profound principles of genetics and to better apply the theories to daily life, we have introduced appropriate medical cases in general genetics teaching and further extended them combined with theoretical basis of genetics. This approach will be beneficial to enhance students' abilities of genetic analysis and promote their enthusiasm to learn and master practical skills. In this paper, we enumerate medical cases related to the modern genetics teaching system to provide a reference for genetics teaching in general and normal universities.

  8. Generalizing genetical genomics: getting added value from environmental perturbation.

    Science.gov (United States)

    Li, Yang; Breitling, Rainer; Jansen, Ritsert C

    2008-10-01

    Genetical genomics is a useful approach for studying the effect of genetic perturbations on biological systems at the molecular level. However, molecular networks depend on the environmental conditions and, thus, a comprehensive understanding of biological systems requires studying them across multiple environments. We propose a generalization of genetical genomics, which combines genetic and sensibly chosen environmental perturbations, to study the plasticity of molecular networks. This strategy forms a crucial step toward understanding why individuals respond differently to drugs, toxins, pathogens, nutrients and other environmental influences. Here we outline a strategy for selecting and allocating individuals to particular treatments, and we discuss the promises and pitfalls of the generalized genetical genomics approach.

  9. The genetics of pigment dispersion syndrome and pigmentary glaucoma.

    Science.gov (United States)

    Lascaratos, Gerassimos; Shah, Ameet; Garway-Heath, David F

    2013-01-01

    We review the inheritance patterns and recent genetic advances in the study of pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG). Both conditions may result from combinations of mutations in more than one gene or from common variants in many genes, each contributing small effects. We discuss the currently known genetic loci that may be related with PDS/PG in humans, the role of animal models in expanding our understanding of the genetic basis of PDS, the genetic factors underlying the risk for conversion from PDS to PG and the relationship between genetic and environmental--as well as anatomical--risk factors. Copyright © 2013 Elsevier Inc. All rights reserved.

  10. Process, practice and priorities — key lessons learnt undertaking sensitive social reconnaissance research as part of an (UNESCO-IOC) International Tsunami Survey Team

    Science.gov (United States)

    van Zijll de Jong, Shona L.; Dominey-Howes, Dale; Roman, Carolina E.; Calgaro, Emma; Gero, Anna; Veland, Siri; Bird, Deanne K.; Muliaina, Tolu; Tuiloma-Sua, Dawn; Afioga, Taulagi Latu

    2011-07-01

    The 29 September 2009 South Pacific tsunami has had a lasting impact upon local coastal villages and global collaborative research efforts. Locally, the impact of the tsunami is one of the most severe disasters Samoa has experienced in the last several decades. Within one week of the event, 143 people died. Approximately 6000 traumatized men, women and children - terrified of the sea - refused to return to live or work in their rural, coastal villages, which in turn has had broad consequences for humanitarian emergency relief distribution networks and early recovery planning efforts. Researchers came from all over the world to participate in the UNESCO International Oceanographic Commission (IOC) Samoa International Tsunami Survey Team (ITST). Focusing on the need for interdisciplinary research, for the first time, a social impact assessment team (SIT) was expressly invited to participate. Within days of the tsunami, a group of Australian, New Zealand, American, Fijian, and Japanese disaster researchers began to discuss how they might develop a social science reconnaissance research plan using innovative approaches and best practice. This paper presents an overview of challenges faced by the social impact assessment team with a focus on lessons to be learnt from this experience. We discuss the need to clarify project boundaries, develop a core research agenda and project milestones, and develop day-to-day fieldwork work plans and at the same time be sensitive to the emotional needs of the interviewees as well as the researchers. We also make several practical suggestions for future social reconnaissance research with a set of recommendations to support disaster researchers as they plan their own research projects. The inclusion of a social impacts assessment group within a UNESCO-IOC ITST was a valuable response to the increasing need for responsible social research in sensitive topics of post-disaster analysis. Social scientists are aware that disaster social

  11. Genetic aspects of polydactyly.

    Science.gov (United States)

    Zguricas, J; Heutink, P; Heredero, L; Deurloo, J; Oostra, B A; Snijders, P J; Lindhout, D; Hovius, S E

    1996-07-01

    The early limb development follows the similar pattern in all vertebrates since different species develop using the same regulatory genes in the formation of the body plan. Some of these genes remained well conserved during evolution and can be traced back as far as Drosophila--while some others changed their structure or developed new functions. This is why the limbs from different animals still look different from one another. However, all existing tetrapods have, like Homo Sapiens, limbs with five, or fewer digits. It has been argued that the interplay of the factors controlling the patterning and differentiation during the embryonal limb development can provide five distinct "genotypes" allowing development of only five different digits. This would imply that the Greek definition of polydactyly, namely "duplication of the finger or a part of it", is correct, not only in morphological but also in a genetical sense. Genes involved in the determination of the outline of the limb are candidates for disorders like polydactyly and syndactyly. Recently, we have localised the gene for triphalangeal thumb (TPT) on chromosome 7q. As almost 50% of our patient population also had rudimentary postaxial polydactyly and/or syndactyly, the interesting question arose whether the TPT gene also was responsible for isolated post-axial polydactyly. Our preliminary evidence suggests, however, that different gene(s) are involved in the pathomorphogenesis of postaxial polydactyly. Studies of human congenital hand malformations--combined with genetic studies in lower vertebrates--will help us to understand not only the molecular basis of these disorders, but also to get insight into the fascinating mechanisms involved in the normal development of the human hand.

  12. Genetics Home Reference: SADDAN

    Science.gov (United States)

    ... view the expand/collapse boxes. Description SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a ... Genetic Testing (1 link) Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans Other Diagnosis ...

  13. Genetic Brain Disorders

    Science.gov (United States)

    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form ... mutation is a change in a gene. Genetic brain disorders affect the development and function of the ...

  14. Genetic Testing for ALS

    Science.gov (United States)

    ... genetic counselor can help you work through the pros and cons of genetic testing based on your ... showing symptoms or what their progression will be. Technology is changing rapidly and costs of testing are ...

  15. Genetically engineered foods

    Science.gov (United States)

    Bioengineered foods; GMOs; Genetically modified foods ... helps speed up the process of creating new foods with desired traits. The possible benefits of genetic engineering include: More nutritious food Tastier food Disease- and ...

  16. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

  17. Evaluating human genetic diversity

    National Research Council Canada - National Science Library

    This book assesses the scientific value and merit of research on human genetic differences--including a collection of DNA samples that represents the whole of human genetic diversity--and the ethical...

  18. Genetics Home Reference: osteopetrosis

    Science.gov (United States)

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... infantile neuroaxonal dystrophy Genetic Testing Registry: Osteopetrosis autosomal dominant type 1 Genetic Testing Registry: Osteopetrosis autosomal dominant ...

  19. Genetics and Man

    Science.gov (United States)

    Carter, C. O.

    1973-01-01

    Can genetic evolution be controlled by man in a manner which does not violate a civilized, humane, and democratic ethos? The genetics of health and illhealth and of normal variation are discussed with respect to this question. (PEB)

  20. Genetic Science Learning Center

    Science.gov (United States)

    Genetic Science Learning Center Making science and health easy for everyone to understand Home News Our Team What We Do ... Collaboration Conferences Current Projects Publications Contact The Genetic Science Learning Center at The University of Utah is a ...

  1. Genetics Home Reference: homocystinuria

    Science.gov (United States)

    ... an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture ( osteoporosis ) or other ... information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ...

  2. Protecting genetic privacy.

    Science.gov (United States)

    Roche, P A; Annas, G J

    2001-05-01

    This article outlines the arguments for and against new rules to protect genetic privacy. We explain why genetic information is different to other sensitive medical information, why researchers and biotechnology companies have opposed new rules to protect genetic privacy (and favour anti-discrimination laws instead), and discuss what can be done to protect privacy in relation to genetic-sequence information and to DNA samples themselves.

  3. Genetic Pathways to Insomnia

    OpenAIRE

    Mackenzie J. Lind; Philip R. Gehrman

    2016-01-01

    This review summarizes current research on the genetics of insomnia, as genetic contributions are thought to be important for insomnia etiology. We begin by providing an overview of genetic methods (both quantitative and measured gene), followed by a discussion of the insomnia genetics literature with regard to each of the following common methodologies: twin and family studies, candidate gene studies, and genome-wide association studies (GWAS). Next, we summarize the most recent gene identif...

  4. Osteogenesis imperfecta in combination with Graves disease

    Directory of Open Access Journals (Sweden)

    Marina S. Sheremeta

    2017-12-01

    Full Text Available Osteogenesis imperfecta (OI – is a group of genetically disorders, which are charaterized by a disturbed bone formation. In turn, the excess of thyroid hormones in Graves' disease (GD also posses a negative effect on bone tissue, thereby aggravating OI. That requires from the endocrinologist the most careful management of patients with the combination of these pathologies. In this article, we present a unique clinical case of a combination of GD and OI.

  5. The genetic difference principle.

    Science.gov (United States)

    Farrelly, Colin

    2004-01-01

    In the newly emerging debates about genetics and justice three distinct principles have begun to emerge concerning what the distributive aim of genetic interventions should be. These principles are: genetic equality, a genetic decent minimum, and the genetic difference principle. In this paper, I examine the rationale of each of these principles and argue that genetic equality and a genetic decent minimum are ill-equipped to tackle what I call the currency problem and the problem of weight. The genetic difference principle is the most promising of the three principles and I develop this principle so that it takes seriously the concerns of just health care and distributive justice in general. Given the strains on public funds for other important social programmes, the costs of pursuing genetic interventions and the nature of genetic interventions, I conclude that a more lax interpretation of the genetic difference principle is appropriate. This interpretation stipulates that genetic inequalities should be arranged so that they are to the greatest reasonable benefit of the least advantaged. Such a proposal is consistent with prioritarianism and provides some practical guidance for non-ideal societies--that is, societies that do not have the endless amount of resources needed to satisfy every requirement of justice.

  6. Phenylketonuria Genetic Screening Simulation

    Science.gov (United States)

    Erickson, Patti

    2012-01-01

    After agreeing to host over 200 students on a daylong genetics field trip, the author needed an easy-to-prepare genetics experiment to accompany the DNA-necklace and gel-electrophoresis activities already planned. One of the student's mothers is a pediatric physician at the local hospital, and she suggested exploring genetic-disease screening…

  7. Genetics Home Reference

    Science.gov (United States)

    ... Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email Facebook Twitter Genetics Home Reference provides consumer-friendly information about the effects of genetic variation on human health. Health Conditions More than 1,200 health ...

  8. Genetic Counseling for Diabetes Mellitus

    Science.gov (United States)

    Stein, Stephanie A.; Maloney, Kristin L.; Pollin, Toni I.

    2014-01-01

    Most diabetes is polygenic in etiology, with (type 1 diabetes, T1DM) or without (type 2 diabetes, T2DM) an autoimmune basis. Genetic counseling for diabetes generally focuses on providing empiric risk information based on family history and/or the effects of maternal hyperglycemia on pregnancy outcome. An estimated one to five percent of diabetes is monogenic in nature, e.g., maturity onset diabetes of the young (MODY), with molecular testing and etiology-based treatment available. However, recent studies show that most monogenic diabetes is misdiagnosed as T1DM or T2DM. While efforts are underway to increase the rate of diagnosis in the diabetes clinic, genetic counselors and clinical geneticists are in a prime position to identify monogenic cases through targeted questions during a family history combined with working in conjunction with diabetes professionals to diagnose and assure proper treatment and familial risk assessment for individuals with monogenic diabetes. PMID:25045596

  9. Genetics of Valvular Heart Disease

    Science.gov (United States)

    LaHaye, Stephanie; Lincoln, Joy

    2015-01-01

    Valvular heart disease is associated with significant morbidity and mortality and often the result of congenital malformations. However, the prevalence is increasing in adults not only because of the growing aging population, but also because of improvements in the medical and surgical care of children with congenital heart valve defects. The success of the Human Genome Project and major advances in genetic technologies, in combination with our increased understanding of heart valve development, has led to the discovery of numerous genetic contributors to heart valve disease. These have been uncovered using a variety of approaches including the examination of familial valve disease and genome-wide association studies to investigate sporadic cases. This review will discuss these findings and their implications in the treatment of valvular heart disease. PMID:24743897

  10. Feline genetics: clinical applications and genetic testing.

    Science.gov (United States)

    Lyons, Leslie A

    2010-11-01

    DNA testing for domestic cat diseases and appearance traits is a rapidly growing asset for veterinary medicine. Approximately 33 genes contain 50 mutations that cause feline health problems or alterations in the cat's appearance. A variety of commercial laboratories can now perform cat genetic diagnostics, allowing both the veterinary clinician and the private owner to obtain DNA test results. DNA is easily obtained from a cat via a buccal swab with a standard cotton bud or cytological brush, allowing DNA samples to be easily sent to any laboratory in the world. The DNA test results identify carriers of the traits, predict the incidence of traits from breeding programs, and influence medical prognoses and treatments. An overall goal of identifying these genetic mutations is the correction of the defect via gene therapies and designer drug therapies. Thus, genetic testing is an effective preventative medicine and a potential ultimate cure. However, genetic diagnostic tests may still be novel for many veterinary practitioners and their application in the clinical setting needs to have the same scrutiny as any other diagnostic procedure. This article will review the genetic tests for the domestic cat, potential sources of error for genetic testing, and the pros and cons of DNA results in veterinary medicine. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's internal genome. Copyright © 2010 Elsevier Inc. All rights reserved.

  11. Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis.

    Science.gov (United States)

    Sullivan-Pyke, Chantae; Dokras, Anuja

    2018-03-01

    Preimplantation genetic testing encompasses preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). PGS improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and resulting in a live birth. PGD enables the identification of embryos with specific disease-causing mutations and transfer of unaffected embryos. The development of whole genome amplification and genomic tools, including single nucleotide polymorphism microarrays, comparative genomic hybridization microarrays, and next-generation sequencing, has led to faster, more accurate diagnoses that translate to improved pregnancy and live birth rates. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. FY1995 establishment of extracellular matrix engineering by the combination of genetic engineering and polymer engineering and the application to super-bioartifical liver; 1995 nendo idenshi kogaku to kobunshi kogaku wo yugoshita atarashii saibogai matrix kogaku no sosei to super bio jinko zoki kaihatsu eno tenkai

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1996-03-01

    Cellular and tissue engineering for bioartificial organs need lots of information about extra-cellular matrices and cytokines network which play important roles for the regulation of cellular function. In order to develop high performance artificial livers, we made establishment of extracellular matrix (ECM) engineering by the combination of genetic engineering and polymer engineering. We designed a superglycoprotein-like polymer (PVLA) as a specific model ligand to asialoglycoprotein receptors (ASGP-R) on hepatocytes. Hepatocytes morphology was remarkably affected by PVLA concentration for coating on polystyrene dishes. In addition, hepatic functions such as differentiation and proliferation were closely related with cell morphology. Especially, round hepatocytes on the polystyrene surface coated with high concentration of PVLA were found to reconstruct 3D liver-like tissue stimulated by EGF. It turned out that the adsorptive states of PVLA polymeric micells can switch the function of EGF to be motogenic or mitogenic. The mechanisms of 3D-tissue formation on two types of substrata mediated by ASGP-R were examined. The proliferation and cell death (apoptosis) in hepatitis of hepatocytes were also examined in the viewpoint of cytokine network such as TNF - {alpha} and interferon-{gamma}. The highly efficient gene-transfection into hepatocytes was also successfully made using PVLA as ECM for cell attachment. As one of the trials to clarify liver cells society formation the mechanism of the final differentiation of kupffer cells and the role of HGF in embryonic construction of liver were successfully examined. (NEDO)

  13. Learning from nuclear regulatory self-assessment. International peer review of the CSN report on lessons learnt from the essential service water system degradation event at the Vandellos nuclear power plant

    International Nuclear Information System (INIS)

    2006-01-01

    Nuclear regulatory self-assessment together with the benchmarking of regulatory practices against those of other countries operating nuclear power plants are key elements in maintaining a high level of nuclear safety. In that light, the Spanish Consejo de Seguridad Nuclear (CSN) formally asked the OECD Nuclear Energy Agency (NEA) to establish an international peer review team to assess the CSN report on the lessons learnt as a result of the 2004 Vandellos II event involving essential service water system degradation. The International Review Team considers the CSN report prepared in follow-up to the Vandellos event to be a commendable effort in regulatory self-assessment. The report, complemented by this international peer review, should enable the CSN to take appropriate action to ensure that its regulatory supervision is in line with best international practice. (authors)

  14. What Is Genetic Ancestry Testing?

    Science.gov (United States)

    ... consumer genetic testing? What kinds of direct-to-consumer genetic tests are available? What is genetic ancestry testing? What are the benefits and risks of direct-to-consumer genetic testing? ...

  15. Prenatal Genetic Counseling (For Parents)

    Science.gov (United States)

    ... Videos for Educators Search English Español Prenatal Genetic Counseling KidsHealth / For Parents / Prenatal Genetic Counseling What's in ... can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating family ...

  16. All about Genetics (For Parents)

    Science.gov (United States)

    ... Videos for Educators Search English Español All About Genetics KidsHealth / For Parents / All About Genetics What's in ... the way they pick up special laboratory dyes. Genetic Problems Errors in the genetic code or "gene ...

  17. Association analysis of multiple traits by an approach of combining ...

    Indian Academy of Sciences (India)

    Lili Chen

    diseases. Joint analysis of multiple traits can increase statistical power of association analysis and uncover the underlying genetic ... genthaler and Thilly 2007), the combined multivariate and ... Because of using reverse regression model, our.

  18. Molecular genetics made simple

    Directory of Open Access Journals (Sweden)

    Heba Sh. Kassem

    2012-07-01

    Full Text Available Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients.

  19. Molecular genetics made simple

    Science.gov (United States)

    Kassem, Heba Sh.; Girolami, Francesca; Sanoudou, Despina

    2012-01-01

    Abstract Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients. PMID:25610837

  20. BPA genetic monitoring - BPA Genetic Monitoring Project

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Initiated in 1989, this study monitors genetic changes associated with hatchery propagation in multiple Snake River sub-basins for Chinook salmon and steelhead. We...

  1. Abandoning the common law: medical negligence, genetic tests and wrongful life in the Australian High Court.

    Science.gov (United States)

    Faunce, Thomas; Jefferys, Susannah

    2007-05-01

    The Australian High Court recently found that the common law could allow parents to claim tortious damages when medical negligence was proven to have led to the birth of an unplanned, but healthy, baby (Cattanach v Melchior (2003) 215 CLR 1). In Harriton v Stephens (2006) 80 ALJR 791; [2006] HCA 15 and Waller v James; Waller v Hoolahan (2006) 80 ALJR 846; [2006] HCA 16 the High Court in a six-to-one decision (Kirby J dissenting) decided that no such claim could be made by a child when medical negligence in failing to order an in utero genetic test caused the child severe disability. In an era when almost all pregnancies will soon require patented fetal genetic tests as part of the professional standard of care, the High Court, by barring so-called "wrongful life" (better termed "wrongful suffering") claims, may have created a partial immunity from suit for their corporate manufacturers and the doctors who administer them. What lessons can be learnt from this case about how the Australian High Court is, or should be, approaching medical negligence cases and its role as guardian of the Australian common law?

  2. Genetics and alcoholism.

    Science.gov (United States)

    Edenberg, Howard J; Foroud, Tatiana

    2013-08-01

    Alcohol is widely consumed; however, excessive use creates serious physical, psychological and social problems and contributes to the pathogenesis of many diseases. Alcohol use disorders (that is, alcohol dependence and alcohol abuse) are maladaptive patterns of excessive drinking that lead to serious problems. Abundant evidence indicates that alcohol dependence (alcoholism) is a complex genetic disease, with variations in a large number of genes affecting a person's risk of alcoholism. Some of these genes have been identified, including two genes involved in the metabolism of alcohol (ADH1B and ALDH2) that have the strongest known affects on the risk of alcoholism. Studies continue to reveal other genes in which variants affect the risk of alcoholism or related traits, including GABRA2, CHRM2, KCNJ6 and AUTS2. As more variants are analysed and studies are combined for meta-analysis to achieve increased sample sizes, an improved picture of the many genes and pathways that affect the risk of alcoholism will be possible.

  3. Genetic effects from internally deposited radionuclides

    International Nuclear Information System (INIS)

    Anon.

    1987-01-01

    It was learned in the late 1920's that ionizing radiation could produce genetic effects such as gene mutations and chromosome aberrations. However, at least until 1945, the focus on interest in radiation protection was primarily on somatic effects manifested in the individual exposed. Studies of the genetic effects of radiation using drosophila, however, refocused attention on effects transmitted to the exposed individuals offspring and concern over fallout in the 1950's resulted in efforts to estimate the genetic effects from exposure of human populations to internally deposited radionuclides. No human populations have been identified with burdens of internally deposited radioactive materials which have been shown to produce evidence of transmissible genetic damage. As a result, the research approach has been one in which macromolecular, cellular, and whole animal genetic studies have been combined to estimate genetic effects on humans following the deposition of radioactive materials in the body. The purpose of this report is to update the information available from animal and cellular experiments that relates genetic effects to deposited activity and dose from internally deposited radioactive materials

  4. Fuzzy Information Retrieval Using Genetic Algorithms and Relevance Feedback.

    Science.gov (United States)

    Petry, Frederick E.; And Others

    1993-01-01

    Describes an approach that combines concepts from information retrieval, fuzzy set theory, and genetic programing to improve weighted Boolean query formulation via relevance feedback. Highlights include background on information retrieval systems; genetic algorithms; subproblem formulation; and preliminary results based on a testbed. (Contains 12…

  5. A “genetics first” approach to selection

    Science.gov (United States)

    A different approach for using genomic information in genetic improvement is proposed. Past research in population genetics and animal breeding combined with information on sequence variants suggest the possibility that selection might be able to capture a portion of inbreeding and heterosis effect...

  6. Comparison of genetic detection efficiency of different markers ...

    African Journals Online (AJOL)

    STORAGESEVER

    2009-06-03

    Jun 3, 2009 ... Chinese native sheep populations, Hu sheep, Tong sheep, Small-tailed Han sheep and Tan sheep were used to study the efficiency of genetic markers. The genetic markers used in this study include morphological and ecological indices, blood protein enzyme, microsatellite DNA and the combination of.

  7. Molecular and pro-inflammatory genetic profile in gastric carcinomas

    NARCIS (Netherlands)

    Sitarz, R.

    2009-01-01

    Gastric cancer is a result from the combination of environmental factors and an accumulation of specific genetic alterations, and affects mainly the older population. It is known that genetic factors play a more important role in early onset gastric cancers than in conventional gastric cancer

  8. Genetic Variations and their Association with Diseases among ...

    African Journals Online (AJOL)

    genetics plays in disease, death and infections. The mode of study involved a combination of a retrospective study and the analysis of genetic variation among Kenyan ethnic populations using ABO blood group system. The results showed that there was association between allele frequencies of ABO system and disease ...

  9. Genetic and environmental effects on mortality before age 70 years

    DEFF Research Database (Denmark)

    Petersen, L.; Andersen, Per Kragh; Sørensen, Thorkild I.A.

    2008-01-01

    There is a familial influence on risk of many diseases and on mortality in general, which, according to studies of twins, is due to a combination of genetic and environmental effects. Adoption studies, which rest on different assumptions, may also be used to estimate separately the genetic...

  10. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Cotranslational protein folding reveals the selective use of synonymous codons along the coding sequence of a low expression gene ... Genetic analysis to identify good combiners for ToLCV resistance and yield components in tomato ... The colocation of O. nivara-derived yield QTL with yield meta-QTL on chromosomes 1, ...

  11. Genetics Home Reference: autoimmune Addison disease

    Science.gov (United States)

    ... common in particular ethnic groups? Genetic Changes The cause of autoimmune Addison disease is complex and not completely understood. A combination ... is not caused by an autoimmune reaction. Other causes include infections that ... adrenal glands. Addison disease can also be one of several features of ...

  12. The genetic component of human longevity

    DEFF Research Database (Denmark)

    Dato, Serena; Thinggaard, Mette Sørensen; De Rango, Francesco

    2018-01-01

    In human longevity studies, single nucleotide polymorphism (SNP) analysis identified a large number of genetic variants with small effects, yet not easily replicable in different populations. New insights may come from the combined analysis of different SNPs, especially when grouped by metabolic ...

  13. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    linkage map; quantitative trait loci; stomata; stress tolerance; eucalyptus ... Correlation of stomatal traits when combined with growth and wood properties would have greater implications for generation of stress tolerant eucalypt hybrids with higher ... Institute of Forest Genetics and Tree Breeding, Coimbatore 641 002, India ...

  14. Molecular Population Genetics.

    Science.gov (United States)

    Casillas, Sònia; Barbadilla, Antonio

    2017-03-01

    Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. During this period, molecular population genetics has been revolutionized by progress in data acquisition and theoretical developments. The conceptual elegance of the neutral theory of molecular evolution or the footprint carved by natural selection on the patterns of genetic variation are two examples of the vast number of inspiring findings of population genetics research. Since the inception of the field, Drosophila has been the prominent model species: molecular variation in populations was first described in Drosophila and most of the population genetics hypotheses were tested in Drosophila species. In this review, we describe the main concepts, methods, and landmarks of molecular population genetics, using the Drosophila model as a reference. We describe the different genetic data sets made available by advances in molecular technologies, and the theoretical developments fostered by these data. Finally, we review the results and new insights provided by the population genomics approach, and conclude by enumerating challenges and new lines of inquiry posed by increasingly large population scale sequence data. Copyright © 2017 Casillas and Barbadilla.

  15. An Increasing Need for Productive and Stress Resilient Festulolium Amphiploids: What Can Be Learnt from the Stable Genomic Composition of Festuca pratensis subsp. apennina (De Not.) Hegi?

    Czech Academy of Sciences Publication Activity Database

    Kopecký, David; Harper, J.; Bartoš, Jan; Gasior, D.; Vrána, Jan; Hřibová, Eva; Boller, T.; Ardenghi, N.M.G.; Šimoníková, Denisa; Doležel, Jaroslav; Humphreys, M.W.

    2016-01-01

    Roč. 4, Oct 14 (2016), č. článku 66. E-ISSN 2296-665X R&D Projects: GA MŠk(CZ) LO1204 Institutional support: RVO:61389030 Keywords : amphiploidy * Festuca pratensis subsp. apennina (De Not.) Hegi * chromosome pairing Subject RIV: EB - Genetics ; Molecular Biology http://journal.frontiersin.org/article/10.3389/fenvs.2016.00066/full

  16. New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening.

    Science.gov (United States)

    Chen, Chun-Kai; Yu, Hsing-Tse; Soong, Yung-Kuei; Lee, Chyi-Long

    2014-06-01

    Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body) or embryos (blastomeres or trophectoderm cells) in order to test for problems in genome sequence or chromosomes of the embryo prior to implantation. It provides new hope of having unaffected children, as well as avoiding the necessity of terminating an affected pregnancy for genetic parents who carry an affected gene or have balanced chromosomal status. Polymerase chain reaction-based molecular techniques are the methods used to detect gene defects with a known sequence and X-linked diseases. The indication for using this approach has expanded for couples who are prevented from having babies because they carry a serious genetic disorder to couples with conditions that are not immediately life threatening, such as cancer predisposition genes and Huntington disease. In addition, fluorescent in situ hybridization (FISH) has been widely applied for the detection of chromosome abnormalities. FISH allows the evaluation of many chromosomes at the same time, up to 15 chromosome pairs in a single cell. Preimplantation genetic screening, defined as a test that screens for aneuploidy, has been most commonly used in situations of advanced maternal age, a history of recurrent miscarriage, a history of repeated implantation failure, or a severe male factor. Unfortunately, randomized controlled trials have as yet shown no benefit with respect to preimplantation genetic screening using cleavage stage biopsy, which is probably attributable to the high levels of mosaicism at early cleavage stages and the limitations of FISH. Recently, two main types of array-based technology combined with whole genome amplification have been developed for use in preimplantation genetic diagnosis; these are comparative genomic hybridization and single nucleotide polymorphism-based arrays. Both allow the analysis of all chromosomes, and the latter also allows the haplotype of

  17. New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening

    Directory of Open Access Journals (Sweden)

    Chun-Kai Chen

    2014-06-01

    Full Text Available Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body or embryos (blastomeres or trophectoderm cells in order to test for problems in genome sequence or chromosomes of the embryo prior to implantation. It provides new hope of having unaffected children, as well as avoiding the necessity of terminating an affected pregnancy for genetic parents who carry an affected gene or have balanced chromosomal status. Polymerase chain reaction-based molecular techniques are the methods used to detect gene defects with a known sequence and X-linked diseases. The indication for using this approach has expanded for couples who are prevented from having babies because they carry a serious genetic disorder to couples with conditions that are not immediately life threatening, such as cancer predisposition genes and Huntington disease. In addition, fluorescent in situ hybridization (FISH has been widely applied for the detection of chromosome abnormalities. FISH allows the evaluation of many chromosomes at the same time, up to 15 chromosome pairs in a single cell. Preimplantation genetic screening, defined as a test that screens for aneuploidy, has been most commonly used in situations of advanced maternal age, a history of recurrent miscarriage, a history of repeated implantation failure, or a severe male factor. Unfortunately, randomized controlled trials have as yet shown no benefit with respect to preimplantation genetic screening using cleavage stage biopsy, which is probably attributable to the high levels of mosaicism at early cleavage stages and the limitations of FISH. Recently, two main types of array-based technology combined with whole genome amplification have been developed for use in preimplantation genetic diagnosis; these are comparative genomic hybridization and single nucleotide polymorphism-based arrays. Both allow the analysis of all chromosomes, and the latter also allows

  18. Ectodermal dysplasia: a genetic review.

    Science.gov (United States)

    Deshmukh, Seema; Prashanth, S

    2012-09-01

    Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body. Each syndrome usually involves a different combination of symptoms, which can range from mild to severe. The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly. The aim of this paper is to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder. How to cite this article: Deshmukh S, Prashanth S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5(3):197-202.

  19. Global genetic diversity of Aedes aegypti.

    Science.gov (United States)

    Gloria-Soria, Andrea; Ayala, Diego; Bheecarry, Ambicadutt; Calderon-Arguedas, Olger; Chadee, Dave D; Chiappero, Marina; Coetzee, Maureen; Elahee, Khouaildi Bin; Fernandez-Salas, Ildefonso; Kamal, Hany A; Kamgang, Basile; Khater, Emad I M; Kramer, Laura D; Kramer, Vicki; Lopez-Solis, Alma; Lutomiah, Joel; Martins, Ademir; Micieli, Maria Victoria; Paupy, Christophe; Ponlawat, Alongkot; Rahola, Nil; Rasheed, Syed Basit; Richardson, Joshua B; Saleh, Amag A; Sanchez-Casas, Rosa Maria; Seixas, Gonçalo; Sousa, Carla A; Tabachnick, Walter J; Troyo, Adriana; Powell, Jeffrey R

    2016-11-01

    Mosquitoes, especially Aedes aegypti, are becoming important models for studying invasion biology. We characterized genetic variation at 12 microsatellite loci in 79 populations of Ae. aegypti from 30 countries in six continents, and used them to infer historical and modern patterns of invasion. Our results support the two subspecies Ae. aegypti formosus and Ae. aegypti aegypti as genetically distinct units. Ae. aegypti aegypti populations outside Africa are derived from ancestral African populations and are monophyletic. The two subspecies co-occur in both East Africa (Kenya) and West Africa (Senegal). In rural/forest settings (Rabai District of Kenya), the two subspecies remain genetically distinct, whereas in urban settings, they introgress freely. Populations outside Africa are highly genetically structured likely due to a combination of recent founder effects, discrete discontinuous habitats and low migration rates. Ancestral populations in sub-Saharan Africa are less genetically structured, as are the populations in Asia. Introduction of Ae. aegypti to the New World coinciding with trans-Atlantic shipping in the 16th to 18th centuries was followed by its introduction to Asia in the late 19th century from the New World or from now extinct populations in the Mediterranean Basin. Aedes mascarensis is a genetically distinct sister species to Ae. aegypti s.l. This study provides a reference database of genetic diversity that can be used to determine the likely origin of new introductions that occur regularly for this invasive species. The genetic uniqueness of many populations and regions has important implications for attempts to control Ae. aegypti, especially for the methods using genetic modification of populations. © 2016 John Wiley & Sons Ltd.

  20. Global Genetic Diversity of Aedes aegypti

    Science.gov (United States)

    Gloria-Soria, Andrea; Ayala, Diego; Bheecarry, Ambicadutt; Calderon-Arguedas, Olger; Chadee, Dave D.; Chiappero, Marina; Coetzee, Maureen; Elahee, Khouaildi bin; Fernandez-Salas, Ildefonso; Kamal, Hany A.; Kamgang, Basile; Khater, Emad I. M.; Kramer, Laura D.; Kramer, Vicki; Lopez-Solis, Alma; Lutomiah, Joel; Martins, Ademir; Micieli, Maria Victoria; Paupy, Christophe; Ponlawat, Alongkot; Rahola, Nil; Rasheed, Syed Basit; Richardson, Joshua B.; Saleh, Amag A.; Sanchez-Casas, Rosa Maria; Seixas, Gonçalo; Sousa, Carla A.; Tabachnick, Walter J.; Troyo, Adriana; Powell, Jeffrey R.

    2016-01-01

    Mosquitoes, especially Aedes aegypti, are becoming important models for studying invasion biology. We characterized genetic variation at 12 microsatellite loci in 79 populations of Ae. aegypti, from 30 countries in six continents and used them to infer historical and modern patterns of invasion. Our results support the two subspecies Ae. aegypti formosus and Ae. aegypti aegypti as genetically distinct units. Ae. aegypti aegypti populations outside Africa are derived from ancestral African populations and are monophyletic. The two subspecies co-occur in both East Africa (Kenya) and West Africa (Senegal). In rural/forest settings (Rabai District of Kenya) the two subspecies remain genetically distinct whereas in urban settings they introgress freely. Populations outside Africa are highly genetically structured likely due to a combination of recent founder effects, discrete discontinuous habitats, and low migration rates. Ancestral populations in sub-Saharan Africa are less genetically structured, as are the populations in Asia. Introduction of Ae. aegypti to the New World coinciding with trans-Atlantic shipping in the 16th to 18th Centuries was followed by its introduction to Asia in the late 19th Century from the New World or from now extinct populations in the Mediterranean Basin. Aedes mascarensis is a genetically distinct sister species to Ae. aegypti s.l.. This study provides a reference database of genetic diversity that can be used to determine the likely origin of new introductions that occur regularly for this invasive species. The genetic uniqueness of many populations and regions has important implications for attempts to control Ae. aegypti, especially for methods using genetic modification of populations. PMID:27671732

  1. Genetics of nonsyndromic obesity.

    Science.gov (United States)

    Lee, Yung Seng

    2013-12-01

    Common obesity is widely regarded as a complex, multifactorial trait influenced by the 'obesogenic' environment, sedentary behavior, and genetic susceptibility contributed by common and rare genetic variants. This review describes the recent advances in understanding the role of genetics in obesity. New susceptibility loci and genetic variants are being uncovered, but the collective effect is relatively small and could not explain most of the BMI heritability. Yet-to-be identified common and rare variants, epistasis, and heritable epigenetic changes may account for part of the 'missing heritability'. Evidence is emerging about the role of epigenetics in determining obesity susceptibility, mediating developmental plasticity, which confers obesity risk from early life experiences. Genetic prediction scores derived from selected genetic variants, and also differential DNA methylation levels and methylation scores, have been shown to correlate with measures of obesity and response to weight loss intervention. Genetic variants, which confer susceptibility to obesity-related morbidities like nonalcoholic fatty liver disease, were also discovered recently. We can expect discovery of more rare genetic variants with the advent of whole exome and genome sequencing, and also greater understanding of epigenetic mechanisms by which environment influences genetic expression and which mediate the gene-environment interaction.

  2. Preimplantation genetic screening.

    Science.gov (United States)

    Harper, Joyce C

    2018-03-01

    Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child. From embryos generated in vitro, biopsied cells are genetically tested. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing in vitro fertilisation, screening as many chromosomes as possible, in the hope that selecting chromosomally normal embryos will lead to higher implantation and decreased miscarriage rates. This procedure, preimplantation genetic screening, was initially performed using fluorescent in situ hybridisation, but 11 randomised controlled trials of screening using this technique showed no improvement in in vitro fertilisation delivery rates. Progress in genetic testing has led to the introduction of array comparative genomic hybridisation, quantitative polymerase chain reaction, and next generation sequencing for preimplantation genetic screening, and three small randomised controlled trials of preimplantation genetic screening using these new techniques indicate a modest benefit. Other trials are still in progress but, regardless of their results, preimplantation genetic screening is now being offered globally. In the near future, it is likely that sequencing will be used to screen the full genetic code of the embryo.

  3. Event Processing and Variable Part of Sample Period Determining in Combined Systems Using GA

    Science.gov (United States)

    Strémy, Maximilián; Závacký, Pavol; Jedlička, Martin

    2011-01-01

    This article deals with combined dynamic systems and usage of modern techniques in dealing with these systems, focusing particularly on sampling period design, cyclic processing tasks and related processing algorithms in the combined event management systems using genetic algorithms.

  4. Towards a genetic architecture of cryptic genetic variation

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 84; Issue 3. Towards a genetic architecture of cryptic genetic variation and genetic assimilation: the contribution of K. G. Bateman. Ian Dworkin. Commentary on J. Genet. Classic Volume 84 Issue 3 December 2005 pp 223-226 ...

  5. Applying the foundations of enterprise systems engineering in complex real-world environments: lessons learnt from real-world project examples

    CSIR Research Space (South Africa)

    Kotzé, Paula

    2016-11-01

    Full Text Available Enterprise systems engineering (ESE) is a multidisciplinary approach that combines traditional systems engineering (TSE) and strategic management to address methods and approaches for aligning system architectures, system development and system...

  6. Advances in the genetically complex autoinflammatory diseases.

    Science.gov (United States)

    Ombrello, Michael J

    2015-07-01

    Monogenic diseases usually demonstrate Mendelian inheritance and are caused by highly penetrant genetic variants of a single gene. In contrast, genetically complex diseases arise from a combination of multiple genetic and environmental factors. The concept of autoinflammation originally emerged from the identification of individual, activating lesions of the innate immune system as the molecular basis of the hereditary periodic fever syndromes. In addition to these rare, monogenic forms of autoinflammation, genetically complex autoinflammatory diseases like the periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, chronic recurrent multifocal osteomyelitis (CRMO), Behçet's disease, and systemic arthritis also fulfill the definition of autoinflammatory diseases-namely, the development of apparently unprovoked episodes of inflammation without identifiable exogenous triggers and in the absence of autoimmunity. Interestingly, investigations of these genetically complex autoinflammatory diseases have implicated both innate and adaptive immune abnormalities, blurring the line between autoinflammation and autoimmunity. This reinforces the paradigm of concerted innate and adaptive immune dysfunction leading to genetically complex autoinflammatory phenotypes.

  7. Genetic Testing Registry

    Science.gov (United States)

    ... RefSeqGene UniGene All Genes & Expression Resources... Genetics & Medicine Bookshelf Database of Genotypes and Phenotypes (dbGaP) Genetic Testing ... ProtMap HomoloGene Protein Clusters All Homology Resources... Literature Bookshelf E-Utilities Journals in NCBI Databases MeSH Database ...

  8. Genetics in the courts

    Energy Technology Data Exchange (ETDEWEB)

    Coyle, Heather; Drell, Dan

    2000-12-01

    Various: (1)TriState 2000 Genetics in the Courts (2) Growing impact of the new genetics on the courts (3)Human testing (4) Legal analysis - in re G.C. (5) Legal analysis - GM ''peanots'', and (6) Legal analysis for State vs Miller

  9. Quo Vadis, Medical Genetics?

    Science.gov (United States)

    Czeizel, Andrew E.

    The beginning of human genetics and its medical part: medical genetics was promising in the early decades of this century. Many genetic diseases and defects with Mendelian origin were identified and it helped families with significant genetic burden to limit their child number. Unfortunately this good start was shadowed by two tragic events. On the one hand, in the 1930s and early 1940s the German fascism brought about the dominance of an unscientific eugenics to mask vile political crimes. People with genetic diseases-defects were forced to sterilisation and several of them were killed. On the other hand, in the 1950s lysenkoism inhibitied the evolution of genetics in the Soviet Union and their satelite countries. Lysenko's doctrine declared genetics as a product of imperialism and a guilty science, therefore leading geneticists were ousted form their posts and some of them were executed or put in prison. Past decades genetics has resulted fantastic new results and achieved a leading position within the natural sciences. To my mind, however, the expected wider use of new eugenics indicates a new tragedy and this Cassandra's prediction is the topic of this presentation.

  10. Formal genetic maps

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2014-12-24

    Dec 24, 2014 ... ome/transcriptome/proteome, experimental induced maps that are intentionally designed and con- ... genetic maps imposed their application in nearly all fields of medical genetics including ..... or genes located adjacent to, or near, them. ...... types of markers, e.g., clinical markers (eye color), genomic.

  11. Cryptic Genetic Variation in Evolutionary Developmental Genetics

    Directory of Open Access Journals (Sweden)

    Annalise B. Paaby

    2016-06-01

    Full Text Available Evolutionary developmental genetics has traditionally been conducted by two groups: Molecular evolutionists who emphasize divergence between species or higher taxa, and quantitative geneticists who study variation within species. Neither approach really comes to grips with the complexities of evolutionary transitions, particularly in light of the realization from genome-wide association studies that most complex traits fit an infinitesimal architecture, being influenced by thousands of loci. This paper discusses robustness, plasticity and lability, phenomena that we argue potentiate major evolutionary changes and provide a bridge between the conceptual treatments of macro- and micro-evolution. We offer cryptic genetic variation and conditional neutrality as mechanisms by which standing genetic variation can lead to developmental system drift and, sheltered within canalized processes, may facilitate developmental transitions and the evolution of novelty. Synthesis of the two dominant perspectives will require recognition that adaptation, divergence, drift and stability all depend on similar underlying quantitative genetic processes—processes that cannot be fully observed in continuously varying visible traits.

  12. Genetics of aggression.

    Science.gov (United States)

    Anholt, Robert R H; Mackay, Trudy F C

    2012-01-01

    Aggression mediates competition for food, mating partners, and habitats and, among social animals, establishes stable dominance hierarchies. In humans, abnormal aggression is a hallmark of neuropsychiatric disorders and can be elicited by environmental factors acting on an underlying genetic susceptibility. Identifying the genetic architecture that predisposes to aggressive behavior in people is challenging because of difficulties in quantifying the phenotype, genetic heterogeneity, and uncontrolled environmental conditions. Studies on mice have identified single-gene mutations that result in hyperaggression, contingent on genetic background. These studies can be complemented by systems genetics approaches in Drosophila melanogaster, in which mutational analyses together with genome-wide transcript analyses, artificial selection studies, and genome-wide analysis of epistasis have revealed that a large segment of the genome contributes to the manifestation of aggressive behavior with widespread epistatic interactions. Comparative genomic analyses based on the principle of evolutionary conservation are needed to enable a complete dissection of the neurogenetic underpinnings of this universal fitness trait.

  13. Genetic improvement of vegetables

    International Nuclear Information System (INIS)

    Jaramillo Vasquez, J.G.

    2001-01-01

    Some genetic bases of the improvement of vegetables are given. The objectives of the genetic improvement and the fundamental stages of this process are done. The sources of genetic variation are indicated and they are related the reproduction systems of the main horticultural species. It is analyzed the concept of genetic inheritance like base to determine the procedures more appropriate of improvement. The approaches are discussed, has more than enough phenotypic value, genetic action and genotypic variance; Equally the heredability concepts and value of improvement. The conventional methods of improvement are described, like they are: the introduction of species or varieties, the selection, the pure line, the pedigree method, the selection for families, the recurrent selection, the selection for unique seed, the haploids method, the selection for heterosis and the synthetic varieties

  14. PCR in forensic genetics

    DEFF Research Database (Denmark)

    Morling, Niels

    2009-01-01

    Since the introduction in the mid-1980s of analyses of minisatellites for DNA analyses, a revolution has taken place in forensic genetics. The subsequent invention of the PCR made it possible to develop forensic genetics tools that allow both very informative routine investigations and still more...... and more advanced, special investigations in cases concerning crime, paternity, relationship, disaster victim identification etc. The present review gives an update on the use of DNA investigations in forensic genetics.......Since the introduction in the mid-1980s of analyses of minisatellites for DNA analyses, a revolution has taken place in forensic genetics. The subsequent invention of the PCR made it possible to develop forensic genetics tools that allow both very informative routine investigations and still more...

  15. Genetics Home Reference: isolated growth hormone deficiency

    Science.gov (United States)

    ... can be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (4 links) Genetic Testing Registry: Ateleiotic dwarfism Genetic Testing Registry: Autosomal dominant isolated somatotropin deficiency ...

  16. Fallout radionuclide-based techniques for assessing the impact of soil conservation measures on erosion control and soil quality: an overview of the main lessons learnt under an FAO/IAEA Coordinated Research Project

    International Nuclear Information System (INIS)

    Dercon, G.; Mabit, L.; Hancock, G.; Nguyen, M.L.; Dornhofer, P.; Bacchi, O.O.S.; Benmansour, M.; Bernard, C.; Froehlich, W.; Golosov, V.N.; Haciyakupoglu, S.; Hai, P.S.; Klik, A.

    2012-01-01

    This paper summarizes key findings and identifies the main lessons learnt from a 5-year (2002–2008) coordinated research project (CRP) on “Assessing the effectiveness of soil conservation measures for sustainable watershed management and crop production using fallout radionuclides” (D1.50.08), organized and funded by the International Atomic Energy Agency through the Joint FAO/IAEA Division of Nuclear Techniques in Food and Agriculture. The project brought together nineteen participants, from Australia, Austria, Brazil, Canada, Chile, China, Japan, Morocco, Pakistan, Poland, Romania, Russian Federation, Turkey, United Kingdom, United States of America and Vietnam, involved in the use of nuclear techniques and, more particularly, fallout radionuclides (FRN) to assess the relative impacts of different soil conservation measures on soil erosion and land productivity. The overall objective of the CRP was to develop improved land use and management strategies for sustainable watershed management through effective soil erosion control practices, by the use of 137 Cs (half-life of 30.2 years), 210 Pb ex (half-life of 22.3 years) and 7 Be (half-life of 53.4 days) for measuring soil erosion over several spatial and temporal scales. The environmental conditions under which the different research teams applied the tools based on the use of fallout radionuclides varied considerably – a variety of climates, soils, topographies and land uses. Nevertheless, the achievements of the CRP, as reflected in this overview paper, demonstrate that fallout radionuclide-based techniques are powerful tools to assess soil erosion/deposition at several spatial and temporal scales in a wide range of environments, and offer potential to monitor soil quality. The success of the CRP has stimulated an interest in many IAEA Member States in the use of these methodologies to identify factors and practices that can enhance sustainable agriculture and minimize land degradation. - Highlights:

  17. Genetic variation and its maintenance

    International Nuclear Information System (INIS)

    Roberts, D.F.; De Stefano, G.F.

    1986-01-01

    This book contains several papers divided among three sections. The section titles are: Genetic Diversity--Its Dimensions; Genetic Diversity--Its Origin and Maintenance; and Genetic Diversity--Applications and Problems of Complex Characters

  18. Genetics Home Reference: Farber lipogranulomatosis

    Science.gov (United States)

    ... features. Type 1 is the most common, or classical, form of this condition and is associated with ... be inherited? More about Inheriting Genetic Conditions Diagnosis & Management Resources Genetic Testing (1 link) Genetic Testing Registry: ...

  19. Genetic heterogeneity of retinitis pigmentosa

    OpenAIRE

    Hartono, Hartono

    2015-01-01

    Genetic heterogeneity is a phenomenon in which a genetic disease can be transmitted by several modes of inheritance. The understanding of genetic heterogeneity is important in giving genetic counselling.The presence of genetic heterogeneity can be explained by the existence of:1.different mutant alleles at a single locus, and2.mutant alleles at different loci affecting the same enzyme or protein, or affecting different enzymes or proteins.To have an overall understanding of genetic heterogene...

  20. Genetic variability in local Brazilian horse lines using microsatellite markers.

    Science.gov (United States)

    Silva, A C M; Paiva, S R; Albuquerque, M S M; Egito, A A; Santos, S A; Lima, F C; Castro, S T; Mariante, A S; Correa, P S; McManus, C M

    2012-04-10

    Genetic variability at 11 microsatellite markers was analyzed in five naturalized/local Brazilian horse breeds or genetic groups. Blood samples were collected from 328 animals of the breeds Campeira (Santa Catarina State), Lavradeira (Roraima State), Pantaneira (Pantanal Mato-Grossense), Mangalarga Marchador (Minas Gerais State), as well as the genetic group Baixadeiro (Maranhão State), and the exotic breeds English Thoroughbred and Arab. We found significant genetic variability within evaluated microsatellite loci, with observed heterozygosis varying between 0.426 and 0.768 and polymorphism information content values of 0.751 to 0.914. All breeds showed high inbreeding coefficients and were not in Hardy-Weinberg equilibrium. The smallest genetic distance was seen between the Pantaneira and Arab breeds. The principal component analyzes and Bayesian approach demonstrated that the exotic breeds have had a significant influence on the genetic formation of the local breeds, with introgression of English Throroughbred in Pantaneira and Lavradeira, as well as genetic proximity between the Arab, Pantaneira and Mangalarga Marchador populations. This study shows the need to conserve traits acquired by naturalized horse breeds over centuries of natural selection in Brazil due to the genetic uniqueness of each group, suggesting a reduced gene flow between them. These results reinforce the need to include these herds in animal genetic resource conservation programs to maximize the genetic variability and conserve useful allele combinations.

  1. [The study of tomato fruit weight quantitative trait locus and its application in genetics teaching].

    Science.gov (United States)

    Wang, Hai-yan

    2015-08-01

    The classical research cases, which have greatly promoted the development of genetics in history, can be combined with the content of courses in genetics teaching to train students' ability of scientific thinking and genetic analysis. The localization and clone of gene controlling tomato fruit weight is a pioneer work in quantitative trait locus (QTL) studies and represents a complete process of QTL research in plants. Application of this integrated case in genetics teaching, which showed a wonderful process of scientific discovery and the fascination of genetic research, has inspired students' interest in genetics and achieved a good teaching effect.

  2. Genetic effects of radiation

    International Nuclear Information System (INIS)

    Selby, P.B.

    1977-01-01

    Many of the most important findings concerning the genetic effects of radiation have been obtained in the Biology Division of Oak Ridge National Laboratory. The paper focuses on some of the major discoveries made in the Biology Division and on a new method of research that assesses damage to the skeletons of mice whose fathers were irradiated. The results discussed have considerable influence upon estimates of genetic risk in humans from radiation, and an attempt is made to put the estimated amount of genetic damage caused by projected nuclear power development into its proper perspective

  3. Genetically Engineered Cyanobacteria

    Science.gov (United States)

    Zhou, Ruanbao (Inventor); Gibbons, William (Inventor)

    2015-01-01

    The disclosed embodiments provide cyanobacteria spp. that have been genetically engineered to have increased production of carbon-based products of interest. These genetically engineered hosts efficiently convert carbon dioxide and light into carbon-based products of interest such as long chained hydrocarbons. Several constructs containing polynucleotides encoding enzymes active in the metabolic pathways of cyanobacteria are disclosed. In many instances, the cyanobacteria strains have been further genetically modified to optimize production of the carbon-based products of interest. The optimization includes both up-regulation and down-regulation of particular genes.

  4. Statistics for Learning Genetics

    Science.gov (United States)

    Charles, Abigail Sheena

    This study investigated the knowledge and skills that biology students may need to help them understand statistics/mathematics as it applies to genetics. The data are based on analyses of current representative genetics texts, practicing genetics professors' perspectives, and more directly, students' perceptions of, and performance in, doing statistically-based genetics problems. This issue is at the emerging edge of modern college-level genetics instruction, and this study attempts to identify key theoretical components for creating a specialized biological statistics curriculum. The goal of this curriculum will be to prepare biology students with the skills for assimilating quantitatively-based genetic processes, increasingly at the forefront of modern genetics. To fulfill this, two college level classes at two universities were surveyed. One university was located in the northeastern US and the other in the West Indies. There was a sample size of 42 students and a supplementary interview was administered to a select 9 students. Interviews were also administered to professors in the field in order to gain insight into the teaching of statistics in genetics. Key findings indicated that students had very little to no background in statistics (55%). Although students did perform well on exams with 60% of the population receiving an A or B grade, 77% of them did not offer good explanations on a probability question associated with the normal distribution provided in the survey. The scope and presentation of the applicable statistics/mathematics in some of the most used textbooks in genetics teaching, as well as genetics syllabi used by instructors do not help the issue. It was found that the text books, often times, either did not give effective explanations for students, or completely left out certain topics. The omission of certain statistical/mathematical oriented topics was seen to be also true with the genetics syllabi reviewed for this study. Nonetheless

  5. A genetic atlas of human admixture history

    Science.gov (United States)

    Hellenthal, Garrett; Busby, George B.J.; Band, Gavin; Wilson, James F.; Capelli, Cristian

    2014-01-01

    Modern genetic data combined with appropriate statistical methods have the potential to contribute substantially to our understanding of human history. We have developed an approach that exploits the genomic structure of admixed populations to date and characterize historical mixture events at fine scales. We used this to produce an atlas of worldwide human admixture history, constructed using genetic data alone and encompassing over 100 events occurring over the past 4,000 years. We identify events whose dates and participants suggest they describe genetic impacts of the Mongol Empire, Arab slave trade, Bantu expansion, first millennium CE migrations in eastern Europe, and European colonialism, as well as unrecorded events, revealing admixture to be an almost universal force shaping human populations. PMID:24531965

  6. A genetic atlas of human admixture history.

    Science.gov (United States)

    Hellenthal, Garrett; Busby, George B J; Band, Gavin; Wilson, James F; Capelli, Cristian; Falush, Daniel; Myers, Simon

    2014-02-14

    Modern genetic data combined with appropriate statistical methods have the potential to contribute substantially to our understanding of human history. We have developed an approach that exploits the genomic structure of admixed populations to date and characterize historical mixture events at fine scales. We used this to produce an atlas of worldwide human admixture history, constructed by using genetic data alone and encompassing over 100 events occurring over the past 4000 years. We identified events whose dates and participants suggest they describe genetic impacts of the Mongol empire, Arab slave trade, Bantu expansion, first millennium CE migrations in Eastern Europe, and European colonialism, as well as unrecorded events, revealing admixture to be an almost universal force shaping human populations.

  7. An overview of human genetic privacy.

    Science.gov (United States)

    Shi, Xinghua; Wu, Xintao

    2017-01-01

    The study of human genomics is becoming a Big Data science, owing to recent biotechnological advances leading to availability of millions of personal genome sequences, which can be combined with biometric measurements from mobile apps and fitness trackers, and of human behavior data monitored from mobile devices and social media. With increasing research opportunities for integrative genomic studies through data sharing, genetic privacy emerges as a legitimate yet challenging concern that needs to be carefully addressed, not only for individuals but also for their families. In this paper, we present potential genetic privacy risks and relevant ethics and regulations for sharing and protecting human genomics data. We also describe the techniques for protecting human genetic privacy from three broad perspectives: controlled access, differential privacy, and cryptographic solutions. © 2016 New York Academy of Sciences.

  8. Genetic variants of ghrelin in metabolic disorders.

    Science.gov (United States)

    Ukkola, Olavi

    2011-11-01

    An increasing understanding of the role of genes in the development of obesity may reveal genetic variants that, in combination with conventional risk factors, may help to predict an individual's risk for developing metabolic disorders. Accumulating evidence indicates that ghrelin plays a role in regulating food intake and energy homeostasis and it is a reasonable candidate gene for obesity-related co-morbidities. In cross-sectional studies low total ghrelin concentrations and some genetic polymorphisms of ghrelin have been associated with obesity-associated diseases. The present review highlights many of the important problems in association studies of genetic variants and complex diseases. It is known that population-specific differences in reported associations exist. We therefore conclude that more studies on variants of ghrelin gene are needed to perform in different populations to get deeper understanding on the relationship of ghrelin gene and its variants to obesity. Copyright © 2011 Elsevier Inc. All rights reserved.

  9. An overview of human genetic privacy

    Science.gov (United States)

    Shi, Xinghua; Wu, Xintao

    2016-01-01

    The study of human genomics is becoming a Big Data science, owing to recent biotechnological advances leading to availability of millions of personal genome sequences, which can be combined with biometric measurements from mobile apps and fitness trackers, and of human behavior data monitored from mobile devices and social media. With increasing research opportunities for integrative genomic studies through data sharing, genetic privacy emerges as a legitimate yet challenging concern that needs to be carefully addressed, not only for individuals but also for their families. In this paper, we present potential genetic privacy risks and relevant ethics and regulations for sharing and protecting human genomics data. We also describe the techniques for protecting human genetic privacy from three broad perspectives: controlled access, differential privacy, and cryptographic solutions. PMID:27626905

  10. Screening for severe combined immunodeficiency in neonates

    OpenAIRE

    Kelly, Brian T; Tam, Jonathan S; Verbsky, James W; Routes, John M

    2013-01-01

    Brian T Kelly,1 Jonathan S Tam,1 James W Verbsky,1,2 John M Routes1,2 1Department of Pediatrics, 2Department of Microbiology and Molecular Genetics, Medical College of Wisconsin, Milwaukee, WI, USA Abstract: Severe combined immunodeficiency (SCID) is a rare disease that severely affects the cellular and humoral immune systems. Patients with SCID present with recurrent or severe infections and often with chronic diarrhea and failure to thrive. The disease is uniformly fatal, making early diag...

  11. Assessing Genetic Variants of Uncertain Significance: The Example of Lynch Syndrome

    DEFF Research Database (Denmark)

    Rasmussen, Lene Juel; Heinen, Christopher D.

    2014-01-01

    cancer syndrome, Lynch syndrome, is used as an example. This challenge is addressed by illustrating the importance of combining genetic and functional data in future strategies to assess VUS. The proposed strategies combine clinical genetic, analytical, functional and in silico approaches....

  12. Common Genetic Variants Found in HLA and KIR Immune Genes in Autism Spectrum Disorder

    OpenAIRE

    Torres, Anthony R.; Sweeten, Thayne L.; Johnson, Randall C.; Odell, Dennis; Westover, Jonna B.; Bray-Ward, Patricia; Ward, David C.; Davies, Christopher J.; Thomas, Aaron J.; Croen, Lisa A.; Benson, Michael

    2016-01-01

    The common variant - common disease hypothesis was proposed to explain diseases with strong inheritance. This model suggests that a genetic disease is the result of the combination of several common genetic variants. Common genetic variants are described as a 5% frequency differential between diseased versus matched control populations. This theory was recently supported by an epidemiology paper stating that about 50% of genetic risk for autism resides in common variants. However, rare va...

  13. Advances in combination therapy of lung cancer

    DEFF Research Database (Denmark)

    Wu, Lan; Leng, Donglei; Cun, Dongmei

    2017-01-01

    Lung cancer is a complex disease caused by a multitude of genetic and environmental factors. The progression of lung cancer involves dynamic changes in the genome and a complex network of interactions between cancer cells with multiple, distinct cell types that form tumors. Combination therapy......, including small molecule drugs and biopharmaceuticals, which make the optimization of dosing and administration schedule challenging. This article reviews the recent advances in the design and development of combinations of pharmaceuticals for the treatment of lung cancer. Focus is primarily on rationales...... for the selection of specific combination therapies for lung cancer treatment, and state of the art of delivery technologies and dosage regimens for the combinations, tested in preclinical and clinical trials....

  14. Preimplantation genetic diagnosis

    DEFF Research Database (Denmark)

    Bay, Bjorn; Ingerslev, Hans Jakob; Lemmen, Josephine Gabriela

    2016-01-01

    OBJECTIVE: To study whether women conceiving after preimplantation genetic diagnosis (PGD) and their children have greater risks of adverse pregnancy and birth outcomes compared with children conceived spontaneously or after IVF with or without intracytoplasmic sperm injection (ICSI). DESIGN...

  15. Genetics and Neuromuscular Diseases

    Science.gov (United States)

    ... Testing that reveals a young child’s genet- ic destiny may affect relationships within the family or may ... linked inheritance don’t apply at all. An embryo receives its mitochondria from the mother’s egg cell, ...

  16. LSD and Genetic Damage

    Science.gov (United States)

    Dishotsky, Norman I.; And Others

    1971-01-01

    Reviews studies of the effects of lysergic acid diethylamide (LSD) on man and other organisms. Concludes that pure LSD injected in moderate doses does not cause chromosome or detectable genetic damage and is not a teratogen or carcinogen. (JM)

  17. Genetics Home Reference: piebaldism

    Science.gov (United States)

    ... be a feature of other conditions, such as Waardenburg syndrome ; these conditions have other genetic causes and additional ... 140S. Review. Citation on PubMed Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan ...

  18. Genetics Home Reference: sialuria

    Science.gov (United States)

    ... inheritance of sialuria, an inborn error of feedback inhibition. Am J Hum Genet. 2001 Jun;68(6): ... Links Data Files & API Site Map Subscribe Customer Support USA.gov Copyright Privacy Accessibility FOIA Viewers & Players ...

  19. Genetics of Diabetes

    Science.gov (United States)

    ... A A A Listen En Español Genetics of Diabetes You've probably wondered how you developed diabetes. ... to develop diabetes than others. What Leads to Diabetes? Type 1 and type 2 diabetes have different ...

  20. [The genetics of addictions].

    Science.gov (United States)

    Ibañez Cuadrado, Angela

    2008-01-01

    The addictions are common chronic psychiatric diseases which represent a serious worldwide public-health problem. They have a high prevalence and negative effects at individual, family and societal level, with a high sanitary cost. Epidemiological genetic research has revealed that addictions are moderately to highly heritable. Also the investigation has evidenced that environmental and genetic factors contribute to individual differences in vulnerability to addictions. Advances in the neurobiology of addiction joined to the development of new molecular genetic technologies, have led to the identification of a variety of underlying genes and pathways in addiction process, leading to the description of common molecular mechanisms in substance and behaviour dependencies. Identifying gene-environment interactions is a crucial issue in future research. Other major goal in genetic research is the identification of new therapeutic targets for treatment and prevention.

  1. Genetics for the ophthalmologist

    Directory of Open Access Journals (Sweden)

    Karthikeyan A Sadagopan

    2012-01-01

    Full Text Available The eye has played a major role in human genomics including gene therapy. It is the fourth most common organ system after integument (skin, hair and nails, nervous system, and musculoskeletal system to be involved in genetic disorders. The eye is involved in single gene disorders and those caused by multifactorial etiology. Retinoblastoma was the first human cancer gene to be cloned. Leber hereditary optic neuropathy was the first mitochondrial disorder described. X-Linked red-green color deficiency was the first X-linked disorder described. The eye, unlike any other body organ, allows directly visualization of genetic phenomena such as skewed X-inactivation in the fundus of a female carrier of ocular albinism. Basic concepts of genetics and their application to clinical ophthalmological practice are important not only in making a precise diagnosis and appropriate referral, but also in management and genetic counseling.

  2. Genetics Home Reference: sitosterolemia

    Science.gov (United States)

    ... also helps regulate cholesterol levels in a similar fashion; normally about 50 percent of cholesterol in the ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  3. Review of genetic concepts

    International Nuclear Information System (INIS)

    Robinson, A.

    1984-01-01

    In recent years, practitioners of medicine have become increasingly aware of the importance of genetics in the understanding of physical and mental health and in the management of disease. The last decades have witnessed unprecedented developments in genetics that have increased our understanding of the basic processes of heredity enormously. New techniques and understanding have provided insights directly applicable to medicine. The fundamental fact of heredity may be considered the ability of living organisms to produce offspring that resemble their parents more than others. One of the basic characteristics of the human condition is the uniqueness and diversity of all individuals. This results from their genetic individuality (with the exception of identical twins) and the interaction of the genetic constitution (the genome) with the environment, which is generally unique to the individual as well. In short, the interaction of genes with the environment is what confers biologic uniqueness to all humans

  4. Genetic Sample Inventory

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This database archives genetic tissue samples from marine mammals collected primarily from the U.S. east coast. The collection includes samples from field programs,...

  5. Specific Genetic Disorders

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  6. Genetic Mutations in Cancer

    Science.gov (United States)

    Many different types of genetic mutations are found in cancer cells. This infographic outlines certain types of alterations that are present in cancer, such as missense, nonsense, frameshift, and chromosome rearrangements.

  7. Genetic Sample Inventory - NRDA

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — This database archives genetic tissue samples from marine mammals collected in the North-Central Gulf of Mexico from 2010-2015. The collection includes samples from...

  8. Regulation of Genetic Tests

    Science.gov (United States)

    ... for Genomics Research Intellectual Property Issues in Genetics Archive Online Bioethics Resources Privacy in Genomics Regulation of ... are not regulated, meaning that they go to market without any independent analysis to verify the claims ...

  9. Genetics of osteoarthritis.

    Science.gov (United States)

    Rodriguez-Fontenla, Cristina; Gonzalez, Antonio

    2015-01-01

    Osteoarthritis (OA) is a complex disease caused by the interaction of multiple genetic and environmental factors. This review focuses on the studies that have contributed to the discovery of genetic susceptibility factors in OA. The most relevant associations discovered until now are discussed in detail: GDF-5, 7q22 locus, MCF2L, DOT1L, NCOA3 and also some important findings from the arcOGEN study. Moreover, the different approaches that can be used to minimize the specific problems of the study of OA genetics are discussed. These include the study of microsatellites, phenotype standardization and other methods such as meta-analysis of GWAS and gene-based analysis. It is expected that these new approaches contribute to finding new susceptibility genetic factors for OA. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  10. Evaluating human genetic diversity

    National Research Council Canada - National Science Library

    ... into human evolution and origins and serving as a springboard for important medical research. It also addresses issues of confidentiality and individual privacy for participants in genetic diversity research studies.

  11. Genetics Home Reference: hypercholesterolemia

    Science.gov (United States)

    ... Encyclopedia: Familial hypercholesterolemia Encyclopedia: High blood cholesterol and triglycerides Encyclopedia: Xanthoma Health Topic: Cholesterol Health Topic: High Cholesterol in Children and Teens Health Topic: Lipid Metabolism Disorders Genetic and Rare Diseases Information Center (1 ...

  12. Birth control pills - combination

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/patientinstructions/000655.htm Birth control pills - combination To use the sharing features on ... both progestin and estrogen. What Are Combination Birth Control Pills? Birth control pills help keep you from ...

  13. Genetics of bipolar disorder

    Directory of Open Access Journals (Sweden)

    Kerner B

    2014-02-01

    Full Text Available Berit Kerner Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA Abstract: Bipolar disorder is a common, complex genetic disorder, but the mode of transmission remains to be discovered. Many researchers assume that common genomic variants carry some risk for manifesting the disease. The research community has celebrated the first genome-wide significant associations between common single nucleotide polymorphisms (SNPs and bipolar disorder. Currently, attempts are under way to translate these findings into clinical practice, genetic counseling, and predictive testing. However, some experts remain cautious. After all, common variants explain only a very small percentage of the genetic risk, and functional consequences of the discovered SNPs are inconclusive. Furthermore, the associated SNPs are not disease specific, and the majority of individuals with a “risk” allele are healthy. On the other hand, population-based genome-wide studies in psychiatric disorders have rediscovered rare structural variants and mutations in genes, which were previously known to cause genetic syndromes and monogenic Mendelian disorders. In many Mendelian syndromes, psychiatric symptoms are prevalent. Although these conditions do not fit the classic description of any specific psychiatric disorder, they often show nonspecific psychiatric symptoms that cross diagnostic boundaries, including intellectual disability, behavioral abnormalities, mood disorders, anxiety disorders, attention deficit, impulse control deficit, and psychosis. Although testing for chromosomal disorders and monogenic Mendelian disorders is well established, testing for common variants is still controversial. The standard concept of genetic testing includes at least three broad criteria that need to be fulfilled before new genetic tests should be introduced: analytical validity, clinical validity, and clinical utility. These criteria are

  14. Applications of Genetic Programming

    DEFF Research Database (Denmark)

    Gaunholt, Hans; Toma, Laura

    1996-01-01

    In this report a study of genetic programming (GP) has been performed with respect to a number of applications such as Symbolic function regression, Solving Symbolic Differential Equations, Image encoding, the ant problem etc.......In this report a study of genetic programming (GP) has been performed with respect to a number of applications such as Symbolic function regression, Solving Symbolic Differential Equations, Image encoding, the ant problem etc....

  15. Genetics and developmental biology

    International Nuclear Information System (INIS)

    Barnett, W.E.

    1975-01-01

    Progress is reported on research activities in the fields of mutagenesis in Haemophilus influenzae and Escherichia coli; radioinduced chromosomal aberrations in mammalian germ cells; effects of uv radiation on xeroderma pigmentosum skin cells; mutations in Chinese hamster ovary cells; radioinduced hemoglobin variants in the mouse; analysis of mutants in yeast; Drosophila genetics; biochemical genetics of Neurospora; DNA polymerase activity in Xenopus laevis oocytes; uv-induced damage in Bacillus subtilis; and others

  16. Christianity, health, and genetics.

    Science.gov (United States)

    Smith, David H

    2009-02-15

    Health is an intrinsic value that Christians should respect, but it is not the highest value. Christians should be willing to jeopardize their own health for the health of others, and should repudiate any idea that genetic problems are the result of sin. Rather, sin leads us to make genetic problems harder to live with than they should be. (c) 2009 Wiley-Liss, Inc.

  17. Somatic and genetic effects

    International Nuclear Information System (INIS)

    Broerse, J.J.; Barendsen, G.W.; Kal, H.B.; Kogel, A.J. van der

    1983-01-01

    This book contains the extended abstracts of the contributions of the poster workshop sessions on somatic and genetic effects of the 7th international congress of radiation research. They cover the following main topics: haematopoietic and immune systems, mechanisms of late effects in various tissues, endogenous and exogenous factors in radiation carcinogenesis, teratogenic effects, genetic effects, in vitro transformation, tumour induction in different tissues, carcinogenesis in incorporated tissues, cancer epidemology and risk assessment. refs.; figs.; tabs

  18. Capacity-building of the allied health workforce to prevent and control diabetes: Lessons learnt from the National Initiative to Reinforce and Organize General Diabetes Care in Sri Lanka (NIROGI Lanka) project.

    Science.gov (United States)

    Wijeyaratne, Chandrika; Arambepola, Carukshi; Karunapema, Palitha; Periyasamy, Kayathri; Hemachandra, Nilmini; Ponnamperuma, Gominda; Beneragama, Hemantha; de Alwis, Sunil

    2016-04-01

    In 2008, to tackle the exponential rise in the clinical burden of diabetes that was challenging the health systems in Sri Lanka, a shift in focus towards patient-centred care linked with community health promotion was initiated by the National Initiative to Reinforce and Organize General Diabetes Care in Sri Lanka (NIROGI Lanka) project of the Sri Lanka Medical Association. Specific training of "diabetes educator nursing officers" (DENOs), field staff in maternal and child health, footwear technicians, and health promoters from the community, was instituted to improve knowledge, skills and attitudes in the area of control and prevention of diabetes. This article highlights some of the activities carried out to date with the allied health workforce and volunteer community. Specifically, it describes experiences with the DENO programme: the educational and administrative processes adopted, challenges faced and lessons learnt. It also highlights an approach to prevention and management of complications of chronic diabetic foot through training a cohort of prosthetics and orthotics technicians, in the absence of podiatrists, and an initiative to provide low-cost protective footwear. Harnessing the enthusiasm of volunteers - adults and schoolchildren - to address behavioural risk factors in a culturally appropriate fashion has also been a key part of the NIROGI Lanka strategy.

  19. Sports genetics moving forward: lessons learned from medical research.

    Science.gov (United States)

    Mattsson, C Mikael; Wheeler, Matthew T; Waggott, Daryl; Caleshu, Colleen; Ashley, Euan A

    2016-03-01

    Sports genetics can take advantage of lessons learned from human disease genetics. By righting past mistakes and increasing scientific rigor, we can magnify the breadth and depth of knowledge in the field. We present an outline of challenges facing sports genetics in the light of experiences from medical research. Sports performance is complex, resulting from a combination of a wide variety of different traits and attributes. Improving sports genetics will foremost require analyses based on detailed phenotyping. To find widely valid, reproducible common variants associated with athletic phenotypes, study sample sizes must be dramatically increased. One paradox is that in order to confirm relevance, replications in specific populations must be undertaken. Family studies of athletes may facilitate the discovery of rare variants with large effects on athletic phenotypes. The complexity of the human genome, combined with the complexity of athletic phenotypes, will require additional metadata and biological validation to identify a comprehensive set of genes involved. Analysis of personal genetic and multiomic profiles contribute to our conceptualization of precision medicine; the same will be the case in precision sports science. In the refinement of sports genetics it is essential to evaluate similarities and differences between sexes and among ethnicities. Sports genetics to date have been hampered by small sample sizes and biased methodology, which can lead to erroneous associations and overestimation of effect sizes. Consequently, currently available genetic tests based on these inherently limited data cannot predict athletic performance with any accuracy. Copyright © 2016 the American Physiological Society.

  20. Contemporary Genetics for Gender Researchers: Not Your Grandma's Genetics Anymore

    Science.gov (United States)

    Salk, Rachel H.; Hyde, Janet S.

    2012-01-01

    Over the past century, much of genetics was deterministic, and feminist researchers framed justified criticisms of genetics research. However, over the past two decades, genetics research has evolved remarkably and has moved far from earlier deterministic approaches. Our article provides a brief primer on modern genetics, emphasizing contemporary…

  1. 50. Brazilian congress on genetics. 50 years developing genetics. Abstracts

    International Nuclear Information System (INIS)

    2004-01-01

    Use of radioisotopes and ionizing radiations in genetics is presented. Several aspects related to men, animals,plants and microorganisms are reported highlighting biological radiation effects, evolution, mutagenesis and genetic engineering. Genetic mapping, gene mutations, genetic diversity, DNA damages, plant cultivation and plant grow are studied as well

  2. Genetics & sport: bioethical concerns.

    Science.gov (United States)

    Miah, Andy

    2012-12-01

    This paper provides an overview of the ethical issues pertaining to the use of genetic insights and techniques in sport. Initially, it considers a range of scientific findings that have stimulated debate about the ethical issues associated with genetics applied to sport. It also outlines some of the early policy responses to these discoveries from world leading sports organizations, along with knowledge about actual use of gene technologies in sport. Subsequently, it considers the challenges with distinguishing between therapeutic use and human enhancement within genetic science, which is a particularly important issue for the world of sport. Next, particular attention is given to the use of genetic information, which raises questions about the legitimacy and reliability of genetic tests, along with the potential public value of having DNA databanks to economize in health care. Finally, the ethics of gene transfer are considered, inviting questions into the values of sport and humanity. It argues that, while gene modification may seem conceptually similar to other forms of doping, the requirements upon athletes are such that new forms of enhancement become increasingly necessary to discover. Insofar as genetic science is able to create safer, more effective techniques of human modification, then it may be an appealing route through which to modify athletes to safeguard the future of elite sports as enterprises of human excellence.

  3. Genetic and environmental interactions

    International Nuclear Information System (INIS)

    Strong, L.C.

    1977-01-01

    Cancer may result from a multistage process occurring over a long period of time. Presumably, initial and progressive stages of carcinogenesis may be modified by both genetic and environmental factors. Theoretically, genetic factors may alter susceptibility to the carcinogenic effects of an environmental agent at the initial exposure due to variation in metabolism of the carcinogen or variation in specific target cell response to the active carcinogen, or during the latent phase due to numerous factors that might increase the probability of tumor expression, including growth-promoting factors or immunodeficiency states. Observed genetic and environmental interactions in carcinogenesis include an association between genetically determined inducibility of aryl hydrocarbon hydroxylase and smoking-related cancers, familial susceptibility to certain environmental carcinogens, an association between hereditary disorders of mutagenesis and carcinogenesis, and enhancement of tissue-specific, dominantly inherited tumor predisposition by radiation. Multiple primary tumors occur frequently in genetically predisposed individuals. Specific markers for susceptibility must be sought in order that high-risk individuals be identified and appropriate measures taken for early cancer detection or prevention. Study of the nature of the genetically determined susceptibility and interactions with environmental agents may be revealing in the understanding of carcinogenesis in general

  4. Modifiable Combining Functions

    OpenAIRE

    Cohen, Paul; Shafer, Glenn; Shenoy, Prakash P.

    2013-01-01

    Modifiable combining functions are a synthesis of two common approaches to combining evidence. They offer many of the advantages of these approaches and avoid some disadvantages. Because they facilitate the acquisition, representation, explanation, and modification of knowledge about combinations of evidence, they are proposed as a tool for knowledge engineers who build systems that reason under uncertainty, not as a normative theory of evidence.

  5. Human genetic factors in tuberculosis: an update.

    Science.gov (United States)

    van Tong, Hoang; Velavan, Thirumalaisamy P; Thye, Thorsten; Meyer, Christian G

    2017-09-01

    Tuberculosis (TB) is a major threat to human health, especially in many developing countries. Human genetic variability has been recognised to be of great relevance in host responses to Mycobacterium tuberculosis infection and in regulating both the establishment and the progression of the disease. An increasing number of candidate gene and genome-wide association studies (GWAS) have focused on human genetic factors contributing to susceptibility or resistance to TB. To update previous reviews on human genetic factors in TB we searched the MEDLINE database and PubMed for articles from 1 January 2014 through 31 March 2017 and reviewed the role of human genetic variability in TB. Search terms applied in various combinations were 'tuberculosis', 'human genetics', 'candidate gene studies', 'genome-wide association studies' and 'Mycobacterium tuberculosis'. Articles in English retrieved and relevant references cited in these articles were reviewed. Abstracts and reports from meetings were also included. This review provides a recent summary of associations of polymorphisms of human genes with susceptibility/resistance to TB. © 2017 John Wiley & Sons Ltd.

  6. An overview of human genetic privacy

    OpenAIRE

    Shi, Xinghua; Wu, Xintao

    2016-01-01

    The study of human genomics is becoming a Big Data science, owing to recent biotechnological advances leading to availability of millions of personal genome sequences, which can be combined with biometric measurements from mobile apps and fitness trackers, and of human behavior data monitored from mobile devices and social media. With increasing research opportunities for integrative genomic studies through data sharing, genetic privacy emerges as a legitimate yet challenging concern that nee...

  7. Over a Decade of recA and tly Gene Sequence Typing of the Skin Bacterium Propionibacterium acnes: What Have We Learnt?

    Directory of Open Access Journals (Sweden)

    Andrew McDowell

    2017-12-01

    Full Text Available The Gram-positive, anaerobic bacterium Propionibacterium acnes forms part of the normal microbiota on human skin and mucosal surfaces. While normally associated with skin health, P. acnes is also an opportunistic pathogen linked with a range of human infections and clinical conditions. Over the last decade, our knowledge of the intraspecies phylogenetics and taxonomy of this bacterium has increased tremendously due to the introduction of DNA typing schemes based on single and multiple gene loci, as well as whole genomes. Furthermore, this work has led to the identification of specific lineages associated with skin health and human disease. In this review we will look back at the introduction of DNA sequence typing of P. acnes based on recA and tly loci, and then describe how these methods provided a basic understanding of the population genetic structure of the bacterium, and even helped characterize the grapevine-associated lineage of P. acnes, known as P. acnes type Zappe, which appears to have undergone a host switch from humans-to-plants. Particular limitations of recA and tly sequence typing will also be presented, as well as a detailed discussion of more recent, higher resolution, DNA-based methods to type P. acnes and investigate its evolutionary history in greater detail.

  8. Combining Maize Base Germplasm for Cold Tolerance Breeding

    OpenAIRE

    Rodríguez Graña, Víctor Manuel; Butrón Gómez, Ana María; Sandoya Miranda, Germán; Ordás Pérez, Amando; Revilla Temiño, Pedro

    2007-01-01

    Early planting can contribute to increased grain yield of maize (Zea mays L.), but it requires cold tolerance. A limited number of cold-tolerant maize genotypes have been reported. The objectives of this study were to test a new strategy to improve cold tolerance in maize searching for broad x narrow genetic combinations that may be useful as base populations for breeding programs, to compare genotype performance under cold-controlled and field conditions, and to establish the major genetic e...

  9. [Genetic aspects of genealogy].

    Science.gov (United States)

    Tetushkin, E Iu

    2011-11-01

    The supplementary historical discipline genealogy is also a supplementary genetic discipline. In its formation, genetics borrowed from genealogy some methods of pedigree analysis. In the 21th century, it started receiving contribution from computer-aided genealogy and genetic (molecular) genealogy. The former provides novel tools for genetics, while the latter, which employing genetic methods, enriches genetics with new evidence. Genealogists formulated three main laws ofgenealogy: the law of three generations, the law of doubling the ancestry number, and the law of declining ancestry. The significance and meaning of these laws can be fully understood only in light of genetics. For instance, a controversy between the exponential growth of the number of ancestors of an individual, i.e., the law of doubling the ancestry number, and the limited number of the humankind is explained by the presence of weak inbreeding because of sibs' interference; the latter causes the pedigrees' collapse, i.e., explains also the law of diminishing ancestry number. Mathematic modeling of pedigrees' collapse presented in a number of studies showed that the number of ancestors of each individual attains maximum in a particular generation termed ancestry saturated generation. All representatives of this and preceding generation that left progeny are common ancestors of all current members of the population. In subdivided populations, these generations are more ancient than in panmictic ones, whereas in small isolates and social strata with limited numbers of partners, they are younger. The genealogical law of three generations, according to which each hundred years contain on average three generation intervals, holds for generation lengths for Y-chromosomal DNA, typically equal to 31-32 years; for autosomal and mtDNA, this time is somewhat shorter. Moving along ascending lineas, the number of genetically effective ancestors transmitting their DNA fragment to descendants increases far

  10. From observational to dynamic genetics

    Directory of Open Access Journals (Sweden)

    Claire M. A. Haworth

    2014-01-01

    Full Text Available Twin and family studies have shown that most traits are at least moderately heritable. But what are the implications of finding genetic influence for the design of intervention and prevention programs? For complex traits, heritability does not mean immutability, and research has shown that genetic influences can change with age, context and in response to behavioural and drug interventions. The most significant implications for intervention will come when we move from observational genetics to investigating dynamic genetics, including genetically sensitive interventions. Future interventions should be designed to overcome genetic risk and draw upon genetic strengths by changing the environment.

  11. Genetics of human hydrocephalus

    Science.gov (United States)

    Williams, Michael A.; Rigamonti, Daniele

    2006-01-01

    Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. Human hydrocephalus can be classified into two clinical forms, congenital and acquired. Hydrocephalus is one of the complex and multifactorial neurological disorders. A growing body of evidence indicates that genetic factors play a major role in the pathogenesis of hydrocephalus. An understanding of the genetic components and mechanism of this complex disorder may offer us significant insights into the molecular etiology of impaired brain development and an accumulation of the cerebrospinal fluid in cerebral compartments during the pathogenesis of hydrocephalus. Genetic studies in animal models have started to open the way for understanding the underlying pathology of hydrocephalus. At least 43 mutants/loci linked to hereditary hydrocephalus have been identified in animal models and humans. Up to date, 9 genes associated with hydrocephalus have been identified in animal models. In contrast, only one such gene has been identified in humans. Most of known hydrocephalus gene products are the important cytokines, growth factors or related molecules in the cellular signal pathways during early brain development. The current molecular genetic evidence from animal models indicate that in the early development stage, impaired and abnormal brain development caused by abnormal cellular signaling and functioning, all these cellular and developmental events would eventually lead to the congenital hydrocephalus. Owing to our very primitive knowledge of the genetics and molecular pathogenesis of human hydrocephalus, it is difficult to evaluate whether data gained from animal models can be extrapolated to humans. Initiation of a large population genetics study in humans will certainly provide invaluable information about the molecular and cellular etiology and the developmental mechanisms of human

  12. Advancing ecological understandings through technological transformations in noninvasive genetics.

    Science.gov (United States)

    Beja-Pereira, Albano; Oliveira, Rita; Alves, Paulo C; Schwartz, Michael K; Luikart, Gordon

    2009-09-01

    Noninvasive genetic approaches continue to improve studies in molecular ecology, conservation genetics and related disciplines such as forensics and epidemiology. Noninvasive sampling allows genetic studies without disturbing or even seeing the target individuals. Although noninvasive genetic sampling has been used for wildlife studies since the 1990s, technological advances continue to make noninvasive approaches among the most used and rapidly advancing areas in genetics. Here, we review recent advances in noninvasive genetics and how they allow us to address important research and management questions thanks to improved techniques for DNA extraction, preservation, amplification and data analysis. We show that many advances come from the fields of forensics, human health and domestic animal health science, and suggest that molecular ecologists explore literature from these fields. Finally, we discuss how the combination of advances in each step of a noninvasive genetics study, along with fruitful areas for future research, will continually increase the power and role of noninvasive genetics in molecular ecology and conservation genetics. © 2009 Blackwell Publishing Ltd.

  13. How Are Genetic Conditions Treated or Managed?

    Science.gov (United States)

    ... mtDNA Resources Help Me Understand Genetics Share: Email Facebook Twitter Home Help Me Understand Genetics Genetic Consultation How are genetic conditions treated or managed? How are genetic conditions treated or managed? Many ...

  14. Molecular and Genetic Determinants of Glioma Cell Invasion

    Directory of Open Access Journals (Sweden)

    Kenta Masui

    2017-12-01

    Full Text Available A diffusely invasive nature is a major obstacle in treating a malignant brain tumor, “diffuse glioma”, which prevents neurooncologists from surgically removing the tumor cells even in combination with chemotherapy and radiation. Recently updated classification of diffuse gliomas based on distinct genetic and epigenetic features has culminated in a multilayered diagnostic approach to combine histologic phenotypes and molecular genotypes in an integrated diagnosis. However, it is still a work in progress to decipher how the genetic aberrations contribute to the aggressive nature of gliomas including their highly invasive capacity. Here we depict a set of recent discoveries involving molecular genetic determinants of the infiltrating nature of glioma cells, especially focusing on genetic mutations in receptor tyrosine kinase pathways and metabolic reprogramming downstream of common cancer mutations. The specific biology of glioma cell invasion provides an opportunity to explore the genotype-phenotype correlation in cancer and develop novel glioma-specific therapeutic strategies for this devastating disease.

  15. Bridging the gap: Lessons we have learnt from the merging of psychology and psychiatry for the optimisation of treatments for emotional disorders.

    Science.gov (United States)

    Graham, Bronwyn M; Callaghan, Bridget L; Richardson, Rick

    2014-11-01

    In recent years the gap between psychological and psychiatric research and practice has lessened. In turn, greater attention has been paid toward how psychological and pharmacological treatments interact. Unfortunately, the majority of research has indicated no additive effect of anxiolytics and antidepressants when combined with psychological treatments, and in many cases pharmacological treatments attenuate the effectiveness of psychological treatments. However, as psychology and psychiatry have come closer together, research has started to investigate the neural and molecular mechanisms underlying psychological treatments. Such research has utilised preclinical models of psychological treatments, such as fear extinction, in both rodents and humans to determine multiple neural and molecular changes that may be responsible for the long-term cognitive and behavioural changes that psychological treatments induce. Currently, researchers are attempting to identify pharmacological agents that directly augment these neural/molecular changes, and which may be more effective adjuncts to psychological treatments than traditional anxiolytics and antidepressants. In this review we describe the research that has led to this new wave of thinking about combined psychological/pharmacological treatments. We also argue that an increased emphasis on identifying individual difference factors that predict the effectiveness of pharmacological adjuncts is critical in facilitating the translation of this preclinical research into clinical practice. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. Combinations of SNPs Related to Signal Transduction in Bipolar Disorder

    DEFF Research Database (Denmark)

    Koefoed, Pernille; Andreassen, Ole A; Bennike, Bente

    2011-01-01

    of complex diseases, it may be useful to look at combinations of genotypes. Genes related to signal transmission, e.g., ion channel genes, may be of interest in this respect in the context of bipolar disorder. In the present study, we analysed 803 SNPs in 55 genes related to aspects of signal transmission...... and calculated all combinations of three genotypes from the 3×803 SNP genotypes for 1355 controls and 607 patients with bipolar disorder. Four clusters of patient-specific combinations were identified. Permutation tests indicated that some of these combinations might be related to bipolar disorder. The WTCCC...... in the clusters in the two datasets. The present analyses of the combinations of SNP genotypes support a role for both genetic heterogeneity and interactions in the genetic architecture of bipolar disorder....

  17. Integrated genetic analysis microsystems

    International Nuclear Information System (INIS)

    Lagally, Eric T; Mathies, Richard A

    2004-01-01

    With the completion of the Human Genome Project and the ongoing DNA sequencing of the genomes of other animals, bacteria, plants and others, a wealth of new information about the genetic composition of organisms has become available. However, as the demand for sequence information grows, so does the workload required both to generate this sequence and to use it for targeted genetic analysis. Microfabricated genetic analysis systems are well poised to assist in the collection and use of these data through increased analysis speed, lower analysis cost and higher parallelism leading to increased assay throughput. In addition, such integrated microsystems may point the way to targeted genetic experiments on single cells and in other areas that are otherwise very difficult. Concomitant with these advantages, such systems, when fully integrated, should be capable of forming portable systems for high-speed in situ analyses, enabling a new standard in disciplines such as clinical chemistry, forensics, biowarfare detection and epidemiology. This review will discuss the various technologies available for genetic analysis on the microscale, and efforts to integrate them to form fully functional robust analysis devices. (topical review)

  18. Genetics of gallstone disease.

    Directory of Open Access Journals (Sweden)

    Mittal B

    2002-04-01

    Full Text Available Gallstone disease is a complex disorder where both environmental and genetic factors contribute towards susceptibility to the disease. Epidemiological and family studies suggest a strong genetic component in the causation of this disease. Several genetically derived phenotypes in the population are responsible for variations in lipoprotein types, which in turn affect the amount of cholesterol available in the gall bladder. The genetic polymorphisms in various genes for apo E, apo B, apo A1, LDL receptor, cholesteryl ester transfer and LDL receptor-associated protein have been implicated in gallstone formation. However, presently available information on genetic differences is not able to account for a large number of gallstone patients. The molecular studies in the animal models have not only confirmed the present paradigm of gallstone formation but also helped in identification of novel genes in humans, which might play an important role in pathogenesis of the disease. Precise understanding of such genes and their molecular mechanisms may provide the basis of new targets for rational drug designs and dietary interventions.

  19. Genetic classes and genetic categories : Protecting genetic groups through data protection law

    NARCIS (Netherlands)

    Hallinan, Dara; de Hert, Paul; Taylor, L.; Floridi, L.; van der Sloot, B.

    2017-01-01

    Each person shares genetic code with others. Thus, one individual’s genome can reveal information about other individuals. When multiple individuals share aspects of genetic architecture, they form a ‘genetic group’. From a social and legal perspective, two types of genetic group exist: Those which

  20. Multivariate Survival Mixed Models for Genetic Analysis of Longevity Traits

    DEFF Research Database (Denmark)

    Pimentel Maia, Rafael; Madsen, Per; Labouriau, Rodrigo

    2014-01-01

    A class of multivariate mixed survival models for continuous and discrete time with a complex covariance structure is introduced in a context of quantitative genetic applications. The methods introduced can be used in many applications in quantitative genetics although the discussion presented co...... applications. The methods presented are implemented in such a way that large and complex quantitative genetic data can be analyzed......A class of multivariate mixed survival models for continuous and discrete time with a complex covariance structure is introduced in a context of quantitative genetic applications. The methods introduced can be used in many applications in quantitative genetics although the discussion presented...... concentrates on longevity studies. The framework presented allows to combine models based on continuous time with models based on discrete time in a joint analysis. The continuous time models are approximations of the frailty model in which the hazard function will be assumed to be piece-wise constant...