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Sample records for genetic rescue effects

  1. The population genetics of evolutionary rescue.

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    H Allen Orr

    2014-08-01

    Full Text Available Evolutionary rescue occurs when a population that is threatened with extinction by an environmental change adapts to the change sufficiently rapidly to survive. Here we extend the mathematical theory of evolutionary rescue. In particular, we model evolutionary rescue to a sudden environmental change when adaptation involves evolution at a single locus. We consider adaptation using either new mutations or alleles from the standing genetic variation that begin rare. We obtain several results: i the total probability of evolutionary rescue from either new mutation or standing variation; ii the conditions under which rescue is more likely to involve a new mutation versus an allele from the standing genetic variation; iii a mathematical description of the U-shaped curve of total population size through time, conditional on rescue; and iv the time until the average population size begins to rebound as well as the minimal expected population size experienced by a rescued population. Our analysis requires taking into account a subtle population-genetic effect (familiar from the theory of genetic hitchhiking that involves "oversampling" of those lucky alleles that ultimately sweep to high frequency. Our results are relevant to conservation biology, experimental microbial evolution, and medicine (e.g., the dynamics of antibiotic resistance.

  2. Minimizing extinction risk through genetic rescue

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    Waite, T. A.

    2005-12-01

    Full Text Available According to the genetic rescue hypothesis, immigrants can improve population persistence through their genetic contribution alone. We investigate the potential for such rescue using small, inbred laboratory populations of the bean beetle (Callosobruchus maculatus. We ask how many migrants per generation (MPG are needed to minimize the genetic component of extinction risk. During Phase 1, population size was made to fluctuate between 6 and 60 (for 10 generations. During this phase, we manipulated the number of MPG, replacing 0, 1, 3, or 5 females every generation with immigrant females. During Phase 2, we simply set an upper limit on population size (.10. Compared with the 0-MPG treatment, the other treatments were equivalently effective at improving reproductive success and reducing extinction risk. A single MPG was sufficient for genetic rescue, apparently because effective migration rate was inflated dramatically during generations when population size was small. An analysis of quasi-extinction suggests that replicate populations in the 1-MPG treatment benefited from initial purging of inbreeding depression. Populations in this treatment performed so well apparently because they received the dual benefit of purging followed by genetic infusion. Our results suggest the need for further evaluation of alternative schemes for genetic rescue.

  3. Genetic rescue: a safe or risky bet?

    Science.gov (United States)

    Waller, Donald M

    2015-06-01

    Small and isolated populations face threats from genetic drift and inbreeding. To rescue populations from these threats, conservation biologists can augment gene flow into small populations to increase variation and reduce inbreeding depression. Spectacular success stories include greater prairie chickens in Illinois (Westermeier et al. ), adders in Sweden (Madsen et al. ) and panthers in Florida (Johnson et al. ). However, we also know that performing such crosses risks introducing genes that may be poorly adapted to local conditions or genetic backgrounds. A classic example of such 'outbreeding depression' occurred when different subspecies of ibex from Turkey and the Sinai were introduced to assist recovery of an ibex population in Czechoslovakia (Templeton ). Despite being fertile, the hybrids birthed calves too early, causing the whole population to disappear. In the face of uncertainty, conservation biologists have tended to respect genetic identity, shying away from routinely crossing populations. In this issue of Molecular Ecology, Frankham () compiles empirical data from experimental studies to assess the costs and benefits of between-population crosses (Fig. ). Crosses screened to exclude those involving highly divergent populations or distinct habitats show large heterosis with few apparent risks of outbreeding depression. This leads Frankham to advocate for using assisted gene flow more widely. But do the studies analysed in this meta-analysis adequately test for latent outcrossing depression?

  4. Experimental test of genetic rescue in isolated populations of brook trout

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    Robinson, Zachary L.; Coombs, Jason A.; Hudy, Mark; Nislow, Keith H.; Letcher, Benjamin H.; Whiteley, Andrew R.

    2017-01-01

    Genetic rescue is an increasingly considered conservation measure to address genetic erosion associated with habitat loss and fragmentation. The resulting gene flow from facilitating migration may improve fitness and adaptive potential, but is not without risks (e.g., outbreeding depression). Here, we conducted a test of genetic rescue by translocating ten (five of each sex) brook trout (Salvelinus fontinalis) from a single source to four nearby and isolated stream populations. To control for the demographic contribution of translocated individuals, ten resident individuals (five of each sex) were removed from each recipient population. Prior to the introduction of translocated individuals, the two smallest above-barrier populations had substantially lower genetic diversity, and all populations had reduced effective number of breeders relative to adjacent below-barrier populations. In the first reproductive bout following translocation, 31 of 40 (78%) translocated individuals reproduced successfully. Translocated individuals contributed to more families than expected under random mating and generally produced larger full-sibling families. We observed relatively high (>20%) introgression in three of the four recipient populations. The translocations increased genetic diversity of recipient populations by 45% in allelic richness and 25% in expected heterozygosity. Additionally, strong evidence of hybrid vigour was observed through significantly larger body sizes of hybrid offspring relative to resident offspring in all recipient populations. Continued monitoring of these populations will test for negative fitness effects beyond the first generation. However, these results provide much-needed experimental data to inform the potential effectiveness of genetic rescue-motivated translocations.

  5. Rescue Effects: Irradiated Cells Helped by Unirradiated Bystander Cells

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    Lam, R. K. K.; Fung, Y. K.; Han, W.; Yu, K. N.

    2015-01-01

    The rescue effect describes the phenomenon where irradiated cells or organisms derive benefits from the feedback signals sent from the bystander unirradiated cells or organisms. An example of the benefit is the mitigation of radiation-induced DNA damages in the irradiated cells. The rescue effect can compromise the efficacy of radioimmunotherapy (RIT) (and actually all radiotherapy). In this paper, the discovery and subsequent confirmation studies on the rescue effect were reviewed. The mechanisms and the chemical messengers responsible for the rescue effect studied to date were summarized. The rescue effect between irradiated and bystander unirradiated zebrafish embryos in vivo sharing the same medium was also described. In the discussion section, the mechanism proposed for the rescue effect involving activation of the nuclear factor κB (NF-κB) pathway was scrutinized. This mechanism could explain the promotion of cellular survival and correct repair of DNA damage, dependence on cyclic adenosine monophosphate (cAMP) and modulation of intracellular reactive oxygen species (ROS) level in irradiated cells. Exploitation of the NF-κB pathway to improve the effectiveness of RIT was proposed. Finally, the possibility of using zebrafish embryos as the model to study the efficacy of RIT in treating solid tumors was also discussed. PMID:25625514

  6. A new brain dopamine-deficient Drosophila and its pharmacological and genetic rescue.

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    Cichewicz, K; Garren, E J; Adiele, C; Aso, Y; Wang, Z; Wu, M; Birman, S; Rubin, G M; Hirsh, J

    2017-03-01

    Dopamine (DA) is a neurotransmitter with conserved behavioral roles between invertebrate and vertebrate animals. In addition to its neural functions, in insects DA is a critical substrate for cuticle pigmentation and hardening. Drosophila tyrosine hydroxylase (DTH) is the rate limiting enzyme for DA biosynthesis. Viable brain DA-deficient flies were previously generated using tissue-selective GAL4-UAS binary expression rescue of a DTH null mutation and these flies show specific behavioral impairments. To circumvent the limitations of rescue via binary expression, here we achieve rescue utilizing genomically integrated mutant DTH. As expected, our DA-deficient flies have no detectable DTH or DA in the brain, and show reduced locomotor activity. This deficit can be rescued by l-DOPA/carbidopa feeding, similar to human Parkinson's disease treatment. Genetic rescue via GAL4/UAS-DTH was also successful, although this required the generation of a new UAS-DTH1 transgene devoid of most untranslated regions, as existing UAS-DTH transgenes express in the brain without a Gal4 driver via endogenous regulatory elements. A surprising finding of our newly constructed UAS-DTH1m is that it expresses DTH at an undetectable level when regulated by dopaminergic GAL4 drivers even when fully rescuing DA, indicating that DTH immunostaining is not necessarily a valid marker for DA expression. This finding necessitated optimizing DA immunohistochemistry, showing details of DA innervation to the mushroom body and the central complex. When DA rescue is limited to specific DA neurons, DA does not diffuse beyond the DTH-expressing terminals, such that DA signaling can be limited to very specific brain regions. © 2016 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

  7. Genetic rescue of an endangered domestic animal through outcrossing with closely related breeds

    DEFF Research Database (Denmark)

    Strønen, Astrid Vik; Salmela, Elina; Baldursdottir, Birna K.

    2017-01-01

    Genetic rescue, outcrossing with individuals from a related population, is used to augment genetic diversity in populations threatened by severe inbreeding and extinction. The endangered Norwegian Lundehund dog underwent at least two severe bottlenecks in the 1940s and 1960s that each left only......: Norwegian Buhund, Icelandic Sheepdog, and Norrbottenspets. Examination of single nucleotide polymorphism (SNP) genotypes based on 165K loci in 48 dogs from the four breeds revealed substantially lower genetic diversity for the Lundehund (HE 0.035) than for other breeds (HE 0.209-0.284). Analyses of genetic...... structure with > 15K linkage disequilibrium-pruned SNPs showed four distinct genetic clusters. Pairwise FST values between Lundehund and the candidate breeds were highest for Icelandic Sheepdog, followed by Buhund and Norrbottenspets. We assessed the presence of outlier loci among candidate breeds...

  8. Use of Recombination-Mediated Genetic Engineering for Construction of Rescue Human Cytomegalovirus Bacterial Artificial Chromosome Clones

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    Kalpana Dulal

    2012-01-01

    Full Text Available Bacterial artificial chromosome (BAC technology has contributed immensely to manipulation of larger genomes in many organisms including large DNA viruses like human cytomegalovirus (HCMV. The HCMV BAC clone propagated and maintained inside E. coli allows for accurate recombinant virus generation. Using this system, we have generated a panel of HCMV deletion mutants and their rescue clones. In this paper, we describe the construction of HCMV BAC mutants using a homologous recombination system. A gene capture method, or gap repair cloning, to seize large fragments of DNA from the virus BAC in order to generate rescue viruses, is described in detail. Construction of rescue clones using gap repair cloning is highly efficient and provides a novel use of the homologous recombination-based method in E. coli for molecular cloning, known colloquially as recombineering, when rescuing large BAC deletions. This method of excising large fragments of DNA provides important prospects for in vitro homologous recombination for genetic cloning.

  9. Optimal hostage rescue problem where action can only be taken once : case where effect vanishes thereafter

    OpenAIRE

    Shi, Fengbo

    2001-01-01

    we propose the following model for optimal rescue problems concerning hostages. Suppose that a person is taken as a hostage and that a decision has to be made from among three alternatives: rescuing, no rescuing, or taking one action which will save the situation. It is assumed that the action can only be taken once and it will be effective only at that time, i.e., the effect vanishes thereafter. The objective here is to find the optimal decision rule so as to maximize the probability of the ...

  10. Allelic asymmetry of the Lethal hybrid rescue (Lhr) gene expression in the hybrid between Drosophila melanogaster and D. simulans: confirmation by using genetic variations of D. melanogaster.

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    Shirata, Mika; Araye, Quenta; Maehara, Kazunori; Enya, Sora; Takano-Shimizu, Toshiyuki; Sawamura, Kyoichi

    2014-02-01

    In the cross between Drosophila melanogaster females and D. simulans males, hybrid males die at the late larval stage, and the sibling females also die at later stages at high temperatures. Removing the D. simulans allele of the Lethal hybrid rescue gene (Lhr (sim) ) improves the hybrid incompatibility phenotypes. However, the loss-of-function mutation of Lhr (sim) (Lhr (sim0) ) does not rescue the hybrid males in crosses with several D. melanogaster strains. We first describe the genetic factor possessed by the D. melanogaster strains. It has been suggested that removing the D. melanogaster allele of Lhr (Lhr (mel) ), that is Lhr (mel0) , does not have the hybrid male rescue effect, contrasting to Lhr (sim0) . Because the expression level of the Lhr gene is known to be Lhr (sim) > Lhr (mel) in the hybrid, Lhr (mel0) may not lead to enough of a reduction in total Lhr expression. Then, there is a possibility that the D. melanogaster factor changes the expression level to Lhr (sim) Lhr (mel) in the hybrid irrespectively of the presence of the factor. At last, we showed that Lhr (mel0) slightly improves the viability of hybrid females, which was not realized previously. All of the present results are consistent with the allelic asymmetry model of the Lhr gene expression in the hybrid.

  11. A screen for F1 hybrid male rescue reveals no major-effect hybrid lethality loci in the Drosophila melanogaster autosomal genome.

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    Cuykendall, Tawny N; Satyaki, P; Ji, Shuqing; Clay, Derek M; Edelman, Nathaniel B; Kimchy, Alexandra; Li, Ling-Hei; Nuzzo, Erin A; Parekh, Neil; Park, Suna; Barbash, Daniel A

    2014-10-27

    Hybrid sons between Drosophila melanogaster females and D. simulans males die as 3rd instar larvae. Two genes, D. melanogaster Hybrid male rescue (Hmr) on the X chromosome, and D. simulans Lethal hybrid rescue (Lhr) on chromosome II, interact to cause this lethality. Loss-of-function mutations in either gene suppress lethality, but several pieces of evidence suggest that additional factors are required for hybrid lethality. Here we screen the D. melanogaster autosomal genome by using the Bloomington Stock Center Deficiency kit to search for additional regions that can rescue hybrid male lethality. Our screen is designed to identify putative hybrid incompatibility (HI) genes similar to Hmr and Lhr which, when removed, are dominant suppressors of lethality. After screening 89% of the autosomal genome, we found no regions that rescue males to the adult stage. We did, however, identify several regions that rescue up to 13% of males to the pharate adult stage. This weak rescue suggests the presence of multiple minor-effect HI loci, but we were unable to map these loci to high resolution, presumably because weak rescue can be masked by genetic background effects. We attempted to test one candidate, the dosage compensation gene male specific lethal-3 (msl-3), by using RNA interference with short hairpin microRNA constructs targeted specifically against D. simulans msl-3 but failed to achieve knockdown, in part due to off-target effects. We conclude that the D. melanogaster autosomal genome likely does not contain additional major-effect HI loci. We also show that Hmr is insufficient to fully account for the lethality associated with the D. melanogaster X chromosome, suggesting that additional X-linked genes contribute to hybrid lethality. Copyright © 2014 Cuykendall et al.

  12. Persistence in epidemic metapopulations: quantifying the rescue effects for measles, mumps, rubella and whooping cough.

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    Metcalf, C Jessica E; Hampson, Katie; Tatem, Andrew J; Grenfell, Bryan T; Bjørnstad, Ottar N

    2013-01-01

    Metapopulation rescue effects are thought to be key to the persistence of many acute immunizing infections. Yet the enhancement of persistence through spatial coupling has not been previously quantified. Here we estimate the metapopulation rescue effects for four childhood infections using global WHO reported incidence data by comparing persistence on island countries vs all other countries, while controlling for key variables such as vaccine cover, birth rates and economic development. The relative risk of extinction on islands is significantly higher, and approximately double the risk of extinction in mainland countries. Furthermore, as may be expected, infections with longer infectious periods tend to have the strongest metapopulation rescue effects. Our results quantitate the notion that demography and local community size controls disease persistence.

  13. Persistence in epidemic metapopulations: quantifying the rescue effects for measles, mumps, rubella and whooping cough.

    Directory of Open Access Journals (Sweden)

    C Jessica E Metcalf

    Full Text Available Metapopulation rescue effects are thought to be key to the persistence of many acute immunizing infections. Yet the enhancement of persistence through spatial coupling has not been previously quantified. Here we estimate the metapopulation rescue effects for four childhood infections using global WHO reported incidence data by comparing persistence on island countries vs all other countries, while controlling for key variables such as vaccine cover, birth rates and economic development. The relative risk of extinction on islands is significantly higher, and approximately double the risk of extinction in mainland countries. Furthermore, as may be expected, infections with longer infectious periods tend to have the strongest metapopulation rescue effects. Our results quantitate the notion that demography and local community size controls disease persistence.

  14. Exercise and Genetic Rescue of SCA1 via the Transcriptional Repressor Capicua*

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    Fryer, John D.; Yu, Peng; Kang, Hyojin; Mandel-Brehm, Caleigh; Carter, Angela N.; Crespo-Barreto, Juan; Gao, Yan; Flora, Adriano; Shaw, Chad; Orr, Harry T.; Zoghbi, Huda Y.

    2011-01-01

    Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodegenerative disease caused by expansion of a translated CAG repeat in Ataxin-1 (ATXN1). To determine the long-term effects of exercise, we implemented a mild exercise regimen in a mouse model of SCA1 and found a considerable improvement in survival accompanied by upregulation of epidermal growth factor and consequential downregulation of Capicua, an ATXN1 interactor. Offspring of Capicua mutant mice bred to SCA1 mice showed significant improvement of all disease phenotypes. Although polyglutamine-expanded Atxn1 caused some loss of Capicua function, further reducing Capicua levels, either genetically or by exercise, mitigated the disease phenotypes. Thus, exercise might have long-term beneficial effects in other ataxias and neurodegenerative diseases. PMID:22053053

  15. Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice.

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    Palma, Elena; Tiepolo, Tania; Angelin, Alessia; Sabatelli, Patrizia; Maraldi, Nadir M; Basso, Emy; Forte, Michael A; Bernardi, Paolo; Bonaldo, Paolo

    2009-06-01

    Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy are inherited muscle disorders caused by mutations of genes encoding the extracellular matrix protein collagen VI (ColVI). Mice lacking ColVI (Col6a1(-/-)) display a myopathic phenotype associated with ultrastructural alterations of mitochondria and sarcoplasmic reticulum, mitochondrial dysfunction with abnormal opening of the permeability transition pore (PTP) and increased apoptosis of muscle fibers. Treatment with cyclosporin (Cs) A, a drug that desensitizes the PTP by binding to cyclophilin (Cyp)-D, was shown to rescue myofiber alterations in Col6a1(-/-) mice and in UCMD patients, suggesting a correlation between PTP opening and pathogenesis of ColVI muscular dystrophies. Here, we show that inactivation of the gene encoding for Cyp-D rescues the disease phenotype of ColVI deficiency. In the absence of Cyp-D, Col6a1(-/-) mice show negligible myofiber degeneration, rescue from mitochondrial dysfunction and ultrastructural defects, and normalized incidence of apoptosis. These findings (i) demonstrate that lack of Cyp-D is equivalent to its inhibition with CsA at curing the mouse dystrophic phenotype; (ii) establish a cause-effect relationship between Cyp-D-dependent PTP regulation and pathogenesis of the ColVI muscular dystrophy and (iii) validate Cyp-D and the PTP as pharmacological targets for the therapy of human ColVI myopathies.

  16. Genetic rescue persists beyond first-generation outbreeding in small populations of a rare plant

    National Research Council Canada - National Science Library

    Yvonne Willi; Mark van Kleunen; Stefan Dietrich; Markus Fischer

    2007-01-01

    .... Stocking small populations with individuals from other populations may enrich genetic variation and alleviate inbreeding, but such artificial gene flow is not commonly used in conservation owing...

  17. Endoplasmic Reticulum-Targeted Subunit Toxins Provide a New Approach to Rescue Misfolded Mutant Proteins and Revert Cell Models of Genetic Diseases.

    Science.gov (United States)

    Adnan, Humaira; Zhang, Zhenbo; Park, Hyun-Joo; Tailor, Chetankumar; Che, Clare; Kamani, Mustafa; Spitalny, George; Binnington, Beth; Lingwood, Clifford

    2016-01-01

    Many germ line diseases stem from a relatively minor disturbance in mutant protein endoplasmic reticulum (ER) 3D assembly. Chaperones are recruited which, on failure to correct folding, sort the mutant for retrotranslocation and cytosolic proteasomal degradation (ER-associated degradation-ERAD), to initiate/exacerbate deficiency-disease symptoms. Several bacterial (and plant) subunit toxins, retrograde transport to the ER after initial cell surface receptor binding/internalization. The A subunit has evolved to mimic a misfolded protein and hijack the ERAD membrane translocon (dislocon), to effect cytosolic access and cytopathology. We show such toxins compete for ERAD to rescue endogenous misfolded proteins. Cholera toxin or verotoxin (Shiga toxin) containing genetically inactivated (± an N-terminal polyleucine tail) A subunit can, within 2-4 hrs, temporarily increase F508delCFTR protein, the major cystic fibrosis (CF) mutant (5-10x), F508delCFTR Golgi maturation (protein misfolding diseases.

  18. Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides.

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    Sztainberg, Yehezkel; Chen, Hong-mei; Swann, John W; Hao, Shuang; Tang, Bin; Wu, Zhenyu; Tang, Jianrong; Wan, Ying-Wooi; Liu, Zhandong; Rigo, Frank; Zoghbi, Huda Y

    2015-12-03

    Copy number variations have been frequently associated with developmental delay, intellectual disability and autism spectrum disorders. MECP2 duplication syndrome is one of the most common genomic rearrangements in males and is characterized by autism, intellectual disability, motor dysfunction, anxiety, epilepsy, recurrent respiratory tract infections and early death. The broad range of deficits caused by methyl-CpG-binding protein 2 (MeCP2) overexpression poses a daunting challenge to traditional biochemical-pathway-based therapeutic approaches. Accordingly, we sought strategies that directly target MeCP2 and are amenable to translation into clinical therapy. The first question that we addressed was whether the neurological dysfunction is reversible after symptoms set in. Reversal of phenotypes in adult symptomatic mice has been demonstrated in some models of monogenic loss-of-function neurological disorders, including loss of MeCP2 in Rett syndrome, indicating that, at least in some cases, the neuroanatomy may remain sufficiently intact so that correction of the molecular dysfunction underlying these disorders can restore healthy physiology. Given the absence of neurodegeneration in MECP2 duplication syndrome, we propose that restoration of normal MeCP2 levels in MECP2 duplication adult mice would rescue their phenotype. By generating and characterizing a conditional Mecp2-overexpressing mouse model, here we show that correction of MeCP2 levels largely reverses the behavioural, molecular and electrophysiological deficits. We also reduced MeCP2 using an antisense oligonucleotide strategy, which has greater translational potential. Antisense oligonucleotides are small, modified nucleic acids that can selectively hybridize with messenger RNA transcribed from a target gene and silence it, and have been successfully used to correct deficits in different mouse models. We find that antisense oligonucleotide treatment induces a broad phenotypic rescue in adult

  19. Similar patterns of mitochondrial vulnerability and rescue induced by genetic modification of alpha-synuclein, parkin, and DJ-1 in Caenorhabditis elegans.

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    Ved, Rina; Saha, Shamol; Westlund, Beth; Perier, Celine; Burnam, Lucinda; Sluder, Anne; Hoener, Marius; Rodrigues, Cecilia M P; Alfonso, Aixa; Steer, Clifford; Liu, Leo; Przedborski, Serge; Wolozin, Benjamin

    2005-12-30

    How genetic and environmental factors interact in Parkinson disease is poorly understood. We have now compared the patterns of vulnerability and rescue of Caenorhabditis elegans with genetic modifications of three different genetic factors implicated in Parkinson disease (PD). We observed that expressing alpha-synuclein, deleting parkin (K08E3.7), or knocking down DJ-1 (B0432.2) or parkin produces similar patterns of pharmacological vulnerability and rescue. C. elegans lines with these genetic changes were more vulnerable than nontransgenic nematodes to mitochondrial complex I inhibitors, including rotenone, fenperoximate, pyridaben, or stigmatellin. In contrast, the genetic manipulations did not increase sensitivity to paraquat, sodium azide, divalent metal ions (Fe(II) or Cu(II)), or etoposide compared with the nontransgenic nematodes. Each of the PD-related lines was also partially rescued by the antioxidant probucol, the mitochondrial complex II activator, D-beta-hydroxybutyrate, or the anti-apoptotic bile acid tauroursodeoxycholic acid. Complete protection in all lines was achieved by combining d-beta-hydroxybutyrate with tauroursodeoxycholic acid but not with probucol. These results show that diverse PD-related genetic modifications disrupt the mitochondrial function in C. elegans, and they raise the possibility that mitochondrial disruption is a pathway shared in common by many types of familial PD.

  20. RESCUE OF CACAO GENETIC RESOURCES RELATED TO THE NACIONAL VARIETY: SURVEYS IN THE ECUADORIAN AMAZON (2010-2013

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    Rey Gastón Loor Solorzano

    2015-10-01

    Full Text Available Traditional cocoa plantations in Ecuador are mostly composed of a complex mix of highly variable hybrid progenies, which has greatly reduced the population of native trees of the “Nacional” variety, to such a point that they are considered today as heading for extinction, which is increasingly worrying the international chocolate industry. Some years ago, we used genetic molecular markers to identify trees considered to be relics of the ancient original population of the “Nacional” variety, and some wild cocoa trees in a particular region of the southern Ecuadorian Amazon were identified as highly related to the “Nacional” variety. This paper presents the results of two surveys carried out in the southern Ecuadorian Amazon, in the Zamora-Chinchipe Province, in 2010 and 2013. The objective of these surveys was to search for, identify and rescue cocoa trees that might be the wild ancestors of the “Nacional” variety. In 2010, 83 mother trees were collected (budwood, pods and leaves and 48 in 2013. They were preserved at the Granja Domono experimental farm, near Macas (Morona-Santiago province and at the Tropical Experimental station Pichilingue, near Quevedo. The trees collected are currently being characterized for their genetic diversity, using molecular markers, and for the biochemical diversity of their beans.

  1. The emergence of the rescue effect from explicit within and between-patch dynamics in a metapopulation

    KAUST Repository

    Eriksson, Anders

    2014-02-12

    Immigration can rescue local populations from extinction, helping to stabilize a metapopulation. Local population dynamics is important for determining the strength of this rescue effect, but the mechanistic link between local demographic parameters and the rescue effect at the metapopulation level has received very little attention by modellers. We develop an analytical framework that allows us to describe the emergence of the rescue effect from interacting local stochastic dynamics. We show this framework to be applicable to a wide range of spatial scales, providing a powerful and convenient alternative to individual-based models for making predictions concerning the fate of metapopulations. We show that the rescue effect plays an important role in minimizing the increase in local extinction probability associated with high demographic stochasticity, but its role is more limited in the case of high local environmental stochasticity of recruitment or survival. While most models postulate the rescue effect, our framework provides an explicit mechanistic link between local dynamics and the emergence of the rescue effect, and more generally the stability of the whole metapopulation. © 2014 The Author(s) Published by the Royal Society. All rights reserved.

  2. Rescue effects in radiobiology: Unirradiated bystander cells assist irradiated cells through intercellular signal feedback

    Energy Technology Data Exchange (ETDEWEB)

    Chen, S. [Department of Physics and Materials Science, City University of Hong Kong, Tat Chee Avenue, Kowloon Tong (Hong Kong); Key Laboratory of Ion Beam Bioengineering, Institute of Plasma Physics, Chinese Academy of Sciences, Hefei 230031 (China); Zhao, Y. [Key Laboratory of Ion Beam Bioengineering, Institute of Plasma Physics, Chinese Academy of Sciences, Hefei 230031 (China); Han, W. [Department of Physics and Materials Science, City University of Hong Kong, Tat Chee Avenue, Kowloon Tong (Hong Kong); Chiu, S.K. [Department of Biology and Chemistry, City University of Hong Kong, Tat Chee Avenue, Kowloon Tong (Hong Kong); Zhu, L. [Office of Admission and Careers Advisory Service, Shenzhen University, Shenzhen 518060 (China); Wu, L. [Key Laboratory of Ion Beam Bioengineering, Institute of Plasma Physics, Chinese Academy of Sciences, Hefei 230031 (China); Yu, K.N., E-mail: peter.yu@cityu.edu.hk [Department of Physics and Materials Science, City University of Hong Kong, Tat Chee Avenue, Kowloon Tong (Hong Kong)

    2011-01-10

    Mammalian cells respond to ionization radiation by sending out extracellular signals to affect non-irradiated neighboring cells, which is referred to as radiation induced bystander effect. In the present paper, we described a phenomenon entitled the 'rescue effects', where the bystander cells rescued the irradiated cells through intercellular signal feedback. The effect was observed in both human primary fibroblast (NHLF) and cancer cells (HeLa) using two-cell co-culture systems. After co-culturing irradiated cells with unirradiated bystander cells for 24 h, the numbers of 53BP1 foci, corresponding to the number of DNA double-strand breaks in the irradiated cells were less than those in the irradiated cells that were not co-cultured with the bystander cells (0.78 {+-} 0.04 foci/cell vs. 0.90 {+-} 0.04 foci/cell) at a statistically significant level. Similarly, both micronucleus formation and extent of apoptosis in the irradiated cells were different at statistically significant levels if they were co-cultured with the bystander cells. Furthermore, it was found that unirradiated normal cells would also reduce the micronucleus formation in irradiated cancer cells. These results suggested that the rescue effects could participate in repairing the radiation-induced DNA damages through a media-mediated signaling feedback, thereby mitigating the cytotoxicity and genotoxicity of ionizing radiation.

  3. Endoplasmic Reticulum-Targeted Subunit Toxins Provide a New Approach to Rescue Misfolded Mutant Proteins and Revert Cell Models of Genetic Diseases

    Science.gov (United States)

    Park, Hyun-Joo; Tailor, Chetankumar; Che, Clare; Kamani, Mustafa; Spitalny, George; Binnington, Beth

    2016-01-01

    Many germ line diseases stem from a relatively minor disturbance in mutant protein endoplasmic reticulum (ER) 3D assembly. Chaperones are recruited which, on failure to correct folding, sort the mutant for retrotranslocation and cytosolic proteasomal degradation (ER-associated degradation-ERAD), to initiate/exacerbate deficiency-disease symptoms. Several bacterial (and plant) subunit toxins, retrograde transport to the ER after initial cell surface receptor binding/internalization. The A subunit has evolved to mimic a misfolded protein and hijack the ERAD membrane translocon (dislocon), to effect cytosolic access and cytopathology. We show such toxins compete for ERAD to rescue endogenous misfolded proteins. Cholera toxin or verotoxin (Shiga toxin) containing genetically inactivated (± an N-terminal polyleucine tail) A subunit can, within 2–4 hrs, temporarily increase F508delCFTR protein, the major cystic fibrosis (CF) mutant (5-10x), F508delCFTR Golgi maturation (chloride transport (2x) in F508del CFTR transfected cells and patient-derived F508delCFTR bronchiolar epithelia, without apparent cytopathology. These toxoids also increase glucocerobrosidase (GCC) in N370SGCC Gaucher Disease fibroblasts (3x), another ERAD–exacerbated misfiling disease. We identify a new, potentially benign approach to the treatment of certain genetic protein misfolding diseases. PMID:27935997

  4. Genetic removal of matrix metalloproteinase 9 rescues the symptoms of fragile X syndrome in a mouse model.

    Science.gov (United States)

    Sidhu, Harpreet; Dansie, Lorraine E; Hickmott, Peter W; Ethell, Douglas W; Ethell, Iryna M

    2014-07-23

    Fmr1 knock-out (ko) mice display key features of fragile X syndrome (FXS), including delayed dendritic spine maturation and FXS-associated behaviors, such as poor socialization, obsessive-compulsive behavior, and hyperactivity. Here we provide conclusive evidence that matrix metalloproteinase-9 (MMP-9) is necessary to the development of FXS-associated defects in Fmr1 ko mice. Genetic disruption of Mmp-9 rescued key aspects of Fmr1 deficiency, including dendritic spine abnormalities, abnormal mGluR5-dependent LTD, as well as aberrant behaviors in open field and social novelty tests. Remarkably, MMP-9 deficiency also corrected non-neural features of Fmr1 deficiency-specifically macroorchidism-indicating that MMP-9 dysregulation contributes to FXS-associated abnormalities outside the CNS. Further, MMP-9 deficiency suppressed elevations of Akt, mammalian target of rapamycin, and eukaryotic translation initiation factor 4E phosphorylation seen in Fmr1 ko mice, which are also associated with other autistic spectrum disorders. These findings establish that MMP-9 is critical to the mechanisms responsible for neural and non-neural aspects of the FXS phenotype.

  5. Rescue Effects and Underlying Mechanisms of Intragland Shh Gene Delivery on Irradiation-Induced Hyposalivation.

    Science.gov (United States)

    Hai, Bo; Zhao, Qingguo; Qin, Lizheng; Rangaraj, Dharanipathy; Gutti, Veera R; Liu, Fei

    2016-05-01

    Irreversible hypofunction of salivary glands is common in head and neck cancer survivors treated with radiotherapy and can only be temporarily relieved with current treatments. We found in an inducible sonic hedgehog (Shh) transgenic mouse model that transient activation of the Hedgehog pathway after irradiation rescued salivary gland function in males by preserving salivary stem/progenitor cells and parasympathetic innervation. To translate these findings into feasible clinical application, we evaluated the effects of Shh gene transfer to salivary glands of wild-type mice on irradiation-induced hyposalivation. Shh or control GFP gene was delivered by noninvasive retrograde ductal instillation of corresponding adenoviral vectors. In both male and female mice, Shh gene delivery efficiently activated Hedgehog/Gli signaling, and significantly improved stimulated saliva secretion and preserved saliva-producing acinar cells after irradiation. In addition to preserving parasympathetic innervation through induction of neurotrophic factors, Shh gene delivery also alleviated the irradiation damage of the microvasculature, likely via inducing angiogenic factors, but did not expand the progeny of cells responsive to Hedgehog/Gli signaling. These data indicate that transient activation of the Hedgehog pathway by gene delivery is promising to rescue salivary function after irradiation in both sexes, and the Hedgehog/Gli pathway may function mainly in cell nonautonomous manners to achieve the rescue effect.

  6. Evaluation of the Effects of Standard Rescue Procedure on Severe Trauma Treatment in China

    Institute of Scientific and Technical Information of China (English)

    Xiao-Feng Yin; Tian-Bing Wang; Pei-Xun Zhang; Yu-Hui Kou; Dian-Ying Zhang; Kai Yu; De-Cheng Lyu

    2015-01-01

    Background:This study aimed to evaluate the effects of standard rescue procedure (SRP) in improving severe trauma treatments in China.Methods:This study was conducted in 12 hospitals located in geographically and industrially different cities in China.A standard procedure on severe trauma rescue was established as a general rule for staff training and patient treatment.A regional network (system) efficiently integrating prehospital rescue,emergency room treatments,and hospital specialist treatments was built under the rule for information sharing and improving severe trauma treatments.Treatment outcomes were compared between before and I year after the implementation of the SRP.Results:The outcomes of a total of 74,615 and 12,051 trauma cases were collected from 12 hospitals before and after the implementation of the SRP.Implementation of the SRP led to efficient cooperation and information sharing of different treatment services.The emergency response time,prehospital transit time,emergency rescue time,consultation call time,and mortality rate of patients were 24.24 ± 4.32 min,45.69 ± 3.89 min,6.38 ± 1.05 min,17.53 ± 0.72 min,and 33.82% ± 3.87% (n =441),respectively,before the implementation of the standardization and significantly reduced to 10.11 ± 3.21 min,22.39 ± 4.32 min,3.26 ± 0.89 min,3.45 ± 0.45 min,and 20.49% ± 3.11%,separately (n =495,P < 0.05) after that.Conclusions:Staff training and SRP can significantly improve the efficiency of severe trauma treatments in China.

  7. Genetically engineered excitable cardiac myofibroblasts coupled to cardiomyocytes rescue normal propagation and reduce arrhythmia complexity in heterocellular monolayers.

    Directory of Open Access Journals (Sweden)

    Luqia Hou

    Full Text Available RATIONALE AND OBJECTIVE: The use of genetic engineering of unexcitable cells to enable expression of gap junctions and inward rectifier potassium channels has suggested that cell therapies aimed at establishing electrical coupling of unexcitable donor cells to host cardiomyocytes may be arrhythmogenic. Whether similar considerations apply when the donor cells are electrically excitable has not been investigated. Here we tested the hypothesis that adenoviral transfer of genes coding Kir2.1 (I(K1, Na(V1.5 (I(Na and connexin-43 (Cx43 proteins into neonatal rat ventricular myofibroblasts (NRVF will convert them into fully excitable cells, rescue rapid conduction velocity (CV and reduce the incidence of complex reentry arrhythmias in an in vitro model. METHODS AND RESULTS: We used adenoviral (Ad- constructs encoding Kir2.1, Na(V1.5 and Cx43 in NRVF. In single NRVF, Ad-Kir2.1 or Ad-Na(V1.5 infection enabled us to regulate the densities of I(K1 and I(Na, respectively. At varying MOI ratios of 10/10, 5/10 and 5/20, NRVF co-infected with Ad-Kir2.1+ Na(V1.5 were hyperpolarized and generated action potentials (APs with upstroke velocities >100 V/s. However, when forming monolayers only the addition of Ad-Cx43 made the excitable NRVF capable of conducting electrical impulses (CV = 20.71±0.79 cm/s. When genetically engineered excitable NRVF overexpressing Kir2.1, Na(V1.5 and Cx43 were used to replace normal NRVF in heterocellular monolayers that included neonatal rat ventricular myocytes (NRVM, CV was significantly increased (27.59±0.76 cm/s vs. 21.18±0.65 cm/s, p<0.05, reaching values similar to those of pure myocytes monolayers (27.27±0.72 cm/s. Moreover, during reentry, propagation was faster and more organized, with a significantly lower number of wavebreaks in heterocellular monolayers formed by excitable compared with unexcitable NRVF. CONCLUSION: Viral transfer of genes coding Kir2.1, Na(V1.5 and Cx43 to cardiac myofibroblasts endows them with

  8. Analysis of factors related to military training injury and the effect of self-rescue and buddy rescue on the final result of the injury in tank crew of the armored forces

    Directory of Open Access Journals (Sweden)

    Rong-bin ZHOU

    2011-09-01

    Full Text Available Objective To analyze the factors related to military training injury and the effect of self-rescue and buddy rescue on the result of the injury in the soldiers.Methods All data were statistically classified with cluster sampling according to the diagnosis standard of Chinese PLA for analysis.Investigation was conducted in 1028 soldiers of the armored forces with questionnaire,and non-condition logistic regression analysis was applied.Results The total incidence of military training injury was 40.2%.Of all the injured soldiers,36.80% of them served for one year only,and the incidence of injury was obviously higher than those who had served in armed forces for 2 or 3 years.Unconditioned regression analysis revealed that the main causes related to military training injury in the soldiers were as follows: the items of training,the terrain feature,motion sickness,self-rescue and buddy rescue training,and whether the action consistent with the standards.The rehabilitation rate within one month was significantly higher in those who underwent self-rescue or buddy rescue(93.8% and 94.2%,respectively than those who did not undergo self-rescue or buddy rescue(76.3%,76.7%,respectively,P < 0.001.Conclusions The incidence of military training injury in the armored forces is high.It should be emphysized that soldiers with one year of military service should be partioularly taken care to prevent from injuries.Many factors may influence the military training injury,and protective measures should be taken.Those who have the knowledge of self-rescue or undergo buddy rescue will have higher rehabilitation rate within one month.

  9. Genetic Analysis and Rescue of a Triple-reassortant H3N2 Influenza A Virus Isolated From Swine in Eastern China

    Institute of Scientific and Technical Information of China (English)

    Xian QI; Yong-jun JIAO; Hao PAN; Lun-biao CUI; Wei-xing FAN; Bao-xu HUANG; Zhi-yang SHI; Hua WANG

    2009-01-01

    One influenza H3N2 virus, A/swine/Shandong/3/2005 (Sw/SD/3/2005), was isolated from pigs with respiratory disease on a farm in eastern China. Genetic analysis revealed that Sw/SD/3/2005 was a triple-reassortant virus with a PB2 gene from human-like HIN1, NS from classical swine H1NI, and the remaining genes from human-like H3N2 virus. These findings further support the concept that swine can serve as reservoir or mixing vessels of influenza virus strains and maintain genetic and antigenic stability of viruses. Furthermore, we have successfully established a reverse genetics system based on eight plasmids and rescued Sw/SD/3/2005 through cell transfection. HI tests and RT-PCR confirmed that the rescued virus maintained the biological properties of the wild type Sw/SD/3/2005. The successful establishment of the reverse genetics system of Sw/SD/3/2005 will enable us to conduct extensive studies of the molecular evolution of H3N2 influenza viruses in swine.

  10. A Comparative Effectiveness Study of Rescue Strategies in 1,000 Subjects With Severe Hypoxemic Respiratory Failure.

    Science.gov (United States)

    Moreno Franco, Pablo; Enders, Felicity; Wilson, Gregory; Gajic, Ognjen; Pannu, Sonal R

    2016-02-01

    Subjects with severe hypoxemic respiratory failure have shown a high mortality in previous studies. All adult ICU patients requiring mechanical ventilation from 2005 to 2010 at Mayo Clinic were screened for severe hypoxemia (Murray lung injury score of ≥ 3). Extracorporeal membrane oxygenation, prone positioning, high-frequency oscillatory ventilation (HFOV), and inhaled vasodilators were considered as rescue strategies. A propensity-based scoring was created for the indication or predilection to use each strategy. A model was created to evaluate the association of each rescue strategy with hospital mortality. Among 1,032 subjects with severe hypoxemia, 239 subjects received some form of rescue strategy (59 received a combination of therapies, and 180 received individual therapies). Inhaled vasodilators were the most common, followed by HFOV. Rescue strategies were used in younger subjects with severe oxygenation deficits. Subjects receiving rescue strategies had higher mortality and longer ICU stays. None of the strategies individually or in combination showed a significant association with hospital mortality after adjusting covariates by propensity scoring. Adjusted Odds ratios and respective 95% CI were as follows: HFOV 0.67 (0.35-1.27), extracorporeal membrane oxygenation 0.63 (0.18-1.92), prone position 1.07 (0.49-2.28), and inhaled vasodilators 1.17 (0.78-1.77). In this retrospective comparative effectiveness study, there was no association of rescue strategies with hospital mortality in subjects with severe hypoxemia. Copyright © 2016 by Daedalus Enterprises.

  11. Proactive Scheduling Optimization of Emergency Rescue Based on Hybrid Tabu-genetic Optimization Algorithm%基于遗传-禁忌算法的应急救援前摄性调度优化

    Institute of Scientific and Technical Information of China (English)

    张全全; 谭文安

    2016-01-01

    Emergency rescue and relief is complicated and uncertain. Proactive scheduling is essential to provide decision support for emer-gency rescue. In this paper,first the problem is defined and signified,thus defining the rescue plan scheduling optimization model under the restriction of resources. According to the degree of emergency for rescue activities,the priority is assigned and the optimal objective function is defined. The problem is NP-hard. Then a genetic-tabu heuristic algorithm is designed in accordance with the features of mod-ern optimal algorithms. Finally,it is elaborated by analysis and simulation of accident rescue data. Experiment shows that the algorithm can effectively solve the optimal model. The research can be able to provide the decision support for emergency rescue of accident.%应急救援活动本身具有不确定性和复杂性的特点。为了对救援活动的顺利开展进行支持,文中以最小化救援损失为目标,研究应急救援前摄性调度优化问题。首先对问题进行界定,对问题进行符号化表示,并由此定义出资源约束下的救援计划调度优化模型。根据救援活动的紧急程度分配优先级,并定义出优化目标函数。该问题是强NP-hard的,由此根据现代优化算法的特点设计出遗传禁忌启发式算法。最后通过对某事故救援数据进行分析模拟对提出的算法进行说明。结果表明,该算法可以有效对优化模型进行求解。该研究可为突发事件的应急救援活动的开展提供决策支持。

  12. Effects of chemical protective equipment on team process performance in small unit rescue operations.

    Science.gov (United States)

    Grugle, Nancy L; Kleiner, Brian M

    2007-09-01

    In the event of a nuclear, biological, or chemical terrorist attack against civilians, both military and civilian emergency response teams must be able to respond and operate efficiently while wearing protective equipment. Chemical protective equipment protects the user by providing a barrier between the individual and hazardous environment. Unfortunately, the same equipment that is designed to support the user can potentially cause heat stress, reduced task efficiency, and reduced range-of-motion. Targeted Acceptable Responses to Generated Events of Tasks (TARGETS), an event-based team performance measurement methodology was used to investigate the effects of Mission Oriented Protective Posture (MOPP) on the behavioral processes underlying team performance during simulated rescue tasks. In addition, this study determined which team processes were related to team performance outcomes. Results of six primary analyses indicated that team process performance was not degraded by MOPP 4 on any rescue task and that the team processes critical for successful task performance are task-dependent. This article discusses the implications of these results with respect to the study design and the limitations of using an event-based team performance measurement methodology.

  13. Risk of large-scale evacuation based on the effectiveness of rescue strategies under different crowd densities.

    Science.gov (United States)

    Wang, Jinghong; Lo, Siuming; Wang, Qingsong; Sun, Jinhua; Mu, Honglin

    2013-08-01

    Crowd density is a key factor that influences the moving characteristics of a large group of people during a large-scale evacuation. In this article, the macro features of crowd flow and subsequent rescue strategies were considered, and a series of characteristic crowd densities that affect large-scale people movement, as well as the maximum bearing density when the crowd is extremely congested, were analyzed. On the basis of characteristic crowd densities, the queuing theory was applied to simulate crowd movement. Accordingly, the moving characteristics of the crowd and the effects of typical crowd density-which is viewed as the representation of the crowd's arrival intensity in front of the evacuation passageways-on rescue strategies was studied. Furthermore, a "risk axle of crowd density" is proposed to determine the efficiency of rescue strategies in a large-scale evacuation, i.e., whether the rescue strategies are able to effectively maintain or improve evacuation efficiency. Finally, through some rational hypotheses for the value of evacuation risk, a three-dimensional distribution of the evacuation risk is established to illustrate the risk axle of crowd density. This work aims to make some macro, but original, analysis on the risk of large-scale crowd evacuation from the perspective of the efficiency of rescue strategies. © 2012 Society for Risk Analysis.

  14. Development of a Search and Rescue Simulation to Study the Effects of Prolonged Isolation on Team Decision Making

    Science.gov (United States)

    Entin, Elliot E.; Kerrigan, Caroline; Serfaty, Daniel; Young, Philip

    1998-01-01

    The goals of this project were to identify and investigate aspects of team and individual decision-making and risk-taking behaviors hypothesized to be most affected by prolonged isolation. A key premise driving our research approach is that effects of stressors that impact individual and team cognitive processes in an isolated, confined, and hazardous environment will be projected onto the performance of a simulation task. To elicit and investigate these team behaviors we developed a search and rescue task concept as a scenario domain that would be relevant for isolated crews. We modified the Distributed Dynamic Decision-making (DDD) simulator, a platform that has been extensively used for empirical research in team processes and taskwork performance, to portray the features of a search and rescue scenario and present the task components incorporated into that scenario. The resulting software is called DD-Search and Rescue (Version 1.0). To support the use of the DDD-Search and Rescue simulator in isolated experiment settings, we wrote a player's manual for teaching team members to operate the simulator and play the scenario. We then developed a research design and experiment plan that would allow quantitative measures of individual and team decision making skills using the DDD-Search and Rescue simulator as the experiment platform. A description of these activities and the associated materials that were produced under this contract are contained in this report.

  15. Maritime Rescue

    Directory of Open Access Journals (Sweden)

    Constantin Anechitoae

    2012-05-01

    Full Text Available The maritime rescue, as any other legal institution related to maritime events - collision, crash, etc.- has its distinctive features. The maritime rescue may be considered as the operation that arises frommaritime collision, because, while collision stems from a breach of a negative duty necessary in maritimenavigation, i.e. of not harming the other, the maritime rescue is the implementation of positive obligationsrequired to vessel captains by the material requirements of the marine life that adds to the elements of thelegal concept which can be summed up as follows: to go to the aid of a vessel in danger, provided that thevessel does not expose itself, through this action, to a serious danger. The institution of maritime rescueencourages maritime commercial activities by the fact that, thus, there are governed such clear rights andobligations saving life at sea and shipping goods.

  16. Determining the effectiveness of safety measures for self-rescue in the Built Environment

    NARCIS (Netherlands)

    Trijssenaar, I.J.M.; Wijnant-Timmerman, S.I.; Witberg, R.; Veldhuis, G.

    2012-01-01

    Various types of emergency situations may occur in a city, region or country. In these –safety and security- emergency situations it is important for citizens to know how to handle. Preparation of citizens in the use of appropriate self-rescue measures can save many lives. Examples of self-rescue me

  17. Genetic conservation and management of the California endemic, Torrey pine (Pinus torreyana Parry): implications of genetic rescue in a genetically depauperate species

    Science.gov (United States)

    Jill A. Hamilton; Raphaël Royauté; Jessica W. Wright; Paul Hodgskiss; F. Thomas Ledig

    2017-01-01

    Rare species present a challenge under changing environmental conditions as the genetic consequences of rarity may limit species ability to adapt to environmental change. To evaluate the evolutionary potential of a rare species, we assessed variation in traits important to plant fitness using multigenerational common garden experiments. Torrey pine, ...

  18. Effects of Pharmacologic and Genetic Inhibition of Alk on Cognitive Impairments in NF1 Mutant Mice

    Science.gov (United States)

    2015-06-01

    in the general population. Specific learning disabilities in reading, spelling and math occur in 20% of children without overt central nervous...Distribution Unlimited 13. SUPPLEMENTARY NOTES 14. ABSTRACT We studied the expression of Alk and the effects of Alk mutations on learning and memory...even rescue learning impairments in mice. We describe the breeding data for the genetic study and the behavioral data so far for the genetic study

  19. Manganese rescues adverse effects on lifespan and development in Podospora anserina challenged by excess hydrogen peroxide.

    Science.gov (United States)

    Grimm, Carolin; Osiewacz, Heinz D

    2015-03-01

    For biological systems, balancing cellular levels of reactive oxygen species (ROS) is of great importance because ROS are both, essential for cellular signaling and dangerous in causing molecular damage. Cellular ROS abundance is controlled by a delicate network of molecular pathways. Within this network, superoxide dismutases (SODs) are active in disproportion of the superoxide anion leading to the formation of hydrogen peroxide. The fungal aging model Podospora anserina encodes at least three SODs. One of these is the mitochondrial PaSOD3 isoform containing manganese as a cofactor. Previous work resulted in the selection of strains in which PaSod3 is strongly overexpressed. These strains display impairments in growth and lifespan. A computational model suggests a series of events to occur in Sod3 overexpressing strains leading to adverse effects due to elevated hydrogen peroxide levels. In an attempt to validate this model and to obtain more detailed information about the cellular responses involved in ROS balancing, we further investigated the PaSod3 overexpressing strains. Here we show that hydrogen peroxide levels are indeed strongly increased in the mutant strain. Surprisingly, this phenotype can be rescued by the addition of manganese to the growth medium. Strikingly, while we obtained no evidence for an antioxidant effect of manganese, we found that the metal is required for induction of components of the ROS scavenging network and lowers the hydrogen peroxide level of the mutant. A similar effect of manganese on lifespan reversion was obtained in wild-type strains challenged with exogenous hydrogen peroxide. It appears that manganese is limited under high hydrogen peroxide and suggests that a manganese-dependent activity leads to the induction of ROS scavenging components.

  20. The effects of awareness displays on the coordination of search and rescue missions

    OpenAIRE

    Pappas, Alexandros

    2012-01-01

    When a natural or human-caused disaster, such as flood earthquake or explosion,strikes urban search and rescue (USAR) teams are deployed to the affected area in orderto locate; excavate; and treat survivors trapped in the ruins. The deployment of anUSAR team to an affected area is called a search and rescue (SAR) mission. Duringan SAR mission the team members have to work together in extremely hard and dangerousconditions; the goal of the mission being to save as many victims as fast aspossib...

  1. Revealing unexpected effects of rescue robots’ team-membership in a virtual environment

    NARCIS (Netherlands)

    Horsch, C.H.G.; Smets, N.J.J.M.; Neerincx, M.A.; Cuijpers, R.A.

    2013-01-01

    In urban search and rescue (USAR) situations resources are limited and workload is high. Robots that act as team players instead of tools could help in these situations. A Virtual Reality (VR) experiment was set up to test if team performance of a human-robot team increases when the robot act as suc

  2. Revealing unexpected effects of rescue robots’ team-membership in a virtual environment

    NARCIS (Netherlands)

    Horsch, C.H.G.; Smets, N.J.J.M.; Neerincx, M.A.; Cuijpers, R.H.

    2013-01-01

    In urban search and rescue (USAR) situations resources are limited and workload is high. Robots that act as team players instead of tools could help in these situations. A Virtual Reality (VR) experiment was set up to test if team performance of a human-robot team increases when the robot act as suc

  3. Genetic rescue of CB1 receptors on medium spiny neurons prevents loss of excitatory striatal synapses but not motor impairment in HD mice.

    Science.gov (United States)

    Naydenov, Alipi V; Sepers, Marja D; Swinney, Katie; Raymond, Lynn A; Palmiter, Richard D; Stella, Nephi

    2014-11-01

    Huntington's disease (HD) is caused by an expanded polyglutamine repeat in huntingtin protein that disrupts synaptic function in specific neuronal populations and results in characteristic motor, cognitive and affective deficits. Histopathological hallmarks observed in both HD patients and genetic mouse models include the reduced expression of synaptic proteins, reduced medium spiny neuron (MSN) dendritic spine density and decreased frequency of spontaneous excitatory post-synaptic currents (sEPSCs). Early down-regulation of cannabinoid CB1 receptor expression on MSN (CB1(MSN)) is thought to participate in HD pathogenesis. Here we present a cell-specific genetic rescue of CB1(MSN) in R6/2 mice and report that treatment prevents the reduction of excitatory synaptic markers in the striatum (synaptophysin, vGLUT1 and vGLUT2), of dendritic spine density on MSNs and of MSN sEPSCs, but does not prevent motor impairment. We conclude that loss of excitatory striatal synapses in HD mice is controlled by CB1(MSN) and can be uncoupled from the motor phenotype.

  4. Dose-dependent effects of D-methionine for rescuing noise-induced permanent threshold shift in guinea-pigs.

    Science.gov (United States)

    Lo, W-C; Liao, L-J; Wang, C-T; Young, Y-H; Chang, Y-L; Cheng, P-W

    2013-12-19

    The purpose of this study was to examine the dose-response effectiveness of d-methionine (d-met) in rescuing a noise-induced permanent threshold shift (PTS) and cochlear biochemistry following noise exposure. One hour after being exposed to continuous broadband white noise at 105dB sound pressure level (SPL) for 6h, guinea-pigs were treated five times at 12-h intervals with 200, 400, or 600mg/kg d-met or sterile 0.9% saline (each group, N=6) by intraperitoneal injection. Six guinea-pigs with normal hearing that were not exposed to noise served as control animals. Although administration of d-met 200mg/kg did not significantly reduce the mean PTS, treatment with d-met 600mg/kg achieved a complete rescue response. The level of rescue from noise-induced PTS following treatment with 200, 400, or 600mg/kg d-met was dose dependent. The attenuation of the noise-induced decreases in the activities of the Na(+), K(+)-ATPase and Ca(2+)-ATPase following treatment with 200, 400, or 600mg/kg d-met was also dose dependent. Likewise, d-met-dose-dependent decreases in mean lipid peroxidation and nitric oxide levels were observed in the d-met treated groups. Significant attenuation of increased oxidative stress and decreased ATPase activities was concurrent with the d-met-mediated improvements in noise-induced auditory dysfunction.

  5. Reliability of Search and Rescue Action

    Science.gov (United States)

    Burciu, Zbigniew

    2012-06-01

    Determination of the reliability of Search and Rescue action system allows the SAR Mission Coordinator to increase the effectiveness of the action through the proper selection of operational characteristics of the system elements, in particular the selection of the rescue units and auxiliary units. The paper presents the example of the influence of water temperature and time of the action on the reliability of search and rescue action in the case of rescuing a survivor in the water.

  6. A capability-based approach to analyzing the effectiveness and robustness of an offshore patrol vessel in the search and rescue mission

    OpenAIRE

    Ashpari, Mohammad

    2012-01-01

    Approved for public release; distribution is unlimited. In this thesis, a model of effectiveness for an offshore patrol vessel conducting search and rescue missions is developed and described. Beginning with a brief overview of work done by colleagues from the University of Genoa, Italy, as well as documents currently in use by the United States Navy and Coast Guard for search and rescue, this thesis provides a link between physical ship design factors and the operational effectiveness of ...

  7. Emergency Rescue Location Model with Uncertain Rescue Time

    Directory of Open Access Journals (Sweden)

    Jing Guan

    2014-01-01

    Full Text Available In order to model emergency rescue location problem with uncertain rescue time, an uncertain expected cost minimization model is proposed under uncertain environment. For solving this model, we convert the uncertain model to its equivalent deterministic form. Finally, a numerical example has been presented to illustrate the model. The computational results which were solved by the down mountain algorithm are provided to demonstrate the effectiveness of the model.

  8. Genetic and perinatal effects of abused substances

    Energy Technology Data Exchange (ETDEWEB)

    Brande, M.C.; Zimmerman, A.M.

    1987-01-01

    This book provides an overview of the effects of several abused drugs, including opiates, cannabinoids, alcohol, nicotine, and cocaine, with special emphasis on the actions of these substances at the molecular and cellular levels. The first half deals with genetic effects, including molecular genetics, biochemical genetics, pharmacogenetics, cytogenetics, and genetic toxicity. The second half focuses on perinatal effects and covers: drug abuse during pregnancy; biochemical aspects of marihuana on male reproduction; and long-term behavioral and neuroendocrine effects of perinatal alcohol exposure.

  9. The probability of evolutionary rescue: towards a quantitative comparison between theory and evolution experiments.

    Science.gov (United States)

    Martin, Guillaume; Aguilée, Robin; Ramsayer, Johan; Kaltz, Oliver; Ronce, Ophélie

    2013-01-19

    Evolutionary rescue occurs when a population genetically adapts to a new stressful environment that would otherwise cause its extinction. Forecasting the probability of persistence under stress, including emergence of drug resistance as a special case of interest, requires experimentally validated quantitative predictions. Here, we propose general analytical predictions, based on diffusion approximations, for the probability of evolutionary rescue. We assume a narrow genetic basis for adaptation to stress, as is often the case for drug resistance. First, we extend the rescue model of Orr & Unckless (Am. Nat. 2008 172, 160-169) to a broader demographic and genetic context, allowing the model to apply to empirical systems with variation among mutation effects on demography, overlapping generations and bottlenecks, all common features of microbial populations. Second, we confront our predictions of rescue probability with two datasets from experiments with Saccharomyces cerevisiae (yeast) and Pseudomonas fluorescens (bacterium). The tests show the qualitative agreement between the model and observed patterns, and illustrate how biologically relevant quantities, such as the per capita rate of rescue, can be estimated from fits of empirical data. Finally, we use the results of the model to suggest further, more quantitative, tests of evolutionary rescue theory.

  10. Collaboration mechanism of intercity emergency rescue ecosystem

    Institute of Scientific and Technical Information of China (English)

    Jiang Yiping; Zhao Lindu

    2009-01-01

    With the development of metropolitan regions and the appearance of urban agglomerations,cities have been more closely related.For the restricted emergency rescue resource in a single city,it has become more and more imminent for the demand of the intercity collaborative resistance to major accident,so as to improve the protection capacity of urban security.In order to find an effective intercity emergency rescue collaborative system,this paper introduces the concept and analysis method of ecosystem theory into intercity emergency rescue.Based on theanalysis of the formation-process of emergency rescue individual,population and community,a three-level intercity emergency rescue collaborative system is constructed according to the characteristics of dynamics and structure of intercity emergency rescue ecosystem,then the collaboration mechanism of information,resource and process in the intercity emergency rescue ecosystem is also studied in this paper,so as to offer available strategy and method for the ecosystem theory applied to intercity emergency rescue.Through the studies of intercity emergency rescue eco,system,it illuminates that the proposed emergency system can not only cope with the major accident more timely and effectively,but also integrate the intercity information resources and emergency rescue resource and process optimi,zation.

  11. Joint Rescue Drill

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    Ships gather for a joint rescue drill at the Waigaoqiao Dock in Shanghai on August 24.A large-scale rescue drill, combining maritime and air forces,was held as part of the ongoing World Maritime Rescue Conference 2011 in the city.During the drill,

  12. Mucuna pruriens (Velvet bean rescues motor, olfactory, mitochondrial and synaptic impairment in PINK1B9 Drosophila melanogaster genetic model of Parkinson's disease.

    Directory of Open Access Journals (Sweden)

    Simone Poddighe

    Full Text Available The fruit fly Drosophila melanogaster (Dm mutant for PTEN-induced putative kinase 1 (PINK1B9 gene is a powerful tool to investigate physiopathology of Parkinson's disease (PD. Using PINK1B9 mutant Dm we sought to explore the effects of Mucuna pruriens methanolic extract (Mpe, a L-Dopa-containing herbal remedy of PD. The effects of Mpe on PINK1B9 mutants, supplied with standard diet to larvae and adults, were assayed on 3-6 (I, 10-15 (II and 20-25 (III days old flies. Mpe 0.1% significantly extended lifespan of PINK1B9 and fully rescued olfactory response to 1-hexanol and improved climbing behavior of PINK1B9 of all ages; in contrast, L-Dopa (0.01%, percentage at which it is present in Mpe 0.1% ameliorated climbing of only PINK1B9 flies of age step II. Transmission electron microscopy analysis of antennal lobes and thoracic ganglia of PINK1B9 revealed that Mpe restored to wild type (WT levels both T-bars and damaged mitochondria. Western blot analysis of whole brain showed that Mpe, but not L-Dopa on its own, restored bruchpilot (BRP and tyrosine hydroxylase (TH expression to age-matched WT control levels. These results highlight multiple sites of action of Mpe, suggesting that its effects cannot only depend upon its L-Dopa content and support the clinical observation of Mpe as an effective medication with intrinsic ability of delaying the onset of chronic L-Dopa-induced long-term motor complications. Overall, this study strengthens the relevance of using PINK1B9 Dm as a translational model to study the properties of Mucuna pruriens for PD treatment.

  13. Gas Concentration Prediction Based on the Measured Data of a Coal Mine Rescue Robot

    Directory of Open Access Journals (Sweden)

    Xiliang Ma

    2016-01-01

    Full Text Available The coal mine environment is complex and dangerous after gas accident; then a timely and effective rescue and relief work is necessary. Hence prediction of gas concentration in front of coal mine rescue robot is an important significance to ensure that the coal mine rescue robot carries out the exploration and search and rescue mission. In this paper, a gray neural network is proposed to predict the gas concentration 10 meters in front of the coal mine rescue robot based on the gas concentration, temperature, and wind speed of the current position and 1 meter in front. Subsequently the quantum genetic algorithm optimization gray neural network parameters of the gas concentration prediction method are proposed to get more accurate prediction of the gas concentration in the roadway. Experimental results show that a gray neural network optimized by the quantum genetic algorithm is more accurate for predicting the gas concentration. The overall prediction error is 9.12%, and the largest forecasting error is 11.36%; compared with gray neural network, the gas concentration prediction error increases by 55.23%. This means that the proposed method can better allow the coal mine rescue robot to accurately predict the gas concentration in the coal mine roadway.

  14. The rule of rescue.

    Science.gov (United States)

    McKie, John; Richardson, Jeff

    2003-06-01

    Jonsen coined the term "Rule of Rescue"(RR) to describe the imperative people feel to rescue identifiable individuals facing avoidable death. In this paper we attempt to draw a more detailed picture of the RR, identifying its conflict with cost-effectiveness analysis, the preference it entails for identifiable over statistical lives, the shock-horror response it elicits, the preference it entails for lifesaving over non-lifesaving measures, its extension to non-life-threatening conditions, and whether it is motivated by duty or sympathy. We also consider the measurement problems it raises, and argue that quantifying the RR would probably require a two-stage procedure. In the first stage the size of the individual utility gain from a health intervention would be assessed using a technique such as the Standard Gamble or the Time Trade-Off, and in the second the social benefits arising from the RR would be quantified employing the Person Trade-Off. We also consider the normative status of the RR. We argue that it can be defended from a utilitarian point of view, on the ground that rescues increase well-being by reinforcing people's belief that they live in a community that places great value upon life. However, utilitarianism has long been criticised for failing to take sufficient account of fairness, and the case is no different here: fairness requires that we do not discriminate between individuals on morally irrelevant grounds, whereas being "identifiable" does not seem to be a morally relevant ground for discrimination.

  15. Lipid Rescue Therapy and High-Dose insulin Euglycemic Therapy are Effective for Severe Refractory Calcium Channel Blocker Overdose: Case Report and Review of Literature

    Directory of Open Access Journals (Sweden)

    Niko Bekjarovski

    2013-09-01

    How to cite this article: Bekjarovski NG. Lipid Rescue Therapy and High-Dose insulin Euglycemic Therapy are Effective for Severe Refractory Calcium Channel Blocker Overdose: Case Report and Review of Literature. Asia Pac J Med Toxicol 2013;2:114-6.

  16. Random and fixed effects in plant genetics.

    Science.gov (United States)

    Cockerham, C C

    1980-05-01

    A general model for any type of genetic entry is developed which takes into account both the factorial model of gene effects and the ancestral sources, whether inbred lines or outbred varieties, of the genes.Utilizing the model, various genetic designs of fixed entries are explored for the estimation of genetic effects and the testing of genetic hypotheses. These designs consisted of generation means - parents, crosses, various types of backcrosses, and so on - stemming from one or more pairs of parents, and of hybrid combinations from factorial mating designs. Limitations, from the standpoint of genetic effects that can be estimated and genetic hypotheses that can be tested, are developed in considerable detail.When entries from the factorial mating designs are considered to be random, attention is focused on the estimation of genetic variances, rather than effects, and on the concomitant changes in the tests of genetic hypotheses. While there is considerable improvement over fixed entries in the number of types of genetic variances that can be estimated, and of genetic hypotheses that can be tested, they are still very limited in contrast to what would be most desirable.

  17. A graft-based chemotherapy method for screening effective molecules and rescuing huanglongbing-affected citrus plants.

    Science.gov (United States)

    Zhang, Muqing; Powell, Charles A; Guo, Ying; Doud, Melissa S; Duan, Yongping

    2012-06-01

    Huanglongbing (HLB) is the most devastating disease of citrus. The global citrus industry is in urgent need of effective chemical treatments for HLB control because of its rapid spreading worldwide. Due to the fastidious nature of the pathogens, and the poor permissibility of citrus leaf surfaces, effective screening of chemicals for the HLB control can be challenging. In this study, we developed a graft-based chemotherapy method to rapidly screen potential HLB-controlling chemical compounds. In addition, we improved transmission efficiency by using the best HLB-affected scion-rootstock combination, and demonstrated the HLB bacterial titer was the critical factor in transmission. The HLB-affected lemon scions had a high titer of HLB bacterium, survival rate (83.3%), and pathogen transmission rate (59.9%). Trifoliate, a widely used commercial rootstock, had the highest survival rate (>70.0%) compared with grapefruit (52.6%) and sour orange (50.4%). Using this method, we confirmed a mixture of penicillin and streptomycin was the most effective compounds in eliminating the HLB bacterium from the HLB-affected scions, and in successfully rescuing severely HLB-affected citrus germplasms. These findings are useful not only for chemical treatments but also for graft-based transmission studies in HLB and other Liberibacter diseases.

  18. Genetic deletion of transglutaminase 2 does not rescue the phenotypic deficits observed in R6/2 and zQ175 mouse models of Huntington's disease.

    Directory of Open Access Journals (Sweden)

    Liliana B Menalled

    Full Text Available Huntington's disease (HD is an autosomal dominant, progressive neurodegenerative disorder caused by expansion of CAG repeats in the huntingtin gene. Tissue transglutaminase 2 (TG2, a multi-functional enzyme, was found to be increased both in HD patients and in mouse models of the disease. Furthermore, beneficial effects have been reported from the genetic ablation of TG2 in R6/2 and R6/1 mouse lines. To further evaluate the validity of this target for the treatment of HD, we examined the effects of TG2 deletion in two genetic mouse models of HD: R6/2 CAG 240 and zQ175 knock in (KI. Contrary to previous reports, under rigorous experimental conditions we found that TG2 ablation had no effect on either motor or cognitive deficits, or on the weight loss. In addition, under optimal husbandry conditions, TG2 ablation did not extend R6/2 lifespan. Moreover, TG2 deletion did not change the huntingtin aggregate load in cortex or striatum and did not decrease the brain atrophy observed in either mouse line. Finally, no amelioration of the dysregulation of striatal and cortical gene markers was detected. We conclude that TG2 is not a valid therapeutic target for the treatment of HD.

  19. Genetic selection of peptide aptamers that interact and inhibit both Small protein B and alternative ribosome-rescue factor A of Aeromonas veronii C4

    Directory of Open Access Journals (Sweden)

    Peng Liu

    2016-08-01

    Full Text Available Aeromonas veronii is a pathogenic gram-negative bacterium, which infects a variety of animals and results in mass mortality. The stalled-ribosome rescues are reported to ensure viability and virulence under stress conditions, of which primarily include trans-translation and alternative ribosome-rescue factor A (ArfA in A. veronii. For identification of specific peptides that interact and inhibit the stalled-ribosome rescues, peptide aptamer library (pTRG-SN-peptides was constructed using pTRG as vector and Staphylococcus aureus nuclease (SN as scaffold protein, in which 16 random amino acids were introduced to form an exposed surface loop. In the meantime both Small Protein B (SmpB which acts as one of the key components in trans-translation, and alternative ribosome-rescue factor A (ArfA were inserted to pBT to constitute pBT-SmpB and pBT-ArfA, respectively. The peptide aptamer PA-2 was selected from pTRG-SN-peptides by bacterial two-hybrid system (B2H employing pBT-SmpB or pBT-ArfA as baits. The conserved sites G133K134 and D138K139R140 of C-terminal SmpB were identified by interacting with N-terminal SN, and concurrently the residue K62 of ArfA was recognized by interacting with the surface loop of the specific peptide aptamer PA-2. The expression plasmids pN-SN or pN-PA-2, which combined the duplication origin of pRE112 with the neokanamycin promoter expressing SN or PA-2, were created and transformed into A. veronii C4, separately. The engineered A. veronii C4 which endowing SN or PA-2 expression impaired growth capabilities under stress conditions including temperatures, sucrose, glucose, potassium chloride (KCl and antibiotics, and the stress-related genes rpoS and nhaP were down-regulated significantly by Quantitative Real-time PCR (qRT-PCR when treating in 2.0% KCl. Thus,the engineered A. veronii C4 conferring PA-2 expression might be potentially attenuated vaccine, and also the peptide aptamer PA-2 could develop as anti

  20. [The compilation, contents and spread of Qing li Shan jiu Fang (Formulary for Effective Rescuing in the Qingli Reign].

    Science.gov (United States)

    Han, Yi

    2015-01-01

    Qing li shan jiu fang (Formulary for Effective Rescuing in the Qingli Reign), compiled by Hanlin Academy of Medical Official in 1048 under the decree of the Emperor, is a medical formulary exclusively used to prevent and control poisonous parasite disease. It is composed of formulae provided by a medical scholar of Fuzhou, Lin Shiyuan, together with other formulae collected by the imperial physicians and so on. Unfortunately, it was lost about after the demise of the Southern Song Dynasty. However, in the Southern Song Dynasty, two books, Liang Kejia's Chun xi san shan zhi and Hong Mai's Yi jian zhi bu, do record the progress of its compilation, parts of its contents and the condition of its spread and application. Moreover, they also describe the kinds, the feature, the epidemic, prevention and cure of parasite poison. It is especially good that this book preserves three famous formulae, including Zhi gu du zheng fang (Orthodox Formula for Treating Parasitic Poisons) (called A Cathartic Formula with 8 Ingredients in the Yuan Dynasty), Jie du wan (Antidote Pills) and He qi tang san (Powder of Decoction for Harmonious Qi), which are of medical significance for the understanding of the property of Qing li shan jiu fang. The Song emperors, the central government and local officials all paid high attention to the spread and application of this book. They not only enacted it to the counties, and provinces, but also carved it on stone steles for popularizing the knowledge of preventing parasitic poisons to medical workers and common people.

  1. Relieved residual damage in the hematopoietic system of mice rescued by radiation-induced adaptive response (Yonezawa Effect).

    Science.gov (United States)

    Wang, Bing; Tanaka, Kaoru; Ninomiya, Yasuharu; Maruyama, Kouichi; Varès, Guillaume; Eguchi-Kasai, Kiyomi; Nenoi, Mitsuru

    2013-01-01

    Existence of adaptive response (AR) was previously demonstrated in C57BL/6J mice. Irradiations were performed by delivering a priming low dose of X-rays (0.50 Gy) in combination with a challenge high dose of accelerated carbon or neon ion particles. AR was characterized by significantly decreased mortality in the 30-day survival test. This mouse AR model ('Yonezawa Effect') was originally established by using X-rays as both the priming and challenge irradiations. The underlying mechanism was due to radio-resistance occurring in blood-forming tissues. In this study, we verified the existence of AR and further investigated residual damage in the hematopoietic system in surviving animals. Results showed that the priming low dose of X-rays could relieve the detrimental effects on the hematopoietic system. We observed both an improvement in the blood platelet count and the ratio of polychromatic erythrocytes (PCEs) to the sum of PCEs and normochromatic erythrocytes (NCEs) and a marked reduction of the incidences of micronucleated PCEs and micronucleated NCEs. These findings suggest that the priming low dose of low linear energy transfer (LET) X-rays induced a protective effect on the hematopoietic system, which may play an important role in both rescue from acute lethal damage (mouse killing) and prevention of late detrimental consequences (residual anhematopoiesis and delayed genotoxic effects) caused by exposure to a high challenge dose from low-LET (X-ray) or high-LET (carbon and neon ion) irradiations. These findings provide new knowledge of the characterization of the Yonezawa Effect by providing new insight into the mechanistic study of AR in vivo.

  2. Aflatoxin B1 Induced Systemic Toxicity in Poultry and Rescue Effects of Selenium and Zinc.

    Science.gov (United States)

    Mughal, Muhammad Jameel; Peng, Xi; Kamboh, Asghar Ali; Zhou, Yi; Fang, Jing

    2017-08-01

    Among many challenges, exposure to aflatoxins, particularly aflatoxin B1 (AFB1), is one of the major concerns in poultry industry. AFB1 intoxication results in decreased meat/egg production, hepatotoxicity, nephrotoxicity, disturbance in gastrointestinal tract (GIT) and reproduction, immune suppression, and increased disease susceptibility. Selenium (Se) and zinc (Zn), in dietary supplementation, offer easy, cost-effective, and efficient ways to neutralize the toxic effect of AFB1. In the current review, we discussed the impact of AFB1 on poultry industry, its biotransformation, and organ-specific noxious effects, along with the action mechanism of AFB1-induced toxicity. Moreover, we explained the biological and detoxifying roles of Se and Zn in avian species as well as the protection mechanism of these two trace elements. Ultimately, we discussed the use of Se and Zn supplementation against AFB1-induced toxicity in poultry birds.

  3. Interleukin 35 Rescues Regulatory B Cell Function, but the Effect Is Dysregulated in Ulcerative Colitis.

    Science.gov (United States)

    Wang, Shaoxuan; Qin, Chengyong

    2017-05-01

    Ulcerative colitis (UC) is a long-time inflammatory condition arising from aberrant immune activation in the colon and the rectum. Interleukin (IL)-35 plays critical roles in autoimmune disorders. In this study, we explored the pathways of IL-35 in affecting UC. First, peripheral blood mononuclear cells (PBMCs) from UC patients were obtained. Pretreating PBMCs with IL-35 resulted in significantly elevated IL-10 production from whole PBMCs as well as B cells, whereas pretreating PBMCs with IL-12 or IL-27 did not demonstrate a similar effect. IL-35 suppressed the proliferation of CD4(+)CD25(-) conventional T cells, CD4(+)CD25(+) regulatory T (Treg) cells, and CD8(+) T cells, but did not inhibit the proliferation of B cells. IL-35-mediated IL-10 secretion in B cells did not require the presence of Treg cells. After treatment with IL-35, B cells from UC patients presented significantly enhanced regulatory function, characterized by inhibiting cell proliferation and interferon (IFN)-γ, IL-17, and tumor necrosis factor (TNF)-α secretion from autologous CD4(+)CD25(-) T cells and CD8(+) T cells, which was dependent on IL-10 signaling. However, IL-35-treatment did not demonstrate an effect on regulating IL-5 and IL-13 responses. These discoveries identified a Th1, Th17, and CD8(+) T cell-targeting role of IL-35 in UC patients. Next, we examined the IL-35 expression in the intestinal mucosal in UC patients. Data showed that both noninflamed and inflamed tissues from UC patients presented significantly lower IL-35 secretion compared to healthy control tissues, which was associated with suppressed p35 transcription. UC patients with higher IL-35 also presented higher IL-10 secretion in gut mucosa. Together, our study identified that IL-35 could mediate anti-inflammatory function through promoting regulatory B cell functions, but this effect was suppressed in UC patients.

  4. Genetic and ageing effects on beef quality

    OpenAIRE

    Li, Xin

    2013-01-01

    The overall aim of this thesis was to investigate genetic and ageing effects on beef quality. To study the genetic effects, association analyses were carried out between single nucleotide polymorphisms (SNPs) at DGAT1, LEP, SCD1, CAPN1 and CAST genes with colour, marbling, water holding capacity (WHC) and tenderness in meat from young bulls of the beef cattle population in Sweden. In total 243 young bulls from five beef breeds were included in the analysis. The results confirmed previous...

  5. Hi-tech Rescue

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Following the May 12 earthquake in Sichuan Province,rescue teams from across China have been racing against time to save as many people in the disaster area as possible.Among them is a squad clad in eye-catching orange uniforms whose members are better equipped than other rescuers and demonstrate higher levels of skill. It is the country’s best- trained earthquake emergency response team—the China National Earthquake Disaster Emergency Response and Rescue Team,also known as the China International Search and Rescue Team when it performs missions abroad.

  6. Effect of Advanced Location Methods on Search and Rescue Duration for General Aviation Aircraft Accidents in the Contiguous United States

    Science.gov (United States)

    Wallace, Ryan J.

    2013-01-01

    The purpose of this study was to determine the impact of advanced search and rescue devices and techniques on search duration for general aviation aircraft crashes. The study assessed three categories of emergency locator transmitters, including 121.5 MHz, 406 MHz, and GPS-Assisted 406 MHz devices. The impact of the COSPAS-SARSAT organization…

  7. Endoscopic multiple metal stenting for the treatment of enteral leaks near the biliary orifice: A novel effective rescue procedure

    Institute of Scientific and Technical Information of China (English)

    Massimiliano Mutignani; Lorenzo Dioscoridi; Stefanos Dokas; Paolo Aseni; Pietro Carnevali; Edoardo Forti; Raffaele Manta; Mariano Sica; Alberto Tringali; Francesco Pugliese

    2016-01-01

    Between April 2013 and October 2015, 6 patients developed periampul ary duodenal or jejunal/biliary leaks after major abdominal surgery. In all patients, percutaneous drainage of the collection or re-operation with primary surgical repair was attempted at first but failed. A fully covered enteral metal stent was placed in all patients to seal the leak. Subsequently, we cannulated the common bile duct and, in some cases, and the main pancreatic duct inserting hydrophilic guidewires through the stent after dilating the stent mesh with a dilatation balloon or breaking the meshes with Argon Plasma Beam. Finally, we inserted a fully covered biliary metal stent to drain the bile into the lumen of the enteral stent. In cases of normal proximal upper gastrointestinal anatomy, a pancreatic plastic stent was also inserted. Oral food intake was initiated when the abdominal drain outflow stopped completely. Stent removal was scheduled four to eight weeks later after a CT scan to confirm the complete healing of the fistula and the absence of any perilesional residual fluid collection. The leak resolved in five patients. One patient died two days after the procedure due to severe, pre-existing, sepsis. The stents were removed endoscopically in four weeks in four patients. In one patient we experiencedstent migration causing small bowel obstruction. In this case, the stents were removed surgically. Four patients are still alive today. They are still under follow-up and doing well. Bilio-enteral fully covered metal stenting with or without pancreatic stenting was feasible, safe and effective in treating postoperative enteral leaks near the biliopancreatic orifice in our small series. This minimally invasive procedure can be implemented in selected patients as a rescue procedure to repair these challenging leaks.

  8. Developing a new perspective to study the health of survivors of Sichuan earthquakes in China: a study on the effect of post-earthquake rescue policies on survivors' health-related quality of life.

    Science.gov (United States)

    Liang, Ying; Wang, Xiukun

    2013-10-29

    Sichuan is a province in China with an extensive history of earthquakes. Recent earthquakes, including the Lushan earthquake in 2013, have resulted in thousands of people losing their homes and their families. However, there is a research gap on the efficiency of government support policies. Therefore, this study develops a new perspective to study the health of earthquake survivors, based on the effect of post-earthquake rescue policies on health-related quality of life (HRQOL) of survivors of the Sichuan earthquake. This study uses data from a survey conducted in five hard-hit counties (Wenchuan, Qingchuan, Mianzhu, Lushan, and Dujiangyan) in Sichuan in 2013. A total of 2,000 questionnaires were distributed, and 1,672 were returned; the response rate was 83.6%. Results of the rescue policies scale and Medical Outcomes Study Short Form 36 (SF-36) scale passed the reliability test. The confirmatory factor analysis model showed that the physical component summary (PCS) directly affected the mental component summary (MCS). The results of structural equation model regarding the effects of rescue policies on HRQOL showed that the path coefficients of six policies (education, orphans, employment, poverty, legal, and social rescue policies) to the PCS of survivors were all positive and passed the test of significance. Finally, although only the path coefficient of the educational rescue policy to the MCS of survivors was positive and passed the test of significance, the other five policies affected the MCS indirectly through the PCS. The general HRQOL of survivors is not ideal; the survivors showed a low satisfaction with the post-earthquake rescue policies. Further, the six post-earthquake rescue policies significantly improved the HRQOL of survivors and directly affected the promotion of the PCS of survivors. Aside from the educational rescue policy, all other policies affected the MCS indirectly through the PCS. This finding indicates relatively large differences in

  9. Effects of modularization of maritime emergency medical rescue force%海上应急救援力量的模块化应用研究

    Institute of Scientific and Technical Information of China (English)

    李泽; 吴宣树; 廖艺文

    2016-01-01

    Objective To explore the setting and application of modules of the marine emergency medical rescue force. Methods According to the modularization principle, the modules of marine emergency medical rescue force were set. Results With the use of modules, the deployment efficiency of marine emergency medical rescue team increased by 100%, and the number of persons reduced by 20%, the time of training by 50%, and medical supplies reserve by over 40%. Conclusions The modular design promotes responsive, flexible and effective marine medical emergency rescue. The next step is to realize a standardized, universal, systematic, practical, and integral system.%目的:探讨海上应急医学救援模块化组合设置与应用等相关问题。方法按照模块化原理,对海上应急医学救援力量进行模块化设置。结果模块化设置后海上应急救援队出动效率加快一倍、编组人员减少20%、组训时间节约50%、药材储备减少40%以上。结论模块化设计为海上应急医学救援实现反应迅速、机动灵活、保障有力进行了有益探索,下一步需在标准化、全能化、系统化、实战化、一体化方面继续完善。

  10. Genetic effect on apgar score

    Directory of Open Access Journals (Sweden)

    Carla Franchi-Pinto

    1999-03-01

    Full Text Available Intraclass correlation coefficients for one- and five-min Apgar scores of 604 twin pairs born at a southeastern Brazilian hospital were calculated, after adjusting these scores for gestational age and sex. The data support a genetic hypothesis only for 1-min Apgar score, probably because it is less affected by the environment than 4 min later, after the newborns have been under the care of a neonatology team. First-born twins exhibited, on average, better clinical conditions than second-born twins. The former showed a significantly lower proportion of Apgar scores under seven than second-born twins, both at 1 min (17.5% vs. 29.8% and at 5 min (7.2% vs. 11.9%. The proportion of children born with "good" Apgar scores was significantly smaller among twins than among 1,522 singletons born at the same hospital. Among the latter, 1- and 5-min Apgar scores under seven were exhibited by 9.2% and 3.4% newborns, respectively.Os coeficientes de correlação intraclasse foram calculados para os índices de Apgar 1 e 5 minutos após o nascimento de 604 pares de gêmeos em uma maternidade do sudeste brasileiro, depois que esses índices foram ajustados para idade gestacional e sexo. Os dados obtidos apoiaram a hipótese genética apenas em relação ao primeiro índice de Apgar, provavelmente porque ele é menos influenciado pelo ambiente do que 4 minutos depois, quando os recém-nascidos já estiveram sob os cuidados de uma equipe de neonatologistas. Os gêmeos nascidos em primeiro lugar apresentaram, em média, melhor estado clínico que os nascidos em segundo lugar, visto que os primeiros mostraram uma proporção de índices de Apgar inferiores a 7 significativamente menor do que os nascidos em segundo lugar, tanto um minuto (17,5% contra 29,8% quanto cinco minutos após o nascimento (7,2% contra 11,9%. A proporção de recém-nascidos com índices de Apgar que indicam bom prognóstico foi significativamente menor nos gêmeos do que em 1.522 conceptos

  11. Rough weather rescue

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    2002-07-01

    This report, which was commissioned by the Offshore Division of the Health and Safety Executive, reviews the type of equipment and techniques used to rescue people from the water around offshore platforms in rough weather. It also examines the limitations of the equipment in extreme conditions and reports the views of the various industry sectors (as determined by a questionnaire survey). The type of incidents covered by the report include: man overboard; helicopter ditching; and evacuation from totally enclosed motor propelled survival craft (TEMPSC) and life rafts. The report considers: the approach taken by other oil-producing countries; current escape, evacuation and rescue (EER) practices for the UK Continental Shelf (UKCS); environmental limits; methods for rescue and recovery from the water and TEMPSC; launch and recovery systems; fast rescue craft (FSC) and daughter craft; emergency response and rescue vessels; helicopters; casualty personal protection equipment; claimed versus actual equipment performance; training and practice procedures; attitudes to environmental limits; lessons learnt from incidents; mechanical recovery devices; equipment design and use in rough weather; and recommendations for improvements.

  12. Genetic deletion of regulator of G-protein signaling 4 (RGS4) rescues a subset of fragile X related phenotypes in the FMR1 knockout mouse.

    Science.gov (United States)

    Pacey, Laura K K; Doss, Lilian; Cifelli, Carlo; van der Kooy, Derek; Heximer, Scott P; Hampson, David R

    2011-03-01

    Fragile X syndrome (FXS), the most common cause of inherited mental retardation, is caused by the loss of the mRNA binding protein, FMRP. Persons with FXS also display epileptic seizures, social anxiety, hyperactivity, and autistic behaviors. The metabotropic glutamate receptor theory of FXS postulates that in the absence of FMRP, enhanced signaling though G-protein coupled group I metabotropic glutamate receptors in the brain contributes to many of the abnormalities observed in the disorder. However, recent evidence suggests that alterations in cellular signaling through additional G-protein coupled receptors may also be involved in the pathogenesis of FXS, thus providing impetus for examining downstream molecules. One group of signaling molecules situated downstream of the receptors is the regulator of G-protein signaling (RGS) proteins. Notably, RGS4 is highly expressed in brain and has been shown to negatively regulate signaling through Group I mGluRs and GABA(B) receptors. To examine the potential role for RGS4 in the pathogenesis of FXS, we generated FXS/RGS4 double knockout mice. Characterization of these mice revealed that a subset of FXS related phenotypes, including increased body weight, altered synaptic protein expression, and abnormal social behaviors, were rescued in the double knockout mice. Other phenotypes, such as hyperactivity and macroorchidism, were not affected by the loss of RGS4. These findings suggest that tissue and cell-type specific differences in GPCR signaling and RGS function may contribute to the spectrum of phenotypic differences observed in FXS.

  13. International symposium on mine rescue

    Energy Technology Data Exchange (ETDEWEB)

    1988-01-01

    To celebrate the 80th anniversary of creation of organized mine rescue activities in Poland, a symposium organized by the Central Mine Rescue Station in Bytom and the Association of Mining Engineers and Technicians in Katowice took place on 28-30 September 1987 in Szczyrk and was attended by 53 representatives of mine rescue services from 15 countries. Nineteen papers by Polish participants and 21 papers by foreign participants were presented on three main topics: modern methods of fighting mining hazards; lines of improvement for mine rescue services; modern mine rescue equipment. Polish-made equipment for mine rescue, hazard detection and combating hazards was exhibited. The Central Mine Rescue Station in Bytom presented a tender for such services as technical consulting, expertise, development of technology and direct participation in rescue operations. Participants to the symposium addressed the Organizing Committee of the World Mining Congress to include mine rescue issues in the program of the next Congress.

  14. Optimal hostage rescue problem where an action can only be taken once : case where its effectiveness lasts up to the deadline

    OpenAIRE

    Shi, Fengbo

    2001-01-01

    We propose the following mathematical model for optimal reacue problems concerning hostages.Suppose that a person is taken as a hostage and that a decision has to be made from among three alternatives:storm for rescue,or wait up to the next point in time for an opportunity to preasent itself,or take one action of negotiation which might save the situation.It is assumed that the action of negotiation can only be taken once and it will be effective up to the deadline.The objective is to find an...

  15. The Protective Effect of Minocycline in a Paraquat-Induced Parkinson's Disease Model in Drosophila is Modified in Altered Genetic Backgrounds

    Directory of Open Access Journals (Sweden)

    Arati A. Inamdar

    2012-01-01

    Full Text Available Epidemiological studies link the herbicide paraquat to increased incidence of Parkinson's disease (PD. We previously reported that Drosophila exposed to paraquat recapitulate PD symptoms, including region-specific degeneration of dopaminergic neurons. Minocycline, a tetracycline derivative, exerts ameliorative effects in neurodegenerative disease models, including Drosophila. We investigated whether our environmental toxin-based PD model could contribute to an understanding of cellular and genetic mechanisms of minocycline action and whether we could assess potential interference with these drug effects in altered genetic backgrounds. Cofeeding of minocycline with paraquat prolonged survival, rescued mobility defects, blocked generation of reactive oxygen species, and extended dopaminergic neuron survival, as has been reported previously for a genetic model of PD in Drosophila. We then extended this study to identify potential interactions of minocycline with genes regulating dopamine homeostasis that might modify protection against paraquat and found that deficits in GTP cyclohydrolase adversely affect minocycline rescue. We further performed genetic studies to identify signaling pathways that are necessary for minocycline protection against paraquat toxicity and found that mutations in the Drosophila genes that encode c-Jun N-terminal kinase (JNK and Akt/Protein kinase B block minocycline rescue.

  16. The joint effects of kin, multilevel selection and indirect genetic effects on response to genetic selection

    NARCIS (Netherlands)

    Bijma, P.; Wade, M.J.

    2008-01-01

    Kin and levels-of-selection models are common approaches for modelling social evolution. Indirect genetic effect (IGE) models represent a different approach, specifying social effects on trait values rather than fitness. We investigate the joint effect of relatedness, multilevel selection and IGEs o

  17. Protocols for In Vitro Propagation, Conservation, Synthetic Seed Production, Embryo Rescue, Microrhizome Production, Molecular Profiling, and Genetic Transformation in Ginger (Zingiber officinale Roscoe.).

    Science.gov (United States)

    Nirmal Babu, K; Samsudeen, K; Divakaran, Minoo; Pillai, Geetha S; Sumathi, V; Praveen, K; Ravindran, P N; Peter, K V

    2016-01-01

    Ginger is a rhizomatous plant that belongs to the family Zingiberaceae. It is a herbaceous perennial but cultivated as annual, with crop duration of 7-10 months. Ginger is native to India and Tropical South Asia. The tuberous rhizomes or underground stems of ginger are used as condiment, an aromatic stimulant, and food preservative as well as in traditional medicine. Ginger is propagated vegetatively with rhizome bits as seed material. Cultivation of ginger is plagued by rhizome rot diseases, most of which are mainly spread through infected seed rhizomes. Micropropagation will help in production of disease-free planting material. Sexual reproduction is absent in ginger, making recombinant breeding very impossible. In vitro technology can thus become the preferred choice as it can be utilized for multiplication, conservation of genetic resources, generating variability, gene transfer, molecular tagging, and their utility in crop improvement of these crops.

  18. Effects of macromolecular crowding on genetic networks.

    Science.gov (United States)

    Morelli, Marco J; Allen, Rosalind J; Wolde, Pieter Rein ten

    2011-12-21

    The intracellular environment is crowded with proteins, DNA, and other macromolecules. Under physiological conditions, macromolecular crowding can alter both molecular diffusion and the equilibria of bimolecular reactions and therefore is likely to have a significant effect on the function of biochemical networks. We propose a simple way to model the effects of macromolecular crowding on biochemical networks via an appropriate scaling of bimolecular association and dissociation rates. We use this approach, in combination with kinetic Monte Carlo simulations, to analyze the effects of crowding on a constitutively expressed gene, a repressed gene, and a model for the bacteriophage λ genetic switch, in the presence and absence of nonspecific binding of transcription factors to genomic DNA. Our results show that the effects of crowding are mainly caused by the shift of association-dissociation equilibria rather than the slowing down of protein diffusion, and that macromolecular crowding can have relevant and counterintuitive effects on biochemical network performance.

  19. Stereoselective Blockage of Quinidine and Quinine in the hERG Channel and the Effect of Their Rescue Potency on Drug-Induced hERG Trafficking Defect

    Directory of Open Access Journals (Sweden)

    Meng Yan

    2016-09-01

    Full Text Available Diastereoisomers of quinidine and quinine are used to treat arrhythmia and malaria, respectively. It has been reported that both drugs block the hERG (human ether-a-go-go-related gene potassium channel which is essential for myocardium repolarization. Abnormality of repolarization increases risk of arrhythmia. The aim of our research is to study and compare the impacts of quinidine and quinine on hERG. Results show that both drugs block the hERG channel, with quinine 14-fold less potent than quinidine. In addition, they presented distinct impacts on channel dynamics. The results imply their stereospecific block effect on the hERG channel. However, F656C-hERG reversed this stereoselectivity. The mutation decreases affinity of the two drugs with hERG, and quinine was more potent than quinidine in F656C-hERG blockage. These data suggest that F656 residue contributes to the stereoselective pocket for quinidine and quinine. Further study demonstrates that both drugs do not change hERG protein levels. In rescue experiments, we found that they exert no reverse effect on pentamidine- or desipramine-induced hERG trafficking defect, although quinidine has been reported to rescue trafficking-deficient pore mutation hERG G601S based on the interaction with F656. Our research demonstrated stereoselective effects of quinidine and quinine on the hERG channel, and this is the first study to explore their reversal potency on drug-induced hERG deficiency.

  20. Indirect genetic effects and kin recognition

    DEFF Research Database (Denmark)

    Alemu, Setegn Worku; Berg, Peer; Janss, Luc

    2014-01-01

    , and develop models to estimate such parameters. First, we extend the definition of total breeding value and total heritable variance to cases where IGEs depend on relatedness. Next, we show that the full set of genetic parameters is not identifiable when IGEs differ between kin and strangers. Subsequently, we...... present a reduced model that yields estimates of the total heritable effects on kin, on non-kin and on all social partners of an individual, as well as the total heritable variance for response to selection. Finally we discuss the consequences of analysing data in which IGEs depend on relatedness using...

  1. Rescue vehicle Stirling engine

    Energy Technology Data Exchange (ETDEWEB)

    David Hainsworth; Pete Nicolay [CSIRO Exploration & Mining (Australia)

    2001-03-15

    The aim of this project was to develop a proof-of-concept Stirling engine and heat cell for use in the mining industry, primarily for underground applications. In particular, the Stirling engine, being an external combustion engine, offers the potential to operate on stored heat in low-oxygen or inert underground atmospheres. This makes it attractive for rescue vehicles, which are required to operate in such environments. A prototype Stirling engine with power output in the 15kW range was constructed and tested. Experimental measurements showed that this output was not achieved. While the basic thermodynamic principles of the design were valid, achieved output was well below the required value. The conclusion is that, because of the lack of commercial Stirling cycle-based products and the difficulty experienced in this project in overcoming the problem of high temperature seal implementation to produce a working prototype, the short term potential of the Stirling engine for mine rescue applications is limited.

  2. Sample design effects in landscape genetics

    Science.gov (United States)

    Oyler-McCance, Sara J.; Fedy, Bradley C.; Landguth, Erin L.

    2012-01-01

    An important research gap in landscape genetics is the impact of different field sampling designs on the ability to detect the effects of landscape pattern on gene flow. We evaluated how five different sampling regimes (random, linear, systematic, cluster, and single study site) affected the probability of correctly identifying the generating landscape process of population structure. Sampling regimes were chosen to represent a suite of designs common in field studies. We used genetic data generated from a spatially-explicit, individual-based program and simulated gene flow in a continuous population across a landscape with gradual spatial changes in resistance to movement. Additionally, we evaluated the sampling regimes using realistic and obtainable number of loci (10 and 20), number of alleles per locus (5 and 10), number of individuals sampled (10-300), and generational time after the landscape was introduced (20 and 400). For a simulated continuously distributed species, we found that random, linear, and systematic sampling regimes performed well with high sample sizes (>200), levels of polymorphism (10 alleles per locus), and number of molecular markers (20). The cluster and single study site sampling regimes were not able to correctly identify the generating process under any conditions and thus, are not advisable strategies for scenarios similar to our simulations. Our research emphasizes the importance of sampling data at ecologically appropriate spatial and temporal scales and suggests careful consideration for sampling near landscape components that are likely to most influence the genetic structure of the species. In addition, simulating sampling designs a priori could help guide filed data collection efforts.

  3. Sex, Deportation and Rescue

    DEFF Research Database (Denmark)

    Plambech, Sine

    2017-01-01

    This contribution explores the economies interlinked by the migration of Nigerian women sex workers. The literature and politics of sex work migration and human trafficking economies are commonly relegated to the realm that focuses on profits for criminal networks and pimps, in particular...... recirculating the claim that human trafficking is the “third largest” criminal economy after drugs and weapons. Based on ethnographic fieldwork among Nigerian sex worker migrants conducted in Benin City, Nigeria, in 2011 and 2012, this study brings together four otherwise isolated migration economies...... – facilitation, remittances, deportation, and rescue – and suggests that we have to examine multiple sites and relink these in order to more fully understand the complexity of sex work migration. Drawing upon literature within transnational feminist analysis, critical human trafficking studies, and migration...

  4. Indirect Genetic Effects for group-housed animals

    DEFF Research Database (Denmark)

    Alemu, Setegn Worku

    This thesis investigated social interactions in group-housed animals. The main findings of this thesis: 1) Statistical methods to estimate indirect genetic effects when interactions differ between kin vs. non-kin were developed. 2) Indirect genetic effects contribute a substantial amount of herit......This thesis investigated social interactions in group-housed animals. The main findings of this thesis: 1) Statistical methods to estimate indirect genetic effects when interactions differ between kin vs. non-kin were developed. 2) Indirect genetic effects contribute a substantial amount...

  5. Functional-mixed effects models for candidate genetic mapping in imaging genetic studies.

    Science.gov (United States)

    Lin, Ja-An; Zhu, Hongtu; Mihye, Ahn; Sun, Wei; Ibrahim, Joseph G

    2014-12-01

    The aim of this paper is to develop a functional-mixed effects modeling (FMEM) framework for the joint analysis of high-dimensional imaging data in a large number of locations (called voxels) of a three-dimensional volume with a set of genetic markers and clinical covariates. Our FMEM is extremely useful for efficiently carrying out the candidate gene approaches in imaging genetic studies. FMEM consists of two novel components including a mixed effects model for modeling nonlinear genetic effects on imaging phenotypes by introducing the genetic random effects at each voxel and a jumping surface model for modeling the variance components of the genetic random effects and fixed effects as piecewise smooth functions of the voxels. Moreover, FMEM naturally accommodates the correlation structure of the genetic markers at each voxel, while the jumping surface model explicitly incorporates the intrinsically spatial smoothness of the imaging data. We propose a novel two-stage adaptive smoothing procedure to spatially estimate the piecewise smooth functions, particularly the irregular functional genetic variance components, while preserving their edges among different piecewise-smooth regions. We develop weighted likelihood ratio tests and derive their exact approximations to test the effect of the genetic markers across voxels. Simulation studies show that FMEM significantly outperforms voxel-wise approaches in terms of higher sensitivity and specificity to identify regions of interest for carrying out candidate genetic mapping in imaging genetic studies. Finally, FMEM is used to identify brain regions affected by three candidate genes including CR1, CD2AP, and PICALM, thereby hoping to shed light on the pathological interactions between these candidate genes and brain structure and function.

  6. 急性心源性肺水肿应用呼吸机的抢救效果%Rescue effect of ventilator on acute cardiogenic pulmonary edema

    Institute of Scientific and Technical Information of China (English)

    马爱华

    2016-01-01

    Objective To investigate the effect of ventilator on acute cardiogenic pulmonary edema.Methods From December 2012 to June 2014, 64 patients with cardiogenic pulmonary edema were selected, ventilator was used in its rescue, combined with psychological nursing, postural care and respiratory management, observed the illness closely, prevented to dealing with complications.Results Breathing machine for 2 to 5 days, the condition of 60 patients were improved, 2 cases were replaced by the use of the face mask for tracheal intubation, while 2 cases of elderly patients with pulmonary infection due to poor drainage.Conclusions The rescue process in mind when hypoxemia in patients with pulmonary edema, early ventilator significantly improved therapeutic effect, but a series of patient care is to ensure the key to ventilator therapy.%目的 探讨急性心源性肺水肿应用呼吸机的抢救效果.方法 选取2012年12月至2014年6月心源性肺水肿患者64例,在其抢救过程中使用呼吸机,配合心理护理、体位护理以及呼吸道管理等,密切观察病情,预防和处理并发症.结果 呼吸机治疗2~5d,病情好转60例.2例因不配合使用面罩改为气管插管,2例高龄患者因排痰较差肺部感染改为气管插管辅助通气.结论 在心源性肺水肿患者抢救过程中出现低氧血症时,尽早使用呼吸机可提高治疗效果,而对患者的一系列护理则是保证呼吸机治疗的关键.

  7. Application effect of improved emergency rescue measures in elderly patients with hypertensive crisis%改进急诊抢救措施在老年高血压危象患者中的应用效果

    Institute of Scientific and Technical Information of China (English)

    马德有

    2016-01-01

    Objective To discuss clinical value of improved emergency rescue measures in elderly patients with hypertensive crisis.Methods 86 elderly patients with hypertensive crisis in our hospital from December 2013 to January 2015 were selected and divided into two groups.43 patients in control group underwent emergency department conventional standard rescue,while 43 patients in observation group underwent active improved emergency rescue measures.Observed the overall rescue effect,and compared systolic blood pressure (SBP),diastolic blood pressure (DBP) and heart rate (HR) before and after rescue of two groups.Results ① The overall rescue effective rate in observation group was 93.0%,significantly higher than 72.1% in control group,with statistically significant difference (P<0.05).② There were no statistically significant differences in SBP,DBP,and HR between two groups before rescue.After rescue,in addition to HR,SBP and DBP of observation group were significantly lower than those of control group,with statistically significant differences (P<0.05).Conclusions Improved emergency rescue measures in elderly patients with hypertensive crisis lays emphasis up on fast and smooth decompression,and anti-convulsant,oxygen-uptake,symptomatic and supportive measures,to significantly improve the rescue effect and promote the recovery of patients.%目的 研讨老年高血压危象患者采用改进急诊抢救方案治疗的临床价值.方法 自本院2013年12月至2015年1月收集的老年高血压危象病例中选取86例并随机分组,对照组43例按常规急诊科标准抢救,观察组43例制定改进急诊抢救方案积极治疗,观察两组的总体抢救效果,并对两组抢救前后的收缩压(SBP)、舒张压(DBP)和心率(HR)变化情况进行比较.结果 ①观察组的总抢救率为93.0%,相比对照组的72.1%明显提高,两组比较差异有统计学意义(P<0.05).②抢救前,两组的SBP值、DBP值和HR值相比基本相当,两组

  8. Avalanche Survival After Rescue With the RECCO Rescue System: A Case Report.

    Science.gov (United States)

    Grasegger, Katharina; Strapazzon, Giacomo; Procter, Emily; Brugger, Hermann; Soteras, Inigo

    2016-06-01

    We report a case of survival of a completely buried avalanche victim after being located with the radar-based RECCO Rescue System. In the winter of 2015, 2 off-piste skiers were completely buried in an avalanche near the secured ski area in Baqueira Beret, Spain. The first victim was located with the RECCO Rescue System in less than 35 minutes and was alive and conscious at extrication. This system emits radio waves and requires a specific reflector. It is a portable device that is used by more than 600 rescue organizations worldwide, especially in secured ski areas. The device should be brought to the avalanche site together with electronic avalanche transceivers, a probing team, and avalanche dogs. In the hands of experienced professionals, the device may allow rapid location of victims not carrying an electronic avalanche transceiver. Although it is not the first successful extrication of a victim with the RECCO Rescue System, it is the first case published in the medical literature and is intended to encourage data collection and to increase our understanding of the effectiveness of this device in avalanche rescue.

  9. An optimal hostage rescue problem

    OpenAIRE

    Shi, Fengbo

    2000-01-01

    We propose the following mathematical model of optinal reacue problems concerning hostage.Suppose i persons are taken as hostages at any given point in time t,and we have to make a decision on attempting either rescue or no resuce. Let p be the probability of a hostage being killed in a rescue attempt,and let s be the probability of criminal(s) surrendering up to the following point in time if no rescue attempt is made.Futher,let g and r be the probabilities of a hostage being,respectively,ki...

  10. Model and algorithm for optimization of rescue center location of emergent catastrophe

    Institute of Scientific and Technical Information of China (English)

    WANG Ding-wei; ZHANG Guo-xiang

    2006-01-01

    The location of rescue centers is a key problem in optimal resource allocation and logistics in emergency response.We propose a mathematical model for rescue center location with the considerations of emergency occurrence probability,catastrophe diffusion function and rescue function.Because the catastrophe diffusion and rescue functions are both nonlinear and time-variable,it cannot be solved by common mathematical programming methods.We develop a heuristic embedded genetic algorithm for the special model solution.The computation based on a large number of examples with practical data has shown us satisfactory results.

  11. Effective treatment of cervical incompetence in a monochorionic monoamniotic twin pregnancy with a rescue cervical cerclage and pessary--a case report and review of literature.

    Science.gov (United States)

    Kosińska-Kaczyńska, Katarzyna; Szymusik, Iwona; Bomba-Opoń, Dorota; Brawura-Biskupski-Samaha, Robert; Wegrzyn, Piotr; Wielgoś, Mirosław

    2012-12-01

    A monochorionic monoamniotic (MCMA) twin pregnancy is the rarest form of twin gestation, accounting for around 1:10000 to 1:20000 of all deliveries regardless of the region of the world. All multiple gestations have a higher risk of preterm delivery due to either preterm uterine contractions or asymptomatic cervical shortening (cervical incompetence). A case of a 28-year-old primigravida in MCMA twin pregnancy with cervical incompetence diagnosed at 22 weeks of gestation is presented. After obtaining cervical swabs, negative laboratory infection parameters and confirming concordant gestational age on ultrasound scan with no structural abnormalities of both fetuses, the patient was qualified for an emergency cervical cerclage according to Wurm-Hefner method. Five days after the procedure, a cervical pessary was additionally inserted. She was administered antibiotics and steroids. The wellbeing of both fetuses was strictly monitored by means of cardiotocography tracing and ultrasound examinations, on which they were both eutrophic, with no abnormalities in Doppler blood flow patterns. Spontaneous premature rupture of membranes took place at 32 weeks of gestation, a cesarean section was performed and two female fetuses of 1740 g and 1760 g were delivered. They both required antibiotics because of congenital pneumonia, but no respiratory support was necessary The twins were discharged from the hospital 22 days after birth in good general condition. This case of a rescue cervical cerclage and pessary used simultaneously can be an example of an effective method of cervical incompetence treatment in twin pregnancies.

  12. Genetic diversity in introduced populations with an Allee effect.

    Science.gov (United States)

    Wittmann, Meike J; Gabriel, Wilfried; Metzler, Dirk

    2014-09-01

    A phenomenon that strongly influences the demography of small introduced populations and thereby potentially their genetic diversity is the demographic Allee effect, a reduction in population growth rates at small population sizes. We take a stochastic modeling approach to investigate levels of genetic diversity in populations that successfully overcame either a strong Allee effect, in which populations smaller than a certain critical size are expected to decline, or a weak Allee effect, in which the population growth rate is reduced at small sizes but not negative. Our results indicate that compared to successful populations without an Allee effect, successful populations with a strong Allee effect tend to (1) derive from larger founder population sizes and thus have a higher initial amount of genetic variation, (2) spend fewer generations at small population sizes where genetic drift is particularly strong, and (3) spend more time around the critical population size and thus experience more genetic drift there. In the case of multiple introduction events, there is an additional increase in diversity because Allee-effect populations tend to derive from a larger number of introduction events than other populations. Altogether, a strong Allee effect can either increase or decrease genetic diversity, depending on the average founder population size. By contrast, a weak Allee effect tends to decrease genetic diversity across the entire range of founder population sizes. Finally, we show that it is possible in principle to infer critical population sizes from genetic data, although this would require information from many independently introduced populations.

  13. Genetic and Environmental Effects on Vocal Symptoms and Their Intercorrelations

    Science.gov (United States)

    Nybacka, Ida; Simberg, Susanna; Santtila, Pekka; Sala, Eeva; Sandnabba, N. Kenneth

    2012-01-01

    Purpose: Recently, Simberg et al. (2009) found genetic effects on a composite variable consisting of 6 vocal symptom items measuring dysphonia. The purpose of the present study was to determine genetic and environmental effects on the individual vocal symptoms in a population-based sample of Finnish twins. Method: The sample comprised 1,728 twins…

  14. Genetic and environmental effects on mortality before age 70 years

    DEFF Research Database (Denmark)

    Petersen, Liselotte; 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...... and environmental effects on rate of dying....

  15. Donepezil rescues spatial learning and memory deficits following traumatic brain injury independent of its effects on neurogenesis.

    Science.gov (United States)

    Yu, Tzong-Shiue; Kim, Ahleum; Kernie, Steven G

    2015-01-01

    Traumatic brain injury (TBI) is ubiquitous and effective treatments for it remain supportive largely due to uncertainty over how endogenous repair occurs. Recently, we demonstrated that hippocampal injury-induced neurogenesis is one mechanism underlying endogenous repair following TBI. Donepezil is associated with increased hippocampal neurogenesis and has long been known to improve certain aspects of cognition following many types of brain injury through unknown mechanisms. By coupling donepezil therapy with temporally regulated ablation of injury-induced neurogenesis using nestin-HSV transgenic mice, we investigated whether the pro-cognitive effects of donepezil following injury might occur through increasing neurogenesis. We demonstrate that donepezil itself enhances neurogenesis and improves cognitive function following TBI, even when injury-induced neurogenesis was inhibited. This suggests that the therapeutic effects of donepezil in TBI occur separately from its effects on neurogenesis.

  16. Donepezil rescues spatial learning and memory deficits following traumatic brain injury independent of its effects on neurogenesis.

    Directory of Open Access Journals (Sweden)

    Tzong-Shiue Yu

    Full Text Available Traumatic brain injury (TBI is ubiquitous and effective treatments for it remain supportive largely due to uncertainty over how endogenous repair occurs. Recently, we demonstrated that hippocampal injury-induced neurogenesis is one mechanism underlying endogenous repair following TBI. Donepezil is associated with increased hippocampal neurogenesis and has long been known to improve certain aspects of cognition following many types of brain injury through unknown mechanisms. By coupling donepezil therapy with temporally regulated ablation of injury-induced neurogenesis using nestin-HSV transgenic mice, we investigated whether the pro-cognitive effects of donepezil following injury might occur through increasing neurogenesis. We demonstrate that donepezil itself enhances neurogenesis and improves cognitive function following TBI, even when injury-induced neurogenesis was inhibited. This suggests that the therapeutic effects of donepezil in TBI occur separately from its effects on neurogenesis.

  17. Genetics

    Science.gov (United States)

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  18. Control of the rescue and replication of Semliki Forest virus recombinants by the insertion of miRNA target sequences.

    Directory of Open Access Journals (Sweden)

    Kaspar Ratnik

    Full Text Available Due to their broad cell- and tissue-tropism, alphavirus-based replication-competent vectors are of particular interest for anti-cancer therapy. These properties may, however, be potentially hazardous unless the virus infection is controlled. While the RNA genome of alphaviruses precludes the standard control techniques, host miRNAs can be used to down-regulate viral replication. In this study, target sites from ubiquitous miRNAs and those of miRNAs under-represented in cervical cancer cells were inserted into replication-competent DNA/RNA layered vectors of Semliki Forest virus. It was found that in order to achieve the most efficient suppression of recombinant virus rescue, the introduced target sequences must be fully complementary to those of the corresponding miRNAs. Target sites of ubiquitous miRNAs, introduced into the 3' untranslated region of the viral vector, profoundly reduced the rescue of recombinant viruses. Insertion of the same miRNA targets into coding region of the viral vector was approximately 300-fold less effective. Viruses carrying these miRNAs were genetically unstable and rapidly lost the target sequences. This process was delayed, but not completely prevented, by miRNA inhibitors. Target sites of miRNA under-represented in cervical cancer cells had much smaller but still significant effects on recombinant virus rescue in cervical cancer-derived HeLa cells. Over-expression of miR-214, one of these miRNAs, reduced replication of the targeted virus. Though the majority of rescued viruses maintained the introduced miRNA target sequences, genomes with deletions of these sequences were also detected. Thus, the low-level repression of rescue and replication of targeted virus in HeLa cells was still sufficient to cause genetic instability.

  19. Control of the rescue and replication of Semliki Forest virus recombinants by the insertion of miRNA target sequences.

    Science.gov (United States)

    Ratnik, Kaspar; Viru, Liane; Merits, Andres

    2013-01-01

    Due to their broad cell- and tissue-tropism, alphavirus-based replication-competent vectors are of particular interest for anti-cancer therapy. These properties may, however, be potentially hazardous unless the virus infection is controlled. While the RNA genome of alphaviruses precludes the standard control techniques, host miRNAs can be used to down-regulate viral replication. In this study, target sites from ubiquitous miRNAs and those of miRNAs under-represented in cervical cancer cells were inserted into replication-competent DNA/RNA layered vectors of Semliki Forest virus. It was found that in order to achieve the most efficient suppression of recombinant virus rescue, the introduced target sequences must be fully complementary to those of the corresponding miRNAs. Target sites of ubiquitous miRNAs, introduced into the 3' untranslated region of the viral vector, profoundly reduced the rescue of recombinant viruses. Insertion of the same miRNA targets into coding region of the viral vector was approximately 300-fold less effective. Viruses carrying these miRNAs were genetically unstable and rapidly lost the target sequences. This process was delayed, but not completely prevented, by miRNA inhibitors. Target sites of miRNA under-represented in cervical cancer cells had much smaller but still significant effects on recombinant virus rescue in cervical cancer-derived HeLa cells. Over-expression of miR-214, one of these miRNAs, reduced replication of the targeted virus. Though the majority of rescued viruses maintained the introduced miRNA target sequences, genomes with deletions of these sequences were also detected. Thus, the low-level repression of rescue and replication of targeted virus in HeLa cells was still sufficient to cause genetic instability.

  20. How to perform meaningful estimates of genetic effects.

    Science.gov (United States)

    Alvarez-Castro, José M; Le Rouzic, Arnaud; Carlborg, Orjan

    2008-05-02

    Although the genotype-phenotype map plays a central role both in Quantitative and Evolutionary Genetics, the formalization of a completely general and satisfactory model of genetic effects, particularly accounting for epistasis, remains a theoretical challenge. Here, we use a two-locus genetic system in simulated populations with epistasis to show the convenience of using a recently developed model, NOIA, to perform estimates of genetic effects and the decomposition of the genetic variance that are orthogonal even under deviations from the Hardy-Weinberg proportions. We develop the theory for how to use this model in interval mapping of quantitative trait loci using Halley-Knott regressions, and we analyze a real data set to illustrate the advantage of using this approach in practice. In this example, we show that departures from the Hardy-Weinberg proportions that are expected by sampling alone substantially alter the orthogonal estimates of genetic effects when other statistical models, like F2 or G2A, are used instead of NOIA. Finally, for the first time from real data, we provide estimates of functional genetic effects as sets of effects of natural allele substitutions in a particular genotype, which enriches the debate on the interpretation of genetic effects as implemented both in functional and in statistical models. We also discuss further implementations leading to a completely general genotype-phenotype map.

  1. How to perform meaningful estimates of genetic effects.

    Directory of Open Access Journals (Sweden)

    José M Alvarez-Castro

    2008-05-01

    Full Text Available Although the genotype-phenotype map plays a central role both in Quantitative and Evolutionary Genetics, the formalization of a completely general and satisfactory model of genetic effects, particularly accounting for epistasis, remains a theoretical challenge. Here, we use a two-locus genetic system in simulated populations with epistasis to show the convenience of using a recently developed model, NOIA, to perform estimates of genetic effects and the decomposition of the genetic variance that are orthogonal even under deviations from the Hardy-Weinberg proportions. We develop the theory for how to use this model in interval mapping of quantitative trait loci using Halley-Knott regressions, and we analyze a real data set to illustrate the advantage of using this approach in practice. In this example, we show that departures from the Hardy-Weinberg proportions that are expected by sampling alone substantially alter the orthogonal estimates of genetic effects when other statistical models, like F2 or G2A, are used instead of NOIA. Finally, for the first time from real data, we provide estimates of functional genetic effects as sets of effects of natural allele substitutions in a particular genotype, which enriches the debate on the interpretation of genetic effects as implemented both in functional and in statistical models. We also discuss further implementations leading to a completely general genotype-phenotype map.

  2. Genetic and environmental effects on performance traits of ...

    African Journals Online (AJOL)

    Keywords: Beef cattle, birth mass, environmental effects, gain, genetic effects, weaning mass. * Author to whom .... the early calving silage group heifers seenls to be a lower milk ... An economic evaluation of the three managemsnt systems ...

  3. Acute effects of neonatal dexamethasone treatment on proliferation and astrocyte immunoreactivity in hippocampus and corpus callosum: towards a rescue strategy.

    Science.gov (United States)

    Claessens, Sanne E F; Belanoff, Joseph K; Kanatsou, Sofia; Lucassen, Paul J; Champagne, Danielle L; de Kloet, E Ronald

    2012-10-30

    Dexamethasone (DEX), a synthetic glucocorticoid, has been used to treat respiratory distress syndrome in prematurely born infants. Despite the important short-term benefit on lung function, there is growing concern about the long-term outcome of this treatment, since follow-up studies of prematurely born infants have shown lasting adverse neurodevelopmental effects. Since the mechanism underlying these neurodevelopmental impairments is largely unknown, the aim of the present study was (i) to investigate the acute effects of neonatal DEX treatment on the developing brain; and (ii) to block specifically the effects of DEX on the brain by central administration of the glucocorticoid receptor (GR) antagonist mifepristone. Long Evans rat pups were injected subcutaneously with tapering doses of DEX or saline (SAL) on postnatal days (pnd) 1, 2 and 3. Separate groups received intracerebroventricular injections with mifepristone prior to DEX treatment. On pnd 4 and 10, pups were sacrificed and brains collected for analysis of cell proliferation (Ki-67) and astrogliosis (GFAP). We report that neonatal DEX treatment reduced hippocampal cell proliferation on pnd 4, an effect that was normalized by pnd 10. Although on pnd 4, GFAP expression was not affected, DEX treatment caused a significant reduction in the number and density of astrocytes in hippocampus and corpus callosum on pnd 10, which was normalized by mifepristone pre-treatment. These acute alterations in the neonate brain might underlie later functional impairments reported in DEX-treated animals and humans and further illustrate the impact of early GR activation on brain development.

  4. Cold-water immersion and iced-slush ingestion are effective at cooling firefighters following a simulated search and rescue task in a hot environment.

    Science.gov (United States)

    Walker, Anthony; Driller, Matthew; Brearley, Matt; Argus, Christos; Rattray, Ben

    2014-10-01

    Firefighters are exposed to hot environments, which results in elevated core temperatures. Rapidly reducing core temperatures will likely increase safety as firefighters are redeployed to subsequent operational tasks. This study investigated the effectiveness of cold-water immersion (CWI) and iced-slush ingestion (SLUSH) to cool firefighters post-incident. Seventy-four Australian firefighters (mean ± SD age: 38.9 ± 9.0 years) undertook a simulated search and rescue task in a heat chamber (105 ± 5 °C). Testing involved two 20-min work cycles separated by a 10-min rest period. Ambient temperature during recovery periods was 19.3 ± 2.7 °C. Participants were randomly assigned one of three 15-min cooling protocols: (i) CWI, 15 °C to umbilicus; (ii) SLUSH, 7 g·kg(-1) body weight; or (iii) seated rest (CONT). Core temperature and strength were measured pre- and postsimulation and directly after cooling. Mean temperatures for all groups reached 38.9 ± 0.9 °C at the conclusion of the second work task. Both CWI and SLUSH delivered cooling rates in excess of CONT (0.093 and 0.092 compared with 0.058 °C·min(-1)) and reduced temperatures to baseline measurements within the 15-min cooling period. Grip strength was not negatively impacted by either SLUSH or CONT. CWI and SLUSH provide evidence-based alternatives to passive recovery and forearm immersion protocols currently adopted by many fire services. To maximise the likelihood of adoption, we recommend SLUSH ingestion as a practical and effective cooling strategy for post-incident cooling of firefighters in temperate regions.

  5. 《救迷良方》与戒除鸦片烟毒%Jiu mi liang fang (Effective Prescriptions for Rescuing Addict) and quitting from opium addiction

    Institute of Scientific and Technical Information of China (English)

    刘悦

    2008-01-01

    清代青浦著名医家何其伟,在鸦片烟毒泛滥、严重危害人民健康之际,应林则徐要求,秉着医家的责任感和同情心,辑录戒烟方论而成.这部现存最早的戒烟专著,理法方药齐备,对鸦片的危害、性味归经,瘾成过程及病机、瘾发症状等,均有较全面、正确的认识,指出戒烟需先立志坚定,以治心瘾,所载戒烟方药,经过了实践验证,当时流传甚广;所述戒烟思想和方法,一直为后世沿用,在民间广泛传播.%When opium was running rampantly and seriously damaging people's health in the Qing dynasty,in response to the request of Lin Ze-xu,He Qi-wei,a contemporary famous physician at Qingpu,based on his own professional responsibility and compassion,compiled Jiu mi liang fang (Effective Prescriptions for Rescuing Addict),the first extant monograph on quitting opium which includes the detriments of opium,its nature,taste and channel tropism,causes and pathogenesis of addiction,and the symptoms.He pointed out that the powerful will was essential.The prescriptions recorded in the book were effective through the proof of practice and very popular at that time.The thought and measures he mentioned are stillin use even now,and spread widely in the folks.

  6. Genetic parameters of direct and maternal effects for calving ease

    NARCIS (Netherlands)

    Eaglen, S.A.E.; Bijma, P.

    2009-01-01

    Genetic parameters of direct and maternal effects for calving ease in Dutch dairy cattle were estimated using 677,975 calving ease records from second calving. Particular emphasis was given to the presence and impact of environmental dam-offspring covariances on the estimated direct-maternal genetic

  7. Genetic effects of radiation. [Extrapolation of mouse data to man

    Energy Technology Data Exchange (ETDEWEB)

    Selby, P.B.

    1976-01-01

    Data are reviewed from studies on the genetic effects of x radiation in mice and the extrapolation of the findings for estimating genetic hazards in man is discussed. Data are included on the frequency of mutation induction following acute or chronic irradiation of male or female mice at various doses and dose rates.

  8. A standardised abundance index from commercial spotting data of southern bluefin tuna (Thunnus maccoyii: random effects to the rescue.

    Directory of Open Access Journals (Sweden)

    Marinelle Basson

    Full Text Available Commercial aerial spotting of surface schools of juvenile southern bluefin tuna (SBT, Thunnus maccoyii, is conducted as part of fishing operations in the Great Australian Bight in summer. This provides the opportunity to efficiently collect large amounts of data on sightings of SBT. The data can potentially be used to construct a time-series index of relative abundance by standardising the data for issues such as weather, spotter ability and ocean conditions. Unlike a statistically designed survey, the commercial spotting is governed by business considerations and fishing operations. The SBT dataset is therefore highly unbalanced with regard to spotters operating in each season. This complicates the standardisation of the data, particularly with regard to interactions between covariates. We show how a generalized additive model with random effects can simplify both the fitting of the model and the construction of an index, while also avoiding the need to leave out strata or interaction terms that are important. The approach is applicable to standardisation of more traditional catch and effort data.

  9. Effect of rehabilitation training stray rescue psychiatric patients%流浪救助精神病患者的康复训练效果

    Institute of Scientific and Technical Information of China (English)

    曾海燕; 梁润娣; 谢灵玉

    2015-01-01

    Objective to study the effect of rehabilitation training in the application of stray salvage psychiatric patients. Method The clinical data of 58 patients with stray rescue mental illness were selected,according to the principle of digital random grouping,the patients were divided into two groups,each group 29 cases. Compared with conventional treatment,the observation group was given rehabilitation training on the basis of the control group,comparing the rehabilitation effect of two groups of patients with PANSS( positive and negative symptoms scale score). Results①after treatment,the PANSS scores of observation group was superior to the control group,with statistical significance(P﹤0. 05). ②after treat-ment,the grading of observation group was better than that of control group,compared with statistical significance ( P ﹤ 0. 05 ) . Conclusion Rehabilitation training can make the implementation of the stray rescue psychiatric patients′ability of social adaptation,enhance life ability,organization ability,can make the psychotic symptoms in patients with ease,worthy of clinical popularization and application.%目的:研究康复训练在流浪救助精神病患者中的应用效果。方法:选取58例流浪救助精神病患者的临床资料,根据数字随机分组法原则,将患者分为两组,每组各29例病例。对照组为常规治疗,观察组在对照组基础上给予康复训练治疗,比较两组患者的康复效果与PANSS(阳性和阴性症状量表评分情况)。结果:①治疗后,观察组的PANSS评分情况优于对照组,对比具有统计学意义(P﹤0.05)。②治疗后,观察组的评分情况优于对照组,对比具有统计学意义(P﹤0.05)。结论:康复训练的实施可以使流浪救助精神病患者的社会适应能力、生活能力、组织能力大大提升,能够使患者精神病症状得到缓解,值得临床推广应用。

  10. Distinct phenotypes of new transmembrane-domain neuregulin 1 mutant mice and the rescue effects of valproate on the observed schizophrenia-related cognitive deficits.

    Directory of Open Access Journals (Sweden)

    Ju-Chun ePei

    2014-04-01

    Full Text Available Accumulating evidence suggests that neuregulin 1 (NRG1 might be involved in the neurodevelopment, neural plasticity, GABAergic neurotransmission and pathogenesis of schizophrenia. NRG1 is abundantly expressed in the hippocampus, and emerging studies have begun to reveal the link between NRG1 signaling and cognitive deficits in schizophrenic patients. Because the transmembrane domain of NRG1 is vital for both forward and reverse signaling cascades, new Nrg1-deficient mice that carry a truncation of the transmembrane domain of the Nrg1 gene were characterized and used in this study to test a NRG1 loss-of-function hypothesis for schizophrenia. Both male and female Nrg1 heterozygous mutant mice and their wild-type littermates were used in a series of 4 experiments to characterize the impact of Nrg1 on behavioral phenotypes and to determine the importance of Nrg1 in the regulation of hippocampal neuromorphology and local GABAergic interneurons. First, a comprehensive battery of behavioral tasks indicated that male Nrg1-deficient mice exhibited significant impairments in cognitive functions. Second, pharmacological challenges were conducted and revealed that Nrg1 haploinsufficiency altered GABAergic activity in males. Third, although no genotype-specific neuromorphological alterations were found in the hippocampal CA1 pyramidal neurons, significant reductions in the hippocampal expressions of GAD67 and parvalbumin were revealed in the Nrg1-deficient males. Fourth, chronic treatment with valproate rescued the observed behavioral deficits and hippocampal GAD67 reduction in Nrg1-deficient males. Collectively, these results indicate the potential therapeutic effect of valproate and the importance of Nrg1 in the regulation of cognitive functions and hippocampal GABAergic interneurons, especially in males.

  11. Rescue of failed filtering blebs with ab interno trephination.

    Science.gov (United States)

    Shihadeh, Wisam A; Ritch, Robert; Liebmann, Jeffrey M

    2006-06-01

    We evaluated the effectiveness of ab interno automated trephination as a technique for rescuing failed mature filtering blebs. A retrospective chart review of 40 failed blebs of 38 patients who had a posttrephination follow-up period of at least 3 months was done. With success defined as intraocular pressure (IOP) control with other modalities of management. Complications were few. We believe that ab interno trephination is an excellent option for rescuing selected failed filtering blebs.

  12. Development of an improved polykaryon-based influenza virus rescue system

    Directory of Open Access Journals (Sweden)

    Bourret Vincent

    2012-09-01

    Full Text Available Abstract Background Virus rescue from transfected cells is an extremely useful technique that allows defined viral clones to be engineered for the purpose of rational vaccine design or fundamental reverse genetics studies. However, it is often hindered by low primary rescue success rates or yields, especially with field-derived viral strains. Approach We investigated the possibility of enhancing influenza virus rescue by eliciting cell fusion to increase the chances of having all necessary plasmids expressed within the same polykaryon. To this end we used the Maedi-Visna Virus envelope protein which has potent fusion activity in cells from a wide range of different species. Results Co-transfecting cells with the eight plasmids necessary to rescue influenza virus plus a plasmid expressing the Maedi-Visna Virus envelope protein resulted in increased rescue efficiency. In addition, partial complements of the 8-plasmid rescue system could be transfected into two separate populations of cells, which upon fusion led to live virus rescue. Conclusion The simple modification described here has the potential to improve the efficiency of the virus rescue process and expand the potential applications for reverse genetic studies.

  13. The quantitative genetics of indirect genetic effects: a selective review of modelling issues : Review

    NARCIS (Netherlands)

    Bijma, P.

    2014-01-01

    Indirect genetic effects (IGE) occur when the genotype of an individual affects the phenotypic trait value of another conspecific individual. IGEs can have profound effects on both the magnitude and the direction of response to selection. Models of inheritance and response to selection in traits sub

  14. Investigation of the Compton Rescue technique

    Energy Technology Data Exchange (ETDEWEB)

    Stevenson, Alexander W.; Williams, Christopher S.; Burggraf, Larry W.; Kowash, Benjamin R.

    2015-05-15

    This paper summarizes an investigation of a process to improve the efficiency of position-sensitive gamma-radiation measurements from thin, planar semiconductor detectors. The method entails the use of a second, more efficient coaxial bulk detector placed behind a position-sensitive planar detector to collect Compton scattered photons that escape the volume of the position-sensitive detector. The technique is termed Compton rescue. The investigation consisted of two phases. First, a Monte-Carlo simulation was conducted to test feasibility of employing the technique. The simulation predicted the increase in detection efficiency by directly counting the number of photons added to the data set by Compton rescue and comparing to the number detected without the use of the technique. The simulation indicated that the technique could improve detection efficiency by approximately doubling the number of full-energy photons detected. The technique was tested in a laboratory setting using a coaxial semiconductor detector in coincidence with a thin, planar position-sensitive semiconductor detector. An efficiency improvement of approximately 20% was measured. The effect of Compton rescue data on the energy resolution of the position-sensitive detector was also determined.

  15. Joseph Conrad's tormented Rescue (fantasy).

    Science.gov (United States)

    Freedman, William

    2014-02-01

    Joseph Conrad was a notoriously tormented writer for whom the creative act was often a punishment severe enough to drive him into paralyzing depressions that delayed the completion of his novels, sometimes for years. By far the most agonizing of these projects was The Rescue, a novel he began in 1898, abandoned a year later, tried unsuccessfully to continue several times over the next two decades, but was only able to resume in 1918 and to complete, after another tortured two-year struggle, in 1920. An explanation for this incapacity, that is powerfully suggested by the novel's evocative title and perhaps unintentionally ironic subtitle (A Romance of the Shallows) has not yet been explored. Using Freud's 1910 essay on the rescue fantasy, "Contributions to the Psychology of Love: A Special Type of Choice of Object Made by Men," and Emanuel Berman's instructive revision and expansion of the concept in his 2003 American Imago essay, "Ferenczi, Rescue, and Utopia," I argue that a substantial explanation for Conrad's tormented history with The Rescue is ascribable to its quite remarkably faithful treatment of a rescue fantasy with deep and disabling resonance for its author. More specifically, the difficulty was compounded by the novel's dramatization of the soul-crushing conflict between two such fantasies: one in the service of the masculine ideal of unflinching dedication to a heroic purpose, the other promising satisfaction to the equally potent demands of emotional and sexual desire. Features of Conrad's narrative fit so tightly and consistently with the theory as Freud (and Abraham) proposed and as Berman elaborated it that The Rescue offers itself as one of those rare and reinforcing instances wherein the literary text seems to validate the psychoanalytic theory at least as persuasively as the theory "understands" the text.

  16. The genetics of maternal care: direct and indirect genetic effects on phenotype in the dung beetle Onthophagus taurus.

    Science.gov (United States)

    Hunt, John; Simmons, Leigh W

    2002-05-14

    While theoretical models of the evolution of parental care are based on the assumption of underlying genetic variance, surprisingly few quantitative genetic studies of this life-history trait exist. Estimation of the degree of genetic variance in parental care is important because it can be a significant source of maternal effects, which, if genetically based, represent indirect genetic effects. A major prediction of indirect genetic effect theory is that traits without heritable variation can evolve because of the heritable environmental variation that indirect genetic effects provide. In the dung beetle, Onthophagus taurus, females provide care to offspring by provisioning a brood mass. The size of the brood mass has pronounced effects on offspring phenotype. Using a half-sib breeding design we show that the weight of the brood mass females produce exhibits significant levels of additive genetic variance due to sires. However, variance caused by dams is considerably larger, demonstrating that maternal effects are also important. Body size exhibited low additive genetic variance. However, body size exerts a strong maternal influence on the weight of brood masses produced, accounting for 22% of the nongenetic variance in offspring body size. Maternal body size also influenced the number of offspring produced but there was no genetic variance for this trait. Offspring body size and brood mass weight exhibited positive genetic and phenotypic correlations. We conclude that both indirect genetic effects, via maternal care, and nongenetic maternal effects, via female size, play important roles in the evolution of phenotype in this species.

  17. Loss of tau rescues inflammation-mediated neurodegeneration

    Directory of Open Access Journals (Sweden)

    Nicole eMaphis

    2015-06-01

    Full Text Available Neuroinflammation is one of the neuropathological hallmarks of Alzheimer’s disease (AD and related tauopathies. Activated microglia spatially coexist with microtubule-associated protein tau (Mapt or tau-burdened neurons in the brains of human AD and non-AD tauopathies. Numerous studies have suggested that neuroinflammation precedes tau pathology and that induction or blockage of neuroinflammation via lipopolysaccharide (LPS or anti-inflammatory compounds (such as FK506 accelerate or block tau pathology, respectively in several animal models of tauopathy. We have previously demonstrated that microglia-mediated neuroinflammation via deficiency of the microglia-specific chemokine (fractalkine receptor, CX3CR1, promotes tau pathology and neurodegeneration in a mouse model of LPS-induced systemic inflammation. Here, we demonstrate that tau mediates the neurotoxic effects of LPS in Cx3cr1-/- mice. First, Mapt+/+ neurons displayed elevated levels of Annexin V (A5 and TUNEL (markers of neurodegeneration when co-cultured with LPS-treated Cx3cr1-/-microglia, which is rescued in Mapt-/- neurons. Second, a neuronal population positive for phospho-S199 (AT8 tau in the dentate gyrus is also positive for activated or cleaved caspase (CC3 in the LPS-treated Cx3cr1-/- mice. Third, genetic deficiency for tau in Cx3cr1-/- mice resulted in reduced microglial activation, altered expression of inflammatory genes and a significant reduction in the number of neurons positive for CC3 compared to Cx3cr1-/- mice. Finally, Cx3cr1-/- mice exposed to LPS displayed a lack of inhibition in an open field exploratory behavioral test, which is rescued by tau deficiency. Taken together, our results suggest that pathological alterations in tau mediate inflammation-induced neurotoxicity and that deficiency of Mapt is neuroprotective. Thus, therapeutic approaches towards either reducing tau levels or blocking neuroinflammatory pathways may serve as a potential strategy in treating

  18. Effect of intrapartum nursing of NICU nurse specialist to rescue extremely low birth weight infants%NICU专科护士产时护理对超低出生体重儿抢救效果的影响

    Institute of Scientific and Technical Information of China (English)

    于新颖; 刘丹妮; 王玲

    2012-01-01

    目的 探讨产时NICU专科护士配合抢救对超低出生体重儿抢救效果的影响.方法 将2008年11月至2012年1月出生的超低出生体重儿按出生单双日分组,单日为观察组30例,产时为NICU专科护士配合抢救和护理;双日为对照组30例,产时是产科接产医生配合抢救,观察配合人员改变后对抢救效果的影响.结果 观察组5 min Apgar评分明显高于对照组[(8.13±0.68)分比(6.73±0.83)分],差异有统计学意义(t=7.152,P<0.01).观察组体温、pH值、BE值明显高于对照组,差异均有统计学意义(t值分别为13.274,6.152,2.691;P均<0.05);抢救时间较对照组缩短[(12.67±2.86) min比(14.33±2.86)min],差异亦有统计学意义(t=-2.260,P<0.05).结论 产时NICU专科护士配合抢救和护理可明显提高超低出生体重儿的抢救效果,缩短抢救时间,为后续治疗奠定基础.%Objective To investigate the rescuing effect of extremely low birth weight infants under the assistance of intrapanrtum NICU nurse specialist.Methods Sixty extremely low birth weight infants born from November 2008 to January 2012 were divided into two groups according to the odd-even date of their birth.30 infants who were born on odd days were the observation group and rescued and nursed by intrapanrtum NICU nurse specialist,while 30 infants who were born on even days were the control group and rescued by obstetric doctors.The effect of personnel change on rescuing was observed and compared.Results In the observation group,5 minute Apgar scorewas significantly higher than that in the control group [(8.13 ±0.68) vs (6.73 ±0.83) (t = 7.152,P < 0.01) ; the body temperature,pH value and BE value were all significantly higher than those in the control group (t = 13.274,6.152,2.691,respectively;P <0.05) ; rescue time was shorter than that of the control group [(12.67 ± 2.86) min vs (14.33 ± 2.86) min] (t =-2.260,P < 0.05).Conclusions The assistance and nursing by

  19. [Investigation on the psychological quality of mine rescue staff].

    Science.gov (United States)

    Lu, Yao; Wang, Ruzhu; Liu, Yuan; Bai, Yuping; Ma, Dong; Zhang, Chunmin; Zhang, Jiajia; Yuan, Teng; Huang, Na; Yang, Ping; Guo, Feifei; Sun, Haixia; Wang, Juan; Zhou, Fengzeng; Yao, Sanqiao

    2014-04-01

    To evaluate the psychological quality and its influencing factors of mine rescue staff. A total of 310 on front line rescue staff from the mines in Tangshan were sampled by random cluster sampling method.Our own designed measurement tools for psychological quality, including Eysenck personality questionnaire (EPQ), attention test scale, willpower test scale and reactive agility test were used to investigate the psychological quality of mine rescue staff. All tests were conducted in quiet state.Other information including age, length of service for rescue, sex, education, smoking and drinking, and so on were collected at the same time. The mood and influencing factors on psychological quality of the rescue staff were also analyzed. The personality traits of mine rescue staff are close to the national norm.0.6% (2/310) staff showed weak willpower.20.7% (64/310) staff had unstable mood. The E and N factor scores in 20-29 years old group (12.7 ± 4.3 and 12.1 ± 5.1) were higher than 30-39, 40-49, 50-59 years old groups (E factor scores:11.4 ± 3.9, 10.6 ± 3.7 and 10.7 ± 3.9; N factor scores:11.0 ± 5.1, 9.4 ± 4.9 and 6.3 ± 3.4, respectively) (FE = 4.28, FN = 11.35, all P quality of mine rescue staff was mainly influenced by the length of service (β'E factor = -0.12, β'willpower = -0.12), the amount of participating rescue (β'P factor = 0.12, β'N factor = -0.14), alerting duty (β'L factor = 0.16, β 'error number of target tracking = -0.161) , daily training (β'attention = 0.22,β'total number of aimed at the test = -0.18) and life events (β'N factor = -0.14,β'L factor = 0.13,β'correct number of target tracking = -0.18). The mine rescue staff had high level psychological quality, length of service. the amount of participating rescue, and life events in the year effect the psychological quality of mine rescue staff.

  20. Rotorcraft and Enabling Robotic Rescue

    Science.gov (United States)

    Young, Larry A.

    2010-01-01

    This paper examines some of the issues underlying potential robotic rescue devices (RRD) in the context where autonomous or manned rotorcraft deployment of such robotic systems is a crucial attribute for their success in supporting future disaster relief and emergency response (DRER) missions. As a part of this discussion, work related to proof-of-concept prototyping of two notional RRD systems is summarized.

  1. CERN Fire Brigade rescue simulation

    CERN Multimedia

    Maximilien Brice

    2004-01-01

    The CERN Fire Brigade is made up of experienced firemen from all of the 20 Member States. In these images they are seen at a 'Discovery Monday' held at the Microcosm exhibition. Here visitors learn how the Fire Brigade deal with various situations, including a simulated cave rescue performed by the Hazardous Environments Response Team.

  2. Self-Rescue Mask Training

    CERN Multimedia

    2013-01-01

    Nine new self-rescue mask instructors have been trained since early 2013, which provides CERN with a total of 26 self-rescue mask instructors to date. This will allow us to meet the increasing training needs caused by the Long Shut Down LS1.   The self-rescue mask instructors have trained 1650 persons in 2012 and about 500 persons since the beginning of the year on how to wear the masks properly. We thank all the instructors and all the persons that made this training possible. Please remember that the self-rescue masks training sessions are scheduled as follows: Basic course: Tuesday and Thursday mornings (2 sessions – 8.30 AM and 10.30 AM), duration:  1.30 hour, in French and English – registration via CERN online training catalogue – Course code 077Y00. Refresher training : Monday mornings (2 sessions – 8.30 AM and 10.30 AM), duration: 1.30 hour , in French and English – registration via CERN online training catalogue &...

  3. Amniotic fluid stem cells rescue both in vitro and in vivo growth, innervation, and motility in nitrofen-exposed hypoplastic rat lungs through paracrine effects.

    Science.gov (United States)

    Pederiva, F; Ghionzoli, M; Pierro, A; De Coppi, P; Tovar, J A

    2013-01-01

    Lung hypoplasia can be prevented in vitro by retinoic acid (RA). Recent evidence suggests that amniotic fluid stem (AFS) cells may integrate injured lungs and influence their recovery. We tested the hypothesis that AFS cells might improve lung growth and motility by paracrine mechanisms. Pregnant rats received either nitrofen or vehicle on E9.5. In vitro E13 embryonic lungs were cultured in the presence of culture medium alone or with RA, basophils, or AFS cells. In vivo green fluorescent protein-expressing (GFP(+)) rat AFS cells were transplanted in nitrofen-exposed rats on E10.5. E13 lung explants were cultured before analysis. The surface, the number of terminal buds, and the frequency of bronchial contractions were assessed. Protein gene product 9.5 (PGP 9.5) and α-actin protein levels were measured. The lung explants transplanted with AFS cells were stained for α-actin, PGP 9.5, and TTF-1. The levels of FGF-10, VEGFα, and TGF-β1 secreted by the AFS cells in the culture medium were measured. Comparison between groups was made by ANOVA. In vitro, the surface, the number of terminal buds, and the bronchial peristalsis were increased in nitrofen+AFS cell explants in comparison with nitrofen-exposed lungs. While nitrofen+RA lungs were similar to nitrofen+AFS ones, basophils did not normalize these measurements. PGP 9.5 protein was decreased in nitrofen lungs, but after adding AFS cells, the value was similar to controls. No differences were found in the expression of α-actin. In vivo, the surface, number of terminal buds, and peristalsis were similar to control after injection of AFS cells in nitrofen-exposed rats. Colocalization with TTF-1-positive cells was found. The levels of FGF-10 and VEGFα were increased in nitrofen+AFS cell explants, while the levels of TGF-β1 were similar to controls. Lung growth, bronchial motility, and innervation were decreased in nitrofen explants and rescued by AFS cells both in vitro and in vivo, similarly to that observed

  4. Application and effects of team-triage system in the rescue of mass blast casualties%成组化分诊模式在应对突发大批伤员救治中的应用

    Institute of Scientific and Technical Information of China (English)

    黄萍; 沈红; 陈雁; 刘瑛

    2012-01-01

    Objective To evaluate the effects of team-triage system in the rescue of mass casualties in grade-Ⅲ hospitals. Methods A triage team was set up based on the mode of team-triage system. Totally 124 blast injured patients were triaged and rescued according to the simple triage and rapid treatment procedure. Results Of the 124 wounded patients,35 patients were triaged to red area,30 patients to yellow area,and 59 patients to green area. The triage qualification rate was 100%. Thirty-four patients suffered from severe multiple injuries or combined injuries. One hundred and eighteen patients received debridement operation and ten patients received damage control operation. One patient died and the rescue success rate was 97.1%. Conclusions The mode of team-triage system can ensure the rapid and orderly triage and rescue procedure, raise the efficiency of triage management and increase patient satisfaction in the rescue of group wounded patients.%目的 探讨成组化分诊模式应用于三级医院应对大规模成批伤员救治的效果.方法 按照成组化分诊模式建立检伤分诊小组,按照简单检伤分类及快速治疗程序对124例爆炸伤伤员进行检伤分流管理.结果 124例伤员中分流到红区救治35例,黄区30例,绿区59例,分诊合格率100%.本组中严重多发伤及复合伤34例,行清创手术118例,损害控制性手术10例,死亡1例,抢救成功率97.1%.结论 成组化分诊模式应用于三级医院应对突发大规模成批伤员救治,可以迅速建立良好的检伤救治秩序、提高分诊全程管理的效率和患者满意度.

  5. Genetic basis and detection of unintended effects in genetically modified crop plants

    NARCIS (Netherlands)

    Ladics, G.S.; Bartholomaeus, A.; Bregitzer, P.; Doerrer, N.G.; Gray, A.; Holzhauzer, T.; Jordan, M.; Keese, P.; Kok, E.J.; Macdonald, P.; Parrott, W.; Privalle, L.; Raybould, A.; Rhee, S.Y.; Rice, E.; Romeis, J.; Vaughn, J.; Wal, J.M.; Glenn, K.

    2015-01-01

    In January 2014, an international meeting sponsored by the International Life Sciences Institute/Health and Environmental Sciences Institute and the Canadian Food Inspection Agency titled “Genetic Basis of Unintended Effects in Modified Plants” was held in Ottawa, Canada, bringing together over 75 s

  6. 78 FR 39531 - Mine Rescue Teams

    Science.gov (United States)

    2013-07-01

    ... Rescue Teams; CFR Correction #0;#0;Federal Register / Vol. 78 , No. 126 / Monday, July 1, 2013 / Rules... Rescue Teams CFR Correction In Title 30 of the Code of Federal Regulations, Parts 1 to 199, revised as of... Miner Act Requirements for Underground Coal Mine Operators and Mine Rescue Teams Type of mine...

  7. Longitudinal stability in genetic effects on children's conversational language productivity.

    Science.gov (United States)

    DeThorne, Laura Segebart; Harlaar, Nicole; Petrill, Stephen A; Deater-Deckard, Kirby

    2012-06-01

    The authors examined the longitudinal stability of genetic and environmental influences on children's productive language sample measures during the early school-age years. Twin study methodology with structural equation modeling was used to derive univariate estimates of additive genetic (A), shared environmental (C), and nonshared environmental (E) effects on language measures at each of 2 time points, based on 487 twins at the 1st-grade time point and 387 twins at the 2nd-grade time point. To address questions of stability over time, the authors used longitudinal latent factor analysis. Stability in the Conversational Language factor was accounted for almost entirely by shared genetic effects between 1st and 2nd grade, meaning no new genetic effects were observed at the 2nd time point. In contrast, nonshared environmental effects were entirely time point specific, meaning whatever nonshared environmental influences were operating at the first time point were not influencing individual variation in the language factor at the second time point. The discussion in this article centers on possible candidates for both genetic and nonshared environmental effects as well as implications for clinical practice and future research.

  8. Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease

    OpenAIRE

    Mistry, Pramod K.; LIU, Jun; Sun, Li; Chuang, Wei-Lien; Yuen, Tony; Yang, Ruhua; Lu, Ping; Zhang, Kate; Li, Jianhua; Keutzer, Joan; Stachnik, Agnes; Mennone, Albert; Boyer, James L; Jain, Dhanpat; Brady, Roscoe O

    2014-01-01

    Type 1 Gaucher disease (GD1) is a rare autosomal recessive disorder caused by inherited mutations in the glucocerebrosidase (GBA1) gene. This disease results in a marked accumulation of glycosphingolipid substrates, causing visceromegaly, cytopenia, and osteopenia. Here, we have rescued this clinical phenotype in GD1 mice by genetically deleting Gba2, a gene encoding a downstream extralysosomal enzyme, GBA2. We also report that sphingosine production in GD1 patients may contribute to the low-...

  9. Rescue missions for totally buried avalanche victims: conclusions from 12 years of experience.

    Science.gov (United States)

    Hohlrieder, Matthias; Thaler, Stephanie; Wuertl, Walter; Voelckel, Wolfgang; Ulmer, Hanno; Brugger, Hermann; Mair, Peter

    2008-01-01

    The planning and execution of avalanche rescue missions to search for totally buried avalanche victims are mostly based on personal experience and preference, as evidence-based information from literature is almost completely missing. Hence, the aim of this study was to identify major factors determining the survival probability of totally buried victims during avalanche rescue missions carried out by organized rescue teams (Austrian Mountain Rescue Service, Tyrol). During the 12-year period studied, 109 totally buried persons (56 off-piste, 53 backcountry), were rescued or recovered; 18.3% survived to hospital discharge. Median depth of burial was 1.25 m; median duration of burial was 85 min. The majority (61.6%) of the rescue missions were conducted under considerably dangerous avalanche conditions. The probability of survival was highest when located visually and lowest for those located by avalanche transceiver; survival did not significantly differ between those found by rescue dogs and those located with avalanche probes. Multivariate analysis revealed short duration of burial and off-piste terrain to be the two independent predictors of survival. Whenever companion rescue fails, snow burial in an avalanche is associated with extraordinarily high mortality. Searching the avalanche debris with probe lines seems to be equally effective as compared to searching with rescue dogs. The potential hazard for rescuers during avalanche rescue missions comes mainly from self-triggered avalanches, hence thorough mission planning and critical risk-benefit assessment are of utmost importance for risk reduction.

  10. Erosion of Brassica incana Genetic Resources: Causes and Effects

    Science.gov (United States)

    Muscolo, A.; Settineri, G.; Mallamaci, C.; Papalia, T.; Sidari, M.

    2017-07-01

    Brassica incana Ten., possessing a number of useful agronomic traits, represents a precious genetic resource to be used in plant breeding programs to broaden the genetic base in most Brassica crop species. B. incana that grows on limestone cliffs is at risk of genetic erosion for environmental constraints and human activities. We studied the pedological conditions of a Calabrian site where the B. incana grows, and we correlated the soil properties to the physiological and biochemical aspects of B. incana to identify the causes and effects of the genetic erosion of this species. Our results evidenced that physical soil conditions did not affect B. incana growth and nutraceutical properties; conversely, biological soil properties modified its properties. We identified leaf pigments and secondary metabolites that can be used routinely as early warning indicators of plant threat, to evaluate in a short term the dynamic behavior of plants leading to species extinction.

  11. Drosophila simulans Lethal hybrid rescue mutation (Lhr) rescues inviable hybrids by restoring X chromosomal dosage compensation and causes fluctuating asymmetry of development

    Indian Academy of Sciences (India)

    R. N. Chatterjee; P. Chatterjee; A. Pal; M. Pal-Bhadra

    2007-12-01

    The Drosophila simulans Lhr rescues lethal hybrids from the cross of D. melanogaster and D. simulans. We describe here, the phenotypes of Lhr dependent rescue hybrids and demonstrate the effects of Lhr on functional morphology of the salivary chromosomes in the hybrids. Our results reveal that the phenotypes of the ‘Lhr dependent rescued’ hybrids were largely dependent on the genetic background and the dominance in species and hybrids, and not on Lhr. Cytological examination reveal that while the salivary chromosome of ‘larval lethal’ male carrying melanogaster X chromosome was unusually thin and contracted, in ‘rescued’ hybrid males (C$_{mel}_{mel}_{sim}$;A$_{mel}_{sim}$) the X chromosome showed typical pale staining, enlarged diameter and incorporated higher rate of 3H-uridine in presence of one dose Lhr in the genome. In hybrid males carrying simulans X chromosome (C$_{mel}_{sim}_{mel}$;A$_{mel}_{sim}$), enlarged width of the polytene X chromosome was noted in most of the nuclei, in Lhr background, and transcribed at higher rate than that of the single X chromosome of male. In hybrid females (both viable, e.g., C$_{mel}$ X$_{mel}$ X$_{sim}$; A$_{mel}$ A$_{sim}$ and rescued, e.g., C$_{mel}$ X$_{mel}$ X$_{mel}$; A$_{mel}$ A$_{sim}$), the functional morphology of the X chromosomes were comparable to that of diploid autosomes in presence of one dose of Lhr. In hybrid metafemales, (C$_{mel}_{mel}_{mel}_{sim}$; A$_{mel}_{sim}$), two dose of melanogaster X chromosomes and one dose of simulans X chromosome were transcribed almost at ‘female’ rate in hybrid genetic background in presence of one dose of Lhr. In rescued hybrid males, the melanogaster-derived X chromosome appeared to complete its replication faster than autosomes. These results together have been interpreted to have suggested that Lhr suppresses the lethality of hybrids by regulating functional activities of the X chromosome(s) for dosage compensation.

  12. Estimating Indirect Genetic Effects: Precision of Estimates and Optimum Designs

    NARCIS (Netherlands)

    Bijma, P.

    2010-01-01

    Social interactions among individuals are abundant both in natural and domestic populations. Such social interactions cause phenotypes of individuals to depend on genes carried by other individuals, a phenomenon known as indirect genetic effects (IGE). Because IGEs have drastic effects on the rate a

  13. Submarine rescue decompression procedure from hyperbaric exposures up to 6 bar of absolute pressure in man: effects on bubble formation and pulmonary function.

    Directory of Open Access Journals (Sweden)

    Jean-Eric Blatteau

    Full Text Available Recent advances in submarine rescue systems have allowed a transfer under pressure of crew members being rescued from a disabled submarine. The choice of a safe decompression procedure for pressurised rescuees has been previously discussed, but no schedule has been validated when the internal submarine pressure is significantly increased i.e. exceeding 2.8 bar absolute pressure. This study tested a saturation decompression procedure from hyperbaric exposures up to 6 bar, the maximum operating pressure of the NATO submarine rescue system. The objective was to investigate the incidence of decompression sickness (DCS and clinical and spirometric indices of pulmonary oxygen toxicity. Two groups were exposed to a Nitrogen-Oxygen atmosphere (pO2 = 0.5 bar at either 5 bar (N = 14 or 6 bar (N = 12 for 12 h followed by 56 h 40 min resp. 60 h of decompression. When chamber pressure reached 2.5 bar, the subjects breathed oxygen intermittently, otherwise compressed air. Repeated clinical examinations, ultrasound monitoring of venous gas embolism and spirometry were performed during decompression. During exposures to 5 bar, 3 subjects had minor subjective symptoms i.e. sensation of joint discomfort, regressing spontaneously, and after surfacing 2 subjects also experienced joint discomfort disappearing without treatment. Only 3 subjects had detectable intravascular bubbles during decompression (low grades. No bubbles were detected after surfacing. About 40% of subjects felt chest tightness when inspiring deeply during the initial phase of decompression. Precordial burning sensations were reported during oxygen periods. During decompression, vital capacity decreased by about 8% and forced expiratory flow rates decreased significantly. After surfacing, changes in the peripheral airways were still noticed; Lung Diffusion for carbon monoxide was slightly reduced by 1% while vital capacity was normalized. The procedure did not result in serious

  14. The need for a global robotic response to coal mine rescue

    Energy Technology Data Exchange (ETDEWEB)

    Dessureault, Sean

    2011-02-15

    The author writes about the the lack of effective robotic response specifically designed for mine rescue which would improve worker safety and diminish the risk of international embarrassment by governments and industry. An international consortium is needed in which the major coal mining countries and companies contribute to the development, deployment and maintenance of a global robotic coal mine rescue system. This robotic system should be designed to allow transportation, deployment and maintenance of a global robotic coal mine rescue, the author writes.

  15. Dispatching Plan Based on Route Optimization Model Considering Random Wind for Aviation Emergency Rescue

    OpenAIRE

    Ming Zhang; Hui Yu; Jue Yu; Yifan Zhang

    2016-01-01

    Aviation emergency rescue is an effective means of nature disaster relief that is widely used in many countries. The dispatching plan of aviation emergency rescue guarantees the efficient implementation of this relief measure. The conventional dispatching plan that does not consider random wind factors leads to a nonprecise quick-responsive scheme and serious safety issues. In this study, an aviation emergency rescue framework that considers the influence of random wind at flight trajectory i...

  16. Genetic basis and detection of unintended effects in genetically modified crop plants.

    Science.gov (United States)

    Ladics, Gregory S; Bartholomaeus, Andrew; Bregitzer, Phil; Doerrer, Nancy G; Gray, Alan; Holzhauser, Thomas; Jordan, Mark; Keese, Paul; Kok, Esther; Macdonald, Phil; Parrott, Wayne; Privalle, Laura; Raybould, Alan; Rhee, Seung Yon; Rice, Elena; Romeis, Jörg; Vaughn, Justin; Wal, Jean-Michel; Glenn, Kevin

    2015-08-01

    In January 2014, an international meeting sponsored by the International Life Sciences Institute/Health and Environmental Sciences Institute and the Canadian Food Inspection Agency titled "Genetic Basis of Unintended Effects in Modified Plants" was held in Ottawa, Canada, bringing together over 75 scientists from academia, government, and the agro-biotech industry. The objectives of the meeting were to explore current knowledge and identify areas requiring further study on unintended effects in plants and to discuss how this information can inform and improve genetically modified (GM) crop risk assessments. The meeting featured presentations on the molecular basis of plant genome variability in general, unintended changes at the molecular and phenotypic levels, and the development and use of hypothesis-driven evaluations of unintended effects in assessing conventional and GM crops. The development and role of emerging "omics" technologies in the assessment of unintended effects was also discussed. Several themes recurred in a number of talks; for example, a common observation was that no system for genetic modification, including conventional methods of plant breeding, is without unintended effects. Another common observation was that "unintended" does not necessarily mean "harmful". This paper summarizes key points from the information presented at the meeting to provide readers with current viewpoints on these topics.

  17. The RESCueH Programme

    DEFF Research Database (Denmark)

    Søgaard Nielsen, Anette; Nielsen, Bent; Andersen, Kjeld;

    2016-01-01

    Excessive alcohol consumption is one of the most important lifestyle factors affecting the disease burden in the Western world. The results of treatment in daily practice are modest at best. The aim of the RESCueH programme is to develop and evaluate methods, which are as practice-near as possible......, and therefore can be implemented quickly and easily in everyday clinical practice. It is the first clinical alcohol programme to be transatlantic in scope, with implementation in treatment centers located in Denmark, Germany and the US. The RESCueH programme comprises 5 randomized controlled trials......, and the studies can be expected to result in (1) more patients starting treatment in specialized outpatient clinics, (2) a greater number of elderly patients being treated, (3) increased patient motivation for treatment and thus improved adherence, (4) more patients with stable positive outcomes after treatment...

  18. GIS Support for Flood Rescue

    DEFF Research Database (Denmark)

    Liang, Gengsheng; Mioc, Darka; Anton, François

    2007-01-01

    Under flood events, the ground traffic is blocked in and around the flooded area due to damages to roads and bridges. The traditional transportation network may not always help people to make a right decision for evacuation. In order to provide dynamic road information needed for flood rescue, we...... developed an adaptive web-based transportation network application using Oracle technology. Moreover, the geographic relationships between the road network and flood areas are taken into account. The overlay between the road network and flood polygons is computed on the fly. This application allows users...... to retrieve the shortest and safest route in Fredericton road network during flood event. It enables users to make a timely decision for flood rescue. We are using Oracle Spatial to deal with emergency situations that can be applied to other constrained network applications as well....

  19. Eco-evolutionary feedbacks, adaptive dynamics and evolutionary rescue theory

    Science.gov (United States)

    Ferriere, Regis; Legendre, Stéphane

    2013-01-01

    Adaptive dynamics theory has been devised to account for feedbacks between ecological and evolutionary processes. Doing so opens new dimensions to and raises new challenges about evolutionary rescue. Adaptive dynamics theory predicts that successive trait substitutions driven by eco-evolutionary feedbacks can gradually erode population size or growth rate, thus potentially raising the extinction risk. Even a single trait substitution can suffice to degrade population viability drastically at once and cause ‘evolutionary suicide’. In a changing environment, a population may track a viable evolutionary attractor that leads to evolutionary suicide, a phenomenon called ‘evolutionary trapping’. Evolutionary trapping and suicide are commonly observed in adaptive dynamics models in which the smooth variation of traits causes catastrophic changes in ecological state. In the face of trapping and suicide, evolutionary rescue requires that the population overcome evolutionary threats generated by the adaptive process itself. Evolutionary repellors play an important role in determining how variation in environmental conditions correlates with the occurrence of evolutionary trapping and suicide, and what evolutionary pathways rescue may follow. In contrast with standard predictions of evolutionary rescue theory, low genetic variation may attenuate the threat of evolutionary suicide and small population sizes may facilitate escape from evolutionary traps. PMID:23209163

  20. Intracortical bone remodeling variation shows strong genetic effects.

    Science.gov (United States)

    Havill, L M; Allen, M R; Harris, J A K; Levine, S M; Coan, H B; Mahaney, M C; Nicolella, D P

    2013-11-01

    Intracortical microstructure influences crack propagation and arrest within bone cortex. Genetic variation in intracortical remodeling may contribute to mechanical integrity and, therefore, fracture risk. Our aim was to determine the degree to which normal population-level variation in intracortical microstructure is due to genetic variation. We examined right femurs from 101 baboons (74 females, 27 males; aged 7-33 years) from a single, extended pedigree to determine osteon number, osteon area (On.Ar), haversian canal area, osteon population density, percent osteonal bone (%On.B), wall thickness (W.Th), and cortical porosity (Ct.Po). Through evaluation of the covariance in intracortical properties between pairs of relatives, we quantified the contribution of additive genetic effects (heritability [h (2)]) to variation in these traits using a variance decomposition approach. Significant age and sex effects account for 9 % (Ct.Po) to 21 % (W.Th) of intracortical microstructural variation. After accounting for age and sex, significant genetic effects are evident for On.Ar (h (2) = 0.79, p = 0.002), %On.B (h (2) = 0.82, p = 0.003), and W.Th (h (2) = 0.61, p = 0.013), indicating that 61-82 % of the residual variation (after accounting for age and sex effects) is due to additive genetic effects. This corresponds to 48-75 % of the total phenotypic variance. Our results demonstrate that normal, population-level variation in cortical microstructure is significantly influenced by genes. As a critical mediator of crack behavior in bone cortex, intracortical microstructural variation provides another mechanism through which genetic variation may affect fracture risk.

  1. Vielbein to the Rescue?

    CERN Document Server

    de Rham, Claudia

    2015-01-01

    Non-minimal matter couplings have recently been considered in the context of massive gravity and multi-gravity. These couplings are free of the Boulware-Deser ghost in the decoupling limit and can thus be considered within an Effective Field Theory setup. Beyond the decoupling limit the ghost was shown to reemerge in the metric formulation of the theory. Recently it was argued that this pathology is absent when formulated in terms of unconstrained vielbeins. We investigate this possibility and show that the Boulware-Deser ghost is always present beyond the decoupling limit in any dimension larger than two. We also show that the metric and vielbein formulations have an identical ghost-free decoupling limit. Finally we extend these arguments to more generic multi-gravity theories and argue that for any dimension larger than two a ghost is also present in the vielbein formulation whenever the symmetric vielbein condition is spoiled and the equivalence with the metric formulation is lost.

  2. Twin and genetic effects on life events

    NARCIS (Netherlands)

    Middeldorp, C.M.; Cath, D.C.; Vink, J.M.; Boomsma, D.I.

    2005-01-01

    Twin studies that examine the effect of specific environmental risk factors on psychiatric disorders assume that there are no differences in prevalences of these risk factors between twins and singletons. Violation of this assumption signifies that the results from twin studies might not generalize

  3. Decision Making and Emergency Communication System in Rescue Simulation for People with Disabilities

    Directory of Open Access Journals (Sweden)

    Kohei Arai

    2013-03-01

    Full Text Available Decision making and emergency communication system play important roles in rescue process when emergency situations happen. The rescue process will be more effective if we have appropriate decision making method and accessible emergency communication system. In this paper, we propose a centralized rescue model for people with disabilities. The decision making method to decide which volunteers should help which disabled persons is proposed by utilizing the auction mechanism. The GIS data are used to present the objects in a large-scale disaster simulation environment such as roads, buildings, and humans. The Gama simulation platform is used to test our proposed rescue simulation model.

  4. Host genetic and environmental effects on mouse intestinal microbiota.

    Science.gov (United States)

    Campbell, James H; Foster, Carmen M; Vishnivetskaya, Tatiana; Campbell, Alisha G; Yang, Zamin K; Wymore, Ann; Palumbo, Anthony V; Chesler, Elissa J; Podar, Mircea

    2012-11-01

    The mammalian gut harbors complex and variable microbial communities, across both host phylogenetic space and conspecific individuals. A synergy of host genetic and environmental factors shape these communities and account for their variability, but their individual contributions and the selective pressures involved are still not well understood. We employed barcoded pyrosequencing of V1-2 and V4 regions of bacterial small subunit ribosomal RNA genes to characterize the effects of host genetics and environment on cecum assemblages in 10 genetically distinct, inbred mouse strains. Eight of these strains are the foundation of the Collaborative Cross (CC), a panel of mice derived from a genetically diverse set of inbred founder strains, designed specifically for complex trait analysis. Diversity of gut microbiota was characterized by complementing phylogenetic and distance-based, sequence-clustering approaches. Significant correlations were found between the mouse strains and their gut microbiota, reflected by distinct bacterial communities. Cohabitation and litter had a reduced, although detectable effect, and the microbiota response to these factors varied by strain. We identified bacterial phylotypes that appear to be discriminative and strain-specific to each mouse line used. Cohabitation of different strains of mice revealed an interaction of host genetic and environmental factors in shaping gut bacterial consortia, in which bacterial communities became more similar but retained strain specificity. This study provides a baseline analysis of intestinal bacterial communities in the eight CC progenitor strains and will be linked to integrated host genotype, phenotype and microbiota research on the resulting CC panel.

  5. Host Genetic and Environmental Effects on Mouse Cecum Microbiota

    Energy Technology Data Exchange (ETDEWEB)

    Campbell, James H [ORNL; Foster, Carmen M [ORNL; Vishnivetskaya, Tatiana A [ORNL; Campbell, Alisha G [ORNL; Yang, Zamin Koo [ORNL; Wymore, Ann [ORNL; Palumbo, Anthony Vito [ORNL; Podar, Mircea [ORNL

    2012-01-01

    The mammalian gut harbors complex and variable microbial communities, across both host phylogenetic space and conspecific individuals. A synergy of host genetic and environmental factors shape these communities and account for their variability, but their individual contributions and the selective pressures involved are still not well understood. We employed barcoded pyrosequencing of V1-2 and V4 regions of bacterial small subunit ribosomal RNA genes to characterize the effects of host genetics and environment on cecum assemblages in 10 genetically distinct, inbred mouse strains. Eight of these strains are the foundation of the Collaborative Cross (CC), a panel of mice derived from a genetically diverse set of inbred founder strains, designed specifically for complex trait analysis. Diversity of gut microbiota was characterized by complementing phylogenetic and distance-based, sequence-clustering approaches. Significant correlations were found between the mouse strains and their gut microbiota, reflected by distinct bacterial communities. Cohabitation and litter had a reduced, although detectable effect, and the microbiota response to these factors varied by strain. We identified bacterial phylotypes that appear to be discriminative and strain-specific to each mouse line used. Cohabitation of different strains of mice revealed an interaction of host genetic and environmental factors in shaping gut bacterial consortia, in which bacterial communities became more similar but retained strain specificity. This study provides a baseline analysis of intestinal bacterial communities in the eight CC progenitor strains and will be linked to integrated host genotype, phenotype and microbiota research on the resulting CC panel.

  6. Genetic effects and potential parents in cowpea

    Directory of Open Access Journals (Sweden)

    Francisco Tiago Cunha Dias

    2016-11-01

    Full Text Available Six cowpea genotypes and their F2 hybrid combinations were evaluated for general and specific combining ability. The Griffing’s diallel cross design, Method 2, and mixed model B were used. The genotypes and hybrids differed statistically (p <0.01 for the 10 studied traits. With regard to the general and specific combining ability, there were statistical differences at 1% probability for all traits. The presence of additive and non-additive gene effects paves the way for breeding new hybrid cultivars. However, additive gene effects were predominant in the trait expression. Genotypes CE-542, CE-954 and CE-796 were identified as the most promising of the test group for inclusion in cowpea breeding programs.

  7. Childhood socioeconomic status amplifies genetic effects on adult intelligence.

    Science.gov (United States)

    Bates, Timothy C; Lewis, Gary J; Weiss, Alexander

    2013-10-01

    Studies of intelligence in children reveal significantly higher heritability among groups with high socioeconomic status (SES) than among groups with low SES. These interaction effects, however, have not been examined in adults, when between-families environmental effects are reduced. Using 1,702 adult twins (aged 24-84) for whom intelligence assessment data were available, we tested for interactions between childhood SES and genetic effects, between-families environmental effects, and unique environmental effects. Higher SES was associated with higher mean intelligence scores. Moreover, the magnitude of genetic influences on intelligence was proportional to SES. By contrast, environmental influences were constant. These results suggest that rather than setting lower and upper bounds on intelligence, genes multiply environmental inputs that support intellectual growth. This mechanism implies that increasing SES may raise average intelligence but also magnifies individual differences in intelligence.

  8. Effect of Duplicate Genes on Mouse Genetic Robustness: An Update

    Directory of Open Access Journals (Sweden)

    Zhixi Su

    2014-01-01

    Full Text Available In contrast to S. cerevisiae and C. elegans, analyses based on the current knockout (KO mouse phenotypes led to the conclusion that duplicate genes had almost no role in mouse genetic robustness. It has been suggested that the bias of mouse KO database toward ancient duplicates may possibly cause this knockout duplicate puzzle, that is, a very similar proportion of essential genes (PE between duplicate genes and singletons. In this paper, we conducted an extensive and careful analysis for the mouse KO phenotype data and corroborated a strong effect of duplicate genes on mouse genetics robustness. Moreover, the effect of duplicate genes on mouse genetic robustness is duplication-age dependent, which holds after ruling out the potential confounding effect from coding-sequence conservation, protein-protein connectivity, functional bias, or the bias of duplicates generated by whole genome duplication (WGD. Our findings suggest that two factors, the sampling bias toward ancient duplicates and very ancient duplicates with a proportion of essential genes higher than that of singletons, have caused the mouse knockout duplicate puzzle; meanwhile, the effect of genetic buffering may be correlated with sequence conservation as well as protein-protein interactivity.

  9. Genetic and somatic effects in animals maintained on tritiated water

    Energy Technology Data Exchange (ETDEWEB)

    Carsten, A.L.; Brooks, A.; Commerford, S.L.; Cronkite, E.P.

    1981-01-01

    The possible genetic (dominant lethal mutations (DLM) and cytogenetic changes in the regenerating liver) and somatic (hematopoietic stem cell changes, growth and nonspecific life time shortening) effects in mice maintained on tritiated water (HTO) over two generations was investigated. Results to date are summarized. (ACR)

  10. Genetic oscillations. A Doppler effect in embryonic pattern formation.

    Science.gov (United States)

    Soroldoni, Daniele; Jörg, David J; Morelli, Luis G; Richmond, David L; Schindelin, Johannes; Jülicher, Frank; Oates, Andrew C

    2014-07-11

    During embryonic development, temporal and spatial cues are coordinated to generate a segmented body axis. In sequentially segmenting animals, the rhythm of segmentation is reported to be controlled by the time scale of genetic oscillations that periodically trigger new segment formation. However, we present real-time measurements of genetic oscillations in zebrafish embryos showing that their time scale is not sufficient to explain the temporal period of segmentation. A second time scale, the rate of tissue shortening, contributes to the period of segmentation through a Doppler effect. This contribution is modulated by a gradual change in the oscillation profile across the tissue. We conclude that the rhythm of segmentation is an emergent property controlled by the time scale of genetic oscillations, the change of oscillation profile, and tissue shortening.

  11. Genetic and non-genetic indirect effects for harvest weight in the GIFT strain of Nile tilapia (Oreochromis niloticus)

    NARCIS (Netherlands)

    Khaw, H.L.; Ponzoni, R.W.; Yee, H.Y.; Aziz, M.A.; Bijma, P.

    2016-01-01

    Trait values of individuals are affected not only by their genetic makeup, but also by environmental factors and interactions with other individuals. The heritable effect of an individual on the trait values of other individuals it interacts with is known as an indirect genetic effect (IGE). Such IG

  12. Unintended effects in genetically modified crops: revealed by metabolomics?

    Science.gov (United States)

    Rischer, Heiko; Oksman-Caldentey, Kirsi-Marja

    2006-03-01

    In Europe the commercialization of food derived from genetically modified plants has been slow because of the complex regulatory process and the concerns of consumers. Risk assessment is focused on potential adverse effects on humans and the environment, which could result from unintended effects of genetic modifications: unintended effects are connected to changes in metabolite levels in the plants. One of the major challenges is how to analyze the overall metabolite composition of GM plants in comparison to conventional cultivars, and one possible solution is offered by metabolomics. The ultimate aim of metabolomics is the identification and quantification of all small molecules in an organism; however, a single method enabling complete metabolome analysis does not exist. Given a comprehensive extraction method, a hierarchical strategy--starting with global fingerprinting and followed by complementary profiling attempts--is the most logical and economic approach to detect unintended effects in GM crops.

  13. Brazilian rescue plan sparks surprise

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    According to Financial Times,when Guido Mantega,Brazil's finance minister,suddenly proposed a “Bric” rescue package for the eurozone this week,he caught not only other world leaders by surprise but also many of his fellow countrymen.Even as officials from other members of the so-called Bric grouping,Russia,India and China,said it was the first they heard of the idea,many ordinary Brazilians expressed shock at the notion of bailing out the world's richest trading bloc.

  14. The Data Rescue @ Home Project

    Science.gov (United States)

    Stickler, A.; Allan, R.; Valente, M. A.; Tinz, B.; Brönnimann, S.

    2012-04-01

    Climate science as a whole as well as reanalyses as a special case can significantly profit from the recovery, imaging and digitisation of historical observations. The importance of this fact is reflected in large, global data rescue projects and initiatives such as the Atmospheric Circulation Reconstructions over the Earth (ACRE, www.met-acre.org) or the EU FP7 ERA-CLIM project (www.era-clim.eu). From the time before 1957, there are still large amounts of surface data e.g. from former colonies and from overseas territories of European countries )e.g. Portugal, France and Germany) that need to be rescued. Also in case of the very early upper-air observations before the 1930s, even Europe and North America still hold an important quantity of data to be recovered in digital form. Here, we present the web platform "Data Rescue @ Home" (www.data-rescue-at-home.org), which has been developed at ETH Zurich and Oeschger Centre for Climate Change Research, and which has been designed to take advantage of the voluntary assistance of the thousands of people on the web who are interested in climate or old weather data. On the website, these volunteers can enter meteorological data shown on digital images into entry masks that resemble the original. By registering, the users get access to their personal digitisation statistics and help optimising the project. At the moment, 4 digitisation projects are online: One project is dealing with German upper-air data from the Second World War period. In a second project, station data from Tulagi (Solomon Islands) is being digitised. Finally, two collaborative projects have been included: One in cooperation with the Instituto Dom Luiz (Univ. Lisbon, Portugal), where Portuguese station data from Angra (Azores) is digitised, and a further one in cooperation with the German Meteorological Service (DWD), in which precipitation data from former German colonies is being digitised. On our poster, we will report on the status of the projects

  15. 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...

  16. Structures of oncogenic, suppressor and rescued p53 core-domain variants: mechanisms of mutant p53 rescue

    Energy Technology Data Exchange (ETDEWEB)

    Wallentine, Brad D.; Wang, Ying; Tretyachenko-Ladokhina, Vira; Tan, Martha; Senear, Donald F. [University of California, Irvine, Irvine, CA 92697 (United States); Luecke, Hartmut, E-mail: hudel@uci.edu [University of California, Irvine, Irvine, CA 92697 (United States); University of California, Irvine, Irvine, CA 92697 (United States); University of California, Irvine, Irvine, CA 92697 (United States); University of California, Irvine, Irvine, CA 92697 (United States); Universidad del Pais Vasco, 48940 Leioa (Spain)

    2013-10-01

    X-ray crystallographic structures of four p53 core-domain variants were determined in order to gain insights into the mechanisms by which certain second-site suppressor mutations rescue the function of a significant number of cancer mutations of the tumor suppressor protein p53. To gain insights into the mechanisms by which certain second-site suppressor mutations rescue the function of a significant number of cancer mutations of the tumor suppressor protein p53, X-ray crystallographic structures of four p53 core-domain variants were determined. These include an oncogenic mutant, V157F, two single-site suppressor mutants, N235K and N239Y, and the rescued cancer mutant V157F/N235K/N239Y. The V157F mutation substitutes a smaller hydrophobic valine with a larger hydrophobic phenylalanine within strand S4 of the hydrophobic core. The structure of this cancer mutant shows no gross structural changes in the overall fold of the p53 core domain, only minor rearrangements of side chains within the hydrophobic core of the protein. Based on biochemical analysis, these small local perturbations induce instability in the protein, increasing the free energy by 3.6 kcal mol{sup −1} (15.1 kJ mol{sup −1}). Further biochemical evidence shows that each suppressor mutation, N235K or N239Y, acts individually to restore thermodynamic stability to V157F and that both together are more effective than either alone. All rescued mutants were found to have wild-type DNA-binding activity when assessed at a permissive temperature, thus pointing to thermodynamic stability as the critical underlying variable. Interestingly, thermodynamic analysis shows that while N239Y demonstrates stabilization of the wild-type p53 core domain, N235K does not. These observations suggest distinct structural mechanisms of rescue. A new salt bridge between Lys235 and Glu198, found in both the N235K and rescued cancer mutant structures, suggests a rescue mechanism that relies on stabilizing the

  17. Using human genetics to predict the effects and side-effects of drugs

    DEFF Research Database (Denmark)

    Stender, Stefan; Tybjærg-Hansen, Anne

    2016-01-01

    PURPOSE OF REVIEW: 'Genetic proxies' are increasingly being used to predict the effects of drugs. We present an up-to-date overview of the use of human genetics to predict effects and adverse effects of lipid-targeting drugs. RECENT FINDINGS: LDL cholesterol lowering variants in HMG...... that inhibit these targets. Both mutations in PCSK9 and PCSK9-inhibition seem without adverse effects. Mutations in APOC3 cause low triglycerides and protect against IHD, and recent pharmacological APOC3-inhibition reported major reductions in plasma triglycerides. Human genetics support that low lipoprotein......(a) protects against IHD, without adverse effects, and the first trial of lipoprotein(a) inhibition reduced lipoprotein(a) up to 78%. SUMMARY: Recent genetic studies have confirmed the efficacy of statins and ezetimibe in protecting against IHD. Results from human genetics support that several lipid...

  18. Business rescue decision making through verifier determinants – ask the specialists

    Directory of Open Access Journals (Sweden)

    Marius Pretorius

    2013-11-01

    Practical/Managerial implications: Decision makers and affected persons could benefit from the insights obtained through this study. Confirming early warning signs through verifier determinants would be beneficial for entrepreneurs who are creditors, rescue practitioners, government regulators, court officials and educators alike. Contribution/Value add: Knowing the verifier determinants could assist decision making and improve the effectiveness of rescue strategies.

  19. Human Detection and Classification of Landing Sites for Search and Rescue Drones

    NARCIS (Netherlands)

    N. Martins, Felipe; de Groot, Marc; Stokkel, Xeryus; Wiering, Marco

    2016-01-01

    Search and rescue is often time and labour intensive. We present a system to be used in drones to make search and rescue operations more effective. The system uses a drone downward facing camera to detect people and to evaluate potential sites as being safe or not for the drone to land. Histogram of

  20. Host genetics and population structure effects on parasitic disease.

    Science.gov (United States)

    Williams-Blangero, Sarah; Criscione, Charles D; VandeBerg, John L; Correa-Oliveira, Rodrigo; Williams, Kimberly D; Subedi, Janardan; Kent, Jack W; Williams, Jeff; Kumar, Satish; Blangero, John

    2012-03-19

    Host genetic factors exert significant influences on differential susceptibility to many infectious diseases. In addition, population structure of both host and parasite may influence disease distribution patterns. In this study, we assess the effects of population structure on infectious disease in two populations in which host genetic factors influencing susceptibility to parasitic disease have been extensively studied. The first population is the Jirel population of eastern Nepal that has been the subject of research on the determinants of differential susceptibility to soil-transmitted helminth infections. The second group is a Brazilian population residing in an area endemic for Trypanosoma cruzi infection that has been assessed for genetic influences on differential disease progression in Chagas disease. For measures of Ascaris worm burden, within-population host genetic effects are generally more important than host population structure factors in determining patterns of infectious disease. No significant influences of population structure on measures associated with progression of cardiac disease in individuals who were seropositive for T. cruzi infection were found.

  1. Genetics in endocrinology: genetic variation in deiodinases: a systematic review of potential clinical effects in humans.

    Science.gov (United States)

    Verloop, Herman; Dekkers, Olaf M; Peeters, Robin P; Schoones, Jan W; Smit, Johannes W A

    2014-09-01

    Iodothyronine deiodinases represent a family of selenoproteins involved in peripheral and local homeostasis of thyroid hormone action. Deiodinases are expressed in multiple organs and thyroid hormone affects numerous biological systems, thus genetic variation in deiodinases may affect multiple clinical endpoints. Interest in clinical effects of genetic variation in deiodinases has clearly increased. We aimed to provide an overview for the role of deiodinase polymorphisms in human physiology and morbidity. In this systematic review, studies evaluating the relationship between deiodinase polymorphisms and clinical parameters in humans were eligible. No restrictions on publication date were imposed. The following databases were searched up to August 2013: Pubmed, EMBASE (OVID-version), Web of Science, COCHRANE Library, CINAHL (EbscoHOST-version), Academic Search Premier (EbscoHOST-version), and ScienceDirect. Deiodinase physiology at molecular and tissue level is described, and finally the role of these polymorphisms in pathophysiological conditions is reviewed. Deiodinase type 1 (D1) polymorphisms particularly show moderate-to-strong relationships with thyroid hormone parameters, IGF1 production, and risk for depression. D2 variants correlate with thyroid hormone levels, insulin resistance, bipolar mood disorder, psychological well-being, mental retardation, hypertension, and risk for osteoarthritis. D3 polymorphisms showed no relationship with inter-individual variation in serum thyroid hormone parameters. One D3 polymorphism was associated with risk for osteoarthritis. Genetic deiodinase profiles only explain a small proportion of inter-individual variations in serum thyroid hormone levels. Evidence suggests a role of genetic deiodinase variants in certain pathophysiological conditions. The value for determination of deiodinase polymorphism in clinical practice needs further investigation. © 2014 European Society of Endocrinology.

  2. Advances in Search and Rescue at Sea

    CERN Document Server

    Breivik, Øyvind; Maisondieu, Christophe; Olagnon, Michel

    2012-01-01

    A topical collection on "Advances in Search and Rescue at Sea" has appeared in recent issues of Ocean Dynamics following the latest in a series of workshops on "Technologies for Search and Rescue and other Emergency Marine Operations" (2004, 2006, 2008 and 2011), hosted by IFREMER in Brest, France. Here we give a brief overview of the history of search and rescue at sea before we summarize the main results of the papers that have appeared in the topical collection. Keywords: Search and rescue (SAR), Trajectory modelling, Stochastic Lagrangian ocean models, Lagrangian measurement methods, ocean surface currents.

  3. Location awareness in a mountain rescue domain

    OpenAIRE

    2007-01-01

    The notion of location awareness in a Mountain Rescue domain is critical for the mission coordinator of a Mountain Rescue Team who tries to organize the team and make informed decisions for all its members. The knowledge of location of each member of the team while they are on a mission, could be provided by sending GPS coordinates from a device that each rescue worker would carry, to the server of the team located at its headquarters. The physical characteristics of the Mountain Rescue domai...

  4. Phaseolus immature embryo rescue technology.

    Science.gov (United States)

    Geerts, Pascal; Toussaint, André; Mergeai, Guy; Baudoin, Jean-Pierre

    2011-01-01

    Predominant among the production constraints of the common bean Phaseolus vulgaris are infestation of Ascochyta blight, Bean Golden Mosaic virus (BGMV), and Bean Fly. Interbreeding with Phaseolus -coccineus L. and/or Phaseolus polyanthus Greenm has been shown to provide P. vulgaris with greater resistance to these diseases. For interspecific crosses to be successful, it is important to use P. coccineus and P. polyanthus as female parents; this prevents rapid reversal to the recurrent parent P. vulgaris. Although incompatibility barriers are post-zygotic, early hybrid embryo abortion limits the success of F1 crosses. While rescue techniques for globular and early heart-shaped embryos have improved in recent years, -success in hybridization remains very low. In this study, we describe six steps that allowed us to rescue 2-day-old P. vulgaris embryos using a pod culture technique. Our methods consisted of (i) pod culture, (ii) extraction and culture of immature embryos, (iii) dehydration of embryos, (iv) germination of embryos, (v) rooting of developed shoots, and (vi) hardening of plantlets.

  5. Search and Rescue. Auxiliary Operational Specialty Course. Student Text.

    Science.gov (United States)

    Coast Guard, Washington, DC.

    This text, based on the National Search and Rescue (SAR) Plan, was prepared to provide a course of study on common procedures for SAR operations so that any basically qualified person in the U.S. Coast Guard Auxiliary can effectively accomplish a SAR mission and act as on-scene commander if required. There are 13 chapters: Introduction to Search…

  6. Modulation of Rho GTPases rescues brain mitochondrial dysfunction, cognitive deficits and aberrant synaptic plasticity in female mice modeling Rett syndrome.

    Science.gov (United States)

    De Filippis, Bianca; Valenti, Daniela; Chiodi, Valentina; Ferrante, Antonella; de Bari, Lidia; Fiorentini, Carla; Domenici, Maria Rosaria; Ricceri, Laura; Vacca, Rosa Anna; Fabbri, Alessia; Laviola, Giovanni

    2015-06-01

    Rho GTPases are molecules critically involved in neuronal plasticity and cognition. We have previously reported that modulation of brain Rho GTPases by the bacterial toxin CNF1 rescues the neurobehavioral phenotype in MeCP2-308 male mice, a model of Rett syndrome (RTT). RTT is a rare X-linked neurodevelopmental disorder and a genetic cause of intellectual disability, for which no effective therapy is available. Mitochondrial dysfunction has been proposed to be involved in the mechanism of the disease pathogenesis. Here we demonstrate that modulation of Rho GTPases by CNF1 rescues the reduced mitochondrial ATP production via oxidative phosphorylation in the brain of MeCP2-308 heterozygous female mice, the condition which more closely recapitulates that of RTT patients. In RTT mouse brain, CNF1 also restores the alterations in the activity of the mitochondrial respiratory chain (MRC) complexes and of ATP synthase, the molecular machinery responsible for the majority of cell energy production. Such effects were achieved through the upregulation of the protein content of those MRC complexes subunits, which were defective in RTT mouse brain. Restored mitochondrial functionality was accompanied by the rescue of deficits in cognitive function (spatial reference memory in the Barnes maze), synaptic plasticity (long-term potentiation) and Tyr1472 phosphorylation of GluN2B, which was abnormally enhanced in the hippocampus of RTT mice. Present findings bring into light previously unknown functional mitochondrial alterations in the brain of female mice modeling RTT and provide the first evidence that RTT brain mitochondrial dysfunction can be rescued by modulation of Rho GTPases.

  7. TILLING is an effective reverse genetics technique for Caenorhabditis elegans

    Directory of Open Access Journals (Sweden)

    Zetka Monique C

    2006-10-01

    Full Text Available Abstract Background TILLING (Targeting Induced Local Lesions in Genomes is a reverse genetic technique based on the use of a mismatch-specific enzyme that identifies mutations in a target gene through heteroduplex analysis. We tested this technique in Caenorhabditis elegans, a model organism in which genomics tools have been well developed, but limitations in reverse genetics have restricted the number of heritable mutations that have been identified. Results To determine whether TILLING represents an effective reverse genetic strategy for C. elegans we generated an EMS-mutagenised population of approximately 1500 individuals and screened for mutations in 10 genes. A total of 71 mutations were identified by TILLING, providing multiple mutant alleles for every gene tested. Some of the mutations identified are predicted to be silent, either because they are in non-coding DNA or because they affect the third bp of a codon which does not change the amino acid encoded by that codon. However, 59% of the mutations identified are missense alleles resulting in a change in one of the amino acids in the protein product of the gene, and 3% are putative null alleles which are predicted to eliminate gene function. We compared the types of mutation identified by TILLING with those previously reported from forward EMS screens and found that 96% of TILLING mutations were G/C-to-A/T transitions, a rate significantly higher than that found in forward genetic screens where transversions and deletions were also observed. The mutation rate we achieved was 1/293 kb, which is comparable to the mutation rate observed for TILLING in other organisms. Conclusion We conclude that TILLING is an effective and cost-efficient reverse genetics tool in C. elegans. It complements other reverse genetic techniques in this organism, can provide an allelic series of mutations for any locus and does not appear to have any bias in terms of gene size or location. For eight of the 10

  8. Cohort Effects in the Genetic Influence on Smoking.

    Science.gov (United States)

    Domingue, Benjamin W; Conley, Dalton; Fletcher, Jason; Boardman, Jason D

    2016-01-01

    We examine the hypothesis that the heritability of smoking has varied over the course of recent history as a function of associated changes in the composition of the smoking and non-smoking populations. Classical twin-based heritability analysis has suggested that genetic basis of smoking has increased as the information about the harms of tobacco has become more prevalent-particularly after the issuance of the 1964 Surgeon General's Report. In the present paper we deploy alternative methods to test this claim. We use data from the Health and Retirement Study to estimate cohort differences in the genetic influence on smoking using both genomic-relatedness-matrix restricted maximum likelihood and a modified DeFries-Fulker approach. We perform a similar exercise deploying a polygenic score for smoking using results generated by the Tobacco and Genetics consortium. The results support earlier claims that the genetic influence in smoking behavior has increased over time. Emphasizing historical periods and birth cohorts as environmental factors has benefits over existing GxE research. Our results provide additional support for the idea that anti-smoking policies of the 1980s may not be as effective because of the increasingly important role of genotype as a determinant of smoking status.

  9. The Effects of Meiosis/Genetics Integration and Instructional Sequence on College Biology Student Achievement in Genetics.

    Science.gov (United States)

    Browning, Mark

    The purpose of the research was to manipulate two aspects of genetics instruction in order to measure their effects on college, introductory biology students' achievement in genetics. One instructional sequence that was used dealt first with monohybrid autosomal inheritance patterns, then sex-linkage. The alternate sequence was the reverse.…

  10. 30 CFR 49.18 - Training for mine rescue teams.

    Science.gov (United States)

    2010-07-01

    ... 30 Mineral Resources 1 2010-07-01 2010-07-01 false Training for mine rescue teams. 49.18 Section... TRAINING MINE RESCUE TEAMS Mine Rescue Teams for Underground Coal Mines § 49.18 Training for mine rescue teams. (a) Prior to serving on a mine rescue team each member shall complete, at a minimum, an...

  11. Models of genetic counseling and their effects on multicultural genetic counseling.

    Science.gov (United States)

    Lewis, Linwood J

    2002-06-01

    This theoretical paper examines challenges to multicultural genetic counseling, counseling between culturally different clients and counselors, in the context of Kessler's typology of models of genetic counseling (Kessler S (1997) J Genet Counsel 6:287-295). It is suggested that challenges such as resistance to multicultural genetic counseling education may be due to conceptions about genetic counseling as a biomedical field that transcends questions of culture as well as lack of multicultural training or prejudice. Directions for future research and recommendations for multicultural genetic counseling education are briefly explored.

  12. Effects of Different Prehospital Emergency Rescuing Training Programs for Community Service Personal%不同院前急救培训方案对社区服务人员的培训效果

    Institute of Scientific and Technical Information of China (English)

    蒲晓煜; 席淑华

    2011-01-01

    Objective To probe into the optimal method for popularizing prehospital emergency rescuing training program for community service personal. Methods The convenience sampling method was used to select 91 community service providers from two communities of Laoximen and the Bound. All the participants were randomized into three groups for prehospital emergency rescuing training. The training effects were evaluated using the Red Cross's theory and skills assessment tools before the training,immediately after the training,one month after the training and three months after the training seperately. Results No significant difference was observed on the general condition among the three groups before the training (P>0.05). After the training, significant differences were observed on all the rest items(P<0.05). Conclusion The prehospital emergency rescuing training is popularized using the optimal training method and the pragmatic concept. The training effects can be enhanced by re-establishing the training time.%目的 探讨普及社区服务人员院前急救培训的最佳方法.方法 采用方便抽样的方法 选取了上海市老西门、外滩两个社区的91名社区服务人员,按随机数字表法将其分配到3个培训模式组中进行院前急救培训.采用红十字会的理论和技能评估工具在培训前、培训后即刻、培训后1个月、培训后3个月对3组学员的培训效果进行评估.结果 3组社区服务人员在培训前的一般情况没有统计学差异(P>0.05).培训后,3组人员在各评估项目上的差异均有统计学意义(均P<0.05).结论 利用最佳培训方式,注重实效,普及院前急救培训;确立再培训时间,可增强培训效果.

  13. Rescue coronary stenting in acute myocardial infarction

    Science.gov (United States)

    Barbieri, Enrico; Meneghetti, Paolo; Molinari, Gionata; Zardini, Piero

    1996-01-01

    Failed rescue coronary angioplasty is a high risk situation because of high mortality. Coronary stent has given us the chance of improving and maintaining the patency of the artery. We report our preliminary experience of rescue stenting after unsuccessful coronary angioplasty.

  14. Fire Service Training. Rescue Practices. (Revised).

    Science.gov (United States)

    North Carolina State Dept. of Community Colleges, Raleigh.

    One of a set of fourteen instructional outlines for use in a course to train novice firemen, this guide covers the topic of rescue operations. Two types of rescue functions are recognized: the primary one consists of locating and saving trapped victims, and the secondary one of recovering bodies and making the area safe for other workers and…

  15. Environment Changes Genetic Effects on Respiratory Conditions and Allergic Phenotypes

    DEFF Research Database (Denmark)

    Song, Yong; Schwager, Michelle J; Backer, Vibeke

    2017-01-01

    separated population. We evaluated 18 single nucleotide polymorphisms (SNPs) corresponding to 8 genes (ADAM33, ALOX5, LT-α, LTC4S, NOS1, ORMDL3, TBXA2R and TNF-α), the lung function and five respiratory/allergic conditions (ever asthma, bronchitis, rhinitis, dermatitis and atopy) in two populations of Inuit...... associated with bronchitis risk. LT-α SNP rs2844484 was related to dermatitis susceptibility and was significantly influenced by the place of residence. The observed gene-phenotype relationships were exclusively present in one population and absent in the other population. We conclude that the genotype......-phenotype associations relating to bronchitis and allergy susceptibility are dependent on the environment and that environmental factors/lifestyles modify genetic predisposition and change the genetic effects on diseases....

  16. Genetic differential susceptibility to the effects of parenting.

    Science.gov (United States)

    Belsky, Jay; van IJzendoorn, Marinus H

    2017-06-01

    Intervention efforts aimed at remediating or preventing problems in children typically prove only moderately effective due to substantial heterogeneity in their efficacy. It thus becomes important to account for such variation in intervention efficacy. Here we summarize illustrative evidence that, due to their genetic make-up, some children benefit more from interventions targeting parenting than do others. Whereas some work documents the role of single, 'candidate' genes, other work reveals the utility of compositing multiple genes and genetic pathways. Collectively, this research extends prior observational work indicating that children most negatively affected by adverse experiences also benefit the most from supportive ones, while underscoring the need for research illuminating underlying neurobiological mechanisms that instantiate differential susceptibility to environmental influences. Copyright © 2017 Elsevier Ltd. All rights reserved.

  17. Effects of Genetic Drift and Gene Flow on the Selective Maintenance of Genetic Variation

    OpenAIRE

    Star, Bastiaan; Spencer, Hamish G.

    2013-01-01

    Explanations for the genetic variation ubiquitous in natural populations are often classified by the population–genetic processes they emphasize: natural selection or mutation and genetic drift. Here we investigate models that incorporate all three processes in a spatially structured population, using what we call a construction approach, simulating finite populations under selection that are bombarded with a steady stream of novel mutations. As expected, the amount of genetic variation compa...

  18. Effects of behavioral skill training on prognosis of stray rescue patients with mental illness%行为技能训练对流浪救助精神病患者预后的影响

    Institute of Scientific and Technical Information of China (English)

    肖媛媛

    2015-01-01

    Objective:To explore effects of behavioral skill training on prognosis of stray rescue patients with mental illness. Methods:64 cases of stray rescue mental patients were randomly divided into behavioral skill training intervention group ( observation group) and psychiatric routine nursing group ( control group) . They were assessed with the nursesˊobservation scale for inpatient eval-uation ( NOSIE) at admission and discharging, and the prognosis of the two groups were compared. Results:When the patients were discharged, each factor of the two groups had been improved; we found that the improvement in observation group was significantly higher than that of control group, and the difference was statistically significant (P<0. 05). Conclusions:The behavior skills training for the stray rescue mental patients can significantly improve the self-care ability, improve the quality of life, and positively promote the full recovery of the patients.%目的::探讨行为技能训练对流浪救助精神病患者预后的影响。方法:对收住院的流浪救助精神病患者64例,随机进行分组,行为技能训练干预组(观察组)与精神科常规方案护理组(对照组)。患者入院及出院时分别评定护士用住院观察量表( NOSIE),比较两者预后。结果:出院时两组患者各因子都有改善,观察组患者改善程度显著高于对照组,差异有统计学意义(P<0.05)。结论:针对流浪救助精神病患者开展行为技能训练,能显著改善患者的生活自理能力,提高患者的生活质量,对患者的全面康复有积极的促进作用。

  19. Sociable swine : indirect genetic effects on growth rate and their effect on behaviour and production of pigs in different environments

    NARCIS (Netherlands)

    Camerlink, I.

    2014-01-01

    Social interactions between pigs can influence their health, welfare, and productivity. The effects of social interactions on individuals are partly genetic, and this genetic effect is known as an Indirect Genetic Effect. IGEs are thus the heritable effects of an individual on the trait values of it

  20. Efficient transgenesis mediated by pigmentation rescue in zebrafish.

    Science.gov (United States)

    Harrold, Itrat; Carbonneau, Seth; Moore, Bethany M; Nguyen, Gina; Anderson, Nicole M; Saini, Amandeep S; Kanki, John P; Jette, Cicely A; Feng, Hui

    2016-01-01

    The zebrafish represents a revolutionary tool in large-scale genetic and small-molecule screens for gene and drug discovery. Transgenic zebrafish are often utilized in these screens. Many transgenic fish lines are maintained in the heterozygous state due to the lethality associated with homozygosity; thus, their progeny must be sorted to ensure a population expressing the transgene of interest for use in screens. Sorting transgenic embryos under a fluorescence microscope is very labor-intensive and demands fine-tuned motor skills. Here we report an efficient transgenic method of utilizing pigmentation rescue of nacre mutant fish for accurate naked-eye identification of both mosaic founders and stable transgenic zebrafish. This was accomplished by co-injecting two constructs with the I-SceI meganuclease enzyme into pigmentless nacre embryos: I-SceI-mitfa:mitfa-I-SceI to rescue the pigmentation and I-SceI-zpromoter:gene-of-interest-I-SceI to express the gene of interest under a zebrafish promoter (zpromoter). Pigmentation rescue reliably predicted transgene integration. Compared with other transgenic techniques, our approach significantly increases the overall percentage of founders and facilitates accurate naked-eye identification of stable transgenic fish, greatly reducing laborious fluorescence microscope sorting and PCR genotyping. Thus, this approach is ideal for generating transgenic fish for large-scale screens.

  1. Observation Prognosis and Effect of Shenfu Injection Combine With Dopamine in Rescue Patients With Shock%参附注射液联合多巴胺抢救休克患者疗效及预后观察

    Institute of Scientific and Technical Information of China (English)

    焦鹏

    2015-01-01

    Objective Observation of Shenfu injection combined effect of dopamine rescue shock therapy and prognosis of patients.Methods Selected 104 patients with rescue shock phenomenon from October 2013 to December 2014 in our hospital, randomly divided into two groups, each group had 52 cases. The control group were given conventional western medicine treatment, in the treatment group patients based on the control group using of shenfu injection combined with dopamine rescue. The two groups were observed therapeutic effects and blood pressure before and after treatment.Results The observation group treated with a cure rate of 38.89% was higher than the control group 22.22%,P0.05, had no difference statistically signiifcance, after treatment, blood pressure treatment group was better than the control group,P<0.05, had difference statistically significance.ConclusionUsing the rescue shock patient shenfu treatment associated with dopamine, which can effectively alleviate the patient's condition, improve blood pressure, heart rate, urine output and improve the quality of life of patients with high clinical value.%目的:观察参附注射液联合多巴胺抢救休克患者的疗效及预后效果。方法选取2013年10月~2014年12月我院抢救休克现象患者108例,随机将其分成两组,每组52例。对照组给予常规西医对症治疗,治疗组在对照组治疗基础上加用参附注射液联合多巴胺抢救。观察两组患者的治疗效果,治疗前后血压情况。结果治疗组患者的治愈率为38.89%,高于对照组的22.22%,P<0.05,差异具有统计学意义,但两组患者的治疗总有效率对比,P>0.05,差异不具有统计学意义;治疗后,治疗组血压优于对照组患者,P<0.05,差异具有统计学意义。结论在抢救休克患者时采用参附注射液联合多巴胺治疗效果明显,能有效的缓解患者病情,改善血压、心率、尿量,提高患者生活质量。

  2. The Semiosis of "Side Effects" in Genetic Interventions.

    Science.gov (United States)

    Affifi, Ramsey

    2016-01-01

    Genetic interventions, which include transgenic engineering, gene editing, and other forms of genome modification aimed at altering the information "in" the genetic code, are rapidly increasing in power and scale. Biosemiotics offers unique tools for understanding the nature, risks, scope, and prospects of such technologies, though few in the community have turned their attention specifically in this direction. Bruni (2003, 2008) is an important exception. In this paper, I examine how we frame the concept of "side effects" that result from genetic interventions and how the concept stands up to current perspectives of the role of organism activity in development. I propose that once the role of living systems in constructing and modifying the informational value of their various developmental resources is taken into account, the concept of a "side effect" will need to be significantly revised. Far from merely a disturbance brought about in a senseless albeit complex system, a biosemiotic view would take "side effects" as at least sometimes the organism's active re-organization in order to accommodate or make use of novelty. This insight is nascent in the work of developmental plasticity and niche construction theory (West-Eberhard 2003; Odling-Smee et al. 2003), but it is brought into sharper focus by the explicitly interpretive perspective offered by biosemiotics. Understanding the "side effects" of genetic interventions depends in part on being able to articulate when and where unexpected consequences are a result of semiotic activity at various levels within the system. While a semiotic interpretation of "side effects" puts into question the naive attitude that would see all unintended side effects as indications of disturbance in system functionality, it certainly does not imply that such side effects are of no concern for the viability of the organisms in the system. As we shall see, the fact that such interventions do not respect the translation of information

  3. Self Rescue Model-SeReMo-A model to determine the effects of human behaviour and safety measures on the consequences of a hazardous material release-development of the new triage injury model and self-rescue for fire and explosion accidents

    NARCIS (Netherlands)

    Trijssenaar, I.J.M.; Horst, M.J. van der; Simons, M.; Sterkenburg, R.P.

    2014-01-01

    Human behaviour during a large-scale hazardous material release can make the difference between life, serious injury and death. People may decide to investigate what is going on or to take shelter, while a toxic or flammable cloud is being released. The Self Rescue Model (SeReMo) has been developed

  4. Indirect evolutionary rescue: prey adapts, predator avoids extinction.

    Science.gov (United States)

    Yamamichi, Masato; Miner, Brooks E

    2015-09-01

    Recent studies have increasingly recognized evolutionary rescue (adaptive evolution that prevents extinction following environmental change) as an important process in evolutionary biology and conservation science. Researchers have concentrated on single species living in isolation, but populations in nature exist within communities of interacting species, so evolutionary rescue should also be investigated in a multispecies context. We argue that the persistence or extinction of a focal species can be determined solely by evolutionary change in an interacting species. We demonstrate that prey adaptive evolution can prevent predator extinction in two-species predator-prey models, and we derive the conditions under which this indirect evolutionary interaction is essential to prevent extinction following environmental change. A nonevolving predator can be rescued from extinction by adaptive evolution of its prey due to a trade-off for the prey between defense against predation and population growth rate. As prey typically have larger populations and shorter generations than their predators, prey evolution can be rapid and have profound effects on predator population dynamics. We suggest that this process, which we term 'indirect evolutionary rescue', has the potential to be critically important to the ecological and evolutionary responses of populations and communities to dramatic environmental change.

  5. Inferring modulators of genetic interactions with epistatic nested effects models.

    Science.gov (United States)

    Pirkl, Martin; Diekmann, Madeline; van der Wees, Marlies; Beerenwinkel, Niko; Fröhlich, Holger; Markowetz, Florian

    2017-04-01

    Maps of genetic interactions can dissect functional redundancies in cellular networks. Gene expression profiles as high-dimensional molecular readouts of combinatorial perturbations provide a detailed view of genetic interactions, but can be hard to interpret if different gene sets respond in different ways (called mixed epistasis). Here we test the hypothesis that mixed epistasis between a gene pair can be explained by the action of a third gene that modulates the interaction. We have extended the framework of Nested Effects Models (NEMs), a type of graphical model specifically tailored to analyze high-dimensional gene perturbation data, to incorporate logical functions that describe interactions between regulators on downstream genes and proteins. We benchmark our approach in the controlled setting of a simulation study and show high accuracy in inferring the correct model. In an application to data from deletion mutants of kinases and phosphatases in S. cerevisiae we show that epistatic NEMs can point to modulators of genetic interactions. Our approach is implemented in the R-package 'epiNEM' available from https://github.com/cbg-ethz/epiNEM and https://bioconductor.org/packages/epiNEM/.

  6. Protective Effect of Sevoflurane Postconditioning against Cardiac Ischemia/Reperfusion Injury via Ameliorating Mitochondrial Impairment, Oxidative Stress and Rescuing Autophagic Clearance.

    Directory of Open Access Journals (Sweden)

    Peng Yu

    , oxidative stress and rescuing autophagic clearance.

  7. Non-genetic effects on growth characteristics of Brahman cattle

    Directory of Open Access Journals (Sweden)

    Nicacia Hernández-Hernández

    2015-01-01

    Full Text Available Objective. To determine how some non-genetic factors influence weights at birth (BW, weaning (WW and yearling (YW of Brahman calves. Materials and methods. Data corresponding to 58257, 57045 and 40364 for BW, WW and YW, respectively, were analyzed. The models included the effects of year and season of birth and sex, and were considered simple interactions. Results. All effects were significant (p0.05 on WW. The average general BW, WW and YW were 32±3.2, 188±37.7 and 291±56.8 kg, respectively. Variables evaluated that take into account the year of birth show a trend to increase weight each year. In relation to the birth season on BW and YW, it was observed that calves born during the rainy season were heavier than those born during the dry season. Similarly, male calves were heavier than females at birth, weaning and one year of age. The effects of the analyzed interactions were significant (p0.05 for BW and WW. Conclusions. The studied non-genetic factors were important and should be taken into account in management strategies when striving to increase the efficiency of the productive system.

  8. Measuring the Effectiveness of a Genetic Counseling Supervision Training Conference.

    Science.gov (United States)

    Atzinger, Carrie L; He, Hua; Wusik, Katie

    2016-08-01

    Genetic counselors who receive formal training report increased confidence and competence in their supervisory roles. The effectiveness of specific formal supervision training has not been assessed previously. A day-long GC supervision conference was designed based on published supervision competencies and was attended by 37 genetic counselors. Linear Mixed Model and post-hoc paired t-test was used to compare Psychotherapy Supervisor Development Scale (PSDS) scores among/between individuals pre and post conference. Generalized Estimating Equation (GEE) model and post-hoc McNemar's test was used to determine if the conference had an effect on GC supervision competencies. PSDS scores were significantly increased 1 week (p competencies, attendees were more likely to agree they were able to perform them after the conference than before. These effects remained significant 6 months later. For the three remaining competencies, the majority of supervisors agreed they could perform these before the conference; therefore, no change was found. This exploratory study showed this conference increased the perceived confidence and competence of the supervisors who attended and increased their self-reported ability to perform certain supervision competencies. While still preliminary, this supports the idea that a one day conference on supervision has the potential to impact supervisor development.

  9. Genetics of primary and timing effects in the mnd mouse

    Energy Technology Data Exchange (ETDEWEB)

    Messer, A.; Plummer, J.; MacMillen, M.C. [New York State, Albany, NY (United States)] [and others

    1995-06-05

    The mnd mouse shows a spontaneous adult-onset hereditary neurological disease, with motor abnormality by 6 months of age, progressing to severe spastic paralysis and premature death. The disease is autosomal recessive, with heterozygote effects seen under stress. It maps to mouse chromosome (chr) 8. Histopathology with Nissl stains documents substantial abnormalities of upper and lower motor neurons, and there is retinal degeneration beginning in the first month, even without light exposure. Increasing levels of autofluorescent lipopigment are found in both neuronal and non-neuronal tissues as the mnd mice age. Recently, NCL-like inclusions and accumulating subunit c have also been described. When mnd is outcrossed to the AKR/J genetic background, ca. 40% of the mnd/mnd F2 progeny show early onset (onset by 4.5-5 months and death by 7 months). This accelerated timing effect seems to be strain-specific, and unlinked to the mnd gene itself. Our current working hypothesis is that the timing effect is due to 2 or 3 unlinked dominant genes with incomplete penetrance at any single locus. In a combined RFLP/PCR fragment genetic analysis, the strongest deviation from the expected ratio of AKR vs B6 alleles occurs with markers on proximal half of chr 1. Additional loci on chrs 5 and 10 may also be involved. The mechanism of interaction of these modifying genes with the primary mnd gene may offer new therapeutic avenues. 22 refs., 2 tabs.

  10. Direct and indirect genetic effects in life-history traits of flour beetles (Tribolium castaneum)

    NARCIS (Netherlands)

    Ellen, Esther D.; Peeters, Katrijn; Verhoeven, Merel; Gols, Rieta; Harvey, Jeffrey A.; Wade, Michael J.; Dicke, Marcel; Bijma, Piter

    2016-01-01

    Indirect genetic effects (IGEs) are the basis of social interactions among conspecifics, and can affect genetic variation of nonsocial and social traits. We used flour beetles (Tribolium castaneum) of two phenotypically distinguishable populations to estimate genetic (co)variances and the effect of

  11. Direct and indirect genetic effects in life-history traits of flour beetles (Tribolium castaneum)

    NARCIS (Netherlands)

    Ellen, E.D.; Peeters, Katrijn; Verhoeven, Merel; Gols, Rieta; Harvey, J.A.; Wade, M.J.; Dicke, Marcel; Bijma, Piter

    2016-01-01

    Indirect genetic effects (IGEs) are the basis of social interactions among conspecifics, and can affect genetic variation of nonsocial and social traits. We used flour beetles (Tribolium castaneum) of two phenotypically distinguishable populations to estimate genetic (co)variances and the effect

  12. Genetic susceptibility: radiation effects relevant to space travel.

    Science.gov (United States)

    Peng, Yuanlin; Nagasawa, Hatsumi; Warner, Christy; Bedford, Joel S

    2012-11-01

    Genetic variation in the capacity to repair radiation damage is an important factor influencing both cellular and tissue radiosensitivity variation among individuals as well as dose rate effects associated with such damage. This paper consists of two parts. The first part reviews some of the available data relating to genetic components governing such variability among individuals in susceptibility to radiation damage relevant for radiation protection and discusses the possibility and extent to which these may also apply for space radiations. The second part focuses on the importance of dose rate effects and genetic-based variations that influence them. Very few dose rate effect studies have been carried out for the kinds of radiations encountered in space. The authors present here new data on the production of chromosomal aberrations in noncycling low passage human ATM+/+ or ATM+/- cells following irradiations with protons (50 MeV or 1 GeV), 1 GeV(-1) n iron ions and gamma rays, where doses were delivered at a high dose rate of 700 mGy(-1) min, or a lower dose rate of 5 mGy min(-1). Dose responses were essentially linear over the dose ranges tested and not significantly different for the two cell strains. Values of the dose rate effectiveness factor (DREF) were expressed as the ratio of the slopes of the dose-response curves for the high versus the lower (5 mGy min(-1)) dose rate exposures. The authors refer to this as the DREF5. For the gamma ray standard, DREF5 values of approximately two were observed. Similar dose rate effects were seen for both energies of protons (DREF5 ≈ 2.2 in both cases). For 1 GeV(-1) n iron ions [linear energy transfer (LET) ≈ 150 keV μ(-1)], the DREF5 was not 1 as might have been expected on the basis of LET alone but was approximately 1.3. From these results and conditions, the authors estimate that the relative biological effectiveness for 1 GeV(-1) n iron ions for high and low dose rates, respectively, were about 10 and 15

  13. Toward a Behavioral Ecology of Rescue Behavior

    National Research Council Canada - National Science Library

    Hollis, Karen L; Nowbahari, Elise

    2013-01-01

    Although the study of helping behavior has revolutionized the field of behavioral ecology, scientific examination of rescue behavior remains extremely rare, except perhaps in ants, having been described as early as 1874...

  14. 基于工作负荷均衡的车辆拯救设施选址%Facility Location for Failure Rescuing Vehicles Considering Workload Equilibrium

    Institute of Scientific and Technical Information of China (English)

    2015-01-01

    交通事故车辆的拯救设施选址是车辆拯救服务的重要问题,选址不当易造成车辆拯救行业服务效率低下、市场行业的不规范、利益不均等一系列问题。针对这类问题,分析了俱乐部和政府引导两种服务模式下的拯救设施选址特点,并提出了针对车辆拯救的工作负荷概念。在不确定性救援路径行程时间条件下,建立以负荷均衡为目标的车辆拯救设施选址模型,以提高设施站点的运营效率和实现车辆拯救企业间的利益平衡。采用三种染色体形式的混合编码和随机模拟方法,设计基于遗传优化的求解算法。最后,通过仿真实例验证了算法的有效性。%Facility location is critical for failure vehicle rescuing during traffic accidents .Improper location of rescuing facilities may result in low service efficiency , unfair competition , and unequal interests between different service enterprises .Both the club-mode and the government dominated rescuing service modes are analyzed for those problems .Based on the definition of the workload equilibrium of rescuing service , the facility location model of vehicle rescuing is built up with consideration of uncertain travel time .The novel model aims to improve the operational efficiency of the rescuing facilities and balance the profits between enterprises for providing rescuing service .A hybrid coding method with three types of chromosomes and stochastic simulation technology are used , and an optimal algorithm based on genetic algorithm is designed for solving the proposed model .Lastly, a case study is used to show the effectiveness of the model and the corresponding algorithm .

  15. Clioquinol synergistically augments rescue by zinc supplementation in a mouse model of acrodermatitis enteropathica.

    Directory of Open Access Journals (Sweden)

    Jim Geiser

    Full Text Available BACKGROUND: Zinc deficiency due to poor nutrition or genetic mutations in zinc transporters is a global health problem and approaches to providing effective dietary zinc supplementation while avoiding potential toxic side effects are needed. METHODS/PRINCIPAL FINDINGS: Conditional knockout of the intestinal zinc transporter Zip4 (Slc39a4 in mice creates a model of the lethal human genetic disease acrodermatitis enteropathica (AE. This knockout leads to acute zinc deficiency resulting in rapid weight loss, disrupted intestine integrity and eventually lethality, and therefore provides a model system in which to examine novel approaches to zinc supplementation. We examined the efficacy of dietary clioquinol (CQ, a well characterized zinc chelator/ionophore, in rescuing the Zip4 (intest KO phenotype. By 8 days after initiation of the knockout neither dietary CQ nor zinc supplementation in the drinking water was found to be effective at improving this phenotype. In contrast, dietary CQ in conjunction with zinc supplementation was highly effective. Dietary CQ with zinc supplementation rapidly restored intestine stem cell division and differentiation of secretory and the absorptive cells. These changes were accompanied by rapid growth and dramatically increased longevity in the majority of mice, as well as the apparent restoration of the homeostasis of several essential metals in the liver. CONCLUSIONS: These studies suggest that oral CQ (or other 8-hydroxyquinolines coupled with zinc supplementation could provide a facile approach toward treating zinc deficiency in humans by stimulating stem cell proliferation and differentiation of intestinal epithelial cells.

  16. Search and Rescue Mission Using Multicopters

    OpenAIRE

    Steen, Thor Audun

    2014-01-01

    Search and rescue operations can greatly benefit from the use of autonomous unmanned aerial systems to survey the environment and collect evidence about the positions of missing persons. This thesis considers the design of an autonomous multicopter system for use in a search and rescue mission. The ArduPilot Mega is used as the autopilot and is presented together with detailed information about the utilized hardware and software. The design of a low- level control interface is implemented as ...

  17. Location Awareness in a Mountain Rescue Domain

    OpenAIRE

    Georgopoulos, Panagiotis; Edwards, Christopher; Dunmore, Martin

    2008-01-01

    Aiding the efficient collaboration and coordination of rescue teams is a challenging task especially in a heterogeneous mountainous region. Knowing the exact location of the rescuers during a mountain search and rescue mission can be of great value for the successful progress of the mission and help the mission coordinator in taking informed decisions. The devised Location Awareness System can provide, in a quasi real time manner, exact location information of the rescuers on the mountain, to...

  18. The Effective Clustering Partition Algorithm Based on the Genetic Evolution

    Institute of Scientific and Technical Information of China (English)

    LIAO Qin; LI Xi-wen

    2006-01-01

    To the problem that it is hard to determine the clustering number and the abnormal points by using the clustering validity function, an effective clustering partition model based on the genetic algorithm is built in this paper. The solution to the problem is formed by the combination of the clustering partition and the encoding samples, and the fitness function is defined by the distances among and within clusters. The clustering number and the samples in each cluster are determined and the abnormal points are distinguished by implementing the triple random crossover operator and the mutation. Based on the known sample data, the results of the novel method and the clustering validity function are compared. Numerical experiments are given and the results show that the novel method is more effective.

  19. Hubble Space Telescope Crew Rescue Analysis

    Science.gov (United States)

    Hamlin, Teri L.; Canga, Michael A.; Cates, Grant R.

    2010-01-01

    In the aftermath of the 2003 Columbia accident, NASA removed the Hubble Space Telescope (HST) Servicing Mission 4 (SM4) from the Space Shuttle manifest. Reasons cited included concerns that the risk of flying the mission would be too high. The HST SM4 was subsequently reinstated and flown as Space Transportation System (STS)-125 because of improvements in the ascent debris environment, the development of techniques for astronauts to perform on orbit repairs to damaged thermal protection, and the development of a strategy to provide a viable crew rescue capability. However, leading up to the launch of STS-125, the viability of the HST crew rescue capability was a recurring topic. For STS-125, there was a limited amount of time available to perform a crew rescue due to limited consumables (power, oxygen, etc.) available on the Orbiter. The success of crew rescue depended upon several factors, including when a problem was identified; when and what actions, such as powering down, were begun to conserve consumables; and where the Launch on Need (LON) vehicle was in its ground processing cycle. Crew rescue success also needed to be weighed against preserving the Orbiter s ability to have a landing option in case there was a problem with the LON vehicle. This paper focuses on quantifying the HST mission loss of crew rescue capability using Shuttle historical data and various power down strategies. Results from this effort supported NASA s decision to proceed with STS-125, which was successfully completed on May 24th 2009.

  20. Unintended effects and their detection in genetically modified crops.

    Science.gov (United States)

    Cellini, F; Chesson, A; Colquhoun, I; Constable, A; Davies, H V; Engel, K H; Gatehouse, A M R; Kärenlampi, S; Kok, E J; Leguay, J-J; Lehesranta, S; Noteborn, H P J M; Pedersen, J; Smith, M

    2004-07-01

    The commercialisation of GM crops in Europe is practically non-existent at the present time. The European Commission has instigated changes to the regulatory process to address the concerns of consumers and member states and to pave the way for removing the current moratorium. With regard to the safety of GM crops and products, the current risk assessment process pays particular attention to potential adverse effects on human and animal health and the environment. This document deals with the concept of unintended effects in GM crops and products, i.e. effects that go beyond that of the original modification and that might impact primarily on health. The document first deals with the potential for unintended effects caused by the processes of transgene insertion (DNA rearrangements) and makes comparisons with genetic recombination events and DNA rearrangements in traditional breeding. The document then focuses on the potential value of evolving "profiling" or "omics" technologies as non-targeted, unbiased approaches, to detect unintended effects. These technologies include metabolomics (parallel analysis of a range of primary and secondary metabolites), proteomics (analysis of polypeptide complement) and transcriptomics (parallel analysis of gene expression). The technologies are described, together with their current limitations. Importantly, the significance of unintended effects on consumer health are discussed and conclusions and recommendations presented on the various approaches outlined.

  1. 30 CFR 49.12 - Availability of mine rescue teams.

    Science.gov (United States)

    2010-07-01

    ... 30 Mineral Resources 1 2010-07-01 2010-07-01 false Availability of mine rescue teams. 49.12... TRAINING MINE RESCUE TEAMS Mine Rescue Teams for Underground Coal Mines § 49.12 Availability of mine rescue teams. (a) Except where alternative compliance is permitted for small and remote mines (§ 49.13),...

  2. 30 CFR 49.8 - Training for mine rescue teams.

    Science.gov (United States)

    2010-07-01

    ... 30 Mineral Resources 1 2010-07-01 2010-07-01 false Training for mine rescue teams. 49.8 Section 49... TRAINING MINE RESCUE TEAMS § 49.8 Training for mine rescue teams. (a) Prior to serving on a mine rescue team each member shall complete, at a minimum, an initial 20-hour course of instruction as...

  3. Analysis of the Effective Degrees of Freedom in Genetic Algorithms

    CERN Document Server

    Stephens, C R

    1998-01-01

    An evolution equation for a population of strings evolving under the genetic operators: selection, mutation and crossover is derived. The corresponding equation describing the evolution of schematas is found by performing an exact coarse graining of this equation. In particular exact expressions for schemata reconstruction are derived which allows for a critical appraisal of the ``building-block hypothesis'' of genetic algorithms. A further coarse-graining is made by considering the contribution of all length-l schematas to the evolution of population observables such as fitness growth. As a test function for investigating the emergence of structure in the evolution the increase per generation of the in-schemata fitness averaged over all schematas of length l, $\\Delta_l$, is introduced. In finding solutions of the evolution equations we concentrate more on the effects of crossover, in particular we consider crossover in the context of Kauffman Nk models with k=0,2. For k=0, with a random initial population, i...

  4. Importance of teamwork, communication and culture on failure-to-rescue in the elderly.

    Science.gov (United States)

    Ghaferi, A A; Dimick, J B

    2016-01-01

    Surgical mortality increases significantly with age. Wide variations in mortality rates across hospitals suggest potential levers for improvement. Failure-to-rescue has been posited as a potential mechanism underlying these differences. A review was undertaken of the literature evaluating surgery, mortality, failure-to-rescue and the elderly. This was followed by a review of ongoing studies and unpublished work aiming to understand better the mechanisms underlying variations in surgical mortality in elderly patients. Multiple hospital macro-system factors, such as nurse staffing, available hospital technology and teaching status, are associated with differences in failure-to-rescue rates. There is emerging literature regarding important micro-system factors associated with failure-to-rescue. These are grouped into three broad categories: hospital resources, attitudes and behaviours. Ongoing work to produce interventions to reduce variations in failure-to-rescue rates include a focus on teamwork, communication and safety culture. Researchers are using novel mixed-methods approaches and theories adapted from organizational studies in high-reliability organizations in an effort to improve the care of elderly surgical patients. Although elderly surgical patients experience failure-to-rescue events at much higher rates than their younger counterparts, patient-level effects do not sufficiently explain these differences. Increased attention to the role of organizational dynamics in hospitals' ability to rescue these high-risk patients will establish high-yield interventions aimed at improving patient safety. © 2015 BJS Society Ltd Published by John Wiley & Sons Ltd.

  5. Genetics in endocrinology: genetic variation in deiodinases: a systematic review of potential clinical effects in humans

    NARCIS (Netherlands)

    Verloop, H.; Dekkers, O.M.; Peeters, R.P.; Schoones, J.W.; Smit, J.W.

    2014-01-01

    Iodothyronine deiodinases represent a family of selenoproteins involved in peripheral and local homeostasis of thyroid hormone action. Deiodinases are expressed in multiple organs and thyroid hormone affects numerous biological systems, thus genetic variation in deiodinases may affect multiple clini

  6. Genomewide mapping reveals a combination of different genetic effects causing the genetic basis of heterosis in two elite rice hybrids

    Indian Academy of Sciences (India)

    Lanzhi Li; Xiaohong He; Hongyan Zhang; Zhiming Wang; Congwei Sun; Tongmin Mou; Xinqi Li; Yuanming Zhang; Zhongli Hu

    2015-06-01

    North Carolina design III (NCIII) is one of the most powerful and widely used mating designs for understanding the genetic basis of heterosis. However, the quantitative trait mapping (QTL) conducted in previous studies with this design was mainly based on analysis of variance (ANOVA), composite interval or multiple interval mapping methods. These methodologies could not investigate all kinds of genetic effects, especially epistatic effects, simultaneously on the whole genome. In this study, with a statistical method for mapping epistatic QTL associated with heterosis using the recombinant inbred line (RIL)-based NCIII design, we conducted QTL mapping for nine agronomic traits of two elite hybrids to characterize the mode of gene action contributing to heterosis on a whole genomewide scale. In total, 23 main-effect QTL (M-QTL) and 23 digenic interactions in IJ (indica × japonica) hybrids, 11 M-QTL and 82 digenic interactions in II (indica × indica) hybrid QTLs were identified in the present study. The variation explained by individual M-QTL or interactions ranged from 2.3 to 11.0%. The number of digenic interactions and the total variation explained by interactions of each trait were larger than those of M-QTL. The augmented genetic effect ratio of most M-QTL and digenic interactions in (L1–L2) data of two backcross populations (L1 and L2) showed complete dominance or overdominance, and in (L1 + L2) data showed an additive effect. Our results indicated that the dominance, overdominance and epistatic effect were important in conditioning the genetic basis of heterosis of the two elite hybrids. The relative contributions of the genetic components varied with traits and the genetic basis of the two hybrids was different.

  7. Genomewide mapping reveals a combination of different genetic effects causing the genetic basis of heterosis in two elite rice hybrids.

    Science.gov (United States)

    Li, Lanzhi; He, Xiaohong; Zhang, Hongyan; Wang, Zhiming; Sun, Congwei; Mou, Tongmin; Li, Xinqi; Zhang, Yuanming; Hu, Zhongli

    2015-06-01

    North Carolina design III (NCIII) is one of the most powerful and widely used mating designs for understanding the genetic basis of heterosis. However, the quantitative trait mapping (QTL) conducted in previous studies with this design was mainly based on analysis of variance (ANOVA), composite interval or multiple interval mapping methods. These methodologies could not investigate all kinds of genetic effects, especially epistatic effects, simultaneously on the whole genome. In this study, with a statistical method for mapping epistatic QTL associated with heterosis using the recombinant inbred line (RIL)-based NCIII design, we conducted QTL mapping for nine agronomic traits of two elite hybrids to characterize the mode of gene action contributing to heterosis on a whole genomewide scale. In total, 23 main-effect QTL (M-QTL) and 23 digenic interactions in IJ (indica x japonica) hybrids, 11 M-QTL and 82 digenic interactions in II (indica x indica) hybrid QTLs were identified in the present study. The variation explained by individual M-QTL or interactions ranged from 2.3 to 11.0%. The number of digenic interactions and the total variation explained by interactions of each trait were larger than those of M-QTL. The augmented genetic effect ratio of most M-QTL and digenic interactions in (L1 - L2) data of two backcross populations (L1 and L2) showed complete dominance or overdominance, and in (L1 + L2) data showed an additive effect. Our results indicated that the dominance, overdominance and epistatic effect were important in conditioning the genetic basis of heterosis of the two elite hybrids. The relative contributions of the genetic components varied with traits and the genetic basis of the two hybrids was different.

  8. Counting statistics for genetic switches based on effective interaction approximation

    Science.gov (United States)

    Ohkubo, Jun

    2012-09-01

    Applicability of counting statistics for a system with an infinite number of states is investigated. The counting statistics has been studied a lot for a system with a finite number of states. While it is possible to use the scheme in order to count specific transitions in a system with an infinite number of states in principle, we have non-closed equations in general. A simple genetic switch can be described by a master equation with an infinite number of states, and we use the counting statistics in order to count the number of transitions from inactive to active states in the gene. To avoid having the non-closed equations, an effective interaction approximation is employed. As a result, it is shown that the switching problem can be treated as a simple two-state model approximately, which immediately indicates that the switching obeys non-Poisson statistics.

  9. Climatological and genetic effects on milk composition and yield.

    Science.gov (United States)

    Sharma, A K; Rodriguez, L A; Mekonnen, G; Wilcox, C J; Bachman, K C; Collier, R J

    1983-01-01

    Results confirm most other research on milk composition and yield. All responses were affected by climate, some considerably more than others, if percent of error variance is the criterion. Jersey yields were less sensitive to climate than were Holstein, but Jersey milk composition appeared more sensitive. Somatic cell count (REF), a measure of mastitis, was affected by climate but less than all other variables except protein/fat and LM%. Needed are estimates of interactions between climatic effects and response surface models to quantify possible improvement in performance following environmental modification. Genetic correlations between milk yield and REF and chloride % suggest that single trait selection for milk yield might increase incidence of mastitis although phenotypic correlations indicate that high yields and absence of mastitis are correlated.

  10. Genetic effects of space hadrons on bacteriophage under Alpine conditions.

    Science.gov (United States)

    Yurov, S S; Belkin, V S; Leont'eva, G A; Knjaseva, I N; Mozgovoy, E G; Kuzin, A M; Akoev, I G

    1980-01-01

    A dried film culture of bacteriophage T4Br + was kept in a lead bioblock for 366 days under Alpine conditions at an altitude of 6100 m above sea level to study the genetic effect of space hadrons. In the gelatin-like film under study we discovered some film plots with markedly reduced bacteriophage survival. In such plots, the mutation frequency exceeded the spontaneous background mutation rate 60-100 times. The spectrum of r mutations as classified into standard groups rI, rII and rIII differed from that found for other model radiation systems such as gamma-ray radiation in buffer or nutrient broth, and hadron and HZE particle radiation under space flight conditions. Reversion analysis of 159 rII mutants showed that 54.4% had small and elongated deletions, 23.16% had point mutations, and 22.5% of all the mutants had both small deletion and point mutations.

  11. Counting statistics for genetic switches based on effective interaction approximation

    CERN Document Server

    Ohkubo, Jun

    2012-01-01

    Applicability of counting statistics for a system with an infinite number of states is investigated. The counting statistics has been studied a lot for a system with a finite number of states. While it is possible to use the scheme in order to count specific transitions in a system with an infinite number of states in principle, we have non-closed equations in general. A simple genetic switch can be described by a master equation with an infinite number of states, and we use the counting statistics in order to count the number of transitions from inactive to active states in the gene. To avoid to have the non-closed equations, an effective interaction approximation is employed. As a result, it is shown that the switching problem can be treated as a simple two-state model approximately, which immediately indicates that the switching obeys non-Poisson statistics.

  12. Disclosing genetic risk for coronary heart disease: effects on perceived personal control and genetic counseling satisfaction.

    Science.gov (United States)

    Robinson, C L; Jouni, H; Kruisselbrink, T M; Austin, E E; Christensen, K D; Green, R C; Kullo, I J

    2016-02-01

    We investigated whether disclosure of coronary heart disease (CHD) genetic risk influences perceived personal control (PPC) and genetic counseling satisfaction (GCS). Participants (n = 207, age: 45-65 years) were randomized to receive estimated 10-year risk of CHD based on a conventional risk score (CRS) with or without a genetic risk score (GRS). Risk estimates were disclosed by a genetic counselor who also reviewed how GRS altered risk in those randomized to CRS+GRS. Each participant subsequently met with a physician and then completed surveys to assess PPC and GCS. Participants who received CRS+GRS had higher PPC than those who received CRS alone although the absolute difference was small (25.2 ± 2.7 vs 24.1 ± 3.8, p = 0.04). A greater proportion of CRS+GRS participants had higher GCS scores (17.3 ± 5.3 vs 15.9 ± 6.3, p = 0.06). In the CRS+GRS group, PPC and GCS scores were not correlated with GRS. Within both groups, PPC and GCS scores were similar in patients with or without family history (p = NS). In conclusion, patients who received their genetic risk of CHD had higher PPC and tended to have higher GCS. Our findings suggest that disclosure of genetic risk of CHD together with conventional risk estimates is appreciated by patients. Whether this results in improved outcomes needs additional investigation.

  13. Genetic radiation effects of Hiroshima and Nagasaki atomic bombs

    Energy Technology Data Exchange (ETDEWEB)

    Srsen, S. (Komenskeho Univ., Bratislava (Czechoslovakia). Lekarska Fakulta)

    1984-05-01

    A group of researchers examined persons who had survived the Hiroshima and Nagasaki bombs and were irradiated and their progeny with the aim of getting an idea of the genetic effects of these explosions. Teratogenic effects are not discussed. In the lymphocytes of the peripheral blood of persons who had been exposed to high dose irradiation the researchers found a significant increase in chromosomal aberrations by conventional and more recent methods of chromosomal analysis. In parents who had survived the atomic holocaust there were no significant deviations as against the rest of the population in still births, neonatal defects, infant mortality, and mortality of first generation progeny, in neonate weight, the sex ratio, increased occurence of leukosis and chromosomal aberrations in their children. These negative findings in the first generation do not signify that there is no danger from atomic bomb blasts for human kind. They only indicate that the effects of radiation were too small to be found by routine methods or that the methods used were not suitable.

  14. Effect of Keishibukuryogan on Genetic and Dietary Obesity Models

    Directory of Open Access Journals (Sweden)

    Fengying Gao

    2015-01-01

    Full Text Available Obesity has been recognized as one of the most important risk factors for a variety of chronic diseases, such as diabetes, hypertension/cardiovascular diseases, steatosis/hepatitis, and cancer. Keishibukuryogan (KBG, Gui Zhi Fu Ling Wan in Chinese is a traditional Chinese/Japanese (Kampo medicine that has been known to improve blood circulation and is also known for its anti-inflammatory or scavenging effect. In this study, we evaluated the effect of KBG in two distinct rodent models of obesity driven by either a genetic (SHR/NDmcr-cp rat model or dietary (high-fat diet-induced mouse obesity model mechanism. Although there was no significant effect on the body composition in either the SHR rat or the DIO mouse models, KBG treatment significantly decreased the serum level of leptin and liver TG level in the DIO mouse, but not in the SHR rat model. Furthermore, a lower fat deposition in liver and a smaller size of adipocytes in white adipose tissue were observed in the DIO mice treated with KBG. Importantly, we further found downregulation of genes involved in lipid metabolism in the KBG-treated liver, along with decreased liver TG and cholesterol level. Our present data experimentally support in fact that KBG can be an attractive Kampo medicine to improve obese status through a regulation of systemic leptin level and/or lipid metabolism.

  15. Protein dynamics associated with failed and rescued learning in the Ts65Dn mouse model of Down syndrome.

    Directory of Open Access Journals (Sweden)

    Md Mahiuddin Ahmed

    Full Text Available Down syndrome (DS is caused by an extra copy of human chromosome 21 (Hsa21. Although it is the most common genetic cause of intellectual disability (ID, there are, as yet, no effective pharmacotherapies. The Ts65Dn mouse model of DS is trisomic for orthologs of ∼55% of Hsa21 classical protein coding genes. These mice display many features relevant to those seen in DS, including deficits in learning and memory (L/M tasks requiring a functional hippocampus. Recently, the N-methyl-D-aspartate (NMDA receptor antagonist, memantine, was shown to rescue performance of the Ts65Dn in several L/M tasks. These studies, however, have not been accompanied by molecular analyses. In previous work, we described changes in protein expression induced in hippocampus and cortex in control mice after exposure to context fear conditioning (CFC, with and without memantine treatment. Here, we extend this analysis to Ts65Dn mice, measuring levels of 85 proteins/protein modifications, including components of MAP kinase and MTOR pathways, and subunits of NMDA receptors, in cortex and hippocampus of Ts65Dn mice after failed learning in CFC and after learning was rescued by memantine. We show that, compared with wild type littermate controls, (i of the dynamic responses seen in control mice in normal learning, >40% also occur in Ts65Dn in failed learning or are compensated by baseline abnormalities, and thus are considered necessary but not sufficient for successful learning, and (ii treatment with memantine does not in general normalize the initial protein levels but instead induces direct and indirect responses in approximately half the proteins measured and results in normalization of the endpoint protein levels. Together, these datasets provide a first view of the complexities associated with pharmacological rescue of learning in the Ts65Dn. Extending such studies to additional drugs and mouse models of DS will aid in identifying pharmacotherapies for effective

  16. Elephant behaviour and conservation: social relationships, the effects of poaching, and genetic tools for management.

    Science.gov (United States)

    Archie, Elizabeth A; Chiyo, Patrick I

    2012-02-01

    Genetic tools are increasingly valuable for understanding the behaviour, evolution, and conservation of social species. In African elephants, for instance, genetic data provide basic information on the population genetic causes and consequences of social behaviour, and how human activities alter elephants' social and genetic structures. As such, African elephants provide a useful case study to understand the relationships between social behaviour and population genetic structure in a conservation framework. Here, we review three areas where genetic methods have made important contributions to elephant behavioural ecology and conservation: (1) understanding kin-based relationships in females and the effects of poaching on the adaptive value of elephant relationships, (2) understanding patterns of paternity in elephants and how poaching can alter these patterns, and (3) conservation genetic tools to census elusive populations, track ivory, and understand the behavioural ecology of crop-raiding. By comparing studies from populations that have experienced a range of poaching intensities, we find that human activities have a large effect on elephant behaviour and genetic structure. Poaching disrupts kin-based association patterns, decreases the quality of elephant social relationships, and increases male reproductive skew, with important consequences for population health and the maintenance of genetic diversity. In addition, we find that genetic tools to census populations or gather forensic information are almost always more accurate than non-genetic alternatives. These results contribute to a growing understanding of poaching on animal behaviour, and how genetic tools can be used to understand and conserve social species. © 2011 Blackwell Publishing Ltd.

  17. Bitopic Sphingosine 1-Phosphate Receptor 3 (S1P3) Antagonist Rescue from Complete Heart Block: Pharmacological and Genetic Evidence for Direct S1P3 Regulation of Mouse Cardiac Conduction

    Science.gov (United States)

    Sanna, M. Germana; Vincent, Kevin P.; Repetto, Emanuela; Nguyen, Nhan; Brown, Steven J.; Abgaryan, Lusine; Riley, Sean W.; Leaf, Nora B.; Cahalan, Stuart M.; Kiosses, William B.; Kohno, Yasushi; Brown, Joan Heller; McCulloch, Andrew D.

    2016-01-01

    The molecular pharmacology of the G protein–coupled receptors for sphingosine 1-phosphate (S1P) provides important insight into established and new therapeutic targets. A new, potent bitopic S1P3 antagonist, SPM-354, with in vivo activity, has been used, together with S1P3-knockin and S1P3-knockout mice to define the spatial and functional properties of S1P3 in regulating cardiac conduction. We show that S1P3 is a key direct regulator of cardiac rhythm both in vivo and in isolated perfused hearts. 2-Amino-2-[2-(4-octylphenyl)ethyl]propane-1,3-diol in vivo and S1P in isolated hearts induced a spectrum of cardiac effects, ranging from sinus bradycardia to complete heart block, as measured by a surface electrocardiogram in anesthetized mice and in volume-conducted Langendorff preparations. The agonist effects on complete heart block are absent in S1P3-knockout mice and are reversed in wild-type mice with SPM-354, as characterized and described here. Homologous knockin of S1P3-mCherry is fully functional pharmacologically and is strongly expressed by immunohistochemistry confocal microscopy in Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4 (HCN4)-positive atrioventricular node and His-Purkinje fibers, with relative less expression in the HCN4-positive sinoatrial node. In Langendorff studies, at constant pressure, SPM-354 restored sinus rhythm in S1P-induced complete heart block and fully reversed S1P-mediated bradycardia. S1P3 distribution and function in the mouse ventricular cardiac conduction system suggest a direct mechanism for heart block risk that should be further studied in humans. A richer understanding of receptor and ligand usage in the pacemaker cells of the cardiac system is likely to be useful in understanding ventricular conduction in health, disease, and pharmacology. PMID:26494861

  18. Railway Tunnel Rescue Station Structure on Research and Effect of Smoke Control and Evacuation of Personnel%基于纵向通风的铁路隧道救援站横通道设置研究

    Institute of Scientific and Technical Information of China (English)

    沈浩; 毕海权

    2014-01-01

    救援站结构形式多种多样,目前并没有统一的设计标准。但救援站结构形式决定了人员疏散效率,同时又影响着通风方案的设计。结合现有人员疏散模型与相关规范从救援站结构形式对人员疏散效率及烟气流动的影响的角度进行研究,为救援站结构设计提供依据。对于救援站采用纵向通风时,横通道风速的一种产生形式进行了模拟分析。%Rescue station structure forms, there is no uniform design standards. But the rescue station structure determines the evacuation efficiency, but also affects the design of the ventilation scheme. In this paper, combined with the existing evacuation model and relevant rules for rescue station structure influence the efficiency of flue gas flow and evacuation of personnel to carry out research, provide the basis for the rescue station structure design. For rescue station using longitudinal ventilation, a form of cross passage wind speed is simulated and analyzed.

  19. A successful mountain rescue operation in Yushu Earthquake%A successful mountain rescue operation in Yushu Earthquake

    Institute of Scientific and Technical Information of China (English)

    Wu Tianyi; Li Suzhi; Hou Shike; Ouzhu Luobu

    2012-01-01

    On April 14, 2010, an earthquake reaching 7.1 Richter scale struck Jiegu Town of Yushu. More than 2 698 people were confirmed dead, and 12 135 were injured, of which 1 434 were severely injured. Rescue operation was carried out soon after the disaster; however, the rescue teams face great challenges of altitude hypoxia, freezing temperature and very bad weather. Thus, 1 434 severe injuries were rapidly transported airlifted to hospitals in Xining and neighboring provinces for effective treatment. The extremity trauma (49.9 % ) was the most common patteru of injuries. Asphyxia (40.8 % ) was by far the most important reason for death. A high incidence of acute altitude illness in the lowland rescuers was a special medical problem during the highest earthquake in Yushu. We have learned more lessons from Yushu Earthquake.

  20. Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.

    Science.gov (United States)

    Melenovská, Petra; Kopecká, Jana; Krijt, Jakub; Hnízda, Aleš; Raková, Kateřina; Janošík, Miroslav; Wilcken, Bridget; Kožich, Viktor

    2015-03-01

    Classical homocystinuria is caused by mutations in the cystathionine β-synthase (CBS) gene. Previous experiments in bacterial and yeast cells showed that many mutant CBS enzymes misfold and that chemical chaperones enable proper folding of a number of mutations. In the present study, we tested the extent of misfolding of 27 CBS mutations previously tested in E. coli under the more folding-permissive conditions of mammalian CHO-K1 cells and the ability of chaperones to rescue the conformation of these mutations. Expression of mutations in mammalian cells increased the median activity 16-fold and the amount of tetramers 3.2-fold compared with expression in bacteria. Subsequently, we tested the responses of seven selected mutations to three compounds with chaperone-like activity. Aminooxyacetic acid and 4-phenylbutyric acid exhibited only a weak effect. In contrast, heme arginate substantially increased the formation of mutant CBS protein tetramers (up to sixfold) and rescued catalytic activity (up to ninefold) of five out of seven mutations (p.A114V, p.K102N, p.R125Q, p.R266K, and p.R369C). The greatest effect of heme arginate was observed for the mutation p.R125Q, which is non-responsive to in vivo treatment with vitamin B(6). Moreover, the heme responsiveness of the p.R125Q mutation was confirmed in fibroblasts derived from a patient homozygous for this genetic variant. Based on these data, we propose that a distinct group of heme-responsive CBS mutations may exist and that the heme pocket of CBS may become an important target for designing novel therapies for homocystinuria.

  1. The effect of genetic selection for Johne's disease resistance n dairy cattle: Results of a genetic-epidemiological model

    NARCIS (Netherlands)

    Hulzen, van K.J.E.; Koets, A.P.; Nielen, M.; Heuven, H.C.M.; Arendonk, van J.A.M.; Klinkenberg, D.

    2014-01-01

    The objective of this study was to model genetic selection for Johne’s disease resistance and to study the effect of different selection strategies on the prevalence in the dairy cattle population. In the Netherlands, a certification-and-surveillance program is in use to reduce prevalence and presen

  2. Wide crossing in lentil through embryo rescue.

    Science.gov (United States)

    Fratini, Richard; Ruiz, Maria L

    2011-01-01

    Lentil seeds have provided an appreciated source of protein, carbohydrates and fibre to the diet of humans since the dawn of agriculture. Low amounts of variation have been detected in the cultivated lentil germplasm collections. Interspecific crosses allow for the introgression of important alleles of agricultural interest from wild species, such as the resistance or tolerance to abiotic and biotic stresses. Interspecific crosses within the genus Lens generally abort and embryo rescue techniques are necessary to recover hybrids. The in vitro culture procedure to rescue interspecific hybrids of Lens consists of at least four different stages: (1) in ovulo embryo culture (2), embryo culture, (3) plantlet development and finally, (4) the gradual habituation to ex vitro conditions of the recovered interspecific hybrid plantlets. In this chapter, the approach to rescue interspecific hybrids in the genus Lens is outlined.

  3. Longitudinal Stability in Genetic Effects on Children's Conversational Language Productivity

    Science.gov (United States)

    DeThorne, Laura Segebart; Harlaar, Nicole; Petrill, Stephen A.; Deater-Deckard, Kirby

    2012-01-01

    Purpose: The authors examined the longitudinal stability of genetic and environmental influences on children's productive language sample measures during the early school-age years. Method: Twin study methodology with structural equation modeling was used to derive univariate estimates of additive genetic (A), shared environmental (C), and…

  4. The effect of host genetics on the gut microbiome

    NARCIS (Netherlands)

    Bonder, Marc Jan; Kurilshchikov, Aleksandr; Tigchelaar-Feenstra, Ettje; Mujagic, Zlatan; Imhann, Floris; Vila, Arnau Vich; Deelen, Patrick; Vatanen, Tommi; Schirmer, Melanie; Smeekens, Sanne P; Zhernakova, Daria V; Jankipersadsing, Soesma A; Jaeger, Martin; Oosting, Marije; Cenit, Maria Carmen; Masclee, Ad A M; Swertz, Morris A; Li, Yang; Kumar, Vinod; Joosten, Leo; Harmsen, Hermie; Weersma, Rinse K; Franke, Lude; Hofker, Marten H; Xavier, Ramnik J; Jonkers, Daisy; Netea, Mihai G; Wijmenga, Cisca; Fu, Jingyuan; Zhernakova, Alexandra

    2016-01-01

    The gut microbiome is affected by multiple factors, including genetics. In this study, we assessed the influence of host genetics on microbial species, pathways and gene ontology categories, on the basis of metagenomic sequencing in 1,514 subjects. In a genome-wide analysis, we identified

  5. "Rescue" regimens after Helicobacter pylori treatment failure

    Institute of Scientific and Technical Information of China (English)

    Javier P Gisbert

    2008-01-01

    Helicobacter pylori (H pylori)infection is the main cause of gastritis,gastroduodenal ulcer disease,and gastric cancer.After more than 20 years of experience in Hpylori treatment,in my opinion,the ideal regimen to treat this infection is still to be found.Currently,apart from having to know first-line eradication regimens well,we must also be prepared to face lyeatment failures.Therefore,in designing a treatment strategy we should not focus on the results of primary therapy alone,but also on the final (overall) eradication rate.The choice of a "rescue" treatment depends on which treatment is used initially.If a clarithromycinbased regimen was used initially,a subsequent metronidazole-based treatment (quadruple therapy)may be used afterwards,and then a levofloxacinbased combination would be a third "rescue" option.Alternatively,it has recently been suggested that levofloxacin-based rescue therapy constitutes an encouraging second-line strategy,representing an alternative to quadruple therapy in patients with previous PPI-clarithromycin-amoxicillin failure,with the advantage of efficacy,simplicity and safety.In this case,a quadruple regimen may be reserved as a third-line rescue option.Finally,rifabutin-based rescue therapy constitutes an encouraging empirical fourthline strategy after multiple previous eradication failures with key antibiotics such as amoxicillin,clarithromycin,metronidazole,tetracycline,and levofloxacin.Even after two consecutive failures,several studies have demonstrated that H pylor/eradication can finally be achieved in almost all patients if several rescue therapies are consecutively given.Therefore,the attitude in H pylori eradication therapy failure,even after two or more unsuccessful attempts,should be to fight and not to surrender.

  6. Prenatal pharmacotherapy rescues brain development in a Down's syndrome mouse model.

    Science.gov (United States)

    Guidi, Sandra; Stagni, Fiorenza; Bianchi, Patrizia; Ciani, Elisabetta; Giacomini, Andrea; De Franceschi, Marianna; Moldrich, Randal; Kurniawan, Nyoman; Mardon, Karine; Giuliani, Alessandro; Calzà, Laura; Bartesaghi, Renata

    2014-02-01

    Intellectual impairment is a strongly disabling feature of Down's syndrome, a genetic disorder of high prevalence (1 in 700-1000 live births) caused by trisomy of chromosome 21. Accumulating evidence shows that widespread neurogenesis impairment is a major determinant of abnormal brain development and, hence, of intellectual disability in Down's syndrome. This defect is worsened by dendritic hypotrophy and connectivity alterations. Most of the pharmacotherapies designed to improve cognitive performance in Down's syndrome have been attempted in Down's syndrome mouse models during adult life stages. Yet, as neurogenesis is mainly a prenatal event, treatments aimed at correcting neurogenesis failure in Down's syndrome should be administered during pregnancy. Correction of neurogenesis during the very first stages of brain formation may, in turn, rescue improper brain wiring. The aim of our study was to establish whether it is possible to rescue the neurodevelopmental alterations that characterize the trisomic brain with a prenatal pharmacotherapy with fluoxetine, a drug that is able to restore post-natal hippocampal neurogenesis in the Ts65Dn mouse model of Down's syndrome. Pregnant Ts65Dn females were treated with fluoxetine from embryonic Day 10 until delivery. On post-natal Day 2 the pups received an injection of 5-bromo-2-deoxyuridine and were sacrificed after either 2 h or after 43 days (at the age of 45 days). Untreated 2-day-old Ts65Dn mice exhibited a severe neurogenesis reduction and hypocellularity throughout the forebrain (subventricular zone, subgranular zone, neocortex, striatum, thalamus and hypothalamus), midbrain (mesencephalon) and hindbrain (cerebellum and pons). In embryonically treated 2-day-old Ts65Dn mice, precursor proliferation and cellularity were fully restored throughout all brain regions. The recovery of proliferation potency and cellularity was still present in treated Ts65Dn 45-day-old mice. Moreover, embryonic treatment restored

  7. The Duty to Rescue and Investigators' Obligations.

    Science.gov (United States)

    MacKay, Douglas; Rulli, Tina

    We examine current applications of the moral duty to rescue to justify clinical investigators' duties of ancillary care and standard of care to subjects in resource-poor settings. These applications fail to explain why investigators possess obligations to research participants, in particular, and not to people in need, in general. Further, these applications fail to recognize the normative significance of the institutional role of the investigators. We offer a positive account of the duty to rescue for investigators as institutional agents, with duties to populations rather than merely individuals.

  8. A novel rescue-tube device for in-water resuscitation.

    Science.gov (United States)

    Lungwitz, Yannick P; Nussbaum, Benedikt L; Paulat, Klaus; Muth, Claus-Martin; Kranke, Peter; Winkler, Bernd E

    2015-04-01

    In-water resuscitation (IWR) is recommended in the 2010 guidelines of the European Resuscitation Council. As IWR represents a physical challenge to the rescuer, a novel Rescue Tube device with an integrated "Oxylator" resuscitator might facilitate IWR. The aim of the present study was the assessment of IWR using the novel Rescue Tube device. Tidal and minute volumes were recorded using a modified Laerdal Resusci Anne mannequin. Furthermore, rescue time, water aspiration, submersions, and physical exertion were assessed. In this randomized cross-over trial, 17 lifeguards performed four rescue maneuvers over a 100-m distance in open water in random order: no ventilation (NV), mouth-to-mouth ventilation (MMV), Oxylator-aided mask ventilation (OMV), and Oxylator-aided laryngeal tube ventilation (OLTV). OLTV resulted in effective ventilation over the entire rescue distance with the highest mean minute volumes (NV 0, MMV 2.9, OMV 4.1, OLTV 7.6 L · min(-1)). NV was the fastest rescue maneuver while IWR prolonged the rescue maneuver independently of the method of ventilation (mean total rescue time: NV 217, MMV 280, OMV 292, OLTV 290 s). Aspiration of substantial amounts of water occurred only during MMV (mean NV 20, MMV 215, OMV 15, OLTV 6 ml). NV and OLTV were rated as moderately challenging by the lifeguards, whereas MMV and OMV were rated as substantially demanding on a 0-10 visual analog scale (NV 5.3, MMV 7.8, OMV 7.6, OLTV 5.9). The device might facilitate IWR by providing effective ventilation with minimal aspiration and by reducing physical effort. Another advantage is the possibility of delivering 100% oxygen.

  9. Medical Rescue of China International Search & Rescue Team (CISAR) in Nepal Earthquake.

    Science.gov (United States)

    Yang, Jiong; Yang, Zhen; Lv, Qi; Liu, Hai-Feng; Ding, Hui; Yu, Meng-Yang; Zeng, Xi-Huan; Wang, Xin; Fan, Hao-Jun

    2016-05-18

    On April 25, 2015, a massive 8.1-magnitude earthquake struck Nepal at 2:11 pm (Beijing time). The 68-member-strong China International Search & Rescue Team (CISAR) left for Nepal at 6 am, April 26, to help with relief work. The CISAR was the first foreign team to rescue a survivor who was trapped beneath the rubble in the Gongabu area after the earthquake. On May 8, the team fulfilled the search-and-rescue mission and returned to Beijing. During the 2 weeks of rescue work, the team treated more than 3700 victims and cleared approximately 430 buildings. In this rescue mission, 10 experienced medical officers (including nine doctors and a nurse) from the General Hospital of Chinese People's Armed Police Force (PAP) comprised the medical team of CISAR. In this report, we focus on the medical rescues by CISAR and discuss the characteristics of the medical rescue in Nepal. (Disaster Med Public Health Preparedness. 2016;page 1 of 3).

  10. Rescue of the 1947 Zika Virus Prototype Strain with a Cytomegalovirus Promoter-Driven cDNA Clone

    Science.gov (United States)

    Schwarz, Megan C.; Sourisseau, Marion; Espino, Michael M.; Gray, Essanna S.; Chambers, Matthew T.; Tortorella, Domenico

    2016-01-01

    ABSTRACT The recent Zika virus (ZIKV) outbreak has been linked to severe pathogenesis. Here, we report the construction of a plasmid carrying a cytomegalovirus (CMV) promoter-expressed prototype 1947 Uganda MR766 ZIKV cDNA that can initiate infection following direct plasmid DNA transfection of mammalian cells. Incorporation of a synthetic intron in the nonstructural protein 1 (NS1) region of the ZIKV polyprotein reduced viral cDNA-associated toxicity in bacteria. High levels of infectious virus were produced following transfection of the plasmid bearing the wild-type MR766 ZIKV genome, but not one with a disruption to the viral nonstructural protein 5 (NS5) polymerase active site. Multicycle growth curve and plaque assay experiments indicated that the MR766 virus resulting from plasmid transfection exhibited growth characteristics that were more similar to its parental isolate than previously published 2010 Cambodia and 2015 Brazil cDNA-rescued ZIKV. This ZIKV infectious clone will be useful for investigating the genetic determinants of ZIKV infection and pathogenesis and should be amenable to construction of diverse infectious clones expressing reporter proteins and representing a range of ZIKV isolates. IMPORTANCE The study of ZIKV, which has become increasingly important with the recent association of this virus with microcephaly and Guillain-Barré syndrome, would benefit from an efficient strategy to genetically manipulate the virus. This work describes a model system to produce infectious virus in cell culture. We created a plasmid carrying the prototype 1947 Uganda MR766 ZIKV genome that both was stable in bacteria and could produce high levels of infectious virus in mammalian cells through direct delivery of this DNA. Furthermore, growth properties of this rescued virus closely resembled those of the viral isolate from which it was derived. This model system will provide a simple and effective means to study how ZIKV genetics impact viral replication and

  11. Nature vs. nurture: can enrichment rescue the behavioural phenotype of BDNF heterozygous mice?

    Science.gov (United States)

    Chourbaji, Sabine; Brandwein, Christiane; Vogt, Miriam A; Dormann, Christof; Hellweg, Rainer; Gass, Peter

    2008-10-10

    In earlier experiments we have demonstrated that group-housing in a rather impoverished "standard" environment can be a crucial stress factor in male C57Bl/6 mice. The present study aimed at investigating the effect of combining a probable genetic vulnerability--postulated by the "Neurotrophin Hypothesis of Depression"--with the potentially modulating influence of a stressful environment such as "impoverished" standard housing conditions. For that purpose mice with a partial deletion of brain-derived neurotrophic factor (BDNF) were group-housed under standard and enriched housing conditions and analysed in a well-established test battery for emotional behaviours. Standard group-housing affected emotional behaviour in male and female BDNF heterozygous mice, causing an increase in anxiety, changes in exploration as well as nociception. Providing the animals' cages with supplementary enrichment, however, led to a rescue of emotional alterations, which emphasises the significance of external factors and their relevance for a valid investigation of genetic aspects in these mutants as well as others, which may be examined in terms of stress-responsiveness or emotionality.

  12. Effects of complex life cycles on genetic diversity: cyclical parthenogenesis.

    Science.gov (United States)

    Rouger, R; Reichel, K; Malrieu, F; Masson, J P; Stoeckel, S

    2016-11-01

    Neutral patterns of population genetic diversity in species with complex life cycles are difficult to anticipate. Cyclical parthenogenesis (CP), in which organisms undergo several rounds of clonal reproduction followed by a sexual event, is one such life cycle. Many species, including crop pests (aphids), human parasites (trematodes) or models used in evolutionary science (Daphnia), are cyclical parthenogens. It is therefore crucial to understand the impact of such a life cycle on neutral genetic diversity. In this paper, we describe distributions of genetic diversity under conditions of CP with various clonal phase lengths. Using a Markov chain model of CP for a single locus and individual-based simulations for two loci, our analysis first demonstrates that strong departures from full sexuality are observed after only a few generations of clonality. The convergence towards predictions made under conditions of full clonality during the clonal phase depends on the balance between mutations and genetic drift. Second, the sexual event of CP usually resets the genetic diversity at a single locus towards predictions made under full sexuality. However, this single recombination event is insufficient to reshuffle gametic phases towards full-sexuality predictions. Finally, for similar levels of clonality, CP and acyclic partial clonality (wherein a fixed proportion of individuals are clonally produced within each generation) differentially affect the distribution of genetic diversity. Overall, this work provides solid predictions of neutral genetic diversity that may serve as a null model in detecting the action of common evolutionary or demographic processes in cyclical parthenogens (for example, selection or bottlenecks).

  13. Genetic Effects on Fine-Grained Human Cortical Regionalization.

    Science.gov (United States)

    Cui, Yue; Liu, Bing; Zhou, Yuan; Fan, Lingzhong; Li, Jin; Zhang, Yun; Wu, Huawang; Hou, Bing; Wang, Chao; Zheng, Fanfan; Qiu, Chengxiang; Rao, Li-Lin; Ning, Yuping; Li, Shu; Jiang, Tianzi

    2016-09-01

    Various brain structural and functional features such as cytoarchitecture, topographic mapping, gyral/sulcal anatomy, and anatomical and functional connectivity have been used in human brain parcellation. However, the fine-grained intrinsic genetic architecture of the cortex remains unknown. In the present study, we parcellated specific regions of the cortex into subregions based on genetic correlations (i.e., shared genetic influences) between the surface area of each pair of cortical locations within the seed region. The genetic correlations were estimated by comparing the correlations of the surface area between monozygotic and dizygotic twins using bivariate twin models. Our genetic subdivisions of diverse brain regions were reproducible across 2 independent datasets and corresponded closely to fine-grained functional specializations. Furthermore, subregional genetic correlation profiles were generally consistent with functional connectivity patterns. Our findings indicate that the magnitude of the genetic covariance in brain anatomy could be used to delineate the boundaries of functional subregions of the brain and may be of value in the next generation human brain atlas.

  14. Rescuing degrading aquifers in the Central Coastal Plain of North Carolina (USA): Just process, effective groundwater management policy, and sustainable aquifers

    Science.gov (United States)

    Manda, Alex K.; Klein, Wendy A.

    2014-07-01

    Strategic management of degrading coastal aquifers in eastern North Carolina (USA) became imperative after a severe imbalance occurred between withdrawal and recharge rates. To ameliorate this growing problem, an aggressive water policy was developed through public input by creating the Central Coastal Plain Capacity Use Area (CCPCUA) to maintain beneficial use of groundwater resources. Insights from social psychology, and socio-legal studies are used to evaluate how procedural justice and public participation played major roles to resolving groundwater resource management problems. A mixed methods approach uses archival data and interviews with various rule-making participants to assess the process of stakeholder involvement that led to creation of the policy. In addition, data analysis techniques are utilized to evaluate the effects of the policy on aquifer health (through water levels) over a ˜10 year period. Results suggest that not only did a stakeholder group participate in a process that was deemed fair, understandable, and relatively easy to administer for users and regulators, but public participation resulted in an effective plan that ensures the long-term sustainable use of groundwater. Declining groundwater withdrawals and recovering water levels suggest that the rule is achieving its intended goal of protecting the aquifers from depletion and degradation. This paper touches on global themes that are essential to water demand and consumption, water management techniques, and water resources protection.

  15. 'We didn't know anything, it was a mess!' Emergent structures and the effectiveness of a rescue operation multi-team system.

    Science.gov (United States)

    Fleştea, Alina Maria; Fodor, Oana Cătălina; Curşeu, Petru Lucian; Miclea, Mircea

    2017-01-01

    Multi-team systems (MTS) are used to tackle unpredictable events and to respond effectively to fast-changing environmental contingencies. Their effectiveness is influenced by within as well as between team processes (i.e. communication, coordination) and emergent phenomena (i.e. situational awareness). The present case study explores the way in which the emergent structures and the involvement of bystanders intertwine with the dynamics of processes and emergent states both within and between the component teams. Our findings show that inefficient transition process and the ambiguous leadership generated poor coordination and hindered the development of emergent phenomena within the whole system. Emergent structures and bystanders substituted leadership functions and provided a pool of critical resources for the MTS. Their involvement fostered the emergence of situational awareness and facilitated contingency planning processes. However, bystander involvement impaired the emergence of cross-understandings and interfered with coordination processes between the component teams. Practitioner Summary: Based on a real emergency situation, the present research provides important theoretical and practical insights about the role of bystander involvement in the dynamics of multi-team systems composed to tackle complex tasks and respond to fast changing and unpredictable environmental contingencies.

  16. The genetic and economic effect of preliminary culling in the seedling orchard

    Science.gov (United States)

    Don E. Riemenschneider

    1977-01-01

    The genetic and economic effects of two stages of truncation selection in a white spruce seedling orchard were investigated by computer simulation. Genetic effects were computed by assuming a bivariate distribution of juvenile and mature traits and volume was used as the selection criterion. Seed production was assumed to rise in a linear fashion to maturity and then...

  17. Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: A Mendelian randomisation analysis

    NARCIS (Netherlands)

    C.M. Freitag (Christine); A.S. Butterworth (Adam); J. Willeit (Johann); J.M.M. Howson (Joanna M.M.); S. Burgess (Stephen); S. Kaptoge (Stephen); R. Young (Robin); W.K. Ho (Weang Kee); A.M. Wood (Angela); M. Sweeting (Michael); S. Spackman (Sarah); J.R. Staley (James R.); A. Ramond (Anna); E. Harshfield (Eric); S.F. Nielsen (Sune); P. Grande (Peer); L.A. Lange (Leslie); M.J. Bown (Matthew J.); G.T. Jones (Gregory); R.A. Scott (Robert); S. Bevan (Steve); E. Porcu (Eleonora); G. Thorleifsson (Gudmar); L. Zeng (Lingyao); T. Kessler (Thorsten); M. Nikpay (Majid); R. Do (Ron); W. Zhang (Weihua); J. Hopewell; M.E. Kleber (Marcus); G. Delgado; C.P. Nelson (Christopher P.); A. Goel (Anuj); J.C. Bis (Joshua); A. Dehghan (Abbas); S. Ligthart (Symen); G.D. Smith; L. Qu (Liming); F.N.G. Van 'T Hof (Femke); P.I.W. de Bakker (Paul); A.F. Baas (Annette); A.M. van Rij (Andre); G. Tromp (Gerard); H. Kuivaniemi (Helena); M.D. Ritchie (Marylyn D.); S.S. Verma (Shefali S.); D.C. Crawford (Dana); J. Malinowski (Jennifer); M. de Andrade (Mariza); I. Kullo (Iftikhar); P.L. Peissig (Peggy L.); C.A. McCarty (Catherine A.); E.P. Bottinger (Erwin); R.F. Gottesman (Rebecca); D.R. Crosslin (David); D.S. Carrell (David); L.J. Rasmussen-Torvik (Laura); J.A. Pacheco (Jennifer A.); J. Huang (Jie); N. Timpson (Nicholas); J. Kettunen (Johannes); M. Ala-Korpela (Mika); G.F. Mitchell (Gary); A. Parsa (Afshin); I.B. Wilkinson (Ian B.); M. Gorski (Mathias); Y. Li (Yong); N. Franceschini (Nora); M.F. Keller (Margaux); S.K. Ganesh (Santhi); C.D. Langefeld (Carl); L. Bruijn (Lucie); M.A. Brown (Matthew); D.M. Evans (David M.); S. Baltic (Svetlana); M.A. Ferreira (Manuel); H. Baurecht (Hansjörg); S. Weidinger (Stephan); A. Franke (Andre); S.A. Lubitz (Steven); M. Müller-Nurasyid (Martina); J.F. Felix (Janine); N.L. Smith (Nicholas); M. Sudman (Marc); S.D. Thompson (Susan D.); E. Zeggini (Eleftheria); K. Panoutsopoulou (Kalliope); M.A. Nalls (Michael); A. Singleton (Andrew); C. Polychronakos (Constantin); J.P. Bradfield (Jonathan); H. Hakonarson (Hakon); D.F. Easton (Douglas); D. Thompson (Deborah); I.P. Tomlinson (Ian); M. Dunlop (Malcolm); K. Hemminki (Kari); G. Morgan (Gareth); T. Eisen (Timothy); H. Goldschmidt (Hartmut); J.M. Allan (James); M. Henrion (Marc); N. Whiffin (Nicola); Y. Wang (Yufei); D. Chubb (Daniel); M.M. Iles (Mark M.); D.T. Bishop (David Timothy); M.H. Law (Matthew H.); N. Hayward (Nick); Y. Luo (Yang); S. Nejentsev (Sergey); M. Barbalic (maja); D. Crossman (David); S. Sanna (Serena); N. Soranzo (Nicole); H.S. Markus (Hugh); N.J. Wareham (Nick); D.J. Rader (Daniel); M.P. Reilly (Muredach); T.L. Assimes (Themistocles); T.B. Harris (Tamara B.); A. Hofman (Albert); O.H. Franco (Oscar); V. Gudnason (Vilmundur); R.P. Tracy (Russell); B.M. Psaty (Bruce); M. Farrall (Martin); H. Watkins (Hugh); A.S. Hall (Alistair); N.J. Samani (Nilesh); W. März (Winfried); R. Clarke (Robert); F.S. Collins (Francis); J.S. Kooner (Jaspal S.); J.C. Chambers (John C.); S. Kathiresan (Sekar); R. McPherson (Ruth); J. Erdmann (Jeanette); A. Kastrati (Adnan); H. Schunkert (Heribert); J-A. Zwart (John-Anker); U. Thorsteinsdottir (Unnur); J. Walston (Jeremy); A. Tybjaerg-Hansen; D.S. Alam (Dewan S.); A. Al Shafi Majumder (Abdullah); E.D. Angelantonio (Emanuele Di); R. Chowdhury (Rajiv); B.G. Nordestgaard (Børge); D. Saleheen; S.G. Thompson (Simon); J. Danesh (John); R. Houlston (Richard)

    2015-01-01

    textabstractTo investigate potential cardiovascular and other effects of long-term pharmacological interleukin 1 (IL-1) inhibition, we studied genetic variants that produce inhibition of IL-1, a master regulator of inflammation. Methods: We created a genetic score combining the effects of alleles of

  18. Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist : A Mendelian randomisation analysis

    NARCIS (Netherlands)

    Freitag, Daniel; Butterworth, Adam S.; Willeit, Peter; Howson, Joanna M M; Burgess, Stephen; Kaptoge, Stephen; Young, Robin; Ho, Weang Kee; Wood, Angela M.; Sweeting, Michael; Spackman, Sarah; Staley, James R.; Ramond, Anna; Harshfield, Eric; Nielsen, Sune F.; Grande, Peer; Lange, Leslie A.; Bown, Matthew J.; Jones, Gregory T.; Scott, Robert A.; Bevan, Steve; Porcu, Eleonora; Thorleifsson, Gudmar; Zeng, Lingyao; Kessler, Thorsten; Nikpay, Majid; Do, Ron; Zhang, Weihua; Hopewell, Jemma C.; Kleber, Marcus; Delgado, Graciela E.; Nelson, Christopher P.; Goel, Anuj; Bis, Joshua C.; Dehghan, Abbas; Ligthart, Symen; Smith, Albert V.; Qu, Liming; van 't Hof, Femke N G; de Bakker, Paul I W; Baas, Annette F.; van Rij, Andre; Tromp, Gerard; Kuivaniemi, Helena; Ritchie, Marylyn D.; Verma, Shefali S.; Crawford, Dana C.; Malinowski, Jennifer; de Andrade, Mariza; Kullo, Iftikhar J.; Peissig, Peggy L.; McCarty, Catherine A.; Böttinger, Erwin P.; Gottesman, Omri; Crosslin, David R.; Carrell, David S.; Rasmussen-Torvik, Laura J.; Pacheco, Jennifer A.; Huang, Jie; Timpson, Nicholas J.; Kettunen, Johannes; Ala-Korpela, Mika; Mitchell, Gary F.; Parsa, Afshin; Wilkinson, Ian B.; Gorski, Mathias; Li, Yong; Franceschini, Nora; Keller, Margaux F.; Ganesh, Santhi K.; Langefeld, Carl D.; Bruijn, Lucie; Brown, Matthew A.; Evans, David M.; Baltic, Svetlana; Ferreira, Manuel A.; Baurecht, Hansjörg; Weidinger, Stephan; Franke, Andre; Lubitz, Steven A.; Müller-Nurasyid, Martina; Felix, Janine F.; Smith, Nicholas L.; Sudman, Marc; Thompson, Susan D.; Zeggini, Eleftheria; Panoutsopoulou, Kalliope; Nalls, Mike A.; Singleton, Andrew; Polychronakos, Constantin; Bradfield, Jonathan P.; Hakonarson, Hakon; Easton, Douglas F.; Thompson, Deborah; Tomlinson, Ian P.; Dunlop, Malcolm; Hemminki, Kari; Morgan, Gareth; Eisen, Timothy; Goldschmidt, Hartmut; Allan, James M.; Henrion, Marc; Whiffin, Nicola; Wang, Yufei; Chubb, Daniel; Iles, Mark M.; Bishop, D. Timothy; Law, Matthew H.; Hayward, Nicholas K.; Luo, Yang; Nejentsev, Sergey; Barbalic, Maja; Crossman, David; Sanna, Serena; Soranzo, Nicole; Markus, Hugh S.; Wareham, Nicholas J.; Rader, Daniel J.; Reilly, Muredach; Assimes, Themistocles; Harris, Tamara B.; Hofman, Albert; Franco, Oscar H.; Gudnason, Vilmundur; Tracy, Russell; Psaty, Bruce M.; Farrall, Martin; Watkins, Hugh; Hall, Alistair S.; Samani, Nilesh J.; März, Winfried; Clarke, Robert; Collins, Rory; Kooner, Jaspal S.; Chambers, John C.; Kathiresan, Sekar; McPherson, Ruth; Erdmann, Jeanette; Kastrati, Adnan; Schunkert, Heribert; Stefánsson, Kári; Thorsteinsdottir, Unnur; Walston, Jeremy D.; Tybjærg-Hansen, Anne; Alam, Dewan S.; Al Shafi Majumder, Abdullah; Angelantonio, Emanuele Di; Chowdhury, Rajiv; Nordestgaard, Børge G.; Saleheen, Danish; Thompson, Simon G.; Danesh, John; Houlston, Richard S.

    2015-01-01

    To investigate potential cardiovascular and other effects of long-term pharmacological interleukin 1 (IL-1) inhibition, we studied genetic variants that produce inhibition of IL-1, a master regulator of inflammation. Methods: We created a genetic score combining the effects of alleles of two common

  19. Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist

    DEFF Research Database (Denmark)

    2015-01-01

    BACKGROUND: To investigate potential cardiovascular and other effects of long-term pharmacological interleukin 1 (IL-1) inhibition, we studied genetic variants that produce inhibition of IL-1, a master regulator of inflammation. METHODS: We created a genetic score combining the effects of alleles...

  20. Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: A Mendelian randomisation analysis

    NARCIS (Netherlands)

    C.M. Freitag (Christine); A.S. Butterworth (Adam); J. Willeit (Johann); J.M.M. Howson (Joanna M.M.); S. Burgess (Stephen); S. Kaptoge (Stephen); R. Young (Robin); W.K. Ho (Weang Kee); A.M. Wood (Angela); M. Sweeting (Michael); S. Spackman (Sarah); J.R. Staley (James R.); A. Ramond (Anna); E. Harshfield (Eric); S.F. Nielsen (Sune); P. Grande (Peer); L.A. Lange (Leslie); M.J. Bown (Matthew J.); G.T. Jones (Gregory); R.A. Scott (Robert); S. Bevan (Steve); E. Porcu (Eleonora); G. Thorleifsson (Gudmar); L. Zeng (Lingyao); T. Kessler (Thorsten); M. Nikpay (Majid); R. Do (Ron); W. Zhang (Weihua); J. Hopewell; M.E. Kleber (Marcus); G. Delgado; C.P. Nelson (Christopher P.); A. Goel (Anuj); J.C. Bis (Joshua); A. Dehghan (Abbas); S. Ligthart (Symen); G.D. Smith; L. Qu (Liming); F.N.G. Van 'T Hof (Femke); P.I.W. de Bakker (Paul); A.F. Baas (Annette); A.M. van Rij (Andre); G. Tromp (Gerard); H. Kuivaniemi (Helena); M.D. Ritchie (Marylyn D.); S.S. Verma (Shefali S.); D.C. Crawford (Dana); J. Malinowski (Jennifer); M. de Andrade (Mariza); I. Kullo (Iftikhar); P.L. Peissig (Peggy L.); C.A. McCarty (Catherine A.); E.P. Bottinger (Erwin); R.F. Gottesman (Rebecca); D.R. Crosslin (David); D.S. Carrell (David); L.J. Rasmussen-Torvik (Laura); J.A. Pacheco (Jennifer A.); J. Huang (Jie); N. Timpson (Nicholas); J. Kettunen (Johannes); M. Ala-Korpela (Mika); G.F. Mitchell (Gary); A. Parsa (Afshin); I.B. Wilkinson (Ian B.); M. Gorski (Mathias); Y. Li (Yong); N. Franceschini (Nora); M.F. Keller (Margaux); S.K. Ganesh (Santhi); C.D. Langefeld (Carl); L. Bruijn (Lucie); M.A. Brown (Matthew); D.M. Evans (David M.); S. Baltic (Svetlana); M.A. Ferreira (Manuel); H. Baurecht (Hansjörg); S. Weidinger (Stephan); A. Franke (Andre); S.A. Lubitz (Steven); M. Müller-Nurasyid (Martina); J.F. Felix (Janine); N.L. Smith (Nicholas); M. Sudman (Marc); S.D. Thompson (Susan D.); E. Zeggini (Eleftheria); K. Panoutsopoulou (Kalliope); M.A. Nalls (Michael); A. Singleton (Andrew); C. Polychronakos (Constantin); J.P. Bradfield (Jonathan); H. Hakonarson (Hakon); D.F. Easton (Douglas); D. Thompson (Deborah); I.P. Tomlinson (Ian); M. Dunlop (Malcolm); K. Hemminki (Kari); G. Morgan (Gareth); T. Eisen (Timothy); H. Goldschmidt (Hartmut); J.M. Allan (James); M. Henrion (Marc); N. Whiffin (Nicola); Y. Wang (Yufei); D. Chubb (Daniel); M.M. Iles (Mark M.); D.T. Bishop (David Timothy); M.H. Law (Matthew H.); N. Hayward (Nick); Y. Luo (Yang); S. Nejentsev (Sergey); M. Barbalic (maja); D. Crossman (David); S. Sanna (Serena); N. Soranzo (Nicole); H.S. Markus (Hugh); N.J. Wareham (Nick); D.J. Rader (Daniel); M.P. Reilly (Muredach); T.L. Assimes (Themistocles); T.B. Harris (Tamara B.); A. Hofman (Albert); O.H. Franco (Oscar); V. Gudnason (Vilmundur); R.P. Tracy (Russell); B.M. Psaty (Bruce); M. Farrall (Martin); H. Watkins (Hugh); A.S. Hall (Alistair); N.J. Samani (Nilesh); W. März (Winfried); R. Clarke (Robert); F.S. Collins (Francis); J.S. Kooner (Jaspal S.); J.C. Chambers (John C.); S. Kathiresan (Sekar); R. McPherson (Ruth); J. Erdmann (Jeanette); A. Kastrati (Adnan); H. Schunkert (Heribert); J-A. Zwart (John-Anker); U. Thorsteinsdottir (Unnur); J. Walston (Jeremy); A. Tybjaerg-Hansen; D.S. Alam (Dewan S.); A. Al Shafi Majumder (Abdullah); E.D. Angelantonio (Emanuele Di); R. Chowdhury (Rajiv); B.G. Nordestgaard (Børge); D. Saleheen; S.G. Thompson (Simon); J. Danesh (John); R. Houlston (Richard)

    2015-01-01

    textabstractTo investigate potential cardiovascular and other effects of long-term pharmacological interleukin 1 (IL-1) inhibition, we studied genetic variants that produce inhibition of IL-1, a master regulator of inflammation. Methods: We created a genetic score combining the effects of alleles of

  1. Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist : A Mendelian randomisation analysis

    NARCIS (Netherlands)

    Freitag, Daniel; Butterworth, Adam S.; Willeit, Peter; Howson, Joanna M M; Burgess, Stephen; Kaptoge, Stephen; Young, Robin; Ho, Weang Kee; Wood, Angela M.; Sweeting, Michael; Spackman, Sarah; Staley, James R.; Ramond, Anna; Harshfield, Eric; Nielsen, Sune F.; Grande, Peer; Lange, Leslie A.; Bown, Matthew J.; Jones, Gregory T.; Scott, Robert A.; Bevan, Steve; Porcu, Eleonora; Thorleifsson, Gudmar; Zeng, Lingyao; Kessler, Thorsten; Nikpay, Majid; Do, Ron; Zhang, Weihua; Hopewell, Jemma C.; Kleber, Marcus; Delgado, Graciela E.; Nelson, Christopher P.; Goel, Anuj; Bis, Joshua C.; Dehghan, Abbas; Ligthart, Symen; Smith, Albert V.; Qu, Liming; van 't Hof, Femke N G; de Bakker, Paul I W|info:eu-repo/dai/nl/342957082; Baas, Annette F.; van Rij, Andre; Tromp, Gerard; Kuivaniemi, Helena; Ritchie, Marylyn D.; Verma, Shefali S.; Crawford, Dana C.; Malinowski, Jennifer; de Andrade, Mariza; Kullo, Iftikhar J.; Peissig, Peggy L.; McCarty, Catherine A.; Böttinger, Erwin P.; Gottesman, Omri; Crosslin, David R.; Carrell, David S.; Rasmussen-Torvik, Laura J.; Pacheco, Jennifer A.; Huang, Jie; Timpson, Nicholas J.; Kettunen, Johannes; Ala-Korpela, Mika; Mitchell, Gary F.; Parsa, Afshin; Wilkinson, Ian B.; Gorski, Mathias; Li, Yong; Franceschini, Nora; Keller, Margaux F.; Ganesh, Santhi K.; Langefeld, Carl D.; Bruijn, Lucie; Brown, Matthew A.; Evans, David M.; Baltic, Svetlana; Ferreira, Manuel A.; Baurecht, Hansjörg; Weidinger, Stephan; Franke, Andre; Lubitz, Steven A.; Müller-Nurasyid, Martina; Felix, Janine F.; Smith, Nicholas L.; Sudman, Marc; Thompson, Susan D.; Zeggini, Eleftheria; Panoutsopoulou, Kalliope; Nalls, Mike A.; Singleton, Andrew; Polychronakos, Constantin; Bradfield, Jonathan P.; Hakonarson, Hakon; Easton, Douglas F.; Thompson, Deborah; Tomlinson, Ian P.; Dunlop, Malcolm; Hemminki, Kari; Morgan, Gareth; Eisen, Timothy; Goldschmidt, Hartmut; Allan, James M.; Henrion, Marc; Whiffin, Nicola; Wang, Yufei; Chubb, Daniel; Iles, Mark M.; Bishop, D. Timothy; Law, Matthew H.; Hayward, Nicholas K.; Luo, Yang; Nejentsev, Sergey; Barbalic, Maja; Crossman, David; Sanna, Serena; Soranzo, Nicole; Markus, Hugh S.; Wareham, Nicholas J.; Rader, Daniel J.; Reilly, Muredach; Assimes, Themistocles; Harris, Tamara B.; Hofman, Albert; Franco, Oscar H.; Gudnason, Vilmundur; Tracy, Russell; Psaty, Bruce M.; Farrall, Martin; Watkins, Hugh; Hall, Alistair S.; Samani, Nilesh J.; März, Winfried; Clarke, Robert; Collins, Rory; Kooner, Jaspal S.; Chambers, John C.; Kathiresan, Sekar; McPherson, Ruth; Erdmann, Jeanette; Kastrati, Adnan; Schunkert, Heribert; Stefánsson, Kári; Thorsteinsdottir, Unnur; Walston, Jeremy D.; Tybjærg-Hansen, Anne; Alam, Dewan S.; Al Shafi Majumder, Abdullah; Angelantonio, Emanuele Di; Chowdhury, Rajiv; Nordestgaard, Børge G.; Saleheen, Danish; Thompson, Simon G.; Danesh, John; Houlston, Richard S.

    2015-01-01

    To investigate potential cardiovascular and other effects of long-term pharmacological interleukin 1 (IL-1) inhibition, we studied genetic variants that produce inhibition of IL-1, a master regulator of inflammation. Methods: We created a genetic score combining the effects of alleles of two common

  2. Dispatching Plan Based on Route Optimization Model Considering Random Wind for Aviation Emergency Rescue

    Directory of Open Access Journals (Sweden)

    Ming Zhang

    2016-01-01

    Full Text Available Aviation emergency rescue is an effective means of nature disaster relief that is widely used in many countries. The dispatching plan of aviation emergency rescue guarantees the efficient implementation of this relief measure. The conventional dispatching plan that does not consider random wind factors leads to a nonprecise quick-responsive scheme and serious safety issues. In this study, an aviation emergency rescue framework that considers the influence of random wind at flight trajectory is proposed. In this framework, the predicted wind information for a disaster area is updated by using unscented Kalman filtering technology. Then, considering the practical scheduling problem of aircraft emergency rescue at present, a multiobjective model is established in this study. An optimization model aimed at maximizing the relief supply satisfaction, rescue priority satisfaction, and minimizing total rescue flight distance is formulated. Finally, the transport times of aircraft with and without the influence of random wind are analyzed on the basis of the data of an earthquake disaster area. Results show that the proposed dispatching plan that considers the constraints of updated wind speed and direction is highly applicable in real operations.

  3. Pervasive Sharing of Genetic Effects in Autoimmune Disease

    NARCIS (Netherlands)

    Cotsapas, Chris; Voight, Benjamin F.; Rossin, Elizabeth; Lage, Kasper; Neale, Benjamin M.; Wallace, Chris; Abecasis, Goncalo R.; Barrett, Jeffrey C.; Behrens, Timothy; Cho, Judy; De Jager, Philip L.; Elder, James T.; Graham, Robert R.; Gregersen, Peter; Klareskog, Lars; Siminovitch, Katherine A.; van Heel, David A.; Wijmenga, Cisca; Worthington, Jane; Todd, John A.; Hafler, David A.; Rich, Stephen S.; Daly, Mark J.

    2011-01-01

    Genome-wide association (GWA) studies have identified numerous, replicable, genetic associations between common single nucleotide polymorphisms (SNPs) and risk of common autoimmune and inflammatory (immune-mediated) diseases, some of which are shared between two diseases. Along with epidemiological

  4. Coordinated action in a heterogeneous rescue team

    NARCIS (Netherlands)

    F. Alnajar; H. Nijhuis; A. Visser

    2009-01-01

    In this paper we describe a new approach to make use of a heterogeneous robot team for the RoboCup Rescue League Virtual Robot competition. We will demonstrate coordinated action between a flying and a ground robot. The flying robot is used for fast exploration and allows the operator to find the pl

  5. Combat Search and Rescue in Desert Storm

    Science.gov (United States)

    2006-09-01

    65 HH-3–equipped 71st SOS located at Davis-Monthan AFB, Ari- zona . This was a first-class unit, which had traditionally trained hard to include...briefed that if they were near the water when hit, they were to go “feet wet ” to vastly increase the odds of a successful rescue. The reason was

  6. Emergency Medical Rescue in a Radiation Environment

    Energy Technology Data Exchange (ETDEWEB)

    Briesmeister, L.; Ellington, Y.; Hollis, R.; Kunzman, J.; McNaughton, M.; Ramsey, G.; Somers, B.; Turner, A.; Finn, J.

    1999-09-14

    Previous experience with emergency medical rescues in the presence of radiation or contamination indicates that the training provided to emergency responders is not always appropriate. A new course developed at Los Alamos includes specific procedures for emergency response in a variety of radiological conditions.

  7. Coordinated action in a heterogeneous rescue team

    NARCIS (Netherlands)

    Alnajar, F.; Nijhuis, H.; Visser, A.

    2010-01-01

    In this paper we describe a new approach to make use of a heterogeneous robot team for the RoboCup Rescue League Virtual Robot competition. We will demonstrate coordinated action between a flying and a ground robot. The flying robot is used for fast exploration and allows the operator to find the pl

  8. Rescuing Dogs in the Frederick Community | Poster

    Science.gov (United States)

    Many Frederick National Lab employees have a favorite cause to which they volunteer a significant amount of time. For Dianna Kelly, IT program manager/scientific program analyst, Office of Scientific Operations, and Courtney Kennedy, associate technical project manager, Business Enterprise Systems, that cause is dog rescue.

  9. REM sleep rescues learning from interference.

    Science.gov (United States)

    McDevitt, Elizabeth A; Duggan, Katherine A; Mednick, Sara C

    2015-07-01

    Classical human memory studies investigating the acquisition of temporally-linked events have found that the memories for two events will interfere with each other and cause forgetting (i.e., interference; Wixted, 2004). Importantly, sleep helps consolidate memories and protect them from subsequent interference (Ellenbogen, Hulbert, Stickgold, Dinges, & Thompson-Schill, 2006). We asked whether sleep can also repair memories that have already been damaged by interference. Using a perceptual learning paradigm, we induced interference either before or after a consolidation period. We varied brain states during consolidation by comparing active wake, quiet wake, and naps with either non-rapid eye movement sleep (NREM), or both NREM and REM sleep. When interference occurred after consolidation, sleep and wake both produced learning. However, interference prior to consolidation impaired memory, with retroactive interference showing more disruption than proactive interference. Sleep rescued learning damaged by interference. Critically, only naps that contained REM sleep were able to rescue learning that was highly disrupted by retroactive interference. Furthermore, the magnitude of rescued learning was correlated with the amount of REM sleep. We demonstrate the first evidence of a process by which the brain can rescue and consolidate memories damaged by interference, and that this process requires REM sleep. We explain these results within a theoretical model that considers how interference during encoding interacts with consolidation processes to predict which memories are retained or lost.

  10. EVA crewperson overboard - Simplified rescue aid (SIRA)

    Science.gov (United States)

    Fisher, H. T.

    1990-01-01

    This paper discusses potential roles for extravehicular activity (EVA) in space logistics and the possibilities for a crewperson to become inadvertently detached from the work site. Factors which could cause the detachment will be presented and a rescue technique described. Finally, implications to the design and implementation of space logistics will be portrayed relative to minimizing or eliminating the adrift EVA crewperson possibility.

  11. 中国红十字国际医疗救援分队赴菲律宾医疗救援的经验和探讨%Effects and Discussion on the China Red Cross International Medical Rescue Team in Philippines after typhoon Yolanda

    Institute of Scientific and Technical Information of China (English)

    张开; 姜川; 郭静; 杨慧宁; 王耀伟

    2016-01-01

    目的:总结2013年11月23日中国红十字国际救援队远赴遭台风“海燕”袭击的菲律宾参加救援的特点,探讨海外灾害应急救援模式在救援实践中的作用。方法回顾第一批中国红十字国际救援队一行10人救援过程,以及12月5日武警总医院抽组第二批中国红十字国际医疗救援队在菲律宾的救援情况。分析救援预案下的救援实践效果。结果中国红十字国际医疗救援队抽组急救科、呼吸科、儿科、妇科、骨科、护理等12个临床专业医护人员参与救援。历时22 d,接诊共计2892人,巡诊3990人,卫生宣教及志愿者培训793人,洗消面积54800 m2。圆满完成医疗巡诊、卫生宣教、卫生防疫等工作。结论赴菲律宾台风灾害医疗救援圆满成功;得益于完备的救援预案、统一规划管理;医疗巡诊、卫生宣教和卫生防疫结合;设置引导员,建立专科诊区、志愿者培训;和先期到达的中国海军“和平方舟号”前置医院建立联系,做到两批救援队“无缝交接”。该救援模式在此次海外救援中得到了检验,具有一定的借鉴价值。%Objective According to November 23, 2013 China Red Cross International Rescue Team went to the Philippines where truck by typhoon Yolanda, To explore the role of overseas disaster relief emergency rescue mode. Methods Review the first China Red Cross international rescue team relief process, and the second batch of Chinese Red Cross International Medical Rescue Team rescue the situation in Philippines. Analysis the effect of practice rescue plan under this disaster. Results The China Red Cross International Medical Rescue Team to organize multiple departments of clinical health care professionals involved in this relief.Successful completion of the task, rescue team spent 22 days diagnosis and treatment of 2892 people, medical rounds 3990 people , training 793 volunteers, disinfection area 54800 m2

  12. Effect of framing on the perception of genetic recurrence risks.

    Science.gov (United States)

    Shiloh, S; Sagi, M

    1989-05-01

    Individuals asked to evaluate genetic recurrence risks were found to be influenced by the way the risks were framed. Presenting a single risk figure resulted in overweighting of low probabilities and underweighting of high probabilities, as compared to presenting a list of sequential risks. Differences were also found between meanings attached to verbal expressions of risks when translating from verbal to numerical expressions, and vice versa. The implications of these findings for genetic counseling are discussed.

  13. The Effect of Genetic Polymorphism upon Antineoplastic Sensitivity

    Institute of Scientific and Technical Information of China (English)

    Jun Liang

    2006-01-01

    In clinical practice, patients undergoing chemotherapy display prominent individual differences, adverse reactions and sensitivity to antineoplastic therapy. Those differences are caused by individual genetic polymorphism of related genes. Genetic variation can induce distinct alterations of drug-metabolizing enzymes, drug transporters, drug targets and DNA repair enzymes and thereby influence the ability of the drugs to reach their target sites. This article reviews in detail the potential interactions mentioned above.

  14. Amphetamine-induced sensitization has little effect on multiple learning paradigms and fails to rescue mice with a striatal learning defect.

    Directory of Open Access Journals (Sweden)

    Kiara C Eldred

    Full Text Available Behavioral sensitization to psychostimulants such as amphetamine (AMPH is associated with synaptic modifications that are thought to underlie learning and memory. Because AMPH enhances extracellular dopamine in the striatum where dopamine and glutamate signaling are essential for learning, one might expect that the molecular and morphological changes that occur in the striatum in response to AMPH, including changes in synaptic plasticity, would affect learning. To ascertain whether AMPH sensitization affects learning, we tested wild-type mice and mice lacking NMDA receptor signaling in striatal medium spiny neurons in several different learning tests (motor learning, Pavlovian association, U-maze escape test with strategy shifting with or without prior sensitization to AMPH. Prior sensitization had minimal effect on learning in any of these paradigms in wild-type mice and failed to restore learning in mutant mice, despite the fact that the mutant mice became sensitized by the AMPH treatment. We conclude that the changes in synaptic plasticity and many other signaling events that occur in response to AMPH sensitization are dissociable from those involved in learning the tasks used in our experiments.

  15. Hybrid Genetic Algorithm with PSO Effect for Combinatorial Optimisation Problems

    Directory of Open Access Journals (Sweden)

    M. H. Mehta

    2012-12-01

    Full Text Available In engineering field, many problems are hard to solve in some definite interval of time. These problems known as “combinatorial optimisation problems” are of the category NP. These problems are easy to solve in some polynomial time when input size is small but as input size grows problems become toughest to solve in some definite interval of time. Long known conventional methods are not able to solve the problems and thus proper heuristics is necessary. Evolutionary algorithms based on behaviours of different animals and species have been invented and studied for this purpose. Genetic Algorithm is considered a powerful algorithm for solving combinatorial optimisation problems. Genetic algorithms work on these problems mimicking the human genetics. It follows principle of “survival of the fittest” kind of strategy. Particle swarm optimisation is a new evolutionary approach that copies behaviour of swarm in nature. However, neither traditional genetic algorithms nor particle swarm optimisation alone has been completely successful for solving combinatorial optimisation problems. Here a hybrid algorithm is proposed in which strengths of both algorithms are merged and performance of proposed algorithm is compared with simple genetic algorithm. Results show that proposed algorithm works definitely better than the simple genetic algorithm.

  16. Rescuing loading induced bone formation at senescence.

    Directory of Open Access Journals (Sweden)

    Sundar Srinivasan

    Full Text Available The increasing incidence of osteoporosis worldwide requires anabolic treatments that are safe, effective, and, critically, inexpensive given the prevailing overburdened health care systems. While vigorous skeletal loading is anabolic and holds promise, deficits in mechanotransduction accrued with age markedly diminish the efficacy of readily complied, exercise-based strategies to combat osteoporosis in the elderly. Our approach to explore and counteract these age-related deficits was guided by cellular signaling patterns across hierarchical scales and by the insight that cell responses initiated during transient, rare events hold potential to exert high-fidelity control over temporally and spatially distant tissue adaptation. Here, we present an agent-based model of real-time Ca(2+/NFAT signaling amongst bone cells that fully described periosteal bone formation induced by a wide variety of loading stimuli in young and aged animals. The model predicted age-related pathway alterations underlying the diminished bone formation at senescence, and hence identified critical deficits that were promising targets for therapy. Based upon model predictions, we implemented an in vivo intervention and show for the first time that supplementing mechanical stimuli with low-dose Cyclosporin A can completely rescue loading induced bone formation in the senescent skeleton. These pre-clinical data provide the rationale to consider this approved pharmaceutical alongside mild physical exercise as an inexpensive, yet potent therapy to augment bone mass in the elderly. Our analyses suggested that real-time cellular signaling strongly influences downstream bone adaptation to mechanical stimuli, and quantification of these otherwise inaccessible, transient events in silico yielded a novel intervention with clinical potential.

  17. Serial founder effects and genetic differentiation during worldwide range expansion of monarch butterflies

    Science.gov (United States)

    Pierce, Amanda A.; Zalucki, Myron P.; Bangura, Marie; Udawatta, Milan; Kronforst, Marcus R.; Altizer, Sonia; Haeger, Juan Fernández; de Roode, Jacobus C.

    2014-01-01

    Range expansions can result in founder effects, increasing genetic differentiation between expanding populations and reducing genetic diversity along the expansion front. However, few studies have addressed these effects in long-distance migratory species, for which high dispersal ability might counter the effects of genetic drift. Monarchs (Danaus plexippus) are best known for undertaking a long-distance annual migration in North America, but have also dispersed around the world to form populations that do not migrate or travel only short distances. Here, we used microsatellite markers to assess genetic differentiation among 18 monarch populations and to determine worldwide colonization routes. Our results indicate that North American monarch populations connected by land show limited differentiation, probably because of the monarch's ability to migrate long distances. Conversely, we found high genetic differentiation between populations separated by large bodies of water. Moreover, we show evidence for serial founder effects across the Pacific, suggesting stepwise dispersal from a North American origin. These findings demonstrate that genetic drift played a major role in shaping allele frequencies and created genetic differentiation among newly formed populations. Thus, range expansion can give rise to genetic differentiation and declines in genetic diversity, even in highly mobile species. PMID:25377462

  18. Search and Rescue Plan: Big Stone National Wildlife Refuge

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This plan outlines search and rescue protocols for staff at Big Stone National Wildlife Refuge. The primary concern of a search and rescue policy is the protection...

  19. Chautauqua National Wildlife Refuge : Search and Rescue Plan

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — The Chautauqua National Wildlife Refuge Search and Rescue plan outlines the SAR objectives to carry out or assist in search and rescue on Chautauqua NWR and...

  20. Can phenotypic rescue from harvest refuges buffer wild sheep from selective hunting?

    Science.gov (United States)

    Pelletier, Fanie; Festa-Bianchet, Marco; Jorgenson, Jon T; Feder, Chiarastella; Hubbs, Anne

    2014-09-01

    Human harvests can unwittingly drive evolution on morphology and life history, and these selective effects may be detrimental to the management of natural resources. Although theory suggests that harvest refuges, as sources of unselected animals, could buffer the effects of human exploitation on wild populations, few studies have assessed their efficiency. We analyzed records from >7000 trophy bighorn rams (Ovis canadensis) harvested in Alberta, Canada, between 1974 and 2011 to investigate if the movement of rams from refuges toward harvested areas reduced the effects of selective harvesting on horn size through phenotypic rescue. Rams taken near refuges had horns on average about 3% longer than rams shot far from refuges and were slightly older, suggesting migration from refuges into hunted areas. Rams from areas adjacent to and far from harvest refuges, however, showed similar declines in horn length and increases in age at harvest over time, indicating a decreasing rate of horn growth. Our study suggests that the influx of rams from refuges is not sufficient to mitigate the selective effects of sheep trophy harvest. Instead, we suggest that selective hunting of highly mobile animals may affect the genetic structure of populations that spend part of the year inside protected areas.

  1. Anatomy of a hostage rescue: what makes hostage rescue operations successful?

    OpenAIRE

    Perez, Carlos M.

    2004-01-01

    Approved for public release; distribution is unlimited This thesis develops a theory to determine the best execution time to conduct a hostage rescue attempt. It does so by explaining the phenomenon of a hostage crisis biorhythm and proposing four principles essential for success. The principles of hostage rescue operations presented in this thesis and used in the biorhythm model-surprise, intelligence, operator's skill, and deception-are derived from looking at numerous planning models fr...

  2. Genetic inhibition of CETP, ischemic vascular disease and mortality, and possible adverse effects

    DEFF Research Database (Denmark)

    Johannsen, Trine Holm; Frikke-Schmidt, Ruth; Schou, Jesper;

    2012-01-01

    This study tested whether genetic variation in the CETP gene is consistent with a protective effect of cholesteryl ester transfer protein (CETP) inhibition on risk of ischemic events and on total mortality, without the adverse effects reported for torcetrapib.......This study tested whether genetic variation in the CETP gene is consistent with a protective effect of cholesteryl ester transfer protein (CETP) inhibition on risk of ischemic events and on total mortality, without the adverse effects reported for torcetrapib....

  3. The Influence of Emergency Flowchart to the Effect of Critically Ill Surgical Patients Rescue%急诊流程图对外科危重患者抢救效果影响

    Institute of Scientific and Technical Information of China (English)

    许勇

    2016-01-01

    Objective: To investigate the influence of emergency flowchart to the effect of critically ill surgical patients rescue.Method:120 surgical critically ill patients in our hospital from August 2012 to December 2014 were selected as the research objects. The patients were randomly divided into experimental group and control group,each group had 60 cases.The patients of the experimental group were treated with emergency flowchart, the patients of the control group were treated with routine rescue procedures.Then the patients’mean operative time,survival rate and the satisfaction of the two groups were compared.Result: The patients’mean operative time of the experimental group was (114.6±22.3) min, the control group was (162.5±15.6)min, the experimental group was significantly shorter than the control group, the difference was statistically significant(P<0.05).Thepatients’ survival rate of experimental group was 97.8%, the control group was 72.3%, the experimental group was significantly higher than the control group, the difference was statistically significant(P<0.05). The satisfaction of doctor and patients in the experimental group respectively were 98.5% and 96.3%, the control group respectively were 81.2% and 72.9%, the experimental group were significantly higher than the control group, the differences were statistically significant(P<0.05).Conclusion:The applications of emergency flowchart can optimize the management of surgical critically ill patients, and can improve the efficiency of emergency department nurses.%目的:探讨急诊流程图对外科危重患者抢救效果的影响。方法:选取2012年8月-2014年12月本院收治的120例外科危重患者为研究对象,随机分为试验组与对照组各60例。试验组患者实施急诊流程图进行救治,对照组患者实施常规抢救程序,然后比较两组患者的救治时间、抢救成功率及满意度。结果:试验组患者的平均手术救治时间为(114.6±22

  4. 30 CFR 49.2 - Availability of mine rescue teams.

    Science.gov (United States)

    2010-07-01

    ... 30 Mineral Resources 1 2010-07-01 2010-07-01 false Availability of mine rescue teams. 49.2 Section... TRAINING MINE RESCUE TEAMS § 49.2 Availability of mine rescue teams. (a) Except where alternative... teams which are available at all times when miners are underground; or (2) Enter into an arrangement...

  5. 29 CFR 553.215 - Ambulance and rescue service employees.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 3 2010-07-01 2010-07-01 false Ambulance and rescue service employees. 553.215 Section 553... Protection and Law Enforcement Employees of Public Agencies Exemption Requirements § 553.215 Ambulance and rescue service employees. (a) Ambulance and rescue service employees of a public agency other than a fire...

  6. Moose body mass variation revisited: disentangling effects of environmental conditions and genetics.

    Science.gov (United States)

    Herfindal, Ivar; Haanes, Hallvard; Solberg, Erling J; Røed, Knut H; Høgda, Kjell Arild; Sæther, Bernt-Erik

    2014-02-01

    Large-scale geographical variation in phenotypic traits within species is often correlated to local environmental conditions and population density. Such phenotypic variation has recently been shown to also be influenced by genetic structuring of populations. In ungulates, large-scale geographical variation in phenotypic traits, such as body mass, has been related to environmental conditions and population density, but little is known about the genetic influences. Research on the genetic structure of moose suggests two distinct genetic lineages in Norway, structured along a north-south gradient. This corresponds with many environmental gradients, thus genetic structuring provides an additional factor affecting geographical phenotypic variation in Norwegian moose. We investigated if genetic structure explained geographical variation in body mass in Norwegian moose while accounting for environmental conditions, age and sex, and if it captured some of the variance in body mass that previously was attributed to environmental factors. Genetic structuring of moose was the most important variable in explaining the geographic variation in body mass within age and sex classes. Several environmental variables also had strong explanatory power, related to habitat diversity, environmental seasonality and winter harshness. The results suggest that environmental conditions, landscape characteristics, and genetic structure should be evaluated together when explaining large-scale patterns in phenotypic characters or life history traits. However, to better understand the role of genetic and environmental effects on phenotypic traits in moose, an extended individual-based study of variation in fitness-related characters is needed, preferably in an area of convergence between different genetic lineages.

  7. Evaluating the psychological effects of genetic testing in symptomatic patients: a systematic review.

    Science.gov (United States)

    Vansenne, Fleur; Bossuyt, Patrick M M; de Borgie, Corianne A J M

    2009-10-01

    Most research on the effects of genetic testing is performed in individuals at increased risk for a specific disease (presymptomatic subjects) but not in patients already affected by disease. If results of these studies in presymptomatic subjects can be applied to patients is unclear. We performed a systematic review to evaluate the effects of genetic testing in patients and describe the methodological instruments used. About 2611 articles were retrieved and 16 studies included. Studies reported great variety in designs, methods, and patient outcomes. In total, 2868 participants enrolled of which 62% were patients. Patients appeared to have a lower perceived general health and higher levels of anxiety and depression than presymptomatic subjects before genetic testing. In the long term no psychological impairment was shown. We conclude that patients differ from presymptomatic subjects and may be more vulnerable to negative effects of genetic testing. Conclusions from earlier research on presymptomatic genetic testing cannot be generalized to patients, and more standardized research is needed.

  8. Early environmental therapy rescues brain development in a mouse model of Down syndrome.

    Science.gov (United States)

    Begenisic, Tatjana; Sansevero, Gabriele; Baroncelli, Laura; Cioni, Giovanni; Sale, Alessandro

    2015-10-01

    Down syndrome (DS), the most common genetic disorder associated with intellectual disabilities, is an untreatable condition characterized by a number of developmental defects and permanent deficits in the adulthood. Ts65Dn mice, the major animal model for DS, display severe cognitive and synaptic plasticity defects closely resembling the human phenotype. Here, we employed a multidisciplinary approach to investigate, for the first time in developing Ts65Dn mice, the effects elicited by early environmental enrichment (EE) on brain maturation and function. We report that exposure to EE resulted in a robust increase in maternal care levels displayed by Ts65Dn mothers and led to a normalization of declarative memory abilities and hippocampal plasticity in trisomic offspring. The positive effects of EE on Ts65Dn phenotype were not limited to the cognitive domain, but also included a rescue of visual system maturation. The beneficial EE effects were accompanied by increased BDNF and correction of over-expression of the GABA vesicular transporter vGAT. These findings highlight the beneficial impact of early environmental stimuli and their potential for application in the treatment of major functional deficits in children with DS.

  9. [Exploration for effective teaching methods to promote students' learning interest in genetics experiment].

    Science.gov (United States)

    Xiao, Jianfu; Shi, Chunhai

    2014-02-01

    The students' interest in genetic experiments was promoted effectively by adding more genetic projects with research or autonomous selections, adopting the vivid and interesting case and problem-based teaching methods, using the teaching philosophy of diversity to design experimental teaching tools, and taking other comprehensive teaching methods.

  10. Genetic and environmental effects on body mass index from infancy to the onset of adulthood

    DEFF Research Database (Denmark)

    Silventoinen, Karri; Jelenkovic, Aline; Sund, Reijo

    2016-01-01

    Background: Both genetic and environmental factors are known to affect body mass index (BMI), but detailed understanding of how their effects differ during childhood and adolescence is lacking. Objectives: We analyzed the genetic and environmental contributions to BMI variation from infancy to ea...

  11. Effects of genotype x environment interaction on genetic gain in breeding programs

    NARCIS (Netherlands)

    Mulder, H.A.; Bijma, P.

    2005-01-01

    Genotype x environment interaction (G x E) is increasingly important, because breeding programs tend to be more internationally oriented. The aim of this theoretical study was to investigate the effects of G x E on genetic gain in sib-testing and progeny-testing schemes. Loss of genetic gain due to

  12. Genetic effects of habitat fragmentation and population isolation on Etheostoma raneyi (Percidae)

    Science.gov (United States)

    Ken A. Sterling; David H. Reed; Brice P. Noonan; Melvin L. Warren

    2012-01-01

    The use of genetic methods to quantify the effects of anthropogenic habitat fragmentation on population structure has become increasingly common. However, in today’s highly fragmented habitats, researchers have sometimes concluded that populations are currently genetically isolated due to habitat fragmentation without testing the possibility that populations were...

  13. Effect of domestication on the genetic diversity and structure of Saccharina japonica populations in China

    Science.gov (United States)

    Zhang, Jie; Wang, Xiuliang; Yao, Jianting; Li, Qiuying; Liu, Fuli; Yotsukura, Norishige; Krupnova, Tatiana N.; Duan, Delin

    2017-01-01

    Saccharina japonica is a commercially and ecologically important seaweed and is an excellent system for understanding the effects of domestication on marine crops. In this study, we used 19 selected simple sequence repeat (SSR) markers to investigate the influence of domestication on the genetic diversity and structure of S. japonica populations. Wild kelp populations exhibited higher genetic diversity than cultivated populations based on total NA, HE, HO, NP and AR. Discriminant analysis of principal components (DAPC), a neighbour-joining (NJ) tree and STRUCTURE analyses indicated that S. japonica populations could be divided into two groups (a cultivated/introduced group and a wild indigenous group) with significant genetic differentiation (P < 0.0001). Divergent selection, continuous inbreeding and inter-specific hybridization have caused the divergence of these two genetically separate gene pools. The significant genetic differentiation between northern and southern cultivated populations appears to be due to inter-specific hybridization and wild germplasm introduction during the domestication process. In addition, the cultivation of S. japonica has not resulted in any serious genetic disturbance of wild introduced S. japonica populations. An understanding of the genetic diversity and genetic structure of domesticated S. japonica will be necessary for further genetic improvement and effective use of germplasm. PMID:28176848

  14. Invited commentary: rescuing Robinson Crusoe.

    Science.gov (United States)

    Oakes, J Michael

    2008-07-01

    Estimating the independent effect of "place" on health outcomes has proven quite difficult. In this issue of the Journal, Auchincloss and Diez Roux contribute a lucid introduction to agent-based simulation models and argue that they may be a fruitful alternative to current approaches to the problem. Insofar as conceptual understanding must precede empirical investigation, this author agrees. Given the obvious shortcoming of pure simulations, the key benefit of agent-based models lies in their ability to alter our thinking and/or theory. Among other things, the approach permits analysts to model (i.e., conceptualize) system dynamics, more realistic social treatment effects, endogenous contexts, and a more congenial image of human behavior.

  15. Quantifying effects of environmental and geographical factors on patterns of genetic differentiation.

    Science.gov (United States)

    Lee, Cheng-Ruei; Mitchell-Olds, Thomas

    2011-11-01

    Elucidating the factors influencing genetic differentiation is an important task in biology, and the relative contribution from natural selection and genetic drift has long been debated. In this study, we used a regression-based approach to simultaneously estimate the quantitative contributions of environmental adaptation and isolation by distance on genetic variation in Boechera stricta, a wild relative of Arabidopsis. Patterns of discrete and continuous genetic differentiation coexist within this species. For the discrete differentiation between two major genetic groups, environment has larger contribution than geography, and we also identified a significant environment-by-geography interaction effect. Elsewhere in the species range, we found a latitudinal cline of genetic variation reflecting only isolation by distance. To further confirm the effect of environmental selection on genetic divergence, we identified the specific environmental variables predicting local genotypes in allopatric and sympatric regions. Water availability was identified as the possible cause of differential local adaptation in both geographical regions, confirming the role of environmental adaptation in driving and maintaining genetic differentiation between the two major genetic groups. In addition, the environment-by-geography interaction is further confirmed by the finding that water availability is represented by different environmental factors in the allopatric and sympatric regions. In conclusion, this study shows that geographical and environmental factors together created stronger and more discrete genetic differentiation than isolation by distance alone, which only produced a gradual, clinal pattern of genetic variation. These findings emphasize the importance of environmental selection in shaping patterns of species-wide genetic variation in the natural environment.

  16. Semi-domesticated and Irreplaceable Genetic Resource Gayal ( Needs Effective Genetic Conservation in Bangladesh: A Review

    Directory of Open Access Journals (Sweden)

    Md. Rasel Uzzaman

    2014-09-01

    Full Text Available Several studies arduously reported that gayal (Bos frontalis is an independent bovine species. The population size is shrinking across its distribution. In Bangladesh, it is the only wild relative of domestic cattle and also a less cared animal. Their body size is much bigger than Bangladeshi native cattle and has prominent beef type characters along with the ability to adjust in any adverse environmental conditions. Human interactions and manipulation of biodiversity is affecting the habitats of gayals in recent decades. Besides, the only artificial reproduction center for gayals, Bangladesh Livestock Research Institute (BLRI, has few animals and could not carry out its long term conservation scheme due to a lack of an objective based scientific mission as well as financial support. This indicates that the current population is much more susceptible to stochastic events which might be natural catastrophes, environmental changes or mutations. Further reduction of the population size will sharply reduce genetic diversity. In our recent investigation with 80K indicine single nucleotide polymorphism chip, the FIS (within-population inbreeding value was reported as 0.061±0.229 and the observed (0.153±0.139 and expected (0.148±0.143 heterozygosities indicated a highly inbred and less diverse gayal population in Bangladesh. Prompt action is needed to tape the genetic information of this semi-domesticated bovine species with considerable sample size and try to investigate its potentials together with native zebu cattle for understanding the large phenotypic variations, improvement and conservation of this valuable creature.

  17. Genetic mapping of quantitative trait loci (QTLs) with effects on ...

    African Journals Online (AJOL)

    SERVER

    2008-02-05

    Feb 5, 2008 ... 2Department of Crop Protection and Environmental Biology, ... identify genetic loci associated with the expression of resistance to FTh. ... indicated that resistance to FTh may be controlled by ... population or to pyramid resistance into new populations. .... environment and human health (Eigenbrode and.

  18. Cost-effectiveness of genetic studies in inherited heart diseases

    Directory of Open Access Journals (Sweden)

    María Sabater-Molina

    2013-05-01

    Full Text Available There is a need to evidence the cost of genetic testing and know their profitability in order to establish criteria for priorizing access to genetic testing for these diseases. We determinated the cost per positive genotyping in 234 index cases with diagnosis of hypertrophic cardiomyopathy (HCM, arrhythmogenic right ventricular cardiomyopathy (ARVC, long-QT syndrome (LQTS, or Brugada syndrome (BS. The genetic tests of the most prevalent genes and the estimation of the costs of periodical screening in wildtype relatives (WT were calculated. A total of 738 individuals (517 HCM, 76 ARVC, 71 LQTS and 74 BS from 234 probands were genotyped. The savings made by not having to perform the clinical testing of WT relatives exceeded the cost of genotyping for HCM families € +220,710, ARVC families € +9405 and LQTS families € +8362. The balance in BS was negative (€ –25,112. Our data suggests that individuals with conclusive clinical diagnostic of HCM should have a priority to access genetic testing. A positive overall benefit was also demonstrated in ARVC and LQTS.

  19. Effect of diets containing genetically modified potatoes expressing Galanthus nivalis lectin on rat small intestine.

    Science.gov (United States)

    Ewen, S W; Pusztai, A

    1999-10-16

    Diets containing genetically modified (GM) potatoes expressing the lectin Galanthus nivalis agglutinin (GNA) had variable effects on different parts of the rat gastrointestinal tract. Some effects, such as the proliferation of the gastric mucosa, were mainly due to the expression of the GNA transgene. However, other parts of the construct or the genetic transformation (or both) could also have contributed to the overall biological effects of the GNA-GM potatoes, particularly on the small intestine and caecum.

  20. Marine Search, Rescue and Emergency Preparedness Study.

    Science.gov (United States)

    1975-09-01

    System - David L. Neasham, District Ranger Lahonton State Recreation Area: same as above, AbiqLu Dam. COE - Lymor E. Reynolds , Res. Supt. Cochita Lake... Jessie York, 501 Broad, Sheffield, Al. Day phone: 383-0524 COORDINATOR: Fred Mauldin, Cherokee Rescue Squad, Cherokee, Al. 359-4991 HOSPITAL! Colbert Co...Village 1, Sheffield, Ala. 35660 383-4464 1 SHERIFF: Colbert County Sheriff or Lauderdale County Sheriff CORONOR: Jessie York, Sheffield, Ala. 35660

  1. Retrospective analysis of main and interaction effects in genetic association studies of human complex traits

    DEFF Research Database (Denmark)

    Tan, Qihua; Christiansen, Lene; Brasch-Andersen, Charlotte;

    2007-01-01

    BACKGROUND: The etiology of multifactorial human diseases involves complex interactions between numerous environmental factors and alleles of many genes. Efficient statistical tools are demanded in identifying the genetic and environmental variants that affect the risk of disease development....... This paper introduces a retrospective polytomous logistic regression model to measure both the main and interaction effects in genetic association studies of human discrete and continuous complex traits. In this model, combinations of genotypes at two interacting loci or of environmental exposure...... regression model can be used as a convenient tool for assessing both main and interaction effects in genetic association studies of human multifactorial diseases involving genetic and non-genetic factors as well as categorical or continuous traits....

  2. Big Data Cognition for City Emergency Rescue

    Science.gov (United States)

    Zhang, Xin; Chen, Yongxin; Wang, Weisheng

    2016-11-01

    There are many kinds of data produced in the city daily life, which operates as an elementary component of the citizen life support system. The city unexpected incidents occurs in a seemingly unpredictable patterns. With the Big Data analysis the emergency rescue can be carried out efficiently. In this paper, the Big Data cognition for city emergency rescue is studied from four perspectives. From the data volume perspective, the spatial data analysis technology is divided into two parts, the indoor data and the outdoor data. From the data velocity perspective, the big data is collected from the eyes in the sky and objects on-the-ground networks, together with demographic data. From the data variety analysis perspective, the population distribution data, the socio-economic data and model estimates are included. From the data value mining perspective, the crime model estimates are studied. In the end, the application in the big public venues emergency rescue is introduced, which is located in Urumqi, Xinjiang, China.

  3. GESP: A computer program for modeling genetic effective population size, inbreeding, and divergence in substructured populations.

    Science.gov (United States)

    Olsson, Fredrik; Laikre, Linda; Hössjer, Ola; Ryman, Nils

    2017-03-24

    The genetically effective population size (Ne) is of key importance for quantifying rates of inbreeding and genetic drift, and is often used in conservation management to set targets for genetic viability. The concept was developed for single, isolated populations and the mathematical means for analyzing the expected Ne in complex, subdivided populations have previously not been available. We recently developed such analytical theory and central parts of that work have now been incorporated into a freely available software tool presented here. GESP (Genetic Effective population size, inbreeding, and divergence in Substructured Populations) is R-based and designed to model short and long term patterns of genetic differentiation and effective population size of subdivided populations. The algorithms performed by GESP allow exact computation of global and local inbreeding and eigenvalue effective population size, predictions of genetic divergence among populations (GST) as well as departures from random mating (FIS, FIT) while varying i) subpopulation census and effective size, separately or including trend of the global population size, ii) rate and direction of migration between all pairs of subpopulations, iii) degree of relatedness and divergence among subpopulations, iv) ploidy (haploid or diploid), and v) degree of selfing. Here, we describe GESP and exemplify its use in conservation genetics modeling. This article is protected by copyright. All rights reserved.

  4. Economic methods for valuing the outcomes of genetic testing: beyond cost-effectiveness analysis.

    Science.gov (United States)

    Grosse, Scott D; Wordsworth, Sarah; Payne, Katherine

    2008-09-01

    Genetic testing in health care can provide information to help with disease prediction, diagnosis, prognosis, and treatment. Assessing the clinical utility of genetic testing requires a process to value and weight different outcomes. This article discusses the relative merits of different economic measures and methods to inform recommendations relative to genetic testing for risk of disease, including cost-effectiveness analysis and cost-benefit analysis. Cost-effectiveness analyses refer to analyses that calculate the incremental cost per unit of health outcomes, such as deaths prevented or life-years saved because of some intervention. Cost-effectiveness analyses that use preference-based measures of health state utility such as quality-adjusted life-years to define outcomes are referred to as cost-utility analyses. Cost-effectiveness analyses presume that health policy decision makers seek to maximize health subject to resource constraints. Cost-benefit analyses can incorporate monetary estimates of willingness-to-pay for genetic testing, including the perceived value of information independent of health outcomes. These estimates can be derived from contingent valuation or discrete choice experiments. Because important outcomes of genetic testing do not fit easily within traditional measures of health, cost-effectiveness analyses do not necessarily capture the full range of outcomes of genetic testing that are important to decision makers and consumers. We recommend that health policy decision makers consider the value to consumers of information and other nonhealth attributes of genetic testing strategies.

  5. Refuge Management Program Part 3 : Search and Rescue Plan : Horicon National Wildlife Refuge, Fox River National Wildlife Refuge, Wilderness Islands

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — An effective search and rescue plan is required for Horicon NWR due to the diversity of activities open to the general public, the large expanse of isolated wetlands...

  6. Genetic and familial environmental effects on suicide attempts

    DEFF Research Database (Denmark)

    Petersen, Liselotte; Sørensen, Thorkild; Kragh Andersen, Per;

    2014-01-01

    who attempted suicide compared to siblings of adoptees with no suicide attempts. METHOD: We used a random sample of 1933 adoptees from the Danish Adoption Register, a register of non-familial adoptions of Danish children, i.e. the adoptive parents are biologically unrelated to the adoptee. Analyses......OBJECTIVES: Genetic factors have been found to influence the risk of suicide. It is less clear if this also applies to attempted suicide. We have investigated genetic and familial environmental factors by studying the occurrence of suicide attempts in biological and adoptive siblings of adoptees...... were conducted on incidence rates of attempted suicide in biological and adoptive siblings given occurrence of attempted suicide in the adoptees while also taking into account psychiatric disorders. Information about suicidal attempt and history of psychiatric disorder was based on hospital admissions...

  7. Pervasive Sharing of Genetic Effects in Autoimmune Disease

    DEFF Research Database (Denmark)

    Cotsapas, Chris; Voight, Benjamin F.; Rossin, Elizabeth

    2011-01-01

    Genome-wide association (GWA) studies have identified numerous, replicable, genetic associations between common single nucleotide polymorphisms (SNPs) and risk of common autoimmune and inflammatory (immune-mediated) diseases, some of which are shared between two diseases. Along with epidemiological...... and clinical evidence, this suggests that some genetic risk factors may be shared across diseases-as is the case with alleles in the Major Histocompatibility Locus. In this work we evaluate the extent of this sharing for 107 immune disease-risk SNPs in seven diseases: celiac disease, Crohn's disease, multiple......-mediated disease risk SNPs are associated to multiple-but not all-immune-mediated diseases (SNP-wise P-CPMA...

  8. Rescue of tau-induced synaptic transmission pathology by paclitaxel

    Directory of Open Access Journals (Sweden)

    Hdas eErez

    2014-02-01

    Full Text Available Behavioral and electrophysiological studies of Alzheimer’s disease (AD and other tauopathies have revealed that the onset of cognitive decline correlates better with synaptic dysfunctions than with hallmark pathologies such as extracellular amyloid-β plaques, intracellular hyperphosphorylated tau or neuronal loss. Recent experiments have also demonstrated that anti-cancer microtubule-stabilizing drugs can rescue tau-induced behavioral decline and hallmark neuron pathologies. Nevertheless, the mechanisms underlying tau-induced synaptic dysfunction as well as those involved in the rescue of cognitive decline by microtubules stabilizing drugs remain unclear. Here we began to study these mechanisms using the glutaminergic sensory-motoneuron synapse derived from Aplysia ganglia, electrophysiological methods, the expression of mutant-human-tau (mt-htau either pre- or post-synaptically and the antimitotic drug paclitaxel. Expression of mt-htau in the presynaptic neurons led to reduced excitatory postsynaptic potential (EPSP amplitude generated by rested synapses within 3 days of mt-htau expression, and to deeper levels of homosynaptic depression. mt-htau-induced synaptic weakening correlated with reduced releasable presynaptic vesicle pools as revealed by the induction of asynchronous neurotransmitter release by hypertonic sucrose solution. Paclitaxel totally rescued tau-induced synaptic weakening by maintaining the availability of the presynaptic vesicle stores. Postsynaptic expression of mt-htau did not impair the above described synaptic-transmission parameters for up to 5 days. Along with earlier confocal microscope observations from our laboratory, these findings suggest that tau-induced synaptic dysfunction is the outcome of impaired axoplasmic transport and the ensuing reduction in the releasable presynaptic vesicle stores rather than the direct effects of mt-htau or paclitaxel on the synaptic release mechanisms.

  9. Vitamin D status in primary hyperparathyroidism: effect of genetic background.

    Science.gov (United States)

    Battista, Claudia; Guarnieri, Vito; Carnevale, Vincenzo; Baorda, Filomena; Pileri, Mauro; Garrubba, Maria; Salcuni, Antonio S; Chiodini, Iacopo; Minisola, Salvatore; Romagnoli, Elisabetta; Eller-Vainicher, Cristina; Santini, Stefano A; Parisi, Salvatore; Frusciante, Vincenzo; Fontana, Andrea; Copetti, Massimiliano; Hendy, Geoffrey N; Scillitani, Alfredo; Cole, David E C

    2017-01-01

    Primary hyperparathyroidism (PHPT) is associated with hypovitaminosis D as assessed by serum total 25-hydroxyvitamin D (TotalD) levels. The aim of this study is to evaluate whether this is also the case for the calculated bioavailable 25-hydroxyvitamin D (BioD) or free 25-hydroxyvitamin D (FreeD), and whether the vitamin D status is influenced by genetic background. We compared vitamin D status of 88 PHPT patients each with a matched healthy family member sharing genetic background, i.e., first-degree relative (FDR), or not, namely an in-law relative (ILR). We compared TotalD and vitamin D-binding protein (DBP), using the latter to calculate BioD and FreeD. We also genotyped two common DBP polymorphisms (rs7041 and rs4588) likely to affect the affinity for and levels of vitamin D metabolites. TotalD was lower (p < 0.001) in PHPT (12.3 ± 6.6 ng/mL) than either family member group (FDR: 19.4 ± 12.1 and ILR: 23.2 ± 14.1), whether adjusted for DBP or not. DBP levels were also significantly lower (p < 0.001) in PHPT (323 ± 73 mg/L) versus FDR (377 ± 98) or ILR (382 ± 101). The differences between PHPT and control groups for TotalD, BioD, and FreeD were maintained after adjustment for season, gender, and serum creatinine. 25-hydroxyvitamin D, evaluated as total, free, or bioavailable fractions, is decreased in PHPT. No difference was seen between first-degree relative and in-law controls, suggesting that neither genetic nor non-genetic background greatly influences the genesis of the hypovitaminosis D seen in PHPT.

  10. Effects of genetic and non-genetic factors on growth traits of high yielding dairy seed calves and genetic parameter estimates

    Directory of Open Access Journals (Sweden)

    Syed Mohammad Ashiqur Rahman

    2015-12-01

    Full Text Available The study was conducted to know the effects of several genetic and non-genetic factors like season, sex, year of birth, genotype of calves and milk yield of dam associated with growth performance of crossbred calves. Data were collected from registered farmers during the period of May, 2011 to April, 2013. Birth weight, three-month weight, six-month weight, weaning weight and heritability estimates of those growth performances were performed using a total of 82 registered calves which had pedigree information having the genotypes of 25% Local - 75% Friesian and 37.5% Local - 62.5% Friesian. The average birth, three-month, six-month and weaning weight of calves were 29.33, 64.32, 99.06 and 151.77 kg, respectively. The effects of non-genetic factors like sex, season of birth and genotype were non-significant (P>0.05 for the traits birth weight, three-month, six-month, weaning weight and average daily gain of calves. However, year of birth was found significant on birth (P0.05 on weaning weight and average daily gain of calves. The heritability estimates were 0.40±0.09, 0.46±0.08, 0.39±0.12 and 0.50±0.12 for the traits birth weight, three-month weight, six-month weight and weaning weight, respectively. Estimated heritabilities of live weights suggest that individual own performance basis selection would be more effective for increasing growth and therefore, should be paid more emphasis in cattle improvement program.

  11. The effects of stress and sex on selection, genetic covariance, and the evolutionary response.

    Science.gov (United States)

    Holman, L; Jacomb, F

    2017-08-01

    The capacity of a population to adapt to selection (evolvability) depends on whether the structure of genetic variation permits the evolution of fitter trait combinations. Selection, genetic variance and genetic covariance can change under environmental stress, and males and females are not genetically independent, yet the combined effects of stress and dioecy on evolvability are not well understood. Here, we estimate selection, genetic (co)variance and evolvability in both sexes of Tribolium castaneum flour beetles under stressful and benign conditions, using a half-sib breeding design. Although stress uncovered substantial latent heritability, stress also affected genetic covariance, such that evolvability remained low under stress. Sexual selection on males and natural selection on females favoured a similar phenotype, and there was positive intersex genetic covariance. Consequently, sexual selection on males augmented adaptation in females, and intralocus sexual conflict was weak or absent. This study highlights that increased heritability does not necessarily increase evolvability, suggests that selection can deplete genetic variance for multivariate trait combinations with strong effects on fitness, and tests the recent hypothesis that sexual conflict is weaker in stressful or novel environments. © 2017 European Society For Evolutionary Biology. Journal of Evolutionary Biology © 2017 European Society For Evolutionary Biology.

  12. Gene-Environment Interactions in Asthma: Genetic and Epigenetic Effects.

    Science.gov (United States)

    Lee, Jong-Uk; Kim, Jeong Dong; Park, Choon-Sik

    2015-07-01

    Over the past three decades, a large number of genetic studies have been aimed at finding genetic variants associated with the risk of asthma, applying various genetic and genomic approaches including linkage analysis, candidate gene polymorphism studies, and genome-wide association studies (GWAS). However, contrary to general expectation, even single nucleotide polymorphisms (SNPs) discovered by GWAS failed to fully explain the heritability of asthma. Thus, application of rare allele polymorphisms in well defined phenotypes and clarification of environmental factors have been suggested to overcome the problem of 'missing' heritability. Such factors include allergens, cigarette smoke, air pollutants, and infectious agents during pre- and post-natal periods. The first and simplest interaction between a gene and the environment is a candidate interaction of both a well known gene and environmental factor in a direct physical or chemical interaction such as between CD14 and endotoxin or between HLA and allergens. Several GWAS have found environmental interactions with occupational asthma, aspirin exacerbated respiratory disease, tobacco smoke-related airway dysfunction, and farm-related atopic diseases. As one of the mechanisms behind gene-environment interaction is epigenetics, a few studies on DNA CpG methylation have been reported on subphenotypes of asthma, pitching the exciting idea that it may be possible to intervene at the junction between the genome and the environment. Epigenetic studies are starting to include data from clinical samples, which will make them another powerful tool for re-search on gene-environment interactions in asthma.

  13. Pervasive sharing of genetic effects in autoimmune disease.

    Directory of Open Access Journals (Sweden)

    Chris Cotsapas

    2011-08-01

    Full Text Available Genome-wide association (GWA studies have identified numerous, replicable, genetic associations between common single nucleotide polymorphisms (SNPs and risk of common autoimmune and inflammatory (immune-mediated diseases, some of which are shared between two diseases. Along with epidemiological and clinical evidence, this suggests that some genetic risk factors may be shared across diseases-as is the case with alleles in the Major Histocompatibility Locus. In this work we evaluate the extent of this sharing for 107 immune disease-risk SNPs in seven diseases: celiac disease, Crohn's disease, multiple sclerosis, psoriasis, rheumatoid arthritis, systemic lupus erythematosus, and type 1 diabetes. We have developed a novel statistic for Cross Phenotype Meta-Analysis (CPMA which detects association of a SNP to multiple, but not necessarily all, phenotypes. With it, we find evidence that 47/107 (44% immune-mediated disease risk SNPs are associated to multiple-but not all-immune-mediated diseases (SNP-wise P(CPMA<0.01. We also show that distinct groups of interacting proteins are encoded near SNPs which predispose to the same subsets of diseases; we propose these as the mechanistic basis of shared disease risk. We are thus able to leverage genetic data across diseases to construct biological hypotheses about the underlying mechanism of pathogenesis.

  14. Effects of genetic engineering on the pharmacokinetics of antibodies

    Energy Technology Data Exchange (ETDEWEB)

    Colcher, D.; Goel, A.; Pavlinkova, G.; Beresford, G.; Booth, B.; Batra, S.K. [University of Nebraska Medical Center, Omaha NE (United States). Dept. of Pathology and Microbiology and Molecular Biology

    1999-06-01

    Monoclonal antibodies (MAbs) may be considered 'magic bullets' due to their ability to recognize and eradicate malignant cells. MAbs, however, have practical limitations for their rapid application in the clinics. The structure of the antibody molecules can be engineered to modify functional domains such as antigen-binding sites and/or effectors functions. Advanced in genetic engineering have provided rapid progress the development of new immunoglobulin constructs of MAbs with defined research and therapeutic application. Recombinant antibody constructs are being engineered, such as human mouse chimeric, domain-dispositioned, domain-deleted, humanized and single-chain Fv fragments. Genetically-engineered antibodies differ in size and rate of catabolism. Pharmacokinetics studies show that the intact IgG (150 kD), enzymatically derived fragments Fab' (50 kD) and single chain Fv (28 kD) have different clearance rates. These antibody forms clear 50% from the blood pool in 2.1 days, 30 minutes and 10 minutes, respectively. Genetically-engineered antibodies make a new class of immunotherapeutic tracers for cancer treatment.

  15. The maternal-effect, selfish genetic element Medea is associated with a composite Tc1 transposon.

    Science.gov (United States)

    Lorenzen, Marcé D; Gnirke, Andreas; Margolis, Jonathan; Garnes, Jeffrey; Campbell, Margie; Stuart, Jeffrey J; Aggarwal, Rajat; Richards, Stephen; Park, Yoonseong; Beeman, Richard W

    2008-07-22

    Maternal-Effect Dominant Embryonic Arrest ("Medea") factors are selfish nuclear elements that combine maternal-lethal and zygotic-rescue activities to gain a postzygotic survival advantage. We show that Medea(1) activity in Tribolium castaneum is associated with a composite Tc1 transposon inserted just downstream of the neurotransmitter reuptake symporter bloated tubules (blot), whose Drosophila ortholog has both maternal and zygotic functions. The 21.5-kb insertion contains defective copies of elongation initiation factor-3, ATP synthase subunit C, and an RNaseD-related gene, as well as a potentially intact copy of a prokaryotic DUF1703 gene. Sequence comparisons suggest that the current distribution of Medea(1) reflects global emanation after a single transpositional event in recent evolutionary time. The Medea system in Tribolium represents an unusual type of intragenomic conflict and could provide a useful vehicle for driving desirable genes into populations.

  16. Effects of green track in rescuing patients with acute craniocerebral trauma%绿色通道救治急性中重度颅脑损伤的预后分析

    Institute of Scientific and Technical Information of China (English)

    关宇光; 田振彪

    2012-01-01

    目的 论证绿色通道在抢救中重度颅脑损伤,降低病死率中的作用.方法 回顾性分析176例通过绿色通道抢救的中重度颅脑损伤患者,分析现场救援、早期治疗、早期手术对急性中重度颅脑损伤预后的相关性及影响.结果 在绿色通道救治的患者中恢复良好76例(43.2%),中残46例(26.1%),重残21例(11.9%),植物生存9例(5.1%),死亡24例(13.6%).早期治疗(≤1 h)、早期手术(≤2 h)组预后明显好于对照组(P<0.05).结论 绿色通道在抢救中重度颅脑损伤的患者中,对缩短救治时间、提高治愈率、减少并发症、降低病死率有重要作用.%Objective To explore the efficacy of first aid green track in rescuing the patients with acute moderate or severe craniocerebral trauma. Methods The clinical data of 176 patients with acute severe craniocerebral trauma who underwent emergency treatment through green track, including pre-hospital emergency, early treatment, and early surgery were retrospectively analyzed. The Glasgow Outcome Scale (GOS) was used to evaluate the prognosis. Results 76 patients (43.2%) recovered well, 46 patients (26.1%) suffered from moderate disability, 21 patients (11.9%) still showed severe disability, 9 patients (5.1%) lived in vegetative state, and 24 patients (13.6% ) died. The prognosis was significantly better among the patients who received treatment ≤1 h after the onset of disease and those who underwent surgery ≤2 h after the onset of disease in comparison with those who received treatment ≤ 1 h and those who underwent surgery ≤ 2 h after the onset of disease (both P < 0.05). Conclusion Timely and effective pre-hospital emergency, early treatment and early surgery improve the survival rate of the patients with acute medium or severe craniocerebral trauma.

  17. Predicting the effect of naltrexone and acamprosate in alcohol-dependent patients using genetic indicators

    NARCIS (Netherlands)

    Ooteman, W.; Naassila, M.; Koeter, M.W.J.; Verheul, R.; Schippers, G.M.; Houchi, H.; Daoust, M.; van den Brink, W.

    2009-01-01

    Acamprosate and naltrexone are effective medications in the treatment of alcoholism. However. effect sizes are modest. Pharmacogenomics may improve patient-treatment-matching and effect sizes. It is hypothesized that naltrexone exerts its effect through genetic characteristics associated with the do

  18. The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.

    Science.gov (United States)

    Hosseinibarkooie, Seyyedmohsen; Peters, Miriam; Torres-Benito, Laura; Rastetter, Raphael H; Hupperich, Kristina; Hoffmann, Andrea; Mendoza-Ferreira, Natalia; Kaczmarek, Anna; Janzen, Eva; Milbradt, Janine; Lamkemeyer, Tobias; Rigo, Frank; Bennett, C Frank; Guschlbauer, Christoph; Büschges, Ansgar; Hammerschmidt, Matthias; Riessland, Markus; Kye, Min Jeong; Clemen, Christoph S; Wirth, Brunhilde

    2016-09-01

    Homozygous loss of SMN1 causes spinal muscular atrophy (SMA), the most common and devastating childhood genetic motor-neuron disease. The copy gene SMN2 produces only ∼10% functional SMN protein, insufficient to counteract development of SMA. In contrast, the human genetic modifier plastin 3 (PLS3), an actin-binding and -bundling protein, fully protects against SMA in SMN1-deleted individuals carrying 3-4 SMN2 copies. Here, we demonstrate that the combinatorial effect of suboptimal SMN antisense oligonucleotide treatment and PLS3 overexpression-a situation resembling the human condition in asymptomatic SMN1-deleted individuals-rescues survival (from 14 to >250 days) and motoric abilities in a severe SMA mouse model. Because PLS3 knockout in yeast impairs endocytosis, we hypothesized that disturbed endocytosis might be a key cellular mechanism underlying impaired neurotransmission and neuromuscular junction maintenance in SMA. Indeed, SMN deficit dramatically reduced endocytosis, which was restored to normal levels by PLS3 overexpression. Upon low-frequency electro-stimulation, endocytotic FM1-43 (SynaptoGreen) uptake in the presynaptic terminal of neuromuscular junctions was restored to control levels in SMA-PLS3 mice. Moreover, proteomics and biochemical analysis revealed CORO1C, another F-actin binding protein, whose direct binding to PLS3 is dependent on calcium. Similar to PLS3 overexpression, CORO1C overexpression restored fluid-phase endocytosis in SMN-knockdown cells by elevating F-actin amounts and rescued the axonal truncation and branching phenotype in Smn-depleted zebrafish. Our findings emphasize the power of genetic modifiers to unravel the cellular pathomechanisms underlying SMA and the power of combinatorial therapy based on splice correction of SMN2 and endocytosis improvement to efficiently treat SMA. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  19. The Baldwin effect and genetic assimilation: revisiting two mechanisms of evolutionary change mediated by phenotypic plasticity.

    Science.gov (United States)

    Crispo, Erika

    2007-11-01

    Two different, but related, evolutionary theories pertaining to phenotypic plasticity were proposed by James Mark Baldwin and Conrad Hal Waddington. Unfortunately, these theories are often confused with one another. Baldwin's notion of organic selection posits that plasticity influences whether an individual will survive in a new environment, thus dictating the course of future evolution. Heritable variations can then be selected upon to direct phenotypic evolution (i.e., "orthoplasy"). The combination of these two processes (organic selection and orthoplasy) is now commonly referred to as the "Baldwin effect." Alternately, Waddington's genetic assimilation is a process whereby an environmentally induced phenotype, or "acquired character," becomes canalized through selection acting upon the developmental system. Genetic accommodation is a modern term used to describe the process of heritable changes that occur in response to a novel induction. Genetic accommodation is a key component of the Baldwin effect, and genetic assimilation is a type of genetic accommodation. I here define both the Baldwin effect and genetic assimilation in terms of genetic accommodation, describe cases in which either should occur in nature, and propose that each could play a role in evolutionary diversification.

  20. A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Ingles, Jodie; McGaughran, Julie; Scuffham, Paul A; Atherton, John; Semsarian, Christopher

    2012-04-01

    Traditional management of families with hypertrophic cardiomyopathy (HCM) involves periodic lifetime clinical screening of family members, an approach that does not identify all gene carriers owing to incomplete penetrance and significant clinical heterogeneity. Limitations in availability and cost have meant genetic testing is not part of routine clinical management for many HCM families. To determine the cost-effectiveness of the addition of genetic testing to HCM family management, compared with clinical screening alone. A probabilistic Markov decision model was used to determine cost per quality-adjusted life-year and cost for each life-year gained when genetic testing is included in the management of Australian families with HCM, compared with the conventional approach of periodic clinical screening alone. The incremental cost-effectiveness ratio (ICER) was $A785 (£510 or €587) per quality-adjusted life-year gained, and $A12 720 (£8261 or €9509) per additional life-year gained making genetic testing a very cost-effective strategy. Sensitivity analyses showed that the cost of proband genetic testing was an important variable. As the cost of proband genetic testing decreased, the ICER decreased and was cost saving when the cost fell below $A248 (£161 or €185). In addition, the mutation identification rate was also important in reducing the overall ICER, although even at the upper limits, the ICER still fell well within accepted willingness to pay bounds. The addition of genetic testing to the management of HCM families is cost-effective in comparison with the conventional approach of regular clinical screening. This has important implications for the evaluation of families with HCM, and suggests that all should have access to specialised cardiac genetic clinics that can offer genetic testing.

  1. Temporal variation in genetic diversity and effective population size of Mediterranean and subalpine Arabidopsis thaliana populations.

    Science.gov (United States)

    Gomaa, Nasr H; Montesinos-Navarro, Alicia; Alonso-Blanco, Carlos; Picó, F Xavier

    2011-09-01

    Currently, there exists a limited knowledge on the extent of temporal variation in population genetic parameters of natural populations. Here, we study the extent of temporal variation in population genetics by genotyping 151 genome-wide SNP markers polymorphic in 466 individuals collected from nine populations of the annual plant Arabidopsis thaliana during 4 years. Populations are located along an altitudinal climatic gradient from Mediterranean to subalpine environments in NE Spain, which has been shown to influence key demographic attributes and life cycle adaptations. Genetically, A. thaliana populations were more variable across space than over time. Common multilocus genotypes were detected several years in the same population, whereas low-frequency multilocus genotypes appeared only 1 year. High-elevation populations were genetically poorer and more variable over time than low-elevation populations, which might be caused by a higher overall demographic instability at higher altitudes. Estimated effective population sizes were low but also showed a significant decreasing trend with increasing altitude, suggesting a deeper impact of genetic drift at high-elevation populations. In comparison with single-year samplings, repeated genotyping over time captured substantially higher amount of genetic variation contained in A. thaliana populations. Furthermore, repeated genotyping of populations provided novel information on the genetic properties of A. thaliana populations and allowed hypothesizing on their underlying mechanisms. Therefore, including temporal genotyping programmes into traditional population genetic studies can significantly increase our understanding of the dynamics of natural populations.

  2. Dispersal responses override density effects on genetic diversity during post-disturbance succession.

    Science.gov (United States)

    Smith, Annabel L; Landguth, Erin L; Bull, C Michael; Banks, Sam C; Gardner, Michael G; Driscoll, Don A

    2016-03-30

    Dispersal fundamentally influences spatial population dynamics but little is known about dispersal variation in landscapes where spatial heterogeneity is generated predominantly by disturbance and succession. We tested the hypothesis that habitat succession following fire inhibits dispersal, leading to declines over time in genetic diversity in the early successional gecko Nephrurus stellatus We combined a landscape genetics field study with a spatially explicit simulation experiment to determine whether successional patterns in genetic diversity were driven by habitat-mediated dispersal or demographic effects (declines in population density leading to genetic drift). Initial increases in genetic structure following fire were likely driven by direct mortality and rapid population expansion. Subsequent habitat succession increased resistance to gene flow and decreased dispersal and genetic diversity inN. stellatus Simulated changes in population density alone did not reproduce these results. Habitat-mediated reductions in dispersal, combined with changes in population density, were essential to drive the field-observed patterns. Our study provides a framework for combining demographic, movement and genetic data with simulations to discover the relative influence of demography and dispersal on patterns of landscape genetic structure. Our results suggest that succession can inhibit connectivity among individuals, opening new avenues for understanding how disturbance regimes influence spatial population dynamics. © 2016 The Author(s).

  3. More rapid climate change promotes evolutionary rescue through selection for increased dispersal distance.

    Science.gov (United States)

    Boeye, Jeroen; Travis, Justin M J; Stoks, Robby; Bonte, Dries

    2013-02-01

    Species can either adapt to new conditions induced by climate change or shift their range in an attempt to track optimal environmental conditions. During current range shifts, species are simultaneously confronted with a second major anthropogenic disturbance, landscape fragmentation. Using individual-based models with a shifting climate window, we examine the effect of different rates of climate change on the evolution of dispersal distances through changes in the genetically determined dispersal kernel. Our results demonstrate that the rate of climate change is positively correlated to the evolved dispersal distances although too fast climate change causes the population to crash. When faced with realistic rates of climate change, greater dispersal distances evolve than those required for the population to keep track of the climate, thereby maximizing population size. Importantly, the greater dispersal distances that evolve when climate change is more rapid, induce evolutionary rescue by facilitating the population in crossing large gaps in the landscape. This could ensure population persistence in case of range shifting in fragmented landscapes. Furthermore, we highlight problems in using invasion speed as a proxy for potential range shifting abilities under climate change.

  4. Direct effect of diagnostic ultrasound on genetically interesting molecules

    Energy Technology Data Exchange (ETDEWEB)

    Ciatti, S.; Domokos, G.; Koevesi-Domokos, S.; Milano, F.

    1981-01-01

    Ultrasound is a non-ionizing radiation and at typical intensities used in diagnostic sonography, macroscopic damage to tissues is negligible. Some recent experiments, however, provided evidence for possible genetic damage caused by relatively low-intensity ultrasound irradiation. Although the implications of such experiments concerning possible genetic damage caused by low intensity ultrasound irradiation are not yet completely understood, the very existence of such results raises an important theoretical question. Is it possible that a non-ionizing radiation can cause significant changes in the structure of a typical DNA molecule. Several mechanisms exist which are responsible for such changes including: (1) structural changes in the molecule due to sound absorption from a high harmonic of the repetition frequency of a pulsed ultrasound radiation; (2) structural changes due to multi-phonon absorption from low harmonics of the repetition frequency; and (3) break-up of the molecule as a consequence of the excitation of collective vibrations. The calculations presented suggest that, should damage to DNA in vitro caused by low-intensity ultrasound be confirmed beyond reasonable doubt, such catastrophic changes in the structure of DNA molecules are more likely to arise as a result of their collective modes rather than from a localizable breakup of some hydrogen bonds. (ERB)

  5. Biobotic insect swarm based sensor networks for search and rescue

    Science.gov (United States)

    Bozkurt, Alper; Lobaton, Edgar; Sichitiu, Mihail; Hedrick, Tyson; Latif, Tahmid; Dirafzoon, Alireza; Whitmire, Eric; Verderber, Alexander; Marin, Juan; Xiong, Hong

    2014-06-01

    The potential benefits of distributed robotics systems in applications requiring situational awareness, such as search-and-rescue in emergency situations, are indisputable. The efficiency of such systems requires robotic agents capable of coping with uncertain and dynamic environmental conditions. For example, after an earthquake, a tremendous effort is spent for days to reach to surviving victims where robotic swarms or other distributed robotic systems might play a great role in achieving this faster. However, current technology falls short of offering centimeter scale mobile agents that can function effectively under such conditions. Insects, the inspiration of many robotic swarms, exhibit an unmatched ability to navigate through such environments while successfully maintaining control and stability. We have benefitted from recent developments in neural engineering and neuromuscular stimulation research to fuse the locomotory advantages of insects with the latest developments in wireless networking technologies to enable biobotic insect agents to function as search-and-rescue agents. Our research efforts towards this goal include development of biobot electronic backpack technologies, establishment of biobot tracking testbeds to evaluate locomotion control efficiency, investigation of biobotic control strategies with Gromphadorhina portentosa cockroaches and Manduca sexta moths, establishment of a localization and communication infrastructure, modeling and controlling collective motion by learning deterministic and stochastic motion models, topological motion modeling based on these models, and the development of a swarm robotic platform to be used as a testbed for our algorithms.

  6. Hybrid wireless sensor network for rescue site monitoring after earthquake

    Science.gov (United States)

    Wang, Rui; Wang, Shuo; Tang, Chong; Zhao, Xiaoguang; Hu, Weijian; Tan, Min; Gao, Bowei

    2016-07-01

    This paper addresses the design of a low-cost, low-complexity, and rapidly deployable wireless sensor network (WSN) for rescue site monitoring after earthquakes. The system structure of the hybrid WSN is described. Specifically, the proposed hybrid WSN consists of two kinds of wireless nodes, i.e., the monitor node and the sensor node. Then the mechanism and the system configuration of the wireless nodes are detailed. A transmission control protocol (TCP)-based request-response scheme is proposed to allow several monitor nodes to communicate with the monitoring center. UDP-based image transmission algorithms with fast recovery have been developed to meet the requirements of in-time delivery of on-site monitor images. In addition, the monitor node contains a ZigBee module that used to communicate with the sensor nodes, which are designed with small dimensions to monitor the environment by sensing different physical properties in narrow spaces. By building a WSN using these wireless nodes, the monitoring center can display real-time monitor images of the monitoring area and visualize all collected sensor data on geographic information systems. In the end, field experiments were performed at the Training Base of Emergency Seismic Rescue Troops of China and the experimental results demonstrate the feasibility and effectiveness of the monitor system.

  7. Native flora rescue program: GASENE project case study

    Energy Technology Data Exchange (ETDEWEB)

    Serricchio, Claudio; Caldas, Flaviana V. [PETROBRAS, Rio de Janeiro, RJ (Brazil); Akahori, Lisa [Telsan, Rio de Janeiro, RJ (Brazil); Jacomelli Junior, Jose Almir [AGF Engenharia, Araucaria, PR (Brazil)

    2009-07-01

    Concerning the surrounding flora, the implementation of pipelines may cause fragmentation and isolation of the remaining natural vegetation, possibly changing the forest structure; thus raising the border effect; modifying the ratio of species and life forms, decreasing the vegetal diversity and/or causing a lack of connectivity among the remaining indigenous forest resources. In the case of pipelines, the most important environmental measure intended to mitigate the damage caused to the flora is the adoption of Indigenous Flora Rescue Programs. This paper is aimed at analyzing the programs currently applied during the implementation of the GASENE project, by conducting a case study. The main targets of such program are obtaining seeds and fruits with a view to subsidize the potential production of sapling to be further employed in the recovery of areas impacted by the pipeline works; and then relocate the most significant samples of species rescued from the suppressed areas in order to comprise forest areas adjacent to the pipeline's right-of-way. The programs had little differences in their methodology while being implemented, however, we consider that up to the present moment the results obtained in the preservation of species of native flora have been satisfactory. (author)

  8. VEGETATIVE RESCUE AND CUTTINGS PROPAGATION OF Araucaria angustifolia (Bertol. Kuntze

    Directory of Open Access Journals (Sweden)

    Ivar Wendling

    2015-02-01

    Full Text Available Brazilian pine or araucaria (Araucaria angustifolia is a coniferous tree with great economic, social and environmental importance in southern Brazil, being exploited for both wood production and for its edible pine nuts. However, no efficient cloning techniques are available and, therefore, the purpose of this study was to evaluate the effectiveness of vegetative rescue methods for cuttings propagation of the species. Shoots/cuttings were generated in two ways: 26 years old trees underwent coppicing and 20 years old trees had the primary branches on the upper third of crown pruned at 2, 20 and 50 cm from the main trunk. Orthotropic shoots were rooted after application of indole-3-butyric acid (IBA at 0, 2, 4 and 6 g.L-1. Coppicing produced 47 cuttings per plant with 90% orthotropic shoots, while pruning resulted in 182 cuttings per plant with 44% orthotropic shoots. Rooting success indexes were low with no influence of IBA, although they are slightly superior to the ones available in the literature for the species, ranging from 12 to 30% for the coppice shoots and from 0 to 28% for the branches shoots. We conclude that both vegetative rescue techniques are viable and have potentially important applications. Coppicing is recommended for the propagation aiming the production of wood, while shoots derived from the side branches of the crown are more appropriate for seeds orchards formation.

  9. Rescue of mumps virus from cDNA.

    Science.gov (United States)

    Clarke, D K; Sidhu, M S; Johnson, J E; Udem, S A

    2000-05-01

    A complete DNA copy of the genome of a Jeryl Lynn strain of mumps virus (15,384 nucleotides) was assembled from cDNA fragments such that an exact antigenome RNA could be generated following transcription by T7 RNA polymerase and cleavage by hepatitis delta virus ribozyme. The plasmid containing the genome sequence, together with support plasmids which express mumps virus NP, P, and L proteins under control of the T7 RNA polymerase promoter, were transfected into A549 cells previously infected with recombinant vaccinia virus (MVA-T7) that expressed T7 RNA polymerase. Rescue of infectious virus from the genome cDNA was demonstrated by amplification of mumps virus from transfected-cell cultures and by subsequent consensus sequencing of reverse transcription-PCR products generated from infected-cell RNA to verify the presence of specific nucleotide tags introduced into the genome cDNA clone. The only coding change (position 8502, A to G) in the cDNA clone relative to the consensus sequence of the Jeryl Lynn plaque isolate from which it was derived, resulting in a lysine-to-arginine substitution at amino acid 22 of the L protein, did not prevent rescue of mumps virus, even though an amino acid alignment for the L proteins of paramyxoviruses indicates that lysine is highly conserved at that position. This system may provide the basis of a safe and effective virus vector for the in vivo expression of immunologically and biologically active proteins, peptides, and RNAs.

  10. Effect of geographic isolation on genetic differentiation in Dendroctonus pseudotsugae (Coleoptera: Curculionidae).

    Science.gov (United States)

    Ruiz, Enrico A; Rinehart, John E; Hayes, Jane L; Zúñiga, Gerardo

    2009-05-01

    Genetic structure of phytophagous insects has been widely studied, however, relative influence of the effect of geographic isolation, the host plant or both has been subject of considerable debate. Several studies carried out on bark beetles in the genus Dendroctonus evaluated these factors; nonetheless, recent evidence has shown that genetic structuring is a more complex process. Our goal was to examine the effect of geographic isolation on genetic structure of the Douglas-fir beetle Dendroctonus pseudotsugae. We used mtDNA cytochrome oxidase I (COI) sequences and RAPD markers. One hundred-seventy-two individuals were obtained from 17 populations, for which we analyzed 60 haplotypes (among 172 sequences of COI gene, 550 bp long) and 232 RAPD markers (7 primers). Analyses of molecular variance (AMOVA and SAMOVA), F-statistics and linear regressions suggest that the genetic structure of D. pseudotsugae is strongly influenced by geographic distance. We found that D. pseudotsugae has high intra- and inter-population genetic variation compared with several other bark beetles. Genetic differences among populations based on COI and RAPD markers were correlated with geographic distance. The observed genetic differences between northern (Canada-USA) and southern (Mexico) populations on Pseudotsuga menziesii var. glauca confirm that these two sets of populations correspond to previously assigned subspecies.

  11. Evidence for nonadditive genetic effects on Eysenck Personality Scales in South Korean twins.

    Science.gov (United States)

    Hur, Yoon-Mi

    2007-04-01

    While evidence supporting for nonadditive genetic influences on personality traits in Caucasian populations has been growing in recent years, twin studies that explored the existence of genetic nonadditivity in personality variation in Asian populations are still lacking. Seven hundred and sixty-five pairs of adolescent and young adult twins registered with the South Korean Twin Registry completed the 7 scales of the Eysenck Personality Scales through a mail survey. Maximum likelihood twin correlations were computed and model-fitting analyses were conducted. Monozygotic twin correlations were consistently higher than twice the dizygotic twin correlations for all 7 scales, suggesting pervasive influences of nonadditive genetic effects on personality traits in the South Korean population. Model-fitting analyses indicated that genetic nonadditivity is particularly important for the variation of Impulsivity, Venturesomeness, Empathy, Lie, and Psychoticism. According to the best fitting models, nonadditive genetic effects ranged from 34 to 49% for these scales. For Neuroticism and Extraversion, models that included an additive genetic component fit better than those including a nonadditive genetic variance component.

  12. Retrospective on the construction and practice of a state-level emergency medical rescue team.

    Science.gov (United States)

    Lei, Zhang; Haitao, Guo; Xin, Wang; Yundou, Wang

    2014-10-01

    For the past few years, disasters like earthquakes, landslides, mudslides, tsunamis, and traffic accidents have occurred with an ever-growing frequency, coverage, and intensity greatly beyond the expectation of the public. In order to respond effectively to disasters and to reduce casualties and property damage, countries around the world have invested more efforts in the theoretical study of emergency medicine and the construction of emergency medical rescue forces. Consequently, emergency medical rescue teams of all scales and types have come into being and have played significant roles in disaster response work. As the only state-level emergency medical rescue force from the Chinese People's Armed Police Forces, the force described here has developed, through continuous learning and practice, a characteristic mode in terms of grouping methods, equipment system construction, and training.

  13. The genetic origin of Klinefelter syndrome and its effect on spermatogenesis.

    Science.gov (United States)

    Maiburg, Merel; Repping, Sjoerd; Giltay, Jacques

    2012-08-01

    Klinefelter syndrome is the most prevalent chromosome abnormality and genetic cause of azoospermia in males. The availability of assisted reproductive technology (ART) has allowed men with Klinefelter syndrome to father their own genetic offspring. When providing ART to men with Klinefelter syndrome, it is important to be able to counsel them properly on both the chance of finding sperm and the potential effects on their offspring. The aim of this review is twofold: [1] to describe the genetic etiology of Klinefelter syndrome and [2] to describe how spermatogenesis occurs in men with Klinefelter syndrome and the consequences this has for children born from men with Klinefelter syndrome.

  14. Breed effect and non-genetic factors affecting growth performance of ...

    African Journals Online (AJOL)

    SARAH

    2013-07-30

    Jul 30, 2013 ... Breed effect and non-genetic factors of growth performance of sheep. 5302. Breed effect and .... consisting of 25% cottonseed cake and 75% maize. The General Liner Model ..... and environmental changes have effect on the quality and quantity of pasture forages, which also affect the provision of food and ...

  15. Renal rescue of dopamine D2 receptor function reverses renal injury and high blood pressure

    OpenAIRE

    Konkalmatt, Prasad R.; Asico, Laureano D.; Zhang, Yanrong; Yang, Yu; Drachenberg, Cinthia; Zheng, Xiaoxu; Han, Fei; Pedro A. Jose; Armando, Ines

    2016-01-01

    Dopamine D2 receptor (DRD2) deficiency increases renal inflammation and blood pressure in mice. We show here that long-term renal-selective silencing of Drd2 using siRNA increases renal expression of proinflammatory and profibrotic factors and blood pressure in mice. To determine the effects of renal-selective rescue of Drd2 expression in mice, the renal expression of DRD2 was first silenced using siRNA and 14 days later rescued by retrograde renal infusion of adeno-associated virus (AAV) vec...

  16. Factor analysis models for structuring covariance matrices of additive genetic effects: a Bayesian implementation

    Directory of Open Access Journals (Sweden)

    Gianola Daniel

    2007-09-01

    Full Text Available Abstract Multivariate linear models are increasingly important in quantitative genetics. In high dimensional specifications, factor analysis (FA may provide an avenue for structuring (covariance matrices, thus reducing the number of parameters needed for describing (codispersion. We describe how FA can be used to model genetic effects in the context of a multivariate linear mixed model. An orthogonal common factor structure is used to model genetic effects under Gaussian assumption, so that the marginal likelihood is multivariate normal with a structured genetic (covariance matrix. Under standard prior assumptions, all fully conditional distributions have closed form, and samples from the joint posterior distribution can be obtained via Gibbs sampling. The model and the algorithm developed for its Bayesian implementation were used to describe five repeated records of milk yield in dairy cattle, and a one common FA model was compared with a standard multiple trait model. The Bayesian Information Criterion favored the FA model.

  17. The potential use of genetics to increase the effectiveness of treatment programs for criminal offenders.

    Science.gov (United States)

    Beaver, Kevin M; Jackson, Dylan B; Flesher, Dillon

    2014-01-01

    During the past couple of decades, the amount of research examining the genetic underpinnings to antisocial behaviors, including crime, has exploded. Findings from this body of work have generated a great deal of information linking genetics to criminal involvement. As a partial result, there is now a considerable amount of interest in how these findings should be integrated into the criminal justice system. In the current paper, we outline the potential ways that genetic information can be used to increase the effectiveness of treatment programs designed to reduce recidivism among offenders. We conclude by drawing attention to how genetic information can be used by rehabilitation programs to increase program effectiveness, reduce offender recidivism rates, and enhance public safety.

  18. Genetic effects influencing risk for major depressive disorder in China and Europe

    DEFF Research Database (Denmark)

    Bigdeli, Tim B; Ripke, S; Peterson, Roseann E

    2017-01-01

    Major depressive disorder (MDD) is a common, complex psychiatric disorder and a leading cause of disability worldwide. Despite twin studies indicating its modest heritability (~30-40%), extensive heterogeneity and a complex genetic architecture have complicated efforts to detect associated genetic...... directions of effect, assessed the significance of polygenic risk scores and estimated the genetic correlation of MDD across ancestries. Subsequent trans-ancestry meta-analyses combined SNP-level evidence of association. Sign tests and polygenic score profiling weakly support an overlap of SNP effects...... between East Asian and European populations. We estimated the trans-ancestry genetic correlation of lifetime MDD as 0.33; female-only and recurrent MDD yielded estimates of 0.40 and 0.41, respectively. Common variants downstream of GPHN achieved genome-wide significance by Bayesian trans-ancestry meta...

  19. Pharmacological inhibition of Anaplastic Lymphoma Kinase rescues spatial memory impairments in Neurofibromatosis 1 mutant mice.

    Science.gov (United States)

    Weiss, Joseph B; Weber, Sydney; Marzulla, Tessa; Raber, Jacob

    2017-08-14

    Heterozygous Neurofibromatosis 1 (NF1) loss of function mutations are found in 90% of patients with neurofibromatosis, a syndrome associated with disabling cognitive impairment. Drosophila studies have demonstrated a genetic interaction between Anaplastic Lymphoma Kinase (Alk) and NF1 in cognitive performance. In addition, pharmacologic inhibition of Alk improves cognitive performance in heterozygous NF1 mutant flies. In this study, we tested whether pharmacological inhibition of Alk in heterozygous NF1 mutant mice attenuates or rescues cognitive impairments. Cognitive impairment of spatial memory retention observed in heterozygous NF1 mutant mice was rescued by the Alk inhibitor. These data support the hypothesis that inhibition of Alk may cognitively benefit patients with Neurofibromatosis 1. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. GENETICALLY MODIFIED CROPS: INTERNATIONAL TRADE AND TRADE POLICY EFFECTS

    Directory of Open Access Journals (Sweden)

    George Frisvold

    2015-04-01

    Full Text Available Where approved, producers have adopted genetically modified (GM crops extensively. Yet, areas not adopting GM crops account for large shares of production and consumption. GM crops differ from previous agricultural innovations because consumers may perceive them as fundamentally different from (and potentially inferior to conventionally grown crops. Many countries maintain restrictions on production and importation of GM crops. GM crop adoption affects producers and consumers, not only through technological change, but also through trade policy responses. This article reviews open economy analyses of impacts of GM crops. To varying degrees, commodities are segmented into GM, conventionally grown, and organic product markets. Recent advances in trade modeling consider the consequences of market segmentation, along with consequences of GM crop import restrictions, product segregation requirements, and coexistence policies.

  1. Origins of magic: review of genetic and epigenetic effects.

    Science.gov (United States)

    Ramagopalan, Sreeram V; Knight, Marian; Ebers, George C; Knight, Julian C

    2007-12-22

    To assess the evidence for a genetic basis to magic. Literature review. Harry Potter novels of J K Rowling. Muggles, witches, wizards, and squibs. Limited. Family and twin studies, magical ability, and specific magical skills. Magic shows strong evidence of heritability, with familial aggregation and concordance in twins. Evidence suggests magical ability to be a quantitative trait. Specific magical skills, notably being able to speak to snakes, predict the future, and change hair colour, all seem heritable. A multilocus model with a dominant gene for magic might exist, controlled epistatically by one or more loci, possibly recessive in nature. Magical enhancers regulating gene expressionmay be involved, combined with mutations at specific genes implicated in speech and hair colour such as FOXP2 and MCR1.

  2. Genetic effects on sleep/wake variation of seizures

    Science.gov (United States)

    Winawer, Melodie R.; Shih, Jerry; Beck, Erin S.; Hunter, Jessica E.; Epstein, Michael P.

    2016-01-01

    Summary Objective There is a complex bidirectional relationship between sleep and epilepsy. Sleep/wake timing of seizures has been investigated for several individual seizure types and syndromes, but few large-scale studies of the timing of seizures exist in people with varied epilepsy types. In addition, the genetic contributions to seizure timing have not been well studied. Methods Sleep/wake timing of seizures was determined for 1,395 subjects in 546 families enrolled in the Epilepsy Phenome/Genome Project (EPGP). We examined seizure timing among subjects with different epilepsy types, seizure types, epilepsy syndromes, and localization. We also examined the familial aggregation of sleep/wake occurrence of seizures. Results Seizures in nonacquired focal epilepsy (NAFE) were more likely to occur during sleep than seizures in generalized epilepsy (GE), for both convulsive (odds ratio [OR] 5.2, 95% confidence interval [CI] 3.59–7.52) and nonconvulsive seizures (OR 4.2, 95% CI 2.48–7.21). Seizures occurring within 1 h of awakening were more likely to occur in patients with GE than with NAFE for both convulsive (OR 2.3, 95% CI 1.54– 3.39) and nonconvulsive (OR 1.7, 95% CI 1.04–2.66) seizures. Frontal onset seizures were more likely than temporal onset seizures to occur during sleep. Sleep/wake timing of seizures in first-degree relatives predicted timing of seizures in the proband. Significance We found that sleep/wake timing of seizures is associated with both epilepsy syndrome and seizure type. In addition, we provide the first evidence for a genetic contribution to sleep/wake timing of seizures in a large group of individuals with common epilepsy syndromes. PMID:26948972

  3. Unirradiated cells rescue cells exposed to ionizing radiation: Activation of NF-κB pathway in irradiated cells

    Energy Technology Data Exchange (ETDEWEB)

    Lam, R.K.K. [Department of Physics and Materials Science, City University of Hong Kong (Hong Kong); Han, Wei [Center of Medical Physics and Technology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei 230031 (China); Yu, K.N., E-mail: peter.yu@cityu.edu.hk [Department of Physics and Materials Science, City University of Hong Kong (Hong Kong); State Key Laboratory in Marine Pollution, City University of Hong Kong (Hong Kong)

    2015-12-15

    Highlights: • Rescue effect was observed in both irradiated and HeLa and NIH/3T3 cells. • Novel setup and procedures to separate the rescue signals and the bystander signals. • Confirmed activation of NF-κB pathway in rescue effect using activation inhibitor. • Confirmed activation of NF-κB pathway in rescue effect using anti-NF-κB p65 antibody. - Abstract: We studied the involvement of NF-κB pathway activation in the rescue effect in HeLa and NIH/3T3 cells irradiated by α particles. Firstly, upon irradiation by 5 cGy of α particles, for both cell lines, the numbers of 53BP1 foci/cell at 12 h post-irradiation were significantly smaller when only 2.5% of the cell population was irradiated as compared to 100% irradiation, which demonstrated the rescue effect. Secondly, we studied the effect of NF-κB on the rescue effect through the use of the NF-κB activation inhibitor BAY-11-7082. Novel experimental setup and procedures were designed to prepare the medium (CM) which had conditioned the bystander cells previously partnered with irradiated cells, to ensure physical separation between rescue and bystander signals. BAY-11-7082 itself did not inflict DNA damages in the cells or have effects on activation of the NF-κB response pathway in the irradiated cells through direct irradiation. The rescue effect was induced in both cell lines by the CM, which was abrogated if BAY-11-7082 was added to the CM. Thirdly, we studied the effect of NF-κB on the rescue effect through staining for phosphorylated NF-κB (p-NF-κB) expression using the anti-NF-κB p65 (phospho S536) antibody. When the fraction of irradiated cells dropped from 100% to 2.5%, the p-NF-κB expression in the cell nuclei of irradiated NIH/3T3 cells increased significantly, while that in the cell nuclei of irradiated HeLa cells also increased although not significantly. Moreover, the p-NF-κB expression in the cell nuclei of irradiated HeLa cells and NIH/3T3 cells treated with CM also increased

  4. The Effect of Genetic and Environmental Variation on Metabolic Gene Expression

    OpenAIRE

    Cinda P Scott; Williams, Dean A; Crawford, Douglas L.

    2009-01-01

    What is the relationship between genetic or environmental variation and the variation in mRNA expression? To address this, microarrays were used to examine the effect of genetic and environmental variation on cardiac mRNA expression for metabolic genes in three groups of Fundulus heteroclitus: (1) individuals sampled in the field (field), (2) field individuals acclimated for six months to laboratory conditions (acclimated) or (3) individuals bred for ten successive generations in a laboratory...

  5. The effect and relative importance of neutral genetic diversity for predicting parasitism varies across parasite taxa.

    Directory of Open Access Journals (Sweden)

    María José Ruiz-López

    Full Text Available Understanding factors that determine heterogeneity in levels of parasitism across individuals is a major challenge in disease ecology. It is known that genetic makeup plays an important role in infection likelihood, but the mechanism remains unclear as does its relative importance when compared to other factors. We analyzed relationships between genetic diversity and macroparasites in outbred, free-ranging populations of raccoons (Procyon lotor. We measured heterozygosity at 14 microsatellite loci and modeled the effects of both multi-locus and single-locus heterozygosity on parasitism using an information theoretic approach and including non-genetic factors that are known to influence the likelihood of parasitism. The association of genetic diversity and parasitism, as well as the relative importance of genetic diversity, differed by parasitic group. Endoparasite species richness was better predicted by a model that included genetic diversity, with the more heterozygous hosts harboring fewer endoparasite species. Genetic diversity was also important in predicting abundance of replete ticks (Dermacentor variabilis. This association fit a curvilinear trend, with hosts that had either high or low levels of heterozygosity harboring fewer parasites than those with intermediate levels. In contrast, genetic diversity was not important in predicting abundance of non-replete ticks and lice (Trichodectes octomaculatus. No strong single-locus effects were observed for either endoparasites or replete ticks. Our results suggest that in outbred populations multi-locus diversity might be important for coping with parasitism. The differences in the relationships between heterozygosity and parasitism for the different parasites suggest that the role of genetic diversity varies with parasite-mediated selective pressures.

  6. Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1 rescues Nr2e3 associated retinal disease.

    Directory of Open Access Journals (Sweden)

    Nelly M Cruz

    Full Text Available Nuclear hormone receptors play a major role in many important biological processes. Most nuclear hormone receptors are ubiquitously expressed and regulate processes such as metabolism, circadian function, and development. They function in these processes to maintain homeostasis through modulation of transcriptional gene networks. In this study we evaluate the effectiveness of a nuclear hormone receptor gene to modulate retinal degeneration and restore the integrity of the retina. Currently, there are no effective treatment options for retinal degenerative diseases leading to progressive and irreversible blindness. In this study we demonstrate that the nuclear hormone receptor gene Nr1d1 (Rev-Erbα rescues Nr2e3-associated retinal degeneration in the rd7 mouse, which lacks a functional Nr2e3 gene. Mutations in human NR2E3 are associated with several retinal degenerations including enhanced S cone syndrome and retinitis pigmentosa. The rd7 mouse, lacking Nr2e3, exhibits an increase in S cones and slow, progressive retinal degeneration. A traditional genetic mapping approach previously identified candidate modifier loci. Here, we demonstrate that in vivo delivery of the candidate modifier gene, Nr1d1 rescues Nr2e3 associated retinal degeneration. We observed clinical, histological, functional, and molecular restoration of the rd7 retina. Furthermore, we demonstrate that the mechanism of rescue at the molecular and functional level is through the re-regulation of key genes within the Nr2e3-directed transcriptional network. Together, these findings reveal the potency of nuclear receptors as modulators of disease and specifically of NR1D1 as a novel therapeutic for retinal degenerations.

  7. The Pain and the Gain of Rescuing Historic Science Data: The Nimbus Data Rescue Project

    Science.gov (United States)

    Gallaher, D. W.; Campbell, G. G.

    2015-12-01

    While technology of our satellite systems have greatly improved the quality of observations over the past 50 years, it is the legacy of the first global coverage environment satellites, the Nimbus systems launched by NASA in the mid-1960s, that marks the beginning of a unique perspective from space. Such early data can extend our climate record and provide important context in longer-term climate changes. Unfortunately, the Nimbus data nearly disappeared before its value was recognized and attempts to recover the data were undertaken. While the Nimbus data was never truly lost, it was in a form that could not be read and was not organized in a way that could be accessed with modern computer systems. The rescue and recovery of the Nimbus data began in 2007 with an initiative by the NASA Goddard Space Flight Center. Without the Goddard efforts, the early Nimbus data might be forever dark. The Nimbus Rescue Project has just completed processing and archival of the Nimbus 4 visible and infrared observations from 1970 and 1971. This adds to our rescue efforts from Nimbus 1, 2 and 3 for 1964, 1966 and 1969. The procedures to recover the Nimbus data, from both film and tape, could be used by other data rescue projects, however the algorithms presented will tend to be Nimbus specific. The compositing of the mapped minimum brightness over weekly intervals resulted in never before seen views of the Polar Regions, such as a visible light view of the Antarctic ice extent from October 1970 (Figure 1). The Nimbus data recovery and reprocessing into modern formats was important, however it was the utility of the data as a part of the satellite climate record that made it valuable. Data rescue projects are often both difficult and time consuming but the data they bring back to the science community makes these efforts worthwhile.

  8. Leadership lessons from the Chilean mine rescue.

    Science.gov (United States)

    Rashid, Faaiza; Edmondson, Amy C; Leonard, Herman B

    2013-01-01

    Three years ago, when a cave-in at the San José mine in Chile trapped 33 men under 700,000 metric tons of rock, experts estimated the probability of getting them out alive at less than 1%. Yet, after spending a record 69 days underground, all 33 were hoisted up to safety. The inspiring story of their rescue is a case study in how to lead in situations where the stakes, risk, and uncertainty are incredibly high and time pressure is intense. Today executives often find themselves in similar straits. When they do, many feel torn. Should they be directive, taking charge and commanding action? Or should they be empowering, enabling innovation and experimentation? As the successful example of André Sougarret, the chief of the mine rescue operation, shows, the answer is yes--to both. The choice is a false dichotomy. Implementing this dual approach involves three key tasks. Each has directive and enabling components. The first task is envisioning, which requires instilling both realism and hope. The second task is enrolling, which means setting clear boundaries for who is on and off the team, but inviting in helpful collaborators. The third task is engaging--leading disciplined execution while encouraging innovation and experimentation. The authors of this article describe how Sougarret ably juggled all of these tasks, orchestrating the efforts of hundreds of people from different organizations, areas of expertise, and countries in an extraordinary mission that overcame impossible odds.

  9. Genetic/metabolic effect of iron metabolism and rare anemias

    Directory of Open Access Journals (Sweden)

    Clara Camaschella

    2013-03-01

    Full Text Available Advances in iron metabolism have allowed a novel classification of iron disorders and to identify previously unknown diseases. These disorders include genetic iron overload (hemochromatosis and inherited iron-related anemias, in some cases accompanied by iron overload. Rare inherited anemias may affect the hepcidin pathway, iron absorption, transport, utilization and recycling. Among the genetic iron-related anemias the most common form is likely the iron-refractory iron-deficiency anemia (IRIDA, due to mutations of the hepcidin inhibitor TMPRSS6 encoding the serine protease matriptase-2. IRIDA is characterized by hepcidin up-regulation, decrease iron absorption and macrophage recycling and by microcytic- hypochromic anemia, unresponsive to oral iron. High serum hepcidin levels may suggest the diagnosis, which requires demonstrating the causal TMPRSS6 mutations by gene sequencing. Other rare microcytic hypochromic anemias associated with defects of iron transport-uptake are the rare hypotransferrinemia, and DMT1 and STEAP3 mutations. The degree of anemia is variable and accompanied by secondary iron overload even in the absence of blood transfusions. This is due to the iron-deficient or expanded erythropoiesis that inhibits hepcidin transcription, increases iron absorption, through the erythroid regulator, as in untransfused beta-thalassemia. Sideroblastic anemias are due to decreased mitochondrial iron utilization for heme or sulfur cluster synthesis. Their diagnosis requires demonstrating ringed sideroblasts by Perl’s staining of the bone marrow smears. The commonest X-linked form is due to deltaamino- levulinic-synthase-2-acid (ALAS2 mutations. The recessive, more severe form, affects SLC25A38, which encodes a potential mitochondrial importer of glycine, an amino acid essential for ALA synthesis and thus results in heme deficiency. Two disorders affect iron/sulfur cluster biogenesis: deficiency of the ATP-binding cassette B7 (ABCB7 causes X

  10. Effect of a genetically engineered bacteriophage on Enterococcus faecalis biofilms.

    Science.gov (United States)

    Tinoco, Justine Monnerat; Buttaro, Bettina; Zhang, Hongming; Liss, Nadia; Sassone, Luciana; Stevens, Roy

    2016-11-01

    Enterococcus faecalis is a Gram-positive, facultative anaerobic bacterium that is associated with failed endodontic cases and nosocomial infections. E. faecalis can form biofilms, penetrate dentinal tubules and survive in root canals with scarce nutritional supplies. These properties can make E. faecalis resistant to conventional endodontic disinfection therapy. Furthermore, treatment may be complicated by the fact that many E. faecalis strains are resistant to antibiotics. A potential alternative to antibiotic therapy is phage therapy. ϕEf11 is a temperate phage that infects strains of E. faecalis. It was previously sequenced and genetically engineered to modify its properties in order to render it useful as a therapeutic agent in phage therapy. In the current study, we have further genetically modified the phage to create phage ϕEf11/ϕFL1C(Δ36)(PnisA). The aim of this study was to evaluate the efficacy of bacteriophage ϕEf11/ϕFL1C(Δ36)(PnisA), to disrupt biofilms of two Enterococcus faecalis strains: JH2-2 (vancomycin-sensitive) and V583 (vancomycin-resistant). 24h static biofilms of E. faecalis strains JH2-2(pMSP3535 nisR/K) and V583 (pMSP3535nisR/K), formed on cover slips, were inoculated with bacteriophage ϕEf11/ϕFL1C(Δ36)(PnisA). After 24 and 48h incubation, the bacterial biomass was imaged by confocal microscopy and viable cells were quantified by colony forming unit measurement. The results showed a 10-100-fold decrease in viable cells (CFU/biofilm) after phage treatment, which was consistent with comparisons of treated and untreated biofilm images visualized as max projections of the Z-series. The biomass of both vancomycin-sensitive and vancomycin-resistant E. faecalis biofilms is markedly reduced following infection by bacteriophage ϕEf11/ϕFL1C(Δ36)(PnisA). Copyright © 2016 Elsevier Ltd. All rights reserved.

  11. Collaboration between Extension and Industry: Coordination and Assessment of Technical Large Animal Emergency Rescue Training

    Science.gov (United States)

    Porr, C. A. Shea; Shultz, Alyx M.; Gimenez, Rebecca; Splan, Rebecca K.

    2016-01-01

    Rescuing large animals from emergency situations can be fraught with dangers not only to the animals but also to the rescuers. People involved at the scene of such an emergency are most likely to include first responders, horse owners, and veterinarians. These groups need to be aware of how they can best work together to effect a safe and…

  12. Cueing training in the home improves gait-related mobility in Parkinson's disease: the RESCUE trial.

    NARCIS (Netherlands)

    Nieuwboer, A.; Kwakkel, G.; Rochester, L.; Jones, D.; Wegen, E. van; Willems, A.M.; Chavret, F.; Hetherington, V.; Baker, K.; Lim, I.

    2007-01-01

    OBJECTIVES: Gait and mobility problems are difficult to treat in people with Parkinson's disease. The Rehabilitation in Parkinson's Disease: Strategies for Cueing (RESCUE) trial investigated the effects of a home physiotherapy programme based on rhythmical cueing on gait and gait-related activity. M

  13. Self-rescue strategies for EVA crewmembers equipped with the SAFER backpack

    Science.gov (United States)

    Williams, Trevor; Baughman, David

    1994-01-01

    An extravehicular astronaut who becomes separated from a space station has three options available: grappling the station immediately by means of a 'shepherd's crook' device; rescue by either a second crewmember flying an MMU or a robotic-controlled MMU; or self-rescue by means of a propulsive system. The first option requires very fast response by a tumbling astronaut; the second requires constant availability of an MMU, as well as a rendezvous procedure thousands of feet from the station. This paper will consider the third option, propulsive self-rescue. In particular, the capability of the new Simplified Aid for EVA Rescue (SAFER) propulsive backpack, which is to be tested on STS-64 in Sep. 1994, will be studied. This system possesses an attitude hold function that can automatically detumble an astronaut after separation. On-orbit tests of candidate self-rescue systems have demonstrated the need for such a feature. SAFER has a total delta(v) capability of about 10 fps, to cover both rotations and translations, compared with a possible separation rate of 2.5 fps. But the delta(v) required for self-rescue is critically dependent on the delay before return can be initiated, as a consequence of orbital effects. A very important practical question is then whether the total delta(v) of SAFER is adequate to perform self-rescue for worst case values of separation speed, time to detumble, and time for the astronaut to visually acquire the station. This paper shows that SAFER does indeed have sufficient propellant to carry out self-rescue in all realistic separation cases, as well as in cases which are considerably more severe than anything likely to be encountered in practice. The return trajectories and total delta(v)'s discussed are obtained by means of an 'inertial line-of-sight targeting' scheme, derived in the paper, which allows orbital effects to be corrected by making use of the visual information available to the pilot, namely the line-of-sight direction to the

  14. Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.

    Science.gov (United States)

    Forny, Patrick; Schumann, Anke; Mustedanagic, Merima; Mathis, Déborah; Wulf, Marie-Angela; Nägele, Nadine; Langhans, Claus-Dieter; Zhakupova, Assem; Heeren, Joerg; Scheja, Ludger; Fingerhut, Ralph; Peters, Heidi L; Hornemann, Thorsten; Thony, Beat; Kölker, Stefan; Burda, Patricie; Froese, D Sean; Devuyst, Olivier; Baumgartner, Matthias R

    2016-09-23

    Methylmalonic aciduria (MMAuria), caused by deficiency of methylmalonyl-CoA mutase (MUT), usually presents in the newborn period with failure to thrive and metabolic crisis leading to coma or even death. Survivors remain at risk of metabolic decompensations and severe long term complications, notably renal failure and neurological impairment. We generated clinically relevant mouse models of MMAuria using a constitutive Mut knock-in (KI) allele based on the p.Met700Lys patient mutation, used homozygously (KI/KI) or combined with a knockout allele (KO/KI), to study biochemical and clinical MMAuria disease aspects. Transgenic Mut(ki/ki) and Mut(ko/ki) mice survive post-weaning, show failure to thrive, and show increased methylmalonic acid, propionylcarnitine, odd chain fatty acids, and sphingoid bases, a new potential biomarker of MMAuria. Consistent with genetic dosage, Mut(ko/ki) mice have lower Mut activity, are smaller, and show higher metabolite levels than Mut(ki/ki) mice. Further, Mut(ko/ki) mice exhibit manifestations of kidney and brain damage, including increased plasma urea, impaired diuresis, elevated biomarkers, and changes in brain weight. On a high protein diet, mutant mice display disease exacerbation, including elevated blood ammonia, and catastrophic weight loss, which, in Mut(ki/ki) mice, is rescued by hydroxocobalamin treatment. This study expands knowledge of MMAuria, introduces the discovery of new biomarkers, and constitutes the first in vivo proof of principle of cobalamin treatment in mut-type MMAuria. © 2016 by The American Society for Biochemistry and Molecular Biology, Inc.

  15. Evolutionary implications of mitochondrial genetic variation: mitochondrial genetic effects on OXPHOS respiration and mitochondrial quantity change with age and sex in fruit flies.

    Science.gov (United States)

    Wolff, J N; Pichaud, N; Camus, M F; Côté, G; Blier, P U; Dowling, D K

    2016-04-01

    The ancient acquisition of the mitochondrion into the ancestor of modern-day eukaryotes is thought to have been pivotal in facilitating the evolution of complex life. Mitochondria retain their own diminutive genome, with mitochondrial genes encoding core subunits involved in oxidative phosphorylation. Traditionally, it was assumed that there was little scope for genetic variation to accumulate and be maintained within the mitochondrial genome. However, in the past decade, mitochondrial genetic variation has been routinely tied to the expression of life-history traits such as fertility, development and longevity. To examine whether these broad-scale effects on life-history trait expression might ultimately find their root in mitochondrially mediated effects on core bioenergetic function, we measured the effects of genetic variation across twelve different mitochondrial haplotypes on respiratory capacity and mitochondrial quantity in the fruit fly, Drosophila melanogaster. We used strains of flies that differed only in their mitochondrial haplotype, and tested each sex separately at two different adult ages. Mitochondrial haplotypes affected both respiratory capacity and mitochondrial quantity. However, these effects were highly context-dependent, with the genetic effects contingent on both the sex and the age of the flies. These sex- and age-specific genetic effects are likely to resonate across the entire organismal life-history, providing insights into how mitochondrial genetic variation may contribute to sex-specific trajectories of life-history evolution.

  16. The relative importance of genetic and environmental effects for the early stages of thyroid autoimmunity

    DEFF Research Database (Denmark)

    Hansen, Pia S; Brix, Thomas H; Iachine, Ivan;

    2006-01-01

    OBJECTIVE: In euthyroid individuals, autoantibodies to thyroid peroxidase (TPOab) and thyroglobulin (Tgab) are regarded as early markers of thyroid autoimmunity. Family and twin studies suggest that development of thyroid autoantibodies in first-degree relatives of patients with autoimmune thyroid...... disease is under genetic influence. We aimed to estimate the relative importance of genetic and environmental effects for the presence of thyroid autoantibodies in euthyroid subjects. METHODS: A representative sample of healthy twin pairs was identified through the Danish Twin Registry; 1372 individuals...... concordance and intraclass correlations were consistently higher for MZ than for DZ twin pairs indicating genetic influence. Genetic components (with 95% confidence intervals) accounted for 73% (46-89%) of the liability of being thyroid antibody positive. Adjusting for covariates (age, TSH and others...

  17. Genetic Background, Maternal Age, and Interaction Effects Mediate Rates of Crossing Over in Drosophila melanogaster Females.

    Science.gov (United States)

    Hunter, Chad M; Robinson, Matthew C; Aylor, David L; Singh, Nadia D

    2016-05-03

    Meiotic recombination is a genetic process that is critical for proper chromosome segregation in many organisms. Despite being fundamental for organismal fitness, rates of crossing over vary greatly between taxa. Both genetic and environmental factors contribute to phenotypic variation in crossover frequency, as do genotype-environment interactions. Here, we test the hypothesis that maternal age influences rates of crossing over in a genotypic-specific manner. Using classical genetic techniques, we estimated rates of crossing over for individual Drosophila melanogaster females from five strains over their lifetime from a single mating event. We find that both age and genetic background significantly contribute to observed variation in recombination frequency, as do genotype-age interactions. We further find differences in the effect of age on recombination frequency in the two genomic regions surveyed. Our results highlight the complexity of recombination rate variation and reveal a new role of genotype by maternal age interactions in mediating recombination rate.

  18. Genetic Background, Maternal Age, and Interaction Effects Mediate Rates of Crossing Over in Drosophila melanogaster Females

    Directory of Open Access Journals (Sweden)

    Chad M. Hunter

    2016-05-01

    Full Text Available Meiotic recombination is a genetic process that is critical for proper chromosome segregation in many organisms. Despite being fundamental for organismal fitness, rates of crossing over vary greatly between taxa. Both genetic and environmental factors contribute to phenotypic variation in crossover frequency, as do genotype–environment interactions. Here, we test the hypothesis that maternal age influences rates of crossing over in a genotypic-specific manner. Using classical genetic techniques, we estimated rates of crossing over for individual Drosophila melanogaster females from five strains over their lifetime from a single mating event. We find that both age and genetic background significantly contribute to observed variation in recombination frequency, as do genotype–age interactions. We further find differences in the effect of age on recombination frequency in the two genomic regions surveyed. Our results highlight the complexity of recombination rate variation and reveal a new role of genotype by maternal age interactions in mediating recombination rate.

  19. Modeling genetic imprinting effects of DNA sequences with multilocus polymorphism data

    Directory of Open Access Journals (Sweden)

    Staud Roland

    2009-08-01

    Full Text Available Abstract Single nucleotide polymorphisms (SNPs represent the most widespread type of DNA sequence variation in the human genome and they have recently emerged as valuable genetic markers for revealing the genetic architecture of complex traits in terms of nucleotide combination and sequence. Here, we extend an algorithmic model for the haplotype analysis of SNPs to estimate the effects of genetic imprinting expressed at the DNA sequence level. The model provides a general procedure for identifying the number and types of optimal DNA sequence variants that are expressed differently due to their parental origin. The model is used to analyze a genetic data set collected from a pain genetics project. We find that DNA haplotype GAC from three SNPs, OPRKG36T (with two alleles G and T, OPRKA843G (with alleles A and G, and OPRKC846T (with alleles C and T, at the kappa-opioid receptor, triggers a significant effect on pain sensitivity, but with expression significantly depending on the parent from which it is inherited (p = 0.008. With a tremendous advance in SNP identification and automated screening, the model founded on haplotype discovery and statistical inference may provide a useful tool for genetic analysis of any quantitative trait with complex inheritance.

  20. Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients.

    Science.gov (United States)

    George, Angela; Riddell, Daniel; Seal, Sheila; Talukdar, Sabrina; Mahamdallie, Shazia; Ruark, Elise; Cloke, Victoria; Slade, Ingrid; Kemp, Zoe; Gore, Martin; Strydom, Ann; Banerjee, Susana; Hanson, Helen; Rahman, Nazneen

    2016-07-13

    Advances in DNA sequencing have made genetic testing fast and affordable, but limitations of testing processes are impeding realisation of patient benefits. Ovarian cancer exemplifies the potential value of genetic testing and the shortcomings of current pathways to access testing. Approximately 15% of ovarian cancer patients have a germline BRCA1 or BRCA2 mutation which has substantial implications for their personal management and that of their relatives. Unfortunately, in most countries, routine implementation of BRCA testing for ovarian cancer patients has been inconsistent and largely unsuccessful. We developed a rapid, robust, mainstream genetic testing pathway in which testing is undertaken by the trained cancer team with cascade testing to relatives performed by the genetics team. 207 women with ovarian cancer were offered testing through the mainstream pathway. All accepted. 33 (16%) had a BRCA mutation. The result informed management of 79% (121/154) women with active disease. Patient and clinician feedback was very positive. The pathway offers a 4-fold reduction in time and 13-fold reduction in resource requirement compared to the conventional testing pathway. The mainstream genetic testing pathway we present is effective, efficient and patient-centred. It can deliver rapid, robust, large-scale, cost-effective genetic testing of BRCA1 and BRCA2 and may serve as an exemplar for other genes and other diseases.

  1. No influence of Indy on lifespan in Drosophila after correction for genetic and cytoplasmic background effects.

    Directory of Open Access Journals (Sweden)

    Janne M Toivonen

    2007-06-01

    Full Text Available To investigate whether alterations in mitochondrial metabolism affect longevity in Drosophila melanogaster, we studied lifespan in various single gene mutants, using inbred and outbred genetic backgrounds. As positive controls we included the two most intensively studied mutants of Indy, which encodes a Drosophila Krebs cycle intermediate transporter. It has been reported that flies heterozygous for these Indy mutations, which lie outside the coding region, show almost a doubling of lifespan. We report that only one of the two mutants lowers mRNA levels, implying that the lifespan extension observed is not attributable to the Indy mutations themselves. Moreover, neither Indy mutation extended lifespan in female flies in any genetic background tested. In the original genetic background, only the Indy mutation associated with altered RNA expression extended lifespan in male flies. However, this effect was abolished by backcrossing into standard outbred genetic backgrounds, and was associated with an unidentified locus on the X chromosome. The original Indy line with long-lived males is infected by the cytoplasmic symbiont Wolbachia, and the longevity of Indy males disappeared after tetracycline clearance of this endosymbiont. These findings underscore the critical importance of standardisation of genetic background and of cytoplasm in genetic studies of lifespan, and show that the lifespan extension previously claimed for Indy mutants was entirely attributable to confounding variation from these two sources. In addition, we saw no effects on lifespan of expression knockdown of the Indy orthologues nac-2 and nac-3 in the nematode Caenorhabditis elegans.

  2. Genetic Algorithms, Neural Networks, and Time Effectiveness Algorithm Based Air Combat Intelligence Simulation System

    Institute of Scientific and Technical Information of China (English)

    曾宪钊; 成冀; 安欣; 方礼明

    2002-01-01

    This paper introduces a new Air Combat Intelligence Simulation System (ACISS) in a 32 versus 32 air combat, describes three methods: Genetic Algorithms (GA) in the multi-targeting decision and Evading Missile Rule Base learning, Neural Networks (NN) in the maneuvering decision, and Time Effectiveness Algorithm (TEA) in the adjudicating an air combat and the evaluating evading missile effectiveness.

  3. Capturing the spectrum of interaction effects in genetic association studies by simulated evaporative cooling network analysis.

    Directory of Open Access Journals (Sweden)

    Brett A McKinney

    2009-03-01

    Full Text Available Evidence from human genetic studies of several disorders suggests that interactions between alleles at multiple genes play an important role in influencing phenotypic expression. Analytical methods for identifying Mendelian disease genes are not appropriate when applied to common multigenic diseases, because such methods investigate association with the phenotype only one genetic locus at a time. New strategies are needed that can capture the spectrum of genetic effects, from Mendelian to multifactorial epistasis. Random Forests (RF and Relief-F are two powerful machine-learning methods that have been studied as filters for genetic case-control data due to their ability to account for the context of alleles at multiple genes when scoring the relevance of individual genetic variants to the phenotype. However, when variants interact strongly, the independence assumption of RF in the tree node-splitting criterion leads to diminished importance scores for relevant variants. Relief-F, on the other hand, was designed to detect strong interactions but is sensitive to large backgrounds of variants that are irrelevant to classification of the phenotype, which is an acute problem in genome-wide association studies. To overcome the weaknesses of these data mining approaches, we develop Evaporative Cooling (EC feature selection, a flexible machine learning method that can integrate multiple importance scores while removing irrelevant genetic variants. To characterize detailed interactions, we construct a genetic-association interaction network (GAIN, whose edges quantify the synergy between variants with respect to the phenotype. We use simulation analysis to show that EC is able to identify a wide range of interaction effects in genetic association data. We apply the EC filter to a smallpox vaccine cohort study of single nucleotide polymorphisms (SNPs and infer a GAIN for a collection of SNPs associated with adverse events. Our results suggest an important

  4. Improving Decision Making about Genetic Testing in the Clinic: An Overview of Effective Knowledge Translation Interventions.

    Science.gov (United States)

    Légaré, France; Robitaille, Hubert; Gane, Claire; Hébert, Jessica; Labrecque, Michel; Rousseau, François

    2016-01-01

    Knowledge translation (KT) interventions are attempts to change behavior in keeping with scientific evidence. While genetic tests are increasingly available to healthcare consumers in the clinic, evidence about their benefits is unclear and decisions about genetic testing are thus difficult for all parties. We sought to identify KT interventions that involved decisions about genetic testing in the clinical context and to assess their effectiveness for improving decision making in terms of behavior change, increased knowledge and wellbeing. We searched for trials assessing KT interventions in the context of genetic testing up to March 2014 in all systematic reviews (n = 153) published by two Cochrane review groups: Effective Practice and Organisation of Care (EPOC) and Consumers and Communication. We retrieved 2473 unique trials of which we retained only 28 (1%). Two EPOC reviews yielded two trials of KT interventions: audit and feedback (n = 1) and educational outreach (n = 1). Both targeted health professionals and the KT intervention they assessed was found to be effective. Four Consumers and Communication reviews yielded 26 trials: decision aids (n = 15), communication of DNA-based disease risk estimates (n = 7), personalized risk communication (n = 3) and mobile phone messaging (n = 1). Among these, 25 trials targeted only health consumers or patients and the KT interventions were found to be effective in four trials, partly effective in seven, and ineffective in four. Lastly, only one trial targeted both physicians and patients and was found to be effective. More research on the effectiveness of KT interventions regarding genetic testing in the clinical context may contribute to patients making informed value-based decisions and drawing the maximum benefit from clinical applications of genetic and genomic innovations.

  5. Improving Decision Making about Genetic Testing in the Clinic: An Overview of Effective Knowledge Translation Interventions

    Science.gov (United States)

    Légaré, France; Robitaille, Hubert; Gane, Claire; Hébert, Jessica; Labrecque, Michel; Rousseau, François

    2016-01-01

    Background Knowledge translation (KT) interventions are attempts to change behavior in keeping with scientific evidence. While genetic tests are increasingly available to healthcare consumers in the clinic, evidence about their benefits is unclear and decisions about genetic testing are thus difficult for all parties. Objective We sought to identify KT interventions that involved decisions about genetic testing in the clinical context and to assess their effectiveness for improving decision making in terms of behavior change, increased knowledge and wellbeing. Methods We searched for trials assessing KT interventions in the context of genetic testing up to March 2014 in all systematic reviews (n = 153) published by two Cochrane review groups: Effective Practice and Organisation of Care (EPOC) and Consumers and Communication. Results We retrieved 2473 unique trials of which we retained only 28 (1%). Two EPOC reviews yielded two trials of KT interventions: audit and feedback (n = 1) and educational outreach (n = 1). Both targeted health professionals and the KT intervention they assessed was found to be effective. Four Consumers and Communication reviews yielded 26 trials: decision aids (n = 15), communication of DNA-based disease risk estimates (n = 7), personalized risk communication (n = 3) and mobile phone messaging (n = 1). Among these, 25 trials targeted only health consumers or patients and the KT interventions were found to be effective in four trials, partly effective in seven, and ineffective in four. Lastly, only one trial targeted both physicians and patients and was found to be effective. Conclusions More research on the effectiveness of KT interventions regarding genetic testing in the clinical context may contribute to patients making informed value-based decisions and drawing the maximum benefit from clinical applications of genetic and genomic innovations. PMID:26938633

  6. Improving Decision Making about Genetic Testing in the Clinic: An Overview of Effective Knowledge Translation Interventions.

    Directory of Open Access Journals (Sweden)

    France Légaré

    Full Text Available Knowledge translation (KT interventions are attempts to change behavior in keeping with scientific evidence. While genetic tests are increasingly available to healthcare consumers in the clinic, evidence about their benefits is unclear and decisions about genetic testing are thus difficult for all parties.We sought to identify KT interventions that involved decisions about genetic testing in the clinical context and to assess their effectiveness for improving decision making in terms of behavior change, increased knowledge and wellbeing.We searched for trials assessing KT interventions in the context of genetic testing up to March 2014 in all systematic reviews (n = 153 published by two Cochrane review groups: Effective Practice and Organisation of Care (EPOC and Consumers and Communication.We retrieved 2473 unique trials of which we retained only 28 (1%. Two EPOC reviews yielded two trials of KT interventions: audit and feedback (n = 1 and educational outreach (n = 1. Both targeted health professionals and the KT intervention they assessed was found to be effective. Four Consumers and Communication reviews yielded 26 trials: decision aids (n = 15, communication of DNA-based disease risk estimates (n = 7, personalized risk communication (n = 3 and mobile phone messaging (n = 1. Among these, 25 trials targeted only health consumers or patients and the KT interventions were found to be effective in four trials, partly effective in seven, and ineffective in four. Lastly, only one trial targeted both physicians and patients and was found to be effective.More research on the effectiveness of KT interventions regarding genetic testing in the clinical context may contribute to patients making informed value-based decisions and drawing the maximum benefit from clinical applications of genetic and genomic innovations.

  7. A genome-wide survey of transgenerational genetic effects in autism.

    Directory of Open Access Journals (Sweden)

    Kathryn M Tsang

    Full Text Available Effects of parental genotype or parent-offspring genetic interaction are well established in model organisms for a variety of traits. However, these transgenerational genetic models are rarely studied in humans. We have utilized an autism case-control study with 735 mother-child pairs to perform genome-wide screening for maternal genetic effects and maternal-offspring genetic interaction. We used simple models of single locus parent-child interaction and identified suggestive results (P<10(-4 that cannot be explained by main effects, but no genome-wide significant signals. Some of these maternal and maternal-child associations were in or adjacent to autism candidate genes including: PCDH9, FOXP1, GABRB3, NRXN1, RELN, MACROD2, FHIT, RORA, CNTN4, CNTNAP2, FAM135B, LAMA1, NFIA, NLGN4X, RAPGEF4, and SDK1. We attempted validation of potential autism association under maternal-specific models using maternal-paternal comparison in family-based GWAS datasets. Our results suggest that further study of parental genetic effects and parent-child interaction in autism is warranted.

  8. Emergency medical rescue efforts after a major earthquake: lessons from the 2008 Wenchuan earthquake.

    Science.gov (United States)

    Zhang, Lulu; Liu, Xu; Li, Youping; Liu, Yuan; Liu, Zhipeng; Lin, Juncong; Shen, Ji; Tang, Xuefeng; Zhang, Yi; Liang, Wannian

    2012-03-01

    Major earthquakes often result in incalculable environmental damage, loss of life, and threats to health. Tremendous progress has been made in response to many medical challenges resulting from earthquakes. However, emergency medical rescue is complicated, and great emphasis should be placed on its organisation to achieve the best results. The 2008 Wenchuan earthquake was one of the most devastating disasters in the past 10 years and caused more than 370,000 casualties. The lessons learnt from the medical disaster relief effort and the subsequent knowledge gained about the regulation and capabilities of medical and military back-up teams should be widely disseminated. In this Review we summarise and analyse the emergency medical rescue efforts after the Wenchuan earthquake. Establishment of a national disaster medical response system, an active and effective commanding system, successful coordination between rescue forces and government agencies, effective treatment, a moderate, timely and correct public health response, and long-term psychological support are all crucial to reduce mortality and morbidity and promote overall effectiveness of rescue efforts after a major earthquake.

  9. Age-related decline in brain resources modulates genetic effects on cognitive functioning

    Directory of Open Access Journals (Sweden)

    Ulman Lindenberger

    2008-12-01

    Full Text Available Individual differences in cognitive performance increase from early to late adulthood, likely reflecting influences of a multitude of factors. We hypothesize that losses in neurochemical and anatomical brain resources in normal aging modulate the effects of common genetic variations on cognitive functioning. Our hypothesis is based on the assumption that the function relating brain resources to cognition is nonlinear, so that genetic differences exert increasingly large effects on cognition as resources recede from high to medium levels in the course of aging.Direct empirical support for this hypothesis comes from a study by Nagel et al. (2008, who reported that the effects of the Catechol-O-Methyltransferase (COMT gene on cognitive performance are magnified in old age and interacted with the Brain-Derived Neurotrophic Factor (BDNF gene. We conclude that common genetic polymorphisms contribute to the increasing heterogeneity of cognitive functioning in old age. Extensions of the hypothesis to other polymorphisms are discussed.

  10. Age-Related Decline in Brain Resources Modulates Genetic Effects on Cognitive Functioning

    Science.gov (United States)

    Lindenberger, Ulman; Nagel, Irene E.; Chicherio, Christian; Li, Shu-Chen; Heekeren, Hauke R.; Bäckman, Lars

    2008-01-01

    Individual differences in cognitive performance increase from early to late adulthood, likely reflecting influences of a multitude of factors. We hypothesize that losses in neurochemical and anatomical brain resources in normal aging modulate the effects of common genetic variations on cognitive functioning. Our hypothesis is based on the assumption that the function relating brain resources to cognition is nonlinear, so that genetic differences exert increasingly large effects on cognition as resources recede from high to medium levels in the course of aging. Direct empirical support for this hypothesis comes from a study by Nagel et al. (2008), who reported that the effects of the Catechol-O-Methyltransferase (COMT) gene on cognitive performance are magnified in old age and interacted with the Brain-Derived Neurotrophic Factor (BDNF) gene. We conclude that common genetic polymorphisms contribute to the increasing heterogeneity of cognitive functioning in old age. Extensions of the hypothesis to other polymorphisms are discussed. (150 of 150 words) PMID:19225597

  11. Parental genetic effects in a cavefish adaptive behavior explain disparity between nuclear and mitochondrial DNA.

    Science.gov (United States)

    Yoshizawa, Masato; Ashida, Go; Jeffery, William R

    2012-09-01

    Epigenetic parental genetic effects are important in many biological processes but their roles in the evolution of adaptive traits and their consequences in naturally evolving populations remain to be addressed. By comparing two divergent blind cave-dwelling cavefish populations with a sighted surface-dwelling population (surface fish) of the teleost Astyanax mexicanus, we report here that convergences in vibration attraction behavior (VAB), the lateral line sensory receptors underlying this behavior, and the feeding benefits of this behavior are controlled by parental genetic effects, either maternal or paternal inheritance. From behavioral studies and mathematical evolutionary simulations, we further demonstrate that disparity in nuclear and mitochondrial DNA in one of these cavefish populations that has hybridized with surface fish can be explained by paternal inheritance of VAB. The results suggest that parental genetic effects in adaptive behaviors may be important factors in biasing mitochondrial DNA inheritance in natural populations that are subject to introgression.

  12. The effect of genetically engineered glucagon on glucose recovery after hypoglycaemia in man

    DEFF Research Database (Denmark)

    Hvidberg, A; Jørgensen, S; Hilsted, J

    1992-01-01

    To compare the effect on glucose recovery after insulin-induced hypoglycaemia of intramuscular genetically engineered glucagon, intramuscular glucagon from pancreatic extraction and intravenous glucose, we examined 10 healthy subjects during blockage of glucose counterregulation with somatostatin...... appearance rate were far more protracted after i.m. glucagon than after i.v. glucose. These results suggest that genetically engineered glucagon and glucagon from pancreatic extraction have a similar effect on hepatic glucose production rate. Due to the protracted effect of intramuscular glucagon, a combined......, propranolol and phentolamine. Each subject was studied on three separate occasions. Thirty min after a bolus injection of 0.075 iu soluble insulin per kilogram body weight the subjects received one of the following treatments: 1 mg glucagon from pancreatic extraction intramuscularly; 1 mg genetically...

  13. Genetic parameters and crossbreeding effects of fat deposition and fatty acid profiles in Iberian pig lines.

    Science.gov (United States)

    Ibáñez-Escriche, N; Magallón, E; Gonzalez, E; Tejeda, J F; Noguera, J L

    2016-01-01

    The aim of this study was to estimate the genetic and environmental parameters and crossbreeding effects on fatty acid and fat traits in the Iberian pig. Our final goal is to explore target selection traits and define crossbreeding strategies. The phenotypes were obtained under intensive management from 470 animals in a diallelic experiment involving Retinto, Torbiscal, and Entrepelado lines. The data set was composed of backfat thickness at the fourth rib (BFT), intramuscular fat (IMF) in the longissimus thoracis (LT), and the fatty acid profile for IMF and subcutaneous fat (SCF) traits. Data were analyzed through a Bayesian bivariate animal model by using a reparameterization of Dickerson's model. The results obtained showed an important genetic determinism for all traits analyzed with heritability ranging from 0.09 to 0.67. The common environment litter effect also had an important effect on IMF (0.34) and its fatty acid composition (0.06-0.53) at slaughter. The additive genetic correlation between BFT and IMF (additive genetic correlation [] = 0.31) suggested that it would be possible to improve lean growth independent of the IMF with an appropriate selection index. Furthermore, the high additive genetic correlation ( = 0.68) found between MUFA tissues would seem to indicate that either the LT or SCF could be used as the reference tissue for MUFA selection. The relevance of the crossbreeding parameters varied according to the traits analyzed. Backfat thickness at the fourth rib and the fatty acid profile of the IMF showed relevant differences between crosses, mostly due to line additive genetic effects associated with the Retinto line. On the contrary, those for IMF crosses were probably mainly attributable to heterosis effects. Particularly, heterosis effects were relevant for the Retinto and Entrepelado crosses (approximately 16% of the trait), which could be valuable for a crossbreeding system involving these lines.

  14. Unintended effects and their detection in genetically modified crops

    DEFF Research Database (Denmark)

    Cellini, F; Chesson, A; Colquhoun, I

    2004-01-01

    The commercialisation of GM crops in Europe is practically non-existent at the present time. The European Commission has instigated changes to the regulatory process to address the concerns of consumers and member states and to pave the way for removing the current moratorium. With regard...... to the safety of GM crops and products, the current risk assessment process pays particular attention to potential adverse effects on human and animal health and the environment. This document deals with the concept of unintended effects in GM crops and products, i.e. effects that go beyond that of the original...

  15. Population genetics and the effects of a severe bottleneck in an ex situ population of critically endangered Hawaiian tree snails.

    Science.gov (United States)

    Price, Melissa R; Hadfield, Michael G

    2014-01-01

    As wild populations decline, ex situ propagation provides a potential bank of genetic diversity and a hedge against extinction. These programs are unlikely to succeed if captive populations do not recover from the severe bottleneck imposed when they are founded with a limited number of individuals from remnant populations. In small captive populations allelic richness may be lost due to genetic drift, leading to a decline in fitness. Wild populations of the Hawaiian tree snail Achatinella lila, a hermaphroditic snail with a long life history, have declined precipitously due to introduced predators and other human impacts. A captive population initially thrived after its founding with seven snails, exceeding 600 captive individuals in 2009, but drastically declined in the last five years. Measures of fitness were examined from 2,018 captive snails that died between 1998 and 2012, and compared with genotypic data for six microsatellite loci from a subset of these deceased snails (N = 335), as well as live captive snails (N = 198) and wild snails (N = 92). Surprisingly, the inbreeding coefficient (Fis) declined over time in the captive population, and is now approaching values observed in the 2013 wild population, despite a significant decrease in allelic richness. However, adult annual survival and fecundity significantly declined in the second generation. These measures of fitness were positively correlated with heterozygosity. Snails with higher measures of heterozygosity had more offspring, and third generation offspring with higher measures of heterozygosity were more likely to reach maturity. These results highlight the importance of maintaining genetic diversity in captive populations, particularly those initiated with a small number of individuals from wild remnant populations. Genetic rescue may allow for an increase in genetic diversity in the captive population, as measures of heterozygosity and rarified allelic richness were higher in wild tree

  16. Rescue of a vaccine strain of peste des petits ruminants virus: In vivo evaluation and comparison with standard vaccine.

    Science.gov (United States)

    Muniraju, Murali; Mahapatra, Mana; Buczkowski, Hubert; Batten, Carrie; Banyard, Ashley C; Parida, Satya

    2015-01-09

    Across the developing world peste des petits ruminants virus places a huge disease burden on agriculture, primarily affecting the production of small ruminant. The disease is most effectively controlled by vaccinating sheep and goats with live attenuated vaccines that provide lifelong immunity. However, the current vaccines and serological tests are unable to enable Differentiation between naturally Infected and Vaccinated Animals (DIVA). This factor precludes meaningful assessment of vaccine coverage and epidemiological surveillance based on serology, in turn reducing the efficiency of control programmes. The availability of a recombinant PPRV vaccine with a proven functionality is a prerequisite for the development of novel vaccines that may enable the development of DIVA tools for PPRV diagnostics. In this study, we have established an efficient reverse genetics system for PPRV Nigeria 75/1 vaccine strain and, further rescued a version of PPRV Nigeria 75/1 vaccine strain that expresses eGFP as a novel transcription cassette and a version of PPRV Nigeria 75/1 vaccine strain with mutations in the haemagglutinin (H) gene to enable DIVA through disruption of binding to H by the C77 monoclonal antibody used in the competitive (c) H-ELISA. All three rescued viruses showed similar growth characteristics in vitro in comparison to parent vaccine strain and, following in vivo assessment the H mutant provided full protection in goats. Although the C77 monoclonal antibody used in the cH-ELISA was unable to bind to the mutated form of H in vitro, the mutation was not sufficient to enable DIVA in vivo.

  17. Bortezomib (PS-341 treatment decreases inflammation and partially rescues the expression of the dystrophin-glycoprotein complex in GRMD dogs.

    Directory of Open Access Journals (Sweden)

    Karla P C Araujo

    Full Text Available Golden retriever muscular dystrophy (GRMD is a genetic myopathy corresponding to Duchenne muscular dystrophy (DMD in humans. Muscle atrophy is known to be associated with degradation of the dystrophin-glycoprotein complex (DGC via the ubiquitin-proteasome pathway. In the present study, we investigated the effect of bortezomib treatment on the muscle fibers of GRMD dogs. Five GRMD dogs were examined; two were treated (TD- Treated dogs with the proteasome inhibitor bortezomib, and three were control dogs (CD. Dogs were treated with bortezomib using the same treatment regimen used for multiple myeloma. Pharmacodynamics were evaluated by measuring the inhibition of 20S proteasome activity in whole blood after treatment and comparing it to that in CD. We performed immunohistochemical studies on muscle biopsy specimens to evaluate the rescue of dystrophin and dystrophin-associated proteins in the muscles of GRMD dogs treated with bortezomib. Skeletal tissue from TD had lower levels of connective tissue deposition and inflammatory cell infiltration than CD as determined by histology, collagen morphometry and ultrastructural analysis. The CD showed higher expression of phospho-NFκB and TGF-β1, suggesting a more pronounced activation of anti-apoptotic factors and inflammatory molecules and greater connective tissue deposition, respectively. Immunohistochemical analysis demonstrated that dystrophin was not present in the sarcoplasmic membrane of either group. However, bortezomib-TD showed higher expression of α- and β-dystroglycan, indicating an improved disease histopathology phenotype. Significant inhibition of 20S proteasome activity was observed 1 hour after bortezomib administration in the last cycle when the dose was higher. Proteasome inhibitors may thus improve the appearance of GRMD muscle fibers, lessen connective tissue deposition and reduce the infiltration of inflammatory cells. In addition, proteasome inhibitors may rescue some

  18. Emotional Reactions of Rescue Workers Following a Tornado.

    Science.gov (United States)

    McCammon, Susan L.; And Others

    Rescue and medical workers may be at risk for negative emotional experience following intervention efforts in disaster situations. To examine this possibility, 120 rescue and hospital personnel responded to a survey of their emotional reactions and coping behaviors 3 months after a devastating tornado. Twenty-eight subjects had been involved in…

  19. Evaluating The RoboCup 2009 Virtual Robot Rescue Competition

    NARCIS (Netherlands)

    Balakirsky, S.; Carpin, S.; Visser, A.

    2009-01-01

    The 2009 RoboCup Competitions took place in Graz Austria in July of 2009. The Virtual Robot Rescue Competition included 11 competitors from 10 different countries. The main objective of this competition is to utilize teams of robots to perform an urban search and rescue (USAR) mission over both indo

  20. The stabilizing effects of genetic diversity on predator-prey dynamics.

    Science.gov (United States)

    Steiner, Christopher F; Masse, Jordan

    2013-01-01

    Heterogeneity among prey in their susceptibility to predation is a potentially important stabilizer of predator-prey interactions, reducing the magnitude of population oscillations and enhancing total prey population abundance. When microevolutionary responses of prey populations occur at time scales comparable to population dynamics, adaptive responses in prey defense can, in theory, stabilize predator-prey dynamics and reduce top-down effects on prey abundance. While experiments have tested these predictions, less explored are the consequences of the evolution of prey phenotypes that can persist in both vulnerable and invulnerable classes. We tested this experimentally using a laboratory aquatic system composed of the rotifer Brachionus calyciflorus as a predator and the prey Synura petersenii, a colony-forming alga that exhibits genetic variation in its propensity to form colonies and colony size (larger colonies are a defense against predators). Prey populations of either low initial genetic diversity and low adaptive capacity or high initial genetic diversity and high adaptive capacity were crossed with predator presence and absence. Dynamics measured over the last 127 days of the 167-day experiment revealed no effects of initial prey genetic diversity on the average abundance or temporal variability of predator populations. However, genetic diversity and predator presence/absence interactively affected prey population abundance and stability; diversity of prey had no effects in the absence of predators but stabilized dynamics and increased total prey abundance in the presence of predators. The size structure of the genetically diverse prey populations diverged from single strain populations in the presence of predators, showing increases in colony size and in the relative abundance of cells found in colonies. Our work sheds light on the adaptive value of colony formation and supports the general view that genetic diversity and intraspecific trait variation of

  1. Evacuation, escape and rescue west of Shetlands

    Energy Technology Data Exchange (ETDEWEB)

    Gallagher, P.; Moran, K.C.

    1998-01-01

    This report has been prepared by WS Atkins Science and Technology on behalf of the Offshore Safety Division of the Health and Safety Executive. It concerns a study into the availability and operability of a range of production platform evacuation and rescue methods which are likely to be used in new field developments in the West of Shetland basin. The research involves an examination of the key factors influencing emergency response arrangements for the West of Shetland sea area. It includes a review of the types of facility envisaged and manning levels, the type of emergency support available to each facility, the availability of helicopters and SAR services. The research also provides comparisons, where appropriate, with both current practice and environmental limitations in the North Sea. (author)

  2. Rescue from replication stress during mitosis.

    Science.gov (United States)

    Fragkos, Michalis; Naim, Valeria

    2017-04-03

    Genomic instability is a hallmark of cancer and a common feature of human disorders, characterized by growth defects, neurodegeneration, cancer predisposition, and aging. Recent evidence has shown that DNA replication stress is a major driver of genomic instability and tumorigenesis. Cells can undergo mitosis with under-replicated DNA or unresolved DNA structures, and specific pathways are dedicated to resolving these structures during mitosis, suggesting that mitotic rescue from replication stress (MRRS) is a key process influencing genome stability and cellular homeostasis. Deregulation of MRRS following oncogene activation or loss-of-function of caretaker genes may be the cause of chromosomal aberrations that promote cancer initiation and progression. In this review, we discuss the causes and consequences of replication stress, focusing on its persistence in mitosis as well as the mechanisms and factors involved in its resolution, and the potential impact of incomplete replication or aberrant MRRS on tumorigenesis, aging and disease.

  3. Teleautonomous Control on Rescue Robot Prototype

    Directory of Open Access Journals (Sweden)

    Son Kuswadi

    2012-12-01

    Full Text Available Robot application in disaster area can help responder team to save victims. In order to finish task, robot must have flexible movement mechanism so it can pass through uncluttered area. Passive linkage can be used on robot chassis so it can give robot flexibility. On physical experiments, robot is succeeded to move through gravels and 5 cm obstacle. Rescue robot also has specialized control needs. Robot must able to be controlled remotely. It also must have ability to move autonomously. Teleautonomous control method is combination between those methods. It can be concluded from experiments that on teleoperation mode, operator must get used to see environment through robot’s camera. While on autonomous mode, robot is succeeded to avoid obstacle and search target based on sensor reading and controller program. On teleautonomous mode, robot can change control mode by using bluetooth communication for data transfer, so robot control will be more flexible.

  4. Understanding the genetic effects of recent habitat fragmentation in the context of evolutionary history: phylogeography and landscape genetics of a southern California endemic Jerusalem cricket (Orthoptera: Stenopelmatidae: Stenopelmatus).

    Science.gov (United States)

    Vandergast, Amy G; Bohonak, Andrew J; Weissman, David B; Fisher, Robert N

    2007-03-01

    Habitat loss and fragmentation due to urbanization are the most pervasive threats to biodiversity in southern California. Loss of habitat and fragmentation can lower migration rates and genetic connectivity among remaining populations of native species, reducing genetic variability and increasing extinction risk. However, it may be difficult to separate the effects of recent anthropogenic fragmentation from the genetic signature of prehistoric fragmentation due to previous natural geological and climatic changes. To address these challenges, we examined the phylogenetic and population genetic structure of a flightless insect endemic to cismontane southern California, Stenopelmatus'mahogani' (Orthoptera: Stenopelmatidae). Analyses of mitochondrial DNA sequence data suggest that diversification across southern California began during the Pleistocene, with most haplotypes currently restricted to a single population. Patterns of genetic divergence correlate with contemporary urbanization, even after correcting for (geographical information system) GIS-based reconstructions of fragmentation during the Pleistocene. Theoretical simulations confirm that contemporary patterns of genetic structure could be produced by recent urban fragmentation using biologically reasonable assumptions about model parameters. Diversity within populations was positively correlated with current fragment size, but not prehistoric fragment size, suggesting that the effects of increased drift following anthropogenic fragmentation are already being seen. Loss of genetic connectivity and diversity can hinder a population's ability to adapt to ecological perturbations commonly associated with urbanization, such as habitat degradation, climatic changes and introduced species. Consequently, our results underscore the importance of preserving and restoring landscape connectivity for long-term persistence of low vagility native species.

  5. Understanding the genetic effects of recent habitat fragmentation in the context of evolutionary history: Phylogeography and landscape genetics of a southern California endemic Jerusalem cricket (Orthoptera: Stenopelmatidae: Stenopelmatus)

    Science.gov (United States)

    Vandergast, A.G.; Bohonak, A.J.; Weissman, D.B.; Fisher, R.N.

    2007-01-01

    Habitat loss and fragmentation due to urbanization are the most pervasive threats to biodiversity in southern California. Loss of habitat and fragmentation can lower migration rates and genetic connectivity among remaining populations of native species, reducing genetic variability and increasing extinction risk. However, it may be difficult to separate the effects of recent anthropogenic fragmentation from the genetic signature of prehistoric fragmentation due to previous natural geological and climatic changes. To address these challenges, we examined the phylogenetic and population genetic structure of a flightless insect endemic to cismontane southern California, Stenopelmatus 'mahogani' (Orthoptera: Stenopelmatidae). Analyses of mitochondrial DNA sequence data suggest that diversification across southern California began during the Pleistocene, with most haplotypes currently restricted to a single population. Patterns of genetic divergence correlate with contemporary urbanization, even after correcting for (geographical information system) GIS-based reconstructions of fragmentation during the Pleistocene. Theoretical simulations confirm that contemporary patterns of genetic structure could be produced by recent urban fragmentation using biologically reasonable assumptions about model parameters. Diversity within populations was positively correlated with current fragment size, but not prehistoric fragment size, suggesting that the effects of increased drift following anthropogenic fragmentation are already being seen. Loss of genetic connectivity and diversity can hinder a population's ability to adapt to ecological perturbations commonly associated with urbanization, such as habitat degradation, climatic changes and introduced species. Consequently, our results underscore the importance of preserving and restoring landscape connectivity for long-term persistence of low vagility native species. Journal compilation ?? 2006 Blackwell Publishing Ltd.

  6. Genetic effects of radio-frequency, atmospheric-pressure glow discharges with helium

    Science.gov (United States)

    Li, Guo; Li, He-Ping; Wang, Li-Yan; Wang, Sen; Zhao, Hong-Xin; Sun, Wen-Ting; Xing, Xin-Hui; Bao, Cheng-Yu

    2008-06-01

    Due to low gas temperatures and high densities of active species, atmospheric-pressure glow discharges (APGDs) would have potential applications in the fields of plasma-based sterilization, gene mutation, etc. In this letter, the genetic effects of helium radio-frequency APGD plasmas with the plasmid DNA and oligonucleotide as the treated biomaterials are presented. The experimental results show that it is the chemically active species, instead of heat, ultraviolet radiation, intense electric field, and/or charged particles, that break the double chains of the plasmid DNA. The genetic effects depend on the plasma operating parameters, e.g., power input, helium flow rate, processing distance, time, etc.

  7. Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan.

    Science.gov (United States)

    Chen, Ying-Erh; Kao, Sung-Shuo; Chung, Ren-Hua

    2016-01-01

    Patients with Lynch syndrome (LS) have a significantly increased risk of developing colorectal cancer (CRC) and other cancers. Genetic screening for LS among patients with newly diagnosed CRC aims to identify mutations in the disease-causing genes (i.e., the DNA mismatch repair genes) in the patients, to offer genetic testing for relatives of the patients with the mutations, and then to provide early prevention for the relatives with the mutations. Several genetic tests are available for LS, such as DNA sequencing for MMR genes and tumor testing using microsatellite instability and immunohistochemical analyses. Cost-effectiveness analyses of different genetic testing strategies for LS have been performed in several studies from different countries such as the US and Germany. However, a cost-effectiveness analysis for the testing has not yet been performed in Taiwan. In this study, we evaluated the cost-effectiveness of four genetic testing strategies for LS described in previous studies, while population-specific parameters, such as the mutation rates of the DNA mismatch repair genes and treatment costs for CRC in Taiwan, were used. The incremental cost-effectiveness ratios based on discounted life years gained due to genetic screening were calculated for the strategies relative to no screening and to the previous strategy. Using the World Health Organization standard, which was defined based on Taiwan's Gross Domestic Product per capita, the strategy based on immunohistochemistry as a genetic test followed by BRAF mutation testing was considered to be highly cost-effective relative to no screening. Our probabilistic sensitivity analysis results also suggest that the strategy has a probability of 0.939 of being cost-effective relative to no screening based on the commonly used threshold of $50,000 to determine cost-effectiveness. To the best of our knowledge, this is the first cost-effectiveness analysis for evaluating different genetic testing strategies for LS in

  8. Detrimental effects of an autosomal selfish genetic element on sperm competitiveness in house mice.

    Science.gov (United States)

    Sutter, Andreas; Lindholm, Anna K

    2015-07-22

    Female multiple mating (polyandry) is widespread across many animal taxa and indirect genetic benefits are a major evolutionary force favouring polyandry. An incentive for polyandry arises when multiple mating leads to sperm competition that disadvantages sperm from genetically inferior mates. A reduction in genetic quality is associated with costly selfish genetic elements (SGEs), and studies in invertebrates have shown that males bearing sex ratio distorting SGEs are worse sperm competitors than wild-type males.We used a vertebrate model species to test whether females can avoid an autosomal SGE, the t haplotype, through polyandry. The t haplotype inhouse mice exhibits strong drive in t heterozygous males by affecting spermatogenesis and is associated with homozygous in utero lethality. We used controlled matings to test the effect of the t haplotype on sperm competitiveness. Regardless of mating order, t heterozygous males sired only 11% of zygotes when competing against wild-type males, suggesting a very strong effect of the t haplotype on sperm quality. We provide, to our knowledge,the first substantial evidence that polyandry ameliorates the harmful effects of an autosomal SGE arising through genetic incompatibility. We discuss potential mechanisms in our study species and the broader implications for the benefits of polyandry.

  9. Genetic effects of air pollution on forest tree species of the Carpathian Mountains

    Energy Technology Data Exchange (ETDEWEB)

    Longauer, Roman; Goemoery, Dusan; Paule, Ladislav; Blada, Ioan; Popescu, Flaviu; Mankovska, Blanka; Mueller-Starck, Gerhard; Schubert, Roland; Percy, Kevin; Szaro, Robert C.; Karnosky, David F

    2004-07-01

    The effects of air pollution on the genetic structure of Norway spruce, European silver fir and European beech were studied at four polluted sites in Slovakia, Romania and Czech Republic. In order to reduce potential effects of site heterogeneity on the health condition, pair-wise sampling of pollution-tolerant and sensitive trees was applied. Genotypes of sampled trees were determined at 21 isozyme gene loci of spruce, 18 loci of fir and 15 loci of beech. In comparison with Norway spruce, fewer genetic differences were revealed in beech and almost no differentiation between pollution-tolerant and sensitive trees was observed in fir. In adult stands of Norway spruce, sensitive trees exhibited higher genetic multiplicity and diversity. The decline of pollution-sensitive trees may result thus in a gradual genetic depletion of pollution-exposed populations of Norway spruce through the loss of less frequent alleles with potential adaptive significance to altered stressing regimes in the future. Comparison of the subsets of sensitive and tolerant Norway spruce individuals as determined by presence or absence of discolorations (''spruce yellowing'') revealed different heterozygosity at 3 out of 11 polymorphic loci. - Genetic effects of air pollution on main forest trees of the Carpathians are species- and site-specific.

  10. Effect of Brahman genetic influence on collagen enzymatic crosslinking gene expression and meat tenderness.

    Science.gov (United States)

    Gonzalez, J M; Johnson, D D; Elzo, M A; White, M C; Stelzleni, A M; Johnson, S E

    2014-01-01

    The objective of the study was to examine the effect of Brahman genetics on collagen enzymatic crosslinking gene expression and meat tenderness. Steers were randomly selected to represent a high percentage Brahman genetics (n = 13), Half-Blood genetics (n = 13), Brangus genetics (n = 13), and a high percentage Angus genetics (n = 13). Muscle samples from the Longissimus lumborum muscle were collected at weaning and harvest and reverse transcription quantitative PCR (qPCR) analysis was conducted to measure the mRNA expression of lysyl oxidase (LOX), bone morphogenetic protein 1 (BMP1), and cystatin C (CYS). Steaks from subject animals were collected at harvest, aged for 14 d and subjected to collagen analysis, Warner-Bratzler Shear Force (WBS) and trained sensory panel analysis (tenderness, juiciness, and connective tissue). Data indicated that Half-Blood and Brahman steers had greater (PBrahman and Half-Blood steaks when compared to Angus and Brangus steaks (P 0.10). At harvest, Brangus and Angus steers had greater LOX mRNA expression than Brahman cattle (P Brahman genetic influence.

  11. Effect of specialization on genetic parameters of studbook-entry inspection in Dutch Warmblood horses.

    Science.gov (United States)

    Rovere, G; Madsen, P; Norberg, E; van Arendonk, J A M; Ducro, B J

    2015-12-01

    Recent studies on data from the Dutch Warmblood Studbook (KWPN) have shown that the ongoing specialization of horses for either dressage (DH) or show jumping (JH) has led to a decreasing genetic relationship between the two subpopulations. The aim of this study was to analyse the effect of the specialization process on the genetic parameters of traits measured in the studbook-entry inspection of KWPN during the last fifteen years. Data from 18,125 DH and 23,800 JH recorded from 1998 until 2013 were used to analyse 13 traits scored in both DH and JH. Analyses were performed in a Bayesian framework. Firstly, variance components were estimated based on the whole data set. Secondly, genetic correlations between traits measured in DH or JH were estimated using bivariate analyses. Thirdly, three time periods were defined and genetic correlations between subpopulations were estimated within each period. Heritability was moderate (0.17-0.39) for both DH and JH. Genetic correlations between traits measured in DH or JH were not different from one considering the posterior standard deviation of the estimation; however, in most of the traits, a clear trend in reduction of the genetic correlation for traits expressed in DH and JH and an increase in their posterior standard deviation for recent years was observed. These results suggest that specialization could lead to differences in traits measured in DH and JH in the recent years.

  12. 'Battling my biology': psychological effects of genetic testing for risk of weight gain.

    Science.gov (United States)

    Meisel, S F; Wardle, J

    2014-04-01

    The availability of genetic tests for multifactorial conditions such as obesity raises concerns that higher-risk results could lead to fatalistic reactions or lower-risk results to complacency. No study has investigated the effects of genetic test feedback for the risk of obesity in non-clinical samples. The present study explored psychological and behavioral reactions to genetic test feedback for a weight related gene (FTO) in a volunteer sample (n = 18) using semi-structured interviews. Respondents perceived the gene test result as scientifically objective; removing some of the emotion attached to the issue of weight control. Those who were struggling with weight control reported relief of self-blame. There was no evidence for either complacency or fatalism; all respondents emphasized the importance of lifestyle choices in long-term weight management, although they recognized the role of both genes and environment. Regardless of the test result, respondents evaluated the testing positively and found it motivating and informative. Genetic test feedback for risk of weight gain may offer psychological benefits beyond its objectively limited clinical utility. As the role of genetic counselors is likely to expand, awareness of reasons for genetic testing for common, complex conditions and reactions to the test result is important.

  13. Rejection of a serial founder effects model of genetic and linguistic coevolution.

    Science.gov (United States)

    Hunley, Keith; Bowern, Claire; Healy, Meghan

    2012-06-07

    Recent genetic studies attribute the negative correlation between population genetic diversity and distance from Africa to a serial founder effects (SFE) evolutionary process. A recent linguistic study concluded that a similar decay in phoneme inventories in human languages was also the product of the SFE process. However, the SFE process makes additional predictions for patterns of neutral genetic diversity, both within and between groups, that have not yet been tested on phonemic data. In this study, we describe these predictions and test them on linguistic and genetic samples. The linguistic sample consists of 725 widespread languages, which together contain 908 distinct phonemes. The genetic sample consists of 614 autosomal microsatellite loci in 100 widespread populations. All aspects of the genetic pattern are consistent with the predictions of SFE. In contrast, most of the predictions of SFE are violated for the phonemic data. We show that phoneme inventories provide information about recent contacts between languages. However, because phonemes change rapidly, they cannot provide information about more ancient evolutionary processes.

  14. The Generalized Higher Criticism for Testing SNP-Set Effects in Genetic Association Studies.

    Science.gov (United States)

    Barnett, Ian; Mukherjee, Rajarshi; Lin, Xihong

    2017-01-01

    It is of substantial interest to study the effects of genes, genetic pathways, and networks on the risk of complex diseases. These genetic constructs each contain multiple SNPs, which are often correlated and function jointly, and might be large in number. However, only a sparse subset of SNPs in a genetic construct is generally associated with the disease of interest. In this article, we propose the generalized higher criticism (GHC) to test for the association between an SNP set and a disease outcome. The higher criticism is a test traditionally used in high-dimensional signal detection settings when marginal test statistics are independent and the number of parameters is very large. However, these assumptions do not always hold in genetic association studies, due to linkage disequilibrium among SNPs and the finite number of SNPs in an SNP set in each genetic construct. The proposed GHC overcomes the limitations of the higher criticism by allowing for arbitrary correlation structures among the SNPs in an SNP-set, while performing accurate analytic p-value calculations for any finite number of SNPs in the SNP-set. We obtain the detection boundary of the GHC test. We compared empirically using simulations the power of the GHC method with existing SNP-set tests over a range of genetic regions with varied correlation structures and signal sparsity. We apply the proposed methods to analyze the CGEM breast cancer genome-wide association study. Supplementary materials for this article are available online.

  15. Identification of MAC1: A Small Molecule That Rescues Spindle Bipolarity in Monastrol-Treated Cells.

    Science.gov (United States)

    Al-Obaidi, Naowras; Mitchison, Timothy J; Crews, Craig M; Mayer, Thomas U

    2016-06-17

    The genetic integrity of each organism is intimately tied to the correct segregation of its genome during mitosis. Insights into the underlying mechanisms are fundamental for both basic research and the development of novel strategies to treat mitosis-relevant diseases such as cancer. Due to their fast mode of action, small molecules are invaluable tools to dissect mitosis. Yet, there is a great demand for novel antimitotic compounds. We performed a chemical genetic suppression screen to identify compounds that restore spindle bipolarity in cells treated with Monastrol, an inhibitor of the mitotic kinesin Eg5. We identified one compound-MAC1-that rescued spindle bipolarity in cells lacking Eg5 activity. Mechanistically, MAC1 induces the formation of additional microtubule nucleation centers, which allows kinesin Kif15-dependent bipolar spindle assembly in the absence of Eg5 activity. Thus, our chemical genetic suppression screen revealed novel unexpected insights into the mechanism of spindle assembly in mammalian cells.

  16. Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants

    Science.gov (United States)

    Traglia, Michela; Croen, Lisa A.; Lyall, Kristen; Windham, Gayle C.; Kharrazi, Marty; DeLorenze, Gerald N.; Torres, Anthony R.; Weiss, Lauren A.

    2017-01-01

    Maternal exposure to environmental pollutants could affect fetal brain development and increase autism spectrum disorder (ASD) risk in conjunction with differential genetic susceptibility. Organohalogen congeners measured in maternal midpregnancy blood samples have recently shown significant, but negative associations with offspring ASD outcome. We report the first large-scale maternal and fetal genetic study of the midpregnancy serum levels of a set of 21 organohalogens in a subset of 790 genotyped women and 764 children collected in California by the Early Markers for Autism (EMA) Project. Levels of PCB (polychlorinated biphenyl) and PBDE (polybrominated diphenyl ether) congeners showed high maternal and fetal estimated SNP-based heritability (h2g) accounting for 39–99% of the total variance. Genome-wide association analyses identified significant maternal loci for p,p′-DDE (P = 7.8 × 10−11) in the CYP2B6 gene and for BDE-28 (P = 3.2 × 10−8) near the SH3GL2 gene, both involved in xenobiotic and lipid metabolism. Fetal genetic loci contributed to the levels of BDE-100 (P = 4.6 × 10−8) and PCB187 (P = 2.8 × 10−8), near the potential metabolic genes LOXHD1 and PTPRD, previously implicated in neurodevelopment. Negative associations were observed for BDE-100, BDE153, and the sum of PBDEs with ASD, partly explained by genome-wide additive genetic effects that predicted PBDE levels. Our results support genetic control of midgestational biomarkers for environmental exposures by nonoverlapping maternal and fetal genetic determinants, suggesting that future studies of environmental risk factors should take genetic variation into consideration. The independent influence of fetal genetics supports previous hypotheses that fetal genotypes expressed in placenta can influence maternal physiology and the transplacental transfer of organohalogens. PMID:28235828

  17. Robot-Assisted Risky Intervention, Search, Rescue and Environmental Surveillance

    Directory of Open Access Journals (Sweden)

    Maki K. Habib

    2010-02-01

    Full Text Available Technology has become the solution to many long-standing problems, and while current technologies may be effective, it is far from fully addressing the hug, complex, difficult and challenging tasks associated with disaster missions and risky intervention. The challenge is in finding creative, reliable and applicable technical solutions in such highly constrained and uncertain environment. In addition, it is necessary to overcome constrains on resources by developing innovative, cost effective and practical technology. Robotics can play important intelligent and technological roles that support first response equipment in harsh and dangerous environments while replacing rescue personnel from entering unreachable or unsafe places. Robotics solutions that are well adapted to local conditions of unstructured and unknown environment can greatly improve safety and security of personnel as well as work efficiency, productivity and flexibility. Solving and fulfilling the needs of such tasks presents challenges in robotic mechanical structure and mobility, sensors and sensor fusion, autonomous and semi autonomous control, planning and navigation, and machine intelligence. This paper categorizes the source of disasters and associated missions, and highlights the needs for suitable and reliable technology and technical and functional requirements of robotic systems to fulfill task objectives. In addition, it shows that robotic technologies can be used for disasters prevention or early warning, intervention and recovery efforts during disasters with all possible kinds of relevant missions while ensuring quality of service and safety of human beings. Some of these missions may include: demining, search and rescue, surveillance, reconnaissance and risk assessment, evacuation assistance, intrusion/victim detection and assessment, etc.

  18. Robot-Assisted Risky Intervention, Search, Rescue and Environmental Surveillance

    Directory of Open Access Journals (Sweden)

    Maki K. Habib

    2010-03-01

    Full Text Available Technology has become the solution to many long-standing problems, and while current technologies may be effective, it is far from fully addressing the hug, complex, difficult and challenging tasks associated with disaster missions and risky intervention. The challenge is in finding creative, reliable and applicable technical solutions in such highly constrained and uncertain environment. In addition, it is necessary to overcome constrains on resources by developing innovative, cost effective and practical technology. Robotics can play important intelligent and technological roles that support first response equipment in harsh and dangerous environments while replacing rescue personnel from entering unreachable or unsafe places. Robotics solutions that are well adapted to local conditions of unstructured and unknown environment can greatly improve safety and security of personnel as well as work efficiency, productivity and flexibility. Solving and fulfilling the needs of such tasks presents challenges in robotic mechanical structure and mobility, sensors and sensor fusion, autonomous and semi autonomous control, planning and navigation, and machine intelligence. This paper categorizes the source of disasters and associated missions, and highlights the needs for suitable and reliable technology and technical and functional requirements of robotic systems to fulfill task objectives. In addition, it shows that robotic technologies can be used for disasters prevention or early warning, intervention and recovery efforts during disasters with all possible kinds of relevant missions while ensuring quality of service and safety of human beings. Some of these missions may include: demining, search and rescue, surveillance, reconnaissance and risk assessment, evacuation assistance, intrusion/victim detection and assessment, etc.

  19. Disaster Rescue Simulation based on Complex Adaptive Theory

    Directory of Open Access Journals (Sweden)

    Feng Jiang

    2013-05-01

    Full Text Available Disaster rescue is one of the key measures of disaster reduction. The rescue process is a complex process with the characteristics of large scale, complicate structure, non-linear. It is hard to describe and analyze them with traditional methods. Based on complex adaptive theory, this paper analyzes the complex adaptation of the rescue process from seven features: aggregation, nonlinearity, mobility, diversity, tagging, internal model and building block. With the support of Repast platform, an agent-based model including rescue agents and victim agents was proposed. Moreover, two simulations with different parameters are employed to examine the feasibility of the model. As a result, the proposed model has been shown that it is efficient in dealing with the disaster rescue simulation and can provide the reference for making decisions.

  20. Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent.

    Science.gov (United States)

    Shababi, Monir; Feng, Zhihua; Villalon, Eric; Sibigtroth, Christine M; Osman, Erkan Y; Miller, Madeline R; Williams-Simon, Patricka A; Lombardi, Abby; Sass, Thalia H; Atkinson, Arleigh K; Garcia, Michael L; Ko, Chien-Ping; Lorson, Christian L

    2016-05-01

    Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an autosomal recessive disease occurring during childhood. The gene responsible for disease development is a ubiquitously expressed protein, IGHMBP2. Mutations in IGHMBP2 result in the loss of α-motor neurons leading to muscle atrophy in the distal limbs accompanied by respiratory complications. Although genetically and clinically distinct, proximal SMA is also caused by the loss of a ubiquitously expressed gene (SMN). Significant preclinical success has been achieved in proximal SMA using viral-based gene replacement strategies. We leveraged the technologies employed in SMA to demonstrate gene replacement efficacy in an SMARD1 animal model. Intracerebroventricular (ICV) injection of single-stranded AAV9 expressing the full-length cDNA of IGHMBP2 in a low dose led to a significant level of rescue in treated SMARD1 animals. Consistent with drastically increased survival, weight gain, and strength, the rescued animals demonstrated a significant improvement in muscle, NMJ, motor neurons, and axonal pathology. In addition, increased levels of IGHMBP2 in lumbar motor neurons verified the efficacy of the virus to transduce the target tissues. Our results indicate that AAV9-based gene replacement is a viable strategy for SMARD1, although dosing effects and potential negative impacts of high dose and ICV injection should be thoroughly investigated.

  1. Heterogeneous road networks have no apparent effect on the genetic structure of small mammal populations.

    Science.gov (United States)

    Grilo, Clara; Del Cerro, Irene; Centeno-Cuadros, Alejandro; Ramiro, Victor; Román, Jacinto; Molina-Vacas, Guillem; Fernández-Aguilar, Xavier; Rodríguez, Juan; Porto-Peter, Flávia; Fonseca, Carlos; Revilla, Eloy; Godoy, José A

    2016-09-15

    Roads are widely recognized to represent a barrier to individual movements and, conversely, verges can act as potential corridors for the dispersal of many small mammals. Both barrier and corridor effects should generate a clear spatial pattern in genetic structure. Nevertheless, the effect of roads on the genetic structure of small mammal populations still remains unclear. In this study, we examine the barrier effect that different road types (4-lane highway, 2-lane roads and single-lane unpaved roads) may have on the population genetic structure of three species differing in relevant life history traits: southern water vole Arvicola sapidus, the Mediterranean pine vole Microtus duodecimcostatus and the Algerian mouse Mus spretus. We also examine the corridor effect of highway verges on the Mediterranean pine vole and the Algerian mouse. We analysed the population structure through pairwise estimates of FST among subpopulations bisected by roads, identified genetic clusters through Bayesian assignment approaches, and used simple and partial Mantel tests to evaluate the relative barrier or corridor effect of roads. No strong evidences were found for an effect of roads on population structure of these three species. The barrier effect of roads seems to be site-specific and no corridor effect of verges was found for the pine vole and Algerian mouse populations. The lack of consistent results among species and for each road type lead us to believe that the ability of individual dispersers to use those crossing structures or the habitat quality in the highway verges may have a relatively higher influence on gene flow among populations than the presence of crossing structures per se. Further research should include microhabitat analysis and the estimates of species abundance to understand the mechanisms that underlie the genetic structure observed at some sites.

  2. Cause and effect analysis by fuzzy relational equations and a genetic algorithm

    Energy Technology Data Exchange (ETDEWEB)

    Rotshtein, Alexander P. [Industrial Engineering and Management Department, Jerusalem College of Technology-Machon Lev, Havaad Haleumi St., 21, 91160, Jerusalem (Israel)]. E-mail: rot@jct.ac.il; Posner, Morton [Industrial Engineering and Management Department, Jerusalem College of Technology-Machon Lev, Havaad Haleumi St., 21, 91160, Jerusalem (Israel); Rakytyanska, Hanna B. [Department of Applied Mathematics, Vinnitsa State Technical University, Khmelnitske Sh., 95, 21021, Vinnitsa (Ukraine)]. E-mail: h_rakit@hotmail.com

    2006-09-15

    This paper proposes using a genetic algorithm as a tool to solve the fault diagnosis problem. The fault diagnosis problem is based on a cause and effect analysis which is formally described by fuzzy relations. Fuzzy relations are formed on the basis of expert assessments. Application of expert fuzzy relations to restore and identify the causes through the observed effects requires the solution to a system of fuzzy relational equations. In this study this search for a solution amounts to solving a corresponding optimization problem. An optimization algorithm is based on the application of genetic operations of crossover, mutation and selection. The genetic algorithm suggested here represents an application in expert systems of fault diagnosis and quality control.

  3. Effect of genetic polymorphisms in the folate pathway on methotrexate therapy in rheumatic diseases.

    Science.gov (United States)

    Stamp, Lisa K; Roberts, Rebecca L

    2011-10-01

    Methotrexate (MTX) is the first-line treatment for rheumatoid arthritis and is frequently used in the management of other forms of inflammatory arthritis. It is currently challenging to predict which patients will achieve adequate disease control and which patients will develop adverse effects while taking MTX. As an analog of dihydrofolic acid, MTX enters cells through the reduced folate carrier-1 protein, and is polyglutamated. MTX polyglutamates inhibit key enzymes in the folate pathway to produce an anti-inflammatory effect. It has been suggested that genetic polymorphisms in the folate pathway may influence intracellular folate and MTX polyglutamates pools, and thus MTX response. However, studies to identify genetic predictors have yielded inconclusive results. Nonreplication across studies has been attributed to insufficient statistical power as well as pharmacological and clinical confounders. Prospective studies, standardizing the definitions of response and toxicity, and application of genome-wide approaches may advance the search for genetic predictors of MTX response.

  4. The Limits of Child Effects: Evidence for Genetically Mediated Child Effects on Corporal Punishment but Not on Physical Maltreatment

    Science.gov (United States)

    Jaffee, Sara R.; Caspi, Avshalom; Moffitt, Terrie E.; Polo-Tomas, Monica; Price, Thomas S.; Taylor, Alan

    2004-01-01

    Research on child effects has demonstrated that children's difficult and coercive behavior provokes harsh discipline from adults. Using a genetically sensitive design, the authors tested the limits of child effects on adult behavior that ranged from the normative (corporal punishment) to the nonnormative (physical maltreatment). The sample was a…

  5. Sustained effects of online genetics education: a randomized controlled trial on oncogenetics.

    Science.gov (United States)

    Houwink, Elisa J F; van Teeffelen, Sarah R; Muijtjens, Arno M M; Henneman, Lidewij; Jacobi, Florijn; van Luijk, Scheltus J; Dinant, Geert Jan; van der Vleuten, Cees; Cornel, Martina C

    2014-03-01

    Medical professionals are increasingly expected to deliver genetic services in daily patient care. However, genetics education is considered to be suboptimal and in urgent need of revision and innovation. We designed a Genetics e-learning Continuing Professional Development (CPD) module aimed at improving general practitioners' (GPs') knowledge about oncogenetics, and we conducted a randomized controlled trial to evaluate the outcomes at the first two levels of the Kirkpatrick framework (satisfaction, learning and behavior). Between September 2011 and March 2012, a parallel-group, pre- and post-retention (6-month follow-up) controlled group intervention trial was conducted, with repeated measurements using validated questionnaires. Eighty Dutch GP volunteers were randomly assigned to the intervention or the control group. Satisfaction with the module was high, with the three item's scores in the range 4.1-4.3 (5-point scale) and a global score of 7.9 (10-point scale). Knowledge gains post test and at retention test were 0.055 (P<0.05) and 0.079 (P<0.01), respectively, with moderate effect sizes (0.27 and 0.31, respectively). The participants appreciated applicability in daily practice of knowledge aspects (item scores 3.3-3.8, five-point scale), but scores on self-reported identification of disease, referral to a specialist and knowledge about the possibilities/limitations of genetic testing were near neutral (2.7-2.8, five-point scale). The Genetics e-learning CPD module proved to be a feasible, satisfactory and clinically applicable method to improve oncogenetics knowledge. The educational effects can inform further development of online genetics modules aimed at improving physicians' genetics knowledge and could potentially be relevant internationally and across a wider range of potential audiences.

  6. Population genetic variation in the tree fern Alsophila spinulosa (Cyatheaceae: effects of reproductive strategy.

    Directory of Open Access Journals (Sweden)

    Ting Wang

    Full Text Available BACKGROUND: Essentially all ferns can perform both sexual and asexual reproduction. Their populations represent suitable study objects to test the population genetic effects of different reproductive systems. Using the diploid homosporous fern Alsophila spinulosa as an example species, the main purpose of this study was to assess the relative impact of sexual and asexual reproduction on the level and structure of population genetic variation. METHODOLOGY/PRINCIPAL FINDINGS: Inter-simple sequence repeats analysis was conducted on 140 individuals collected from seven populations (HSG, LCH, BPC, MPG, GX, LD, and ZHG in China. Seventy-four polymorphic bands discriminated a total of 127 multilocus genotypes. Character compatibility analysis revealed that 50.0 to 70.0% of the genotypes had to be deleted in order to obtain a tree-like structure in the data set from populations HSG, LCH, MPG, BPC, GX, and LD; and there was a gradual decrease of conflict in the data set when genotypes with the highest incompatibility counts were successively deleted. In contrast, in population ZHG, only 33.3% of genotypes had to be removed to achieve complete compatibility in the data set, which showed a sharp decline in incompatibility upon the deletion of those genotypes. All populations examined possessed similar levels of genetic variation. Population ZHG was not found to be more differentiated than the other populations. CONCLUSIONS/SIGNIFICANCE: Sexual recombination is the predominant source of genetic variation in most of the examined populations of A. spinulosa. However, somatic mutation contributes most to the genetic variation in population ZHG. This change of the primary mode of reproduction does not cause a significant difference in the population genetic composition. Character compatibility analysis represents an effective approach to separate the role of sexual and asexual components in shaping the genetic pattern of fern populations.

  7. Effects of crossing distance and genetic relatedness on pollen performance in Alstroemeria aurea (Alstroemeriaceae).

    Science.gov (United States)

    Souto, Cintia P; Aizen, Marcelo A; Premoli, Andrea C

    2002-03-01

    Prezygotic barriers may represent effective mechanisms to avoid the deleterious effects of inbreeding. This study reports the existence of distance-dependent prezygotic barriers in self-compatible Alstroemeria aurea, a clonal herb native to temperate forests of the southern Andes. We analyzed pollen germination and tube growth as indicators of donor-recipient affinity using crossing distances of 1, 10, and 100 m. We used allozyme electrophoresis to determine the actual genetic relatedness between donor and recipient ramets. Pollen germination was not affected by distance between mates, but the number of pollen tubes reaching the base of the style increased strongly with distance between donor and recipient. This pattern was related to an increase in genetic dissimilarity with distance between mates. In contrast, pollen tube-style interactions did not change with distance when we restricted analysis to individuals at different distances that appeared to be genetically identical. This test implied genetic dissimilarity as the critical factor affecting pollen performance. We propose that the existence of prezygotic barriers might contribute to the high degree of genetic mixing exhibited by some clonal species.

  8. Model of the Search and Rescue operations in Republic of Serbia

    OpenAIRE

    Svetislav ŠoŁkic; Jovica Curčic; Ljubinko Karapetrovic

    2015-01-01

    The IAMSAR Manual contains practical guidelines for the organisation of maritime and aeronautical SAR, mission coordination, operations of search and rescue units (SRUs) and provision of SAR-related training. RCC (rescue coordination center) - a unit responsible for promoting efficient organization of search and rescue operations within a search and rescue region. Rescue Coordination Centre (RCC) means a designated coordination centre that acts as the national Search and Rescue Region's coord...

  9. Kernel Approach for Modeling Interaction Effects in Genetic Association Studies of Complex Quantitative Traits.

    Science.gov (United States)

    Broadaway, K Alaine; Duncan, Richard; Conneely, Karen N; Almli, Lynn M; Bradley, Bekh; Ressler, Kerry J; Epstein, Michael P

    2015-07-01

    The etiology of complex traits likely involves the effects of genetic and environmental factors, along with complicated interaction effects between them. Consequently, there has been interest in applying genetic association tests of complex traits that account for potential modification of the genetic effect in the presence of an environmental factor. One can perform such an analysis using a joint test of gene and gene-environment interaction. An optimal joint test would be one that remains powerful under a variety of models ranging from those of strong gene-environment interaction effect to those of little or no gene-environment interaction effect. To fill this demand, we have extended a kernel machine based approach for association mapping of multiple SNPs to consider joint tests of gene and gene-environment interaction. The kernel-based approach for joint testing is promising, because it incorporates linkage disequilibrium information from multiple SNPs simultaneously in analysis and permits flexible modeling of interaction effects. Using simulated data, we show that our kernel machine approach typically outperforms the traditional joint test under strong gene-environment interaction models and further outperforms the traditional main-effect association test under models of weak or no gene-environment interaction effects. We illustrate our test using genome-wide association data from the Grady Trauma Project, a cohort of highly traumatized, at-risk individuals, which has previously been investigated for interaction effects. © 2015 WILEY PERIODICALS, INC.

  10. Effects of HBV Genetic Variability on RNAi Strategies

    Directory of Open Access Journals (Sweden)

    Nattanan Panjaworayan

    2011-01-01

    Full Text Available RNAi strategies present promising antiviral strategies against HBV. RNAi strategies require base pairing between short RNAi effectors and targets in the HBV pregenome or other RNAs. Natural variation in HBV genotypes, quasispecies variation, or mutations selected by the RNAi strategy could potentially make these strategies less effective. However, current and proposed antiviral strategies against HBV are being, or could be, designed to avoid this. This would involve simultaneous targeting of multiple regions of the genome, or regions in which variation or mutation is not tolerated. RNAi strategies against single genotypes or against variable regions of the genome would need to have significant other advantages to be part of robust therapies.

  11. The Rescue and Rehabilitation of Koalas (Phascolarctos cinereus in Southeast Queensland

    Directory of Open Access Journals (Sweden)

    Emily Burton

    2016-09-01

    Full Text Available Koala populations in southeast Queensland are under threat from many factors, particularly habitat loss, dog attack, vehicle trauma and disease. Animals not killed from these impacts are often rescued and taken into care for rehabilitation, and eventual release back to the wild if deemed to be healthy. This study investigated current rescue, rehabilitation and release data for koalas admitted to the four major wildlife hospitals in southeast Queensland (Australia Zoo Wildlife Hospital (AZWH, Currumbin Wildlife Sanctuary Hospital (CWH, Moggill Koala Hospital (MKH and the Royal Society for the Prevention Against Cruelty to Animals Wildlife Hospital at Wacol (RSPCA, and suggests aspects of the practice that may be changed to improve its contribution to the preservation of the species. It concluded that: (a the main threats to koalas across southeast Queensland were related to urbanization (vehicle collisions, domestic animal attacks and the disease chlamydiosis; (b case outcomes varied amongst hospitals, including time spent in care, euthanasia and release rates; and (c the majority (66.5% of rescued koalas were either euthanized or died in care with only 27% released back to the wild. The results from this study have important implications for further research into koala rescue and rehabilitation to gain a better understanding of its effectiveness as a conservation strategy.

  12. PSO-Based Robot Path Planning for Multisurvivor Rescue in Limited Survival Time

    Directory of Open Access Journals (Sweden)

    N. Geng

    2014-01-01

    Full Text Available Since the strength of a trapped person often declines with time in urgent and dangerous circumstances, adopting a robot to rescue as many survivors as possible in limited time is of considerable significance. However, as one key issue in robot navigation, how to plan an optimal rescue path of a robot has not yet been fully solved. This paper studies robot path planning for multisurvivor rescue in limited survival time using a representative heuristic, particle swarm optimization (PSO. First, the robot path planning problem including multiple survivors is formulated as a discrete optimization one with high constraint, where the number of rescued persons is taken as the unique objective function, and the strength of a trapped person is used to constrain the feasibility of a path. Then, a new integer PSO algorithm is presented to solve the mathematical model, and several new operations, such as the update of a particle, the insertion and inversion operators, and the rapidly local search method, are incorporated into the proposed algorithm to improve its effectiveness. Finally, the simulation results demonstrate the capacity of our method in generating optimal paths with high quality.

  13. The Rescue and Rehabilitation of Koalas (Phascolarctos cinereus) in Southeast Queensland.

    Science.gov (United States)

    Burton, Emily; Tribe, Andrew

    2016-09-15

    Koala populations in southeast Queensland are under threat from many factors, particularly habitat loss, dog attack, vehicle trauma and disease. Animals not killed from these impacts are often rescued and taken into care for rehabilitation, and eventual release back to the wild if deemed to be healthy. This study investigated current rescue, rehabilitation and release data for koalas admitted to the four major wildlife hospitals in southeast Queensland (Australia Zoo Wildlife Hospital (AZWH), Currumbin Wildlife Sanctuary Hospital (CWH), Moggill Koala Hospital (MKH) and the Royal Society for the Prevention Against Cruelty to Animals Wildlife Hospital at Wacol (RSPCA)), and suggests aspects of the practice that may be changed to improve its contribution to the preservation of the species. It concluded that: (a) the main threats to koalas across southeast Queensland were related to urbanization (vehicle collisions, domestic animal attacks and the disease chlamydiosis); (b) case outcomes varied amongst hospitals, including time spent in care, euthanasia and release rates; and (c) the majority (66.5%) of rescued koalas were either euthanized or died in care with only 27% released back to the wild. The results from this study have important implications for further research into koala rescue and rehabilitation to gain a better understanding of its effectiveness as a conservation strategy.

  14. Rescue Arterial Revascularization Using Cryopreserved Iliac Artery Allograft in Liver Transplant Patients.

    Science.gov (United States)

    Mohkam, Kayvan; Darnis, Benjamin; Rode, Agnès; Hetsch, Nathalie; Balbo, Gregorio; Bourgeot, Jean-Paul; Mezoughi, Salim; Demian, Hassan; Ducerf, Christian; Mabrut, Jean-Yves

    2017-08-01

    Management of hepatic arterial complications after liver transplant remains challenging. The aim of our study was to assess the efficacy of rescue arterial revascularization using cryopreserved iliac artery allografts in this setting. Medical records of patients with liver transplants who underwent rescue arterial revascularization using cryopreserved iliac artery allografts at a single institution were reviewed. From 1992 to 2015, 7 patients underwent rescue arterial revascularization using cryopreserved iliac artery allografts for hepatic artery pseudoaneurysm (3 patients), thrombosis (2 patients), aneurysm (1 patient), or stenosis (1 patient). Two patients developed severe complications, comprising one biliary leakage treated percutaneously, and one acute necrotizing pancreatitis causing death on postoperative day 29. After a median follow-up of 75 months (range, 1-269 mo), 2 patients had an uneventful long-term course, whereas 4 patients developed graft thrombosis after a median period of 120 days (range, 2-488 d). Among the 4 patients who developed graft thrombosis, 1 patient developed ischemic cholangitis, 1 developed acute ischemic hepatic necrosis and was retransplanted, and 2 patients did not develop any further complications. Despite a high rate of allograft thrombosis, rescue arterial revascularization using cryopreserved iliac artery allografts after liver transplant is an effective and readily available approach, with a limited risk of infection and satisfactory long-term graft and patient survival.

  15. Genetic effects on carcass quantity, quality, and palatability traits in straightbred and crossbred Romosinuano steers

    Science.gov (United States)

    The objectives of this work were to estimate heterosis and breed genetic effects for carcass quantity, quality, and palatability traits of steers (Bos spp.) produced from matings of Romosinuano, Brahman, and Angus cattle. Steers (n = 464) were weaned at 7 mo of age and transported to the Southern G...

  16. Genetic and Environmental Effects on Stuttering: A Twin Study from Finland

    Science.gov (United States)

    Rautakoski, Pirkko; Hannus, Therese; Simberg, Susanna; Sandnabba, N. Kenneth; Santtila, Pekka

    2012-01-01

    The present study explored the prevalence of self-reported stuttering in a Finnish twin population and examined the extent to which the variance in liability to stuttering was attributable to genetic and environmental effects. We analyzed data of 1728 Finnish twins, born between 1961 and 1989. The participants were asked to complete a…

  17. Heritable and non-heritable genetic effects on retained placenta in Meuse-Rhine-Yssel cattle

    NARCIS (Netherlands)

    Benedictus, L.; Koets, A.P.; Kuijpers, F.H.J.; Joosten, I.; Eldik, van P.; Heuven, H.C.M.

    2013-01-01

    Failure of the timely expulsion of the fetal membranes, called retained placenta, leads to reduced fertility, increased veterinary costs and reduced milk yields. The objectives of this study were to concurrently look at the heritable and non-heritable genetic effects on retained placenta and test th

  18. Effect of specialization on genetic parameters of studbook-entry inspection in Dutch Warmblood horses

    NARCIS (Netherlands)

    Rovere, G.A.; Madsen, P.; Norberg, E.; Arendonk, van J.A.M.; Ducro, B.J.

    2015-01-01

    Recent studies on data from the Dutch Warmblood Studbook (KWPN) have shown that the ongoing specialization of horses for either dressage (DH) or show jumping (JH) has led to a decreasing genetic relationship between the two subpopulations. The aim of this study was to analyse the effect of the speci

  19. Enhanced computational methods for quantifying the effect of geographic and environmental isolation on genetic differentiation

    NARCIS (Netherlands)

    Botta, Filippo; Eriksen, Casper; Fontaine, Michael Christophe; Guillot, Gilles

    2015-01-01

    In a recent paper, Bradburd et al. (2013) proposed a model to quantify the relative effect ofgeographic and environmental distance on genetic differentiation. Here, we enhance this method in several ways. 1. We modify the covariance model so as to fit better with mainstream geostatistical models and

  20. When do myopia genes have their effect? Comparison of genetic risks between children and adults

    NARCIS (Netherlands)

    Tideman, J.W.; Fan, Q.; Polling, J.R.; Guo, X.; Yazar, S.; Khawaja, A.; Hohn, R.; Lu, Y.; Jaddoe, V.W.; Yamashiro, K.; Yoshikawa, M.; Gerhold-Ay, A.; Nickels, S.; Zeller, T.; He, M.; Boutin, T.; Bencic, G.; Vitart, V.; Mackey, D.A.; Foster, P.J.; MacGregor, S.; Williams, C.; Saw, S.M.; Guggenheim, J.A.; Klaver, C.C.W.

    2016-01-01

    Previous studies have identified many genetic loci for refractive error and myopia. We aimed to investigate the effect of these loci on ocular biometry as a function of age in children, adolescents, and adults. The study population consisted of three age groups identified from the international CREA

  1. Mutualism effectiveness and vertical transmission of symbiotic fungal endophytes in response to host genetic background.

    Science.gov (United States)

    Gundel, Pedro E; Martínez-Ghersa, María A; Omacini, Marina; Cuyeu, Romina; Pagano, Elba; Ríos, Raúl; Ghersa, Claudio M

    2012-12-01

    Certain species of the Pooideae subfamily develop stress tolerance and herbivory resistance through symbiosis with vertically transmitted, asexual fungi. This symbiosis is specific, and genetic factors modulate the compatibility between partners. Although gene flow is clearly a fitness trait in allogamous grasses, because it injects hybrid vigor and raw material for evolution, it could reduce compatibility and thus mutualism effectiveness. To explore the importance of host genetic background in modulating the performance of symbiosis, Lolium multiflorum plants, infected and noninfected with Neotyphodium occultans, were crossed with genetically distant plants of isolines (susceptible and resistant to diclofop-methyl herbicide) bred from two cultivars and exposed to stress. The endophyte improved seedling survival in genotypes susceptible to herbicide, while it had a negative effect on one of the genetically resistant crosses. Mutualism provided resistance to herbivory independently of the host genotype, but this effect vanished under stress. While no endophyte effect was observed on host reproductive success, it was increased by interpopulation plant crosses. Neither gene flow nor herbicide had an important impact on endophyte transmission. Host fitness improvements attributable to gene flow do not appear to result in direct conflict with mutualism while this seems to be an important mechanism for the ecological and contemporary evolution of the symbiotum.

  2. Genetic engineering of plant volatile terpenoids: effects on a herbivore, a predator and a parasitoid

    NARCIS (Netherlands)

    Kos, M.; Houshyani, B.; Overeem, A.J.; Bouwmeester, H.J.; Weldegergis, B.T.; van Loon, J.J.A.; Dicke, M.; Vet, L.E.M.

    2013-01-01

    BACKGROUND: Most insect-resistant transgenic crops employ toxins to control pests. A novel approach is to enhance the effectiveness of natural enemies by genetic engineering of the biosynthesis of volatile organic compounds (VOCs). Before the commercialisation of such transgenic plants can be pursue

  3. Genomic sharing surrounding alleles identical by descent : Effects of genetic drift and population growth

    NARCIS (Netherlands)

    te Meerman, G J; Van der Meulen, M A

    1997-01-01

    The number of identical deleterious mutations present in a population may become very large, depending on the combined effect of genetic drift, population growth and limited negative selection. The distribution of the length of the shared area between two random chromosomes carrying the mutations ha

  4. Vitamin D: direct effects of vitamin D metabolites on bone: lessons from genetically modified mice

    NARCIS (Netherlands)

    Eisman, J.A.; Bouillon, R.

    2014-01-01

    The vitamin D endocrine system has clear beneficial effects on bone as demonstrated by prevention of rickets in children and by reducing the risk of osteomalacia or osteoporosis in adults or elderly subjects. Depending on the design of the study of genetically modified animals, however, 1,25(OH)2D a

  5. Analysis of genetic and environmental effects on hybrid poplar rooting in Central and Northern Minnesota, USA

    Science.gov (United States)

    Ronald S., Jr. Zalesny; Don Riemenschneider; Edmund Bauer

    2000-01-01

    We studied genetic and environmental effects on adventitious root initiation and growth because rooting is biologically prerequisite to the establishment of hybrid poplar plantations. Six clones from two pedigrees (pure Populus deltoides "cottonwoods" and P. deltoides x P. maximowiczii hybrids) were...

  6. Genetic and Environmental Effects on Stuttering: A Twin Study from Finland

    Science.gov (United States)

    Rautakoski, Pirkko; Hannus, Therese; Simberg, Susanna; Sandnabba, N. Kenneth; Santtila, Pekka

    2012-01-01

    The present study explored the prevalence of self-reported stuttering in a Finnish twin population and examined the extent to which the variance in liability to stuttering was attributable to genetic and environmental effects. We analyzed data of 1728 Finnish twins, born between 1961 and 1989. The participants were asked to complete a…

  7. Evaluation of the genetic effects of the in vitro antimicrobial activities ...

    African Journals Online (AJOL)

    Evaluation of the genetic effects of the in vitro antimicrobial activities of Rhazya stricta leaf extract using molecular techniques and scanning electron microscope. ... bacteria (Staphylococcus aureus) with the aqueous leaves extract of R. stricta ... of polymorphic DNA (RAPD) analysis of the genomic DNA extracted from the ...

  8. Vitamin D: direct effects of vitamin D metabolites on bone: lessons from genetically modified mice

    NARCIS (Netherlands)

    Eisman, J.A.; Bouillon, R.

    2014-01-01

    The vitamin D endocrine system has clear beneficial effects on bone as demonstrated by prevention of rickets in children and by reducing the risk of osteomalacia or osteoporosis in adults or elderly subjects. Depending on the design of the study of genetically modified animals, however, 1,25(OH)2D a

  9. Effects of inbreeding and genetic modification on Aedes aegypti larval competition and adult energy reserves

    NARCIS (Netherlands)

    Koenraadt, C.J.M.; Kormaksson, M.; Harrington, L.C.

    2010-01-01

    Background - Genetic modification of mosquitoes offers a promising strategy for the prevention and control of mosquito-borne diseases. For such a strategy to be effective, it is critically important that engineered strains are competitive enough to serve their intended function in population

  10. Genomic sharing surrounding alleles identical by descent : Effects of genetic drift and population growth

    NARCIS (Netherlands)

    te Meerman, G J; Meulen ,van der Martin

    1997-01-01

    The number of identical deleterious mutations present in a population may become very large, depending on the combined effect of genetic drift, population growth and limited negative selection. The distribution of the length of the shared area between two random chromosomes carrying the mutations ha

  11. Fonio (Digitaria exilis) landraces in Mali: Nutrient and phytate content, genetic diversity and effect of processing

    NARCIS (Netherlands)

    Koreissi, Y.; Fanou-Fogny, N.M.L.; Hulshof, P.J.M.; Brouwer, I.D.

    2013-01-01

    The study aimed to assess i) the genetic diversity of fonio (Digitaria exilis) landraces in Mali, ii) the nutrient and phytate content in fonio products and iii) the effect of processing on nutrient content of fonio products. Twelve fonio landraces were collected from farmers in central and southern

  12. Effects of inbreeding and genetic modification on Aedes aegypti larval competition and adult energy reserves

    NARCIS (Netherlands)

    Koenraadt, C.J.M.; Kormaksson, M.; Harrington, L.C.

    2010-01-01

    Background - Genetic modification of mosquitoes offers a promising strategy for the prevention and control of mosquito-borne diseases. For such a strategy to be effective, it is critically important that engineered strains are competitive enough to serve their intended function in population replace

  13. A general review of competition genetic effects with an emphasis on swine breeding.

    Science.gov (United States)

    Chen, C Y; Johnson, R K; Newman, S; Van Vleck, L D

    2007-09-30

    A review of previous studies is presented on estimates of genetic parameters and responses to selection with traditional breeding approaches, on correlations between agonistic behavior and growth performance, and on theoretical frameworks for selection incorporating interactions among individuals and on practical methods for incorporating competition effects in breeding programs.

  14. Effects of genetically modified plants on microbial communities and processes in soil

    NARCIS (Netherlands)

    Bruinsma, M.; Kowalchuk, G.A.; Van Veen, J.A.

    2003-01-01

    The development and use of genetically modified plants (GMPs) has been a topic of considerable public debate in recent years. GMPs hold great promise for improving agricultural output, but the potential for unwanted effects of GMP use is still not fully understood. The majority of studies addressing

  15. Assessment of the effects of genetically modified potatoes on structure and functioning of soil fungal communities

    NARCIS (Netherlands)

    Hannula, Emilia

    2012-01-01

    This thesis investigates the effects of genetic modification of the starch quality in potato on the structure and function of the soil fungal community via changes in root-exudates and litter composition, and compares the observed differences between the GM- and its parental variety in the context o

  16. Effects of common germ-line genetic variation in cell cycle genes on ovarian cancer survival

    DEFF Research Database (Denmark)

    Song, H.; Hogdall, E.; Ramus, S.J.

    2008-01-01

    PURPOSE: Somatic alterations have been shown to correlate with ovarian cancer prognosis and survival, but less is known about the effects on survival of common inherited genetic variation. Of particular interest are genes involved in cell cycle pathways, which regulate cell division and could pla...

  17. Founder effects and genetic population structure of brown trout (Salmo trutta) in a Danish river system

    DEFF Research Database (Denmark)

    Hansen, Michael Møller; Mensberg, Karen-Lise Dons

    1996-01-01

    The influence of founder effects on the genetic population structure of brown trout (Salmo trutta) was studied in a small Danish river system. Samples of trout from seven locations were analysed by allozyme electrophoresis and mitochondrial DNA restriction fragment length polymorphism analysis...

  18. RNA polymerase I-driven reverse genetics system for enterovirus 71 and its implications for vaccine production

    Directory of Open Access Journals (Sweden)

    Meng Tao

    2012-10-01

    Full Text Available Abstract Background Enterovirus 71 (EV71 is a virus that causes from mild hand, foot and mouth disease (HFMD to severe neurological complications and deaths in infants and young children. Effective antiviral agents and vaccines against EV71 are not available. However, Vero cell-based chemically inactivated EV71 vaccines could be developed soon based on the success of inactivated polio vaccine. Like poliovirus, EV71 has a positive single-stranded RNA genome of about 7400 nucleotides which contains a single open reading frame (ORF flanked by conserved and untranslated regions at both the 5′ and 3′ ends. Results The universal amplification of the full length genome of EV71 regardless of its genetic diversity, and the subsequent construction of a human RNA polymerase I-driven reverse genetics (RG system to produce pure virus stocks in Vero cell within 10 days were described. The rescued viruses were characterized by DNA sequencing, cytopathic effect (CPE and indirect fluorescent assay (IFA in comparison with the wild-type viruses. Moreover, the rescued viruses grew to high titers and retained the same immunogenicity as the wild-type viruses. Conclusion We have established a simplified method to rescue RG EV71 virus from diverse clinical isolates with detailed genetic information and to prepare virus stocks in only 10 days. This method could accelerate EV71 vaccine development.

  19. Analyzing age-specific genetic effects on human extreme age survival in cohort-based longitudinal studies

    DEFF Research Database (Denmark)

    Tan, Qihua; Jacobsen, Rune; Sørensen, Mette

    2013-01-01

    The analysis of age-specific genetic effects on human survival over extreme ages is confronted with a deceleration pattern in mortality that deviates from traditional survival models and sparse genetic data available. As human late life is a distinct phase of life history, exploring the genetic...... effects on extreme age survival can be of special interest to evolutionary biology and health science. We introduce a non-parametric survival analysis approach that combines population survival information with individual genotype data in assessing the genetic effects in cohort-based longitudinal studies...

  20. Fast and cost-effective genetic mapping in apple using next-generation sequencing.

    Science.gov (United States)

    Gardner, Kyle M; Brown, Patrick; Cooke, Thomas F; Cann, Scott; Costa, Fabrizio; Bustamante, Carlos; Velasco, Riccardo; Troggio, Michela; Myles, Sean

    2014-07-16

    Next-generation DNA sequencing (NGS) produces vast amounts of DNA sequence data, but it is not specifically designed to generate data suitable for genetic mapping. Recently developed DNA library preparation methods for NGS have helped solve this problem, however, by combining the use of reduced representation libraries with DNA sample barcoding to generate genome-wide genotype data from a common set of genetic markers across a large number of samples. Here we use such a method, called genotyping-by-sequencing (GBS), to produce a data set for genetic mapping in an F1 population of apples (Malus × domestica) segregating for skin color. We show that GBS produces a relatively large, but extremely sparse, genotype matrix: over 270,000 SNPs were discovered but most SNPs have too much missing data across samples to be useful for genetic mapping. After filtering for genotype quality and missing data, only 6% of the 85 million DNA sequence reads contributed to useful genotype calls. Despite this limitation, using existing software and a set of simple heuristics, we generated a final genotype matrix containing 3967 SNPs from 89 DNA samples from a single lane of Illumina HiSeq and used it to create a saturated genetic linkage map and to identify a known QTL underlying apple skin color. We therefore demonstrate that GBS is a cost-effective method for generating genome-wide SNP data suitable for genetic mapping in a highly diverse and heterozygous agricultural species. We anticipate future improvements to the GBS analysis pipeline presented here that will enhance the utility of next-generation DNA sequence data for the purposes of genetic mapping across diverse species.

  1. [Analysis of genetic models and gene effects on main agronomy characters in rapeseed].

    Science.gov (United States)

    Li, J; Qiu, J; Tang, Z; Shen, L

    1992-01-01

    According to four different genetic models, the genetic patterns of 8 agronomy traits were analysed by using the data of 24 generations which included positive and negative cross of 81008 x Tower, both of the varieties are of good quality. The results showed that none of 8 characters could fit in with additive-dominance models. Epistasis was found in all of these characters, and it has significant effect on generation means. Seed weight/plant and some other main yield characters are controlled by duplicate interaction genes. The interaction between triple genes or multiple genes needs to be utilized in yield heterosis.

  2. Detrimental effect of selection for milk yield on genetic tolerance to heat stress in purebred Zebu cattle: Genetic parameters and trends.

    Science.gov (United States)

    Santana, M L; Pereira, R J; Bignardi, A B; Filho, A E Vercesi; Menéndez-Buxadera, A; El Faro, L

    2015-12-01

    In an attempt to determine the possible detrimental effects of continuous selection for milk yield on the genetic tolerance of Zebu cattle to heat stress, genetic parameters and trends of the response to heat stress for 86,950 test-day (TD) milk yield records from 14,670 first lactations of purebred dairy Gir cows were estimated. A random regression model with regression on days in milk (DIM) and temperature-humidity index (THI) values was applied to the data. The most detrimental effect of THI on milk yield was observed in the stage of lactation with higher milk production, DIM 61 to 120 (-0.099kg/d per THI). Although modest variations were observed for the THI scale, a reduction in additive genetic variance as well as in permanent environmental and residual variance was observed with increasing THI values. The heritability estimates showed a slight increase with increasing THI values for any DIM. The correlations between additive genetic effects across the THI scale showed that, for most of the THI values, genotype by environment interactions due to heat stress were less important for the ranking of bulls. However, for extreme THI values, this type of genotype by environment interaction may lead to an important error in selection. As a result of the selection for milk yield practiced in the dairy Gir population for 3 decades, the genetic trend of cumulative milk yield was significantly positive for production in both high (51.81kg/yr) and low THI values (78.48kg/yr). However, the difference between the breeding values of animals at high and low THI may be considered alarming (355kg in 2011). The genetic trends observed for the regression coefficients related to general production level (intercept of the reaction norm) and specific ability to respond to heat stress (slope of the reaction norm) indicate that the dairy Gir population is heading toward a higher production level at the expense of lower tolerance to heat stress. These trends reflect the genetic

  3. Clinical Evaluation of Renal Protective Effects in the Rescue Party for Chronic Renal Kidney Failure of Three%救肾方对慢性肾功能衰竭3期的肾保护作用的临床评价研究

    Institute of Scientific and Technical Information of China (English)

    张国胜; 侯小静; 朱广领

    2015-01-01

    目的:探讨肾功能衰竭3期采用救肾方治疗对肾保护作用的评价。方法本次选取50例慢性肾功能衰竭3期患者,均为我院2013年1月~2014年1月收治,采用救肾方治疗,回顾对肾保护作用的影响。结果本次研究选取的慢性肾功能衰竭3期的患者,显效7例,占14%;有效31例,占62%;无效12例,占24%,总有效率经统计为76%。相较治疗前,治疗后SCr指标、Ccr指标均改善,差异有统计学意义(P<0.05)。无不良事件发生。结论临床针对慢性肾功能衰竭3期患者,采用救肾方治疗,可提高临床效果,改善肾功能指标,对保障预后,加强肾保护有非常重要的作用。%Objective Explore the use of renal failure three rescue treatment of renal protective effect on renal evaluation.Methods The selected 50 cases of chronic renal failure in three patients in our hospital from May 2013 to May 2014 were treated using rescue kidney treatment reviewed on renal protective effect.ResultsThis study selected three chronic renal failure patients,effective in 7 cases,accounting for 14%,effective 31 cases,accounting for 62%,12 cases,accounting for 24%,the total efficiency of 76% by the statistics. Compared before and after treatment SCr indicators,Ccr indicators were significantly improved,and the difference was statisticaly significant(P< 0.05). No significant adverse events.Conclusion Clinical for chronic renal failure three patients,the use of rescue kidney treatment,can significantly improve the clinical results in improving renal function,the protection of the prognosis,strengthen kidney protection has a very important role.

  4. Integrating data rescue into the classroom

    Science.gov (United States)

    Ryan, Ciara; Ciaran, Broderick; Mary, Curley; Conor, Daly; Catriona, Duffy; Thorne, Peter; Treanor, Mairead; Walsh, Seamus; Murphy, Conor

    2017-04-01

    The availability of long-term observational data at fine time scales (e.g. daily or sub-daily) is paramount to examining changes in the magnitude, duration, intensity, and frequency of extreme events and to assess whether or not the likelihood of recent events has changed throughout the historical record. The capacity to extend current observational data holdings is, however, largely dependent on the resources available to carry out the digitisation and transcription process. This paper presents an ambitious research led teaching experiment in which undergraduate students engaged in a substantial data rescue effort to transcribe over 1 million daily rainfall values and associated metadata across Ireland for the period 1860-1939. The aim of the project was first, to motivate students by engaging them in a practical exercise whereby their contribution has considerable value to research, second, to expose students to the basic processes involved in climate data rescue, and third, to examine the potential for students to produce accurate and reliable observational data. Students were provided with digital images of annual rainfall sheets recovered from the national archives together with templates used by Met Éireann in transcribing the data. Using video and text supports, together with an online discussion forum for additional support, students double keyed more than 1400 station years of rainfall data. The assessment process was linked to creating a correct data series whereby differences in double keyed sheets were identified and a master (correct) series created by teaching staff. Three hundred station years of data previously transcribed by Met Éireann was used as a benchmark against which students showed that they were as accurate as the professionals in the process. The success of the students makes a major contribution to understanding the historic climate variability of Ireland, a sentinel location on the western margins of Europe. Given the large volumes of

  5. Moderation of breastfeeding effects on the IQ by genetic variation in fatty acid metabolism.

    Science.gov (United States)

    Caspi, Avshalom; Williams, Benjamin; Kim-Cohen, Julia; Craig, Ian W; Milne, Barry J; Poulton, Richie; Schalkwyk, Leonard C; Taylor, Alan; Werts, Helen; Moffitt, Terrie E

    2007-11-20

    Children's intellectual development is influenced by both genetic inheritance and environmental experiences. Breastfeeding is one of the earliest such postnatal experiences. Breastfed children attain higher IQ scores than children not fed breast milk, presumably because of the fatty acids uniquely available in breast milk. Here we show that the association between breastfeeding and IQ is moderated by a genetic variant in FADS2, a gene involved in the genetic control of fatty acid pathways. We confirmed this gene-environment interaction in two birth cohorts, and we ruled out alternative explanations of the finding involving gene-exposure correlation, intrauterine growth, social class, and maternal cognitive ability, as well as maternal genotype effects on breastfeeding and breast milk. The finding shows that environmental exposures can be used to uncover novel candidate genes in complex phenotypes. It also shows that genes may work via the environment to shape the IQ, helping to close the nature versus nurture debate.

  6. Education reduces the effects of genetic susceptibilities to poor physical health

    DEFF Research Database (Denmark)

    Johnson, Wendy; Kyvik, Kirsten Ohm; Mortensen, Erik L

    2010-01-01

    BACKGROUND: Greater education is associated with better physical health. This has been of great concern to public health officials. Most demonstrations show that education influences mean levels of health. Little is known about the influence of education on variance in health status, or about how...... this influence may impact the underlying genetic and environmental sources of health problems. This study explored these influences. METHODS: In a 2002 postal questionnaire, 21 522 members of same-sex pairs in the Danish Twin Registry born between 1931 and 1982 reported physical health in the 12-item Short Form...... Health Survey. We used quantitative genetic models to examine how genetic and environmental variance in physical health differed with level of education, adjusting for birth-year effects. RESULTS: and Conclusions As expected, greater education was associated with better physical health. Greater education...

  7. Physical capacity of rescue personnel in the mining industry

    Directory of Open Access Journals (Sweden)

    Hunt Andrew P

    2008-10-01

    Full Text Available Abstract Background The mining industry has one of the highest occupational rates of serious injury and fatality. Mine staff involved with rescue operations are often required to respond to physically challenging situations. This paper describes the physical attributes of mining rescue personnel. Methods 91 rescue personnel (34 ± 8.6 yrs, 1.79 ± 0.07 m, 90 ± 15.0 kg participating in the Queensland Mines Rescue Challenge completed a series of health-related and rescue-related fitness tasks. Health-related tasks comprised measurements of aerobic capacity (VO2max, abdominal endurance, abdominal strength, flexibility, lower back strength, leg strength, elbow flexion strength, shoulder strength, lower back endurance, and leg endurance. Rescue-related tasks comprised an incremental carry (IC, coal shovel (CS, and a hose drag (HD, completed in this order. Results Cardiovascular (VO2max and muscular endurance was average or below average compared with the general population. Isometric strength did not decline with age. The rescue-related tasks were all extremely demanding with heart rate responses averaging greater than 88% of age predicted maximal heart rates. Heart rate recovery responses were more discriminating than heart rates recorded during the tasks, indicating the hose drag as the most physically demanding of the tasks. Conclusion Relying on actual rescues or mining related work to provide adequate training is generally insufficient to maintain, let alone increase, physical fitness. It is therefore recommended that standards of required physical fitness be developed and mines rescue personnel undergo regularly training (and assessment in order to maintain these standards.

  8. Phenotypic and Genetic Effects of Contrasting Ethanol Environments on Physiological and Developmental Traits in Drosophila melanogaster

    Science.gov (United States)

    Castañeda, Luis E.; Nespolo, Roberto F.

    2013-01-01

    A central problem in evolutionary physiology is to understand the relationship between energy metabolism and fitness-related traits. Most attempts to do so have been based on phenotypic correlations that are not informative for the evolutionary potential of natural populations. Here, we explored the effect of contrasting ethanol environments on physiological and developmental traits, their genetic (co)variances and genetic architecture in Drosophila melanogaster. Phenotypic and genetic parameters were estimated in two populations (San Fernando and Valdivia, Chile), using a half-sib family design where broods were split into ethanol-free and ethanol-supplemented conditions. Our findings show that metabolic rate, body mass and development times were sensitive (i.e., phenotypic plasticity) to ethanol conditions and dependent on population origin. Significant heritabilities were found for all traits, while significant genetic correlations were only found between larval and total development time and between development time and metabolic rate for flies of the San Fernando population developed in ethanol-free conditions. Posterior analyses indicated that the G matrices differed between ethanol conditions for the San Fernando population (mainly explained by differences in genetic (co)variances of developmental traits), whereas the Valdivia population exhibited similar G matrices between ethanol conditions. Our findings suggest that ethanol-free environment increases the energy available to reduce development time. Therefore, our results indicate that environmental ethanol could modify the process of energy allocation, which could have consequences on the evolutionary response of natural populations of D. melanogaster. PMID:23505567

  9. Sustained effects of online genetics education: a randomized controlled trial on oncogenetics

    Science.gov (United States)

    Houwink, Elisa JF; van Teeffelen, Sarah R; Muijtjens, Arno MM; Henneman, Lidewij; Jacobi, Florijn; van Luijk, Scheltus J; Jan Dinant, Geert; van der Vleuten, Cees; Cornel, Martina C

    2014-01-01

    Medical professionals are increasingly expected to deliver genetic services in daily patient care. However, genetics education is considered to be suboptimal and in urgent need of revision and innovation. We designed a Genetics e-learning Continuing Professional Development (CPD) module aimed at improving general practitioners' (GPs') knowledge about oncogenetics, and we conducted a randomized controlled trial to evaluate the outcomes at the first two levels of the Kirkpatrick framework (satisfaction, learning and behavior). Between September 2011 and March 2012, a parallel-group, pre- and post-retention (6-month follow-up) controlled group intervention trial was conducted, with repeated measurements using validated questionnaires. Eighty Dutch GP volunteers were randomly assigned to the intervention or the control group. Satisfaction with the module was high, with the three item's scores in the range 4.1–4.3 (5-point scale) and a global score of 7.9 (10-point scale). Knowledge gains post test and at retention test were 0.055 (Pmethod to improve oncogenetics knowledge. The educational effects can inform further development of online genetics modules aimed at improving physicians' genetics knowledge and could potentially be relevant internationally and across a wider range of potential audiences. PMID:23942200

  10. Differential effect of caffeine intake in subjects with genetic susceptibility to Parkinson's Disease.

    Science.gov (United States)

    Kumar, Prakash M; Paing, Swe Swe Thet; Li, HuiHua; Pavanni, R; Yuen, Y; Zhao, Y; Tan, Eng King

    2015-11-02

    We examined if caffeine intake has a differential effect in subjects with high and low genetic susceptibility to Parkinson's disease (PD), a common neurodegenerative disorder. A case control study involving 812 subjects consisting of PD and healthy controls were conducted. Caffeine intake assessed by a validated questionnaire and genotyping of PD gene risk variant (LRRK2 R1628P) was carried out. Compared to caffeine takers with the wild-type genotype (low genetic susceptibility), non-caffeine takers with R1628P variant (high genetic susceptibility) had a 15 times increased risk of developing PD (OR = 15.4, 95% CI = (1.94, 122), P = 0.01), whereas caffeine takers with R1628P (intermediate susceptibility) had a 3 times risk (OR = 3.07, 95% CI = (2.02, 4.66), P Caffeine intake would significantly reduce the risk of PD much more in those with high genetic susceptibility compared to those with low genetic susceptibility.

  11. Phenotypic and genetic effects of contrasting ethanol environments on physiological and developmental traits in Drosophila melanogaster.

    Directory of Open Access Journals (Sweden)

    Luis E Castañeda

    Full Text Available A central problem in evolutionary physiology is to understand the relationship between energy metabolism and fitness-related traits. Most attempts to do so have been based on phenotypic correlations that are not informative for the evolutionary potential of natural populations. Here, we explored the effect of contrasting ethanol environments on physiological and developmental traits, their genetic (covariances and genetic architecture in Drosophila melanogaster. Phenotypic and genetic parameters were estimated in two populations (San Fernando and Valdivia, Chile, using a half-sib family design where broods were split into ethanol-free and ethanol-supplemented conditions. Our findings show that metabolic rate, body mass and development times were sensitive (i.e., phenotypic plasticity to ethanol conditions and dependent on population origin. Significant heritabilities were found for all traits, while significant genetic correlations were only found between larval and total development time and between development time and metabolic rate for flies of the San Fernando population developed in ethanol-free conditions. Posterior analyses indicated that the G matrices differed between ethanol conditions for the San Fernando population (mainly explained by differences in genetic (covariances of developmental traits, whereas the Valdivia population exhibited similar G matrices between ethanol conditions. Our findings suggest that ethanol-free environment increases the energy available to reduce development time. Therefore, our results indicate that environmental ethanol could modify the process of energy allocation, which could have consequences on the evolutionary response of natural populations of D. melanogaster.

  12. Arenavirus reverse genetics for vaccine development.

    Science.gov (United States)

    Ortiz-Riaño, Emilio; Cheng, Benson Yee Hin; Carlos de la Torre, Juan; Martínez-Sobrido, Luis

    2013-06-01

    Arenaviruses are important human pathogens with no Food and Drug Administration (FDA)-licensed vaccines available and current antiviral therapy being limited to an off-label use of the nucleoside analogue ribavirin of limited prophylactic efficacy. The development of reverse genetics systems represented a major breakthrough in arenavirus research. However, rescue of recombinant arenaviruses using current reverse genetics systems has been restricted to rodent cells. In this study, we describe the rescue of recombinant arenaviruses from human 293T cells and Vero cells, an FDA-approved line for vaccine development. We also describe the generation of novel vectors that mediate synthesis of both negative-sense genome RNA and positive-sense mRNA species of lymphocytic choriomeningitis virus (LCMV) directed by the human RNA polymerases I and II, respectively, within the same plasmid. This approach reduces by half the number of vectors required for arenavirus rescue, which could facilitate virus rescue in cell lines approved for human vaccine production but that cannot be transfected at high efficiencies. We have shown the feasibility of this approach by rescuing both the Old World prototypic arenavirus LCMV and the live-attenuated vaccine Candid#1 strain of the New World arenavirus Junín. Moreover, we show the feasibility of using these novel strategies for efficient rescue of recombinant tri-segmented both LCMV and Candid#1.

  13. Brassica, biotransformation and cancer risk: genetic polymorphisms alter the preventive effects of cruciferous vegetables.

    Science.gov (United States)

    Lampe, Johanna W; Peterson, Sabrina

    2002-10-01

    The chemoprotective effect of cruciferous vegetables is due to their high glucosinolate content and the capacity of glucosinolate metabolites, such as isothiocyanates (ITC) and indoles, to modulate biotransformation enzyme systems (e.g., cytochromes P450 and conjugating enzymes). Data from molecular epidemiologic studies suggest that genetic and associated functional variations in biotransformation enzymes, particularly glutathione S-transferase (GST)M1 and GSTT1, which metabolize ITC, alter cancer risk in response to cruciferous vegetable exposure. Moreover, genetic polymorphisms in receptors and transcription factors that interact with these compounds may further contribute to variation in response to cruciferous vegetable intake. This review outlines the metabolism and mechanisms of action of cruciferous vegetable constituents, discusses the recent human studies testing effects of cruciferous vegetables on biotransformation systems and summarizes the epidemiologic and experimental evidence for an effect of genetic polymorphisms in these enzymes on response to cruciferous vegetable intake. Taken together, genetic differences in biotransformation enzymes and the factors that regulate them, as well as variation in glucosinolate content of cruciferous vegetables and the methods used to prepare these foods underscore the multiple layers of complexity that affect the study of gene-diet interactions and cancer risk in humans.

  14. Direct and indirect genetic effects in life-history traits of flour beetles (Tribolium castaneum).

    Science.gov (United States)

    Ellen, Esther D; Peeters, Katrijn; Verhoeven, Merel; Gols, Rieta; Harvey, Jeffrey A; Wade, Michael J; Dicke, Marcel; Bijma, Piter

    2016-01-01

    Indirect genetic effects (IGEs) are the basis of social interactions among conspecifics, and can affect genetic variation of nonsocial and social traits. We used flour beetles (Tribolium castaneum) of two phenotypically distinguishable populations to estimate genetic (co)variances and the effect of IGEs on three life-history traits: development time (DT), growth rate (GR), and pupal body mass (BM). We found that GR was strongly affected by social environment with IGEs accounting for 18% of the heritable variation. We also discovered a sex-specific social effect: male ratio in a group significantly affected both GR and BM; that is, beetles grew larger and faster in male-biased social environments. Such sex-specific IGEs have not previously been demonstrated in a nonsocial insect. Our results show that beetles that achieve a higher BM do so via a slower GR in response to social environment. Existing models of evolution in age-structured or stage-structured populations do not account for IGEs of social cohorts. It is likely that such IGEs have played a key role in the evolution of developmental plasticity shown by Tenebrionid larvae in response to density. Our results document an important source of genetic variation for GR, often overlooked in life-history theory.

  15. Successful live birth after rescue ICSI following failed fertilization

    Directory of Open Access Journals (Sweden)

    Neeta Singh

    2013-01-01

    Full Text Available In a conventional IVF cycle unexpected complete fertilization failure may occur in 10-25% of infertile women. To overcome this barrier of fertilization failure, some investigators have suggested intracytoplasmic sperm injection (ICSI on day 1 of an unfertilized mature oocyte, the so called "rescue ICSI". We report a case of fertilization failure followed by rescue ICSI resulting in a live birth. Although the success of rescue ICSI is still questionable, this procedure is worth an attempt in order to give the best chance to the couple in that cycle.

  16. Successful live birth after rescue ICSI following failed fertilization

    Science.gov (United States)

    Singh, Neeta; Malhotra, Neena; Shende, Unnati; Tiwari, Abanish

    2013-01-01

    In a conventional IVF cycle unexpected complete fertilization failure may occur in 10-25% of infertile women. To overcome this barrier of fertilization failure, some investigators have suggested intracytoplasmic sperm injection (ICSI) on day 1 of an unfertilized mature oocyte, the so called “rescue ICSI”. We report a case of fertilization failure followed by rescue ICSI resulting in a live birth. Although the success of rescue ICSI is still questionable, this procedure is worth an attempt in order to give the best chance to the couple in that cycle. PMID:23869158

  17. Successful live birth after rescue ICSI following failed fertilization.

    Science.gov (United States)

    Singh, Neeta; Malhotra, Neena; Shende, Unnati; Tiwari, Abanish

    2013-01-01

    In a conventional IVF cycle unexpected complete fertilization failure may occur in 10-25% of infertile women. To overcome this barrier of fertilization failure, some investigators have suggested intracytoplasmic sperm injection (ICSI) on day 1 of an unfertilized mature oocyte, the so called "rescue ICSI". We report a case of fertilization failure followed by rescue ICSI resulting in a live birth. Although the success of rescue ICSI is still questionable, this procedure is worth an attempt in order to give the best chance to the couple in that cycle.

  18. Medical rescue of naval combat:challenge and future

    Institute of Scientific and Technical Information of China (English)

    Hai Jin; Li-Jun Hou; Xiao-Bing Fu

    2015-01-01

    There has been no large-scale naval combat in the last 30 years. With the rapid development of battleships, weapons manufacturing and electronic technology, naval combat will present some new characteristics. Additionally, naval combat is facing unprecedented challenges. In this paper, we discuss the topic of medical rescue at sea: what chal-lenges we face and what we could do. The contents discussed in this paper contain battlefield self-aid buddy care, clinical skills, organized health services, medical training and future medical research programs. We also discuss the characteristics of modern naval combat, medical rescue challenges, medical treatment highlights and future develop-ments of medical rescue at sea.

  19. Influence of a 100-M Simulated In-Water Rescue on Cardiopulmonary Parameters.

    Science.gov (United States)

    Sousa, Ana; Fernandes, Ricardo J; Rodríguez, Núria; Abraldes, J Arturo

    2017-01-01

    Cardiopulmonary resuscitation (CPR) after a drowning episode is performed under fatigue conditions. However, the characterization of CPR in this context is still unknown. Our purpose was to investigate the effect of a 100-m simulated in-water rescue on CPR and physiological parameters in trained certified lifeguards. Thirty trained certified lifeguards (age 24.6 ± 3.8 yrs; height 178.2 ± 7.4 cm and weight 76.9 ± 10.6 kg) completed two protocols using an adult manikin: (i) 4-min CPR after 4-min baseline conditions (CPR), and (ii) 4-min CPR after a 100-m simulated in-water rescue in the sea (CPR Rescue), both with a compression-ventilation ratio of 30:2. Physiological parameters of the subjects were continuously measured (breath-by-breath) during baseline and CPR conditions, using a telemetric portable gas analyzer (K4b (2) , Cosmed, Rome, Italy) and CPR techniques analyzed using two HD video cameras (Sony, HDR PJ30VE, Japan). The 100-m simulated in-water rescue induced higher values of physiological related parameters all over the 4-min CPR exercise (e.g. Tidal Volume: 1.5 ± 0.4 and 2.4 ± 0.5 L; VO2: 15.9 ± 3.9 and 22.8 ± 3.2 ml.kg(-1).min(-1); R: 0.9 ± 0.1 and 1.2 ± 0.1, for CPR and CPR Rescue, respectively). However, the compression rate was higher in CPR Rescue compared to the CPR in the first (cycle 3: 85 ± 12 vs. 78 ± 9 s) and last three complete cycles (cycle 12: 100 ± 12 and 85 ± 12 s), and, in both conditions, it increased from the first to the last CPR complete cycle. Fatigue induced by the 100-m simulated in-water rescue had a strong physiological expression but a minimal impact on CPR performance. Key words: CPR; fatigue; lifeguards; VO2.

  20. Next-generation sequencing approaches in genetic rodent model systems to study functional effects of human genetic variation

    NARCIS (Netherlands)

    Guryev, Victor; Cuppen, Edwin

    2009-01-01

    Rapid advances in DNA sequencing improve existing techniques and enable new approaches in genetics and functional genomics, bringing about unprecedented coverage, resolution and sensitivity. Enhanced toolsets can facilitate the untangling of connections between genomic variation, environmental

  1. Next-generation sequencing approaches in genetic rodent model systems to study functional effects of human genetic variation.

    NARCIS (Netherlands)

    Guryev, V.; Cuppen, E.

    2009-01-01

    Rapid advances in DNA sequencing improve existing techniques and enable new approaches in genetics and functional genomics, bringing about unprecedented coverage, resolution and sensitivity. Enhanced toolsets can facilitate the untangling of connections between genomic variation, environmental facto

  2. Next-generation sequencing approaches in genetic rodent model systems to study functional effects of human genetic variation

    NARCIS (Netherlands)

    Guryev, Victor; Cuppen, Edwin

    2009-01-01

    Rapid advances in DNA sequencing improve existing techniques and enable new approaches in genetics and functional genomics, bringing about unprecedented coverage, resolution and sensitivity. Enhanced toolsets can facilitate the untangling of connections between genomic variation, environmental facto

  3. Genetic Effects on DNA Methylation and Its Potential Relevance for Obesity in Mexican Americans

    Science.gov (United States)

    Carless, Melanie A.; Kulkarni, Hemant; Kos, Mark Z.; Charlesworth, Jac; Peralta, Juan M.; Göring, Harald H. H.; Curran, Joanne E.; Almasy, Laura; Dyer, Thomas D.; Comuzzie, Anthony G.; Mahaney, Michael C.; Blangero, John

    2013-01-01

    Several studies have identified effects of genetic variation on DNA methylation patterns and associated heritability, with research primarily focused on Caucasian individuals. In this paper, we examine the evidence for genetic effects on DNA methylation in a Mexican American cohort, a population burdened by a high prevalence of obesity. Using an Illumina-based platform and following stringent quality control procedures, we assessed a total of 395 CpG sites in peripheral blood samples obtained from 183 Mexican American individuals for evidence of heritability, proximal genetic regulation and association with age, sex and obesity measures (i.e. waist circumference and body mass index). We identified 16 CpG sites (∼4%) that were significantly heritable after Bonferroni correction for multiple testing and 27 CpG sites (∼6.9%) that showed evidence of genetic effects. Six CpG sites (∼2%) were associated with age, primarily exhibiting positive relationships, including CpG sites in two genes that have been implicated in previous genome-wide methylation studies of age (FZD9 and MYOD1). In addition, we identified significant associations between three CpG sites (∼1%) and sex, including DNA methylation in CASP6, a gene that may respond to estradiol treatment, and in HSD17B12, which encodes a sex steroid hormone. Although we did not identify any significant associations between DNA methylation and the obesity measures, several nominally significant results were observed in genes related to adipogenesis, obesity, energy homeostasis and glucose homeostasis (ARHGAP9, CDKN2A, FRZB, HOXA5, JAK3, MEST, NPY, PEG3 and SMARCB1). In conclusion, we were able to replicate several findings from previous studies in our Mexican American cohort, supporting an important role for genetic effects on DNA methylation. In addition, we found a significant influence of age and sex on DNA methylation, and report on trend-level, novel associations between DNA methylation and measures of obesity

  4. Genetic effects on DNA methylation and its potential relevance for obesity in Mexican Americans.

    Directory of Open Access Journals (Sweden)

    Melanie A Carless

    Full Text Available Several studies have identified effects of genetic variation on DNA methylation patterns and associated heritability, with research primarily focused on Caucasian individuals. In this paper, we examine the evidence for genetic effects on DNA methylation in a Mexican American cohort, a population burdened by a high prevalence of obesity. Using an Illumina-based platform and following stringent quality control procedures, we assessed a total of 395 CpG sites in peripheral blood samples obtained from 183 Mexican American individuals for evidence of heritability, proximal genetic regulation and association with age, sex and obesity measures (i.e. waist circumference and body mass index. We identified 16 CpG sites (~4% that were significantly heritable after Bonferroni correction for multiple testing and 27 CpG sites (~6.9% that showed evidence of genetic effects. Six CpG sites (~2% were associated with age, primarily exhibiting positive relationships, including CpG sites in two genes that have been implicated in previous genome-wide methylation studies of age (FZD9 and MYOD1. In addition, we identified significant associations between three CpG sites (~1% and sex, including DNA methylation in CASP6, a gene that may respond to estradiol treatment, and in HSD17B12, which encodes a sex steroid hormone. Although we did not identify any significant associations between DNA methylation and the obesity measures, several nominally significant results were observed in genes related to adipogenesis, obesity, energy homeostasis and glucose homeostasis (ARHGAP9, CDKN2A, FRZB, HOXA5, JAK3, MEST, NPY, PEG3 and SMARCB1. In conclusion, we were able to replicate several findings from previous studies in our Mexican American cohort, supporting an important role for genetic effects on DNA methylation. In addition, we found a significant influence of age and sex on DNA methylation, and report on trend-level, novel associations between DNA methylation and measures of

  5. Cost-effectiveness of MODY genetic testing: translating genomic advances into practical health applications.

    Science.gov (United States)

    Naylor, Rochelle N; John, Priya M; Winn, Aaron N; Carmody, David; Greeley, Siri Atma W; Philipson, Louis H; Bell, Graeme I; Huang, Elbert S

    2014-01-01

    OBJECTIVE To evaluate the cost-effectiveness of a genetic testing policy for HNF1A-, HNF4A-, and GCK-MODY in a hypothetical cohort of type 2 diabetic patients 25-40 years old with a MODY prevalence of 2%. RESEARCH DESIGN AND METHODS We used a simulation model of type 2 diabetes complications based on UK Prospective Diabetes Study data, modified to account for the natural history of disease by genetic subtype to compare a policy of genetic testing at diabetes diagnosis versus a policy of no testing. Under the screening policy, successful sulfonylurea treatment of HNF1A-MODY and HNF4A-MODY was modeled to produce a glycosylated hemoglobin reduction of -1.5% compared with usual care. GCK-MODY received no therapy. Main outcome measures were costs and quality-adjusted life years (QALYs) based on lifetime risk of complications and treatments, expressed as the incremental cost-effectiveness ratio (ICER) (USD/QALY). RESULTS The testing policy yielded an average gain of 0.012 QALYs and resulted in an ICER of 205,000 USD. Sensitivity analysis showed that if the MODY prevalence was 6%, the ICER would be ~50,000 USD. If MODY prevalence was >30%, the testing policy was cost saving. Reducing genetic testing costs to 700 USD also resulted in an ICER of ~50,000 USD. CONCLUSIONS Our simulated model suggests that a policy of testing for MODY in selected populations is cost-effective for the U.S. based on contemporary ICER thresholds. Higher prevalence of MODY in the tested population or decreased testing costs would enhance cost-effectiveness. Our results make a compelling argument for routine coverage of genetic testing in patients with high clinical suspicion of MODY.

  6. Genetic variation for parental effects on the propensity to gregarise in Locusta migratoria

    Directory of Open Access Journals (Sweden)

    Foucart Antoine

    2008-02-01

    Full Text Available Abstract Background Environmental parental effects can have important ecological and evolutionary consequences, yet little is known about genetic variation among populations in the plastic responses of offspring phenotypes to parental environmental conditions. This type of variation may lead to rapid phenotypic divergence among populations and facilitate speciation. With respect to density-dependent phenotypic plasticity, locust species (Orthoptera: family Acrididae, exhibit spectacular developmental and behavioural shifts in response to population density, called phase change. Given the significance of phase change in locust outbreaks and control, its triggering processes have been widely investigated. Whereas crowding within the lifetime of both offspring and parents has emerged as a primary causal factor of phase change, less is known about intraspecific genetic variation in the expression of phase change, and in particular in response to the parental environment. We conducted a laboratory experiment that explicitly controlled for the environmental effects of parental rearing density. This design enabled us to compare the parental effects on offspring expression of phase-related traits between two naturally-occurring, genetically distinct populations of Locusta migratoria that differed in their historical patterns of high population density outbreak events. Results We found that locusts from a historically outbreaking population of L. migratoria expressed parentally-inherited density-dependent phase changes to a greater degree than those from a historically non-outbreaking population. Conclusion Because locusts from both populations were raised in a common environment during our experiment, a genetically-based process must be responsible for the observed variation in the propensity to express phase change. This result emphasizes the importance of genetic factors in the expression of phase traits and calls for further investigations on density

  7. Computer Security: DNS to the rescue!

    CERN Document Server

    Stefan Lueders, Computer Security Team

    2016-01-01

    Why you should be grateful to the Domain Name System at CERN.   Incidents involving so-called “drive-by” infections and “ransomware” are on the rise. Whilst an up-to-date and fully patched operating system is essential; whilst running anti-virus software with current virus signature files is a must; whilst “stop --- think --- don’t click” surely helps, we can still go one step further in better protecting your computers: DNS to the rescue. The DNS, short for Domain Name System, translates the web address you want to visit (like “http://cern.ch”) to a machine-readable format (the IP address, here: “188.184.9.234”). For years, we have automatically monitored the DNS translation requests made by your favourite web browser (actually by your operating system, but that doesn’t matter here), and we have automatically informed you if your computer tried to access a website known to hos...

  8. Direct and maternal genetic effects for carcass traits in beef cattle.

    Science.gov (United States)

    DeRouen, S M; Franke, D E; Bidner, T D; Blouin, D C

    1992-12-01

    Carcass measurements were taken on 1,537 steers produced over four generations in a rotational crossbreeding study. Breed direct and maternal additive and heterotic genetic effects were estimated for hot carcass weight (HCWT), retail yield (RY), longissimus muscle area (LM), fat thickness (FT), marbling score (MS), and Warner-Bratzler shear force (WBS). Angus (A), Brahman (B), Charolais (C), and Hereford (H) breeds were involved in straightbred, first-cross, and two-, three-, and four-breed rotational crossbred matings with each crossbred combination including the B. Breed direct (Ig) and maternal (Mg) additive genetic effects and direct (Ih) and maternal (Mh) heterotic genetic effects were estimated using a multiple-regression model. The Ig and Mg effects were expressed as deviations from the overall mean. The IgC effects (Ig for C breed) were significant for HCWT, RY, and LM and resulted in leaner, heavier carcasses. The IgA and IgH effects were, in general, negative (P carcass traits studied.

  9. Disentangle the Causes of the Road Barrier Effect in Small Mammals through Genetic Patterns.

    Directory of Open Access Journals (Sweden)

    Fernando Ascensão

    Full Text Available Road barrier effect is among the foremost negative impacts of roads on wildlife. Knowledge of the factors responsible for the road barrier effect is crucial to understand and predict species' responses to roads, and to improve mitigation measures in the context of management and conservation. We built a set of hypothesis aiming to infer the most probable cause of road barrier effect (traffic effect or road surface avoidance, while controlling for the potentially confounding effects road width, traffic volume and road age. The wood mouse Apodemus sylvaticus was used as a model species of small and forest-dwelling mammals, which are more likely to be affected by gaps in cover such as those resulting from road construction. We confront genetic patterns from opposite and same roadsides from samples of three highways and used computer simulations to infer migration rates between opposite roadsides. Genetic patterns from 302 samples (ca. 100 per highway suggest that the highway barrier effect for wood mouse is due to road surface avoidance. However, from the simulations we estimated a migration rate of about 5% between opposite roadsides, indicating that some limited gene flow across highways does occur. To reduce highway impact on population genetic diversity and structure, possible mitigation measures could include retrofitting of culverts and underpasses to increase their attractiveness and facilitate their use by wood mice and other species, and setting aside roadside strips without vegetation removal to facilitate establishment and dispersal of small mammals.

  10. Development of new techniques of using irradiation in the genetic improvement of warm season grasses, the assessment of their genetic and cytogenetic effects and biomass production from grass. Annual progress report, November 1, 1979 to October 31, 1980

    Energy Technology Data Exchange (ETDEWEB)

    Burton, G W; Hanna, W W

    1980-01-01

    New techniques are described for using irradiation and chemical mutagens in the genetic improvement of several warm season grasses. Genetic and cytogenetic effects of these treatments are also being studied. (ACR)

  11. Inhibition of p21-activated kinase rescues symptoms of fragile X syndrome in mice.

    Science.gov (United States)

    Hayashi, Mansuo L; Rao, B S Shankaranarayana; Seo, Jin-Soo; Choi, Han-Saem; Dolan, Bridget M; Choi, Se-Young; Chattarji, Sumantra; Tonegawa, Susumu

    2007-07-03

    Fragile X syndrome (FXS), the most commonly inherited form of mental retardation and autism, is caused by transcriptional silencing of the fragile X mental retardation 1 (FMR1) gene and consequent loss of the fragile X mental retardation protein. Despite growing evidence suggesting a role of specific receptors and biochemical pathways in FXS pathogenesis, an effective therapeutic method has not been developed. Here, we report that abnormalities in FMR1 knockout (KO) mice, an animal model of FXS, are ameliorated, at least partially, at both cellular and behavioral levels, by an inhibition of the catalytic activity of p21-activated kinase (PAK), a kinase known to play a critical role in actin polymerization and dendritic spine morphogenesis. Greater spine density and elongated spines in the cortex, morphological synaptic abnormalities commonly observed in FXS, are at least partially restored by postnatal expression of a dominant negative (dn) PAK transgene in the forebrain. Likewise, the deficit in cortical long-term potentiation observed in FMR1 KO mice is fully restored by the dnPAK transgene. Several behavioral abnormalities associated with FMR1 KO mice, including those in locomotor activity, stereotypy, anxiety, and trace fear conditioning are also ameliorated, partially or fully, by the dnPAK transgene. Finally, we demonstrate a direct interaction between PAK and fragile X mental retardation protein in vitro. Overall, our results demonstrate the genetic rescue of phenotypes in a FXS mouse model and suggest that the PAK signaling pathway, including the catalytic activity of PAK, is a novel intervention site for development of an FXS and autism therapy.

  12. The Lantibiotic NAI-107 Efficiently Rescues Drosophila melanogaster from Infection with Methicillin-Resistant Staphylococcus aureus USA300

    Science.gov (United States)

    Mojsoska, Biljana; Cruz, João C. S.; Donadio, Stefano; Jenssen, Håvard

    2016-01-01

    We used the fruit fly Drosophila melanogaster as a cost-effective in vivo model to evaluate the efficacy of novel antibacterial peptides and peptoids for treatment of methicillin-resistant Staphylococcus aureus (MRSA) infections. A panel of peptides with known antibacterial activity in vitro and/or in vivo was tested in Drosophila. Although most peptides and peptoids that were effective in vitro failed to rescue lethal effects of S. aureus infections in vivo, we found that two lantibiotics, nisin and NAI-107, rescued adult flies from fatal infections. Furthermore, NAI-107 rescued mortality of infection with the MRSA strain USA300 with an efficacy equivalent to that of vancomycin, a widely applied antibiotic for the treatment of serious MRSA infections. These results establish Drosophila as a useful model for in vivo drug evaluation of antibacterial peptides. PMID:27381394

  13. Socioeconomic influences on the effects of a genetic testing direct-to-consumer marketing campaign.

    Science.gov (United States)

    Bowen, D J; Harris, J; Jorgensen, C M; Myers, M F; Kuniyuki, A

    2010-01-01

    Direct-to-consumer marketing of genetic tests is beginning to appear in select markets, and little independent evaluation has been conducted on the effects of this marketing on consumer attitudes or behavior. The purpose of this paper is to identify the effects of socioeconomic status on women's reactions to such a campaign, including knowledge of the test, perceptions of personal risk, communications with others about the test, and interest in pursuing the test. The only United States provider of genetic testing for breast and ovarian cancer susceptibility (BRCA1/2 testing) conducted a pilot marketing campaign that targeted women aged 25-54 and their health care providers in 2 cities, Atlanta, Ga., and Denver, Colo. The design for the evaluation was a post campaign consumer survey, based on a cross-sectional stratified random sample of women in the 2 intervention sites and 2 comparison sites. The campaign had no differential impact by socioeconomic status. However, there was a consistent relationship between socioeconomic status and several outcome variables, including knowledge of the test, beliefs about the test, and desire to know about genetic risk. These data indicate that socioeconomic status may play a role in uptake of genetic services, regardless of response to a media campaign. Copyright 2009 S. Karger AG, Basel.

  14. Genetic effects of air pollution on forest tree species of the Carpathian Mountains.

    Science.gov (United States)

    Longauer, Roman; Gömöry, Dusan; Paule, Ladislav; Blada, Ioan; Popescu, Flaviu; Mankovska, Blanka; Müller-Starck, Gerhard; Schubert, Roland; Percy, Kevin; Szaro, Robert C; Karnosky, David F

    2004-07-01

    The effects of air pollution on the genetic structure of Norway spruce, European silver fir and European beech were studied at four polluted sites in Slovakia, Romania and Czech Republic. In order to reduce potential effects of site heterogeneity on the health condition, pair-wise sampling of pollution-tolerant and sensitive trees was applied. Genotypes of sampled trees were determined at 21 isozyme gene loci of spruce, 18 loci of fir and 15 loci of beech. In comparison with Norway spruce, fewer genetic differences were revealed in beech and almost no differentiation between pollution-tolerant and sensitive trees was observed in fir. In adult stands of Norway spruce, sensitive trees exhibited higher genetic multiplicity and diversity. The decline of pollution-sensitive trees may result thus in a gradual genetic depletion of pollution-exposed populations of Norway spruce through the loss of less frequent alleles with potential adaptive significance to altered stressing regimes in the future. Comparison of the subsets of sensitive and tolerant Norway spruce individuals as determined by presence or absence of discolorations ("spruce yellowing") revealed different heterozygosity at 3 out of 11 polymorphic loci.

  15. [Genetic effects in populations of plants growing in the zone of Kyshtym and Chernobyl accidents].

    Science.gov (United States)

    Shevchenko, V A; Kal'chenko, V A; Abramov, V I; Rubanovich, A V; Shevchenko, V V; Grinikh, L I

    1999-01-01

    Studies to analyze the genetic processes in natural populations of plants were started on the territory of the East-Ural Radioactive Trace (EURT) in 1962 and in the zone of the Chernobyl accident in May 1986. The main directions of the genetic studies in both radioactive areas were similar: 1) study of the mutation process intensity depending on the dose and dose rate and analysis of dose-effect relationships for different genetic changes (point mutations, chromosome aberrations in mitosis and meiosis) in irradiated plant populations; 2) study of the mutation process dynamics in generations of chronically (prolongly) irradiated populations of plants; 3) analysis of microevolutionary processes in irradiated plant populations. The report presents an analysis of observed dose-effect relationships under the action of radiation on populations of Arabidopsis thaliana, Pinus sylvestris and a number of other plant species. Analysis of the mutation processes dynamics in 8 Arabidopsis populations growing in the zone of the Chernobyl catastrophe has demonstrated that the level of the embryo lethal mutations 10 years after the accident in the irradiated populations significantly exceeds the control level. The following phenomena observed in chronically irradiated populations have also been considered: increased radioresistance of irradiated populations (radioadaptation), the appearance of abnormal karyotypes and selective markers upon chronic irradiation. The authors call attention to the high importance of monitoring of genetic processes in irradiated plant populations for understanding of the action of radiation on human populations.

  16. The Effect of Multiple Paternity on Genetic Diversity of Small Populations during and after Colonisation

    KAUST Repository

    Rafajlović, Marina

    2013-10-28

    Genetic variation within and among populations is influenced by the genetic content of the founders and the migrants following establishment. This is particularly true if populations are small, migration rate low and habitats arranged in a stepping-stone fashion. Under these circumstances the level of multiple paternity is critical since multiply mated females bring more genetic variation into founder groups than single mated females. One such example is the marine snail Littorina saxatilis that during postglacial times has invaded mainland refuge areas and thereafter small islands emerging due to isostatic uplift by occasional rafting of multiply mated females. We modelled effects of varying degrees of multiple paternity on the genetic variation of island populations colonised by the founders spreading from the mainland, by quantifying the population heterozygosity during both the transient colonisation process, and after a steady state (with migration) has been reached. During colonisation, multiple mating by 2-10 males increased the heterozygosity by 10-300% in comparison with single paternity, while in the steady state the increase was 10-50% compared with single paternity. In the steady state the increase of heterozygosity due to multiple paternity is determined by a corresponding increase in effective population size. During colonisation, by contrast, the increase in heterozygosity is larger and it cannot be explained in terms of the effective population size alone. During the steady-state phase bursts of high genetic variation spread through the system, and far from the mainland this led to short periods of high diversity separated by long periods of low diversity. The size of these fluctuations was boosted by multiple paternity. We conclude that following glacial periods of extirpation, recolonization of isolated habitats by this species has been supported by its high level of multiple paternity. 2013 Rafajlovi? et al.

  17. The effect of multiple paternity on genetic diversity of small populations during and after colonisation.

    Directory of Open Access Journals (Sweden)

    Marina Rafajlović

    Full Text Available Genetic variation within and among populations is influenced by the genetic content of the founders and the migrants following establishment. This is particularly true if populations are small, migration rate low and habitats arranged in a stepping-stone fashion. Under these circumstances the level of multiple paternity is critical since multiply mated females bring more genetic variation into founder groups than single mated females. One such example is the marine snail Littorina saxatilis that during postglacial times has invaded mainland refuge areas and thereafter small islands emerging due to isostatic uplift by occasional rafting of multiply mated females. We modelled effects of varying degrees of multiple paternity on the genetic variation of island populations colonised by the founders spreading from the mainland, by quantifying the population heterozygosity during both the transient colonisation process, and after a steady state (with migration has been reached. During colonisation, multiple mating by [Formula: see text] males increased the heterozygosity by [Formula: see text] in comparison with single paternity, while in the steady state the increase was [Formula: see text] compared with single paternity. In the steady state the increase of heterozygosity due to multiple paternity is determined by a corresponding increase in effective population size. During colonisation, by contrast, the increase in heterozygosity is larger and it cannot be explained in terms of the effective population size alone. During the steady-state phase bursts of high genetic variation spread through the system, and far from the mainland this led to short periods of high diversity separated by long periods of low diversity. The size of these fluctuations was boosted by multiple paternity. We conclude that following glacial periods of extirpation, recolonization of isolated habitats by this species has been supported by its high level of multiple paternity.

  18. Multivariable Mendelian randomization: the use of pleiotropic genetic variants to estimate causal effects.

    Science.gov (United States)

    Burgess, Stephen; Thompson, Simon G

    2015-02-15

    A conventional Mendelian randomization analysis assesses the causal effect of a risk factor on an outcome by using genetic variants that are solely associated with the risk factor of interest as instrumental variables. However, in some cases, such as the case of triglyceride level as a risk factor for cardiovascular disease, it may be difficult to find a relevant genetic variant that is not also associated with related risk factors, such as other lipid fractions. Such a variant is known as pleiotropic. In this paper, we propose an extension of Mendelian randomization that uses multiple genetic variants associated with several measured risk factors to simultaneously estimate the causal effect of each of the risk factors on the outcome. This "multivariable Mendelian randomization" approach is similar to the simultaneous assessment of several treatments in a factorial randomized trial. In this paper, methods for estimating the causal effects are presented and compared using real and simulated data, and the assumptions necessary for a valid multivariable Mendelian randomization analysis are discussed. Subject to these assumptions, we demonstrate that triglyceride-related pathways have a causal effect on the risk of coronary heart disease independent of the effects of low-density lipoprotein cholesterol and high-density lipoprotein cholesterol. © The Author 2015. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health.

  19. Use of Genetic Effects and Genotype by Environmental Interactions for the Classification of Mexican Races of Maize

    Science.gov (United States)

    Cervantes, Tarcicio S.; Goodman, Major M.; Casas, Eduardo D.; Rawlings, John O.

    1978-01-01

    To examine the questions of whether the additive and dominance effects present for morphological characters in racial crosses are of sufficient consistency and magnitude to allow such genetic effects to be used for racial classification, we used a diallel experiment among the 25 well-defined Mexican races of maize, which include the ancestral stocks of most commercial and genetic maize types. With such an experiment, genetic effects and genotype by environmental interactions for one or more characters can be used to measure genetic and adaptational or environmental similarity. We used average parental effects (general combining abilities), specific effects, and genotype by environmental effects of 21 characters from the diallel (grown at three locations) to group the Mexican races of maize. The groupings based upon average genetic effects and upon genotype by environmental interactions are more satisfactory than groupings based upon specific effects. The standard errors for genetic distances based upon specific (largely dominance) effects seem to be too high for practical use. Principal components analyses of the same data suggest a similar conclusion.—The groupings based upon average genetic effects are in general agreement with previous studies, with the exception of Maíz Dulce, which is grouped with the Cónicos, rather than being isolated from the other Mexican races of maize. PMID:17248866

  20. It's Often Family to The Rescue During Opioid ODs

    Science.gov (United States)

    ... page: https://medlineplus.gov/news/fullstory_165671.html It's Often Family to the Rescue During Opioid ODs ... Narcan, Evzio) -- and found that family members used it in about 20 percent of slightly over 4, ...

  1. It's Snakes to the Rescue for Heart Patients

    Science.gov (United States)

    ... page: https://medlineplus.gov/news/fullstory_166383.html It's Snakes to the Rescue for Heart Patients Venom ... by inhibiting platelets and preventing blood clotting. However, it is often at the cost of serious bleeding ...

  2. Rescue surgical pulmonary embolectomy for acute massive pulmonary embolism

    Directory of Open Access Journals (Sweden)

    Ahmed Abdulrahman Elassal

    2016-08-01

    Conclusion: Surgical pulmonary embolectomy is a rescue operation in high-risk PE. It could save patients with preoperative cardiac arrest. Early diagnosis, interdisciplinary team action, appropriate and emergent treatment strategy are necessary for favorable outcome.

  3. The Cognitive Dissonance between Child Rescue and Child Protection

    NARCIS (Netherlands)

    K.E. Cheney (Kristen)

    2015-01-01

    textabstract‘Saving orphans’ has become an industry that irrevocably harms children and undermines the development of child welfare systems. We must replace the drive to rescue with the desire to protect.

  4. Expectations of a business rescue plan: international directives for ...

    African Journals Online (AJOL)

    Kirstam

    2014-09-01

    Sep 1, 2014 ... The essence of corporate rescue processes was initiated by the United ..... 1Australia's Corporations Act (Australian Government 2005), ... and delegates corporate governance responsibilities to an external administrator.

  5. Guidance of Autonomous Amphibious Vehicles for Flood Rescue Support

    Directory of Open Access Journals (Sweden)

    Shankarachary Ragi

    2013-01-01

    Full Text Available We develop a path-planning algorithm to guide autonomous amphibious vehicles (AAVs for flood rescue support missions. Specifically, we develop an algorithm to control multiple AAVs to reach/rescue multiple victims (also called targets in a flood scenario in 2D, where the flood water flows across the scene and the targets move (drifted by the flood water along the flood stream. A target is said to be rescued if an AAV lies within a circular region of a certain radius around the target. The goal is to control the AAVs such that each target gets rescued while optimizing a certain performance objective. The algorithm design is based on the theory of partially observable Markov decision process (POMDP. In practice, POMDP problems are hard to solve exactly, so we use an approximation method called nominal belief-state optimization (NBO. We compare the performance of the NBO approach with a greedy approach.

  6. Search and Rescue Plan: Swan Lake National Wildlife Refuge

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This plan will provide guidance to help efficiently handle a search and rescue (SAR) operation on Swan Lake National Wildlife Refuge. The purpose of this plan is to...

  7. Synaptic and cellular changes induced by the schizophrenia susceptibility gene G72 are rescued by N-acetylcysteine treatment

    Science.gov (United States)

    Pósfai, B; Cserép, C; Hegedüs, P; Szabadits, E; Otte, D M; Zimmer, A; Watanabe, M; Freund, T F; Nyiri, G

    2016-01-01

    Genetic studies have linked the primate-specific gene locus G72 to the development of schizophrenia and bipolar disorder. Transgenic mice carrying the entire gene locus express G72 mRNA in dentate gyrus (DG) and entorhinal cortex, causing altered electrophysiological properties of their connections. These transgenic mice exhibit behavioral alterations related to psychiatric diseases, including cognitive deficits that can be reversed by treatment with N-acetylcysteine, which was also found to be effective in human patients. Here, we show that G72 transgenic mice have larger excitatory synapses with an increased amount of N-methyl-d-aspartate (NMDA) receptors in the molecular layer of DG, compared with wild-type littermates. Furthermore, transgenic animals have lower number of dentate granule cells with a parallel, but an even stronger decrease in the number of excitatory synapses in the molecular layer. Importantly, we also show that treatment with N-acetylcysteine can effectively normalize all these changes in transgenic animals, resulting in a state similar to wild-type mice. Our results show that G72 transcripts induce robust alterations in the glutamatergic system at the synaptic level that can be rescued with N-acetylcysteine treatment. PMID:27163208

  8. The habitus of 'rescue' and its significance for implementation of rapid response systems in acute health care.

    Science.gov (United States)

    Mackintosh, Nicola; Humphrey, Charlotte; Sandall, Jane

    2014-11-01

    The need to focus on patient safety and improve the quality and consistency of medical care in acute hospital settings has been highlighted in a number of UK and international reports. When patients on a hospital ward become acutely unwell there is often a window of opportunity for staff, patients and relatives to contribute to the 'rescue' process by intervening in the trajectory of clinical deterioration. This paper explores the social and institutional processes associated with the practice of rescue, and implications for the implementation and effectiveness of rapid response systems (RRSs) within acute health care. An ethnographic case study was conducted in 2009 in two UK hospitals (focussing on the medical directorates in each organisation). Data collection involved 180 h of observation, 35 staff interviews (doctors, nurses, health care assistants and managers) and documentary review. Analysis was informed by Bourdieu's logic of practice and his relational concept of the 'field' of the general medical ward. Three themes illustrated the nature of rescue work within the field and collective rules which guided associated occupational distinction practices: (1) the 'dirty work' of vital sign recording and its distinction from diagnostic (higher order) interpretive work; (2) the moral order of legitimacy claims for additional help; and (3) professional deference and the selective managerial control of rescue work. The discourse of rescue provided a means of exercising greater control over clinical uncertainty. The acquisition of 'rescue capital' enabled the social positioning of health care assistants, nurses and doctors, and shaped use of the RRS on the wards. Boundary work, professional legitimation and jurisdictional claims defined the social practice of rescue, as clinical staff had to balance safety, professional and organisational concerns within the field. This paper offers a nuanced understanding of patient safety on the front-line, challenging notions of

  9. Interspecific hybridization of Trifolium alexandrinum with T. constantinopolitanum using embryo rescue.

    Science.gov (United States)

    Roy, A K; Malaviya, D R; Kaushal, P; Kumar, B; Tiwari, A

    2004-04-01

    The embryo rescue technique was successfully used to raise hybrids between Trifolium alexandrinum and T. constantinopolitanum. As a result of its narrow genetic base, genetic improvement in Egyptian clover (syn. Berseem; T. alexandrinum), an important fodder crop in tropical and subtropical countries, is hampered, thereby making it imperative to introduce alien genes from related species. In a conventional interspecific hybridization program, hybrids could not be raised due to post-fertilization barriers. Of the several combinations tried, pollination 2 days after emasculation was found to be the best. Globular embryos were observed 5-7 days after pollination (DAP), followed by heart-shaped embryos 10-12 DAP. Embryos excised at the heart-shaped stage responded well to EC3 culture medium. Of 612 crosses, 33 healthy embryos could be excised and cultured on EC3 medium. The plumule emerged 8-12 days following inoculation. The embryo-rescued plants were hardened, inoculated with Rhizobium and transferred to the field. The hybrids showed intermediate morphological features with reduced pollen fertility (55-65%) and a chromosomal complement of 2n = 16. Biochemical characterization using isozymes confirmed hybridity.

  10. Do genetic diversity effects drive the benefits associated with multiple mating? A test in a marine invertebrate.

    Science.gov (United States)

    McLeod, Laura; Marshall, Dustin J

    2009-08-12

    Mothers that mate with multiple males often produce higher quality offspring than mothers that mate with a single male. By engaging in polyandry, mothers may increase their chances of mating with a compatible male or promote sperm competition -- both of which act to increase maternal fitness via the biasing of the paternity of offspring. Surprisingly, mating with multiple males, can carry benefits without biasing paternity and may be due simply to differences in genetic diversity between monandrous and polyandrous clutches but role of genetic diversity effects in driving the benefits of polyandry remains poorly tested. Disentangling indirect, genetic benefits from genetic diversity effects is challenging but crucial if we are to understand the selection pressures acting to promote polyandry. Here, we examine the post-fertilisation benefits of accessing the sperm of multiple males in an externally fertilising polychaete worm. Accessing the sperm of multiple males increases offspring performance but this benefit was driven entirely by genetic diversity effects and not by the biasing of paternity at fertilisation. Previous studies on polyandry should be interpreted cautiously as genetic diversity effects alone can explain the benefits of polyandry yet these diversity effects may be difficult to disentangle from other mechanisms. We suggest that future studies use a modified experimental design in order to discriminate between genetic diversity effects and indirect, genetic benefits.

  11. Do genetic diversity effects drive the benefits associated with multiple mating? A test in a marine invertebrate.

    Directory of Open Access Journals (Sweden)

    Laura McLeod

    Full Text Available BACKGROUND: Mothers that mate with multiple males often produce higher quality offspring than mothers that mate with a single male. By engaging in polyandry, mothers may increase their chances of mating with a compatible male or promote sperm competition -- both of which act to increase maternal fitness via the biasing of the paternity of offspring. Surprisingly, mating with multiple males, can carry benefits without biasing paternity and may be due simply to differences in genetic diversity between monandrous and polyandrous clutches but role of genetic diversity effects in driving the benefits of polyandry remains poorly tested. Disentangling indirect, genetic benefits from genetic diversity effects is challenging but crucial if we are to understand the selection pressures acting to promote polyandry. METHODOLOGY/PRINCIPAL FINDINGS: Here, we examine the post-fertilisation benefits of accessing the sperm of multiple males in an externally fertilising polychaete worm. Accessing the sperm of multiple males increases offspring performance but this benefit was driven entirely by genetic diversity effects and not by the biasing of paternity at fertilisation. CONCLUSIONS/SIGNIFICANCE: Previous studies on polyandry should be interpreted cautiously as genetic diversity effects alone can explain the benefits of polyandry yet these diversity effects may be difficult to disentangle from other mechanisms. We suggest that future studies use a modified experimental design in order to discriminate between genetic diversity effects and indirect, genetic benefits.

  12. Do Genetic Diversity Effects Drive the Benefits Associated with Multiple Mating? A Test in a Marine Invertebrate

    Science.gov (United States)

    McLeod, Laura; Marshall, Dustin J.

    2009-01-01

    Background Mothers that mate with multiple males often produce higher quality offspring than mothers that mate with a single male. By engaging in polyandry, mothers may increase their chances of mating with a compatible male or promote sperm competition - both of which act to increase maternal fitness via the biasing of the paternity of offspring. Surprisingly, mating with multiple males, can carry benefits without biasing paternity and may be due simply to differences in genetic diversity between monandrous and polyandrous clutches but role of genetic diversity effects in driving the benefits of polyandry remains poorly tested. Disentangling indirect, genetic benefits from genetic diversity effects is challenging but crucial if we are to understand the selection pressures acting to promote polyandry. Methodology/Principal Findings Here, we examine the post-fertilisation benefits of accessing the sperm of multiple males in an externally fertilising polychaete worm. Accessing the sperm of multiple males increases offspring performance but this benefit was driven entirely by genetic diversity effects and not by the biasing of paternity at fertilisation. Conclusions/Significance Previous studies on polyandry should be interpreted cautiously as genetic diversity effects alone can explain the benefits of polyandry yet these diversity effects may be difficult to disentangle from other mechanisms. We suggest that future studies use a modified experimental design in order to discriminate between genetic diversity effects and indirect, genetic benefits. PMID:19672289

  13. Health status and physical fitness of mines rescue brigadesmen

    Directory of Open Access Journals (Sweden)

    Hana Tomaskova

    2015-06-01

    Full Text Available Objectives: The aim of the study was to assess health status of regular and part-time mines rescue brigadesmen. Material and Methods: A group of 685 mines rescue brigadesmen was examined within the preventive testing – a basic internal, biochemistry and anthropometric examination, physical fitness testing. Results: The average age of the subjects was 41.96±7.18 years, the average exposure in mining was 20±8.1 years, out of that 11.95±7.85 years as mines rescue brigadesmen. Elevated levels of total serum cholesterol (T-CH and low-density lipoprotein cholesterol (LDL-CH were found in over 1/2 of the subjects. Systolic hypertension (systolic blood pressure (SBP ≥ 140 mm Hg was confirmed in 34%, overweight (body mass index (BMI ≥ 25 in 62.3% and obesity (BMI ≥ 30 in 20.4% of the examined mines rescue brigadesmen. The metabolic syndrome was found in 15.2% of persons. The highest physical fitness was found in mines rescue brigadesmen and the lowest in mine officers. Limit values of maximum oxygen uptake (VO2 max/kg determined by the management of the mine rescue station were not reached by every 3rd of all mines rescue brigadesmen. Compared with the control group of the Czech and Slovak population, the rescuers are taller, have greater BMI, higher percentage of body fat in all age categories and proportionally to that they achieve a higher maximum minute oxygen uptake; however, in relative values per kg of body weight their physical fitness is practically the same as that of the controls. Conclusions: The prevalence of risk factors of cardiovascular diseases and VO2 max/kg in the group of the mines rescue brigadesmen is comparable with that in the general untrained Czech population.

  14. Autonomous Unmanned Aerial Vehicle In Search And Rescue

    OpenAIRE

    Hammerseth, Vegard B

    2013-01-01

    This report presents a way of using autonomous drones to enhance search and rescue operations and takes the first steps in bringing the system to life. By using autonomous drones, less experience is required by the rescue personnel and drone specialists become excessive in this matter. Due to autonomy a drone can operate outside a valid radio link. Hence, when signal is lost, the craft can continue to search, buffer the information and send it when the link becomes active. By creating afforda...

  15. Health status and physical fitness of mines rescue brigadesmen.

    Science.gov (United States)

    Tomaskova, Hana; Jirak, Zdenek; Lvoncik, Samuel; Buzga, Marek; Zavadilova, Vladislava; Trlicova, Michaela

    2015-01-01

    The aim of the study was to assess health status of regular and part-time mines rescue brigadesmen. A group of 685 mines rescue brigadesmen was examined within the preventive testing - a basic internal, biochemistry and anthropometric examination, physical fitness testing. The average age of the subjects was 41.96±7.18 years, the average exposure in mining was 20±8.1 years, out of that 11.95±7.85 years as mines rescue brigadesmen. Elevated levels of total serum cholesterol (T-CH) and low-density lipoprotein cholesterol (LDL-CH) were found in over 1/2 of the subjects. Systolic hypertension (systolic blood pressure (SBP) ≥ 140 mm Hg) was confirmed in 34%, overweight (body mass index (BMI) ≥ 25) in 62.3% and obesity (BMI ≥ 30) in 20.4% of the examined mines rescue brigadesmen. The metabolic syndrome was found in 15.2% of persons. The highest physical fitness was found in mines rescue brigadesmen and the lowest in mine officers. Limit values of maximum oxygen uptake (VO2 max/kg) determined by the management of the mine rescue station were not reached by every 3rd of all mines rescue brigadesmen. Compared with the control group of the Czech and Slovak population, the rescuers are taller, have greater BMI, higher percentage of body fat in all age categories and proportionally to that they achieve a higher maximum minute oxygen uptake; however, in relative values per kg of body weight their physical fitness is practically the same as that of the controls. The prevalence of risk factors of cardiovascular diseases and VO2 max/kg in the group of the mines rescue brigadesmen is comparable with that in the general untrained Czech population. This work is available in Open Access model and licensed under a CC BY-NC 3.0 PL license.

  16. Autonomous Unmanned Aerial Vehicle In Search And Rescue

    OpenAIRE

    Hammerseth, Vegard B

    2013-01-01

    This report presents a way of using autonomous drones to enhance search and rescue operations and takes the first steps in bringing the system to life. By using autonomous drones, less experience is required by the rescue personnel and drone specialists become excessive in this matter. Due to autonomy a drone can operate outside a valid radio link. Hence, when signal is lost, the craft can continue to search, buffer the information and send it when the link becomes active. By creating afforda...

  17. Perinatal Gjb2 gene transfer rescues hearing in a mouse model of hereditary deafness.

    Science.gov (United States)

    Iizuka, Takashi; Kamiya, Kazusaku; Gotoh, Satoru; Sugitani, Yoshinobu; Suzuki, Masaaki; Noda, Tetsuo; Minowa, Osamu; Ikeda, Katsuhisa

    2015-07-01

    Hearing loss is the most widespread sensory disorder, with an incidence of congenital genetic deafness of 1 in 1600 children. For many ethnic populations, the most prevalent form of genetic deafness is caused by recessive mutations in the gene gap junction protein, beta 2, 26 kDa (GJB2), which is also known as connexin 26 (Cx26). Despite this knowledge, existing treatment strategies do not completely recover speech perception. Here we used a gene delivery system to rescue hearing in a mouse model of Gjb2 deletion. Mice lacking Cx26 are characterized by profound deafness from birth and improper development of cochlear cells. Cochlear delivery of Gjb2 using an adeno-associated virus significantly improved the auditory responses and development of the cochlear structure. Using gene replacement to restore hearing in a new mouse model of Gjb2-related deafness may lead to the development of therapies for human hereditary deafness.

  18. Synchrony dynamics during initiation, failure, and rescue of the segmentation clock.

    Science.gov (United States)

    Riedel-Kruse, Ingmar H; Müller, Claudia; Oates, Andrew C

    2007-09-28

    The "segmentation clock" is thought to coordinate sequential segmentation of the body axis in vertebrate embryos. This clock comprises a multicellular genetic network of synchronized oscillators, coupled by intercellular Delta-Notch signaling. How this synchrony is established and how its loss determines the position of segmentation defects in Delta and Notch mutants are unknown. We analyzed the clock's synchrony dynamics by varying strength and timing of Notch coupling in zebra-fish embryos with techniques for quantitative perturbation of gene function. We developed a physical theory based on coupled phase oscillators explaining the observed onset and rescue of segmentation defects, the clock's robustness against developmental noise, and a critical point beyond which synchrony decays. We conclude that synchrony among these genetic oscillators can be established by simultaneous initiation and self-organization and that the segmentation defect position is determined by the difference between coupling strength and noise.

  19. The interrelation between plus-hybrid effect on grain yield and genetic distance of studied hybrids

    Directory of Open Access Journals (Sweden)

    Božinović Sofija

    2010-01-01

    Full Text Available The combined effect of cytoplasmic male sterility and xenia is referred to as the Plus-Hybrid effect. A mixture of hybrids, in which one is a sterile female component and the other is a fertile pollinator, was sown. The objective of the present study was to determine whether the increase of a hybrid genetic distance would result in the increased gain from Plus-hybrid effects on grain yield. Two ZP hybrids (ZP 1 and ZP 2, i.e. their sterile and fertile counterparts, as well as, five hybrid pollinators (ZP 1, ZP 2, ZP 3, ZP 4 and ZP 5 were selected for the studies. The three-replicate trail was set up according to the randomized split-plot design at Zemun Polje in 2009. SSR markers were used to determine the genetic distance between hybrids. Ten out of total 12 applied primers gave results. Coefficients of similarity were estimated according to Dice and Jaccard. The greatest (0.37, i.e. smallest genetic distance (0.08, according to Dice, was obtained between hybrids ZP 1 and ZP 5, i.e. ZP 1 and ZP 4, respectively. Values of genetic distance according to Jaccard were between 0.14 (ZP 1 and ZP 4 and 0.54 (ZP 1 i ZP 5 . By using the cluster analysis, four hybrids (ZP 1, ZP 4, ZP 3 and ZP 2 were grouped into one sub-cluster that was loosely linked to ZP 5. The Plus-hybrid effect on grain yield of the hybrid ZP 1 was negative. The greatest gain was detected in the ZP 2st ' ZP 1 combination, between two hybrids that were genetically very similar and belonged to the same sub-cluster, and then in ZP 2st x ZP 3 and ZP 2st x ZP 4 combinations, between hybrids that also belonged to the same sub-cluster. It can be concluded that the Plus-hybrid effect, after all, depends not on the hybrid genetic distance but on the hybrid genotype.

  20. RESCUING THE ISCHEMIC PENUMBRA—OUR EXPIRIENCE

    Directory of Open Access Journals (Sweden)

    Milosavljevic Tamara

    2013-12-01

    Full Text Available Objectives: Over one million strokes per year are occurring in Europe. Brain stroke is one of the most important death and disability causes in Europe and USA. The main role of perfusion is to determine the border of insult core and ischemic penumbra. Penumbra can be saved with thrombolytic therapy but core have irreversible injuries and represent death of brain cells. Aim: to determine the role of CT brain perfusion in cases of acute brain stroke and following thrombolytic therapy. Methods: We examined 64 patients with acute brain stroke who received thrombolytic therapy after that. All patients were examining on 16 MDCTwith 50 ml of iodine contrast agent following the standard procedure for CT perfusion. Patients were 34 male and 30 female with middle age of 64 years. MRI was made after thrombolytic therapy and compare with perfusion results before therapy. Results: Using an artery and a vein as reference three parameters were measured — blood flow (CBF, blood volume (CBV and mean transit time (MTT, for each patient. Hemorrhagic was find in 9 (14.01% patients after thrombolytic therapy. 4 (6.25% other patients develop new stroke of same but mostly other side of brain. 8 (12.50% more patients finished lethally. From other 42 patientswith thrombolytic therapywe can positively say that in 31 (48.44% patients penumbrawas rescued. For other 11 (17.19% stroke was same size like firstly involved core and penumbra but not bigger. Conclusion: CT perfusion plays major role by showing a curable parts of tissue in brain strokes

  1. Rescuing the ischemic penumbra: Our experience

    Directory of Open Access Journals (Sweden)

    Milosavljević Tamara

    2013-12-01

    Full Text Available Objectives: Over one million strokes per year are occurring in Europe. Brain stroke is one of the most important death and disability causes in Europe and USA. The main role of perfusion is to determine the border of insult core and ischemic penumbra. Penumbra can be saved with thrombolytic therapy but core have irreversible injuries and represent death of brain cells. Aim: to determine the role of CT brain perfusion in cases of acute brain stroke and following thrombolytic therapy. Methods: We examined 64 patients with acute brain stroke who received thrombolytic therapy after that. All patients were examining on 16 MDCT with 50 ml of iodine contrast agent following the standard procedure for CT perfusion. Patients were 34 male and 30 female with middle age of 64 years. MRI was made after thrombolytic therapy and compare with perfusion results before therapy. Results: Using an artery and a vein as reference three parameters were measured - blood flow (CBF, blood volume (CBV and mean transit time (MTT, for each patient. Hemorrhagic was find in 9 (14.01% patients after thrombolytic therapy. 4 (6.25% other patients develop new stroke of same but mostly other side of brain. 8 (12.50% more patients finished lethally. From other 42 patients with thrombolytic therapy we can positively say that in 31 (48.44% patients penumbra was rescued. For other 11 (17.19% stroke was same size like firstly involved core and penumbra but not bigger. Conclusion: CT perfusion plays major role by showing a curable parts of tissue in brain strokes.

  2. Genetic Determinism in the Genetics Curriculum - An Exploratory Study of the Effects of Mendelian and Weldonian Emphases

    Science.gov (United States)

    Jamieson, Annie; Radick, Gregory

    2017-07-01

    Twenty-first-century biology rejects genetic determinism, yet an exaggerated view of the power of genes in the making of bodies and minds remains a problem. What accounts for such tenacity? This article reports an exploratory study suggesting that the common reliance on Mendelian examples and concepts at the start of teaching in basic genetics is an eliminable source of support for determinism. Undergraduate students who attended a standard `Mendelian approach' university course in introductory genetics on average showed no change in their determinist views about genes. By contrast, students who attended an alternative course which, inspired by the work of a critic of early Mendelism, W. F. R. Weldon (1860-1906), replaced an emphasis on Mendel's peas with an emphasis on developmental contexts and their role in bringing about phenotypic variability, were less determinist about genes by the end of teaching. Improvements in both the new Weldonian curriculum and the study design are in view for the future.

  3. Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy.

    Science.gov (United States)

    Shababi, Monir; Habibi, Javad; Ma, Lixin; Glascock, Jacqueline J; Sowers, James R; Lorson, Christian L

    2012-05-01

    Spinal muscular atrophy (SMA) is a leading genetic cause of infantile death. Loss of a gene called Survival Motor Neuron 1 (SMN1) and, as a result, reduced levels of the Survival Motor Neuron (SMN) protein leads to SMA development. SMA is characterized by the loss of functional motor neurons in the spinal cord. However, accumulating evidence suggests the contribution of other organs to the composite SMA phenotype and disease progression. A growing number of congenital heart defects have been identified in severe SMA patients. Consistent with the clinical cases, we have recently identified developmental and functional heart defects in two SMA mouse models, occurring at embryonic stage in a severe SMA model and shortly after birth in a less severe model (SMN∆7). Our goal was to examine the late stage cardiac abnormalities in untreated SMN∆7 mice and to determine whether gene replacement therapy restores cardiac structure/function in rescued SMN∆7 model. To reveal the extent of the cardiac structural/functional repair in the rescued mice, we analyzed the heart of untreated and treated SMN∆7 model using self-complementary Adeno-associated virus (serotype 9) expressing the full-length SMN cDNA. We examined the characteristics of the heart failure such as remodeling, fibrosis, oxidative stress, and vascular integrity in both groups. Our results clearly indicate that fibrosis, oxidative stress activation, vascular remodeling, and a significant decrease in the number of capillaries exist in the SMA heart. The cardiac structural defects were improved drastically in the rescued animals, however, the level of impairment was still significant compared to the age-matched wildtype littermates. Furthermore, functional analysis by in vivo cardiac magnetic resonance imaging (MRI) revealed that the heart of the treated SMA mice still exhibits functional defects. In conclusion, cardiac abnormalities are only partially rescued in post-birth treated SMA animals and these

  4. 30 CFR Appendix to Subpart B - Optional Form for Certifying Mine Rescue Teams

    Science.gov (United States)

    2010-07-01

    ... 30 Mineral Resources 1 2010-07-01 2010-07-01 false Optional Form for Certifying Mine Rescue Teams... EDUCATION AND TRAINING MINE RESCUE TEAMS Mine Rescue Teams for Underground Coal Mines Pt. 49, Subpt. B, App. Appendix to Subpart B—Optional Form for Certifying Mine Rescue Teams ER08FE08.000 ER08FE08.001...

  5. 78 FR 35974 - Proposed Information Collection; Comment Request; Coal Mine Rescue Teams; Arrangements for...

    Science.gov (United States)

    2013-06-14

    ... Safety and Health Administration Proposed Information Collection; Comment Request; Coal Mine Rescue Teams... protecting the safety and health of miners. 30 CFR Part 49, Mine Rescue Teams, Subpart B--Mine Rescue Teams for Underground Coal Mines, sets standards related to the availability of mine rescue teams;...

  6. Effects of traffic pollution on the genetic structure of Poa annua L.populations

    Institute of Scientific and Technical Information of China (English)

    LI Ning; CHEN Xiao-yong; SHEN Lang; LI Yuan-yuan; CAI Yue-wei

    2004-01-01

    The genetic composition of Poa annua L. populations with a series of traffic pollution was studied by starch electrophoresis. Five enzyme systems were stained. The results showed that: (1) Traffic pollution can dramatically change genotypic frequencies at some loci of P. annua populations. Significant deviations from Hardy-Weinberg equilibrium were observed on loci Fe-1 and Me due to the excess of heterozygote in some populations. (2) The effective number of alleles per locus, and the observed and expected heterozygosity were higher in the pollution series than in the clear control site(Botanic Park population), but the increase was not related with the pollution extent. (3) Most genetic variation was found within populations, and only 6.21% was among populations of the polluted series. Slightly higher differentiation(FST=7.98%) was observed when the control population was included. (4) The calculated gene flow(Nm) is 2.8841 per generation. The mean of genetic identity is 0.9864 and the genetic distance average to 0.0138.

  7. Mexican mestizo population sub-structure: effects on genetic and forensic statistical parameters.

    Science.gov (United States)

    Noris, Gino; Santana, Carla; Meraz-Ríos, Marco Antonio; de Lourdes Munoz, María; Majluf-Cruz, Abraham; Magaña, Jonathan J; Granados, Julio; Quezada, Rosa; Revilla, María Cristina; Martínez-Salas, Sergio; Xihuitl, Salvador; Martínez de la Escalera, Gonzalo; Díaz-Badillo, Alvaro; Calderon-Aranda, Emma S; Gómez, Rocío

    2012-12-01

    Since Mexican mestizos are an admixed population, it is necessary to determine the effects that the substructure of the population has on genetic and forensic parameters. With this aim, a study was performed with 15 STR loci (CODIS plus D2S1338 and D19S433) on 1,640 unrelated Mexican mestizos. We determine allele and genotypic frequencies observing departure from Hardy-Weinberg expectation (12 out of 15 loci, with an excess of homozygotes, Fis > 0), as well as pairs of loci in an apparent linkage disequilibrium (13 of 92 loci). We conducted a test for genetic population stratification, the results show that the Mexican mestizo population is substructured into three subgroups, which are in HW and linkage equilibrium. The combination of the 15 loci in the whole population has high forensic efficiency with the capacity to genetically discriminate one individual in one quintillion (1/10(18)). Our data potentially validates the use of these 15 STR loci to establish forensic identity and parentage testing for legal purposes, and offers a powerful tool for genetic variation analysis. However, given that the population is stratified, we highly recommend applying a correction with the inbreeding coefficient in calculations of paternity and forensic studies to avoid erroneous assumptions.

  8. Effects of Genetic Loci Associated with Central Obesity on Adipocyte Lipolysis.

    Science.gov (United States)

    Strawbridge, Rona J; Laumen, Helmut; Hamsten, Anders; Breier, Michaela; Grallert, Harald; Hauner, Hans; Arner, Peter; Dahlman, Ingrid

    2016-01-01

    Numerous genetic loci have been associated with measures of central fat accumulation, such as waist-to-hip ratio adjusted for body mass index (WHRadjBMI). However the mechanisms by which genetic variations influence obesity remain largely elusive. Lipolysis is a key process for regulation of lipid storage in adipocytes, thus is implicated in obesity and its metabolic complications. Here, genetic variants at 36 WHRadjBMI-associated loci were examined for their influence on abdominal subcutaneous adipocyte lipolysis. Fasting subcutaneous adipose tissue biopsies were collected from 789 volunteers (587 women and 202 men, body mass index (BMI) range 17.7-62.3 kg/m2). We quantified subcutaneous adipocyte lipolysis, both spontaneous and stimulated by the catecholamine isoprenaline or a cyclic AMP analogue. DNA was extracted from peripheral blood mononuclear cells and genotyping of SNPs associated with WHRadjBMI conducted. The effects on adipocyte lipolysis measures were assessed for SNPs individually and combined in a SNP score. The WHRadjBMI-associated loci CMIP, PLXND1, VEGFA and ZNRF3-KREMEN1 demonstrated nominal associations with spontaneous and/or stimulated lipolysis. Candidate genes in these loci have been reported to influence NFκB-signaling, fat cell size and Wnt signalling, all of which may influence lipolysis. This report provides evidence for specific WHRadjBMI-associated loci as candidates to modulate adipocyte lipolysis. Additionally, our data suggests that genetically increased central fat accumulation is unlikely to be a major cause of altered lipolysis in abdominal adipocytes.

  9. Sex change and effective population size: implications for population genetic studies in marine fish.

    Science.gov (United States)

    Coscia, I; Chopelet, J; Waples, R S; Mann, B Q; Mariani, S

    2016-10-01

    Large variance in reproductive success is the primary factor that reduces effective population size (Ne) in natural populations. In sequentially hermaphroditic (sex-changing) fish, the sex ratio is typically skewed and biased towards the 'first' sex, while reproductive success increases considerably after sex change. Therefore, sex-changing fish populations are theoretically expected to have lower Ne than gonochorists (separate sexes), assuming all other parameters are essentially equal. In this study, we estimate Ne from genetic data collected from two ecologically similar species living along the eastern coast of South Africa: one gonochoristic, the 'santer' sea bream Cheimerius nufar, and one protogynous (female-first) sex changer, the 'slinger' sea bream Chrysoblephus puniceus. For both species, no evidence of genetic structuring, nor significant variation in genetic diversity, was found in the study area. Estimates of contemporary Ne were significantly lower in the protogynous species, but the same pattern was not apparent over historical timescales. Overall, our results show that sequential hermaphroditism may affect Ne differently over varying time frames, and that demographic signatures inferred from genetic markers with different inheritance modes also need to be interpreted cautiously, in relation to sex-changing life histories.

  10. Dissection of Genetic Effects of Quantitative Trait Loci (QTL) in Transgenic Cotton

    Institute of Scientific and Technical Information of China (English)

    ZHANG Yong-shan

    2008-01-01

    @@ When alien DNA inserts into cotton genome in multi-copy manner,several QTL in cotton genome are disrupted,which are called dQTL in this study.Transgenic mutant line is near-isogenic to its recipient which is divergent for the dQTL from remaining QTL.So,a set of data from a transgenic QTL mutant line produced by Agrobacterium-mediated transformation,30074,its recipient,their F1 hybrids between them,and three elite lines were analyzed under a modified additive-dominance model with genotype by environment interactions in three different environments to dissect the genetic effects due to dQTL from the whole genome based genetic effects.

  11. Combined effects of antioxidant vitamin and NOS3 genetic polymorphisms on breast cancer risk in women.

    Science.gov (United States)

    Lee, Sang-Ah; Lee, Kyoung-Mu; Yoo, Keun-Young; Noh, Dong-Young; Ahn, Sei-Hyun; Kang, Daehee

    2012-02-01

    It is becoming increasingly clear that there is wide heterogeneity in genetic predisposition to breast cancer and that breast cancer risk is determined by interactive effect between genetic and environmental factors. We investigated the combined effects of antioxidant vitamin intake and NOS3 genetic polymorphisms on breast cancer risk in a Korean population (Seoul Breast Cancer Study). Histologically confirmed breast cancer cases (n = 512) and age, menopause status-matched controls (n = 512) with no present or previous history of cancer were recruited from several teaching hospitals in Seoul during 2001-2003. Two genetic polymorphisms of NOS3 (298G > T and -786 T > C) were assessed by single base extension assays. No overall association between the individual NOS3 genotypes or diplotypes and breast cancer risk was found, although the difference between cases and controls in the frequency of the NOS3 894 G > T polymorphism showed borderline significance (OR = 0.74, 95% CI = 0.52-1.06). There was no significant difference in energy intake or the intake of antioxidant vitamins between cases and controls, with the exception of vitamin E (OR = 0.49 lowest vs. highest quartile, P(trend) NOS3 -786 T > C or 894 G > T genetic polymorphisms on breast cancer risk. Although a multiplicative interaction was not observed, the protective effect of β-carotene intake on breast cancer risk was observed predominantly in individuals with the TG:TG diplotype of NOS3 (OR = 0.68) but not observed with others diplotype. An inverse association between vitamin E intake and breast cancer risk was observed for individuals with the NOS3 786 TC + TT genotype and the NOS3 894 GG genotype. In addition, folic acid had a protective effect in the NOS3 786 TT and NOS3 894 GT + TT genotype. Our results suggest that intake of antioxidant vitamins might modify the association between genetic polymorphisms of NOS3 and breast cancer risk. Copyright © 2011 Elsevier Ltd and

  12. Effects of Pharmacologic and Genetic Inhibition of Alk on Cognitive Impairments in NF1 Mutant Mice

    Science.gov (United States)

    2016-08-01

    behavioral and cognitive testing than originally anticipated. In addition, as a minimal number of mice was provided to us for breeding of the NF1 and Alk...AWARD NUMBER: W81XWH-13-1-0117 TITLE: Effects of Pharmacologic and Genetic Inhibition of Alk on Cognitive Impairments in NF1 Mutant Mice...including the time for reviewing instructions, searching existing data sources, gathering and maintaining the data needed, and completing and

  13. Can we build it better? Using BAC genetics to engineer more effective cytomegalovirus vaccines

    OpenAIRE

    Mark R. Schleiss

    2010-01-01

    The magnitude and durability of immunity to human cytomegalovirus (HCMV) following natural infection is compromised by the presence of immune modulation genes that appear to promote evasion of host clearance mechanisms. Since immunity to HCMV offers limited protection, rational design of effective vaccines has been challenging. In this issue of the JCI, Slavuljica and colleagues employ techniques to genetically modify the highly related mouse CMV (MCMV), in the process generating a virus that...

  14. Parental genetic effects in a cavefish adaptive behavior explain disparity between nuclear and mitochondrial DNA

    OpenAIRE

    2012-01-01

    Epigenetic parental genetic effects are important in many biological processes but their roles in the evolution of adaptive traits and their consequences in naturally evolving populations remain to be addressed. By comparing two divergent blind cave-dwelling cavefish populations with a sighted surface-dwelling population (surface fish) of the teleost Astyanax mexicanus, we report here that convergences in vibration attraction behavior (VAB), the lateral line sensory receptors underlying this ...

  15. An effective hybrid cuckoo search and genetic algorithm for constrained engineering design optimization

    Science.gov (United States)

    Kanagaraj, G.; Ponnambalam, S. G.; Jawahar, N.; Mukund Nilakantan, J.

    2014-10-01

    This article presents an effective hybrid cuckoo search and genetic algorithm (HCSGA) for solving engineering design optimization problems involving problem-specific constraints and mixed variables such as integer, discrete and continuous variables. The proposed algorithm, HCSGA, is first applied to 13 standard benchmark constrained optimization functions and subsequently used to solve three well-known design problems reported in the literature. The numerical results obtained by HCSGA show competitive performance with respect to recent algorithms for constrained design optimization problems.

  16. Methylation as an epigenetic source of random genetic effects in the classical twin design

    Directory of Open Access Journals (Sweden)

    Dolan CV

    2015-09-01

    Full Text Available Conor V Dolan,1,3 Michel G Nivard,1,3 Jenny van Dongen,1,3 Sophie van der Sluis,2 Dorret I Boomsma,1,3,41Department of Biological Psychology, Netherlands Twin Register, VU University Amsterdam, 2Section Complex Trait Genetics, Department of Clinical Genetics, VU Medical Center, 3EMGO+ Institute for Health and Care Research, VU University Medical Center, 4Neuroscience Campus Amsterdam, Amsterdam, the Netherlands Abstract: The epigenetic effects of cytosine methylation on gene expression are an acknowledged source of phenotypic variance. The discordant monozygotic (MZ twin design has been used to demonstrate the role of methylation in disease. Application of the classical twin design, featuring both monozygotic and dizygotic twins, has demonstrated that individual differences in methylation levels are attributable to genetic and environmental (including stochastic factors, with the latter explaining most of the variance. What implications epigenetic sources of variance have for the twin modeling of (non-epigenetic phenotypes such as height and IQ is an open question. One possibility is that epigenetic effects are absorbed by the variance component attributable to unshared environmental. Another possibility is that such effects form an independent source of variance distinguishable in principle from standard genetic and environmental sources. In the present paper, we conceptualized epigenetic processes as giving rise to randomness in the effects of polygenetic influences. This means that the regression coefficient in the regression of the phenotype on the polygenic factor, as specified in the twin model, varies over individuals. We investigate the consequences of ignoring this randomness in the standard twin model. Keywords: classical twin design, epigenetics, methylation, parameter randomness, heritability

  17. Effect of Genetic Database Comprehensiveness on Fractional Proteomics of Escherichia coli O157:H7

    Science.gov (United States)

    2014-01-01

    EFFECT OF GENETIC DATABASE COMPREHENSIVENESS ON FRACTIONAL PROTEOMICS OF ESCHERICHIA COLI O157:H7 ECBC-TR-1154...Database Comprehensiveness on Fractional Proteomics of Escherichia coli O157:H7 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c. PROGRAM ELEMENT NUMBER...are characterizing the extracellular, fimbriae, and whole cell proteins produced by the pathogenic Gram-negative bacterium Escherichia coli (E. coli

  18. Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

    OpenAIRE

    Zemojtel, T.; Koehler, S; Mackenroth, L; Jaeger, M.; Hecht, J.; Krawitz, P.; Graul-Neumann, L; Doelken, S.; Ehmke, N.; Spielmann, M.; Oien, N.C.; Schweiger, M R; Krueger, U; Frommer, G.; Fischer, B.

    2014-01-01

    Less than half of patients with suspected genetic disease receive a molecular diagnosis. We have therefore integrated next-generation sequencing (NGS), bioinformatics, and clinical data into an effective diagnostic workflow. We used variants in the 2741 established Mendelian disease genes [the disease-associated genome (DAG)] to develop a targeted enrichment DAG panel (7.1 Mb), which achieves a coverage of 20-fold or better for 98% of bases. Furthermore, we established a computational method ...

  19. Effect of auricular acupressure on stress reaction in conscious patients during emergency rescue in ICU%耳穴贴压对ICU患者紧急抢救时邻床清醒患者应激反应的影响

    Institute of Scientific and Technical Information of China (English)

    陈媛媛; 沈锐; 陈静; 杨雪莲

    2013-01-01

    Objective To investigate the effect of auricular acupressure on the stress reaction of conscious patients during emergency rescue in the intensive care unit(ICU).Methods Fifty conscious patients admitted to ICU were randomly divided into experiment group and control group,25 cases in each group.The two groups received conventional interventions,all separated by curtains during the rescue for psychological nursing by full-time nurses.Besides,the experiment group received auricular acupressure. The two groups were compared in terms of heart rates,systolic blood pressure,blood glucose,plasma catecholamines(epinephrine and norepinephrine)and cortisol index.Results All the items of stress reaction at minutes 30 and 60 in the experiment group were significantly lower than those in the control group.The rescue times of 30min,1H in experiment group,the stress index of experiment group at 30 mins and 60 mins were lower than those in the control group,the differences were statistically significant(all P<0�05)Conclusions Auricular acupressure is of good effects on physiological stress reaction in conscious patients during emergency rescue in ICU�%目的探讨耳穴贴压对重症监护病房(intensive care unit,ICU)患者紧急抢救时邻床清醒患者应激反应的影响。方法采用随机数字表法,将50例入住ICU的清醒患者分为试验组和对照组,每组各25例。抢救时两组患者均常规给予干预措施(所有邻床清醒患者用围帘隔开、专职护士进行心理护理),试验组在此基础上采用耳穴贴压。观察两组患者在抢救时即刻(0 min)、30 min、1 h心率、收缩压、血糖、血浆儿茶酚胺(肾上腺素、去甲肾上腺素)、皮质醇指标情况的差异。结果抢救时30 min、1 h试验组患者各项应激指标均低于对照组,两组比较,差异具有统计学意义(均P﹤0�05)。结论耳穴贴压对降低ICU患者紧急抢救时邻床清醒患者应激反应具有较好的效果。

  20. Modeling variation in early life mortality in the western lowland gorilla: Genetic, maternal and other effects.

    Science.gov (United States)

    Ahsan, Monica H; Blomquist, Gregory E

    2015-06-01

    Uncovering sources of variation in gorilla infant mortality informs conservation and life history research efforts. The international studbook for the western lowland gorilla provides information on a sample of captive gorillas large enough for which to analyze genetic, maternal, and various other effects on early life mortality in this critically endangered species. We assess the importance of variables such as sex, maternal parity, paternal age, and hand rearing with regard to infant survival. We also quantify the proportions of variation in mortality influenced by heritable variation and maternal effects from these pedigree and survival data using variance component estimation. Markov chain Monte Carlo simulations of generalized linear mixed models produce variance component distributions in an animal model framework that employs all pedigree information. Two models, one with a maternal identity component and one with both additive genetic and maternal identity components, estimate variance components for different age classes during the first 2 years of life. This is informative of the extent to which mortality risk factors change over time during gorilla infancy. Our results indicate that gorilla mortality is moderately heritable with the strongest genetic influence just after birth. Maternal effects are most important during the first 6 months of life. Interestingly, hand-reared infants have lower mortality for the first 6 months of life. Aside from hand rearing, we found other predictors commonly used in studies of primate infant mortality to have little influence in these gorilla data.