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Sample records for genetic evidence supports

  1. Genetic Evidence Supports the Multiethnic Character of Teopancazco, a Neighborhood Center of Teotihuacan, Mexico (AD 200-600)

    Science.gov (United States)

    Álvarez-Sandoval, Brenda A.; Manzanilla, Linda R.; González-Ruiz, Mercedes; Malgosa, Assumpció; Montiel, Rafael

    2015-01-01

    Multiethnicity in Teopancazco, Teotihuacan, is supported by foreign individuals found in the neighborhood center as well as by the diversity observed in funerary rituals at the site. Studies of both stable and strontium isotopes as well as paleodietary analysis, suggest that the population of Teopancazco was composed by three population groups: people from Teotihuacan, people from nearby sites (Tlaxcala-Hidalgo-Puebla), and people from afar, including the coastal plains. In an attempt to understand the genetic dynamics in Teopancazco we conducted an ancient DNA (aDNA) analysis based on mtDNA. Our results show that the level of genetic diversity is consistent with the multiethnicity phenomenon at the neighborhood center. Levels of genetic diversity at different time periods of Teopancazco’s history show that multiethnicity was evident since the beginning and lasted until the collapse of the neighborhood center. However, a PCA and a Neighbor-Joining tree suggested the presence of a genetically differentiated group (buried at the Transitional phase) compared to the population from the initial phase (Tlamimilolpa) as well as the population from the final phase (Xolalpan) of the history of Teopancazco. Genetic studies showed no differences in genetic diversity between males and females in the adult population of Teopancazco, this data along with ample archaeological evidence, suggest a neolocal post-marital pattern of residence in Teopancazco. Nevertheless, genetic analyses on the infant population showed that the males are significantly more heterogeneous than the females suggesting a possible differential role in cultural practices by sex in the infant sector. Regarding interpopulation analysis, we found similar indices of genetic diversity between Teopancazco and heterogeneous native groups, which support the multiethnic character of Teopancazco. Finally, our data showed a close genetic relationship between Teopancazco and populations from the

  2. Genetic Evidence Supports the Multiethnic Character of Teopancazco, a Neighborhood Center of Teotihuacan, Mexico (AD 200-600.

    Directory of Open Access Journals (Sweden)

    Brenda A Álvarez-Sandoval

    Full Text Available Multiethnicity in Teopancazco, Teotihuacan, is supported by foreign individuals found in the neighborhood center as well as by the diversity observed in funerary rituals at the site. Studies of both stable and strontium isotopes as well as paleodietary analysis, suggest that the population of Teopancazco was composed by three population groups: people from Teotihuacan, people from nearby sites (Tlaxcala-Hidalgo-Puebla, and people from afar, including the coastal plains. In an attempt to understand the genetic dynamics in Teopancazco we conducted an ancient DNA (aDNA analysis based on mtDNA. Our results show that the level of genetic diversity is consistent with the multiethnicity phenomenon at the neighborhood center. Levels of genetic diversity at different time periods of Teopancazco's history show that multiethnicity was evident since the beginning and lasted until the collapse of the neighborhood center. However, a PCA and a Neighbor-Joining tree suggested the presence of a genetically differentiated group (buried at the Transitional phase compared to the population from the initial phase (Tlamimilolpa as well as the population from the final phase (Xolalpan of the history of Teopancazco. Genetic studies showed no differences in genetic diversity between males and females in the adult population of Teopancazco, this data along with ample archaeological evidence, suggest a neolocal post-marital pattern of residence in Teopancazco. Nevertheless, genetic analyses on the infant population showed that the males are significantly more heterogeneous than the females suggesting a possible differential role in cultural practices by sex in the infant sector. Regarding interpopulation analysis, we found similar indices of genetic diversity between Teopancazco and heterogeneous native groups, which support the multiethnic character of Teopancazco. Finally, our data showed a close genetic relationship between Teopancazco and populations from the

  3. Genetic Evidence Supports the Multiethnic Character of Teopancazco, a Neighborhood Center of Teotihuacan, Mexico (AD 200-600).

    Science.gov (United States)

    Álvarez-Sandoval, Brenda A; Manzanilla, Linda R; González-Ruiz, Mercedes; Malgosa, Assumpció; Montiel, Rafael

    2015-01-01

    Multiethnicity in Teopancazco, Teotihuacan, is supported by foreign individuals found in the neighborhood center as well as by the diversity observed in funerary rituals at the site. Studies of both stable and strontium isotopes as well as paleodietary analysis, suggest that the population of Teopancazco was composed by three population groups: people from Teotihuacan, people from nearby sites (Tlaxcala-Hidalgo-Puebla), and people from afar, including the coastal plains. In an attempt to understand the genetic dynamics in Teopancazco we conducted an ancient DNA (aDNA) analysis based on mtDNA. Our results show that the level of genetic diversity is consistent with the multiethnicity phenomenon at the neighborhood center. Levels of genetic diversity at different time periods of Teopancazco's history show that multiethnicity was evident since the beginning and lasted until the collapse of the neighborhood center. However, a PCA and a Neighbor-Joining tree suggested the presence of a genetically differentiated group (buried at the Transitional phase) compared to the population from the initial phase (Tlamimilolpa) as well as the population from the final phase (Xolalpan) of the history of Teopancazco. Genetic studies showed no differences in genetic diversity between males and females in the adult population of Teopancazco, this data along with ample archaeological evidence, suggest a neolocal post-marital pattern of residence in Teopancazco. Nevertheless, genetic analyses on the infant population showed that the males are significantly more heterogeneous than the females suggesting a possible differential role in cultural practices by sex in the infant sector. Regarding interpopulation analysis, we found similar indices of genetic diversity between Teopancazco and heterogeneous native groups, which support the multiethnic character of Teopancazco. Finally, our data showed a close genetic relationship between Teopancazco and populations from the "Teotihuacan corridor

  4. The media and genetically modified foods: evidence in support of social amplification of risk.

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    Frewer, Lynn J; Miles, Susan; Marsh, Roy

    2002-08-01

    Empirical examinations of the "social amplification of risk" framework are rare, partly because of the difficulties in predicting when conditions likely to result in amplification effects will occur. This means that it is difficult to examine changes in risk perception that are contemporaneous with increases and/or decreases in social or media discussion of the risks associated with a particular risk event. However, the collection of attitude data before, during, and after the increased reporting of the risks of genetically modified food in the United Kingdom (spring 1999) has demonstrated that people's risk perceptions do increase and decrease in line with what might be expected upon examination of the amplification and attenuation mechanisms integral to the framework. Perceptions of benefit, however, appeared to be permanently depressed by negative reporting about genetically modified food. Trust in regulatory institutions with responsibility for protecting the public was not affected. It was concluded that the social amplification of risk framework is a useful framework for beginning to explain the potential impact on risk perceptions of a risk event, particularly if that risk event is presented to the public as a new hazard occurring in a crisis context.

  5. Genetic and Functional Evidence Supports LPAR1 as a Susceptibility Gene for Hypertension.

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    Xu, Ke; Ma, Lu; Li, Yang; Wang, Fang; Zheng, Gu-Yan; Sun, Zhijun; Jiang, Feng; Chen, Yundai; Liu, Huirong; Dang, Aimin; Chen, Xi; Chun, Jerold; Tian, Xiao-Li

    2015-09-01

    Essential hypertension is a complex disease affected by genetic and environmental factors and serves as a major risk factor for cardiovascular diseases. Serum lysophosphatidic acid correlates with an elevated blood pressure in rats, and lysophosphatidic acid interacts with 6 subtypes of receptors. In this study, we assessed the genetic association of lysophosphatidic acid receptors with essential hypertension by genotyping 28 single-nucleotide polymorphisms from genes encoding for lysophosphatidic acid receptors, LPAR1, LPAR2, LPAR3, LPAR4, LPAR5, and LPAR6 and their flanking sequences, in 3 Han Chinese cohorts consisting of 2630 patients and 3171 controls in total. We identified a single-nucleotide polymorphism, rs531003 in the 3'-flanking genomic region of LPAR1, associated with hypertension (the Bonferroni corrected P=1.09×10(-5), odds ratio [95% confidence interval]=1.23 [1.13-1.33]). The risk allele C of rs531003 is associated with the increased expression of LPAR1 and the susceptibility of hypertension, particularly in those with a shortage of sleep (P=4.73×10(-5), odds ratio [95% confidence interval]=1.75 [1.34-2.28]). We further demonstrated that blood pressure elevation caused by sleep deprivation and phenylephrine-induced vasoconstriction was both diminished in LPAR1-deficient mice. Together, we show that LPAR1 is a novel susceptibility gene for human essential hypertension and that stress, such as shortage of sleep, increases the susceptibility of patients with risk allele to essential hypertension.

  6. Evidence from case-control and longitudinal studies supports associations of genetic variation in APOE, CETP, and IL6 with human longevity.

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    Soerensen, Mette; Dato, Serena; Tan, Qihua; Thinggaard, Mikael; Kleindorp, Rabea; Beekman, Marian; Suchiman, H Eka D; Jacobsen, Rune; McGue, Matt; Stevnsner, Tinna; Bohr, Vilhelm A; de Craen, Anton J M; Westendorp, Rudi G J; Schreiber, Stefan; Slagboom, P Eline; Nebel, Almut; Vaupel, James W; Christensen, Kaare; Christiansen, Lene

    2013-04-01

    In this study, we investigated 102 single-nucleotide polymorphisms (SNPs) covering the common genetic variation in 16 genes recurrently regarded as candidates for human longevity: APOE; ACE; CETP; HFE; IL6; IL6R; MTHFR; TGFB1; APOA4; APOC3; SIRTs 1, 3, 6; and HSPAs 1A, 1L, 14. In a case-control study of 1,089 oldest-old (ages 92-93) and 736 middle-aged Danes, the minor allele frequency (MAF) of rs769449 (APOE) was significantly decreased in the oldest-old, while the MAF of rs9923854 (CETP) was significantly enriched. These effects were supported when investigating 1,613 oldest-old (ages 95-110) and 1,104 middle-aged Germans. rs769449 was in modest linkage equilibrium (R (2)=0.55) with rs429358 of the APOE-ε4 haplotype and adjusting for rs429358 eliminated the association of rs769449, indicating that the association likely reflects the well-known effect of rs429358. Gene-based analysis confirmed the effects of variation in APOE and CETP and furthermore pointed to HSPA14 as a longevity gene. In a longitudinal study with 11 years of follow-up on survival in the oldest-old Danes, only one SNP, rs2069827 (IL6), was borderline significantly associated with survival from age 92 (P-corrected=0.064). This advantageous effect of the minor allele was supported when investigating a Dutch longitudinal cohort (N=563) of oldest-old (age 85+). Since rs2069827 was located in a putative transcription factor binding site, quantitative RNA expression studies were conducted. However, no difference in IL6 expression was observed between rs2069827 genotype groups. In conclusion, we here support and expand the evidence suggesting that genetic variation in APOE, CETP, and IL6, and possible HSPA14, is associated with human longevity.

  7. Supportive evidence for FOXP1, BARX1, and FOXF1 as genetic risk loci for the development of esophageal adenocarcinoma

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    Becker, Jessica; May, Andrea; Gerges, Christian; Anders, Mario; Veits, Lothar; Weise, Katharina; Czamara, Darina; Lyros, Orestis; Manner, Hendrik; Terheggen, Grischa; Venerito, Marino; Noder, Tania; Mayershofer, Rupert; Hofer, Jan-Hinnerk; Karch, Hans-Werner; Ahlbrand, Constantin J; Arras, Michael; Hofer, Sebastian; Mangold, Elisabeth; Heilmann-Heimbach, Stefanie; Heinrichs, Sophie K M; Hess, Timo; Kiesslich, Ralf; Izbicki, Jakob R; Hölscher, Arnulf H; Bollschweiler, Elfriede; Malfertheiner, Peter; Lang, Hauke; Moehler, Markus; Lorenz, Dietmar; Müller-Myhsok, Bertram; Ott, Katja; Schmidt, Thomas; Whiteman, David C; Vaughan, Thomas L; Nöthen, Markus M; Hackelsberger, Andreas; Schumacher, Brigitte; Pech, Oliver; Vashist, Yogesh; Vieth, Michael; Weismüller, Josef; Neuhaus, Horst; Rösch, Thomas; Ell, Christian; Gockel, Ines; Schumacher, Johannes

    2015-01-01

    The Barrett’s and Esophageal Adenocarcinoma Consortium (BEACON) recently performed a genome-wide association study (GWAS) on esophageal adenocarcinoma (EAC) and Barrett’s esophagus. They identified genome-wide significant association for variants at three genes, namely CRTC1, FOXP1, and BARX1. Furthermore, they replicated an association at the FOXF1 gene that has been previously found in a GWAS on Barrett’s esophagus. We aimed at further replicating the association at these and other loci that showed suggestive association with P <  10−4 in the BEACON sample. In total, we tested 88 SNPs in an independent sample consisting of 1065 EAC cases and 1019 controls of German descent. We could replicate the association at FOXP1, BARX1, and FOXF1 with nominal significance and thereby confirm that genetic variants at these genes confer EAC risk. In addition, we found association of variants near the genes XRCC2 and GATA6 that were strongly (P < 10−5) although not genome-wide significantly associated with the BEACON GWAS. Therefore, both variants and corresponding genes represent promising candidates for future EAC association studies on independent samples. PMID:26383589

  8. Evidence for host genetic regulation of altered lipid metabolism in experimental toxoplasmosis supported with gene data mining results.

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    Milovanović, Ivan; Busarčević, Miloš; Trbovich, Alexander; Ivović, Vladimir; Uzelac, Aleksandra; Djurković-Djaković, Olgica

    2017-01-01

    Toxoplasma gondii is one of the most successful parasites on Earth, infecting a wide array of mammals including one third of the global human population. The obligate intracellular protozoon is not capable of synthesizing cholesterol (Chl), and thus depends on uptake of host Chl for its own development. To explore the genetic regulation of previously observed lipid metabolism alterations during acute murine T. gondii infection, we here assessed total Chl and its fractions in serum and selected tissues at the pathophysiological and molecular level, and integrated the observed gene expression of selected molecules relevant for Chl metabolism, including its biosynthetic and export KEGG pathways, with the results of published transcriptomes obtained in similar murine models of T. gondii infection. The serum lipid status as well as the transcript levels of relevant genes in the brain and the liver were assessed in experimental models of acute and chronic toxoplasmosis in wild-type mice. The results showed that acute infection was associated with a decrease in Chl content in both the liver and periphery (brain, peripheral lymphocytes), and a decrease in Chl reverse transport. In contrast, in chronic infection, a return to normal levels of Chl metabolism has been noted. These changes corresponded to the brain and liver gene expression results as well as to data obtained via mining. We propose that the observed changes in Chl metabolism are part of the host defense response. Further insight into the lipid metabolism in T. gondii infection may provide novel targets for therapeutic agents.

  9. Genetic influence on the expression of hand preferences in chimpanzees (Pan troglodytes): evidence in support of the right-shift theory and developmental instability.

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    Hopkins, W D; Dahl, J F; Pilcher, D

    2001-07-01

    Genetic mechanisms have been proposed to explain the pervasive representation of right-handedness in humans, whereas random, nongenetic factors have been posited to explain the lack of population-level right-handedness in nonhuman primates. We report evidence that hand preferences in chimpanzees are heritable, even among related individuals raised in different environments. Furthermore, we report that the degree of heritability is modified by factors associated with developmental instability, notably, offspring parity. The data are interpreted to reconcile both genetic models for handedness and hypotheses suggesting that developmental instability influences variation in handedness.

  10. Population genetics and evaluation of genetic evidence for subspecies in the Semipalmated Sandpiper (Calidris pusilla)

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    Miller, Mark P.; Gratto-Trevor, Cheri; Haig, Susan M.; Mizrahi, David S.; Mitchell, Melanie M.; Mullins, Thomas D.

    2013-01-01

    Semipalmated Sandpipers (Calidris pusilla) are among the most common North American shorebirds. Breeding in Arctic North America, this species displays regional differences in migratory pathways and possesses longitudinal bill length variation. Previous investigations suggested that genetic structure may occur within Semipalmated Sandpipers and that three subspecies corresponding to western, central, and eastern breeding groups exist. In this study, mitochondrial control region sequences and nuclear microsatellite loci were used to analyze DNA of birds (microsatellites: n = 120; mtDNA: n = 114) sampled from seven North American locations. Analyses designed to quantify genetic structure and diversity patterns, evaluate genetic evidence for population size changes, and determine if genetic data support the existence of Semipalmated Sandpiper subspecies were performed. Genetic structure based only on the mtDNA data was observed, whereas the microsatellite loci provided no evidence of genetic differentiation. Differentiation among locations and regions reflected allele frequency differences rather than separate phylogenetic groups, and similar levels of genetic diversity were noted. Combined, the two data sets provided no evidence to support the existence of subspecies and were not useful for determining migratory connectivity between breeding sites and wintering grounds. Birds from western and central groups displayed signatures of population expansions, whereas the eastern group was more consistent with a stable overall population. Results of this analysis suggest that the eastern group was the source of individuals that colonized the central and western regions currently utilized by Semipalmated Sandpipers.

  11. New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East.

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    Thomas, Mark G; Barnes, Ian; Weale, Michael E; Jones, Abigail L; Forster, Peter; Bradman, Neil; Pramstaller, Peter P

    2008-01-01

    The Alps are one of the most significant geographical barriers in Europe and several isolated Swiss and Italian valleys retain the distinctive Ladin and Romansch languages, alongside the modern majority of Italian and German languages. Linguistically, Ladin belongs to the Romance languages, but some studies on mitochondrial DNA (mtDNA) variation have suggested a major Middle Eastern component to their genealogical origin. Furthermore, an observed high degree of within-population diversity has been interpreted as reflecting long-standing differentiation from other European populations and the absence of a major bottleneck in Ladin population history. To explore these issues further, we examined Y chromosome and mtDNA variation in two samples of Ladin speakers, two samples of German speakers and one sample of metropolitan Italian speakers. Our results (1) indicate reduced diversity in the Ladin-speaking and isolated German-speaking populations when compared to a sample of metropolitan Italian speakers, (2) fail to identify haplotypes that are rare in other European populations that other researchers have identified, and (3) indicate different Middle Eastern components to Ladin ancestry in different localities. These new results, in combination with Bayesian estimation of demographic parameters of interest (population size, population growth rate, and Palaeolithic/Neolithic admixture proportions) and phylogeographic analysis, suggest that the Ladin groups under study are small genetically isolated populations (subject to strong genetic drift), having a predominantly European ancestry, and in one locality, may have a greater Palaeolithic component to that ancestry than their neighbours.

  12. Review: domestic animal forensic genetics - biological evidence, genetic markers, analytical approaches and challenges.

    Science.gov (United States)

    Kanthaswamy, S

    2015-10-01

    This review highlights the importance of domestic animal genetic evidence sources, genetic testing, markers and analytical approaches as well as the challenges this field is facing in view of the de facto 'gold standard' human DNA identification. Because of the genetic similarity between humans and domestic animals, genetic analysis of domestic animal hair, saliva, urine, blood and other biological material has generated vital investigative leads that have been admitted into a variety of court proceedings, including criminal and civil litigation. Information on validated short tandem repeat, single nucleotide polymorphism and mitochondrial DNA markers and public access to genetic databases for forensic DNA analysis is becoming readily available. Although the fundamental aspects of animal forensic genetic testing may be reliable and acceptable, animal forensic testing still lacks the standardized testing protocols that human genetic profiling requires, probably because of the absence of monetary support from government agencies and the difficulty in promoting cooperation among competing laboratories. Moreover, there is a lack in consensus about how to best present the results and expert opinion to comply with court standards and bear judicial scrutiny. This has been the single most persistent challenge ever since the earliest use of domestic animal forensic genetic testing in a criminal case in the mid-1990s. Crime laboratory accreditation ensures that genetic test results have the courts' confidence. Because accreditation requires significant commitments of effort, time and resources, the vast majority of animal forensic genetic laboratories are not accredited nor are their analysts certified forensic examiners. The relevance of domestic animal forensic genetics in the criminal justice system is undeniable. However, further improvements are needed in a wide range of supporting resources, including standardized quality assurance and control protocols for sample

  13. Decision support for health care: the PROforma evidence base

    Directory of Open Access Journals (Sweden)

    John Fox

    2006-03-01

    Full Text Available Cancer Research UK has developed PROforma, a formal language for modelling clinical processes, along with associated tools for creating decision support, care planning, clinical workflow management and other applications. The PROforma method has been evaluated in a variety of settings: in primary health care (prescribing, referral of suspected cancer patients, genetic risk assessment and in specialist care of patients with breast cancer, leukaemia, HIV infection and other conditions. About nine years of experience have been gained with PROforma technologies. Seven trials of decision support applications have been published or are in preparation. Each of these has shown significant positive effects on a variety of measures of quality and/or outcomes of care. This paper reviews the evidence base for the clinical effectiveness of these PROforma applications, and previews the CREDO project _a multi-centre trial of a complex PROforma application for supporting integrated breast cancer care across primary and secondary care settings.

  14. Forest genetic resources to support global bioeconomy

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    Saša Orlović

    2015-01-01

    Full Text Available A biobased economy implies sustainable and effective use of the biomass. This includes new products from forestry. The sustainable production, use, consumption and waste management of biomass all contribute to a bioeconomy (The European Bioeconomy in 2030. In the context of bioeconomy the conservation of forest genetic resources assumes a key significance in overcoming global challenges such as climate change. Forests are expected to play a key role in climate change mitigation, but they will only be able to fulfil that role if the trees themselves are able to survive and adapt to changing climate conditions. Genetic diversity provides the fundamental basis for the evolution of forest tree species and for their adaptation to change. The enormous range of goods and services provided by trees and forests is both a function of and testimony to the genetic variability contained within them.  Conserving forest  genetic  resources  is  therefore  vital, as  they  constitute  a  unique  and  irreplaceable resource for the future, including for sustainable economic growth and progress and environmental adaption (The State of the Worlds Forest Genetic Resources 2014.Previous research of population characteristics and the effects of natural and artificial selection on the genetic structure of populations contribute to the conservation and enhancement of the gene pool of the native tree species. The balance model of the population genetic structure reveals the new properties of the populations and requires further investigations, especially of the relations of subpopulations, half-sib families and organisms and the effect of variable factors of the environment, on the exchange of genetic material within natural and cultural populations.Being of national and international significance, these resources require intensive protection and enhancement in situ and ex situ. In this paper a general introduction is given to conservation of forest genetic

  15. Human Handedness: More Evidence for Genetic Involvement.

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    Longstreth, Langdon E.

    1980-01-01

    A series of environmental-genetical analyses of the left-handedness of 1,950 college students indicates that left-handedness is familial: it is more frequent in families in which at least one parent is left-handed. (Author/CM)

  16. Support Vector Machine Optimized by Improved Genetic Algorithm

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    Xiang Chang Sheng

    2013-07-01

    Full Text Available Parameters of support vector machines (SVM which is optimized by standard genetic algorithm is easy to trap into the local minimum, in order to get the optimal parameters of support vector machine, this paper proposed a parameters optimization method for support vector machines based on improved genetic algorithm, the simulation experiment is carried out on 5 benchmark datasets. The simulation show that the proposed method not only can assure the classification precision, but also can reduce training time markedly compared with standard genetic algorithm.

  17. Current evidence and insights about genetics in thoracic aorta disease.

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    Bisleri, Gianluigi; Bagozzi, Lorenzo; Muneretto, Claudio

    2013-01-01

    Thoracic aortic aneurysms have been historically considered to be caused by etiologic factors similar to those implied in abdominal aortic aneurysms. However, during the past decade, there has been increasing evidence that almost 20% of thoracic aortic aneurysms may be associated with a genetic disease, often within a syndromic or familial disorder. Moreover, the presence of congenital anomalies, such as bicuspid aortic valve, may have a unique common genetic underlying cause. Finally, also sporadic forms have been found to be potentially associated with genetic disorders, as highlighted by the analysis of rare variants and expression of specific microRNAs. We therefore sought to perform a comprehensive review of the role of genetic causes in the development of thoracic aortic aneurysms, by analyzing in detail the current evidence of genetic alterations in syndromes such as Marfan, Loeys-Dietz, and Ehler-Danlos, familial or sporadic forms, or forms associated with bicuspid aortic valve.

  18. Current Evidence and Insights about Genetics in Thoracic Aorta Disease

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    Gianluigi Bisleri

    2013-01-01

    Full Text Available Thoracic aortic aneurysms have been historically considered to be caused by etiologic factors similar to those implied in abdominal aortic aneurysms. However, during the past decade, there has been increasing evidence that almost 20% of thoracic aortic aneurysms may be associated with a genetic disease, often within a syndromic or familial disorder. Moreover, the presence of congenital anomalies, such as bicuspid aortic valve, may have a unique common genetic underlying cause. Finally, also sporadic forms have been found to be potentially associated with genetic disorders, as highlighted by the analysis of rare variants and expression of specific microRNAs. We therefore sought to perform a comprehensive review of the role of genetic causes in the development of thoracic aortic aneurysms, by analyzing in detail the current evidence of genetic alterations in syndromes such as Marfan, Loeys-Dietz, and Ehler-Danlos, familial or sporadic forms, or forms associated with bicuspid aortic valve.

  19. 22 CFR 511.9 - Supporting evidence.

    Science.gov (United States)

    2010-04-01

    ... disability, if any, the prognosis, and the period of hospitalization, or incapacitation. Itemized bills for medical, hospital, or burial expenses actually incurred should be attached to report. (b) In support of...

  20. Population genetics provides evidence for recombination in Giardia.

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    Cooper, Margarethe A; Adam, Rodney D; Worobey, Michael; Sterling, Charles R

    2007-11-20

    Giardia lamblia (syn. Giardia intestinalis, Giardia duodenalis) is an enteric protozoan parasite with two nuclei, and it might be one of the earliest branching eukaryotes. However, the discovery of at least rudimentary forms of certain features, such as Golgi and mitochondria, has refuted the proposal that its emergence from the eukaryotic lineage predated the development of certain eukaryotic features. The recent recognition of many of the genes known to be required for meiosis in the genome has also cast doubt on the idea that Giardia is primitively asexual, but so far there has been no direct evidence of sexual reproduction in Giardia, and population data have suggested clonal reproduction. We did a multilocus sequence evaluation of the genotype A2 reference strain, JH, and five genotype A2 isolates from a highly endemic area in Peru. Loci from different chromosomes yielded significantly different phylogenetic trees, indicating that they do not share the same evolutionary history; within individual loci, tests for recombination yielded significant statistical support for meiotic recombination. These observations provide genetic data supportive of sexual reproduction in Giardia.

  1. Genetic evidence of geographical groups among Neanderthals.

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    Virginie Fabre

    Full Text Available The Neanderthals are a well-distinguished Middle Pleistocene population which inhabited a vast geographical area extending from Europe to western Asia and the Middle East. Since the 1950s paleoanthropological studies have suggested variability in this group. Different sub-groups have been identified in western Europe, in southern Europe and in the Middle East. On the other hand, since 1997, research has been published in paleogenetics, carried out on 15 mtDNA sequences from 12 Neanderthals. In this paper we used a new methodology derived from different bioinformatic models based on data from genetics, demography and paleoanthropology. The adequacy of each model was measured by comparisons between simulated results (obtained by BayesianSSC software and those estimated from nucleotide sequences (obtained by DNAsp4 software. The conclusions of this study are consistent with existing paleoanthropological research and show that Neanderthals can be divided into at least three groups: one in western Europe, a second in the Southern area and a third in western Asia. Moreover, it seems from our results that the size of the Neanderthal population was not constant and that some migration occurred among the demes.

  2. NCBI genetic resources supporting immunogenetic research.

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    Feolo, M; Helmberg, W; Sherry, S; Maglott, D R

    2000-01-01

    The NCBI creates and maintains a set of integrated bibliographic, sequence, map, structure and other database resources to promote the efficient retrieval of information and the discovery of novel relationships. The connections made between elements of these resources permit researchers to start a search from a wide spectrum of entry points. These multiple dimensions of data can be roughly categorized by primary content as text or bibliographic (PubMed, PubMedCentral, OMIM, LocusLink), sequence (GenBank, Reference Sequence Project (RefSeq), dbSNP, MMDB), protein structure (MMDB) or map position (MapView). They can also becategorized by level of expert curation, which may range from validation of submissions from external groups (GenBank, PubMed, PubMedCentral,), to automatic computation (HomoloGene, UniGene), and to highly reviewed and corrected (LocusLink, MMDB, OMIM, RefSeq). Searches can be made by words (in an article title, key words, sequence annotation, database value, author) by sequence (BLAST or e-PCR against multiple sequence databases), or by map coordinates. By computing or curating bi-directional links between related objects, NCBI can represent content on the genetics, molecular biology, and clinical considerations of interest to immunogeneticists. There is also an emerging resource developed by the NCBI in collaboration with the IHWG devoted to the presentation of MHC data (dbMHC). How dbMHC will augment existing resources at the NCBI is described.

  3. Genetic evidence for hybrid trait speciation in heliconius butterflies.

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    Camilo Salazar

    2010-04-01

    Full Text Available Homoploid hybrid speciation is the formation of a new hybrid species without change in chromosome number. So far, there has been a lack of direct molecular evidence for hybridization generating novel traits directly involved in animal speciation. Heliconius butterflies exhibit bright aposematic color patterns that also act as cues in assortative mating. Heliconius heurippa has been proposed as a hybrid species, and its color pattern can be recreated by introgression of the H. m. melpomene red band into the genetic background of the yellow banded H. cydno cordula. This hybrid color pattern is also involved in mate choice and leads to reproductive isolation between H. heurippa and its close relatives. Here, we provide molecular evidence for adaptive introgression by sequencing genes across the Heliconius red band locus and comparing them to unlinked wing patterning genes in H. melpomene, H. cydno, and H. heurippa. 670 SNPs distributed among 29 unlinked coding genes (25,847bp showed H. heurippa was related to H. c. cordula or the three species were intermixed. In contrast, among 344 SNPs distributed among 13 genes in the red band region (18,629bp, most showed H. heurippa related with H. c. cordula, but a block of around 6,5kb located in the 3' of a putative kinesin gene grouped H. heurippa with H. m. melpomene, supporting the hybrid introgression hypothesis. Genealogical reconstruction showed that this introgression occurred after divergence of the parental species, perhaps around 0.43Mya. Expression of the kinesin gene is spatially restricted to the distal region of the forewing, suggesting a mechanism for pattern regulation. This gene therefore constitutes the first molecular evidence for adaptive introgression during hybrid speciation and is the first clear candidate for a Heliconius wing patterning locus.

  4. Genetic evidence for hybrid trait speciation in heliconius butterflies.

    Directory of Open Access Journals (Sweden)

    Camilo Salazar

    2010-04-01

    Full Text Available Homoploid hybrid speciation is the formation of a new hybrid species without change in chromosome number. So far, there has been a lack of direct molecular evidence for hybridization generating novel traits directly involved in animal speciation. Heliconius butterflies exhibit bright aposematic color patterns that also act as cues in assortative mating. Heliconius heurippa has been proposed as a hybrid species, and its color pattern can be recreated by introgression of the H. m. melpomene red band into the genetic background of the yellow banded H. cydno cordula. This hybrid color pattern is also involved in mate choice and leads to reproductive isolation between H. heurippa and its close relatives. Here, we provide molecular evidence for adaptive introgression by sequencing genes across the Heliconius red band locus and comparing them to unlinked wing patterning genes in H. melpomene, H. cydno, and H. heurippa. 670 SNPs distributed among 29 unlinked coding genes (25,847bp showed H. heurippa was related to H. c. cordula or the three species were intermixed. In contrast, among 344 SNPs distributed among 13 genes in the red band region (18,629bp, most showed H. heurippa related with H. c. cordula, but a block of around 6,5kb located in the 3' of a putative kinesin gene grouped H. heurippa with H. m. melpomene, supporting the hybrid introgression hypothesis. Genealogical reconstruction showed that this introgression occurred after divergence of the parental species, perhaps around 0.43Mya. Expression of the kinesin gene is spatially restricted to the distal region of the forewing, suggesting a mechanism for pattern regulation. This gene therefore constitutes the first molecular evidence for adaptive introgression during hybrid speciation and is the first clear candidate for a Heliconius wing patterning locus.

  5. Current Evidence and Insights about Genetics in Thoracic Aorta Disease

    OpenAIRE

    2013-01-01

    Thoracic aortic aneurysms have been historically considered to be caused by etiologic factors similar to those implied in abdominal aortic aneurysms. However, during the past decade, there has been increasing evidence that almost 20% of thoracic aortic aneurysms may be associated with a genetic disease, often within a syndromic or familial disorder. Moreover, the presence of congenital anomalies, such as bicuspid aortic valve, may have a unique common genetic underlying cause. Finally, also s...

  6. Current evidence supporting "letrozole" for ovulation induction

    Directory of Open Access Journals (Sweden)

    Sujata Kar

    2013-01-01

    Full Text Available Aromatase inhibitor "letrozole" was first introduced as a potential ovulation induction (OI drug almost a decade back. Large number of studies has been published using letrozole for OI: In polycystic ovary syndrome (PCOS women, clomiphene citrate (CC resistant women, for intrauterine insemination and also in various protocols of mild stimulation for in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI. Letrozole appears to be a good option, with its oral route of administration, cost, shorter half-life and negligible side effects. However, the verdict on efficacy and safety of letrozole is still uncertain. This review explores the current scientific data supporting letrozole for OI.

  7. Biochemical evidence supporting the Cortina criteria.

    Science.gov (United States)

    von Werder, K

    2005-01-01

    Whether acromegaly is inactive or active, respectively cured or not cured depends on the GH suppressibility and the basal IGF-I level. According to the Cortina criteria, GH suppression after oral ingestion of 75 g glucose to acromegaly. According to more recent publications, mortality, which is increased in active acromegaly, is normalized when GH and IGF-I levels have become normal as defined above. Morbidity, i.e. typical features of acromegaly like cardiac problems, carpal tunnel syndrome, carbohydrate intolerance, and excessive sweating may also improve though painful arthropathy, and coarse facial features usually remain unaltered even if the biochemistry has been completely normalized. Using more sensitive GH assays, a group of acromegalic patients was shown to have normal IGF-I levels after surgery, with post-glucose levels of GH 0.14 microg/l, which is the upper level of normal subjects and of a second group of successfully operated acromegalic patients. The latter group also had slightly lower IGF-I levels, though such levels were normal in both groups. Whether this may indicate that these patients who have higher GH levels after oral glucose measured with the more sensitive immunoradiometric assay (IRMA) will more likely develop recurrences remains to be demonstrated in a larger cohort. According to the criteria put forward in Cortina d'Ampezzo in February 1999, all patients who have post-glucose GH levels <1 microg/l and normal age-matched IGF-I levels have to be regarded as well controlled, i.e. sufficiently treated. Because of lack of evidence, there is at present no reason to change the consensus reached there.

  8. Interpreting genetics in the context of eating disorders: evidence of disease, not diversity.

    Science.gov (United States)

    Easter, Michele

    2014-07-01

    How is genetic involvement interpreted for disorders whose medicalisation is contested? Framing psychiatric and behavioural disorders in terms of genetics is expected to make them seem more medical. Yet a genetic aetiology can also be used to frame behaviour as acceptable human variation, rather than a medical problem (for example, sexual orientation). I analyse responses to the idea that there is a genetic component in anorexia and bulimia nervosa (AN or BN) via semi-structured interviews with a sample of 50 women diagnosed with an eating disorder (25 had recovered). All but three volunteered that genetics would medicalise AN or BN by (i) making eating disorders seem more like 'real diseases'; implying that these disorders need (ii) professional treatment or (iii) a biologically based treatment. The results also indicate there are several counter-logics by which genetic framing could support non-medical definitions of AN or BN. I argue that genetic framing reduces perceived individual responsibility, which can support definitions of behaviour as either a reflection of disease (which entails intervention) or a reflection of normal human diversity (which does not). In the context of public scepticism as to the 'reality' of AN or BN, genetic involvement was taken as evidence of disease in ongoing negotiations about the medical and moral status of people with eating disorders.

  9. Are claims made in orthodontic journal advertisements evidence-supported?

    NARCIS (Netherlands)

    Livas, Christos; Kouskoura, Thaleia; Ren, Yijin; Katsaros, Christos; Pandis, Nikolaos

    2015-01-01

    Objective: To examine the supporting evidence of advertisements published in six leading orthodontic journals. Materials and Methods: The 2012-2013 printed issues of American Journal of Orthodontics and Dentofacial Orthopedics, Australian Orthodontic Journal, Journal of Orthodontics, European Journa

  10. Are claims made in orthodontic journal advertisements evidence-supported?

    NARCIS (Netherlands)

    Livas, Christos; Kouskoura, Thaleia; Ren, Yijin; Katsaros, Christos; Pandis, Nikolaos

    Objective: To examine the supporting evidence of advertisements published in six leading orthodontic journals. Materials and Methods: The 2012-2013 printed issues of American Journal of Orthodontics and Dentofacial Orthopedics, Australian Orthodontic Journal, Journal of Orthodontics, European

  11. Diagnosis support using Fuzzy Cognitive Maps combined with Genetic Algorithms.

    Science.gov (United States)

    Georgopoulos, Voula C; Stylios, Chrysotomos D

    2009-01-01

    A new hybrid modeling methodology to support medical diagnosis decisions is developed here. It extends previous work on Competitive Fuzzy Cognitive Maps for Medical Diagnosis Support Systems by complementing them with Genetic Algorithms Methods for concept interaction. The synergy of these methodologies is accomplished by a new proposed algorithm that leads to more dependable Advanced Medical Diagnosis Support Systems that are suitable to handle situations where the decisions are not clearly distinct. The technique developed here is applied successfully to model and test a differential diagnosis problem from the speech pathology area for the diagnosis of language impairments.

  12. Scientific Evidence on the Supportive Cancer Care with Chinese Medicine

    Directory of Open Access Journals (Sweden)

    William CS CHO

    2010-03-01

    Full Text Available Complementary and alternative medicine has been increasingly utilized by cancer patients in developed countries. Among the various forms of complementary and alternative medicine, Traditional Chinese Medicine is one of the few that has a well constructed theoretical framework and established treatment approaches for diseases including cancer. Recent research has revealed growing evidence suggesting that Traditional Chinese Medicine is effective in the supportive care of cancer patients during and after major conventional cancer treatments. This paper succinctly summarizes some published clinical evidence and meta-analyses which support the usage of various Traditional Chinese Medicine treatment strategies including Chinese herbal medicine, acupuncture and Qigong in supportive cancer care.

  13. The genetics of insomnia--evidence for epigenetic mechanisms?

    Science.gov (United States)

    Palagini, Laura; Biber, Knut; Riemann, Dieter

    2014-06-01

    Sleep is a complex physiological process and still remains one of the great mysteries of science. Over the past 10 y, genetic research has provided a new avenue to address the regulation and function of sleep. Gene loci that contribute quantitatively to sleep characteristics and variability have already been identified. However, up to now, a genetic basis has been established only for a few sleep disorders. Little is yet known about the genetic background of insomnia, one of the most common sleep disorders. According to the conceptualisation of the 3P model of insomnia, predisposing, precipitating and perpetuating factors contribute to the development and maintenance of insomnia. Growing evidence from studies of predisposing factors suggests a certain degree of heritability for insomnia and for a reactivity of sleep patterns to stressful events, explaining the emergence of insomnia in response to stressful life events. While a genetic susceptibility may modulate the impact of stress on the brain, this finding does not provide us with a complete understanding of the capacity of stress to produce long-lasting perturbations of brain and behaviour. Epigenetic gene-environment interactions have been identified just recently and may provide a more complex understanding of the genetic control of sleep and its disorders. It was recently hypothesised that stress-response-related brain plasticity might be epigenetically controlled and, moreover, several epigenetic mechanisms have been assumed to be involved in the regulation of sleep. Hence, it might be postulated that insomnia may be influenced by an epigenetic control process of both sleep mechanisms and stress-response-related gene-environment interactions having an impact on brain plasticity. This paper reviews the evidence for the genetic basis of insomnia and recent theories about epigenetic mechanisms involved in both sleep regulation and brain-stress response, leading to the hypothesis of an involvement of epigenetic

  14. Organisational support for evidence-based practice: occupational therapists perceptions.

    Science.gov (United States)

    Bennett, Sally; Allen, Shelley; Caldwell, Elizabeth; Whitehead, Mary; Turpin, Merrill; Fleming, Jennifer; Cox, Ruth

    2016-02-01

    Barriers to the use of evidence-based practice extend beyond the individual clinician and often include organisational barriers. Adoption of systematic organisational support for evidence-based practice in health care is integral to its use. This study aimed to explore the perceptions of occupational therapy staff regarding the influence of organisational initiatives to support evidence-based practice on workplace culture and clinical practice. This study used semi-structured interviews with 30 occupational therapists working in a major metropolitan hospital in Brisbane, Australia regarding their perceptions of organisational initiatives designed to support evidence-based practice. Four themes emerged from the data: (i) firmly embedding a culture valuing research and EBP, (ii) aligning professional identity with the Research and Evidence in Practice model, (iii) experiences of change: pride, confidence and pressure and (iv) making evidence-based changes to clinical practices. Organisational initiatives for evidence-based practice were perceived as influencing the culture of the workplace, therapists' sense of identity as clinicians, and as contributing to changes in clinical practice. It is therefore important to consider organisational factors when attempting to increase the use of evidence in practice. © 2016 Occupational Therapy Australia.

  15. Evidence for Absolute Moral Opposition to Genetically Modified Food in the United States.

    Science.gov (United States)

    Scott, Sydney E; Inbar, Yoel; Rozin, Paul

    2016-05-01

    Public opposition to genetic modification (GM) technology in the food domain is widespread (Frewer et al., 2013). In a survey of U.S. residents representative of the population on gender, age, and income, 64% opposed GM, and 71% of GM opponents (45% of the entire sample) were "absolutely" opposed-that is, they agreed that GM should be prohibited no matter the risks and benefits. "Absolutist" opponents were more disgust sensitive in general and more disgusted by the consumption of genetically modified food than were non-absolutist opponents or supporters. Furthermore, disgust predicted support for legal restrictions on genetically modified foods, even after controlling for explicit risk-benefit assessments. This research suggests that many opponents are evidence insensitive and will not be influenced by arguments about risks and benefits. © The Author(s) 2016.

  16. Evidence of weak genetic structure and recent gene flow between Bactrocera dorsalis s.s. and B. papayae, across Southern Thailand and West Malaysia, supporting a single target pest for SIT applications.

    Science.gov (United States)

    Aketarawong, Nidchaya; Isasawin, Siriwan; Thanaphum, Sujinda

    2014-06-14

    Bactrocera dorsalis s.s. (Hendel) and B. papayae Drew & Hancock, are invasive pests belonging to the B. dorsalis complex. Their species status, based on morphology, is sometimes arguable. Consequently, the existence of cryptic species and/or population isolation may decrease the effectiveness of the sterile insect technique (SIT) due to an unknown degree of sexual isolation between released sterile flies and wild counterparts. To evaluate the genetic relationship and current demography in wild populations for guiding the application of area-wide integrated pest management using SIT, seven microsatellite-derived markers from B. dorsalis s.s. and another five from B. papayae were used for surveying intra- and inter-specific variation, population structure, and recent migration among sympatric and allopatric populations of the two morphological forms across Southern Thailand and West Malaysia. Basic genetic variations were not significantly different among forms, populations, and geographical areas (P > 0.05). Nonetheless, two sets of microsatellite markers showed significantly different levels of polymorphisms. Genetic differentiation between intra- and inter-specific differences was significant, but low. Seventeen populations revealed three hypothetical genetic clusters (K = 3) regardless of forms and geographical areas. The genetic structure of sympatric populations slightly changed during the different years of collection. Recent gene flow (m ≥ 0.10) was frequently detected whether samples were sympatric or allopatric. Ninety-five of 379 individuals distributed across the given area were designated as recent migrants or of admixed ancestry. As a consequence of substantial migration, no significant correlation between genetic and geographic distances was detected (R2 = 0.056, P = 0.650). According to the 12 microsatellite variations, weak population structure and recent gene flow suggest that there is no status for cryptic species between B. dorsalis s.s. and B

  17. Evidence of Common Genetic Overlap Between Schizophrenia and Cognition.

    Science.gov (United States)

    Hubbard, Leon; Tansey, Katherine E; Rai, Dheeraj; Jones, Peter; Ripke, Stephan; Chambert, Kimberly D; Moran, Jennifer L; McCarroll, Steven A; Linden, David E J; Owen, Michael J; O'Donovan, Michael C; Walters, James T R; Zammit, Stanley

    2016-05-01

    Cognitive impairment is a core feature of schizophrenia but there is limited understanding of the genetic relationship between cognition in the general population and schizophrenia. We examine how common variants associated with schizophreniaen massecontribute to childhood cognitive ability in a population-based sample, and the extent to which common genetic variants associated with childhood cognition explain variation in schizophrenia. Schizophrenia polygenic risk scores were derived from the Psychiatric Genomics Consortium (n= 69 516) and tested for association with IQ, attention, processing speed, working memory, problem solving, and social cognition in over 5000 children aged 8 from the Avon Longitudinal Study of Parents and Children birth cohort. Polygenic scores for these cognitive domains were tested for association with schizophrenia in a large UK schizophrenia sample (n= 11 853). Bivariate genome-wide complex trait analysis (GCTA) estimated the amount of shared genetic factors between schizophrenia and cognitive domains. Schizophrenia polygenic risk score was associated with lower performance IQ (P= .001) and lower full IQ (P= .013). Polygenic score for performance IQ was associated with increased risk for schizophrenia (P= 3.56E-04). Bivariate GCTA revealed moderate genetic correlation between schizophrenia and both performance IQ (rG= -.379,P= 6.62E-05) and full IQ (rG= -.202,P= 5.00E-03), with approximately 14% of the genetic component of schizophrenia shared with that for performance IQ. Our results support the presence of shared common genetic factors between schizophrenia and childhood cognitive ability. We observe a genetic relationship between schizophrenia and performance IQ but not verbal IQ or other cognitive variables, which may have implications for studies utilizing cognitive endophenotypes for psychosis.

  18. Molecular genetic evidence for polyandry in Ascaris suum.

    Science.gov (United States)

    Zhou, Chunhua; Yuan, Keng; Tang, Xiaoli; Hu, Ningyan; Peng, Weidong

    2011-03-01

    The aim of this study was to determine whether single Ascaris suum female could mate with multiple males. Seven sex-linked microsatellite markers were employed and paternal genetic analyses were conducted. Totally, 62 offspring individuals from three single females were screened, and the numbers of fathers in each family were determined using allele counting methods and the program GERUD, version 2.0. The seven sex-linked microsatellite loci showed high polymorphism and revealed that one out of three families (allele counts) and two out of three families (GERUD) of the sampled families had at least two sires (2-6), indicating that females of A. suum can mate with multiple males. These findings provide the first molecular genetic evidence for polyandry of female A. suum and lay a foundation for further studies on the impacts of polyandry on population genetic parameters, the parasite population's genetic diversity, the potential for infection of different host species, and for the rate of spread of drug resistance.

  19. 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.

  20. Smoking and Body Weight: Evidence using Genetic Instruments

    Science.gov (United States)

    Wehby, George; Murray, Jeffrey C.; Wilcox, Allen; Lie, Rolv T.

    2011-01-01

    Several studies have evaluated whether the high and rising obesity rates over the past three decades may be due to the declining smoking rates. There is mixed evidence across studies – some find negative smoking effects and positive cigarette cost effects on body weight, while others find opposite effects. This study applies a unique approach to identify the smoking effects on body weight and to evaluate the heterogeneity in these effects across the body mass index (BMI) distribution by utilizing genetic instruments for smoking. Using a data sample of 1,057 mothers from Norway, the study finds heterogeneous effects of cigarette smoking on BMI – smoking increases BMI at low/moderate BMI levels and decreases BMI at high BMI levels. The study highlights the potential advantages and challenges of employing genetic instrumental variables to identify behavior effects including the importance of qualifying the instruments and the need for large samples. PMID:22024417

  1. Haldane's Rule: Genetic Bases and Their Empirical Support.

    Science.gov (United States)

    Delph, Lynda F; Demuth, Jeffery P

    2016-09-01

    There are few patterns in evolution that are as rigidly held as Haldane's rule (HR), which states, "When in the first generation between hybrids between 2 species, 1 sex is absent, rare, or sterile, that sex is always the heterogametic sex." Yet despite considerable attention for almost a century, questions persist as to how many independent examples exist and what is (are) the underlying genetic cause(s). Here, we review recent evidence extending HR to plants, where previously it has only been documented in animals. We also discuss recent comparative analyses that show much more variation in sex-chromosome composition than previously recognized, thus increasing the number of potential independent origins of HR dramatically. Finally, we review the standing of genetic theories proposed to explain HR in light of the new examples and new molecular understanding.

  2. Evidence for mitochondrial genetic control of autosomal gene expression.

    Science.gov (United States)

    Kassam, Irfahan; Qi, Tuan; Lloyd-Jones, Luke; Holloway, Alexander; Jan Bonder, Marc; Henders, Anjali K; Martin, Nicholas G; Powell, Joseph E; Franke, Lude; Montgomery, Grant W; Visscher, Peter M; McRae, Allan F

    2016-10-18

    The mitochondrial and nuclear genomes coordinate and co-evolve in eukaryotes in order to adapt to environmental changes. Variation in the mitochondrial genome is capable of affecting expression of genes on the nuclear genome. Sex-specific mitochondrial genetic control of gene expression has been demonstrated in Drosophila melanogaster, where males were found to drive most of the total variation in gene expression. This has potential implications for male-related health and disease resulting from variation in mtDNA solely inherited from the mother. We used a family-based study comprised of 47,323 gene expression probes and 78 mitochondrial SNPs (mtSNPs) from n = 846 individuals to examine the extent of mitochondrial genetic control of gene expression in humans. This identified 15 significant probe-mtSNP associations (P[Formula: see text]) corresponding to 5 unique genes on the mitochondrial and nuclear genomes, with three of these genes corresponding to mitochondrial genetic control of gene expression in the nuclear genome. The associated mtSNPs for three genes (one cis and two trans associations) were replicated (P expression in any of these five probes. Sex-specific effects were examined by applying our analysis to males and females separately and testing for differences in effect size. The MEST gene was identified as having the most significantly different effect sizes across the sexes (P [Formula: see text]). MEST was similarly expressed in males and females with the G allele; however, males with the C allele are highly expressed for MEST, while females show no expression of the gene. This study provides evidence for the mitochondrial genetic control of expression of several genes in humans, with little evidence found for sex-specific effects.

  3. Genetic evidence for patrilocal mating behavior among Neandertal groups

    DEFF Research Database (Denmark)

    Lalueza-Fox, Carles; Rosas, Antonio; Estalrrich, Almudena

    2011-01-01

    individuals stem from three different maternal lineages, accounting for seven, four, and one individual(s), respectively. Using a Y-chromosome assay to confirm the morphological determination of sex for each individual, we found that, although the three adult males carried the same mtDNA lineage, each...... of the three adult females carried different mtDNA lineages. These findings provide evidence to indicate that Neandertal groups not only were small and characterized by low genetic diversity but also were likely to have practiced patrilocal mating behavior....

  4. ADDIS: A decision support system for evidence-based medicine

    NARCIS (Netherlands)

    G. van Valkenhoef (Gert); T. Tervonen (Tommi); T. Zwinkels (Tijs); B. de Brock (Bert); H.L. Hillege (Hans)

    2013-01-01

    textabstractClinical trials are the main source of information for the efficacy and safety evaluation of medical treatments. Although they are of pivotal importance in evidence-based medicine, there is a lack of usable information systems providing data-analysis and decision support capabilities for

  5. Are claims made in orthodontic journal advertisements evidence-supported?

    OpenAIRE

    Livas, Christos; Kouskoura, Thaleia; Ren, Yijin; Katsaros, Christos; Pandis, Nikolaos

    2015-01-01

    OBJECTIVE To examine the supporting evidence of advertisements published in six leading orthodontic journals. MATERIALS AND METHODS The 2012-2013 printed issues of American Journal of Orthodontics and Dentofacial Orthopedics, Australian Orthodontic Journal, Journal of Orthodontics, European Journal of Orthodontics, Journal of Clinical Orthodontics, and Journal of Orofacial Orthopedics were screened for advertisements implying superior performance compared with competitor products....

  6. ADDIS: A decision support system for evidence-based medicine

    NARCIS (Netherlands)

    G. van Valkenhoef (Gert); T. Tervonen (Tommi); T. Zwinkels (Tijs); B. de Brock (Bert); H.L. Hillege (Hans)

    2013-01-01

    textabstractClinical trials are the main source of information for the efficacy and safety evaluation of medical treatments. Although they are of pivotal importance in evidence-based medicine, there is a lack of usable information systems providing data-analysis and decision support capabilities for

  7. Evidence of two genetic clusters of manatees with low genetic diversity in Mexico and implications for their conservation

    Science.gov (United States)

    Nourisson, Coralie; Morales-Vela, Benjamin; Padilla-Saldivar, Janneth; Tucker, Kimberly Pause; Clark, Ann Marie; Olivera-Gomez, Leon David; Bonde, Robert; McGuire, Peter

    2011-01-01

    The Antillean manatee (Trichechus manatus manatus) occupies the tropical coastal waters of the Greater Antilles and Caribbean, extending from Mexico along Central and South America to Brazil. Historically, manatees were abundant in Mexico, but hunting during the pre-Columbian period, the Spanish colonization and throughout the history of Mexico, has resulted in the significantly reduced population occupying Mexico today. The genetic structure, using microsatellites, shows the presence of two populations in Mexico: the Gulf of Mexico (GMx) and Chetumal Bay (ChB) on the Caribbean coast, with a zone of admixture in between. Both populations show low genetic diversity (GMx: NA = 2.69; HE = 0.41 and ChB: NA = 3.0; HE = 0.46). The lower genetic diversity found in the GMx, the largest manatee population in Mexico, is probably due to a combination of a founder effect, as this is the northern range of the sub-species of T. m. manatus, and a bottleneck event. The greater genetic diversity observed along the Caribbean coast, which also has the smallest estimated number of individuals, is possibly due to manatees that come from the GMx and Belize. There is evidence to support limited or unidirectional gene flow between these two important areas. The analyses presented here also suggest minimal evidence of a handful of individual migrants possibly between Florida and Mexico. To address management issues we suggest considering two distinct genetic populations in Mexico, one along the Caribbean coast and one in the riverine systems connected to the GMx.

  8. Evidence of two genetic clusters of manatees with low genetic diversity in Mexico and implications for their conservation.

    Science.gov (United States)

    Nourisson, Coralie; Morales-Vela, Benjamín; Padilla-Saldívar, Janneth; Tucker, Kimberly Pause; Clark, Annmarie; Olivera-Gómez, Leon David; Bonde, Robert; McGuire, Peter

    2011-07-01

    The Antillean manatee (Trichechus manatus manatus) occupies the tropical coastal waters of the Greater Antilles and Caribbean, extending from Mexico along Central and South America to Brazil. Historically, manatees were abundant in Mexico, but hunting during the pre-Columbian period, the Spanish colonization and throughout the history of Mexico, has resulted in the significantly reduced population occupying Mexico today. The genetic structure, using microsatellites, shows the presence of two populations in Mexico: the Gulf of Mexico (GMx) and Chetumal Bay (ChB) on the Caribbean coast, with a zone of admixture in between. Both populations show low genetic diversity (GMx: N(A) = 2.69; H(E) = 0.41 and ChB: N(A) = 3.0; H(E) = 0.46). The lower genetic diversity found in the GMx, the largest manatee population in Mexico, is probably due to a combination of a founder effect, as this is the northern range of the sub-species of T. m. manatus, and a bottleneck event. The greater genetic diversity observed along the Caribbean coast, which also has the smallest estimated number of individuals, is possibly due to manatees that come from the GMx and Belize. There is evidence to support limited or unidirectional gene flow between these two important areas. The analyses presented here also suggest minimal evidence of a handful of individual migrants possibly between Florida and Mexico. To address management issues we suggest considering two distinct genetic populations in Mexico, one along the Caribbean coast and one in the riverine systems connected to the GMx.

  9. NICU nurse educators: what evidence supports your teaching strategies?

    Science.gov (United States)

    Pilcher, Jobeth

    2013-01-01

    One of our roles as nurse educators is to teach best practices related to patient care. However, have you ever stopped to think about what evidence supports your teaching strategies? Just as our patients deserve care that is based on the best available evidence, our learners also deserve education that is based on evidence.1-3 With so many advances in knowledge, technology, and even life itself, it is interesting that education has changed very little over the past 100 years. A study among 946 nurse educators documented that most teach the way they were taught.4 In addition, even after learning new strategies, educators often continue teaching in the manner they are most comfortable. However, this trend is beginning to change. Nurse educators are becoming increasingly aware of and willing to try new and innovative teaching strategies. Educators are also seeking out evidence-based teaching strategies and are becoming more involved in nursing education research.

  10. Genetic Basis of Sjögren's Syndrome. How Strong is the Evidence?

    Directory of Open Access Journals (Sweden)

    Juan-Manuel Anaya

    2006-01-01

    Full Text Available Sjögren's syndrome (SS is a late-onset chronic autoimmune disease (AID affecting the exocrine glands, mainly the salivary and lachrymal. Genetic studies on twins with primary SS have not been performed, and only a few case reports describing twins have been published. The prevalence of primary SS in siblings has been estimated to be 0.09% while the reported general prevalence of the disease is approximately 0.1%. The observed aggregation of AIDs in families of patients with primary SS is nevertheless supportive for a genetic component in its etiology. In the absence of chromosomal regions identified by linkage studies, research has focused on candidate gene approaches (by biological plausibility rather than on positional approaches. Ancestral haplotype 8.1 as well as TNF, IL10 and SSA1 loci have been consistently associated with the disease although they are not specific for SS. In this review, the genetic component of SS is discussed on the basis of three known observations: (a age at onset and sex-dependent presentation, (b familial clustering of the disease, and (c dissection of the genetic component. Since there is no strong evidence for a specific genetic component in SS, a large international and collaborative study would be suitable to assess the genetics of this disorder.

  11. Population expansions shared among coexisting bacterial lineages are revealed by genetic evidence.

    Science.gov (United States)

    Avitia, Morena; Escalante, Ana E; Rebollar, Eria A; Moreno-Letelier, Alejandra; Eguiarte, Luis E; Souza, Valeria

    2014-01-01

    Comparative population studies can help elucidate the influence of historical events upon current patterns of biodiversity among taxa that coexist in a given geographic area. In particular, comparative assessments derived from population genetics and coalescent theory have been used to investigate population dynamics of bacterial pathogens in order to understand disease epidemics. In contrast, and despite the ecological relevance of non-host associated and naturally occurring bacteria, there is little understanding of the processes determining their diversity. Here we analyzed the patterns of genetic diversity in coexisting populations of three genera of bacteria (Bacillus, Exiguobacterium, and Pseudomonas) that are abundant in the aquatic systems of the Cuatro Cienegas Basin, Mexico. We tested the hypothesis that a common habitat leaves a signature upon the genetic variation present in bacterial populations, independent of phylogenetic relationships. We used multilocus markers to assess genetic diversity and (1) performed comparative phylogenetic analyses, (2) described the genetic structure of bacterial populations, (3) calculated descriptive parameters of genetic diversity, (4) performed neutrality tests, and (5) conducted coalescent-based historical reconstructions. Our results show a trend of synchronic expansions across most populations independent of both lineage and sampling site. Thus, we provide empirical evidence supporting the analysis of coexisting bacterial lineages in natural environments to advance our understanding of bacterial evolution beyond medical or health-related microbes.

  12. Genetic evidence linking lung cancer and COPD: a new perspective

    Directory of Open Access Journals (Sweden)

    Crapo JD

    2011-07-01

    Full Text Available Robert P Young1,4, Raewyn J Hopkins1, Gregory D Gamble1, Carol Etzel2, Randa El-Zein2, James D Crapo31Department of Medicine and School of Biological Sciences, University of Auckland, Auckland, New Zealand; 2Department of Epidemiology, UT MD Anderson Cancer Center, Houston, TX, USA; 3National Jewish Health, Denver, CO, USA; 4Synergenz Biosciences Ltd, Auckland, New ZealandAbstract: Epidemiological studies indicate that tobacco smoke exposure accounts for nearly 90% of cases of chronic obstructive pulmonary disease (COPD and lung cancer. However, genetic factors may explain why 10%–30% of smokers develop these complications. This perspective reviews the evidence suggesting that COPD is closely linked to susceptibility to lung cancer and outlines the potential relevance of this observation. Epidemiological studies show that COPD is the single most important risk factor for lung cancer among smokers and predates lung cancer in up to 80% of cases. Genome-wide association studies of lung cancer, lung function, and COPD have identified a number of overlapping “susceptibility” loci. With stringent phenotyping, it has recently been shown that several of these overlapping loci are independently associated with both COPD and lung cancer. These loci implicate genes underlying pulmonary inflammation and apoptotic processes mediated by the bronchial epithelium, and link COPD with lung cancer at a molecular genetic level. It is currently possible to derive risk models for lung cancer that incorporate lung cancer-specific genetic variants, recently identified “COPD-related” genetic variants, and clinical variables. Early studies suggest that single nucleotide polymorphism-based risk stratification of smokers might help better target novel prevention and early diagnostic strategies in lung cancer.Keywords: lung cancer, chronic obstructive pulmonary disease, association study, single nucleotide polymorphism, risk model

  13. Genetic evidence for monogamy in the dwarf seahorse, Hippocampus zosterae.

    Science.gov (United States)

    Rose, Emily; Small, Clayton M; Saucedo, Hector A; Harper, Cristin; Jones, Adam G

    2014-01-01

    Syngnathid fishes (pipefishes, seahorses, and seadragons) exhibit a wide array of mating systems ranging from monogamy with long-term pair bonds to more promiscuous mating systems, such as polyandry and polygynandry. Some seahorses, including the dwarf seahorse Hippocampus zosterae, have been found to be socially monogamous. Although several seahorse species have also been shown to be genetically monogamous, parentage analysis has not yet been applied to the dwarf seahorse. We developed 8 novel microsatellites for the dwarf seahorse to conduct genetic parentage analysis to confirm that this species is indeed monogamous. Using 4 selected loci and a total of 16 pregnant male seahorses, with 8 collected in Florida and 8 sampled in Texas, we genotyped all of the offspring within each male's brood to determine the maternal contributions to each brood. We found a maximum of 4 alleles per locus segregating within each pregnant male's brood, a pattern consistent with each brood having exactly 1 mother and 1 father. These results support previous laboratory-based behavioral studies and indicate that the dwarf seahorse, H. zosterae, is genetically monogamous.

  14. Support Vector Machine Ensemble Based on Genetic Algorithm

    Institute of Scientific and Technical Information of China (English)

    LI Ye; YIN Ru-po; CAI Yun-ze; XU Xiao-ming

    2006-01-01

    Support vector machines (SVMs) have been introduced as effective methods for solving classification problems.However, due to some limitations in practical applications,their generalization performance is sometimes far from the expected level. Therefore, it is meaningful to study SVM ensemble learning. In this paper, a novel genetic algorithm based ensemble learning method, namely Direct Genetic Ensemble (DGE), is proposed. DGE adopts the predictive accuracy of ensemble as the fitness function and searches a good ensemble from the ensemble space. In essence, DGE is also a selective ensemble learning method because the base classifiers of the ensemble are selected according to the solution of genetic algorithm. In comparison with other ensemble learning methods, DGE works on a higher level and is more direct. Different strategies of constructing diverse base classifiers can be utilized in DGE.Experimental results show that SVM ensembles constructed by DGE can achieve better performance than single SVMs,bagged and boosted SVM ensembles. In addition, some valuable conclusions are obtained.

  15. Autosomal STRs provide genetic evidence for the hypothesis that Tai people originate from southern China.

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    Hao Sun

    Full Text Available Tai people are widely distributed in Thailand, Laos and southwestern China and are a large population of Southeast Asia. Although most anthropologists and historians agree that modern Tai people are from southwestern China and northern Thailand, the place from which they historically migrated remains controversial. Three popular hypotheses have been proposed: northern origin hypothesis, southern origin hypothesis or an indigenous origin. We compared the genetic relationships between the Tai in China and their "siblings" to test different hypotheses by analyzing 10 autosomal microsatellites. The genetic data of 916 samples from 19 populations were analyzed in this survey. The autosomal STR data from 15 of the 19 populations came from our previous study (Lin et al., 2010. 194 samples from four additional populations were genotyped in this study: Han (Yunnan, Dai (Dehong, Dai (Yuxi and Mongolian. The results of genetic distance comparisons, genetic structure analyses and admixture analyses all indicate that populations from northern origin hypothesis have large genetic distances and are clearly differentiated from the Tai. The simulation-based ABC analysis also indicates this. The posterior probability of the northern origin hypothesis is just 0.04 [95%CI: (0.01-0.06]. Conversely, genetic relationships were very close between the Tai and populations from southern origin or an indigenous origin hypothesis. Simulation-based ABC analyses were also used to distinguish the southern origin hypothesis from the indigenous origin hypothesis. The results indicate that the posterior probability of the southern origin hypothesis [0.640, 95%CI: (0.524-0.757] is greater than that of the indigenous origin hypothesis [0.324, 95%CI: (0.211-0.438]. Therefore, we propose that the genetic evidence does not support the hypothesis of northern origin. Our genetic data indicate that the southern origin hypothesis has higher probability than the other two hypotheses

  16. Trichloroethylene: Mechanistic, Epidemiologic and Other Supporting Evidence of Carcinogenic Hazard

    Science.gov (United States)

    Rusyn, Ivan; Chiu, Weihsueh A.; Lash, Lawrence H.; Kromhout, Hans; Hansen, Johnni; Guyton, Kathryn Z.

    2013-01-01

    The chlorinated solvent trichloroethylene (TCE) is a ubiquitous environmental pollutant. The carcinogenic hazard of TCE was the subject of a 2012 evaluation by a Working Group of the International Agency for Research on Cancer (IARC). Information on exposures, relevant data from epidemiologic studies, bioassays in experimental animals, and toxicity and mechanism of action studies was used to conclude that TCE is carcinogenic to humans (Group 1). This article summarizes the key evidence forming the scientific bases for the IARC classification. Exposure to TCE from environmental sources (including from hazardous waste sites and contaminated water) is common throughout the world. While workplace use of TCE has been declining, occupational exposures remain of concern, especially in developing countries. Strongest human evidence is from studies of occupational TCE exposure and kidney cancer. Positive, although less consistent, associations were reported for liver cancer and non-Hodgkin's lymphoma. TCE is carcinogenic at multiple sites in multiple species and strains of experimental animals. The mechanistic evidence includes extensive data on the toxicokinetics and genotoxicity of TCE and its metabolites. Together, available evidence provided a cohesive database supporting the human cancer hazard of TCE, particularly in the kidney. For other target sites of carcinogenicity, mechanistic and other data were found to be more limited. Important sources of susceptibility to TCE toxicity and carcinogenicity were also reviewed by the Working Group. In all, consideration of the multiple evidence streams presented herein informed the IARC conclusions regarding the carcinogenicity of TCE. PMID:23973663

  17. Trichloroethylene: Mechanistic, epidemiologic and other supporting evidence of carcinogenic hazard.

    Science.gov (United States)

    Rusyn, Ivan; Chiu, Weihsueh A; Lash, Lawrence H; Kromhout, Hans; Hansen, Johnni; Guyton, Kathryn Z

    2014-01-01

    The chlorinated solvent trichloroethylene (TCE) is a ubiquitous environmental pollutant. The carcinogenic hazard of TCE was the subject of a 2012 evaluation by a Working Group of the International Agency for Research on Cancer (IARC). Information on exposures, relevant data from epidemiologic studies, bioassays in experimental animals, and toxicity and mechanism of action studies was used to conclude that TCE is carcinogenic to humans (Group 1). This article summarizes the key evidence forming the scientific bases for the IARC classification. Exposure to TCE from environmental sources (including hazardous waste sites and contaminated water) is common throughout the world. While workplace use of TCE has been declining, occupational exposures remain of concern, especially in developing countries. The strongest human evidence is from studies of occupational TCE exposure and kidney cancer. Positive, although less consistent, associations were reported for liver cancer and non-Hodgkin lymphoma. TCE is carcinogenic at multiple sites in multiple species and strains of experimental animals. The mechanistic evidence includes extensive data on the toxicokinetics and genotoxicity of TCE and its metabolites. Together, available evidence provided a cohesive database supporting the human cancer hazard of TCE, particularly in the kidney. For other target sites of carcinogenicity, mechanistic and other data were found to be more limited. Important sources of susceptibility to TCE toxicity and carcinogenicity were also reviewed by the Working Group. In all, consideration of the multiple evidence streams presented herein informed the IARC conclusions regarding the carcinogenicity of TCE.

  18. Support Vector Regression and Genetic Algorithm for HVAC Optimal Operation

    Directory of Open Access Journals (Sweden)

    Ching-Wei Chen

    2016-01-01

    Full Text Available This study covers records of various parameters affecting the power consumption of air-conditioning systems. Using the Support Vector Machine (SVM, the chiller power consumption model, secondary chilled water pump power consumption model, air handling unit fan power consumption model, and air handling unit load model were established. In addition, it was found that R2 of the models all reached 0.998, and the training time was far shorter than that of the neural network. Through genetic programming, a combination of operating parameters with the least power consumption of air conditioning operation was searched. Moreover, the air handling unit load in line with the air conditioning cooling load was predicted. The experimental results show that for the combination of operating parameters with the least power consumption in line with the cooling load obtained through genetic algorithm search, the power consumption of the air conditioning systems under said combination of operating parameters was reduced by 22% compared to the fixed operating parameters, thus indicating significant energy efficiency.

  19. Comorbidity Among Dimensions of Childhood Psychopathology: Converging Evidence from Behavior Genetics.

    Science.gov (United States)

    Rhee, Soo Hyun; Lahey, Benjamin B; Waldman, Irwin D

    2015-03-01

    In this article, we review evidence from recent behavior genetic studies that examined the covariance among common childhood psychopathological conditions and tested specific hypotheses regarding common and broadband-specific underlying features of childhood psychopathology. Specifically, we review the distinction between internalizing and externalizing disorders, the support for the generalist genes and specialist environments model, negative emotionality as a heritable underlying feature common to both internalizing and externalizing disorders, and daring as a heritable broadband-specific underlying feature that distinguishes externalizing disorders from internalizing disorders. We also discuss the implications of research in the search for specific genes that influence childhood psychopathology and suggest avenues for new research.

  20. Application of Modified Genetic Algorithm to Optimal Design of Supporting Structure

    Institute of Scientific and Technical Information of China (English)

    ZHOU Rui-zhong; PAN Shi-wei

    2003-01-01

    The modified genetic algorithm was used for the optimal design of supporting structure in deep pits.Based on the common genetic algorithm, using niche technique and reserving the optimum individual the modified genetic algorithm was presented. By means of the practical engineering, the modified genetic algorithm not only has more expedient convergence, but also can enhance security and operation efficiency.

  1. Evidence for the multiple hits genetic theory for inherited language impairment: a case study

    Directory of Open Access Journals (Sweden)

    Tracy M Centanni

    2015-08-01

    Full Text Available Communication disorders have complex genetic origins, with constellations of relevant gene markers that vary across individuals. Some genetic variants are present in healthy individuals as well as those affected by developmental disorders. Growing evidence suggests that some variants may increase susceptibility to these disorders in the presence of other pathogenic gene mutations. In the current study, we describe eight children with specific language impairment and four of these children had a copy number variant in one of these potential susceptibility regions on chromosome 15. Three of these four children also had variants in other genes previously associated with language impairment. Our data support the theory that 15q11.2 is a susceptibility region for developmental disorders, specifically language impairment.

  2. Are claims made in orthodontic journal advertisements evidence-supported?

    Science.gov (United States)

    Livas, Christos; Kouskoura, Thaleia; Ren, Yijin; Katsaros, Christos; Pandis, Nikolaos

    2015-03-01

    To examine the supporting evidence of advertisements published in six leading orthodontic journals. The 2012-2013 printed issues of American Journal of Orthodontics and Dentofacial Orthopedics, Australian Orthodontic Journal, Journal of Orthodontics, European Journal of Orthodontics, Journal of Clinical Orthodontics, and Journal of Orofacial Orthopedics were screened for advertisements implying superior performance compared with competitor products. Advertisements were classified according to type of product, availability, and currency of supporting references. A total of 99 unique advertisements claiming clinical benefit or superiority were identified. The overwhelming majority of the identified advertisements promoted appliance products (62.6%), orthodontic materials (14.1%), and dental operatory equipment, including imaging systems (12.1%). Advertisements were found to provide references or not regardless of the product type. Half of the advertisements referred to at least one peer-reviewed publication, whereas unpublished studies were cited by 25% of the advertisements. Most of the referenced articles were published within the past 5 years. The scientific background of advertisements in the orthodontic literature appears limited. While surveillance of journal advertising needs to be regulated, clinicians are urged to critically appraise the claims being made in orthodontic print advertisements by consulting the associated existing evidence.

  3. Evidence for genetic association of RORB with bipolar disorder

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    Mick Eric

    2009-11-01

    Full Text Available Abstract Background Bipolar disorder, particularly in children, is characterized by rapid cycling and switching, making circadian clock genes plausible molecular underpinnings for bipolar disorder. We previously reported work establishing mice lacking the clock gene D-box binding protein (DBP as a stress-reactive genetic animal model of bipolar disorder. Microarray studies revealed that expression of two closely related clock genes, RAR-related orphan receptors alpha (RORA and beta (RORB, was altered in these mice. These retinoid-related receptors are involved in a number of pathways including neurogenesis, stress response, and modulation of circadian rhythms. Here we report association studies between bipolar disorder and single-nucleotide polymorphisms (SNPs in RORA and RORB. Methods We genotyped 355 RORA and RORB SNPs in a pediatric cohort consisting of a family-based sample of 153 trios and an independent, non-overlapping case-control sample of 152 cases and 140 controls. Bipolar disorder in children and adolescents is characterized by increased stress reactivity and frequent episodes of shorter duration; thus our cohort provides a potentially enriched sample for identifying genes involved in cycling and switching. Results We report that four intronic RORB SNPs showed positive associations with the pediatric bipolar phenotype that survived Bonferroni correction for multiple comparisons in the case-control sample. Three RORB haplotype blocks implicating an additional 11 SNPs were also associated with the disease in the case-control sample. However, these significant associations were not replicated in the sample of trios. There was no evidence for association between pediatric bipolar disorder and any RORA SNPs or haplotype blocks after multiple-test correction. In addition, we found no strong evidence for association between the age-at-onset of bipolar disorder with any RORA or RORB SNPs. Conclusion Our findings suggest that clock genes in

  4. The necrophagous fly anthrax transmission pathway: empirical and genetic evidence from wildlife epizootics.

    Science.gov (United States)

    Blackburn, Jason K; Van Ert, Matthew; Mullins, Jocelyn C; Hadfield, Ted L; Hugh-Jones, Martin E

    2014-08-01

    Early studies confirmed Bacillus anthracis in emesis and feces of flies under laboratory conditions, but there is little empirical field evidence supporting the roles of flies in anthrax transmission. We collected samples during outbreaks of anthrax affecting livestock and native and exotic wildlife on two ranches in West Texas (2009-2010). Sampling included animal carcasses, maggots, adult flies feeding on or within several meters of carcasses, and leaves from surrounding vegetation. Microbiology and PCR were used to detect B. anthracis in the samples. Viable B. anthracis and/or PCR-positive results were obtained from all represented sample types. Genetic analysis of B. anthracis samples using multilocus variable number tandem repeat analysis (MLVA) confirmed that each ranch represented a distinct genetic lineage. Within each ranch, we detected the same genotype of B. anthracis from carcasses, maggots, and adult flies. The results of this study provide evidence supporting a transmission cycle in which blowflies contaminate vegetation near carcasses that may then infect additional browsing animals during anthrax outbreaks in the shrubland environment of West Texas.

  5. The new polio eradication end game: rationale and supporting evidence.

    Science.gov (United States)

    Sutter, Roland W; Platt, Lauren; Mach, Ondrej; Jafari, Hamid; Aylward, R Bruce

    2014-11-01

    Polio eradication requires the removal of all polioviruses from human populations, whether wild poliovirus or those emanating from the oral poliovirus vaccine (OPV). The Polio Eradication & Endgame Strategic Plan 2013-2018 provides a framework for interruption of wild poliovirus transmission in remaining endemic foci and lays out a plan for the new polio end game, which includes the withdrawal of Sabin strains, starting with type 2, and the introduction of inactivated poliovirus vaccine, for risk mitigation purposes. This report summarizes the rationale and evidence that supports the policy decision to switch from trivalent OPV to bivalent OPV and to introduce 1 dose of inactivated poliovirus vaccine into routine immunization schedules, and it describes the proposed implementation of this policy in countries using trivalent OPV.

  6. Developing research competence to support evidence-based practice.

    Science.gov (United States)

    Burke, Lora E; Schlenk, Elizabeth A; Sereika, Susan M; Cohen, Susan M; Happ, Mary Beth; Dorman, Janice S

    2005-01-01

    This article describes one step in the process that was undertaken to prepare for the introduction of evidence-based practice (EBP) into the curriculum across the Bachelor of Science in Nursing, Master of Science in Nursing, and Doctor of Philosophy programs, as well as the programs that were under development, Clinical Nurse Leader and Doctor of Nursing Practice, at the University of Pittsburgh School of Nursing. Expected research competencies were identified for each level or academic year within each program. Based on these competencies, recommendations on how to modify the curriculum into one that would support students' acquisition and development of the skills necessary to be successful in matriculating through an EBP curriculum were developed. Evaluation mechanisms for the achievement of these competencies vary across the academic programs and will include performance on capstone projects, comprehensive examinations, and program milestones for doctoral students. The establishment of evidence-based competencies provided a foundation for the development of new teaching approaches and the curricular revisions across the three academic programs. Thus, the University of Pittsburgh model of educating for EBP is based on a sequential layering of research competencies throughout the curriculum.

  7. Genetic Evidence for Male and Female Dispersal in Wild Lemur catta.

    Science.gov (United States)

    Parga, Joyce A; Sauther, Michelle L; Cuozzo, Frank P; Youssouf Jacky, Ibrahim Antho; Gould, Lisa; Sussman, Robert W; Lawler, Richard R; Pastorini, Jennifer

    2015-01-01

    Lemur catta has traditionally been considered a species with male-biased dispersal; however, occasional female dispersal occurs. Using molecular data, we evaluated dispersal patterns in 2 L. catta populations in southwestern Madagascar: Tsimanampesotse National Park (TNP) and Bezà Mahafaly Special Reserve (BMSR). We also investigated the genetic differentiation between the populations and dispersal partner relatedness. Results showed minor genetic differentiation between the populations (ϴ(ST) = 0.039), which may indicate gene flow historically occurring in this region, made possible by the presence of L. catta groups between the sites. Different patterns of sex-biased dispersal were found between the sites using corrected assignment indices: male-biased dispersal in TNP, and a lack of sex-biased dispersal in BMSR. Observational evidence of female dispersal in BMSR supports these results and may imply intense female resource competition in and around BMSR, because small groups of 2-3 females have been observed dispersing within BMSR and entering the reserve from outside. These dispersing groups largely consisted of mothers transferring with daughters, although we have an aunt-niece pair transferring together. Genetic data suggest that males also transfer with relatives. Our data demonstrate that dispersal partners consist of same-sexed kin for L. catta males and females, highlighting the importance of kin selection. © 2015 S. Karger AG, Basel.

  8. Bringing together linguistic and genetic evidence to test the Bantu expansion.

    Science.gov (United States)

    de Filippo, Cesare; Bostoen, Koen; Stoneking, Mark; Pakendorf, Brigitte

    2012-08-22

    The expansion of Bantu languages represents one of the most momentous events in the history of Africa. While it is well accepted that Bantu languages spread from their homeland (Cameroon/Nigeria) approximately 5000 years ago (ya), there is no consensus about the timing and geographical routes underlying this expansion. Two main models of Bantu expansion have been suggested: The 'early-split' model claims that the most recent ancestor of Eastern languages expanded north of the rainforest towards the Great Lakes region approximately 4000 ya, while the 'late-split' model proposes that Eastern languages diversified from Western languages south of the rainforest approximately 2000 ya. Furthermore, it is unclear whether the language dispersal was coupled with the movement of people, raising the question of language shift versus demic diffusion. We use a novel approach taking into account both the spatial and temporal predictions of the two models and formally test these predictions with linguistic and genetic data. Our results show evidence for a demic diffusion in the genetic data, which is confirmed by the correlations between genetic and linguistic distances. While there is little support for the early-split model, the late-split model shows a relatively good fit to the data. Our analyses demonstrate that subsequent contact among languages/populations strongly affected the signal of the initial migration via isolation by distance.

  9. Restricted Gene Flow among Lineages of Thrips tabaci Supports Genetic Divergence Among Cryptic Species Groups

    Science.gov (United States)

    Jacobson, Alana L.; Nault, Brian A.; Vargo, Edward L.; Kennedy, George G.

    2016-01-01

    Knowledge of the relative influence of population- versus species-level genetic variation is important to understand patterns of phenotypic variation and ecological relationships that exist among and within morphologically indistinguishable cryptic species and subspecies. In the case of cryptic species groups that are pests, such knowledge is also essential for devising effective population management strategies. The globally important crop pest Thrips tabaci is a taxonomically difficult group of putatively cryptic species. This study examines population genetic structure of T. tabaci and reproductive isolation among lineages of this species complex using microsatellite markers and mitochondrial COI sequences. Overall, genetic structure supports T. tabaci as a cryptic species complex, although limited interbreeding occurs between different clonal groups from the same lineage as well as between individuals from different lineages. These results also provide evidence that thelytoky and arrhenotoky are not fixed phenotypes among members of different T. tabaci lineages that have been generally associated with either reproductive mode. Possible biological and ecological factors contributing to these observations are discussed. PMID:27690317

  10. The Neolithic transition in Europe: archaeological models and genetic evidence

    Directory of Open Access Journals (Sweden)

    Martin Richards

    2003-01-01

    Full Text Available The major pattern in the European gene pool is a southeast-northwest frequency gradient of classic genetic markers such as blood groups, which population geneticists initially attributed to the demographic impact of Neolithic farmers dispersing from the Near East. Molecular genetics has enriched this picture, with analyses of mitochondrial DNA and the Y chromosome allowing a more detailed exploration of alternative models for the spread of the Neolithic into Europe. This paper considers a range of possible models in the light of the detailed information now emerging from genetic studies.

  11. Genetic evidence for common pathways in human age-related diseases.

    Science.gov (United States)

    Johnson, Simon C; Dong, Xiao; Vijg, Jan; Suh, Yousin

    2015-10-01

    Aging is the single largest risk factor for chronic disease. Studies in model organisms have identified conserved pathways that modulate aging rate and the onset and progression of multiple age-related diseases, suggesting that common pathways of aging may influence age-related diseases in humans as well. To determine whether there is genetic evidence supporting the notion of common pathways underlying age-related diseases, we analyzed the genes and pathways found to be associated with five major categories of age-related disease using a total of 410 genomewide association studies (GWAS). While only a small number of genes are shared among all five disease categories, those found in at least three of the five major age-related disease categories are highly enriched for apoliprotein metabolism genes. We found that a more substantial number of gene ontology (GO) terms are shared among the 5 age-related disease categories and shared GO terms include canonical aging pathways identified in model organisms, such as nutrient-sensing signaling, translation, proteostasis, stress responses, and genome maintenance. Taking advantage of the vast amount of genetic data from the GWAS, our findings provide the first direct evidence that conserved pathways of aging simultaneously influence multiple age-related diseases in humans as has been demonstrated in model organisms. © 2015 The Authors. Aging Cell published by the Anatomical Society and John Wiley & Sons Ltd.

  12. Design of Clinical Support Systems Using Integrated Genetic Algorithm and Support Vector Machine

    Science.gov (United States)

    Chen, Yung-Fu; Huang, Yung-Fa; Jiang, Xiaoyi; Hsu, Yuan-Nian; Lin, Hsuan-Hung

    Clinical decision support system (CDSS) provides knowledge and specific information for clinicians to enhance diagnostic efficiency and improving healthcare quality. An appropriate CDSS can highly elevate patient safety, improve healthcare quality, and increase cost-effectiveness. Support vector machine (SVM) is believed to be superior to traditional statistical and neural network classifiers. However, it is critical to determine suitable combination of SVM parameters regarding classification performance. Genetic algorithm (GA) can find optimal solution within an acceptable time, and is faster than greedy algorithm with exhaustive searching strategy. By taking the advantage of GA in quickly selecting the salient features and adjusting SVM parameters, a method using integrated GA and SVM (IGS), which is different from the traditional method with GA used for feature selection and SVM for classification, was used to design CDSSs for prediction of successful ventilation weaning, diagnosis of patients with severe obstructive sleep apnea, and discrimination of different cell types form Pap smear. The results show that IGS is better than methods using SVM alone or linear discriminator.

  13. The role of the genetic counsellor: a systematic review of research evidence.

    Science.gov (United States)

    Skirton, Heather; Cordier, Christophe; Ingvoldstad, Charlotta; Taris, Nicolas; Benjamin, Caroline

    2015-04-01

    In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and facilitation of psychosocial adjustment of the client to their genetic status and situation. To evaluate the extent to which genetic counsellors fulfil their prescribed roles, we conducted a systematic review of the published relevant scientific evidence. We searched five relevant electronic databases (Medline, CINAHL, SocIndex, AMED and PsychInfo) using relevant search terms and handsearched four subject-specific journals for research-based papers published in English between 1 January 2000 and 30 June 2013. Of 419 potential papers identified initially, seven satisfied the inclusion criteria for the review. Themes derived from the thematic analysis of the data were: (i) rationale for genetic counsellors to provide care, (ii) appropriate roles and responsibilities and (iii) the types of conditions included in the genetic counsellor caseload. The findings of this systematic review indicate that where genetic counsellors are utilised in specialist genetic settings, they undertake a significant workload associated with direct patient care and this appears to be acceptable to patients. With the burden on genetic services, there is an argument for the increased use of genetic counsellors in countries where they are under-utilised. In addition, roles undertaken by genetic counsellors in specialist genetic settings could be adapted to integrate genetic counsellors into multi-disciplinary teams in other specialisms.

  14. Middle school students' learning about genetic inheritance through on-line scaffolding supports

    Science.gov (United States)

    Manokore, Viola

    The main goal of school science is to enable learners to become scientifically literate through their participation in scientific discourses (McNeill & Krajcik, 2009). One of the key elements of scientific discourses is the ability to construct scientific explanations that consist of valid claims supported by appropriate evidence (e.g., McNeill & Krajcik, 2006, Sadler, 2004; Sandoval & Reiser, 2004). Curricula scaffolds may help students construct scientific explanations and achieve their learning goals. This dissertation study is part of a larger study designed to support fifth through seventh grade students' learning about genetic inheritance through curricula scaffolds. Seventh grade students in this study interacted with a Web Based Inquiry Science Environment (WISE) unit called "From Genotype to Phenotype" that had curricula scaffolds. Informed by the Scaffolded Knowledge Integration, two versions of the unit were developed around concepts on genetic inheritance. Version one of the units was explicit on explaining to students how to make a claim and support it with appropriate evidence. Although the science concepts covered were the same, Version two was not explicit on claims and evidence use. Embedded in the units were scaffolding supports in the form of prompts. This dissertation study explored students' responses to the scaffolding support prompts using a knowledge integration (KI) rubric as described by Linn and His (2000). Two teachers, each with about 150 students in five classes of about 25 each, participated in the study. Each teacher had three classes of students that received a version one and the other two classed received version two of "From Genotype to Phenotype" unit. Using the Statistical Package for Social Scientists (SPSS), I explored whether students' scores, as measured by the KI rubric, varied by the unit version the students received or by the teacher they had. The findings suggested that the two versions of the unit were equally

  15. Genetic evidence for the multiple origins of Pinghua Chinese

    Institute of Scientific and Technical Information of China (English)

    Yan LU; Shang-Ling PAN; Shu-Ming QIN; Zheng-Dong QIN; Chuan-Chao WANG; Rui-Jing GAN; Hui LI

    2013-01-01

    Linguistics and genetics always reach similar results in phylogenetic studies of human populations.A previous study found that populations speaking Han Chinese dialects have closer genetic relationships to each other than to neighboring ethnic groups.However,the Pinghua Chinese population from Guangxi is an exception.We have reported that northem Pinghua people are genetically related to populations speaking Daic languages.In this study,we further studied the southern Pinghua population.The Y chromosome and mitochondrial DNA haplogroup components and network analysis indicated that northern and southern Pinghua populations were genetically different.Therefore,we concluded that the Pinghua speakers may have various origins,even though Pinghua dialects are similar.Pinghua dialects might have originated when the Daic or Hmongic speakers from different regions learnt to speak the same Chinese dialect hundreds of years ago.Speakers of one language do not always have just one origin.

  16. Teaching strategies to support evidence-based practice.

    Science.gov (United States)

    Winters, Charlene A; Echeverri, Rebecca

    2012-06-01

    Evidence-based practice is an expected core competency of all health care clinicians regardless of discipline. Use of evidence-based practice means integrating the best research with clinical expertise and patient values to achieve optimal health outcomes. Evidence-based practice requires nurses to access and appraise evidence rapidly before integrating it into clinical practice. Role modeling and integrating the skills necessary to develop evidence-based practice into clinical and nonclinical courses is an important part in developing positive attitudes toward evidence-based practice, an essential first step to using evidence to guide practice decisions. The step-by-step approach to evidence-based practice proposed by Melnyk and colleagues provides an excellent organizing framework for teaching strategies specifically designed to facilitate nurses' knowledge and skill development in evidence-based practice.

  17. Evidence that pairing with genetically similar mates is maladaptive in a monogamous bird

    Science.gov (United States)

    Mulard, Hervé; Danchin, E.; Talbot, S.L.; Ramey, A.M.; Hatch, Shyla A.; White, J.F.; Helfenstein, F.; Wagner, R.H.

    2009-01-01

    Background. Evidence of multiple genetic criteria of mate choice is accumulating in numerous taxa. In many species, females have been shown to pair with genetically dissimilar mates or with extra-pair partners that are more genetically compatible than their social mates, thereby increasing their offsprings' heterozygosity which often correlates with offspring fitness. While most studies have focused on genetically promiscuous species, few studies have addressed genetically monogamous species, in which mate choice tends to be mutual. Results. Here, we used microsatellite markers to assess individual global heterozygosity and genetic similarity of pairs in a socially and genetically monogamous seabird, the black-legged kittiwake Rissa tridactyla. We found that pairs were more genetically dissimilar than expected by chance. We also identified fitness costs of breeding with genetically similar partners: (i) genetic similarity of pairs was negatively correlated with the number of chicks hatched, and (ii) offspring heterozygosity was positively correlated with growth rate and survival. Conclusion. These findings provide evidence that breeders in a genetically monogamous species may avoid the fitness costs of reproducing with a genetically similar mate. In such species that lack the opportunity to obtain extra-pair fertilizations, mate choice may therefore be under high selective pressure. ?? 2009 Mulard et al; licensee BioMed Central Ltd.

  18. Evidence that pairing with genetically similar mates is maladaptive in a monogamous bird

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    Ramey Andrew M

    2009-06-01

    Full Text Available Abstract Background Evidence of multiple genetic criteria of mate choice is accumulating in numerous taxa. In many species, females have been shown to pair with genetically dissimilar mates or with extra-pair partners that are more genetically compatible than their social mates, thereby increasing their offsprings' heterozygosity which often correlates with offspring fitness. While most studies have focused on genetically promiscuous species, few studies have addressed genetically monogamous species, in which mate choice tends to be mutual. Results Here, we used microsatellite markers to assess individual global heterozygosity and genetic similarity of pairs in a socially and genetically monogamous seabird, the black-legged kittiwake Rissa tridactyla. We found that pairs were more genetically dissimilar than expected by chance. We also identified fitness costs of breeding with genetically similar partners: (i genetic similarity of pairs was negatively correlated with the number of chicks hatched, and (ii offspring heterozygosity was positively correlated with growth rate and survival. Conclusion These findings provide evidence that breeders in a genetically monogamous species may avoid the fitness costs of reproducing with a genetically similar mate. In such species that lack the opportunity to obtain extra-pair fertilizations, mate choice may therefore be under high selective pressure.

  19. Impact of behavioral genetic evidence on the adjudication of criminal behavior.

    Science.gov (United States)

    Appelbaum, Paul S; Scurich, Nicholas

    2014-01-01

    Recent advances in behavioral genetics suggest a modest relationship among certain gene variants, early childhood experiences, and criminal behavior. Although scientific research examining this link is still at an early stage, genetic data are already being introduced in criminal trials. However, the extent to which such evidence is likely to affect jurors' decisions has not been explored. In the present study, a representative sample of the U.S. population (n = 250) received a vignette describing an apparently impulsive homicide, accompanied by one of four explanations of the defendant's impulsivity: childhood abuse, genetic predisposition, childhood abuse and genetic predisposition, or simple impulsive behavior. The participants were asked to identify the crime that the defendant had committed and to select an appropriate sentence range. Evidence of genetic predisposition did not affect the crime of which the defendant was convicted or the sentence. However, participants who received the abuse or genetic + abuse explanation imposed longer prison sentences. Paradoxically, the genetic and genetic + abuse conditions engendered the greatest fear of the defendant. These findings should allay concerns that genetic evidence in criminal adjudications will be overly persuasive to jurors, but should raise questions about the impact of genetic attributions on perceptions of dangerousness.

  20. Population genetic evidence for sex-specific dispersal in an inbred social spider.

    Science.gov (United States)

    Smith, Deborah R; Su, Yong-Chao; Berger-Tal, Reut; Lubin, Yael

    2016-08-01

    Dispersal in most group-living species ensures gene flow among groups, but in cooperative social spiders, juvenile dispersal is suppressed and colonies are highly inbred. It has been suggested that such inbred sociality is advantageous in the short term, but likely to lead to extinction or reduced speciation rates in the long run. In this situation, very low levels of dispersal and gene flow among colonies may have unusually important impacts on fitness and persistence of social spiders. We investigated sex-specific differences in dispersal and gene flow among colonies, as reflected in the genetic structure within colonies and populations of the African social spider Stegodyphus dumicola Pocock, 1898 (Eresidae). We used DNA fingerprinting and mtDNA sequence data along with spatial mapping of colonies to compare male and female patterns of relatedness within and among colonies at three study sites. Samples were collected during and shortly after the mating season to detect sex-specific dispersal. Distribution of mtDNA haplotypes was consistent with proliferation of social nests by budding and medium- to long-distance dispersal by ballooning females. Analysis of molecular variance and spatial autocorrelation analyses of AFLPs showed high levels of genetic similarity within colonies, and STRUCTURE analyses revealed that the number of source populations contributing to colonies ranged from one to three. We also showed significant evidence of male dispersal among colonies at one site. These results support the hypothesis that in social spiders, genetic cohesion among populations is maintained by long-distance dispersal of female colony founders. Genetic diversity within colonies is maintained by colony initiation by multiple dispersing females, and adult male dispersal over short distances. Male dispersal may be particularly important in maintaining gene flow among colonies in local populations.

  1. Talent "and" Expertise: The Empirical Evidence for Genetic Endowment

    Science.gov (United States)

    Simonton, Dean Keith

    2007-01-01

    In this commentary, the author focuses on the claim summarized in the last sentence of the target article's abstract. To begin, the concept of talent does not require the existence of "innate constraints to the attainment of elite achievement". On the contrary, genetic endowment may merely influence the rate at which domain-specific expertise is…

  2. American Dental Association's Resources to Support Evidence-Based Dentistry.

    Science.gov (United States)

    Aravamudhan, K; Frantsve-Hawley, Julie

    2009-09-01

    Time and access have often been cited as barriers to implementing Evidence-Based Dentistry (EBD). This paper describes a new web-based resource launched by the American Dental Association to enable practitioners to incorporate evidence into treatment planning. The website offers a database of systematic reviews, critical summaries of systematic reviews, evidence-based clinical recommendations and links to external resources to enable practitioners to access evidence at the point of care. In addition the site offers an online space for clinicians to suggest clinical scenarios where evidence is lacking. This could potentially be a source of topics to drive future research. With the explosion in the use of information technology within a dental office, this web-site will serve as the one-stop resource for credible scientific information for practitioners.

  3. Mate choice and friendship in twins: evidence for genetic similarity.

    Science.gov (United States)

    Rushton, J Philippe; Bons, Trudy Ann

    2005-07-01

    This study examined the genetic and environmental contribution to people's preference for spouses and friends to be similar to themselves. In their responses to 130 personality, attitude, and demographic questions, 174 pairs of monozygotic (MZ) twins resembled each other (r= .53) more than did 148 pairs of dizygotic (DZ) twins (r= .32), 322 pairs of spouses (r= .32), and 563 pairs of best friends (r= .20). It was not previously recognized that spouses and friends are as similar as DZ twins. MZ twins also chose spouses and best friends more similar to their co-twins' friends and spouses than did DZ twins (mean rs = .22 vs. .14). The twins' preference for spouses and friends similar to themselves was about 34% due to the twins' genes, 12% due to the twins' common environment, and 54% due to the twins' unique (nonshared) environment. Similarity to partners was more pronounced on the more heritable items than the less heritable items. It is concluded that people are genetically inclined to choose as social partners those who resemble themselves at a genetic level.

  4. Genetic analysis of individual origins supports isolation of grizzly bears in the Greater Yellowstone Ecosystem

    Science.gov (United States)

    Haroldson, Mark A.; Schwartz, Charles; Kendall, Katherine C.; Gunther, Kerry A.; Moody, David S.; Frey, Kevin L.; Paetkau, David

    2010-01-01

    The Greater Yellowstone Ecosystem (GYE) supports the southernmost of the 2 largest remaining grizzly bear (Ursus arctos) populations in the contiguous United States. Since the mid-1980s, this population has increased in numbers and expanded in range. However, concerns for its long-term genetic health remain because of its presumed continued isolation. To test the power of genetic methods for detecting immigrants, we generated 16-locus microsatellite genotypes for 424 individual grizzly bears sampled in the GYE during 1983–2007. Genotyping success was high (90%) and varied by sample type, with poorest success (40%) for hair collected from mortalities found ≥1 day after death. Years of storage did not affect genotyping success. Observed heterozygosity was 0.60, with a mean of 5.2 alleles/marker. We used factorial correspondence analysis (Program GENETIX) and Bayesian clustering (Program STRUCTURE) to compare 424 GYE genotypes with 601 existing genotypes from grizzly bears sampled in the Northern Continental Divide Ecosystem (NCDE) (FST  =  0.096 between GYE and NCDE). These methods correctly classified all sampled individuals to their population of origin, providing no evidence of natural movement between the GYE and NCDE. Analysis of 500 simulated first-generation crosses suggested that over 95% of such bears would also be detectable using our 16-locus data set. Our approach provides a practical method for detecting immigration in the GYE grizzly population. We discuss estimates for the proportion of the GYE population sampled and prospects for natural immigration into the GYE.

  5. New Evidence: Data Documenting Parental Support for Earlier Sexuality Education

    Science.gov (United States)

    Barr, Elissa M.; Moore, Michele J.; Johnson, Tammie; Forrest, Jamie; Jordan, Melissa

    2014-01-01

    Background: Numerous studies document support for sexuality education to be taught in high school, and often, in middle school. However, little research has been conducted addressing support for sexuality education in elementary schools. Methods: As part of the state Behavioral Risk Factor Surveillance System (BRFSS) Survey administration, the…

  6. Genetic diversity of Vietnamese domestic chicken populations as decision-making support for conservation strategies

    NARCIS (Netherlands)

    Pham, H.T.M.; Berthouly-Salazar, C.; Crooijmans, R.P.M.A.

    2013-01-01

    The aims of this study were to assess the genetic diversity of 17 populations of Vietnamese local chickens (VNN) and one Red Jungle Fowl population, together with six chicken populations of Chinese origin (CNO), and to provide priorities supporting the conservation of genetic resources using 20 micr

  7. Genetic diversity of Vietnamese domestic chicken populations as decision-making support for conservation strategies

    NARCIS (Netherlands)

    Pham, H.T.M.; Berthouly-Salazar, C.; Crooijmans, R.P.M.A.

    2013-01-01

    The aims of this study were to assess the genetic diversity of 17 populations of Vietnamese local chickens (VNN) and one Red Jungle Fowl population, together with six chicken populations of Chinese origin (CNO), and to provide priorities supporting the conservation of genetic resources using 20

  8. Evidence supporting biologically mediated sulfide oxidation in hot spring ecosystems

    Science.gov (United States)

    Cox, A. D.; Shock, E.

    2011-12-01

    The sulfide concentration of fluids in hydrothermal ecosystems is one of several factors determining the transition to microbial photosynthesis (Cox et al., 2011, Chem. Geol. 280, 344-351). To investigate the loss of sulfide in Yellowstone hot spring systems, measurements of total dissolved sulfide with respect to time were made in incubation experiments conducted on 0.2-micron filtered (killed controls) vs. unfiltered hot spring water at locations with three different pH:sulfide combinations (pH 2.5 with 50 μM sulfide, 5.2 with 5.6 μM sulfide, and 8.3 with 86 μM sulfide). At the higher pH values, the experiments yielded similar rates of sulfide loss in filtered and unfiltered water of approximately 0.8 (pH 5.2) and 7.6 nmol sulfide L-1s-1 (pH 8.3). At the acidic spring, the unfiltered water lost sulfide at a rate 1.6 times that of the filtered water (8.2 vs. 5 nmol sulfide L-1s-1). These results suggest that the pelagic biomass at the pH 5.2 and 8.3 springs may not affect sulfide loss, whereas in the pH 2.5 spring there appears to be an effect. In addition, the incubation of filamentous biomass with unfiltered water increased the rate of sulfide loss by approximately two-fold at a pH of 2.5 (59 vs. 31 nmol L-1s-1; Cox et al., 2011), five-fold at a pH of 5.2 (3.9 vs. 0.8 nmol sulfide L-1s-1), and barely increased the rate of sulfide loss at a pH of 8.3 (9.1 vs. 8.4 nmol sulfide L-1s-1). Sulfide is predominately present as HS- at a pH of 8.3, which may not be taken up as easily by microorganisms as the H2S (aq) that dominates sulfide speciation at pH 2.5 and 5.2. That the loss of sulfide at acidic pH is due to biotic rather than abiotic factors is further supported by studies with whole mat samples that show greater sulfide consumption than killed controls (D'Imperio et al., 2008, AEM 74, 5802-5808). Taken together, the results of these experiments suggest that the majority of sulfide oxidation occurs in the filamentous biomass of hot spring ecosystems, although

  9. The flexible stem hypothesis: evidence from genetic data.

    Science.gov (United States)

    Gibert, Jean-Michel

    2017-08-06

    Phenotypic plasticity, the ability of a given genotype to produce different phenotypes in response to distinct environmental conditions, is widely observed in the wild. It is believed to facilitate evolution and, under the "flexible stem hypothesis", it is thought that an ancestral plastic species can be at the origin of sister lineages with divergent phenotypes fixed by genetic assimilation of alternative morphs. We review here the genetic mechanisms underlying such phenomenon. We show several examples in which the same gene shows transcriptional plasticity in response to environmental factors and divergence of expression within or between species. Thus, the same gene is involved both in the plasticity of a trait and in the evolution of that trait. In a few cases, it can be traced down to cis-regulatory variation in this gene and, in one case, in the very same regulatory sequence whose activity is modulated by the environment. These data are compatible with the "flexible stem hypothesis" and also suggest that the evolution of the plasticity of a trait and the evolution of the trait are not completely uncoupled as they often involve the same locus. Furthermore, the "flexible stem hypothesis" implies that it is possible to canalize initially plastic phenotypes. Several studies have shown that it was possible through modification of chromatin regulation or hormonal signalling/response. Further studies of phenotypic plasticity in an evolutionary framework are needed to see how much the findings described in this review can be generalized.

  10. Genetic evidence of multiple loci in dystocia - difficult labour

    Directory of Open Access Journals (Sweden)

    Westgren Magnus

    2010-06-01

    Full Text Available Abstract Background Dystocia, difficult labour, is a common but also complex problem during childbirth. It can be attributed to either weak contractions of the uterus, a large infant, reduced capacity of the pelvis or combinations of these. Previous studies have indicated that there is a genetic component in the susceptibility of experiencing dystocia. The purpose of this study was to identify susceptibility genes in dystocia. Methods A total of 104 women in 47 families were included where at least two sisters had undergone caesarean section at a gestational length of 286 days or more at their first delivery. Study of medical records and a telephone interview was performed to identify subjects with dystocia. Whole-genome scanning using Affymetrix genotyping-arrays and non-parametric linkage (NPL analysis was made in 39 women exhibiting the phenotype of dystocia from 19 families. In 68 women re-sequencing was performed of candidate genes showing suggestive linkage: oxytocin (OXT on chromosome 20 and oxytocin-receptor (OXTR on chromosome 3. Results We found a trend towards linkage with suggestive NPL-score (3.15 on chromosome 12p12. Suggestive linkage peaks were observed on chromosomes 3, 4, 6, 10, 20. Re-sequencing of OXT and OXTR did not reveal any causal variants. Conclusions Dystocia is likely to have a genetic component with variations in multiple genes affecting the patient outcome. We found 6 loci that could be re-evaluated in larger patient cohorts.

  11. Extensive genetic diversity, unique population structure and evidence of genetic exchange in the sexually transmitted parasite Trichomonas vaginalis.

    Directory of Open Access Journals (Sweden)

    Melissa D Conrad

    Full Text Available Trichomonas vaginalis is the causative agent of human trichomoniasis, the most common non-viral sexually transmitted infection world-wide. Despite its prevalence, little is known about the genetic diversity and population structure of this haploid parasite due to the lack of appropriate tools. The development of a panel of microsatellite makers and SNPs from mining the parasite's genome sequence has paved the way to a global analysis of the genetic structure of the pathogen and association with clinical phenotypes.Here we utilize a panel of T. vaginalis-specific genetic markers to genotype 235 isolates from Mexico, Chile, India, Australia, Papua New Guinea, Italy, Africa and the United States, including 19 clinical isolates recently collected from 270 women attending New York City sexually transmitted disease clinics. Using population genetic analysis, we show that T. vaginalis is a genetically diverse parasite with a unique population structure consisting of two types present in equal proportions world-wide. Parasites belonging to the two types (type 1 and type 2 differ significantly in the rate at which they harbor the T. vaginalis virus, a dsRNA virus implicated in parasite pathogenesis, and in their sensitivity to the widely-used drug, metronidazole. We also uncover evidence of genetic exchange, indicating a sexual life-cycle of the parasite despite an absence of morphologically-distinct sexual stages.Our study represents the first robust and comprehensive evaluation of global T. vaginalis genetic diversity and population structure. Our identification of a unique two-type structure, and the clinically relevant phenotypes associated with them, provides a new dimension for understanding T. vaginalis pathogenesis. In addition, our demonstration of the possibility of genetic exchange in the parasite has important implications for genetic research and control of the disease.

  12. Genetic evidence for the association between the early growth response 3 (EGR3 gene and schizophrenia.

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    Rui Zhang

    Full Text Available Recently, two genome scan meta-analysis studies have found strong evidence for the association of loci on chromosome 8p with schizophrenia. The early growth response 3 (EGR3 gene located in chromosome 8p21.3 was also found to be involved in the etiology of schizophrenia. However, subsequent studies failed to replicate this finding. To investigate the genetic role of EGR3 in Chinese patients, we genotyped four SNPs (average interval ∼2.3 kb in the chromosome region of EGR3 in 470 Chinese schizophrenia patients and 480 healthy control subjects. The SNP rs35201266 (located in intron 1 of EGR3 showed significant differences between cases and controls in both genotype frequency distribution (P = 0.016 and allele frequency distribution (P = 0.009. Analysis of the haplotype rs35201266-rs3750192 provided significant evidence for association with schizophrenia (P = 0.0012; a significant difference was found for the common haplotype AG (P = 0.0005. Furthermore, significant associations were also found in several other two-, and three-SNP tests of haplotype analyses. The meta-analysis revealed a statistically significant association between rs35201266 and schizophrenia (P = 0.0001. In summary, our study supports the association of EGR3 with schizophrenia in our Han Chinese sample, and further functional exploration of the EGR3 gene will contribute to the molecular basis for the complex network underlying schizophrenia pathogenesis.

  13. Evidence supporting broader access to safe legal abortion.

    Science.gov (United States)

    Faúndes, Anibal; Shah, Iqbal H

    2015-10-01

    Unsafe abortion continues to be a major cause of maternal death; it accounts for 14.5% of all maternal deaths globally and almost all of these deaths occur in countries with restrictive abortion laws. A strong body of accumulated evidence shows that the simple means to drastically reduce unsafe abortion-related maternal deaths and morbidity is to make abortion legal and institutional termination of pregnancy broadly accessible. Despite this evidence, abortion is denied even when the legal condition for abortion is met. The present article aims to contribute to a better understanding that one can be in favor of greater access to safe abortion services, while at the same time not be "in favor of abortion," by reviewing the evidence that indicates that criminalization of abortion only increases mortality and morbidity without decreasing the incidence of induced abortion, and that decriminalization rapidly reduces abortion-related mortality and does not increase abortion rates. Copyright © 2015. Published by Elsevier Ireland Ltd.

  14. Evolutionary triangulation: informing genetic association studies with evolutionary evidence.

    Science.gov (United States)

    Huang, Minjun; Graham, Britney E; Zhang, Ge; Harder, Reed; Kodaman, Nuri; Moore, Jason H; Muglia, Louis; Williams, Scott M

    2016-01-01

    Genetic studies of human diseases have identified many variants associated with pathogenesis and severity. However, most studies have used only statistical association to assess putative relationships to disease, and ignored other factors for evaluation. For example, evolution is a factor that has shaped disease risk, changing allele frequencies as human populations migrated into and inhabited new environments. Since many common variants differ among populations in frequency, as does disease prevalence, we hypothesized that patterns of disease and population structure, taken together, will inform association studies. Thus, the population distributions of allelic risk variants should reflect the distributions of their associated diseases. Evolutionary Triangulation (ET) exploits this evolutionary differentiation by comparing population structure among three populations with variable patterns of disease prevalence. By selecting populations based on patterns where two have similar rates of disease that differ substantially from a third, we performed a proof of principle analysis for this method. We examined three disease phenotypes, lactase persistence, melanoma, and Type 2 diabetes mellitus. We show that for lactase persistence, a phenotype with a simple genetic architecture, ET identifies the key gene, lactase. For melanoma, ET identifies several genes associated with this disease and/or phenotypes related to it, such as skin color genes. ET was less obviously successful for Type 2 diabetes mellitus, perhaps because of the small effect sizes in known risk loci and recent environmental changes that have altered disease risk. Alternatively, ET may have revealed new genes involved in conferring disease risk for diabetes that did not meet nominal GWAS significance thresholds. We also compared ET to another method used to filter for phenotype associated genes, population branch statistic (PBS), and show that ET performs better in identifying genes known to associate with

  15. Testimony and Evidence To Support Small Classes, K-3.

    Science.gov (United States)

    Achilles, C. M.

    This testimonial presents evidence that reduced class size (CSR) has positive effects on student learning in grades K-3. Student achievement is improved in the areas of academics, behavior and discipline, citizenship and participation in and outside school, and development into competent and productive adults. The paper emphasizes that class size…

  16. Vaccines and autism: evidence does not support a causal association.

    Science.gov (United States)

    DeStefano, F

    2007-12-01

    A suggested association between certain childhood vaccines and autism has been one of the most contentious vaccine safety controversies in recent years. Despite compelling scientific evidence against a causal association, many parents and parent advocacy groups continue to suspect that vaccines, particularly measles-mumps-rubella (MMR) vaccine and thimerosal-containing vaccines (TCVs), can cause autism.

  17. How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence.

    Science.gov (United States)

    Mendes, Álvaro; Paneque, Milena; Sousa, Liliana; Clarke, Angus; Sequeiros, Jorge

    2016-03-01

    Supporting consultands to communicate risk information with their relatives is key to obtaining the full benefits of genetic health care. To understand how health-care professionals address this issue in clinical practice and what interventions are used specifically to assist consultands in their communication of genetic information to appropriate relatives, we conducted a systematic review. Four electronic databases and four subject-specific journals were searched for papers published, in English, between January 1997 and May 2014. Of 2926 papers identified initially, 14 papers met the inclusion criteria for the review and were heterogeneous in design, setting and methods. Thematic data analysis has shown that dissemination of information within families is actively encouraged and supported by professionals. Three overarching themes emerged: (1) direct contact from genetic services: sending letters to relatives of mutation carriers; (2) professionals' encouragement of initially reluctant consultands to share relevant information with at-risk relatives and (3) assisting consultands in communicating genetic information to their at-risk relatives, which included as subthemes (i) psychoeducational guidance and (ii) written information aids. Findings suggest that professionals' practice and interventions are predicated on the need to proactively encourage family communication. We discuss this in the context of what guidance of consultands by professionals might be appropriate, as best practices to facilitate family communication, and of the limits to non-directiveness in genetic counselling.

  18. Professional Knowledge of Child Support Staff: Evidence from the New Jersey Child Support Training Program

    Science.gov (United States)

    Huang, Chien-Chung; Blake, Allison; Edwards, Richard L.; Liu, Chieh-Wen; Nolan, Robert B.; Rusen, Barbara; Thompson, Dina

    2010-01-01

    Child support enforcement (CSE) has experienced dramatic changes in the last decade; however, it is not clear whether child support staff is fully aware of the development. Using data from the New Jersey child support training program (n = 530), this article aims to evaluate the professional knowledge of child support staff. The results show that…

  19. Genetic evidence on the origins of Indian caste populations.

    Science.gov (United States)

    Bamshad, M; Kivisild, T; Watkins, W S; Dixon, M E; Ricker, C E; Rao, B B; Naidu, J M; Prasad, B V; Reddy, P G; Rasanayagam, A; Papiha, S S; Villems, R; Redd, A J; Hammer, M F; Nguyen, S V; Carroll, M L; Batzer, M A; Jorde, L B

    2001-06-01

    The origins and affinities of the approximately 1 billion people living on the subcontinent of India have long been contested. This is owing, in part, to the many different waves of immigrants that have influenced the genetic structure of India. In the most recent of these waves, Indo-European-speaking people from West Eurasia entered India from the Northwest and diffused throughout the subcontinent. They purportedly admixed with or displaced indigenous Dravidic-speaking populations. Subsequently they may have established the Hindu caste system and placed themselves primarily in castes of higher rank. To explore the impact of West Eurasians on contemporary Indian caste populations, we compared mtDNA (400 bp of hypervariable region 1 and 14 restriction site polymorphisms) and Y-chromosome (20 biallelic polymorphisms and 5 short tandem repeats) variation in approximately 265 males from eight castes of different rank to approximately 750 Africans, Asians, Europeans, and other Indians. For maternally inherited mtDNA, each caste is most similar to Asians. However, 20%-30% of Indian mtDNA haplotypes belong to West Eurasian haplogroups, and the frequency of these haplotypes is proportional to caste rank, the highest frequency of West Eurasian haplotypes being found in the upper castes. In contrast, for paternally inherited Y-chromosome variation each caste is more similar to Europeans than to Asians. Moreover, the affinity to Europeans is proportionate to caste rank, the upper castes being most similar to Europeans, particularly East Europeans. These findings are consistent with greater West Eurasian male admixture with castes of higher rank. Nevertheless, the mitochondrial genome and the Y chromosome each represents only a single haploid locus and is more susceptible to large stochastic variation, bottlenecks, and selective sweeps. Thus, to increase the power of our analysis, we assayed 40 independent, biparentally inherited autosomal loci (1 LINE-1 and 39 Alu elements

  20. First evidence of inbreeding, relatedness and chaotic genetic patchiness in the holoplanktonic jellyfish Pelagia noctiluca (Scyphozoa, Cnidaria).

    Science.gov (United States)

    Aglieri, Giorgio; Papetti, Chiara; Zane, Lorenzo; Milisenda, Giacomo; Boero, Ferdinando; Piraino, Stefano

    2014-01-01

    Genetic drift and non-random mating seldom influence species with large breeding populations and high dispersal potential, characterized by unstructured gene pool and panmixia at a scale lower than the minimum dispersal range of individuals. In the present study, a set of nine microsatellite markers was developed and used to investigate the spatio-temporal genetic patterns of the holoplanktonic jellyfish Pelagia noctiluca (Scyphozoa) in the Southern Tyrrhenian Sea. Homozygote excess was detected at eight loci, and individuals exhibited intra-population relatedness higher than expected by chance in at least three samples. This result was supported by the presence of siblings in at least 5 out 8 samples, 4 of which contained full-sib in addition to half-sib dyads. Having tested and ruled out alternative explanations as null alleles, our results suggest the influence of reproductive and behavioural features in shaping the genetic structure of P. noctiluca, as outcomes of population genetics analyses pointed out. Indeed, the genetic differentiation among populations was globally small but highlighted: a) a spatial genetic patchiness uncorrelated with distance between sampling locations, and b) a significant genetic heterogeneity between samples collected in the same locations in different years. Therefore, despite its extreme dispersal potential, P. noctiluca does not maintain a single homogenous population, but rather these jellyfish appear to have intra-bloom localized recruitment and/or individual cohesiveness, whereby siblings more likely swarm together as a single group and remain close after spawning events. These findings provide the first evidence of family structures and consequent genetic patchiness in a species with highly dispersive potential throughout its whole life cycle, contributing to understanding the patterns of dispersal and connectivity in marine environments.

  1. Standardized Nursing Documentation Supports Evidence-Based Nursing Management.

    Science.gov (United States)

    Mykkänen, Minna; Miettinen, Merja; Saranto, Kaija

    2016-01-01

    Nursing documentation is crucial to high quality, effective and safe nursing care. According to earlier studies nursing documentation practices vary and nursing classifications used in electronic patient records (EPR) are not yet standardized internationally nor nationally. A unified national model for documenting patient care improves information flow in nursing practice, management, research and development toward evidence-based nursing care. Nursing documentation quality, accuracy and development requires follow-up and evaluation. An audit instrument is used in the Kuopio University Hospital (KUH) when evaluating nursing documentation. The results of the auditing process suggest that the national nursing documentation model fulfills nurses' expectations of electronic tools, facilitating their important documentation duty. This paper discusses the importance of using information about nursing documentation and how we can take advantage of structural information in evidence-based nursing management.

  2. Narcissism predicts impulsive buying: phenotypic and genetic evidence.

    Science.gov (United States)

    Cai, Huajian; Shi, Yuanyuan; Fang, Xiang; Luo, Yu L L

    2015-01-01

    Impulsive buying makes billions of dollars for retail businesses every year, particularly in an era of thriving e-commerce. Narcissism, characterized by impulsivity and materialism, may serve as a potential antecedent to impulsive buying. To test this hypothesis, two studies examined the relationship between narcissism and impulsive buying. In Study 1, we surveyed an online sample and found that while adaptive narcissism was not correlated with impulsive buying, maladaptive narcissism was significantly predictive of the impulsive buying tendency. By investigating 304 twin pairs, Study 2 showed that global narcissism and its two components, adaptive and maladaptive narcissism, as well as the impulsive buying tendency were heritable. The study found, moreover, that the connections between global narcissism and impulsive buying, and between maladaptive narcissism and impulsive buying were genetically based. These findings not only establish a link between narcissism and impulsive buying but also help to identify the origins of the link. The present studies deepen our understanding of narcissism, impulsive buying, and their interrelationship.

  3. Genetic evidence for two founding populations of the Americas

    Science.gov (United States)

    Skoglund, Pontus; Mallick, Swapan; Bortolini, Maria Cátira; Chennagiri, Niru; Hünemeier, Tábita; Petzl-Erler, Maria Luiza; Salzano, Francisco Mauro; Patterson, Nick; Reich, David

    2015-01-01

    Genetic studies have been consistent with a single common origin of Native American groups from Central and South America1-4. However, some morphological studies have suggested a more complex picture, whereby the northeast Asian affinities of present-day Native Americans contrast with a distinctive morphology seen in some of the earliest American skeletons, which share traits with present-day Australasians (indigenous groups in Australia, Melanesia, and island southeast Asia)5-8. Here we analyze genome-wide data to show that some Amazonian Native Americans descend partly from a Native American founding population that carried ancestry more closely related to indigenous Australians, New Guineans and Andaman Islanders than to any present-day Eurasians or Native Americans. This signature is not present to the same extent or at all in present-day Northern and Central Americans or a ~12,600 year old Clovis genome, suggesting a more diverse set of founding populations of the Americas than previously accepted. PMID:26196601

  4. Narcissism predicts impulsive buying: phenotypic and genetic evidence

    Directory of Open Access Journals (Sweden)

    Huajian eCai

    2015-07-01

    Full Text Available Impulsive buying makes billions of dollars for retail businesses every year, particularly in an era of thriving e-commerce. Narcissism, characterized by impulsivity and materialism, may serve as a potential antecedent to impulsive buying. To test this hypothesis, two studies examined the relationship between narcissism and impulsive buying. In study 1, we surveyed narcissism and the impulsive buying tendency among an online sample and found that while adaptive narcissism was not correlated with impulsive buying, maladaptive narcissism was significantly predictive of the impulsive buying tendency. By investigating narcissism and the impulsive buying tendency in 304 twin pairs, study 2 showed that global narcissism and its two components, adaptive and maladaptive narcissism, as well as the impulsive buying tendency were heritable. The study found, moreover, that the connections between global narcissism and impulsive buying, and between maladaptive narcissism and impulsive buying were genetically based. These findings not only establish a link between narcissism and impulsive buying but also help to identify the origins of the link. The present studies deepen our understanding of narcissism, impulsive buying, and their interrelationship.

  5. Narcissism predicts impulsive buying: phenotypic and genetic evidence

    Science.gov (United States)

    Cai, Huajian; Shi, Yuanyuan; Fang, Xiang; Luo, Yu L. L.

    2015-01-01

    Impulsive buying makes billions of dollars for retail businesses every year, particularly in an era of thriving e-commerce. Narcissism, characterized by impulsivity and materialism, may serve as a potential antecedent to impulsive buying. To test this hypothesis, two studies examined the relationship between narcissism and impulsive buying. In Study 1, we surveyed an online sample and found that while adaptive narcissism was not correlated with impulsive buying, maladaptive narcissism was significantly predictive of the impulsive buying tendency. By investigating 304 twin pairs, Study 2 showed that global narcissism and its two components, adaptive and maladaptive narcissism, as well as the impulsive buying tendency were heritable. The study found, moreover, that the connections between global narcissism and impulsive buying, and between maladaptive narcissism and impulsive buying were genetically based. These findings not only establish a link between narcissism and impulsive buying but also help to identify the origins of the link. The present studies deepen our understanding of narcissism, impulsive buying, and their interrelationship. PMID:26217251

  6. Play and Divergent Problem Solving: Evidence Supporting a Reciprocal Relationship.

    Science.gov (United States)

    Wyver, Shirley R.; Spence, Susan H.

    1999-01-01

    Three studies examined the relationship between specific forms of preschoolers' social and pretend play and divergent/convergent problem solving. Naturalistic and experimental designs were used to provide clearer account of relationship and to challenge assumption of single direction of influence. Results support complex reciprocal causality model…

  7. Genetic monitoring of supportive breeding in brown trout ( Salmo trutta L.), using microsatellite DNA markers

    DEFF Research Database (Denmark)

    Hansen, Michael Møller; Eg Nielsen, Einar; Ruzzante, D.E.;

    2000-01-01

    Stocking with offspring of local wild fish, so-called supportive breeding, is often advocated as an alternative to stocking domesticated fish. However, it is important to ensure that supportive breeding does not result in inbreeding and loss of genetic variability. We analysed eight microsatellite...

  8. Recent evidence for evolution of the genetic code

    Science.gov (United States)

    Osawa, S.; Jukes, T. H.; Watanabe, K.; Muto, A.

    1992-01-01

    The genetic code, formerly thought to be frozen, is now known to be in a state of evolution. This was first shown in 1979 by Barrell et al. (G. Barrell, A. T. Bankier, and J. Drouin, Nature [London] 282:189-194, 1979), who found that the universal codons AUA (isoleucine) and UGA (stop) coded for methionine and tryptophan, respectively, in human mitochondria. Subsequent studies have shown that UGA codes for tryptophan in Mycoplasma spp. and in all nonplant mitochondria that have been examined. Universal stop codons UAA and UAG code for glutamine in ciliated protozoa (except Euplotes octacarinatus) and in a green alga, Acetabularia. E. octacarinatus uses UAA for stop and UGA for cysteine. Candida species, which are yeasts, use CUG (leucine) for serine. Other departures from the universal code, all in nonplant mitochondria, are CUN (leucine) for threonine (in yeasts), AAA (lysine) for asparagine (in platyhelminths and echinoderms), UAA (stop) for tyrosine (in planaria), and AGR (arginine) for serine (in several animal orders) and for stop (in vertebrates). We propose that the changes are typically preceded by loss of a codon from all coding sequences in an organism or organelle, often as a result of directional mutation pressure, accompanied by loss of the tRNA that translates the codon. The codon reappears later by conversion of another codon and emergence of a tRNA that translates the reappeared codon with a different assignment. Changes in release factors also contribute to these revised assignments. We also discuss the use of UGA (stop) as a selenocysteine codon and the early history of the code.

  9. Recent evidence for evolution of the genetic code

    Science.gov (United States)

    Osawa, S.; Jukes, T. H.; Watanabe, K.; Muto, A.

    1992-01-01

    The genetic code, formerly thought to be frozen, is now known to be in a state of evolution. This was first shown in 1979 by Barrell et al. (G. Barrell, A. T. Bankier, and J. Drouin, Nature [London] 282:189-194, 1979), who found that the universal codons AUA (isoleucine) and UGA (stop) coded for methionine and tryptophan, respectively, in human mitochondria. Subsequent studies have shown that UGA codes for tryptophan in Mycoplasma spp. and in all nonplant mitochondria that have been examined. Universal stop codons UAA and UAG code for glutamine in ciliated protozoa (except Euplotes octacarinatus) and in a green alga, Acetabularia. E. octacarinatus uses UAA for stop and UGA for cysteine. Candida species, which are yeasts, use CUG (leucine) for serine. Other departures from the universal code, all in nonplant mitochondria, are CUN (leucine) for threonine (in yeasts), AAA (lysine) for asparagine (in platyhelminths and echinoderms), UAA (stop) for tyrosine (in planaria), and AGR (arginine) for serine (in several animal orders) and for stop (in vertebrates). We propose that the changes are typically preceded by loss of a codon from all coding sequences in an organism or organelle, often as a result of directional mutation pressure, accompanied by loss of the tRNA that translates the codon. The codon reappears later by conversion of another codon and emergence of a tRNA that translates the reappeared codon with a different assignment. Changes in release factors also contribute to these revised assignments. We also discuss the use of UGA (stop) as a selenocysteine codon and the early history of the code.

  10. Division of the genus Borrelia into two genera (corresponding to Lyme disease and relapsing fever groups) reflects their genetic and phenotypic distinctiveness and will lead to a better understanding of these two groups of microbes (Margos et al. (2016) There is inadequate evidence to support the division of the genus Borrelia. Int. J. Syst. Evol. Microbiol. doi: 10.1099/ijsem.0.001717).

    Science.gov (United States)

    Barbour, Alan G; Adeolu, Mobolaji; Gupta, Radhey S

    2017-01-27

    This rebuttal Letter responds to a Letter in the IJSEM by Margos et al. challenging division of the genus Borrelia into two genera. We discuss here point-by-point the issues raised by Margos et al. and show that much of their criticism is unfounded and in several cases based on misreading of the presented results. We summarize here the extensive evidence based on genomic, genetic and phenotypic properties showing that the members of the family Borreliaceae (containing mainly the genus Borrelia) comprises two distinct and cohesive groups of microbes, differing in diseases they cause and other phenotypes. Prior to the proposed division, Borrelia spp. causing Lyme disease (LD) were already functionally treated as a distinct group, referred to as "B. burgdorferi sensu lato" to distinguish them from the other cluster of Borrelia spp. which includes all known species causing relapsing fever (RF). With the more explicit division of Borreliaceae species into two genus level groups, which are distinguishable from each other based on numerous unique genetic and molecular characteristics, the attention can now be focused on the biological significance of different molecular characteristics differentiating the two groups. The clear distinction of the LD and the RF groups of microbes based on numerous highly reliable markers, which are expected to be present even in uncharacterized members of these two groups, should aid in the improved diagnosis as well treatment of both these diseases, which is hindered by the conflation of a common name for agents causing two different types of diseases.

  11. Impact of Behavioral Genetic Evidence on the Adjudication of Criminal Behavior

    OpenAIRE

    Appelbaum, Paul S.; Scurich, Nicholas

    2014-01-01

    Recent advances in behavioral genetics suggest a modest relationship among certain gene variants, early childhood experiences, and criminal behavior. Although scientific research examining this link is still at an early stage, genetic data are already being introduced in criminal trials. However, the extent to which such evidence is likely to affect jurors’ decisions has not previously been explored. In the present study, a representative sample of the U.S. population (n=250) received a vigne...

  12. Self Directed Support and People with Learning Disabilities: A Review of the Published Research Evidence

    Science.gov (United States)

    Harkes, Mary Anne; Brown, Michael; Horsburgh, Dorothy

    2014-01-01

    A systematic literature review was undertaken to determine the evidence base underpinning the strategy of Self Directed Support and whether evidence demonstrates that this policy is accessible to everyone with a learning disability. It also sought to identify whether there were any barriers to Self Directed Support for people with severe or…

  13. Changing behavior: evidence based practice supporting hair removal with clippers.

    Science.gov (United States)

    Waddington, Carolyn

    2008-01-01

    Evidence based practice demonstrates using clippers immediately before surgery, when perioperative hair removal is necessary, results in the fewest surgical site infections (Kjonniksen, Andersen, Sondenaa, & Segadal, 2002). In addition, one of The Joint Commission's national patient safety goals for 2008 is "to reduce the risk of healthcare associated infections" (The Joint Commission, 2008, Goal 7). Therefore, a project was undertaken to change perioperative nursing care in a large teaching hospital from using razors for hair removal in the perioperative setting to using clippers. Change is difficult and encompasses many interdisciplinary areas. A description of the process of utilizing evidence to change behavior in the perioperative setting and its outcomes will be provided in this paper. Klevens, et al., (2007) reported that 22% of healthcare associated infections were the result of surgical site infections (SSIs). Changing practice to utilizing clippers for hair removal is an extrinsic factor of SSIs that can be easily modified. Otorhinolaryngology (ORL) patients that require hair removal before surgery (i.e., acoustic neuroma, cranial-facial resections, and head and neck reconstruction) may benefit from this change in practice. Perioperative nurses are in a prime position to reduce the incidence of SSIs in ORL patients.

  14. Health facilities humanisation: design guidelines supported by statistical evidence.

    Science.gov (United States)

    Bosia, Daniela; Marino, Donatella; Peretti, Gabriella

    2016-01-01

    Healthcare building humanisation is currently a widely debated issue and the development of patient centered and evidence based design is growing worldwide. Many international health organizations and researchers understand the importance of Patient Centred Design and leading architects incorporate it into the design process. In Italy this design approach is still at an early stage. The article refers to research commissioned by the Italian Health Ministry and carried out by R. Del Nord (Università degli Studi di Firenze) and G. Peretti (Politecnico di Torino) with their collaborators. The scope of the research was the definition of design guidelines for healthcare facilities humanisation. The methodology framework adopted is the well established need and performance approach in architectural design. The article deals with the results of statistical investigations for the definition and ranking of users' needs and the consistent expression of their requirements. The investigations were carried out with the cooperation of psychologists of the Università degli Studi di Torino and researchers of the Università degli Studi di Cagliari. The proposed evaluation system allows ranking of health facilities according to the level of humanisation achieved. The statistical investigation evidence collected allowed the definition of humanisation design guidelines for health-care facilities and for the assessment of their specific level of humanisation.

  15. Communicating statin evidence to support shared decision-making.

    Science.gov (United States)

    Barrett, Bruce; Ricco, Jason; Wallace, Margaret; Kiefer, David; Rakel, Dave

    2016-04-06

    The practice of clinical medicine rests on a foundation of ethical principles as well as scientific knowledge. Clinicians must artfully balance the principle of beneficence, doing what is best for patients, with autonomy, allowing patients to make their own well-informed health care decisions. The clinical communication process is complicated by varying degrees of confidence in scientific evidence regarding patient-oriented benefits, and by the fact that most medical options are associated with possible harms as well as potential benefits. Evidence-based clinical guidelines often neglect patient-oriented issues involved with the thoughtful practice of shared decision-making, where individual values, goals, and preferences should be prioritized. Guidelines on the use of statin medications for preventing cardiovascular events are a case in point. Current guidelines endorse the use of statins for people whose 10-year risk of cardiovascular events is as low as 7.5%. Previous guidelines set the 10-year risk benchmark at 20%. Meta-analysis of randomized trials suggests that statins can reduce cardiovascular event rates by about 25%, bringing 10-year risk from 7.5 to 5.6%, for example, or from 20 to 15%. Whether or not these benefits should justify the use of statins for individual patients depends on how those advantages are valued in comparison with disadvantages, such as side effect risks, and with inconveniences associated with taking a pill each day and visiting clinicians and laboratories regularly. Whether or not the overall benefit-harm balance justifies the use of a medication for an individual patient cannot be determined by a guidelines committee, a health care system, or even the attending physician. Instead, it is the individual patient who has a fundamental right to decide whether or not taking a drug is worthwhile. Researchers and professional organizations should endeavor to develop shared decision-making tools that provide up-to-date best evidence in

  16. Perioperative glucocorticosteroid supplementation is not supported by evidence.

    Science.gov (United States)

    de Lange, Dylan W; Kars, Marleen

    2008-10-01

    Ever since the first descriptions of adrenal insufficiency following exogenous supplementation physicians dread to abolish perioperative glucocorticosteroid supplementation. Now, 55 years after the first publications we can challenge those first reports. However, these cases have resulted in the supplementation of supraphysiological doses of glucocorticosteroids to patients that use exogenous corticosteroids: the so-called perioperative glucocorticosteroid supplementation or "(gluco)corticosteroid stress scheme". It is very questionable whether a dose that exceeds the normal daily production of 5.7 mg cortisol per square meter of body surface area is necessary to prevent perioperative hypotension. Retrospective, prospective and randomised studies, though all methodologically flawed, are discussed and show that continuation of the "basal" amount of glucocorticosteroids is sufficient to counterbalance surgical stress. The current and rather defensive strategy of perioperative supraphysiological glucocorticosteroid supplementation is not embedded in medical evidence. Additionally, high doses of glucocorticosteroids have disadvantages that should not be ignored.

  17. Species-specific markers provide molecular genetic evidence for natural introgression of bullhead catfishes in Hungary

    Science.gov (United States)

    Béres, Beatrix; Kánainé Sipos, Dóra; Müller, Tamás; Staszny, Ádám; Farkas, Milán; Bakos, Katalin; Urbányi, Béla

    2017-01-01

    Since three bullhead catfish species were introduced to Europe in the late 19th century, they have spread to most European countries. In Hungary, the brown bullhead (Ameiurus nebulosus) was more widespread in the 1970s–1980s, but the black bullhead (Ameiurus melas) has gradually supplanted since their second introduction in 1980. The introgressive hybridization of the two species has been presumed based on morphological examinations, but it has not previously been supported by genetic evidence. In this study, 11 different Hungarian habitats were screened with a new species-specific nuclear genetic, duplex PCR based, marker system to distinguish the introduced catfish species, Ameiurus nebulosus, Ameiurus melas, and Ameiurus natalis, as well as the hybrids of the first two. More than 460 specimens were analyzed using the above markers and additional mitochondrial sequence analyses were also conducted on >25% of the individuals from each habitat sampled. The results showed that only 7.9% of the specimens from two habitats belonged to Ameiurus nebulosus, and 92.1% were classified as Ameiurus melas of all habitats, whereas the presence of Ameiurus natalis was not detected. Two specimens (>0.4%) showed the presence of both nuclear genomes and they were identified as hybrids of Ameiurus melas and Ameiurus nebulosus. An additional two individuals showed contradicting results from the nuclear and mitochondrial assays as a sign of a possible footprint of introgressive hybridization that might have happened two or more generations before. Surprisingly, the level of hybridization was much smaller than expected based on the analyses of the North American continent’s indigenous stock from the hybrid zones. This phenomenon has been observed in several invasive fish species and it is regarded as an added level of complexity in the management of their rapid adaptation. PMID:28265489

  18. Genetic evidence for inhibition of bacterial division protein FtsZ by berberine.

    Directory of Open Access Journals (Sweden)

    Jaroslaw M Boberek

    Full Text Available BACKGROUND: Berberine is a plant alkaloid that is widely used as an anti-infective in traditional medicine. Escherichia coli exposed to berberine form filaments, suggesting an antibacterial mechanism that involves inhibition of cell division. Berberine is a DNA ligand and may induce filamentation through induction of the SOS response. Also, there is biochemical evidence for berberine inhibition of the cell division protein FtsZ. Here we aimed to assess possible berberine mechanism(s of action in growing bacteria using genetics tools. METHODOLOGY/PRINCIPAL FINDINGS: First, we tested whether berberine inhibits bacterial growth through DNA damage and induction of the SOS response. The SOS response induced by berberine was much lower compared to that induced by mitomycin C in an SOS response reporter strain. Also, cell filamentation was observed in an SOS-negative E. coli strain. To test whether berberine inhibits FtsZ, we assessed its effects on formation of the cell division Z-rings, and observed a dramatic reduction in Z-rings in the presence of berberine. We next used two different strategies for RNA silencing of ftsZ and both resulted in sensitisation of bacteria to berberine, visible as a drop in the Minimum Inhibitory Concentration (MIC. Furthermore, Fractional Inhibitory Concentration Indices (FICIs showed a high level of synergy between ftsZ silencing and berberine treatment (FICI values of 0.23 and 0.25 for peptide nucleic acid- and expressed antisense RNA-based silencing of ftsZ, respectively. Finally, over-expression of ftsZ led to a mild rescue effect in berberine-treated cells. CONCLUSIONS: The results argue against DNA binding as the primary mechanism of action of berberine and support the hypothesis that its antibacterial properties are due to inhibition of the cell division protein FtsZ. In addition, the genetic approach used here provides a means to rapidly test the activity of other putative FtsZ inhibitors.

  19. Evidence for Evolution as Support for Big Bang

    Science.gov (United States)

    Gopal-Krishna

    1997-12-01

    With the exception of ZERO, the concept of BIG BANG is by far the most bizarre creation of the human mind. Three classical pillars of the Big Bang model of the origin of the universe are generally thought to be: (i) The abundances of the light elements; (ii) the microwave back-ground radiation; and (iii) the change with cosmic epoch in the average properties of galaxies (both active and non-active types). Evidence is also mounting for redshift dependence of the intergalactic medium, as discussed elsewhere in this volume in detail. In this contribution, I endeavour to highlight a selection of recent advances pertaining to the third category. The widely different levels of confidence in the claimed observational constraints in the field of cosmology can be guaged from the following excerpts from two leading astrophysicists: "I would bet odds of 10 to 1 on the validity of the general 'hot Big Bang' concept as a description of how our universe has evolved since it was around 1 sec. old" -M. Rees (1995), in 'Perspectives in Astrophysical Cosmology' CUP. "With the much more sensitive observations available today, no astrophysical property shows evidence of evolution, such as was claimed in the 1950s to disprove the Steady State theory" -F. Hoyle (1987), in 'Fifty years in cosmology', B. M. Birla Memorial Lecture, Hyderabad, India. The burgeoning multi-wavelength culture in astronomy has provided a tremendous boost to observational cosmology in recent years. We now proceed to illustrate this with a sequence of examples which reinforce the picture of an evolving universe. Also provided are some relevant details of the data used in these studies so that their scope can be independently judged by the readers.

  20. Periodontal self-care: evidence-based support.

    Science.gov (United States)

    Drisko, Connie L

    2013-06-01

    The focus of this review on periodontal self-care will be based primarily on the results of systematic reviews and meta-analyses. Based on the evidence gleaned from systematic reviews, it is notable that most authors of these reviews commented on the relatively small number of trials that could pass the quality-assessment inclusion in the systematic review. Interproximal devices, namely interproximal brushes, are more effective for reducing interproximal plaque and gingivitis than are flossing or brushing alone. Some added benefit may be attributed to the use of rotational oscillation powered toothbrushes over manual toothbrushes. Recommendations by the dentist and dental hygienist to add one or more chemotherapeutic agents to the typical oral hygiene regimen has been shown, in systematic reviews and meta-analyses, to reduce the level of plaque and gingival inflammation in patients. Oral irrigation does not seem to reduce visible plaque but does tend to reduce inflammation, determined by the presence of bleeding on probing, the gingival index score and probing depth measurements. To date, high-quality evidence is either lacking or weak in some areas regarding the efficacy of self-care and periodontal disease. Low educational attainment, smoking and socio-economic status are related to adverse periodontal health outcomes. Variation in self-esteem, self-confidence and perfectionism are associated with oral health status and oral health behaviors. Better understanding of the psychological factors associated with oral hygiene would be of benefit in further developing strategies to help patients improve their oral hygiene in addition to helping professionals design better programs on prevention and education.

  1. Health Awareness Days: Sufficient Evidence to Support the Craze?

    Science.gov (United States)

    Roman, Leah A.

    2015-01-01

    Health awareness initiatives are a ubiquitous intervention strategy. Nearly 200 health awareness days, weeks, and months are on the US National Health Observances calendar, and more than 145 awareness day bills have been introduced in Congress since 2005. We contend that health awareness days are not held to appropriate scrutiny given the scale at which they have been embraced and are misaligned with research on the social determinants of health and the tenets of ecological models of health promotion. We examined health awareness days from a critical public health perspective and offer empirically supported recommendations to advance the intervention strategy. If left unchecked, health awareness days may do little more than reinforce ideologies of individual responsibility and the false notion that adverse health outcomes are simply the product of misinformed behaviors. PMID:25879148

  2. Supporting the education evidence portal via text mining

    Science.gov (United States)

    Ananiadou, Sophia; Thompson, Paul; Thomas, James; Mu, Tingting; Oliver, Sandy; Rickinson, Mark; Sasaki, Yutaka; Weissenbacher, Davy; McNaught, John

    2010-01-01

    The UK Education Evidence Portal (eep) provides a single, searchable, point of access to the contents of the websites of 33 organizations relating to education, with the aim of revolutionizing work practices for the education community. Use of the portal alleviates the need to spend time searching multiple resources to find relevant information. However, the combined content of the websites of interest is still very large (over 500 000 documents and growing). This means that searches using the portal can produce very large numbers of hits. As users often have limited time, they would benefit from enhanced methods of performing searches and viewing results, allowing them to drill down to information of interest more efficiently, without having to sift through potentially long lists of irrelevant documents. The Joint Information Systems Committee (JISC)-funded ASSIST project has produced a prototype web interface to demonstrate the applicability of integrating a number of text-mining tools and methods into the eep, to facilitate an enhanced searching, browsing and document-viewing experience. New features include automatic classification of documents according to a taxonomy, automatic clustering of search results according to similar document content, and automatic identification and highlighting of key terms within documents. PMID:20643679

  3. Automatic classification of sentences to support Evidence Based Medicine

    Directory of Open Access Journals (Sweden)

    Martinez David

    2011-03-01

    Full Text Available Abstract Aim Given a set of pre-defined medical categories used in Evidence Based Medicine, we aim to automatically annotate sentences in medical abstracts with these labels. Method We constructed a corpus of 1,000 medical abstracts annotated by hand with specified medical categories (e.g. Intervention, Outcome. We explored the use of various features based on lexical, semantic, structural, and sequential information in the data, using Conditional Random Fields (CRF for classification. Results For the classification tasks over all labels, our systems achieved micro-averaged f-scores of 80.9% and 66.9% over datasets of structured and unstructured abstracts respectively, using sequential features. In labeling only the key sentences, our systems produced f-scores of 89.3% and 74.0% over structured and unstructured abstracts respectively, using the same sequential features. The results over an external dataset were lower (f-scores of 63.1% for all labels, and 83.8% for key sentences. Conclusions Of the features we used, the best for classifying any given sentence in an abstract were based on unigrams, section headings, and sequential information from preceding sentences. These features resulted in improved performance over a simple bag-of-words approach, and outperformed feature sets used in previous work.

  4. Evidence supporting vertical transmission of Salmonella in dairy cattle.

    Science.gov (United States)

    Hanson, D L; Loneragan, G H; Brown, T R; Nisbet, D J; Hume, M E; Edrington, T S

    2016-04-01

    We set out to investigate whether Salmonella enterica could be recovered from various tissues of viable neonatal calves immediately following parturition. Eleven samples were aseptically collected from each of 20 calves and consisted of both left and right subiliac and prescapular lymph nodes (LN), mesenteric LN, spleen and liver, as well as intestinal tissue (including luminal contents) from the small intestine, caecum, spiral colon and rectum. In addition, a faecal sample was collected from 19 of the dams. Salmonella was recovered from at least one sample from 10 of the 20 neonates. Across all calves, Salmonella was recovered from 12·7% of all samples and from LN in particular, Salmonella was recovered from 10·0%, 5·0%, and 5·0% of subiliac, prescapular, and mesenteric LN, respectively. Within calves, Salmonella was recovered from 0% to 73% of samples and across tissues, estimates of Salmonella prevalence were greatest in the caecum (30%) but was never recovered from the right pre-scapular LN. These data provide evidence of vertical transmission from a dam to her fetus such that viable calves are born already infected and thereby not requiring faecal-oral exposure for transmission. This new knowledge ought to challenge - or at least add to - existing paradigms of Salmonella transmission dynamics within cattle herds.

  5. Evidence that genetic variation in the oxytocin receptor (OXTR) gene influences social cognition in ADHD.

    Science.gov (United States)

    Park, J; Willmott, M; Vetuz, G; Toye, C; Kirley, A; Hawi, Z; Brookes, K J; Gill, M; Kent, L

    2010-05-30

    Some children with ADHD also have social and communication difficulties similar to those seen in children with autistic spectrum disorders and this may be due to shared genetic liability. As the oxytocin receptor (OXTR) gene has been implicated in social cognition and autistic spectrum disorders, this study investigated whether OXTR polymorphisms previously implicated in autism were associated with ADHD and whether they influenced OXTR mRNA expression in 27 normal human amygdala brain samples. The family-based association sample consisted of 450 DSM-IV diagnosed ADHD probands and their parents. Although there was no association with the ADHD phenotype, an association with social cognitive impairments in a subset of the ADHD probands (N=112) was found for SNP rs53576 (F=5.24, p=0.007) with post-hoc tests demonstrating that the AA genotype was associated with better social ability compared to the AG genotype. Additionally, significant association was also found for rs13316193 (F=3.09, p=0.05) with post-hoc tests demonstrating that the CC genotype was significantly associated with poorer social ability than the TT genotype. No significant association between genotype and OXTR mRNA expression was found. This study supports previous evidence that the OXTR gene is implicated in social cognition.

  6. Broad support evident for the emerging specialty of orofacial pain.

    Science.gov (United States)

    Talley, R L; Fricton, J R; Okeson, J P

    2000-01-01

    The emerging field of Orofacial Pain is being considered by the American Dental Association for full status as a new dental specialty. Many recent advances in the neuroscience of orofacial pain have lead to treatments by orofacial pain dentists that provide significant relief for patients with chronic orofacial pain disorders. However, access to this care has been limited leaving many patients to continue to suffer. Subsequently, recent efforts to improve this by developing the field into a specialty have shown broad support among dentists and increased awareness of the benefits this field can provide for dentists and their patients. A recent survey of 805 individuals in the general population who reported having a persistent pain disorder revealed that more than four out of 10 people have yet to find adequate relief, saying their pain is out of control-despite having the pain for more than 5 years and switching doctors at least once. "This survey suggests that there are millions of people living with severe uncontrolled pain," says Russell Portenoy, MD, President of the American Pain Society. "This is a great tragedy. Although not everyone can be helped, it is very likely that most of these patients could benefit if provided with state-of-the-art therapies and improved access to pain specialists when needed." (1). Development of the field of Orofacial Pain into a dental specialty has been motivated primarily by this issue; patients with complex chronic orofacial pain disorders have not been historically treated well by any discipline of health care. Recent studies of chronic orofacial pain patients have found that these patients have a high number of previous clinicians and have endured many years with pain prior to seeing an orofacial pain dentist (2) (Fig. 1). Complex pain patients and the clinicians who see them are often confused about whom they should consult for relief of the painful disorder. Treatment for these patients within the existing structure of

  7. Russians in treatment: the evidence base supporting cultural adaptations.

    Science.gov (United States)

    Jurcik, Tomas; Chentsova-Dutton, Yulia E; Solopieieva-Jurcikova, Ielyzaveta; Ryder, Andrew G

    2013-07-01

    Despite large waves of westward migration, little is known about how to adapt services to assist Russian-speaking immigrants. In an attempt to bridge the scientist-practitioner gap, the current review synthesizes diverse literatures regarding what is known about immigrants from the Former Soviet Union. Relevant empirical studies and reviews from cross-cultural and cultural psychology, sociology, psychiatric epidemiology, mental health, management, linguistics, history, and anthropology literature were synthesized into three broad topics: culture of origin issues, common psychosocial challenges, and clinical recommendations. Russian speakers probably differ in their form of collectivism, gender relations, emotion norms, social support, and parenting styles from what many clinicians are familiar with and exhibit an apparent paradoxical mix of modern and traditional values. While some immigrant groups from the Former Soviet Union are adjusting well, others have shown elevated levels of depression, somatization, and alcoholism, which can inform cultural adaptations. Testable assessment and therapy adaptations for Russians were outlined based on integrating clinical and cultural psychology perspectives. © 2013 Wiley Periodicals, Inc.

  8. The Ganong paradigm: Converging evidence supporting initial phoneme weighting

    Science.gov (United States)

    Tracy, Erik C.; Pitt, Mark A.

    2003-10-01

    In the present experiment we investigate whether the initial phoneme is given more weight in word recognition [W. D. Marslen-Wilson and A. Welsh, Cognit. Psych. 10, 29-63 (1978)] or if all phonemes in a word are weighted equally [C. M. Connine, D. G. Blasko, and D. Titone, J. Mem. Lang. 32, 193-210 (1993)]. Using the Ganong paradigm [W. F. Ganong, JEP:HPP. 6, 110-125 (1980)], participants were instructed to categorize a final ambiguous fricative in the target items, which included both words and pseudowords. Pseudowords were created by changing either the initial or a medial phoneme within the words. For example, the word diminish was altered to create the pseudowords timinish and dimimish. In addition, initial and medial phonemes were altered by either one or three distinctive features. The differences in the labeling of the final ambiguous fricative in the target items led to the conclusion that the initial phoneme is weighted more heavily. [Work supported by NIDCD.

  9. Understanding the cognitive and genetic underpinnings of procrastination: Evidence for shared genetic influences with goal management and executive function abilities.

    Science.gov (United States)

    Gustavson, Daniel E; Miyake, Akira; Hewitt, John K; Friedman, Naomi P

    2015-12-01

    Previous research has suggested that individual differences in procrastination are tied to everyday goal-management abilities, but little research has been conducted on specific cognitive abilities that may underlie tendencies for procrastination, such as executive functions (EFs). In this study, we used behavioral genetics methodology to investigate 2 hypotheses about the relationships between procrastination and EF ability: (a) that procrastination is negatively correlated with general EF ability, and (b) that this relationship is due to the genetic components of procrastination that are most related to other everyday goal-management abilities. The results confirmed both of these hypotheses. Procrastination was related to worse general EF ability at both the phenotypic and genetic levels, and this relationship was due to the component of procrastination shared with self-report measures of everyday goal-management failures. These results were observed even after controlling for potential self-report biases stemming from the urge to respond in a socially desirable manner. Together, these findings provide strong evidence for growing theories of procrastination emphasizing the importance of goal-related cognitive abilities and further highlight important genetic influences that underlie procrastination. (c) 2015 APA, all rights reserved).

  10. Tourette's Disorder: Genetic Update, Neurological Correlates, and Evidence-Based Interventions

    Science.gov (United States)

    Phelps, LeAdelle

    2008-01-01

    This article provides an update of the search for genetic markers related to Tourette's Disorder. The probable neurophysiology of the disorder is reviewed. Frequently prescribed medications are related to the probable biological bases of the disorder. Behavioral interventions and assessment tools are examined. It is concluded that evidence based…

  11. Genetic evidence for causal relationships between maternal obesity-related traits and birth weight

    NARCIS (Netherlands)

    A.W.R. Tyrrell; R.C. Richmond (Rebecca C.); T.M. Palmer (Tom); B. Feenstra (Bjarke); J. Rangarajan (Janani); S. Metrustry (Sarah); A. Cavadino (Alana); L. Paternoster (Lavinia); L.L. Armstrong (Loren L.); N.M.G. De Silva (N. Maneka G.); A.R. Wood (Andrew); M. Horikoshi (Momoko); F. Geller (Frank); R. Myhre (Ronny); J.P. Bradfield (Jonathan); E. Kreiner-Møller (Eskil); I. Huikari (Ille); J.N. Painter (Jodie N.); J.J. Hottenga (Jouke Jan); C. Allard (Catherine); D. Berry (Diane); L. Bouchard (Luigi); S. Das; D.M. Evans (David); H. Hakonarson (Hakon); M.G. Hayes (M. Geoffrey); J. Heikkinen (Jani); A. Hofman (Albert); B.A. Knight (Bridget); P.A. Lind (Penelope); M.I. McCarthy (Mark); G. Mcmahon (George); S.E. Medland (Sarah Elizabeth); M. Melbye (Mads); A.P. Morris (Andrew); M. Nodzenski (Michael); C. Reichetzeder (Christoph); S.M. Ring (Susan); S. Sebert (Sylvain); V. Sengpiel (Verena); T.I.A. Sørensen (Thorkild); G.A.H.M. Willemsen (Gonneke); E.J.C. de Geus (Eco); N.G. Martin (Nicholas); T.D. Spector (Timothy); C. Power (Christine); M.-R. Jarvelin (Marjo-Riitta); H. Bisgaard (Hans); S.F. Grant; C. Nohr (Christian); V.W.V. Jaddoe (Vincent); B. Jacobsson (Bo); J.C. Murray (Jeffrey C.); B. Hocher (Berthold); A.T. Hattersley (Andrew); D.M. Scholtens (Denise M.); G.D. Smith; M.-F. Hivert (Marie-France); J.F. Felix (Janine); E. Hypponen (Elina); W.L. Lowe Jr. (William); T.M. Frayling (Timothy); D.A. Lawlor (Debbie); R.M. Freathy (Rachel)

    2016-01-01

    textabstractIMPORTANCE Neonates born to overweight or obese women are larger and at higher risk of birth complications. Many maternal obesity-related traits are observationally associated with birth weight, but the causal nature of these associations is uncertain. OBJECTIVE To test for genetic evide

  12. The theories underpinning rational emotive behaviour therapy: where's the supportive evidence?

    Science.gov (United States)

    MacInnes, Douglas

    2004-08-01

    This paper examines the underlying theoretical philosophy of one of the most widely used cognitive behaviour therapies, rational emotive behaviour therapy. It examines whether two central theoretical principles are supported by research evidence: firstly, that irrational beliefs lead to dysfunctional emotions and inferences and that rational beliefs lead to functional emotions and inferences and, secondly, that demand beliefs are the primary core irrational belief. The established criteria for evaluating the efficacy of the theories are detailed and used to evaluate the strength of evidence supporting these two assumptions. The findings indicate there is limited evidence to support these theories. Copyright 2004 Elsevier Ltd.

  13. Pathology supported genetic testing and treatment of cardiovascular disease in middle age for prevention of Alzheimer's disease.

    Science.gov (United States)

    Kotze, Maritha J; van Rensburg, Susan J

    2012-09-01

    Chronic, multi-factorial conditions caused by a complex interaction between genetic and environmental risk factors frequently share common disease mechanisms, as evidenced by an overlap between genetic risk factors for cardiovascular disease (CVD) and Alzheimer's disease (AD). Single nucleotide polymorphisms (SNPs) in several genes including ApoE, MTHFR, HFE and FTO are known to increase the risk of both conditions. The E4 allele of the ApoE polymorphism is the most extensively studied risk factor for AD and increases the risk of coronary heart disease by approximately 40%. It furthermore displays differential therapeutic responses with use of cholesterol-lowering statins and acetylcholinesterase inhibitors, which may also be due to variation in the CYP2D6 gene in some patients. Disease expression may be triggered by gene-environment interaction causing conversion of minor metabolic abnormalities into major brain disease due to cumulative risk. A growing body of evidence supports the assessment and treatment of CVD risk factors in midlife as a preventable cause of cognitive decline, morbidity and mortality in old age. In this review, the concept of pathology supported genetic testing (PSGT) for CVD is described in this context. PSGT combines DNA testing with biochemical measurements to determine gene expression and to monitor response to treatment. The aim is to diagnose treatable disease subtypes of complex disorders, facilitate prevention of cumulative risk and formulate intervention strategies guided from the genetic background. CVD provides a model to address the lifestyle link in most chronic diseases with a genetic component. Similar preventative measures would apply for optimisation of heart and brain health.

  14. Evidence Supporting the Uptake and Genomic Incorporation of Environmental DNA in the “Ancient Asexual” Bdelloid Rotifer Philodina roseola

    Directory of Open Access Journals (Sweden)

    Olaf R. P. Bininda-Emonds

    2016-09-01

    Full Text Available Increasing evidence suggests that bdelloid rotifers regularly undergo horizontal gene transfer, apparently as a surrogate mechanism of genetic exchange in the absence of true sexual reproduction, in part because of their ability to withstand desiccation. We provide empirical support for this latter hypothesis using the bdelloid Philodina roseola, which we demonstrate to readily internalize environmental DNA in contrast to a representative monogonont rotifer (Brachionus rubens, which, like other monogononts, is facultative sexual and cannot withstand desiccation. In addition, environmental DNA that was more similar to the host DNA was retained more often and for a longer period of time. Indirect evidence (increased variance in the reproductive output of the untreated F1 generation suggests that environmental DNA can be incorporated into the genome during desiccation and is thus heritable. Our observed fitness effects agree with sexual theory and also occurred when the animals were desiccated in groups (thereby acting as DNA donors, but not individually, indicating the mechanism could occur in nature. Thus, although DNA uptake and its genomic incorporation appears proximally related to anhydrobiosis in bdelloids, it might also facilitate accidental genetic exchange with closely related taxa, thereby maintaining higher levels of genetic diversity than is otherwise expected for this group of “ancient asexuals”.

  15. Evidence of genetic influence on the flowering pattern of Ficus microcarpa

    Science.gov (United States)

    Yang, Hui-Wen; Bain, Anthony; Garcia, Marjorie; Chou, Lien-Siang; Kjellberg, Finn

    2014-05-01

    Flowering patterns result from the interactions between genetic and environmental factors. While the genetic basis for flowering time variation in commercial plants is often well understood, few studies have been conducted to investigate these patterns in plants without economic importance. Ficus microcarpa is a commonly introduced horticultural fig tree. Asynchrony in syconium development and the initiation, frequency, and size of crops may affect its fitness as well as the success of mutualism with its pollinating wasps. In order to identify genetically determined patterns in the flowering traits in F. microcarpa, a 14-month census was taken on the flowering characteristics of 28 trees growing in close proximity along an urban street in Taipei, Taiwan. Weekly surveys were taken on 7 characteristics: crop number, syconia per branch, crop asynchrony, as well as flowering onset and seed development duration for both the spring and summer crops. Post-census genotyping at microsatellite loci distinguished 16 genetic groups (5 clonal groups and 11 non-clone trees). All crop characteristics presented higher variation across different genotype groups than within groups except for seed development duration. We found no evidence of adjacency effects or spatial auto-correlation of flowering traits. The study offers the first evidence of genetic variations in the flowering patterns in a species of Ficus. These findings lend insight into the adaptive characteristics that potentially facilitate the local establishment of F. microcarpa in new locations.

  16. Supporting Learning of High-School Genetics Using Authentic Research Practices: The Teacher's Role

    Science.gov (United States)

    Gelbart, Hadas; Yarden, Anat

    2011-01-01

    In this study we describe the support provided by a biology teacher during learning using a web-based research simulation that makes use of authentic research practices in genetics, including the use of a heuristic strategy to compare mutated and normal versions of a character at all the organisational levels. Authentic scientific practices…

  17. Supporting Learning of High-School Genetics Using Authentic Research Practices: The Teacher's Role

    Science.gov (United States)

    Gelbart, Hadas; Yarden, Anat

    2011-01-01

    In this study we describe the support provided by a biology teacher during learning using a web-based research simulation that makes use of authentic research practices in genetics, including the use of a heuristic strategy to compare mutated and normal versions of a character at all the organisational levels. Authentic scientific practices…

  18. Awareness and Support of Release of Genetically Modified “Sterile” Mosquitoes, Key West, Florida, USA

    OpenAIRE

    Ernst, Kacey C; Haenchen, Steven; Dickinson, Katherine; Doyle, Michael S.; Walker, Kathleen; Andrew J Monaghan; Hayden, Mary H.

    2015-01-01

    After a dengue outbreak in Key West, Florida, during 2009–2010, authorities, considered conducting the first US release of male Aedes aegypti mosquitoes genetically modified to prevent reproduction. Despite outreach and media attention, only half of the community was aware of the proposal; half of those were supportive. Novel public health strategies require community engagement.

  19. Interfacial oxygen under TiO2 supported Au clusters revealed by a genetic algorithm search

    DEFF Research Database (Denmark)

    Vilhelmsen, Lasse Baarvig; Hammer, B.

    2013-01-01

    We present a density functional theory study of the oxidation of 1D periodic rods supported along the [001] direction on the rutile TiO2(110) surface. The study shows evidence for an oxidation of the interface between the supported Au and the TiO2 crystal. The added O atoms adsorb at the 5f-Ti at...

  20. Evidence for a genetic component for substance dependence in Native Americans.

    Science.gov (United States)

    Ehlers, Cindy L; Gizer, Ian R

    2013-02-01

    Although tribes differ with regard to the use of alcohol and drugs, substance dependence is one of the primary sources of health problems facing Native Americans. General population studies have demonstrated that substance dependence has a substantially heritable component (approximately 50% of the risk resulting from genetic influences); however, fewer studies have investigated the role of genetics in the risk for substance dependence in Native Americans. The authors present a literature review of the evidence for a genetic component in the etiology of substance dependence in Native Americans, including studies of heritability, linkage analyses, and candidate genes. Evidence for the heritability of alcohol and drug dependence was found. Linkage analyses revealed that genes influencing risk for substance dependence and related phenotypes, such as body mass index (BMI), drug tolerance, EEG patterns, and externalizing traits, reside on several chromosome regions identified in other population samples. Overlap in the gene locations for substance dependence and BMI suggests that a common genetic substrate may exist for disorders of consumption. Studies of the genes that code for alcohol-metabolizing enzymes have not revealed any risk variants specific to Native American populations, although most Native Americans lack protective variants seen in other populations. Other candidate genes associated with substance dependence phenotypes in Native Americans include OPRM1, CRN1, COMT, GABRA2, MAOA, and HTR3-B. Substance dependence has a substantial genetic component in Native Americans, similar in magnitude to that reported for other populations. The high rates of substance dependence seen in some tribes is likely a combination of a lack of genetic protective factors (metabolizing enzyme variants) combined with genetically mediated risk factors (externalizing traits, consumption drive, and drug sensitivity or tolerance) that combine with key environmental factors (trauma

  1. Supporting Implementation of Evidence-Based Practices through Practice-Based Coaching

    Science.gov (United States)

    Snyder, Patricia A.; Hemmeter, Mary Louise; Fox, Lise

    2015-01-01

    In active implementation science frameworks, coaching has been described as an important competency "driver" to ensure evidence-based practices are implemented as intended. Empirical evidence also has identified coaching as a promising job-embedded professional development strategy to support implementation of quality teaching practices.…

  2. No evidence for a genetic blueprint: The case of the "complex" mammalian photoreceptor

    Directory of Open Access Journals (Sweden)

    G Kumaramanickavel

    2015-01-01

    Full Text Available Despite the intensity of the search for genes causing inherited retinal degenerations over the past 3 decades, of the approximately 200 disease genes identified to date, all appear to be ordinary housekeeping genes specifying proteins playing basic structural and functional roles in the mature photoreceptor cells. No genes or genetic elements have been identified which can be construed as having a specific morphogenic role, directing the development of the cytoarchitecture of any particular retinal cell. The evidence suggests that the cytoarchitecture of the retinal photoreceptors, although enormously complex, arises from the self-organization of the cells constituents without any regulation or direction from an external genetic blueprint.

  3. Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity.

    Science.gov (United States)

    Xing, Yanlin; Ichida, Fukiko; Matsuoka, Taro; Isobe, Takeshi; Ikemoto, Yumiko; Higaki, Takashi; Tsuji, Tohru; Haneda, Noriyuki; Kuwabara, Atsushi; Chen, Rui; Futatani, Takeshi; Tsubata, Shinichi; Watanabe, Sayaka; Watanabe, Kazuhiro; Hirono, Keiichi; Uese, Keiichiro; Miyawaki, Toshio; Bowles, Karla R; Bowles, Neil E; Towbin, Jeffrey A

    2006-05-01

    Left ventricular noncompaction (LVNC) is a cardiomyopathy characterized by numerous excessively trabeculations and deep intertrabecular recesses. This study was performed to investigate Japanese LVNC patients for disease-causing mutations in a series of selected candidate genes. DNA was isolated from the peripheral blood of 79 cases including 20 familial cases and 59 sporadic cases. DNA samples were screened for mutations in the genes encoding G4.5 (TAZ), alpha-dystrobrevin (DTNA), alpha1-syntrophin (SNTA1), FK506 Binding protein 1A (FKBP1A or FKPB12: FKBP1A), and LIM Domain Binding protein 3 (Cypher/ZASP: LDB3), using single-strand conformational polymorphism analysis and DNA sequencing. DNA variants were identified in 6 of the 79 cases, including four familial cases and two sporadic cases. A splice acceptor mutation of intron 8 in TAZ (IVS8-1G>C) was identified in one family with isolated LVNC, resulting in deletion of exon 9 from mRNA. In a sporadic case of isolated LVNC and Barth syndrome (BTHS), a 158insC in exon 2 of TAZ resulting in a frame-shift mutation was identified. A 1876G>A substitution changing an aspartic acid to asparagine (D626N) was identified in LDB3 in four members of two families with LVNC. A 163G>A polymorphism was identified in LDB3, which changed a valine to isoleucine (V55I) in one patient with isolated LVNC. In addition, in a family with nonisolated LVNC, a 362C>T mutation was identified in DTNA. LVNC, like other forms of inherited cardiomyopathy, is a genetically heterogeneous disease, associated with variable clinical symptoms and can be inherited as an autosomal or X-linked recessive disorder.

  4. Population dynamic of the extinct European aurochs: genetic evidence of a north-south differentiation pattern and no evidence of post-glacial expansion

    Directory of Open Access Journals (Sweden)

    Di Patti Carolina

    2010-03-01

    Full Text Available Abstract Background The aurochs (Bos primigenius was a large bovine that ranged over almost the entirety of the Eurasian continent and North Africa. It is the wild ancestor of the modern cattle (Bos taurus, and went extinct in 1627 probably as a consequence of human hunting and the progressive reduction of its habitat. To investigate in detail the genetic history of this species and to compare the population dynamics in different European areas, we analysed Bos primigenius remains from various sites across Italy. Results Fourteen samples provided ancient DNA fragments from the mitochondrial hypervariable region. Our data, jointly analysed with previously published sequences, support the view that Italian aurochsen were genetically similar to modern bovine breeds, but very different from northern/central European aurochsen. Bayesian analyses and coalescent simulations indicate that the genetic variation pattern in both Italian and northern/central European aurochsen is compatible with demographic stability after the last glaciation. We provide evidence that signatures of population expansion can erroneously arise in stable aurochsen populations when the different ages of the samples are not taken into account. Conclusions Distinct groups of aurochsen probably inhabited Italy and northern/central Europe after the last glaciation, respectively. On the contrary, Italian and Fertile Crescent aurochsen likely shared several mtDNA sequences, now common in modern breeds. We argue that a certain level of genetic homogeneity characterized aurochs populations in Southern Europe and the Middle East, and also that post-glacial recolonization of northern and central Europe advanced, without major demographic expansions, from eastern, and not southern, refugia.

  5. Population dynamic of the extinct European aurochs: genetic evidence of a north-south differentiation pattern and no evidence of post-glacial expansion.

    Science.gov (United States)

    Mona, Stefano; Catalano, Giulio; Lari, Martina; Larson, Greger; Boscato, Paolo; Casoli, Antonella; Sineo, Luca; Di Patti, Carolina; Pecchioli, Elena; Caramelli, David; Bertorelle, Giorgio

    2010-03-26

    The aurochs (Bos primigenius) was a large bovine that ranged over almost the entirety of the Eurasian continent and North Africa. It is the wild ancestor of the modern cattle (Bos taurus), and went extinct in 1627 probably as a consequence of human hunting and the progressive reduction of its habitat. To investigate in detail the genetic history of this species and to compare the population dynamics in different European areas, we analysed Bos primigenius remains from various sites across Italy. Fourteen samples provided ancient DNA fragments from the mitochondrial hypervariable region. Our data, jointly analysed with previously published sequences, support the view that Italian aurochsen were genetically similar to modern bovine breeds, but very different from northern/central European aurochsen. Bayesian analyses and coalescent simulations indicate that the genetic variation pattern in both Italian and northern/central European aurochsen is compatible with demographic stability after the last glaciation. We provide evidence that signatures of population expansion can erroneously arise in stable aurochsen populations when the different ages of the samples are not taken into account. Distinct groups of aurochsen probably inhabited Italy and northern/central Europe after the last glaciation, respectively. On the contrary, Italian and Fertile Crescent aurochsen likely shared several mtDNA sequences, now common in modern breeds. We argue that a certain level of genetic homogeneity characterized aurochs populations in Southern Europe and the Middle East, and also that post-glacial recolonization of northern and central Europe advanced, without major demographic expansions, from eastern, and not southern, refugia.

  6. 5 CFR 630.403 - Supporting evidence for the use of sick leave.

    Science.gov (United States)

    2010-01-01

    ... leave. 630.403 Section 630.403 Administrative Personnel OFFICE OF PERSONNEL MANAGEMENT CIVIL SERVICE REGULATIONS ABSENCE AND LEAVE Sick Leave § 630.403 Supporting evidence for the use of sick leave. (a) An agency may grant sick leave only when the need for sick leave is supported by administratively...

  7. Population Genetics of Jaguars (Panthera onca) in the Brazilian Pantanal: Molecular Evidence for Demographic Connectivity on a Regional Scale.

    Science.gov (United States)

    Valdez, Fernanda Pedone; Haag, Taiana; Azevedo, Fernando C C; Silveira, Leandro; Cavalcanti, Sandra M C; Salzano, Francisco M; Eizirik, Eduardo

    2015-01-01

    Habitat loss and fragmentation are important threats to carnivores worldwide, and can be especially intense for large predators. Jaguars have already been extirpated from over half of their original area of distribution, and few regions still maintain large populations. For these, detailed understanding is crucial for setting appropriate recovery targets in impacted areas. The Pantanal is among the best examples of a region with a large jaguar population in a healthy environment. Here, we analyzed 12 microsatellite loci to characterize genetic diversity and population structure of 52 jaguars sampled in 4 localities of the southern Pantanal, and compared them with prior studies of heavily fragmented populations of the Atlantic Forest. Although we observed some internal structure among the Pantanal localities, our results indicated that this area comprises a single population with high genetic variability. Moreover, our comparative analyses supported the hypothesis that the strong population structure observed in the Atlantic Forest derives from recent, anthropogenic fragmentation. We also observed significant but low levels of genetic differentiation between the Pantanal and Atlantic Forest populations, indicating recent connectivity between jaguars occurring in these biomes. Evidence for admixture between the Pantanal and a population on the western boundary of the Atlantic Forest corroborates the transitional nature of the latter area, where the jaguar population has already been extirpated. Our results can be used to understand jaguar population dynamics in a region that is less disturbed than the Atlantic forest, and to support the design of conservation strategies that maintain and restore natural connectivity among currently isolated areas. © The American Genetic Association 2015. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  8. Genetic structure and evidence of putative Darwinian diversifying selection in the Potato yellow vein virus (PYVV

    Directory of Open Access Journals (Sweden)

    Giovanni Chaves-Bedoya

    2013-08-01

    Full Text Available The population structure and genetic variation of Potato yellow vein virus (PYVV were estimated by analysis of the nucleotide and deduced amino acid sequence of the coat protein of 69 isolates, reported in GenBank, from Solanum tuberosum (ST and Solanum phureja (SP hosts from different regions; predominantly Cundinamarca, Antioquia and Nariño, located in central and southwestern Colombia. Bioinformatics analysis revealed that despite the wide geographic distribution of different hosts and different collecting years, PYVV maintains a genetic similarity between 97.1 to 100.0%, indicating high spatial and temporal genetic stability of the major coat protein. No recombination events were found, but evidence was seen for the first time that this protein could be undergoing Darwinian diversifying selection

  9. Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight

    DEFF Research Database (Denmark)

    Tyrrell, Jessica; Richmond, Rebecca C; Palmer, Tom M

    2016-01-01

    IMPORTANCE: Neonates born to overweight or obese women are larger and at higher risk of birth complications. Many maternal obesity-related traits are observationally associated with birth weight, but the causal nature of these associations is uncertain. OBJECTIVE: To test for genetic evidence...... of causal associations of maternal body mass index (BMI) and related traits with birth weight. DESIGN, SETTING, AND PARTICIPANTS: Mendelian randomization to test whether maternal BMI and obesity-related traits are potentially causally related to offspring birth weight. Data from 30,487 women in 18 studies...... were analyzed. Participants were of European ancestry from population- or community-based studies in Europe, North America, or Australia and were part of the Early Growth Genetics Consortium. Live, term, singleton offspring born between 1929 and 2013 were included. EXPOSURES: Genetic scores for BMI...

  10. Gene × Environment Interactions in Schizophrenia: Evidence from Genetic Mouse Models

    Science.gov (United States)

    Marr, Julia; Bock, Gavin; Desbonnet, Lieve; Waddington, John

    2016-01-01

    The study of gene × environment, as well as epistatic interactions in schizophrenia, has provided important insight into the complex etiopathologic basis of schizophrenia. It has also increased our understanding of the role of susceptibility genes in the disorder and is an important consideration as we seek to translate genetic advances into novel antipsychotic treatment targets. This review summarises data arising from research involving the modelling of gene × environment interactions in schizophrenia using preclinical genetic models. Evidence for synergistic effects on the expression of schizophrenia-relevant endophenotypes will be discussed. It is proposed that valid and multifactorial preclinical models are important tools for identifying critical areas, as well as underlying mechanisms, of convergence of genetic and environmental risk factors, and their interaction in schizophrenia. PMID:27725886

  11. Ancestry of the Iban is predominantly Southeast Asian: genetic evidence from autosomal, mitochondrial, and Y chromosomes.

    Directory of Open Access Journals (Sweden)

    Tatum S Simonson

    Full Text Available Humans reached present-day Island Southeast Asia (ISEA in one of the first major human migrations out of Africa. Population movements in the millennia following this initial settlement are thought to have greatly influenced the genetic makeup of current inhabitants, yet the extent attributed to different events is not clear. Recent studies suggest that south-to-north gene flow largely influenced present-day patterns of genetic variation in Southeast Asian populations and that late Pleistocene and early Holocene migrations from Southeast Asia are responsible for a substantial proportion of ISEA ancestry. Archaeological and linguistic evidence suggests that the ancestors of present-day inhabitants came mainly from north-to-south migrations from Taiwan and throughout ISEA approximately 4,000 years ago. We report a large-scale genetic analysis of human variation in the Iban population from the Malaysian state of Sarawak in northwestern Borneo, located in the center of ISEA. Genome-wide single-nucleotide polymorphism (SNP markers analyzed here suggest that the Iban exhibit greatest genetic similarity to Indonesian and mainland Southeast Asian populations. The most common non-recombining Y (NRY and mitochondrial (mt DNA haplogroups present in the Iban are associated with populations of Southeast Asia. We conclude that migrations from Southeast Asia made a large contribution to Iban ancestry, although evidence of potential gene flow from Taiwan is also seen in uniparentally inherited marker data.

  12. Ancestry of the Iban is predominantly Southeast Asian: genetic evidence from autosomal, mitochondrial, and Y chromosomes.

    Science.gov (United States)

    Simonson, Tatum S; Xing, Jinchuan; Barrett, Robert; Jerah, Edward; Loa, Peter; Zhang, Yuhua; Watkins, W Scott; Witherspoon, David J; Huff, Chad D; Woodward, Scott; Mowry, Bryan; Jorde, Lynn B

    2011-01-31

    Humans reached present-day Island Southeast Asia (ISEA) in one of the first major human migrations out of Africa. Population movements in the millennia following this initial settlement are thought to have greatly influenced the genetic makeup of current inhabitants, yet the extent attributed to different events is not clear. Recent studies suggest that south-to-north gene flow largely influenced present-day patterns of genetic variation in Southeast Asian populations and that late Pleistocene and early Holocene migrations from Southeast Asia are responsible for a substantial proportion of ISEA ancestry. Archaeological and linguistic evidence suggests that the ancestors of present-day inhabitants came mainly from north-to-south migrations from Taiwan and throughout ISEA approximately 4,000 years ago. We report a large-scale genetic analysis of human variation in the Iban population from the Malaysian state of Sarawak in northwestern Borneo, located in the center of ISEA. Genome-wide single-nucleotide polymorphism (SNP) markers analyzed here suggest that the Iban exhibit greatest genetic similarity to Indonesian and mainland Southeast Asian populations. The most common non-recombining Y (NRY) and mitochondrial (mt) DNA haplogroups present in the Iban are associated with populations of Southeast Asia. We conclude that migrations from Southeast Asia made a large contribution to Iban ancestry, although evidence of potential gene flow from Taiwan is also seen in uniparentally inherited marker data.

  13. Genetic diversity of marine Synechococcus and co-occurring cyanophage communities: evidence for viral control of phytoplankton.

    Science.gov (United States)

    Mühling, Martin; Fuller, Nicholas J; Millard, Andrew; Somerfield, Paul J; Marie, Dominique; Wilson, William H; Scanlan, David J; Post, Anton F; Joint, Ian; Mann, Nicholas H

    2005-04-01

    Unicellular cyanobacteria of the genus Synechococcus are a major component of the picophytoplankton and make a substantial contribution to primary productivity in the oceans. Here we provide evidence that supports the hypothesis that virus infection can play an important role in determining the success of different Synechococcus genotypes and hence of seasonal succession. In a study of the oligotrophic Gulf of Aqaba, Red Sea, we show a succession of Synechococcus genotypes over an annual cycle. There were large changes in the genetic diversity of Synechococcus, as determined by restriction fragment length polymorphism analysis of a 403- bp rpoC1 gene fragment, which was reduced to one dominant genotype in July. The abundance of co-occurring cyanophage capable of infecting marine Synechococcus was determined by plaque assays and their genetic diversity was determined by denaturing gradient gel electrophoresis analysis of a 118-bp g20 gene fragment. The results indicate that both abundance and genetic diversity of cyanophage covaried with that of Synechococcus. Multivariate statistical analyses show a significant relationship between cyanophage assemblage structure and that of Synechococcus. These observations are consistent with cyanophage infection being a major controlling factor in picophytoplankton succession.

  14. Clonal diversity of the glutamate dehydrogenase gene in Giardia duodenalis from Thai Isolates: evidence of genetic exchange or Mixed Infections?

    Directory of Open Access Journals (Sweden)

    Saksirisampant Wilai

    2011-09-01

    Full Text Available Abstract Background The glutamate dehydrogenase gene (gdh is one of the most popular and useful genetic markers for the genotypic analysis of Giardia duodenalis (syn. G. lamblia, G. intestinalis, the protozoan that widely causes enteric disease in humans. To determine the distribution of genotypes of G. duodenalis in Thai populations and to investigate the extent of sequence variation at this locus, 42 fecal samples were collected from 3 regions of Thailand i.e., Central, Northern, and Eastern regions. All specimens were analyzed using PCR-based genotyping and recombinant subcloning methods. Results The results showed that the prevalence of assemblages A and B among these populations was approximately equal, 20 (47.6% and 22 (52.4%, respectively. Sequence analysis revealed that the nucleotide diversity of assemblage B was significantly greater than that in assemblage A. Among all assemblage B positive specimens, the allelic sequence divergence within isolates was detected. Nine isolates showed mixed alleles, ranged from three to nine distinct alleles per isolate. Statistical analysis demonstrated the occurrence of genetic recombination within subassemblages BIII and BIV was likely. Conclusion This study supports increasing evidence that G. duodenalis has the potential for genetic exchange.

  15. NCI Dictionary of Genetics Terms

    Science.gov (United States)

    A dictionary of more than 150 genetics-related terms written for healthcare professionals, developed to support the comprehensive, evidence-based, peer-reviewed PDQ cancer genetics information summaries.

  16. Genetic evidence of population structuring in the neotropical freshwater fish Brycon hilarii (Valenciennes, 1850).

    Science.gov (United States)

    Sanches, A; Galetti Jr, P M

    2007-12-01

    Brycon hilarii is a migratory fish widely distributed throughout the Paraguay River Basin. It is appreciated in sport fishing and for its superior meat quality. It is also the main species for tourist attraction in the Bonito region (State of Mato Grosso do Sul, Brazil). Considering the lack of information on the genetic structure of the fish of this species, the aim of the present study was to detect the genetic variability of Brycon hilarii through RAPD markers. A total of eighty specimens collected in different seasons at four sites of the Miranda River sub-basin (Paraguay River Basin, Brazil) were used for analysis. The results of genetic similarity, Shannon diversity, and AMOVA revealed differences between the sampling sites. Through AMOVA, differences between populations were more evident among the animals collected during the non-reproductive season, corresponding to a time of less movement of these fish. A population structuring model in which B. hilarii appears organized into genetically differentiated reproductive units that coexist and co-migrate through the studied system was suggested, contrasting the currently accepted idea that freshwater migratory fish form large panmictic populations in a determined hydrographic system. Despite the lack of a complete picture regarding the distribution of B. hilarii in the studied region, this initial idea on its population genetic structure could be an important contribution to providing aid for management and conservation programs of these fish.

  17. Evidence for a genetic role in varicose veins and chronic venous insufficiency.

    Science.gov (United States)

    Krysa, J; Jones, G T; van Rij, A M

    2012-10-01

    There is a strong body of circumstantial evidence which implicates genetics in the aetiology and pathology of varicose veins and venous ulcer disease. The aim of this review is to consider the current knowledge of the genetic associations and the ways in which new genetic technologies may be applied to advancing our understanding of the cause and progression of these venous diseases. A number of publications have used a candidate gene approach to identify genes implicated in venous disease. Although these studies have opened up important new insights, there has been a general failure to replicate results in an independent cohort of patients. With our limited knowledge of the biological pathways involved in the pathogenesis of venous disease we are not in a strong position to formulate truly erudite a priori candidate gene hypothesis-directed studies. A genome-wide association study should therefore be considered to help further our understanding of the genetic basis of venous disease. Due to the large sample sizes required for discovery and validation, using the new generations of molecular technologies, it will be necessary to form collaborating groups in order to successfully advance the field of venous disease genetics.

  18. Genetic evidence of population structuring in the neotropical freshwater fish Brycon hilarii (Valenciennes, 1850

    Directory of Open Access Journals (Sweden)

    A Sanches

    Full Text Available Brycon hilarii is a migratory fish widely distributed throughout the Paraguay River Basin. It is appreciated in sport fishing and for its superior meat quality. It is also the main species for tourist attraction in the Bonito region (State of Mato Grosso do Sul, Brazil. Considering the lack of information on the genetic structure of the fish of this species, the aim of the present study was to detect the genetic variability of Brycon hilarii through RAPD markers. A total of eighty specimens collected in different seasons at four sites of the Miranda River sub-basin (Paraguay River Basin, Brazil were used for analysis. The results of genetic similarity, Shannon diversity, and AMOVA revealed differences between the sampling sites. Through AMOVA, differences between populations were more evident among the animals collected during the non-reproductive season, corresponding to a time of less movement of these fish. A population structuring model in which B. hilarii appears organized into genetically differentiated reproductive units that coexist and co-migrate through the studied system was suggested, contrasting the currently accepted idea that freshwater migratory fish form large panmictic populations in a determined hydrographic system. Despite the lack of a complete picture regarding the distribution of B. hilarii in the studied region, this initial idea on its population genetic structure could be an important contribution to providing aid for management and conservation programs of these fish.

  19. Phenotypic plasticity and epigenetic marking: an assessment of evidence for genetic accommodation.

    Science.gov (United States)

    Schlichting, Carl D; Wund, Matthew A

    2014-03-01

    The relationship between genotype (which is inherited) and phenotype (the target of selection) is mediated by environmental inputs on gene expression, trait development, and phenotypic integration. Phenotypic plasticity or epigenetic modification might influence evolution in two general ways: (1) by stimulating evolutionary responses to environmental change via population persistence or by revealing cryptic genetic variation to selection, and (2) through the process of genetic accommodation, whereby natural selection acts to improve the form, regulation, and phenotypic integration of novel phenotypic variants. We provide an overview of models and mechanisms for how such evolutionary influences may be manifested both for plasticity and epigenetic marking. We point to promising avenues of research, identifying systems that can best be used to address the role of plasticity in evolution, as well as the need to apply our expanding knowledge of genetic and epigenetic mechanisms to our understanding of how genetic accommodation occurs in nature. Our review of a wide variety of studies finds widespread evidence for evolution by genetic accommodation.

  20. Evidence for shared genetic risk between ADHD symptoms and reduced mathematics ability: a twin study.

    Science.gov (United States)

    Greven, Corina U; Kovas, Yulia; Willcutt, Erik G; Petrill, Stephen A; Plomin, Robert

    2014-01-01

    Attention-deficit/hyperactivity disorder (ADHD) symptoms and mathematics ability are associated, but little is known about the genetic and environmental influences underlying this association. Data came from more than 6,000 twelve-year-old twin pairs from the UK population-representative Twins Early Development Study. Parents rated each twin's behaviour using a DSM-IV-based 18-item questionnaire of inattentive and hyperactive-impulsive ADHD symptoms. Mathematics tests based on the UK National Curriculum were completed by each twin. The twins also completed standardised tests of reading and general cognitive ability. Multivariate twin model fitting was applied. Inattentive and hyperactive-impulsive ADHD symptoms were highly heritable (67% and 73% respectively). Mathematics ability was moderately heritable (46%). Mathematics ability and inattentiveness showed a significantly greater phenotypic correlation (r(p) = -.26) and genetic correlation (r(A) = -.41) than mathematics ability and hyperactivity-impulsivity (r(p) = -.18; r(A) = -.22). The genetic correlation between inattentiveness and mathematics ability was largely independent from hyperactivity-impulsivity, and was only partially accounted for by genetic influences related to reading and general cognitive ability. Results revealed the novel finding that mathematics ability shows significantly stronger phenotypic and genetic associations with inattentiveness than with hyperactivity-impulsivity. Genetic associations between inattentiveness and mathematics ability could only partially be accounted for by hyperactivity-impulsivity, reading and general cognitive ability. Results suggest that mathematics ability is associated with ADHD symptoms largely because it shares genetic risk factors with inattentiveness, and provide further evidence for considering inattentiveness and hyperactivity-impulsivity separately. DNA markers for ADHD symptoms (especially inattentiveness) may also be candidate risk factors for

  1. Interactive decision support for risk management: a qualitative evaluation in cancer genetic counselling sessions.

    Science.gov (United States)

    Glasspool, David W; Oettinger, Ayelet; Braithwaite, Dejana; Fox, John

    2010-09-01

    Genetic counselling for inherited susceptibility to cancer involves communication of a significant amount of information about possible consequences of different interventions. This study explores counsellors' attitudes to computer software designed to aid this process. Eight genetic counsellors used the software with actors playing patients. Clinicians' rating of expected patient satisfaction, content, accuracy, timeliness, format, overall value, ease of use, effect on the patient-provider relationship and effect on clinician's performance were evaluated via qualitative and quantitative analysis of interviews, training tasks and questionnaires. Most counsellors found the software effective. Concerns related to possible impact on consultation dynamics and content. Participants suggested countering these through appropriate new counselling skills and selective use of the computer. The REACT software could provide effective support for genetic risk management counselling.

  2. Twelve evidence-based principles for implementing self-management support in primary care.

    Science.gov (United States)

    Battersby, Malcolm; Von Korff, Michael; Schaefer, Judith; Davis, Connie; Ludman, Evette; Greene, Sarah M; Parkerton, Melissa; Wagner, Edward H

    2010-12-01

    Recommendations to improve self-management support and health outcomes for people with chronic conditions in primary care settings are provided on the basis of expert opinion supported by evidence for practices and processes. Practices and processes that could improve self-management support in primary care were identified through a nominal group process. In a targeted search strategy, reviews and meta-analyses were then identifed using terms from a wide range of chronic conditions and behavioral risk factors in combination with Self-Care, Self-Management, and Primary Care. On the basis of these reviews, evidence-based principles for self-management support were developed. The evidence is organized within the framework of the Chronic Care Model. Evidence-based principles in 12 areas were associated with improved patient self-management and/or health outcomes: (1) brief targeted assessment, (2) evidence-based information to guide shared decision-making, (3) use of a nonjudgmental approach, (4) collaborative priority and goal setting, (5) collaborative problem solving, (6) self-management support by diverse providers, (7) self-management interventions delivered by diverse formats, (8) patient self-efficacy, (9) active followup, (10) guideline-based case management for selected patients, (11) linkages to evidence-based community programs, and (12) multifaceted interventions. A framework is provided for implementing these principles in three phases of the primary care visit: enhanced previsit assessment, a focused clinical encounter, and expanded postvisit options. There is a growing evidence base for how self-management support for chronic conditions can be integrated into routine health care.

  3. Evidence-informed health policy 2 – Survey of organizations that support the use of research evidence

    Directory of Open Access Journals (Sweden)

    Oxman Andrew D

    2008-12-01

    Full Text Available Abstract Background Previous surveys of organizations that support the development of evidence-informed health policies have focused on organizations that produce clinical practice guidelines (CPGs or undertake health technology assessments (HTAs. Only rarely have surveys focused at least in part on units that directly support the use of research evidence in developing health policy on an international, national, and state or provincial level (i.e., government support units, or GSUs that are in some way successful or innovative or that support the use of research evidence in low- and middle-income countries (LMICs. Methods We drew on many people and organizations around the world, including our project reference group, to generate a list of organizations to survey. We modified a questionnaire that had been developed originally by the Appraisal of Guidelines, Research and Evaluation in Europe (AGREE collaboration and adapted one version of the questionnaire for organizations producing CPGs and HTAs, and another for GSUs. We sent the questionnaire by email to 176 organizations and followed up periodically with non-responders by email and telephone. Results We received completed questionnaires from 152 (86% organizations. More than one-half of the organizations (and particularly HTA agencies reported that examples from other countries were helpful in establishing their organization. A higher proportion of GSUs than CPG- or HTA-producing organizations involved target users in the selection of topics or the services undertaken. Most organizations have few (five or fewer full-time equivalent (FTE staff. More than four-fifths of organizations reported providing panels with or using systematic reviews. GSUs tended to use a wide variety of explicit valuation processes for the research evidence, but none with the frequency that organizations producing CPGs, HTAs, or both prioritized evidence by its quality. Between one-half and two-thirds of organizations

  4. SUPPORT Tools for evidence-informed health Policymaking (STP) 14: Organising and using policy dialogues to support evidence-informed policymaking.

    Science.gov (United States)

    Lavis, John N; Boyko, Jennifer A; Oxman, Andrew D; Lewin, Simon; Fretheim, Atle

    2009-12-16

    This article is part of a series written for people responsible for making decisions about health policies and programmes and for those who support these decision makers. Policy dialogues allow research evidence to be considered together with the views, experiences and tacit knowledge of those who will be involved in, or affected by, future decisions about a high-priority issue. Increasing interest in the use of policy dialogues has been fuelled by a number of factors: 1. The recognition of the need for locally contextualised 'decision support' for policymakers and other stakeholders 2. The recognition that research evidence is only one input into the decision-making processes of policymakers and other stakeholders 3. The recognition that many stakeholders can add significant value to these processes, and 4. The recognition that many stakeholders can take action to address high-priority issues, and not just policymakers. In this article, we suggest questions to guide those organising and using policy dialogues to support evidence-informed policymaking. These are: 1. Does the dialogue address a high-priority issue? 2. Does the dialogue provide opportunities to discuss the problem, options to address the problem, and key implementation considerations? 3. Is the dialogue informed by a pre-circulated policy brief and by a discussion about the full range of factors that can influence the policymaking process? 4. Does the dialogue ensure fair representation among those who will be involved in, or affected by, future decisions related to the issue? 5. Does the dialogue engage a facilitator, follow a rule about not attributing comments to individuals, and not aim for consensus? 6. Are outputs produced and follow-up activities undertaken to support action?

  5. Evidence-based psychiatric genetics, AKA the false dichotomy between common and rare variant hypotheses.

    Science.gov (United States)

    Visscher, P M; Goddard, M E; Derks, E M; Wray, N R

    2012-05-01

    In this article, we review some of the data that contribute to our understanding of the genetic architecture of psychiatric disorders. These include results from evolutionary modelling (hence no data), the observed recurrence risk to relatives and data from molecular markers. We briefly discuss the common-disease common-variant hypothesis, the success (or otherwise) of genome-wide association studies, the evidence for polygenic variance and the likely success of exome and whole-genome sequencing studies. We conclude that the perceived dichotomy between 'common' and 'rare' variants is not only false, but unhelpful in making progress towards increasing our understanding of the genetic basis of psychiatric disorders. Strong evidence has been accumulated that is consistent with the contribution of many genes to risk of disease, across a wide range of allele frequencies and with a substantial proportion of genetic variation in the population in linkage disequilibrium with single-nucleotide polymorphisms (SNPs) on commercial genotyping arrays. At the same time, most causal variants that segregate in the population are likely to be rare and in total these variants also explain a significant proportion of genetic variation. It is the combination of allele frequency, effect size and functional characteristics that will determine the success of new experimental paradigms such as whole exome/genome sequencing to detect such loci. Empirical results suggest that roughly half the genetic variance is tagged by SNPs on commercial genome-wide chips, but that individual causal variants have a small effect size, on average. We conclude that larger experimental sample sizes are essential to further our understanding of the biology underlying psychiatric disorders.

  6. Summary of evidence for an anticodonic basis for the origin of the genetic code

    Science.gov (United States)

    Lacey, J. C., Jr.; Mullins, D. W., Jr.

    1981-01-01

    This article summarizes data supporting the hypothesis that the genetic code origin was based on relationships (probably affinities) between amino acids and their anticodon nucleotides. Selective activation seems to follow from selective affinity and consequently, incorporation of amino acids into peptides can also be selective. It is suggested that these selectivities in affinity and activation, coupled with the base pairing specificities, allowed the origin of the code and the process of translation.

  7. Building a knowledge translation platform in Malawi to support evidence-informed health policy.

    Science.gov (United States)

    Berman, Joshua; Mitambo, Collins; Matanje-Mwagomba, Beatrice; Khan, Shiraz; Kachimanga, Chiyembekezo; Wroe, Emily; Mwape, Lonia; van Oosterhout, Joep J; Chindebvu, Getrude; van Schoor, Vanessa; Puchalski Ritchie, Lisa M; Panisset, Ulysses; Kathyola, Damson

    2015-12-08

    With the support of the World Health Organization's Evidence-Informed Policy Network, knowledge translation platforms have been developed throughout Africa, the Americas, Eastern Europe, and Asia to further evidence-informed national health policy. In this commentary, we discuss the approaches, activities and early lessons learned from the development of a Knowledge Translation Platform in Malawi (KTPMalawi). Through ongoing leadership, as well as financial and administrative support, the Malawi Ministry of Health has strongly signalled its intention to utilize a knowledge translation platform methodology to support evidence-informed national health policy. A unique partnership between Dignitas International, a medical and research non-governmental organization, and the Malawi Ministry of Health, has established KTPMalawi to engage national-level policymakers, researchers and implementers in a coordinated approach to the generation and utilization of health-sector research. Utilizing a methodology developed and tested by knowledge translation platforms across Africa, a stakeholder mapping exercise and initial capacity building workshops were undertaken and a multidisciplinary Steering Committee was formed. This Steering Committee prioritized the development of two initial Communities of Practice to (1) improve data utilization in the pharmaceutical supply chain and (2) improve the screening and treatment of hypertension within HIV-infected populations. Each Community of Practice's mandate is to gather and synthesize the best available global and local evidence and produce evidence briefs for policy that have been used as the primary input into structured deliberative dialogues. While a lack of sustained initial funding slowed its early development, KTPMalawi has greatly benefited from extensive technical support and mentorship by an existing network of global knowledge translation platforms. With the continued support of the Malawi Ministry of Health and the

  8. Genetic evidence that Darwin was right about criminality: nature, not nurture.

    Science.gov (United States)

    Baschetti, Riccardo

    2008-01-01

    Darwin maintained that man's behaviours, just as the ones of the lower animals, are not cultural products of learning, but constitute evolutionarily selected innate traits that can be transmitted through biological inheritance. Coherently, Darwin wrote that "some elimination of the worst dispositions is always in progress... Malefactors are executed...so that they cannot freely transmit their bad qualities". Darwin's evolutionary deterministic views about the innateness of human behaviours and the heritability of criminal tendencies proved genially farsighted. Indeed, the scientific evidence that they are genetically determined became indisputable just in this century, about 120 years after Darwin's death. This article, besides discussing human genetic variation and the genetic basis of pro-social traits, focuses on the recent and mounting evidence that points to genes for antisocial behaviours, genes for criminality, and genes for violence. All of them contribute to discredit further the scientifically untenable cultural dogma claiming that human behaviours reflect nurture, represented by social environments, not nature, in the form of biological factors. Genes for criminality and violence also concur to demolish the ideological dogma espoused by those who assert that criminality is a result of poverty and unemployment. The falsity of that politically biased dogma, as argued in this article, is also demonstrated by the fact that Brazil, despite significant reductions of poverty, socioeconomic disparities, and unemployment during the last five years, is facing a spiralling increase in criminal misdeeds, including homicides, which have reached an alarming rate that is nearly fivefold higher than the already worrying one of the USA.

  9. Comparative population genetics of two invading ticks: Evidence of the ecological mechanisms underlying tick range expansions.

    Science.gov (United States)

    Nadolny, Robyn; Gaff, Holly; Carlsson, Jens; Gauthier, David

    2015-10-01

    Two species of ixodid tick, Ixodes affinis Neumann and Amblyomma maculatum Koch, are simultaneously expanding their ranges throughout the mid-Atlantic region of the US. Although we have some understanding of the ecology and life history of these species, the ecological mechanisms governing where and how new populations establish and persist are unclear. To assess population connectivity and ancestry, we sequenced a fragment of the 16S mitochondrial rRNA gene from a representative sample of individuals of both species from populations throughout the eastern US. We found that despite overlapping host preferences throughout ontogeny, each species exhibited very different genetic and geographic patterns of population establishment and connectivity. I. affinis was of two distinct mitochondrial clades, with a clear geographic break separating northern and southern populations. Both I. affinis populations showed evidence of recent expansion, although the southern population was more genetically diverse, indicating a longer history of establishment. A. maculatum exhibited diverse haplotypes that showed no significant relationship with geographic patterns and little apparent connectivity between sites. Heteroplasmy was also observed in the 16S mitochondrial rRNA gene in 3.5% of A. maculatum individuals. Genetic evidence suggests that these species rely on different key life stages to successfully disperse into novel environments, and that host vagility, habitat stability and habitat connectivity all play critical roles in the establishment of new tick populations.

  10. Genetic evidence for natural product-mediated plant-plant allelopathy in rice (Oryza sativa).

    Science.gov (United States)

    Xu, Meimei; Galhano, Rita; Wiemann, Philipp; Bueno, Emilio; Tiernan, Mollie; Wu, William; Chung, Ill-Min; Gershenzon, Jonathan; Tudzynski, Bettina; Sesma, Ane; Peters, Reuben J

    2012-02-01

    • There is controversy as to whether specific natural products play a role in directly mediating antagonistic plant-plant interactions - that is, allelopathy. If proved to exist, such phenomena would hold considerable promise for agronomic improvement of staple food crops such as rice (Oryza sativa). • However, while substantiated by the presence of phytotoxic compounds at potentially relevant concentrations, demonstrating a direct role for specific natural products in allelopathy has been difficult because of the chemical complexity of root and plant litter exudates. This complexity can be bypassed via selective genetic manipulation to ablate production of putative allelopathic compounds, but such an approach previously has not been applied. • The rice diterpenoid momilactones provide an example of natural products for which correlative biochemical evidence has been obtained for a role in allelopathy. Here, we apply reverse genetics, using knock-outs of the relevant diterpene synthases (copalyl diphosphate synthase 4 (OsCPS4) and kaurene synthase-like 4 (OsKSL4)), to demonstrate that rice momilactones are involved in allelopathy, including suppressing growth of the widespread rice paddy weed, barnyard grass (Echinochloa crus-galli). • Thus, our results not only provide novel genetic evidence for natural product-mediated allelopathy, but also furnish a molecular target for breeding and metabolic engineering of this important crop plant. © 2011 The Authors. New Phytologist © 2011 New Phytologist Trust.

  11. Genetic evidence for natural product mediated plant–plant allelopathy in rice

    Science.gov (United States)

    Xu, Meimei; Galhano, Rita; Wiemann, Philipp; Bueno, Emilio; Tiernan, Mollie; Wu, William; Chung, Ill-Min; Gershenzon, Jonathan; Tudzynski, Bettina; Sesma, Ane; Peters, Reuben J.

    2011-01-01

    Summary A role for specific natural products in directly mediating antagonistic plant–plant interactions –that is, allelopathy –has been controversial. If proven, such phenomena would hold considerable promise for agronomic improvement of staple food crops such as rice (Oryza sativa).However, while substantiated by the presence of phytotoxic compounds at potentially relevant levels, demonstrating a direct role for specific natural products in allelopathy has been difficult due to the chemical complexity of root and plant litter exudates. This complexity can be bypassed via selective genetic manipulation to ablate production of putative allelopathic compounds, but such an approach previously has not been applied.The rice diterpenoid momilactones provide an example of natural products for which correlative biochemical evidence has been obtained for a role in allelopathy. Here, we apply reverse genetics, using knock-outs of the relevant diterpene synthases (OsCPS4 and OsKSL4), to demonstrate that rice momilactones are involved in allelopathy, including suppressing growth of the widespread rice paddy weed, barnyard grass (Echinochloa crus-galli).Thus, our results not only provide novel genetic evidence for natural product mediated allelopathy, but also furnish a molecular target for breeding and metabolic engineering of this important crop plant. PMID:22150231

  12. Genetic diversity and mutation of avian paramyxovirus serotype 1 (Newcastle disease virus) in wild birds and evidence for intercontinental spread

    Science.gov (United States)

    Ramey, Andy M.; Reeves, Andrew B.; Ogawa, Haruko; Ip, Hon S.; Imai, Kunitoshi; Bui, V. N.; Yamaguchi, Emi; Silko, N. Y.; Afonso, C.L.

    2013-01-01

    Avian paramyxovirus serotype 1 (APMV-1), or Newcastle disease virus, is the causative agent of Newcastle disease, one of the most economically important diseases for poultry production worldwide and a cause of periodic epizootics in wild birds in North America. In this study, we examined the genetic diversity of APMV-1 isolated from migratory birds sampled in Alaska, Japan, and Russia and assessed the evidence for intercontinental virus spread using phylogenetic methods. Additionally, we predicted viral virulence using deduced amino acid residues for the fusion protein cleavage site and estimated mutation rates for the fusion gene of class I and class II migratory bird isolates. All 73 isolates sequenced as part of this study were most closely related to virus genotypes previously reported for wild birds; however, five class II genotype I isolates formed a monophyletic clade exhibiting previously unreported genetic diversity, which met criteria for the designation of a new sub-genotype. Phylogenetic analysis of wild-bird isolates provided evidence for intercontinental virus spread, specifically viral lineages of APMV-1 class II genotype I sub-genotypes Ib and Ic. This result supports migratory bird movement as a possible mechanism for the redistribution of APMV-1. None of the predicted deduced amino acid motifs for the fusion protein cleavage site of APMV-1 strains isolated from migratory birds in Alaska, Japan, and Russia were consistent with those of previously identified virulent viruses. These data therefore provide no support for these strains contributing to the emergence of avian pathogens. The estimated mutation rates for fusion genes of class I and class II wild-bird isolates were faster than those reported previously for non-virulent APMV-1 strains. Collectively, these findings provide new insight into the diversity, spread, and evolution of APMV-1 in wild birds.

  13. Genetic diversity and mutation of avian paramyxovirus serotype 1 (Newcastle disease virus) in wild birds and evidence for intercontinental spread.

    Science.gov (United States)

    Ramey, Andrew M; Reeves, Andrew B; Ogawa, Haruko; Ip, Hon S; Imai, Kunitoshi; Bui, Vuong Nghia; Yamaguchi, Emi; Silko, Nikita Y; Afonso, Claudio L

    2013-12-01

    Avian paramyxovirus serotype 1 (APMV-1), or Newcastle disease virus, is the causative agent of Newcastle disease, one of the most economically important diseases for poultry production worldwide and a cause of periodic epizootics in wild birds in North America. In this study, we examined the genetic diversity of APMV-1 isolated from migratory birds sampled in Alaska, Japan, and Russia and assessed the evidence for intercontinental virus spread using phylogenetic methods. Additionally, we predicted viral virulence using deduced amino acid residues for the fusion protein cleavage site and estimated mutation rates for the fusion gene of class I and class II migratory bird isolates. All 73 isolates sequenced as part of this study were most closely related to virus genotypes previously reported for wild birds; however, five class II genotype I isolates formed a monophyletic clade exhibiting previously unreported genetic diversity, which met criteria for the designation of a new sub-genotype. Phylogenetic analysis of wild-bird isolates provided evidence for intercontinental virus spread, specifically viral lineages of APMV-1 class II genotype I sub-genotypes Ib and Ic. This result supports migratory bird movement as a possible mechanism for the redistribution of APMV-1. None of the predicted deduced amino acid motifs for the fusion protein cleavage site of APMV-1 strains isolated from migratory birds in Alaska, Japan, and Russia were consistent with those of previously identified virulent viruses. These data therefore provide no support for these strains contributing to the emergence of avian pathogens. The estimated mutation rates for fusion genes of class I and class II wild-bird isolates were faster than those reported previously for non-virulent APMV-1 strains. Collectively, these findings provide new insight into the diversity, spread, and evolution of APMV-1 in wild birds.

  14. Empirically supported treatments in psychotherapy: towards an evidence-based or evidence-biased psychology in clinical settings?

    Directory of Open Access Journals (Sweden)

    Gianluca Castelnuovo

    2010-07-01

    Full Text Available The field of research and practice in psychotherapy has been deeply influenced by two different approaches: the empirically supported treatments (ESTs movement, linked with the evidence-based medicine (EBM perspective and the “Common Factors” approach, typically connected with the “Dodo Bird Verdict”. About the first perspective, since 1998 a list of ESTs has been established in mental health field. Criterions for “well-established” and “probably efficacious” treatments have arisen. The development of these kinds of paradigms was motivated by the emergence of a “managerial” approach and related systems for remuneration also for mental health providers and for insurance companies. In this article ESTs will be presented underlining also some possible criticisms. Finally complementary approaches, that could add different evidence in the psychotherapy research in comparison with traditional EBM approach, are presented.

  15. Genetic evidence for causal relationships between maternal obesity-related traits and birth weight

    Science.gov (United States)

    Tyrrell, Jessica; Richmond, Rebecca C.; Palmer, Tom M.; Feenstra, Bjarke; Rangarajan, Janani; Metrustry, Sarah; Cavadino, Alana; Paternoster, Lavinia; Armstrong, Loren L.; De Silva, N. Maneka G.; Wood, Andrew R.; Horikoshi, Momoko; Geller, Frank; Myhre, Ronny; Bradfield, Jonathan P.; Kreiner-Møller, Eskil; Huikari, Ville; Painter, Jodie N.; Hottenga, Jouke-Jan; Allard, Catherine; Berry, Diane J.; Bouchard, Luigi; Das, Shikta; Evans, David M.; Hakonarson, Hakon; Hayes, M. Geoffrey; Heikkinen, Jani; Hofman, Albert; Knight, Bridget; Lind, Penelope A.; McCarthy, Mark I.; McMahon, George; Medland, Sarah E.; Melbye, Mads; Morris, Andrew P.; Nodzenski, Michael; Reichetzeder, Christoph; Ring, Susan M.; Sebert, Sylvain; Sengpiel, Verena; Sørensen, Thorkild I.A.; Willemsen, Gonneke; de Geus, Eco J. C.; Martin, Nicholas G.; Spector, Tim D.; Power, Christine; Järvelin, Marjo-Riitta; Bisgaard, Hans; Grant, Struan F.A.; Nohr, Ellen A.; Jaddoe, Vincent W.; Jacobsson, Bo; Murray, Jeffrey C.; Hocher, Berthold; Hattersley, Andrew T.; Scholtens, Denise M.; Smith, George Davey; Hivert, Marie-France; Felix, Janine F.; Hyppönen, Elina; Lowe, William L.; Frayling, Timothy M.; Lawlor, Debbie A.; Freathy, Rachel M.

    2016-01-01

    Structured abstract Importance Neonates born to overweight/obese women are larger and at higher risk of birth complications. Many maternal obesity-related traits are observationally associated with birth weight, but the causal nature of these associations is uncertain. Objective To test for genetic evidence of causal associations of maternal body mass index (BMI) and related traits with birth weight. Design, Setting and Participants We used Mendelian randomization to test whether maternal BMI and obesity-related traits are causally related to offspring birth weight. Mendelian randomization makes use of the fact that genotypes are randomly determined at conception and are thus not confounded by non-genetic factors. Data were analysed on 30,487 women from 18 studies. Participants were of European ancestry from population- or community-based studies located in Europe, North America or Australia and participating in the Early Growth Genetics (EGG) Consortium. Live, term, singleton offspring born between 1929 and 2013 were included. We tested associations between a genetic score of 30 BMI-associated single nucleotide polymorphisms (SNPs) and (i) maternal BMI and (ii) birth weight, to estimate the causal relationship between BMI and birth weight. Analyses were repeated for other obesity-related traits. Exposures Genetic scores for BMI, fasting glucose level, type 2 diabetes, systolic blood pressure (SBP), triglyceride level, HDL-cholesterol level, vitamin D status and adiponectin level. Main Outcome(s) and Measure(s) Offspring birth weight measured by trained study personnel (n=2 studies), from medical records (n= 10 studies) or from maternal report (n=6 studies). Results Among the 30,487 newborns the mean birth weight in the various cohorts ranged from 3325 g to 3679 g. The genetic score for BMI was associated with a 2g (95%CI: 0, 3g) higher offspring birth weight per maternal BMI-raising allele (P=0.008). The maternal genetic scores for fasting glucose and SBP were

  16. Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity.

    Science.gov (United States)

    Kelsell, D P; Stevens, H P; Ratnavel, R; Bryant, S P; Bishop, D T; Leigh, I M; Spurr, N K

    1995-06-01

    The palmoplantar keratodermas (PPK) are a group of skin diseases characterized by thickening of the skin of the palms and soles due to abnormal keratinization. We have performed linkage analysis on families affected with three distinct forms of non-epidermolytic PPK (NEPPK): focal, diffuse and punctate. Genetic heterogeneity was demonstrated, with focal NEPPK linked to the region on chromosome 17 harbouring the type I keratin cluster, diffuse NEPPK linked to the region on chromosome 12 containing the type II keratin cluster, and in the punctate NEPPK pedigrees, linkage was excluded to both of these keratin clusters. This study provides evidence for genetic differences between these forms of NEPPK and also between NEPPK and epidermolytic PPK (EPPK) in which mutations in keratin 9 have been demonstrated.

  17. Are advertisements in dental journals supported by an appropriate evidence-base?

    Science.gov (United States)

    Chestnutt, Ivor G; Hardy, Robert

    2013-09-01

    Dental professionals are constantly exposed to advertisements in the dental literature. These promote products, either for use in the operatory or to recommend to patients. In an era of evidence-based practice, what references are provided to support claims made by the advertisers? This study aimed to determine if advertisements in four major dental journals, whose target audience is general dental practitioners, were supported by an appropriate evidence-base, readily accessible to readers. The 2010 printed volumes of the Australian Dental Journal, British Dental Journal, Dental Update and the Journal of the American Dental Association were hand searched to identify advertisements which made a claim of clinical benefit or superiority to competing products. Advertisements were categorized according to type of product being promoted and the availability, nature and number of any supporting references was recorded. Repeated advertisements were analyzed only once. A total of 390 advertisements were identified and 369 made a claim of benefit or superiority. When the 222 duplicates of the same advertisement were removed, 147 unique advertisements remained. Of these: 54 (37%) were advertisements related to dental devices for in-surgery use; 44 (30%) for dental materials, and 27 (18%) for dentifrices/medicaments. 113 (76.9%) advertisements offered no evidential support for claims made. Of the 34 advertisements that provided evidential support, only 20 provided a complete reference that could readily be sourced by an interested reader: 15 articles in refereed journals; 5 data on file; 3 in-house studies and combinations thereof. Four references were not accessible due to incomplete referencing. Two advertisements provided evidence that was not relevant to the product being advertised. The majority of advertisements in the dental literature do not provide an adequate evidence-base, readily available to readers, to support the claims being made. If evidence-based practice is

  18. Methylenetetrahydrofolate reductase gene C677T polymorphism and breast cancer risk: Evidence for genetic susceptibility.

    Science.gov (United States)

    Kumar, Pradeep; Yadav, Upendra; Rai, Vandana

    2015-12-01

    There are several evidences supporting the role of 5-10 methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms in breast cancer (BC). Case control association studies on breast cancer have been repeatedly performed over the last two decades, but results are inconsistent. We performed a meta-analysis to confirm the association between MTHFR C677T polymorphism and BC risk. The articles were retrieved by searching the PubMed, Google Scholar, and Springer Link databases. Crude odds ratios (OR) with 95% confidence intervals (CIs) was used to assess the strength of association between C677T polymorphism and BC. Publication bias was assessed by Egger's and Begg-Mazumdar tests. Meta-analysis was performed with Open Meta Analyst. Total 75 studies with 31,315 cases and 35, 608 controls were found suitable for the inclusion in the present meta-analysis. The results of meta-analysis suggested that there were moderate significant association between C677T polymorphism and BC risk using overall comparisons in five genetic models (T vs. C: OR = 1.08, 95% CI = 1.03-1.13, p = < 0.001; TT + CT vs. CC: OR = 1.06, 95% CI = 1.02-1.09, p = < 0.001; TT vs. CC: OR = 1.17, 95% CI = 1.06-1.28, p = 0.001; CT vs. CC OR = 1.05, 95% CI = 1.01-1.08, p = 0.005; TT vs. CT + CC: OR = 1.12, 95% CI = 1.03-1.22, p = 0.005). In conclusion, results of present meta-analysis showed modest association between MTHFR C677T polymorphism with breast cancer in total studies. However, sub-group analysis results based on ethnicity showed strong significant association between TT genotype and breast cancer (TT vs. CC; OR°=°1.26; 95% CI: 1.06-1.51; p = 0.009) in Asian population but in Caucasian population such association was not observed (TT vs. CC; OR°=°1.08; 95% CI: 0.99-1.14; p = 0.05).

  19. Genetic anthropology of the colorectal cancer-susceptibility allele APC I1307K: evidence of genetic drift within the Ashkenazim.

    Science.gov (United States)

    Niell, Bethany L; Long, Jeffrey C; Rennert, Gad; Gruber, Stephen B

    2003-12-01

    The adenomatous polyposis coli (APC) I1307K allele is found in 6% of the Ashkenazi Jewish population and in 1%-2% of Sephardi Jews; it confers a relative risk of 1.5-2.0 for colorectal cancer (CRC) on all carriers. Within the Ashkenazim, the existence of numerous high-prevalence mutations, including I1307K, has sparked controversy over whether genetic drift or selection is the underlying cause. For the present population-based case-control study of CRC in Israel, we tested whether selection has operated at I1307K. We also estimated the age of the I1307K allele, to understand its origin in the context of the Jewish diasporas and subsequent founder events. We genotyped 83 matched pairs, in which one or both members of the pair carried I1307K, at three microsatellites and two SNPs. Haplotypes were statistically constructed using PHASE software. Single-marker age estimates for I1307K were calculated using the approach described by Risch et al. A common progenitor haplotype spanned across APC I1307K from the centromeric marker D5S135 to the telomeric marker D5S346 and was observed in individuals of Ashkenazi, Sephardi, and Arab descent. The ancestor of modern I1307K alleles existed 87.9-118 generations ago ( approximately 2,200-2,950 years ago). This age estimate indicates that I1307K existed at about the time of the beginning of the Jewish diaspora, explaining its presence in non-Ashkenazi populations. Our data do not indicate that selection operated at I1307K (D5S346, P=.114; D5S135, P=.373), providing compelling evidence that the high frequency of disease-susceptibility alleles in the Ashkenazim is due to genetic drift, not selection. This research underscores the importance of the migratory patterns of ancestral populations in the ethnic and geographic distribution of APC I1307K.

  20. 22 CFR 1423.4 - Contents of the charge; supporting evidence and documents.

    Science.gov (United States)

    2010-04-01

    ... RELATIONS AUTHORITY UNFAIR LABOR PRACTICE PROCEEDINGS § 1423.4 Contents of the charge; supporting evidence... alleged unfair labor practice, a statement of the section(s) and subsection(s) of chapter 41 of title 22... Disputes Panel or the Foreign Service Grievance Board for consideration or action; or (iii) involves...

  1. Evidence Supporting an Early as Well as Late Heavy Bombardment on the Moon

    Science.gov (United States)

    Frey, Herbert

    2015-01-01

    Evidence supporting an intense early bombardment on the Moon in addition to the traditional Late Heavy Bombardment at approx. 4 BY ago include the distribution of N(50) Crater Retention Ages (CRAs) for candidate basins, a variety of absolute age scenarios for both a "young" and an "old" Nectaris age, and the decreasing contrasts in both topographic relief and Bouguer gravity with increasing CRA.

  2. Brief Report: An Independent Replication and Extension of Psychometric Evidence Supporting the Theory of Mind Inventory

    Science.gov (United States)

    Greenslade, Kathryn J.; Coggins, Truman E.

    2016-01-01

    This study presents an independent replication and extension of psychometric evidence supporting the "Theory of Mind Inventory" ("ToMI"). Parents of 20 children with ASD (4; 1-6; 7 years; months) and 20 with typical development (3; 1-6; 5), rated their child's theory of mind abilities in everyday situations. Other parent report…

  3. Addressing Interpersonal Violence in the School Context: Awareness and Use of Evidence-Supported Programs

    Science.gov (United States)

    Cawood, Natalie Diane

    2013-01-01

    A cross-sectional, Web-based survey was completed by 250 members of the School Social Work Association of America. This article addresses the research-practice gap in the delivery of mental health services in the school setting by examining the extent to which evidence-supported school violence intervention programs (ESPs) are known and used by…

  4. Barriers to the Use of Evidence-Supported Programs to Address School Violence

    Science.gov (United States)

    Cawood, Natalie Diane

    2010-01-01

    Researchers have argued that there is a research-practice gap in the delivery of prevention and mental health services in the school setting. This national survey addresses that gap by identifying the barriers confronted by school social workers in implementing evidence-supported programs to address interpersonal violence in the school context. A…

  5. [Evidence in support of Florence Nightingale's theories. 100 years after her death].

    Science.gov (United States)

    Zapico Yáñez, Florentina

    2010-05-01

    This article has been written to pay homage to Florence Nightingale as a pioneer and beacon for scientific curiosity which should serve as the nursing professional's guide for fine praxis. For this purpose, the author studied the evidence regarding Ms Nightingale's supposed theories; these have been arranged into four large groups in order to make those findings which support her theories easier to understand.

  6. Analysis of Evidence Supporting the Educational Leadership Constituent Council 2011 Educational Leadership Program Standards

    Science.gov (United States)

    Tucker, Pamela D.; Anderson, Erin; Reynolds, Amy L.; Mawhinney, Hanne

    2016-01-01

    This document analysis provides a summary of the research from high-impact journals published between 2008 and 2013 with the explicit purpose of determining the extent to which the current empirical evidence supports the individual 2011 Educational Leadership Constituent Council Program Standards and their elements. We found that the standards are…

  7. Evidence for peer support in rehabilitation for individuals with acquired brain injury: A systematic review.

    Science.gov (United States)

    Wobma, Ruth; Nijland, Rinske H M; Ket, Johannes C F; Kwakkel, Gert

    2016-11-11

    To systematically review the literature on evidence for the application of peer support in the rehabilitation of persons with acquired brain injury. PubMed, Embase.com, Ebsco/Cinahl, Ebsco/PsycInfo and Wiley/Cochrane Library were searched from inception up to 19 June 2015. Randomized controlled trials were included describing participants with acquired brain injury in a rehabilitation setting and peer supporters who were specifically assigned to this role. Two independent reviewers assessed metho-dological quality using the PEDro scale. Cohen's kappa was calculated to assess agreement between the reviewers. Two randomized controlled trials could be included, both focussing on patients with traumatic brain injury. The randomized controlled trials included a total of 126 participants with traumatic brain injury and 62 care-givers and suggest a positive influence of peer support for traumatic brain injury survivors and their caregivers in areas of social support, coping, behavioural control and physical quality of life. The evidence for peer support is limited and restricted to traumatic brain injury. Randomized controlled trials on peer support for patients with other causes of acquired brain injury are lacking. It is important to gain more insight into the effects of peer support and the influence of patient and peer characteristics and the intervention protocol.

  8. Evidence to support IL-13 as a risk locus for psoriatic arthritis but not psoriasis vulgaris.

    LENUS (Irish Health Repository)

    Bowes, John

    2011-06-01

    There is great interest in the identification of genetic factors that differentiate psoriatic arthritis (PsA) from psoriasis vulgaris (PsV), as such discoveries could lead to the identification of distinct underlying aetiological pathways. Recent studies identified single nucleotide polymorphisms (SNPs) in the interleukin 13 (IL-13) gene region as risk factors for PsV. Further investigations in one of these studies found the effect to be primarily restricted to PsA, thus suggesting the discovery of a specific genetic risk factor for PsA. Given this intriguing evidence, association to this gene was investigated in large collections of PsA and PsV patients and healthy controls.

  9. Automatic indexing and retrieval of encounter-specific evidence for point-of-care support.

    Science.gov (United States)

    O'Sullivan, Dympna M; Wilk, Szymon A; Michalowski, Wojtek J; Farion, Ken J

    2010-08-01

    Evidence-based medicine relies on repositories of empirical research evidence that can be used to support clinical decision making for improved patient care. However, retrieving evidence from such repositories at local sites presents many challenges. This paper describes a methodological framework for automatically indexing and retrieving empirical research evidence in the form of the systematic reviews and associated studies from The Cochrane Library, where retrieved documents are specific to a patient-physician encounter and thus can be used to support evidence-based decision making at the point of care. Such an encounter is defined by three pertinent groups of concepts - diagnosis, treatment, and patient, and the framework relies on these three groups to steer indexing and retrieval of reviews and associated studies. An evaluation of the indexing and retrieval components of the proposed framework was performed using documents relevant for the pediatric asthma domain. Precision and recall values for automatic indexing of systematic reviews and associated studies were 0.93 and 0.87, and 0.81 and 0.56, respectively. Moreover, precision and recall for the retrieval of relevant systematic reviews and associated studies were 0.89 and 0.81, and 0.92 and 0.89, respectively. With minor modifications, the proposed methodological framework can be customized for other evidence repositories.

  10. Evidence-informed health policy 4 – Case descriptions of organizations that support the use of research evidence

    Directory of Open Access Journals (Sweden)

    Oxman Andrew D

    2008-12-01

    Full Text Available Abstract Background Previous efforts to produce case descriptions have typically not focused on the organizations that produce research evidence and support its use. External evaluations of such organizations have typically not been analyzed as a group to identify the lessons that have emerged across multiple evaluations. Case descriptions offer the potential for capturing the views and experiences of many individuals who are familiar with an organization, including staff, advocates, and critics. Methods We purposively sampled a subgroup of organizations from among those that participated in the second (interview phase of the study and (once from among other organizations with which we were familiar. We developed and pilot-tested a case description data collection protocol, and conducted site visits that included both interviews and documentary analyses. Themes were identified from among responses to semi-structured questions using a constant comparative method of analysis. We produced both a brief (one to two pages written description and a video documentary for each case. Results We conducted 51 interviews as part of the eight site visits. Two organizational strengths were repeatedly cited by individuals participating in the site visits: use of an evidence-based approach (which was identified as being very time-consuming and existence of a strong relationship between researchers and policymakers (which can be challenged by conflicts of interest. Two organizational weaknesses – a lack of resources and the presence of conflicts of interest – were repeatedly cited by individuals participating in the site visits. Participants offered two main suggestions for the World Health Organization (and other international organizations and networks: 1 mobilize one or more of government support, financial resources, and the participation of both policymakers and researchers; and 2 create knowledge-related global public goods. Conclusion The findings from

  11. Morphological and genetic evidence for early Holocene cattle management in northeastern China

    DEFF Research Database (Denmark)

    Zhang, Hucai; Paijmans, Johanna L A; Chang, Fengqin

    2013-01-01

    The domestication of cattle is generally accepted to have taken place in two independent centres: around 10,500 years ago in the Near East, giving rise to modern taurine cattle, and two millennia later in southern Asia, giving rise to zebu cattle. Here we provide firmly dated morphological...... and genetic evidence for early Holocene management of taurine cattle in northeastern China. We describe conjoining mandibles from this region that show evidence of oral stereotypy, dated to the early Holocene by two independent (14)C dates. Using Illumina high-throughput sequencing coupled with DNA...... hybridization capture, we characterize 15,406 bp of the mitogenome with on average 16.7-fold coverage. Phylogenetic analyses reveal a hitherto unknown mitochondrial haplogroup that falls outside the known taurine diversity. Our data suggest that the first attempts to manage cattle in northern China predate...

  12. SUPPORT Tools for evidence-informed health Policymaking (STP) 12: Finding and using research evidence about resource use and costs.

    Science.gov (United States)

    Oxman, Andrew D; Fretheim, Atle; Lavis, John N; Lewin, Simon

    2009-12-16

    This article is part of a series written for people responsible for making decisions about health policies and programmes and for those who support these decision makers. In this article, we address considerations about resource use and costs. The consequences of a policy or programme option for resource use differ from other impacts (both in terms of benefits and harms) in several ways. However, considerations of the consequences of options for resource use are similar to considerations related to other impacts in that policymakers and their staff need to identify important impacts on resource use, acquire and appraise the best available evidence regarding those impacts, and ensure that appropriate monetary values have been applied. We suggest four questions that can be considered when assessing resource use and the cost consequences of an option. These are: 1. What are the most important impacts on resource use? 2. What evidence is there for important impacts on resource use? 3. How confident is it possible to be in the evidence for impacts on resource use? 4. Have the impacts on resource use been valued appropriately in terms of their true costs?

  13. Plant genetics affects arthropod community richness and composition: evidence from a synthetic eucalypt hybrid population.

    Science.gov (United States)

    Dungey, H S; Potts, B M; Whitham, T G; Li, H F

    2000-12-01

    To examine how genetic variation in a plant population affects arthropod community richness and composition, we quantified the arthropod communities on a synthetic population of Eucalyptus amygdalina, E. risdonii, and their F1 and advanced-generation hybrids. Five major patterns emerged. First, the pure species and hybrid populations supported significantly different communities. Second, species richness was significantly greatest on hybrids (F1 > F2 > E. amygdalina > E. risdonii). These results are similar to those from a wild population of the same species and represent the first case in which both synthetic and wild population studies confirm a genetic component to community structure. Hybrids also acted as centers of biodiversity by accumulating both the common and specialist taxa of both parental species (100% in the wild and 80% in the synthetic population). Third, species richness was significantly greater on F1s than the single F2 family, suggesting that the increased insect abundance on hybrids may not be caused by the breakup of coadapted gene complexes. Fourth, specialist arthropod taxa were most likely to show a dominance response to F1 hybrids, whereas generalist taxa exhibited a susceptible response. Fifth, in an analysis of 31 leaf terpenoids that are thought to play a role in plant defense, hybrids were generally intermediate to the parental chemotypes. Within the single F2 family, we found significant associations between the communities of individual trees and five individual oil components, including oil yield, demonstrating that there is a genetic effect on plant defensive chemistry that, in turn, may affect community structure. These studies argue that hybridization has important community-level consequences and that the genetic variation present in hybrid zones can be used to explore the genetic-based mechanisms that structure communities.

  14. Androgenetic alopecia: identification of four genetic risk loci and evidence for the contribution of WNT signaling to its etiology.

    Science.gov (United States)

    Heilmann, Stefanie; Kiefer, Amy K; Fricker, Nadine; Drichel, Dmitriy; Hillmer, Axel M; Herold, Christine; Tung, Joyce Y; Eriksson, Nicholas; Redler, Silke; Betz, Regina C; Li, Rui; Kárason, Ari; Nyholt, Dale R; Song, Kijoung; Vermeulen, Sita H; Kanoni, Stavroula; Dedoussis, George; Martin, Nicholas G; Kiemeney, Lambertus A; Mooser, Vincent; Stefansson, Kari; Richards, J Brent; Becker, Tim; Brockschmidt, Felix F; Hinds, David A; Nöthen, Markus M

    2013-06-01

    The pathogenesis of androgenetic alopecia (AGA, male-pattern baldness) is driven by androgens, and genetic predisposition is the major prerequisite. Candidate gene and genome-wide association studies have reported that single-nucleotide polymorphisms (SNPs) at eight different genomic loci are associated with AGA development. However, a significant fraction of the overall heritable risk still awaits identification. Furthermore, the understanding of the pathophysiology of AGA is incomplete, and each newly associated locus may provide novel insights into contributing biological pathways. The aim of this study was to identify unknown AGA risk loci by replicating SNPs at the 12 genomic loci that showed suggestive association (5 × 10(-8)genetic evidence supporting an involvement of WNT signaling in AGA development.

  15. Molecular genetics of cystinuria: Identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity

    Energy Technology Data Exchange (ETDEWEB)

    Gasparini, P.; Bisceglia, L.; Notarangelo, A. [Servizio di Genetica Medica, San Giovanni Rotondo (Italy)] [and others

    1995-10-01

    A cystinuria disease gene (rBAT) has been recently identified, and some mutations causing the disease have been described. The frequency of these mutations has been investigated in a large sample of 51 Italian and Spanish cystinuric patients. In addition, to identify new mutated alleles, genomic DNA has been analyzed by an accurate and sensitive method able to detect nucleotide changes. Because of the lack of information available on the genomic structure of rBAT gene, the study was carried out using the sequence data so far obtained by us. More than 70% of the entire coding sequence and 8 intron-exon boundaries have been analyzed. Four new mutations and seven intragenic polymorphisms have been detected. All mutations so far identified in rBAT belong only to cystinuria type I alleles, accounting for {approximately} 44% of all type I cystinuric chromosomes. Mutation M467T is the most common mutated allele in the Italian and Spanish populations. After analysis of 70% of the rBAT coding region, we have detected normal sequences in cystinuria type II and type III chromosomes. The presence of rBAT mutated alleles only in type I chromosomes of homozygous (type I/I) and heterozygous (type I/III) patients provides evidence for genetic heterogeneity where rBAT would be responsible only for type I cystinuria and suggests a complementation mechanism to explain the intermediate type I/type III phenotype. 25 refs., 1 fig., 3 tabs.

  16. One size fits all? Direct evidence for the heterogeneity of genetic drift throughout the genome.

    Science.gov (United States)

    Jiménez-Mena, Belén; Tataru, Paula; Brøndum, Rasmus F; Sahana, Goutam; Guldbrandtsen, Bernt; Bataillon, Thomas

    2016-07-01

    Effective population size (Ne) is a central parameter in population and conservation genetics. It measures the magnitude of genetic drift, rates of accumulation of inbreeding in a population, and it conditions the efficacy of selection. It is often assumed that a single Ne can account for the evolution of genomes. However, recent work provides indirect evidence for heterogeneity in Ne throughout the genome. We study this by examining genome-wide diversity in the Danish Holstein cattle breed. Using the differences in allele frequencies over a single generation, we directly estimated Ne among autosomes and smaller windows within autosomes. We found statistically significant variation in Ne at both scales. However, no correlation was found between the detected regional variability in Ne, and proxies for the intensity of linked selection (local recombination rate, gene density), or the presence of either past strong selection or current artificial selection on traits of economic value. Our findings call for further caution regarding the wide applicability of the Ne concept for understanding quantitatively processes such as genetic drift and accumulation of consanguinity in both natural and managed populations.

  17. Genetic Evidence Highlights Potential Impacts of By-Catch to Cetaceans

    Science.gov (United States)

    Mendez, Martin; Rosenbaum, Howard C.; Wells, Randall S.; Stamper, Andrew; Bordino, Pablo

    2010-01-01

    Incidental entanglement in fishing gear is arguably the most serious threat to many populations of small cetaceans, judging by the alarming number of captured animals. However, other aspects of this threat, such as the potential capture of mother-offspring pairs or reproductive pairs, could be equally or even more significant but have rarely been evaluated. Using a combination of demographic and genetic data we provide evidence that i) Franciscana dolphin pairs that are potentially reproductive and mother-offspring pairs form temporal bonds, and ii) are entangled simultaneously. Our results highlight potential demographic and genetic impacts of by-catch to cetacean populations: the joint entanglement of mother-offspring or reproductive pairs, compared to random individuals, might exacerbate the demographic consequences of by-catch, and the loss of groups of relatives means that significant components of genetic diversity could be lost together. Given the social nature of many odontocetes (toothed cetaceans), we suggest that these potential impacts could be rather general to the group and therefore by-catch could be more detrimental than previously considered. PMID:21179542

  18. Lipoprotein(a) and risk of myocardial infarction--genetic epidemiologic evidence of causality

    DEFF Research Database (Denmark)

    Kamstrup, Pia R; Tybjærg-Hansen, Anne; Nordestgaard, Børge G

    2011-01-01

    Elevated levels of lipoprotein(a) are associated with an increased risk of myocardial infarction. Our study aimed to test whether genetic data are consistent with this association being causal. Accordingly, we developed a high-throughput realtime PCR assay to genotype for the lipoprotein(a) kringle...... effect on plasma levels of lipoprotein(a). The association of LPA KIV-2 genotypes raising plasma levels of lipoprotein(a) with increased risk of myocardial infarction strongly supports a causal association of lipoprotein(a) with risk of myocardial infarction....

  19. Indirect Evidence for Genetic Differentiation in Vulnerability to Embolism in Pinus halepensis.

    Science.gov (United States)

    David-Schwartz, Rakefet; Paudel, Indira; Mizrachi, Maayan; Delzon, Sylvain; Cochard, Hervé; Lukyanov, Victor; Badel, Eric; Capdeville, Gaelle; Shklar, Galina; Cohen, Shabtai

    2016-01-01

    Climate change is increasing mean temperatures and in the eastern Mediterranean is expected to decrease annual precipitation. The resulting increase in aridity may be too rapid for adaptation of tree species unless their gene pool already possesses variation in drought resistance. Vulnerability to embolism, estimated by the pressure inducing 50% loss of xylem hydraulic conductivity (P 50), is strongly associated with drought stress resistance in trees. Yet, previous studies on various tree species reported low intraspecific genetic variation for this trait, and therefore limited adaptive capacities to increasing aridity. Here we quantified differences in hydraulic efficiency (xylem hydraulic conductance) and safety (resistance to embolism) in four contrasting provenances of Pinus halepensis (Aleppo pine) in a provenance trial, which is indirect evidence for genetic differences. Results obtained with three techniques (bench dehydration, centrifugation and X-ray micro-CT) evidenced significant differentiation with similar ranking between provenances. Inter-provenance variation in P 50 correlated with pit anatomical properties (torus overlap and pit aperture size). These results suggest that adaptation of P. halepensis to xeric habitats has been accompanied by modifications of bordered pit function driven by variation in pit aperture. This study thus provides evidence that appropriate exploitation of provenance differences will allow continued forestry with P. halepensis in future climates of the Eastern Mediterranean.

  20. Indirect evidence for genetic differentiation in vulnerability to embolism in Pinus halepensis

    Directory of Open Access Journals (Sweden)

    Rakefet eDavid-Schwartz

    2016-06-01

    Full Text Available Climate change is increasing mean temperatures and in the eastern Mediterranean is expected to decrease annual precipitation. The resulting increase in aridity may be too rapid for adaptation of tree species unless their gene pool already possesses variation in drought resistance. Vulnerability to embolism, estimated by the pressure inducing 50% loss of xylem hydraulic conductivity (P50, is strongly associated with drought stress resistance in trees. Yet, previous studies on various tree species reported low intraspecific genetic variation for this trait, and therefore limited adaptive capacities to increasing aridity. Here we quantified differences in hydraulic efficiency (xylem hydraulic conductance and safety (resistance to embolism in four contrasting provenances of Pinus halepensis (Aleppo pine in a provenance trial, which is indirect evidence for genetic differences. Results obtained with three techniques (bench dehydration, centrifugation and X-ray micro-CT evidenced significant differentiation with similar ranking between provenances. Inter-provenance variation in P50 correlated with pit anatomical properties (torus overlap and pit aperture size. These results suggest that adaptation of P. halepensis to xeric habitats has been accompanied by modifications of bordered pit function driven by variation in pit aperture. This study thus provides evidence that appropriate exploitation of provenance differences will allow continued forestry with P. halepensis in future climates of the Eastern Mediterranean.

  1. The 'fractionable autism triad': a review of evidence from behavioural, genetic, cognitive and neural research.

    Science.gov (United States)

    Happé, Francesca; Ronald, Angelica

    2008-12-01

    Autism is diagnosed on the basis of a triad of impairments in social interaction, communication, and flexible imaginative functions (with restricted and repetitive behaviors and interests; RRBIs). There has been a strong presumption that these different features of the syndrome are strongly intertwined and proceed from a common cause at the genetic, cognitive and neural levels. In this review we examine evidence for an alternative approach, considering the triad as largely 'fractionable'. We present evidence from our own twin studies, and review relevant literature on autism and autistic-like traits in other groups. We suggest that largely independent genes may operate on social skills/impairments, communication abilities, and RRBIs, requiring a change in molecular-genetic research approaches. At the cognitive level, we suggest that satisfactory accounts exist for each of the triad domains, but no single unitary account can explain both social and nonsocial features of autism. We discuss the implications of the fractionable-triad approach for both diagnosis and future research directions.

  2. Genetic structure and bio-climatic modeling support allopatric over parapatric speciation along a latitudinal gradient

    Directory of Open Access Journals (Sweden)

    Rossetto Maurizio

    2012-08-01

    Full Text Available Abstract Background Four of the five species of Telopea (Proteaceae are distributed in a latitudinal replacement pattern on the south-eastern Australian mainland. In similar circumstances, a simple allopatric speciation model that identifies the origins of genetic isolation within temporal geographic separation is considered as the default model. However, secondary contact between differentiated lineages can result in similar distributional patterns to those arising from a process of parapatric speciation (where gene flow between lineages remains uninterrupted during differentiation. Our aim was to use the characteristic distributional patterns in Telopea to test whether it reflected the evolutionary models of allopatric or parapatric speciation. Using a combination of genetic evidence and environmental niche modelling, we focused on three main questions: do currently described geographic borders coincide with genetic and environmental boundaries; are there hybrid zones in areas of secondary contact between closely related species; did species distributions contract during the last glacial maximum resulting in distributional gaps even where overlap and hybridisation currently occur? Results Total genomic DNA was extracted from 619 individuals sampled from 36 populations representing the four species. Seven nuclear microsatellites (nSSR and six chloroplast microsatellites (cpSSR were amplified across all populations. Genetic structure and the signature of admixture in overlap zones was described using the Bayesian clustering methods implemented in STUCTURE and NewHybrids respectively. Relationships between chlorotypes were reconstructed as a median-joining network. Environmental niche models were produced for all species using environmental parameters from both the present day and the last glacial maximum (LGM. The nSSR loci amplified a total of 154 alleles, while data for the cpSSR loci produced a network of six chlorotypes. STRUCTURE revealed

  3. Identification of handwriting by using the genetic algorithm (GA) and support vector machine (SVM)

    Science.gov (United States)

    Zhang, Qigui; Deng, Kai

    2016-12-01

    As portable digital camera and a camera phone comes more and more popular, and equally pressing is meeting the requirements of people to shoot at any time, to identify and storage handwritten character. In this paper, genetic algorithm(GA) and support vector machine(SVM)are used for identification of handwriting. Compare with parameters-optimized method, this technique overcomes two defects: first, it's easy to trap in the local optimum; second, finding the best parameters in the larger range will affects the efficiency of classification and prediction. As the experimental results suggest, GA-SVM has a higher recognition rate.

  4. Application of support vector machine and quantum genetic algorithm in infrared target recognition

    Science.gov (United States)

    Wang, Hongliang; Huang, Yangwen; Ding, Haifei

    2010-08-01

    In this paper, a kind of classifier based on support vector machine (SVM) is designed for infrared target recognition. In allusion to the problem how to choose kernel parameter and error penalty factor, quantum genetic algorithm (QGA) is used to optimize the parameters of SVM model, it overcomes the shortcoming of determining its parameters after trial and error in the past. Classification experiments of infrared target features extracted by this method show that the convergence speed is fast and the rate of accurate recognition is high.

  5. Project management office in health care: a key strategy to support evidence-based practice change.

    Science.gov (United States)

    Lavoie-Tremblay, Mélanie; Bonneville-Roussy, Arielle; Richer, Marie-Claire; Aubry, Monique; Vezina, Michel; Deme, Mariama

    2012-01-01

    This article describes the contribution of a Transition Support Office (TSO) in a health care center in Canada to supporting changes in practice based on evidence and organizational performance in the early phase of a major organizational change. Semistructured individual interviews were conducted with 11 members of the TSO and 13 managers and clinicians from an ambulatory sector in the organization who received support from the TSO. The main themes addressed in the interviews were the description of the TSO, the context of implementation, and the impact. Using the Competing Value Framework by Quinn and Rohrbaugh [Public Product Rev. 1981;5(2):122-140], results revealed that the TSO is a source of expertise that facilitates innovation and implementation of change. It provides material support and human expertise for evidence-based projects. As a single organizational entity responsible for managing change, it gives a sense of cohesiveness. It also facilitates communication among human resources of the entire organization. The TSO is seen as an expertise provider that promotes competency development, training, and evidence-based practices. The impact of a TSO on change in practices and organizational performance in a health care system is discussed.

  6. Genetic evidence for multiple events of hybridization between wolves and domestic dogs in the Iberian Peninsula.

    Science.gov (United States)

    Godinho, Raquel; Llaneza, Luis; Blanco, Juan C; Lopes, Susana; Álvares, Francisco; García, Emilio J; Palacios, Vicente; Cortés, Yolanda; Talegón, Javier; Ferrand, Nuno

    2011-12-01

    Hybridization between wild species and their domestic counterparts may represent a major threat to natural populations. However, high genetic similarity between the hybridizing taxa makes the detection of hybrids a difficult task and may hinder attempts to assess the impact of hybridization in conservation biology. In this work, we used a combination of 42 autosomal microsatellites together with Y-chromosome microsatellite-defined haplotypes and mtDNA sequences to investigate the occurrence and dynamics of wolf-dog hybridization in the Iberian Peninsula. To do this, we applied a variety of Bayesian analyses and a parallel set of simulation studies to evaluate (i) the differences between Iberian wolves and dogs, (ii) the frequency and geographical distribution of hybridization and (iii) the directionality of hybridization. First, we show that Iberian wolves and dogs form two well-differentiated genetic entities, suggesting that introgressive hybridization is not a widespread phenomenon shaping both gene pools. Second, we found evidence for the existence of hybridization that is apparently restricted to more peripheral and recently expanded wolf populations. Third, we describe compelling evidence suggesting that the dynamics of hybridization in wolf populations is mediated by crosses between male dogs and female wolves. More importantly, the observation of a population showing the occurrence of a continuum of hybrid classes forming mixed packs may indicate that we have underestimated hybridization. If future studies confirm this pattern, then an intriguing avenue of research is to investigate how introgression from free-ranging domestic dogs is enabling wolf populations to adapt to the highly humanized habitats of southern Europe while still maintaining their genetic differentiation. © 2011 Blackwell Publishing Ltd.

  7. Identical twins in forensic genetics - Epidemiology and risk based estimation of weight of evidence.

    Science.gov (United States)

    Tvedebrink, Torben; Morling, Niels

    2015-12-01

    The increase in the number of forensic genetic loci used for identification purposes results in infinitesimal random match probabilities. These probabilities are computed under assumptions made for rather simple population genetic models. Often, the forensic expert reports likelihood ratios, where the alternative hypothesis is assumed not to encompass close relatives. However, this approach implies that important factors present in real human populations are discarded. This approach may be very unfavourable to the defendant. In this paper, we discuss some important aspects concerning the closest familial relationship, i.e., identical (monozygotic) twins, when reporting the weight of evidence. This can be done even when the suspect has no knowledge of an identical twin or when official records hold no twin information about the suspect. The derived expressions are not original as several authors previously have published results accounting for close familial relationships. However, we revisit the discussion to increase the awareness among forensic genetic practitioners and include new information on medical and societal factors to assess the risk of not considering a monozygotic twin as the true perpetrator. If accounting for a monozygotic twin in the weight of evidence, it implies that the likelihood ratio is truncated at a maximal value depending on the prevalence of monozygotic twins and the societal efficiency of recognising a monozygotic twin. If a monozygotic twin is considered as an alternative proposition, then data relevant for the Danish society suggests that the threshold of likelihood ratios should approximately be between 150,000 and 2,000,000 in order to take the risk of an unrecognised identical, monozygotic twin into consideration. In other societies, the threshold of the likelihood ratio in crime cases may reach other, often lower, values depending on the recognition of monozygotic twins and the age of the suspect. In general, more strictly kept

  8. Genetic Diversity and Evidence for Transmission of Streptococcus mutans by DiversiLab rep-PCR.

    Science.gov (United States)

    Momeni, Stephanie S; Whiddon, Jennifer; Cheon, Kyounga; Ghazal, Tariq; Moser, Stephen A; Childers, Noel K

    2016-09-01

    This two-part study investigated the genetic diversity and transmission of Streptococcus mutans using the DiversiLab repetitive extragenic palindromic PCR (rep-PCR) approach. For children with S. mutans and participating household members, analysis for evidence of unrelated child-to-child as well as intra-familial transmission was evaluated based on commonality of genotypes. A total of 169 index children and 425 household family members from Uniontown, Alabama were evaluated for genetic diversity using rep-PCR. Thirty-four unique rep-PCR genotypes were observed for 13,906 S. mutans isolates. For transmission, 117 child and household isolates were evaluated for shared genotype (by child and by genotype cases, multiple matches possible for each child). Overall, children had 1-9 genotypes and those with multiple genotypes were 2.3 times more likely to have caries experience (decayed, missing and filled teeth/surfaces>0). Only 28% of children shared all genotypes within the household, while 72% had at least 1 genotype not shared with anyone in the household. Children had genotype(s) not shared with any household members in 157 cases. In 158 cases children and household members shared a genotype in which 55% (87/158 cases) were shared with more than one family member. Children most frequently shared genotypes with their mothers (54%; 85/158), siblings (46%; 72/158) and cousins (23%; 37/158). A reference library for S. mutans for epidemiological surveillance using the DiversiLab rep-PCR approach is detailed. The genetic diversity of S. mutans in this population demonstrated frequent commonality of genotypes. Evidence for both child-to-child and intra-familial transmission of S. mutans was observed by rep-PCR.

  9. Community interventions providing care and support to orphans and vulnerable children: a review of evaluation evidence.

    Science.gov (United States)

    Schenk, Katie D

    2009-07-01

    Children affected by HIV in their families and communities face multiple risks to their health, education and psychosocial wellbeing. Community interventions for children who have been orphaned or rendered vulnerable take many forms, including educational assistance, home-based care, legal protection and psychosocial support. Despite a recent influx of funding for programme implementation, there exists little evidence to inform policymakers about whether their investments are improving the lives of vulnerable children and meeting key benchmarks including the Millennium Development Goals. This paper reviews the current evidence base on evaluations of community interventions for orphans and vulnerable children (OVC) in high HIV-prevalence African settings, focusing on studies' methodologies. Sources reviewed include published research studies and evidence from the unpublished programmatic "grey literature" located through database and internet searches. A total of 21 studies, varying in scope and generalisability, were identified. Interventions reviewed address children's wellbeing through various strategies within their communities. Evaluation methodologies reflect quantitative and qualitative approaches, including surveys (with and without baseline or comparison data), costing studies, focus groups, interviews, case studies, and participatory review techniques. Varied study methodologies reflect diverse research questions, various intervention types, and the challenges associated with evaluating complex interventions; highlighting the need to broaden the research paradigm in order to build the evidence base by including quasi-experimental and process evaluation approaches, and seeking further insights through participatory qualitative methodologies and costing studies. Although findings overall indicate the value of community interventions in effecting measurable improvements in child and family wellbeing, the quality and rigour of evidence is varied. A strategic

  10. Evidence-informed health policy 3 – Interviews with the directors of organizations that support the use of research evidence

    Directory of Open Access Journals (Sweden)

    Moynihan Ray

    2008-12-01

    Full Text Available Abstract Background Only a small number of previous efforts to describe the experiences of organizations that produce clinical practice guidelines (CPGs, undertake health technology assessments (HTAs, or directly support the use of research evidence in developing health policy (i.e., government support units, or GSUs have relied on interviews and then only with HTA agencies. Interviews offer the potential for capturing experiences in great depth, particularly the experiences of organizations that may be under-represented in surveys. Methods We purposively sampled organizations from among those who completed a questionnaire in the first phase of our three-phase study, developed and piloted a semi-structured interview guide, and conducted the interviews by telephone, audio-taped them, and took notes simultaneously. Binary or categorical responses to more structured questions were counted when possible. Themes were identified from among responses to semi-structured questions using a constant comparative method of analysis. Illustrative quotations were identified to supplement the narrative description of the themes. Results We interviewed the director (or his or her nominee in 25 organizations, of which 12 were GSUs. Using rigorous methods that are systematic and transparent (sometimes shortened to 'being evidence-based' was the most commonly cited strength among all organizations. GSUs more consistently described their close links with policymakers as a strength, whereas organizations producing CPGs, HTAs, or both had conflicting viewpoints about such close links. With few exceptions, all types of organizations tended to focus largely on weaknesses in implementation, rather than strengths. The advice offered to those trying to establish similar organizations include: 1 collaborate with other organizations; 2 establish strong links with policymakers and stakeholders; 3 be independent and manage conflicts of interest; 4 build capacity; 5 use good

  11. First evidence of intraclonal genetic exchange in trypanosomatids using two Leishmania infantum fluorescent transgenic clones.

    Directory of Open Access Journals (Sweden)

    Estefanía Calvo-Álvarez

    2014-09-01

    Full Text Available The mode of reproduction in Leishmania spp has been argued to be essentially clonal. However, recent data (genetic analysis of populations and co-infections in sand flies have proposed the existence of a non-obligate sexual cycle in the extracellular stage of the parasite within the sand fly vector. In this article we propose the existence of intraclonal genetic exchange in the natural vector of Leishmania infantum.We have developed transgenic L. infantum lines expressing drug resistance markers linked to green and red fluorescent reporters. We hypothesized whether those cells with identical genotype can recognize each other and mate. Both types of markers were successfully exchanged within the sand fly midgut of the natural vector Phlebotomus perniciosus when individuals from these species were fed with a mixture of parental clones. Using the yellow phenotype and drug resistance markers, we provide evidence for genetic exchange in L. infantum. The hybrid progeny appeared to be triploid based on DNA content analysis. The hybrid clone analyzed was stable throughout the complete parasite life cycle. The progress of infections by the hybrid clone in BALB/c mice caused a reduction in parasite loads in both spleen and liver, and provided weight values similar to those obtained with uninfected mice. Spleen arginase activity was also significantly reduced relative to parental strains.A L. infantum hybrid lineage was obtained from intraclonal genetic exchange within the midgut of the natural vector, suggesting the ability of this parasite to recognize the same genotype and mate. The yellow hybrid progeny is stable throughout the whole parasite life cycle but with a slower virulence, which correlates well with the lower arginase activity detected both in vitro and in vivo infections.

  12. Evidence from glycine transfer RNA of a frozen accident at the dawn of the genetic code

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    Tate Warren P

    2008-12-01

    Full Text Available Abstract Background Transfer RNA (tRNA is the means by which the cell translates DNA sequence into protein according to the rules of the genetic code. A credible proposition is that tRNA was formed from the duplication of an RNA hairpin half the length of the contemporary tRNA molecule, with the point at which the hairpins were joined marked by the canonical intron insertion position found today within tRNA genes. If these hairpins possessed a 3'-CCA terminus with different combinations of stem nucleotides (the ancestral operational RNA code, specific aminoacylation and perhaps participation in some form of noncoded protein synthesis might have occurred. However, the identity of the first tRNA and the initial steps in the origin of the genetic code remain elusive. Results Here we show evidence that glycine tRNA was the first tRNA, as revealed by a vestigial imprint in the anticodon loop sequences of contemporary descendents. This provides a plausible mechanism for the missing first step in the origin of the genetic code. In 448 of 466 glycine tRNA gene sequences from bacteria, archaea and eukaryote cytoplasm analyzed, CCA occurs immediately upstream of the canonical intron insertion position, suggesting the first anticodon (NCC for glycine has been captured from the 3'-terminal CCA of one of the interacting hairpins as a result of an ancestral ligation. Conclusion That this imprint (including the second and third nucleotides of the glycine tRNA anticodon has been retained through billions of years of evolution suggests Crick's 'frozen accident' hypothesis has validity for at least this very first step at the dawn of the genetic code. Reviewers This article was reviewed by Dr Eugene V. Koonin, Dr Rob Knight and Dr David H Ardell.

  13. Genetic Diversity on the Human X Chromosome Does Not Support a Strict Pseudoautosomal Boundary.

    Science.gov (United States)

    Cotter, Daniel J; Brotman, Sarah M; Wilson Sayres, Melissa A

    2016-05-01

    Unlike the autosomes, recombination between the X chromosome and the Y chromosome is often thought to be constrained to two small pseudoautosomal regions (PARs) at the tips of each sex chromosome. PAR1 spans the first 2.7 Mb of the proximal arm of the human sex chromosomes, whereas the much smaller PAR2 encompasses the distal 320 kb of the long arm of each sex chromosome. In addition to PAR1 and PAR2, there is a human-specific X-transposed region that was duplicated from the X to the Y chromosome. The X-transposed region is often not excluded from X-specific analyses, unlike the PARs, because it is not thought to routinely recombine. Genetic diversity is expected to be higher in recombining regions than in nonrecombining regions because recombination reduces the effect of linked selection. In this study, we investigated patterns of genetic diversity in noncoding regions across the entire X chromosome of a global sample of 26 unrelated genetic females. We found that genetic diversity in PAR1 is significantly greater than in the nonrecombining regions (nonPARs). However, rather than an abrupt drop in diversity at the pseudoautosomal boundary, there is a gradual reduction in diversity from the recombining through the nonrecombining regions, suggesting that recombination between the human sex chromosomes spans across the currently defined pseudoautosomal boundary. A consequence of recombination spanning this boundary potentially includes increasing the rate of sex-linked disorders (e.g., de la Chapelle) and sex chromosome aneuploidies. In contrast, diversity in PAR2 is not significantly elevated compared to the nonPARs, suggesting that recombination is not obligatory in PAR2. Finally, diversity in the X-transposed region is higher than in the surrounding nonPARs, providing evidence that recombination may occur with some frequency between the X and Y chromosomes in the X-transposed region.

  14. Multiple Lines Of Evidence Supporting Natural Attenuation: Lines Of Inquiry Supporting Monitored Natural Attenuation And Enhanced Attenuatin Of Chlorinated Solvents

    Energy Technology Data Exchange (ETDEWEB)

    Vangelas, Karen; Widemeirer, T. H.; Barden, M.J.; Dickson, W. Z.; Major, David

    2004-12-31

    The Department of Energy (DOE) is sponsoring an initiative to facilitate efficient, effective and responsible use of Monitored Natural Attenuation (MNA) and Enhanced Attenuation (EA) for chlorinated solvents. This Office of Environmental Management (EM) ''Alternative Project,'' focuses on providing scientific and policy support for MNA/EA. A broadly representative working group of scientists supports the project along with partnerships with regulatory organizations such as the Interstate Technology Regulatory Council (ITRC) and the United States Environmental Protection Agency (USEPA). The initial product of the technical working group was a summary report that articulated the conceptual approach and central scientific tenants of the project, and that identified a prioritized listing of technical targets for field research. This report documented the process in which: (1) scientific ground rules were developed, (2) lines of inquiry were identified and then critically evaluated, (3) promising applied research topics were highlighted in the various lines of inquiry, and (4) these were discussed and prioritized. The summary report will serve as a resource to guide management and decision making throughout the period of the subject MNA/EA Alternative Project. To support and more fully document the information presented in the summary report, the DOE is publishing a series of supplemental documents that present the full texts from the technical analyses within the various lines of inquiry (see listing). The following report--documenting our evaluation of the state of the science for the lines of evidence for supporting decision-making for MNA--is one of those supplemental documents.

  15. Evidence for multiple genetic forms with similar eyeless phenotypes in the blind cavefish, Astyanax mexicanus.

    Science.gov (United States)

    Dowling, Thomas E; Martasian, David P; Jeffery, William R

    2002-04-01

    A diverse group of animals has adapted to caves and lost their eyes and pigmentation, but little is known about how these animals and their striking phenotypes have evolved. The teleost Astyanax mexicanus consists of an eyed epigean form (surface fish) and at least 29 different populations of eyeless hypogean forms (cavefish). Current alternative hypotheses suggest that adaptation to cave environments may have occurred either once or multiple times during the evolutionary history of this species. If the latter is true, the unique phenotypes of different cave-dwelling populations may result from convergence of form, and different genetic changes and developmental processes may have similar morphological consequences. Here we report an analysis of variation in the mitochondrial NADH dehydrogenase 2 (ND2) gene among different surface fish and cavefish populations. The results identify a minimum of two genetically distinctive cavefish lineages with similar eyeless phenotypes. The distinction between these divergent forms is supported by differences in the number of rib-bearing thoracic vertebrae in their axial skeletons. The geographic distribution of ND2 haplotypes is consistent with roles for multiple founder events and introgressive hybridization in the evolution of cave-related phenotypes. The existence of multiple genetic lineages makes A. mexicanus an excellent model to study convergence and the genes and developmental pathways involved in the evolution of the eye and pigment degeneration.

  16. Genetic change in the polynesian population of Easter Island: evidence from Alu insertion polymorphisms.

    Science.gov (United States)

    González-Pérez, E; Esteban, E; Via, M; García-Moro, C; Hernández, M; Moral, P

    2006-11-01

    The origin of Pacific islanders is still an open issue in human population genetics. To address this topic we analyzed a set of 18 Alu insertion polymorphisms in a total of 176 chromosomes from native Easter Island inhabitants (Rapanui). Available genealogical records allowed us to subdivide the total island sample into two groups, representative of the native population living in the island around 1900, and another formed by individuals with some ancestors of non-Rapanui origin. Significant genetic differentiation was found between these groups, allowing us to make some biodemographic and historical inferences about the origin and evolution of this geographically isolated island population. Our data are consistent with equivalent and recent contributions from Amerindian and European migrants to the 1900s Rapanui population, with an accelerated increase in the European gene flow during the 20(th) century, especially since the 1960s. Comparative analysis of our results with other available Alu variation data on neighbouring populations supports the "Voyaging Corridor" model of Polynesian human settlement, which indicates that pre-Polynesians are mainly derived from Southeast Asian and Wallacean populations rather than from Taiwan or the Philippines. This study underlines the importance of sampling and taking into account historical information in genetic studies to unravel the recent evolution of human populations.

  17. Genetic differential susceptibility on trial: meta-analytic support from randomized controlled experiments.

    Science.gov (United States)

    van Ijzendoorn, Marinus H; Bakermans-Kranenburg, Marian J

    2015-02-01

    The most stringent test of differential susceptibility theory is provided by randomized control trials examining the moderating role of genetic markers of differential susceptibility in experimental manipulations of the environment (Gene × Experimental Environment interactions), being at least 10 times more powerful than correlational Gene × Environment interaction studies. We identified 22 experiments involving 3,257 participants with various developmental outcomes (e.g., externalizing problems, internalizing behaviors, and cognitive development). Effect sizes contrasting experimental versus control group were computed both for subjects with the polymorphism considered indicative of heightened susceptibility (e.g., the dopamine receptor D4 gene seven-repeat allele and the serotonin transporter polymorphic region short allele) and others expected to be low in susceptibility (e.g., the dopamine receptor D4 gene four-repeat allele and the serotonin transporter polymorphic region short allele). Clear-cut experimental support for genetic differential susceptibility emerged: the combined effect size of the interventions for the susceptible genotypes amounted to r = .33 (95% confidence interval = 0.23, 0.42; p differential susceptibility than microtrials, and differential susceptibility was more clearly observed in trials with externalizing and cognitive outcomes than with internalizing problems. This meta-analysis shows proof of principle for genetic differential susceptibility and indicates that it is time to explore its mechanisms and limits. The concept of differential susceptibility alters the idea of constitutional "risk" factors (reactive temperament and risk genotypes), and points to intervention efficacy hidden in Gene × Environment interactions.

  18. Enhanced genetic analysis of single human bioparticles recovered by simplified micromanipulation from forensic 'touch DNA' evidence.

    Science.gov (United States)

    Farash, Katherine; Hanson, Erin K; Ballantyne, Jack

    2015-03-09

    DNA profiles can be obtained from 'touch DNA' evidence, which comprises microscopic traces of human biological material. Current methods for the recovery of trace DNA employ cotton swabs or adhesive tape to sample an area of interest. However, such a 'blind-swabbing' approach will co-sample cellular material from the different individuals, even if the individuals' cells are located in geographically distinct locations on the item. Thus, some of the DNA mixtures encountered in touch DNA samples are artificially created by the swabbing itself. In some instances, a victim's DNA may be found in significant excess thus masking any potential perpetrator's DNA. In order to circumvent the challenges with standard recovery and analysis methods, we have developed a lower cost, 'smart analysis' method that results in enhanced genetic analysis of touch DNA evidence. We describe an optimized and efficient micromanipulation recovery strategy for the collection of bio-particles present in touch DNA samples, as well as an enhanced amplification strategy involving a one-step 5 µl microvolume lysis/STR amplification to permit the recovery of STR profiles from the bio-particle donor(s). The use of individual or few (i.e., "clumps") bioparticles results in the ability to obtain single source profiles. These procedures represent alternative enhanced techniques for the isolation and analysis of single bioparticles from forensic touch DNA evidence. While not necessary in every forensic investigation, the method could be highly beneficial for the recovery of a single source perpetrator DNA profile in cases involving physical assault (e.g., strangulation) that may not be possible using standard analysis techniques. Additionally, the strategies developed here offer an opportunity to obtain genetic information at the single cell level from a variety of other non-forensic trace biological material.

  19. Evidence for an invasive aphid "superclone": extremely low genetic diversity in Oleander aphid (Aphis nerii populations in the southern United States.

    Directory of Open Access Journals (Sweden)

    John Scott Harrison

    Full Text Available BACKGROUND: The importance of genetic diversity in successful biological invasions is unclear. In animals, but not necessarily plants, increased genetic diversity is generally associated with successful colonization and establishment of novel habitats. The Oleander aphid, Aphis nerii, though native to the Mediterranean region, is an invasive pest species throughout much of the world. Feeding primarily on Oleander (Nerium oleander and Milkweed (Asclepias spp. under natural conditions, these plants are unlikely to support aphid populations year round in the southern US. The objective of this study was to describe the genetic variation within and among US populations of A. nerii, during extinction/recolonization events, to better understand the population ecology of this invasive species. METHODOLOGY/PRINCIPAL FINDINGS: We used five microsatellite markers to assess genetic diversity over a two year period within and among three aphid populations separated by small (100 km and large (3,700 km geographic distances on two host plant species. Here we provide evidence for A. nerii "superclones". Genotypic variation was absent in all populations (i.e., each population consisted of a single multilocus genotype (MLG or "clone" and the genetic composition of only one population completely changed across years. There was no evidence of sexual reproduction or host races on different plant species. CONCLUSIONS/SIGNIFICANCE: Aphis nerii is a well established invasive species despite having extremely low genetic diversity. As this aphid appears to be obligatorily asexual, it may share more similarities with clonally reproducing invasive plants, than with other animals. Patterns of temporal and geographic genetic variation, viewed in the context of its population dynamics, have important implications for the management of invasive pests and the evolutionary biology of asexual species.

  20. Palenque de San Basilio in Colombia: genetic data support an oral history of a paternal ancestry in Congo.

    Science.gov (United States)

    Ansari-Pour, Naser; Moñino, Yves; Duque, Constanza; Gallego, Natalia; Bedoya, Gabriel; Thomas, Mark G; Bradman, Neil

    2016-03-30

    The Palenque, a black community in rural Colombia, have an oral history of fugitive African slaves founding a free village near Cartagena in the seventeenth century. Recently, linguists have identified some 200 words in regular use that originate in a Kikongo language, with Yombe, mainly spoken in the Congo region, being the most likely source. The non-recombining portion of the Y chromosome (NRY) and mitochondrial DNA were analysed to establish whether there was greater similarity between present-day members of the Palenque and Yombe than between the Palenque and 42 other African groups (for all individuals,n= 2799) from which forced slaves might have been taken. NRY data are consistent with the linguistic evidence that Yombe is the most likely group from which the original male settlers of Palenque came. Mitochondrial DNA data suggested substantial maternal sub-Saharan African ancestry and a strong founder effect but did not associate Palenque with any particular African group. In addition, based on cultural data including inhabitants' claims of linguistic differences, it has been hypothesized that the two districts of the village (Abajo and Arriba) have different origins, with Arriba founded by men originating in Congo and Abajo by those born in Colombia. Although significant genetic structuring distinguished the two from each other, no supporting evidence for this hypothesis was found. © 2016 The Author(s).

  1. Genetic evidence for a worldwide chaotic dispersion pattern of the arbovirus vector, Aedes albopictus

    Science.gov (United States)

    Manni, Mosè; Guglielmino, Carmela R.; Scolari, Francesca; Vega-Rúa, Anubis; Failloux, Anna-Bella; Somboon, Pradya; Lisa, Antonella; Savini, Grazia; Bonizzoni, Mariangela; Gomulski, Ludvik M.; Malacrida, Anna R.

    2017-01-01

    Background Invasive species represent a global concern for their rapid spread and the possibility of infectious disease transmission. This is the case of the global invader Aedes albopictus, the Asian tiger mosquito. This species is a vector of medically important arboviruses, notably chikungunya (CHIKV), dengue (DENV) and Zika (ZIKV). The reconstruction of the complex colonization pattern of this mosquito has great potential for mitigating its spread and, consequently, disease risks. Methodology/Principal findings Classical population genetics analyses and Approximate Bayesian Computation (ABC) approaches were combined to disentangle the demographic history of Aedes albopictus populations from representative countries in the Southeast Asian native range and in the recent and more recently colonized areas. In Southeast Asia, the low differentiation and the high co-ancestry values identified among China, Thailand and Japan indicate that, in the native range, these populations maintain high genetic connectivity, revealing their ancestral common origin. China appears to be the oldest population. Outside Southeast Asia, the invasion process in La Réunion, America and the Mediterranean Basin is primarily supported by a chaotic propagule distribution, which cooperates in maintaining a relatively high genetic diversity within the adventive populations. Conclusions/Significance From our data, it appears that independent and also trans-continental introductions of Ae. albopictus may have facilitated the rapid establishment of adventive populations through admixture of unrelated genomes. As a consequence, a great amount of intra-population variability has been detected, and it is likely that this variability may extend to the genetic mechanisms controlling vector competence. Thus, in the context of the invasion process of this mosquito, it is possible that both population ancestry and admixture contribute to create the conditions for the efficient transmission of

  2. Low genetic variation and evidence of limited dispersal in the regionally important Belize manatee

    Science.gov (United States)

    Hunter, M.E.; Auil-Gomez, N. E.; Tucker, K.P.; Bonde, R.K.; Powell, J.; McGuire, P.M.

    2010-01-01

    The Antillean subspecies of the West Indian manatee Trichechus manatus is found throughout Central and South America and the Caribbean. Because of severe hunting pressure during the 17th through 19th centuries, only small populations of the once widespread aquatic mammal remain. Fortunately, protections in Belize reduced hunting in the 1930s and allowed the country's manatee population to become the largest breeding population in the Wider Caribbean. However, increasing and emerging anthropogenic threats such as coastal development, pollution, watercraft collision and net entanglement represent challenges to this ecologically important population. To inform conservation and management decisions, a comprehensive molecular investigation of the genetic diversity, relatedness and population structure of the Belize manatee population was conducted using mitochondrial and microsatellite DNA. Compared with other mammal populations, a low degree of genetic diversity was detected (HE=0.455; NA=3.4), corresponding to the small population size and long-term exploitation. Manatees from the Belize City Cayes and Southern Lagoon system were genetically different, with microsatellite and mitochondrial FST values of 0.029 and 0.078, respectively (P≤0.05). This, along with the distinct habitats and threats, indicates that separate protection of these two groups would best preserve the region's diversity. The Belize population and Florida subspecies appear to be unrelated with microsatellite and mitochondrial FST values of 0.141 and 0.63, respectively (P≤0.001), supporting the subspecies designations and suggesting low vagility throughout the northern Caribbean habitat. Further monitoring and protection may allow an increase in the Belize manatee genetic diversity and population size. A large and expanding Belize population could potentially assist in the recovery of other threatened or functionally extinct Central American Antillean manatee populations.

  3. SNPs selection using support vector regression and genetic algorithms in GWAS.

    Science.gov (United States)

    de Oliveira, Fabrízzio Condé; Borges, Carlos Cristiano Hasenclever; Almeida, Fernanda Nascimento; e Silva, Fabyano Fonseca; da Silva Verneque, Rui; da Silva, Marcos Vinicius G B; Arbex, Wagner

    2014-01-01

    This paper proposes a new methodology to simultaneously select the most relevant SNPs markers for the characterization of any measurable phenotype described by a continuous variable using Support Vector Regression with Pearson Universal kernel as fitness function of a binary genetic algorithm. The proposed methodology is multi-attribute towards considering several markers simultaneously to explain the phenotype and is based jointly on statistical tools, machine learning and computational intelligence. The suggested method has shown potential in the simulated database 1, with additive effects only, and real database. In this simulated database, with a total of 1,000 markers, and 7 with major effect on the phenotype and the other 993 SNPs representing the noise, the method identified 21 markers. Of this total, 5 are relevant SNPs between the 7 but 16 are false positives. In real database, initially with 50,752 SNPs, we have reduced to 3,073 markers, increasing the accuracy of the model. In the simulated database 2, with additive effects and interactions (epistasis), the proposed method matched to the methodology most commonly used in GWAS. The method suggested in this paper demonstrates the effectiveness in explaining the real phenotype (PTA for milk), because with the application of the wrapper based on genetic algorithm and Support Vector Regression with Pearson Universal, many redundant markers were eliminated, increasing the prediction and accuracy of the model on the real database without quality control filters. The PUK demonstrated that it can replicate the performance of linear and RBF kernels.

  4. Optimization of Support Structures for Offshore Wind Turbines Using Genetic Algorithm with Domain-Trimming

    Directory of Open Access Journals (Sweden)

    Mohammad AlHamaydeh

    2017-01-01

    Full Text Available The powerful genetic algorithm optimization technique is augmented with an innovative “domain-trimming” modification. The resulting adaptive, high-performance technique is called Genetic Algorithm with Domain-Trimming (GADT. As a proof of concept, the GADT is applied to a widely used benchmark problem. The 10-dimensional truss optimization benchmark problem has well documented global and local minima. The GADT is shown to outperform several published solutions. Subsequently, the GADT is deployed onto three-dimensional structural design optimization for offshore wind turbine supporting structures. The design problem involves complex least-weight topology as well as member size optimizations. The GADT is applied to two popular design alternatives: tripod and quadropod jackets. The two versions of the optimization problem are nonlinearly constrained where the objective function is the material weight of the supporting truss. The considered design variables are the truss members end node coordinates, as well as the cross-sectional areas of the truss members, whereas the constraints are the maximum stresses in members and the maximum displacements of the nodes. These constraints are managed via dynamically modified, nonstationary penalty functions. The structures are subject to gravity, wind, wave, and earthquake loading conditions. The results show that the GADT method is superior in finding best discovered optimal solutions.

  5. Constraints to genetic exchange support gene coadaptation in a tripartite RNA virus.

    Directory of Open Access Journals (Sweden)

    Fernando Escriu

    2007-01-01

    Full Text Available Genetic exchange by recombination, or reassortment of genomic segments, has been shown to be an important process in RNA virus evolution, resulting often in important phenotypic changes affecting host range and virulence. However, data from numerous systems indicate that reassortant or recombinant genotypes could be selected against in virus populations and suggest that there is coadaptation among viral genes. Little is known about the factors affecting the frequency of reassortants and recombinants along the virus life cycle. We have explored this issue by estimating the frequency of reassortant and recombinant genotypes in experimental populations of Cucumber mosaic virus derived from mixed infections with four different pairs of isolates that differed in about 12% of their nucleotide sequence. Genetic composition of progeny populations were analyzed at various steps of the virus life cycle during host colonization: infection of leaf cells, cell-to-cell movement within the inoculated leaf, encapsidation of progeny genomes, and systemic movement to upper noninoculated leaves. Results indicated that reassortant frequencies do not correspond to random expectations and that selection operates against reassortant genotypes. The intensity of selection, estimated through the use of log-linear models, increased as host colonization progressed. No recombinant was detected in any progeny. Hence, results showed the existence of constraints to genetic exchange linked to various steps of the virus life cycle, so that genotypes with heterologous gene combinations were less fit and disappeared from the population. These results contribute to explain the low frequency of recombinants and reassortants in natural populations of many viruses, in spite of high rates of genetic exchange. More generally, the present work supports the hypothesis of coadaptation of gene complexes within the viral genomes.

  6. Getting the right information to the table: using technology to support evidence-based decision making.

    Science.gov (United States)

    Atack, Lynda; Gignac, Patrick; Anderson, Malcolm

    2010-01-01

    Healthcare executives report that it is difficult to access the research literature and once found, it is frequently not relevant. A study was conducted to explore ways in which healthcare executives, enrolled in the EXTRA program, used a virtual desktop environment. Despite some design and function limitations, the desktop was perceived positively by most participants and was effective in supporting evidence-informed practice and decision making.

  7. The information infrastructure that supports evidence-based veterinary medicine: a comparison with human medicine.

    Science.gov (United States)

    Toews, Lorraine

    2011-01-01

    In human medicine, the information infrastructure that supports the knowledge translation processes of exchange, synthesis, dissemination, and application of the best clinical intervention research has developed significantly in the past 15 years, facilitating the uptake of research evidence by clinicians as well as the practice of evidence-based medicine. Seven of the key elements of this improved information infrastructure are clinical trial registries, research reporting standards, systematic reviews, organizations that support the production of systematic reviews, the indexing of clinical intervention research in MEDLINE, clinical search filters for MEDLINE, and point-of-care decision support information resources. The objective of this paper is to describe why these elements are important for evidence-based medicine, the key developments and issues related to these seven information infrastructure elements in human medicine, how these 7 elements compare with the corresponding infrastructure elements in veterinary medicine, and how all of these factors affect the translation of clinical intervention research into clinical practice. A focused search of the Ovid MEDLINE database was conducted for English language journal literature published between 2000 and 2010. Two bibliographies were consulted and selected national and international Web sites were searched using Google. The literature reviewed indicates that the information infrastructure supporting evidence-based veterinary medicine practice in all of the 7 elements reviewed is significantly underdeveloped in relation to the corresponding information infrastructure in human medicine. This lack of development creates barriers to the timely translation of veterinary medicine research into clinical practice and also to the conduct of both primary clinical intervention research and synthesis research.

  8. PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.

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    Soto Romuald Kiando

    2016-10-01

    Full Text Available Fibromuscular dysplasia (FMD is a nonatherosclerotic vascular disease leading to stenosis, dissection and aneurysm affecting mainly the renal and cerebrovascular arteries. FMD is often an underdiagnosed cause of hypertension and stroke, has higher prevalence in females (~80% but its pathophysiology is unclear. We analyzed ~26K common variants (MAF>0.05 generated by exome-chip arrays in 249 FMD patients and 689 controls. We replicated 13 loci (P<10-4 in 402 cases and 2,537 controls and confirmed an association between FMD and a variant in the phosphatase and actin regulator 1 gene (PHACTR1. Three additional case control cohorts including 512 cases and 669 replicated this result and overall reached the genomic level of significance (OR = 1.39, P = 7.4×10-10, 1,154 cases and 3,895 controls. The top variant, rs9349379, is intronic to PHACTR1, a risk locus for coronary artery disease, migraine, and cervical artery dissection. The analyses of geometrical parameters of carotids from ~2,500 healthy volunteers indicate higher intima media thickness (P = 1.97×10-4 and wall to lumen ratio (P = 0.002 in rs9349379-A carriers, suggesting indices of carotid hypertrophy previously described in carotids of FMD patients. Immunohistochemistry detected PHACTR1 in endothelium and smooth muscle cells of FMD and normal human carotids. The expression of PHACTR1 by genotypes in primary human fibroblasts showed higher expression in rs9349379-A carriers (N = 86, P = 0.003. Phactr1 knockdown in zebrafish resulted in dilated vessels indicating subtle impaired vascular development. We report the first susceptibility locus for FMD and provide evidence for a complex genetic pattern of inheritance and indices of shared pathophysiology between FMD and other cardiovascular and neurovascular diseases.

  9. Linking restless legs syndrome with Parkinson's disease: clinical, imaging and genetic evidence

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    Peeraully Tasneem

    2012-02-01

    Full Text Available Abstract Restless legs syndrome (RLS and Parkinson's disease (PD are both common neurological disorders. There has been much debate over whether an etiological link between these two diseases exists and whether they share a common pathophysiology. Evidence pointing towards a link includes response to dopaminergic agents in PD and RLS, suggestive of underlying dopamine dysfunction in both conditions. The extrastriatal dopaminergic system, in particular altered spinal dopaminergic modulation, may be variably involved in PD patients with RLS symptoms. In addition, there is now evidence that the nigrostriatal system, primarily involved in PD, is also affected in RLS. Furthermore, an association of RLS with the parkin mutation has been suggested. The prevalence of RLS has also been reported to be increased in other disorders of dopamine regulation. However, clinical association studies and functional imaging have produced mixed findings. Conflicting accounts of emergence of RLS and improvement in RLS symptoms after deep brain stimulation (DBS also contribute to the uncertainty surrounding the issue. Among the strongest arguments against a common pathophysiology is the role of iron in RLS and PD. While elevated iron levels in the substantia nigra contribute to oxidative stress in PD, RLS is a disorder of relative iron deficiency, with symptoms responding to replacement therapy. Recent ultrasonography studies have suggested that, despite overlapping clinical features, the mechanisms underlying idiopathic RLS and RLS associated with PD may differ. In this review, we provide a concise summary of the clinical, imaging and genetic evidence exploring the link between RLS and PD.

  10. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.

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    Goldgar, David E; Easton, Douglas F; Byrnes, Graham B; Spurdle, Amanda B; Iversen, Edwin S; Greenblatt, Marc S

    2008-11-01

    Genetic testing often results in the finding of a variant whose clinical significance is unknown. A number of different approaches have been employed in the attempt to classify such variants. For some variants, case-control, segregation, family history, or other statistical studies can provide strong evidence of direct association with cancer risk. For most variants, other evidence is available that relates to properties of the protein or gene sequence. In this work we propose a Bayesian method for assessing the likelihood that a variant is pathogenic. We discuss the assessment of prior probability, and how to combine the various sources of data into a statistically valid integrated assessment with a posterior probability of pathogenicity. In particular, we propose the use of a two-component mixture model to integrate these various sources of data and to estimate the parameters related to sensitivity and specificity of specific kinds of evidence. Further, we discuss some of the issues involved in this process and the assumptions that underpin many of the methods used in the evaluation process.

  11. Additional Interventions to Enhance the Effectiveness of Individual Placement and Support: A Rapid Evidence Assessment

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    Naomi Boycott

    2012-01-01

    Full Text Available Topic. Additional interventions used to enhance the effectiveness of individual placement and support (IPS. Aim. To establish whether additional interventions improve the vocational outcomes of IPS alone for people with severe mental illness. Method. A rapid evidence assessment of the literature was conducted for studies where behavioural or psychological interventions have been used to supplement standard IPS. Published and unpublished empirical studies of IPS with additional interventions were considered for inclusion. Conclusions. Six published studies were found which compared IPS alone to IPS plus a supplementary intervention. Of these, three used skills training and three used cognitive remediation. The contribution of each discrete intervention is difficult to establish. Some evidence suggests that work-related social skills and cognitive training are effective adjuncts, but this is an area where large RCTs are required to yield conclusive evidence.

  12. 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 ...

  13. Young infants view physically possible support events as unexpected: New evidence for rule learning.

    Science.gov (United States)

    Wang, Su-Hua; Zhang, Yu; Baillargeon, Renée

    2016-12-01

    It has been suggested that one of the mechanisms by which infants acquire their physical knowledge is rule learning: Infants generate rules about the likely outcomes of events and revise these rules when confronted with discrepant outcomes. This approach predicts that when infants' rules are only partially correct, they will view as unexpected events that are physically possible and even ordinary but happen to contradict their faulty rules. Here we provide evidence for this prediction in young infants' responses to support events. According to prior findings, by 6.5months of age, most infants expect an object to be stable if released with half or more of its bottom surface on a support; by 8months, most infants have refined this rule and realize that an object can be stable with less support as long as the middle of the object's bottom surface is supported. In line with these findings, 7.5- but not 8.5-month-olds viewed as unexpected a possible event in which a wide box remained stable when released with only the middle third of its bottom surface resting on a narrow platform. These results provide new evidence that young infants, like older children and adults, generate and revise rules to make sense of physical events. Copyright © 2016 Elsevier B.V. All rights reserved.

  14. Genetic Effects on Sensorineural Hearing Loss and Evidence-based Treatment for Sensorineural Hearing Loss

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    Yong-qiang Yu; Huai-an Yang; Ming Xiao; Jing-wei Wang; Dong-yan Huang; Yagesh Bhambhani; Lyn Sonnenberg

    2015-01-01

    In this article, the mechanism of inheritance behind inherited hearing loss and genetic susceptibility in noise-induced hearing loss are reviewed. Conventional treatments for sensorineural hearing loss (SNHL), i.e. hearing aid and cochlear implant, are effective for some cases, but not without limitations. For example, they provide little benefit for patients of profound SNHL or neural hearing loss, especially when the hearing loss is in poor dynamic range and with low frequency resolution. We emphasize the most recent evidence-based treatment in this field, which includes gene therapy and allotransplantation of stem cells. Their promising results have shown that they might be options of treatment for profound SNHL and neural hearing loss. Although some treatments are still at the experimental stage, it is helpful to be aware of the novel therapies and endeavour to explore the feasibility of their clinical application.

  15. Genetic evidence of hantavirus infections in wild rodents from northwestern Colombia.

    Science.gov (United States)

    Londoño, Andres F; Díaz, Francisco J; Agudelo-Flórez, Piedad; Levis, Silvana; Rodas, Juan D

    2011-06-01

    This report builds on recent serological evidence for the presence of hantavirus in northern Colombia by providing sequence-specific and phylogenetic data of hantavirus infections in wild rodents. From August 2007 to August 2008, 354 rodent specimens representing four families were collected in the northwestern Antioquia region of Colombia. Antibodies reactive to Sin Nombre virus and Maciel virus antigens by IgG enzyme-linked immunosorbent assay were found in 15 of 109 (14%) Cherries cane rats (Zygodontomys cherriei), the only sigmodontinae rodents captured. Lung tissue samples from 11 of the 15 seropositive rodents were RT-polymerase chain reaction positive for hantavirus RNA, using primers for the S and M genome segments. Eight of these amplicons were sequenced and phylogenetic analyses indicated RNA of a hantavirus closely related to Calabazo virus, previously found in Panama. This is the first report of the genetic characterization of a hantavirus in rodents in Colombia.

  16. Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder.

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    Yiqin Wang

    2016-10-01

    Full Text Available Increasing clinical and biochemical evidence implicate mitochondrial dysfunction in the pathophysiology of Autism Spectrum Disorder (ASD, but little is known about the biological basis for this connection. A possible cause of ASD is the genetic variation in the mitochondrial DNA (mtDNA sequence, which has yet to be thoroughly investigated in large genomic studies of ASD. Here we evaluated mtDNA variation, including the mixture of different mtDNA molecules in the same individual (i.e., heteroplasmy, using whole-exome sequencing data from mother-proband-sibling trios from simplex families (n = 903 where only one child is affected by ASD. We found that heteroplasmic mutations in autistic probands were enriched at non-polymorphic mtDNA sites (P = 0.0015, which were more likely to confer deleterious effects than heteroplasmies at polymorphic mtDNA sites. Accordingly, we observed a ~1.5-fold enrichment of nonsynonymous mutations (P = 0.0028 as well as a ~2.2-fold enrichment of predicted pathogenic mutations (P = 0.0016 in autistic probands compared to their non-autistic siblings. Both nonsynonymous and predicted pathogenic mutations private to probands conferred increased risk of ASD (Odds Ratio, OR[95% CI] = 1.87[1.14-3.11] and 2.55[1.26-5.51], respectively, and their influence on ASD was most pronounced in families with probands showing diminished IQ and/or impaired social behavior compared to their non-autistic siblings. We also showed that the genetic transmission pattern of mtDNA heteroplasmies with high pathogenic potential differed between mother-autistic proband pairs and mother-sibling pairs, implicating developmental and possibly in utero contributions. Taken together, our genetic findings substantiate pathogenic mtDNA mutations as a potential cause for ASD and synergize with recent work calling attention to their unique metabolic phenotypes for diagnosis and treatment of children with ASD.

  17. Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder

    Science.gov (United States)

    Wang, Yiqin; Picard, Martin; Gu, Zhenglong

    2016-01-01

    Increasing clinical and biochemical evidence implicate mitochondrial dysfunction in the pathophysiology of Autism Spectrum Disorder (ASD), but little is known about the biological basis for this connection. A possible cause of ASD is the genetic variation in the mitochondrial DNA (mtDNA) sequence, which has yet to be thoroughly investigated in large genomic studies of ASD. Here we evaluated mtDNA variation, including the mixture of different mtDNA molecules in the same individual (i.e., heteroplasmy), using whole-exome sequencing data from mother-proband-sibling trios from simplex families (n = 903) where only one child is affected by ASD. We found that heteroplasmic mutations in autistic probands were enriched at non-polymorphic mtDNA sites (P = 0.0015), which were more likely to confer deleterious effects than heteroplasmies at polymorphic mtDNA sites. Accordingly, we observed a ~1.5-fold enrichment of nonsynonymous mutations (P = 0.0028) as well as a ~2.2-fold enrichment of predicted pathogenic mutations (P = 0.0016) in autistic probands compared to their non-autistic siblings. Both nonsynonymous and predicted pathogenic mutations private to probands conferred increased risk of ASD (Odds Ratio, OR[95% CI] = 1.87[1.14–3.11] and 2.55[1.26–5.51], respectively), and their influence on ASD was most pronounced in families with probands showing diminished IQ and/or impaired social behavior compared to their non-autistic siblings. We also showed that the genetic transmission pattern of mtDNA heteroplasmies with high pathogenic potential differed between mother-autistic proband pairs and mother-sibling pairs, implicating developmental and possibly in utero contributions. Taken together, our genetic findings substantiate pathogenic mtDNA mutations as a potential cause for ASD and synergize with recent work calling attention to their unique metabolic phenotypes for diagnosis and treatment of children with ASD. PMID:27792786

  18. A genome scan conducted in a multigenerational pedigree with convergent strabismus supports a complex genetic determinism.

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    Anouk Georges

    Full Text Available A genome-wide linkage scan was conducted in a Northern-European multigenerational pedigree with nine of 40 related members affected with concomitant strabismus. Twenty-seven members of the pedigree including all affected individuals were genotyped using a SNP array interrogating > 300,000 common SNPs. We conducted parametric and non-parametric linkage analyses assuming segregation of an autosomal dominant mutation, yet allowing for incomplete penetrance and phenocopies. We detected two chromosome regions with near-suggestive evidence for linkage, respectively on chromosomes 8 and 18. The chromosome 8 linkage implied a penetrance of 0.80 and a rate of phenocopy of 0.11, while the chromosome 18 linkage implied a penetrance of 0.64 and a rate of phenocopy of 0. Our analysis excludes a simple genetic determinism of strabismus in this pedigree.

  19. A genome scan conducted in a multigenerational pedigree with convergent strabismus supports a complex genetic determinism.

    Science.gov (United States)

    Georges, Anouk; Cambisano, Nadine; Ahariz, Naïma; Karim, Latifa; Georges, Michel

    2013-01-01

    A genome-wide linkage scan was conducted in a Northern-European multigenerational pedigree with nine of 40 related members affected with concomitant strabismus. Twenty-seven members of the pedigree including all affected individuals were genotyped using a SNP array interrogating > 300,000 common SNPs. We conducted parametric and non-parametric linkage analyses assuming segregation of an autosomal dominant mutation, yet allowing for incomplete penetrance and phenocopies. We detected two chromosome regions with near-suggestive evidence for linkage, respectively on chromosomes 8 and 18. The chromosome 8 linkage implied a penetrance of 0.80 and a rate of phenocopy of 0.11, while the chromosome 18 linkage implied a penetrance of 0.64 and a rate of phenocopy of 0. Our analysis excludes a simple genetic determinism of strabismus in this pedigree.

  20. Genetic evidence for the presence of two species of Onchocerca from the wild boar in Japan

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    Fukuda M.

    2010-03-01

    Full Text Available In order to clarify the genetic differences between Onchocerca dewittei japonica, the causative agent of zoonotic onchocerciasis in Japan and a related undescribed Onchocerca sp., both parasitizing wild boar (Sus scrofa of which the infective larval stages are indistinguishable from each other, we compared the sequences of the mitochondrial cytochrome c oxidase subunit 1 (CO1 gene region from four infective larvae (recovered from experimentally infected black flies, one microfilaria, and one adult of O. dewittei japonica, and from one infective larva (recovered from an experimentally infected black fly, one microfilaria, and a pool of several microfilariae of O. sp. The length of the CO1 gene region was 649 bp for all samples but there was a difference of 8.8 to 9.4% in the sequences between the two species although there were intraspecific variations of 0 to 0.5%. The CO1 sequences of O. sp. did not correspond to any of those deposited in the databases. Our study provides evidence that O. dewittei japonica and O. sp. are genetically different from each other.

  1. Molecular genetic evidence for the place of origin of the Pacific rat, Rattus exulans.

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    Vicki Thomson

    Full Text Available Commensal plants and animals have long been used to track human migrations, with Rattus exulans (the Pacific rat a common organism for reconstructing Polynesian dispersal in the Pacific. However, with no knowledge of the homeland of R. exulans, the place of origin of this human-commensal relationship is unknown. We conducted a mitochondrial DNA phylogeographic survey of R. exulans diversity across the potential natural range in mainland and Island Southeast Asia in order to establish the origin of this human-commensal dyad. We also conducted allozyme electrophoresis on samples from ISEA to obtain a perspective on patterns of genetic diversity in this critical region. Finally, we compared molecular genetic evidence with knowledge of prehistoric rodent faunas in mainland and ISEA. We find that ISEA populations of R. exulans contain the highest mtDNA lineage diversity including significant haplotype diversity not represented elsewhere in the species range. Within ISEA, the island of Flores in the Lesser Sunda group contains the highest diversity in ISEA (across all loci and also has a deep fossil record of small mammals that appears to include R. exulans. Therefore, in addition to Flores harboring unusual diversity in the form of Homo floresiensis, dwarfed stegodons and giant rats, this island appears to be the homeland of R. exulans.

  2. Evidence for an intrinsic factor promoting landscape genetic divergence in Madagascan leaf-litter frogs.

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    Wollenberg Valero, Katharina C

    2015-01-01

    The endemic Malagasy frog radiations are an ideal model system to study patterns and processes of speciation in amphibians. Large-scale diversity patterns of these frogs, together with other endemic animal radiations, led to the postulation of new and the application of known hypotheses of species diversification causing diversity patterns in this biodiversity hotspot. Both extrinsic and intrinsic factors have been studied in a comparative framework, with extrinsic factors usually being related to the physical environment (landscape, climate, river catchments, mountain chains), and intrinsic factors being clade-specific traits or constraints (reproduction, ecology, morphology, physiology). Despite some general patterns emerging from such large-scale comparative analyses, it became clear that the mechanism of diversification in Madagascar may vary among clades, and may be a multifactorial process. In this contribution, I test for intrinsic factors promoting population-level divergence within a clade of terrestrial, diurnal leaf-litter frogs (genus Gephyromantis) that has previously been shown to diversify according to extrinsic factors. Landscape genetic analyses of the microendemic species Gephyromantis enki and its widely distributed, larger sister species Gephyromantis boulengeri over a rugged landscape in the Ranomafana area shows that genetic variance of the smaller species cannot be explained by landscape resistance alone. Both topographic and riverine barriers are found to be important in generating this divergence. This case study yields additional evidence for the probable importance of body size in lineage diversification.

  3. Mathematics is differentially related to reading comprehension and word decoding: Evidence from a genetically-sensitive design

    Science.gov (United States)

    Harlaar, Nicole; Kovas, Yulia; Dale, Philip S.; Petrill, Stephen A.; Plomin, Robert

    2013-01-01

    Although evidence suggests that individual differences in reading and mathematics skills are correlated, this relationship has typically only been studied in relation to word decoding or global measures of reading. It is unclear whether mathematics is differentially related to word decoding and reading comprehension. The current study examined these relationships at both a phenotypic and etiological level in a population-based cohort of 5162 twin pairs at age 12. Multivariate genetic analyses of latent phenotypic factors of mathematics, word decoding and reading comprehension revealed substantial genetic and shared environmental correlations among all three domains. However, the phenotypic and genetic correlations between mathematics and reading comprehension were significantly greater than between mathematics and word decoding. Independent of mathematics, there was also evidence for genetic and nonshared environmental links between word decoding and reading comprehension. These findings indicate that word decoding and reading comprehension have partly distinct relationships with mathematics in the middle school years. PMID:24319294

  4. A critical evaluation of the evidence supporting the practice of behavioural vision therapy.

    Science.gov (United States)

    Barrett, Brendan T

    2009-01-01

    In 2000, the UK's College of Optometrists commissioned a report to critically evaluate the theory and practice of behavioural optometry. The report which followed Jennings (2000; Behavioural optometry--a critical review. Optom. Pract. 1: 67) concluded that there was a lack of controlled clinical trials to support behavioural management strategies. The purpose of this report was to evaluate the evidence in support of behavioural approaches as it stands in 2008. The available evidence was reviewed under 10 headings, selected because they represent patient groups/conditions that behavioural optometrists are treating, or because they represent approaches to treatment that have been advocated in the behavioural literature. The headings selected were: (1) vision therapy for accommodation/vergence disorders; (2) the underachieving child; (3) prisms for near binocular disorders and for producing postural change; (4) near point stress and low-plus prescriptions; (5) use of low-plus lenses at near to slow the progression of myopia; (6) therapy to reduce myopia; (7) behavioural approaches to the treatment of strabismus and amblyopia; (8) training central and peripheral awareness and syntonics; (9) sports vision therapy; (10) neurological disorders and neuro-rehabilitation after trauma/stroke. There is a continued paucity of controlled trials in the literature to support behavioural optometry approaches. Although there are areas where the available evidence is consistent with claims made by behavioural optometrists (most notably in relation to the treatment of convergence insufficiency, the use of yoked prisms in neurological patients, and in vision rehabilitation after brain disease/injury), a large majority of behavioural management approaches are not evidence-based, and thus cannot be advocated.

  5. Sustainability of evidence-based healthcare: research agenda, methodological advances, and infrastructure support.

    Science.gov (United States)

    Proctor, Enola; Luke, Douglas; Calhoun, Annaliese; McMillen, Curtis; Brownson, Ross; McCrary, Stacey; Padek, Margaret

    2015-06-11

    Little is known about how well or under what conditions health innovations are sustained and their gains maintained once they are put into practice. Implementation science typically focuses on uptake by early adopters of one healthcare innovation at a time. The later-stage challenges of scaling up and sustaining evidence-supported interventions receive too little attention. This project identifies the challenges associated with sustainability research and generates recommendations for accelerating and strengthening this work. A multi-method, multi-stage approach, was used: (1) identifying and recruiting experts in sustainability as participants, (2) conducting research on sustainability using concept mapping, (3) action planning during an intensive working conference of sustainability experts to expand the concept mapping quantitative results, and (4) consolidating results into a set of recommendations for research, methodological advances, and infrastructure building to advance understanding of sustainability. Participants comprised researchers, funders, and leaders in health, mental health, and public health with shared interest in the sustainability of evidence-based health care. Prompted to identify important issues for sustainability research, participants generated 91 distinct statements, for which a concept mapping process produced 11 conceptually distinct clusters. During the conference, participants built upon the concept mapping clusters to generate recommendations for sustainability research. The recommendations fell into three domains: (1) pursue high priority research questions as a unified agenda on sustainability; (2) advance methods for sustainability research; (3) advance infrastructure to support sustainability research. Implementation science needs to pursue later-stage translation research questions required for population impact. Priorities include conceptual consistency and operational clarity for measuring sustainability, developing evidence

  6. Screening and genetic manipulation of green organisms for establishment of biological life support systems in space.

    Science.gov (United States)

    Saei, Amir Ata; Omidi, Amir Ali; Barzegari, Abolfazl

    2013-01-01

    Curiosity has driven humankind to explore and conquer space. However, today, space research is not a means to relieve this curiosity anymore, but instead has turned into a need. To support the crew in distant expeditions, supplies should either be delivered from the Earth, or prepared for short durations through physiochemical methods aboard the space station. Thus, research continues to devise reliable regenerative systems. Biological life support systems may be the only answer to human autonomy in outposts beyond Earth. For construction of an artificial extraterrestrial ecosystem, it is necessary to search for highly adaptable super-organisms capable of growth in harsh space environments. Indeed, a number of organisms have been proposed for cultivation in space. Meanwhile, some manipulations can be done to increase their photosynthetic potential and stress tolerance. Genetic manipulation and screening of plants, microalgae and cyanobacteria is currently a fascinating topic in space bioengineering. In this commentary, we will provide a viewpoint on the realities, limitations and promises in designing biological life support system based on engineered and/or selected green organism. Special focus will be devoted to the engineering of key photosynthetic enzymes in pioneer green organisms and their potential use in establishment of transgenic photobioreactors in space.

  7. Global genetic variation at OAS1 provides evidence of archaic admixture in Melanesian populations.

    Science.gov (United States)

    Mendez, Fernando L; Watkins, Joseph C; Hammer, Michael F

    2012-06-01

    Recent analysis of DNA extracted from two Eurasian forms of archaic human shows that more genetic variants are shared with humans currently living in Eurasia than with anatomically modern humans in sub-Saharan Africa. Although these genome-wide average measures of genetic similarity are consistent with the hypothesis of archaic admixture in Eurasia, analyses of individual loci exhibiting the signal of archaic introgression are needed to test alternative hypotheses and investigate the admixture process. Here, we provide a detailed sequence analysis of the innate immune gene OAS1, a locus with a divergent Melanesian haplotype that is very similar to the Denisova sequence from the Altai region of Siberia. We resequenced a 7-kb region encompassing the OAS1 gene in 88 individuals from six Old World populations (San, Biaka, Mandenka, French Basque, Han Chinese, and Papua New Guineans) and discovered previously unknown and ancient genetic variation. The 5' region of this gene has unusual patterns of diversity, including 1) higher levels of nucleotide diversity in Papuans than in sub-Saharan Africans, 2) very deep ancestry with an estimated time to the most recent common ancestor of >3 myr, and 3) a basal branching pattern with Papuan individuals on either side of the rooted network. A global geographic survey of >1,500 individuals showed that the divergent Papuan haplotype is nearly restricted to populations from eastern Indonesia and Melanesia. Polymorphic sites within this haplotype are shared with the draft Denisova genome over a span of ∼90 kb and are associated with an extended block of linkage disequilibrium, supporting the hypothesis that this haplotype introgressed from an archaic source that likely lived in Eurasia.

  8. The role of support groups in facilitating families in coping with a genetic condition and in discussion of genetic risk information.

    Science.gov (United States)

    Plumridge, Gillian; Metcalfe, Alison; Coad, Jane; Gill, Paramjit

    2012-09-01

      Giving children and young people information about genetic conditions and associated risk has been shown to be important to their identity, coping and decision making. Parents, however, find talking to their children difficult, and support from health professionals is often not available to them.   To explore the role of support groups in family coping, and in assisting parents' communication about risk with children in families affected by an inherited genetic condition.   Semi-structured interviews analysed using grounded theory and informed by models focusing on aspects of family communication.   Affected and unaffected children and their parents, from families affected by one of six genetic conditions, that represent different patterns of inheritance, and variations in age of onset, life expectancy and impact on families.   Parents often sought support they did not receive elsewhere from support groups. They identified benefits, but also potential disadvantages to this involvement. These related to the specific condition and also whether groups were run solely by parents or had professional input. Support groups rarely helped directly with family communication, but attendance often stimulated family discussion, and they provided information that improved parents' confidence in discussing the condition.   Support groups should be seen only as additional to the support offered by health and social care professionals. An increased understanding of the role of support groups in assisting families with genetic conditions has been highlighted, but further work is needed to explore more fully how this may be made more sustainable and far-reaching. © 2011 Blackwell Publishing Ltd.

  9. Historical Invasion Records Can Be Misleading: Genetic Evidence for Multiple Introductions of Invasive Raccoons (Procyon lotor) in Germany.

    Science.gov (United States)

    Fischer, Mari L; Hochkirch, Axel; Heddergott, Mike; Schulze, Christoph; Anheyer-Behmenburg, Helena E; Lang, Johannes; Michler, Frank-Uwe; Hohmann, Ulf; Ansorge, Hermann; Hoffmann, Lothar; Klein, Roland; Frantz, Alain C

    2015-01-01

    Biological invasions provide excellent study systems to understand evolutionary, genetic and ecological processes during range expansions. There is strong evidence for positive effects of high propagule pressure and the associated higher genetic diversity on invasion success, but some species have become invasive despite small founder numbers. The raccoon (Procyon lotor) is often considered as a typical example for such a successful invasion resulting from a small number of founders. The species' largest non-native population in Germany is commonly assumed to stem from a small number of founders and two separate founding events in the 1930s and 1940s. In the present study we analyzed 407 raccoons at 20 microsatellite loci sampled from the invasive range in Western Europe to test if these assumptions are correct. Contrary to the expectations, different genetic clustering methods detected evidence for at least four independent introduction events that gave rise to genetically differentiated subpopulations. Further smaller clusters were either artifacts or resulted from founder events at the range margin and recent release of captive individuals. We also found genetic evidence for on-going introductions of individuals. Furthermore a novel randomization process was used to determine the potential range of founder population size that would suffice to capture all the alleles present in a cluster. Our results falsify the assumption that this species has become widespread and abundant despite being genetically depauperate and show that historical records of species introductions may be misleading.

  10. Historical Invasion Records Can Be Misleading: Genetic Evidence for Multiple Introductions of Invasive Raccoons (Procyon lotor in Germany.

    Directory of Open Access Journals (Sweden)

    Mari L Fischer

    Full Text Available Biological invasions provide excellent study systems to understand evolutionary, genetic and ecological processes during range expansions. There is strong evidence for positive effects of high propagule pressure and the associated higher genetic diversity on invasion success, but some species have become invasive despite small founder numbers. The raccoon (Procyon lotor is often considered as a typical example for such a successful invasion resulting from a small number of founders. The species' largest non-native population in Germany is commonly assumed to stem from a small number of founders and two separate founding events in the 1930s and 1940s. In the present study we analyzed 407 raccoons at 20 microsatellite loci sampled from the invasive range in Western Europe to test if these assumptions are correct. Contrary to the expectations, different genetic clustering methods detected evidence for at least four independent introduction events that gave rise to genetically differentiated subpopulations. Further smaller clusters were either artifacts or resulted from founder events at the range margin and recent release of captive individuals. We also found genetic evidence for on-going introductions of individuals. Furthermore a novel randomization process was used to determine the potential range of founder population size that would suffice to capture all the alleles present in a cluster. Our results falsify the assumption that this species has become widespread and abundant despite being genetically depauperate and show that historical records of species introductions may be misleading.

  11. Cancer Multidisciplinary Team Meetings: Evidence, Challenges, and the Role of Clinical Decision Support Technology

    Directory of Open Access Journals (Sweden)

    Vivek Patkar

    2011-01-01

    Full Text Available Multidisciplinary team (MDT model in cancer care was introduced and endorsed to ensure that care delivery is consistent with the best available evidence. Over the last few years, regular MDT meetings have become a standard practice in oncology and gained the status of the key decision-making forum for patient management. Despite the fact that cancer MDT meetings are well accepted by clinicians, concerns are raised over the paucity of good-quality evidence on their overall impact. There are also concerns over lack of the appropriate support for this important but overburdened decision-making platform. The growing acceptance by clinical community of the health information technology in recent years has created new opportunities and possibilities of using advanced clinical decision support (CDS systems to realise full potential of cancer MDT meetings. In this paper, we present targeted summary of the available evidence on the impact of cancer MDT meetings, discuss the reported challenges, and explore the role that a CDS technology could play in addressing some of these challenges.

  12. Genetic analysis of local Vietnamese chickens provides evidence of gene flow from wild to domestic populations

    Directory of Open Access Journals (Sweden)

    Chi C Vu

    2009-01-01

    Full Text Available Abstract Background Previous studies suggested that multiple domestication events in South and South-East Asia (Yunnan and surrounding areas and India have led to the genesis of modern domestic chickens. Ha Giang province is a northern Vietnamese region, where local chickens, such as the H'mong breed, and wild junglefowl coexist. The assumption was made that hybridisation between wild junglefowl and Ha Giang chickens may have occurred and led to the high genetic diversity previously observed. The objectives of this study were i to clarify the genetic structure of the chicken population within the Ha Giang province and ii to give evidence of admixture with G. gallus. A large survey of the molecular polymorphism for 18 microsatellite markers was conducted on 1082 chickens from 30 communes of the Ha Giang province (HG chickens. This dataset was combined with a previous dataset of Asian breeds, commercial lines and samples of Red junglefowl from Thailand and Vietnam (Ha Noï. Measurements of genetic diversity were estimated both within-population and between populations, and a step-by-step Bayesian approach was performed on the global data set. Results The highest value for expected heterozygosity (> 0.60 was found in HG chickens and in the wild junglefowl populations from Thailand. HG chickens exhibited the highest allelic richness (mean A = 2.9. No significant genetic subdivisions of the chicken population within the Ha Giang province were found. As compared to other breeds, HG chickens clustered with wild populations. Furthermore, the neighbornet tree and the Bayesian clustering analysis showed that chickens from 4 communes were closely related to the wild ones and showed an admixture pattern. Conclusion In the absence of any population structuring within the province, the H'mong chicken, identified from its black phenotype, shared a common gene pool with other chickens from the Ha Giang population. The large number of alleles shared exclusively

  13. Modelling soil water retention using support vector machines with genetic algorithm optimisation.

    Science.gov (United States)

    Lamorski, Krzysztof; Sławiński, Cezary; Moreno, Felix; Barna, Gyöngyi; Skierucha, Wojciech; Arrue, José L

    2014-01-01

    This work presents point pedotransfer function (PTF) models of the soil water retention curve. The developed models allowed for estimation of the soil water content for the specified soil water potentials: -0.98, -3.10, -9.81, -31.02, -491.66, and -1554.78 kPa, based on the following soil characteristics: soil granulometric composition, total porosity, and bulk density. Support Vector Machines (SVM) methodology was used for model development. A new methodology for elaboration of retention function models is proposed. Alternative to previous attempts known from literature, the ν-SVM method was used for model development and the results were compared with the formerly used the C-SVM method. For the purpose of models' parameters search, genetic algorithms were used as an optimisation framework. A new form of the aim function used for models parameters search is proposed which allowed for development of models with better prediction capabilities. This new aim function avoids overestimation of models which is typically encountered when root mean squared error is used as an aim function. Elaborated models showed good agreement with measured soil water retention data. Achieved coefficients of determination values were in the range 0.67-0.92. Studies demonstrated usability of ν-SVM methodology together with genetic algorithm optimisation for retention modelling which gave better performing models than other tested approaches.

  14. Modelling Soil Water Retention Using Support Vector Machines with Genetic Algorithm Optimisation

    Directory of Open Access Journals (Sweden)

    Krzysztof Lamorski

    2014-01-01

    Full Text Available This work presents point pedotransfer function (PTF models of the soil water retention curve. The developed models allowed for estimation of the soil water content for the specified soil water potentials: –0.98, –3.10, –9.81, –31.02, –491.66, and –1554.78 kPa, based on the following soil characteristics: soil granulometric composition, total porosity, and bulk density. Support Vector Machines (SVM methodology was used for model development. A new methodology for elaboration of retention function models is proposed. Alternative to previous attempts known from literature, the ν-SVM method was used for model development and the results were compared with the formerly used the C-SVM method. For the purpose of models’ parameters search, genetic algorithms were used as an optimisation framework. A new form of the aim function used for models parameters search is proposed which allowed for development of models with better prediction capabilities. This new aim function avoids overestimation of models which is typically encountered when root mean squared error is used as an aim function. Elaborated models showed good agreement with measured soil water retention data. Achieved coefficients of determination values were in the range 0.67–0.92. Studies demonstrated usability of ν-SVM methodology together with genetic algorithm optimisation for retention modelling which gave better performing models than other tested approaches.

  15. Social support, volunteering and health around the world: cross-national evidence from 139 countries.

    Science.gov (United States)

    Kumar, Santosh; Calvo, Rocio; Avendano, Mauricio; Sivaramakrishnan, Kavita; Berkman, Lisa F

    2012-03-01

    High levels of social capital and social integration are associated with self-rated health in many developed countries. However, it is not known whether this association extends to non-western and less economically advanced countries. We examine associations between social support, volunteering, and self-rated health in 139 low-, middle- and high-income countries. Data come from the Gallup World Poll, an internationally comparable survey conducted yearly from 2005 to 2009 for those 15 and over. Volunteering was measured by self-reports of volunteering to an organization in the past month. Social support was based on self-reports of access to support from relatives and friends. We started by estimating random coefficient (multi-level) models and then used multivariate logistic regression to model health as a function of social support and volunteering, controlling for age, gender, education, marital status, and religiosity. We found statistically significant evidence of cross-national variation in the association between social capital variables and self-rated health. In the multivariate logistic model, self-rated health were significantly associated with having social support from friends and relatives and volunteering. Results from stratified analyses indicate that these associations are strikingly consistent across countries. Our results indicate that the link between social capital and health is not restricted to high-income countries but extends across many geographical regions regardless of their national-income level.

  16. Phylogeography of Cavernularia hultenii: evidence of slow genetic drift in a widely disjunct lichen.

    Science.gov (United States)

    Printzen, C; Ekman, S; Tønsberg, T

    2003-06-01

    Population structure and history is poorly known in most lichenized ascomycetes. Many species display large-scale infraspecific disjunctions, which have been explained alternately by range fragmentation in species of high age and widespread long-distance dispersal. Using the lichen Cavernularia hultenii, which is widely disjunct across North America and Europe, Pleistocene and Holocene population history was inferred. The internal transcribed spacer (ITS) and part of the the intergenic spacer (IGS) region of the nuclear ribosomal DNA were sequenced in 300 individuals representing 62 populations across the range of the species. While four ancestral haplotypes are found in all areas, none of the observed tip haplotypes is present in more than one of the three part ranges. Although this is evidence for a past fragmentation event, nested clade analysis (NCA) remains equivocal in the choice between allopatric fragmentation and long-distance dispersal. Mismatch distributions indicate exponential population growth, probably during postglacial invasion of C. hultenii into formerly glaciated areas of western North America. The presence of one southern and at least one northern glacial refugium in South Central Alaska is inferred. Evidence for another refugium in the Queen Charlotte Islands or Alexander Archipelago is inconclusive because of sparse sampling. However, a range expansion was not confirmed unambiguously by NCA. The limited power of NCA to infer past range fragmentations and expansions is due apparently to the shallow haplotype network and widespread ancestral haplotypes. This can be explained by slow genetic drift causing incomplete removal of ancestral haplotypes from the postfragmentation and postexpansion areas.

  17. Technology-Driven and Evidence-Based Genomic Analysis for Integrated Pediatric and Prenatal Genetics Evaluation

    Institute of Scientific and Technical Information of China (English)

    Yuan Wei; Fang Xu; Peining Li

    2013-01-01

    The first decade since the completion of the Human Genome Project has been marked with rapid development of genomic technologies and their immediate clinical applications.Genomic analysis using oligonucleotide array comparative genomic hybridization (aCGH) or single nucleotide polymorphism (SNP) chips has been applied to pediatric patients with developmental and intellectual disabilities (DD/ID),multiple congenital anomalies (MCA) and autistic spectrum disorders (ASD).Evaluation of analytical and clinical validities of aCGH showed > 99% sensitivity and specificity and increased analytical resolution by higher density probe coverage.Reviews of case series,multi-center comparison and large patient-control studies demonstrated a diagnostic yield of 12%-20%; approximately 60% of these abnormalities were recurrent genomic disorders.This pediatric experience has been extended toward prenatal diagnosis.A series of reports indicated approximately 10% of pregnancies with ultrasound-detected structural anomalies and normal cytogenetic findings had genomic abnormalities,and 30% of these abnormalities were syndromic genomic disorders.Evidence-based practice guidelines and standards for implementing genomic analysis and web-delivered knowledge resources for interpreting genomic findings have been established.The progress from this technology-driven and evidence-based genomic analysis provides not only opportunities to dissect disease-causing mechanisms and develop rational therapeutic interventions but also important lessons for integrating genomic sequencing into pediatric and prenatal genetic evaluation.

  18. A VR Based Interactive Genetic Algorithm Framework For Design of Support Schemes to Deep Excavations

    Energy Technology Data Exchange (ETDEWEB)

    Wei, Riyu [Univ. of Queensland, Brisbane (Australia); Wu, Heng [Guangxi Univ., Nanning (China)

    2002-11-15

    An interactive genetic algorithm (IGA) framework for the design of support schemes to deep excavations is proposed in this paper, in which virtual reality (VR) is used as an aid to the evaluation of design schemes that is performed interactively. The fitness of a scheme individual is evaluated by two steps. Firstly a fitness value is automatically assigned to a scheme individual according to the the estimated construction cost of the individual. And the human evaluation is introduced to modify the fitness value by taking into account other factors, such as the feasibility factor. The design scheme is composed of four basic categories, i. e., cantilever walls, reinforced soil walls, tieback systems and bracing systems, each of which is encoded by a binary string. To assist human evaluation, 3D models of design schemes are created and visualized in a virtual reality environment, providing designers with a reality sense of various schemes.

  19. Screw Remaining Life Prediction Based on Quantum Genetic Algorithm and Support Vector Machine

    Directory of Open Access Journals (Sweden)

    Xiaochen Zhang

    2017-01-01

    Full Text Available To predict the remaining life of ball screw, a screw remaining life prediction method based on quantum genetic algorithm (QGA and support vector machine (SVM is proposed. A screw accelerated test bench is introduced. Accelerometers are installed to monitor the performance degradation of ball screw. Combined with wavelet packet decomposition and isometric mapping (Isomap, the sensitive feature vectors are obtained and stored in database. Meanwhile, the sensitive feature vectors are randomly chosen from the database and constitute training samples and testing samples. Then the optimal kernel function parameter and penalty factor of SVM are searched with the method of QGA. Finally, the training samples are used to train optimized SVM while testing samples are adopted to test the prediction accuracy of the trained SVM so the screw remaining life prediction model can be got. The experiment results show that the screw remaining life prediction model could effectively predict screw remaining life.

  20. Quantitative Recognizing Dissolved Hydrocarbons with Genetic Algorithm-Support Vector Regression

    Directory of Open Access Journals (Sweden)

    Qu Zhou

    2013-09-01

    Full Text Available Online monitoring of dissolved fault characteristic hydrocarbon gases, such as methane, ethane, ethylene and acetylene in power transformer oil has significant meaning for condition assessment of transformer. Recently, semiconductor tin oxide based gas sensor array has been widely applied in online monitoring apparatus, while cross sensitivity of the gas sensor array is inevitable due to same compositions and similar structures among the four hydrocarbon gases. Based on support vector regression (SVR with genetic algorithm (GA, a new pattern recognition method was proposed to reduce the cross sensitivity of the gas sensor array and further quantitatively recognize the concentration of dissolved hydrocarbon gases. The experimental data from a certain online monitoring device in China is used to illustrate the performance of the proposed GA-SVR model. Experimental results indicate that the GA-SVR method can effectively decrease the cross sensitivity and the regressed data is much more closed to the real values.

  1. Genetic evidence links invasive monk parakeet populations in the United States to the international pet trade

    Directory of Open Access Journals (Sweden)

    Avery Michael L

    2008-07-01

    Full Text Available Abstract Background Severe ecological and economic impacts caused by some invasive species make it imperative to understand the attributes that permit them to spread. A notorious crop pest across its native range in South America, the monk parakeet (Myiopsitta monachus has become established on four other continents, including growing populations in the United States. As a critical first step to studying mechanisms of invasion success in this species, here we elucidated the geographical and taxonomic history of the North American invasions of the monk parakeet. Specifically, we conducted a genetic assessment of current monk parakeet taxonomy based on mitochondrial DNA control region sequences from 73 museum specimens. These data supported comparative analyses of mtDNA lineage diversity in the native and naturalized ranges of the monk parakeet and allowed for identification of putative source populations. Results There was no molecular character support for the M. m. calita, M. m. cotorra, and M. m. monachus subspecies, while the Bolivian M. m. luchsi was monophyletic and diagnosably distinct. Three haplotypes sampled in the native range were detected within invasive populations in Florida, Connecticut, New Jersey and Rhode Island, the two most common of which were unique to M. m. monachus samples from eastern Argentina and bordering areas in Brazil and Uruguay. Conclusion The lack of discrete morphological character differences in tandem with the results presented here suggest that M. m. calita, M. m. cotorra and M. m. monachus are in need of formal taxonomic revision. The genetic distinctiveness of M. m. luchsi is consistent with previous recommendations of allospecies status for this taxon. The geographic origins of haplotypes sampled in the four U.S. populations are concordant with trapping records from the mid-20th century and suggest that propagule pressure exerted by the international pet bird trade contributed to the establishment of

  2. Genetic evidence links invasive monk parakeet populations in the United States to the international pet trade.

    Science.gov (United States)

    Russello, Michael A; Avery, Michael L; Wright, Timothy F

    2008-07-24

    Severe ecological and economic impacts caused by some invasive species make it imperative to understand the attributes that permit them to spread. A notorious crop pest across its native range in South America, the monk parakeet (Myiopsitta monachus) has become established on four other continents, including growing populations in the United States. As a critical first step to studying mechanisms of invasion success in this species, here we elucidated the geographical and taxonomic history of the North American invasions of the monk parakeet. Specifically, we conducted a genetic assessment of current monk parakeet taxonomy based on mitochondrial DNA control region sequences from 73 museum specimens. These data supported comparative analyses of mtDNA lineage diversity in the native and naturalized ranges of the monk parakeet and allowed for identification of putative source populations. There was no molecular character support for the M. m. calita, M. m. cotorra, and M. m. monachus subspecies, while the Bolivian M. m. luchsi was monophyletic and diagnosably distinct. Three haplotypes sampled in the native range were detected within invasive populations in Florida, Connecticut, New Jersey and Rhode Island, the two most common of which were unique to M. m. monachus samples from eastern Argentina and bordering areas in Brazil and Uruguay. The lack of discrete morphological character differences in tandem with the results presented here suggest that M. m. calita, M. m. cotorra and M. m. monachus are in need of formal taxonomic revision. The genetic distinctiveness of M. m. luchsi is consistent with previous recommendations of allospecies status for this taxon. The geographic origins of haplotypes sampled in the four U.S. populations are concordant with trapping records from the mid-20th century and suggest that propagule pressure exerted by the international pet bird trade contributed to the establishment of invasive populations in the United States.

  3. Evaluation of a novel electronic genetic screening and clinical decision support tool in prenatal clinical settings.

    Science.gov (United States)

    Edelman, Emily A; Lin, Bruce K; Doksum, Teresa; Drohan, Brian; Edelson, Vaughn; Dolan, Siobhan M; Hughes, Kevin; O'Leary, James; Vasquez, Lisa; Copeland, Sara; Galvin, Shelley L; DeGroat, Nicole; Pardanani, Setul; Gregory Feero, W; Adams, Claire; Jones, Renee; Scott, Joan

    2014-07-01

    "The Pregnancy and Health Profile" (PHP) is a free prenatal genetic screening and clinical decision support (CDS) software tool for prenatal providers. PHP collects family health history (FHH) during intake and provides point-of-care risk assessment for providers and education for patients. This pilot study evaluated patient and provider responses to PHP and effects of using PHP in practice. PHP was implemented in four clinics. Surveys assessed provider confidence and knowledge and patient and provider satisfaction with PHP. Data on the implementation process were obtained through semi-structured interviews with administrators. Quantitative survey data were analyzed using Chi square test, Fisher's exact test, paired t tests, and multivariate logistic regression. Open-ended survey questions and interviews were analyzed using qualitative thematic analysis. Of the 83% (513/618) of patients that provided feedback, 97% felt PHP was easy to use and 98% easy to understand. Thirty percent (21/71) of participating physicians completed both pre- and post-implementation feedback surveys [13 obstetricians (OBs) and 8 family medicine physicians (FPs)]. Confidence in managing genetic risks significantly improved for OBs on 2/6 measures (p values ≤0.001) but not for FPs. Physician knowledge did not significantly change. Providers reported value in added patient engagement and reported mixed feedback about the CDS report. We identified key steps, resources, and staff support required to implement PHP in a clinical setting. To our knowledge, this study is the first to report on the integration of patient-completed, electronically captured and CDS-enabled FHH software into primary prenatal practice. PHP is acceptable to patients and providers. Key to successful implementation in the future will be customization options and interoperability with electronic health records.

  4. Ocean Acidification and the End-Permian Mass Extinction: To What Extent does Evidence Support Hypothesis?

    Directory of Open Access Journals (Sweden)

    Marie-Béatrice Forel

    2012-09-01

    Full Text Available Ocean acidification in modern oceans is linked to rapid increase in atmospheric CO2, raising concern about marine diversity, food security and ecosystem services. Proxy evidence for acidification during past crises may help predict future change, but three issues limit confidence of comparisons between modern and ancient ocean acidification, illustrated from the end-Permian extinction, 252 million years ago: (1 problems with evidence for ocean acidification preserved in sedimentary rocks, where proposed marine dissolution surfaces may be subaerial. Sedimentary evidence that the extinction was partly due to ocean acidification is therefore inconclusive; (2 Fossils of marine animals potentially affected by ocean acidification are imperfect records of past conditions; selective extinction of hypercalcifying organisms is uncertain evidence for acidification; (3 The current high rates of acidification may not reflect past rates, which cannot be measured directly, and whose temporal resolution decreases in older rocks. Thus large increases in CO2 in the past may have occurred over a long enough time to have allowed assimilation into the oceans, and acidification may not have stressed ocean biota to the present extent. Although we acknowledge the very likely occurrence of past ocean acidification, obtaining support presents a continuing challenge for the Earth science community.

  5. Force That Increases at Larger Distance Has Some Psychological and Astronomical Evidence Supporting its Existence

    Science.gov (United States)

    Struck, James

    2011-09-01

    Force that Increases with distance is different than dark energy as I am arguing for existence of force based on psychological and astronomical bases. Hubble shift, doppler shift, comet return, quasar zoo and quasars and psychological evidence of interest in distant objects lends support to a force like gravity, nuclear, weak, strong, virtual, decay, biological, growth forces which increases its intensity with distance unlike gravity which decreases in intensity with distance. Jane Frances Back Struck contributed to this finding with her request that her grandparents have "perfect justice" even though her grandparents had died before she was born; interest increasing with distance from grandparents.

  6. Supporting evidence-based medicine: a survey of U.S. medical librarians.

    Science.gov (United States)

    Li, Ping; Wu, Lin

    2011-01-01

    This study sought to identify medical librarians' roles in supporting evidence-based medicine (EBM) practice; determine whether medical librarians' work settings, work experiences, or job titles made a difference in their EBM responsibilities; and find out medical librarians' perceptions of their roles in EBM practice. An online survey was distributed to U.S. medical librarians. The results showed that medical librarians had positive perceptions of their EBM-related responsibilities, which were diverse and specific. Their work experience, work settings, and job title categories related to some of their EBM responsibilities, as well as the nature of some of the responsibilities.

  7. Evidence does not support absorption of intact solid lipid nanoparticles via oral delivery

    Science.gov (United States)

    Hu, Xiongwei; Fan, Wufa; Yu, Zhou; Lu, Yi; Qi, Jianping; Zhang, Jian; Dong, Xiaochun; Zhao, Weili; Wu, Wei

    2016-03-01

    Whether and to what extent solid lipid nanoparticles (SLNs) can be absorbed integrally via oral delivery should be clarified because it is the basis for elucidation of absorption mechanisms. To address this topic, the in vivo fate of SLNs as well as their interaction with biomembranes is investigated using water-quenching fluorescent probes that can signal structural variations of lipid-based nanocarriers. Live imaging indicates prolonged retention of SLNs in the stomach, whereas in the intestine, SLNs can be digested quickly. No translocation of intact SLNs to other organs or tissues can be observed. The in situ perfusion study shows bioadhesion of both SLNs and simulated mixed micelles (SMMs) to intestinal mucus, but no evidence of penetration of integral nanocarriers. Both SLNs and SMMs exhibit significant cellular uptake, but fail to penetrate cell monolayers. Confocal laser scanning microscopy reveals that nanocarriers mainly concentrate on the surface of the monolayers, and no evidence of penetration of intact vehicles can be obtained. The mucous layer acts as a barrier to the penetration of both SLNs and SMMs. Both bile salt-decoration and SMM formulation help to strengthen the interaction with biomembranes. It is concluded that evidence does not support absorption of intact SLNs via oral delivery.Whether and to what extent solid lipid nanoparticles (SLNs) can be absorbed integrally via oral delivery should be clarified because it is the basis for elucidation of absorption mechanisms. To address this topic, the in vivo fate of SLNs as well as their interaction with biomembranes is investigated using water-quenching fluorescent probes that can signal structural variations of lipid-based nanocarriers. Live imaging indicates prolonged retention of SLNs in the stomach, whereas in the intestine, SLNs can be digested quickly. No translocation of intact SLNs to other organs or tissues can be observed. The in situ perfusion study shows bioadhesion of both SLNs and

  8. Further Evidence in Support of the Universal Nilpotent Grammatical Computational Paradigm of Quantum Physics

    Science.gov (United States)

    Marcer, Peter J.; Rowlands, Peter

    2010-12-01

    hypothesize on substantial evidence [26], includes that of the RNA / DNA genetic code and, as holographic phase encodings / holograms, the 4D geometries of all living systems as self-organised grammatical computational rewrite machines / machinery. Human brains, natural grammatical (written symbol) languages, 4D geometric self-awareness and a totally new emergent property of matter, human consciousness, can thus with some measure of confidence be postulated as further genetic consequences which follow from this self-organizing fundamental rewrite NUCRS construction. For it, like natural language, possesses a semantics and not just a syntax, where the initial symbol, i.e. the arbitrary fixed phase measurement standard, is able to function as the template for the blueprints of the emergent 4D relativistic real and virtual geometries to come, in a `from the Self Creation to the creation of the human self' computational rewrite process evolution.

  9. Cerebrospinal fluid metabolomics identifies a key role of isocitrate dehydrogenase in bipolar disorder: evidence in support of mitochondrial dysfunction hypothesis

    Science.gov (United States)

    Yoshimi, N; Futamura, T; Bergen, S E; Iwayama, Y; Ishima, T; Sellgren, C; Ekman, C J; Jakobsson, J; Pålsson, E; Kakumoto, K; Ohgi, Y; Yoshikawa, T; Landén, M; Hashimoto, K

    2016-01-01

    Although evidence for mitochondrial dysfunction in the pathogenesis of bipolar disorder (BD) has been reported, the precise biological basis remains unknown, hampering the search for novel biomarkers. In this study, we performed metabolomics of cerebrospinal fluid (CSF) from male BD patients (n=54) and age-matched male healthy controls (n=40). Subsequently, post-mortem brain analyses, genetic analyses, metabolomics of CSF samples from rats treated with lithium or valproic acid were also performed. After multivariate logistic regression, isocitric acid (isocitrate) levels were significantly higher in the CSF from BD patients than healthy controls. Furthermore, gene expression of two subtypes (IDH3A and IDH3B) of isocitrate dehydrogenase (IDH) in the dorsolateral prefrontal cortex from BD patients was significantly lower than that of controls, although the expression of other genes including, aconitase (ACO1, ACO2), IDH1, IDH2 and IDH3G, were not altered. Moreover, protein expression of IDH3A in the cerebellum from BD patients was higher than that of controls. Genetic analyses showed that IDH genes (IDH1, IDH2, IDH3A, IDH3B) and ACO genes (ACO1, ACO2) were not associated with BD. Chronic (4 weeks) treatment with lithium or valproic acid in rats did not alter CSF levels of isocitrate, and mRNA levels of Idh3a, Idh3b, Aco1 and Aco2 genes in the rat brain. These findings suggest that abnormality in the metabolism of isocitrate by IDH3A in the mitochondria plays a key role in the pathogenesis of BD, supporting the mitochondrial dysfunction hypothesis of BD. Therefore, IDH3 in the citric acid cycle could potentially be a novel therapeutic target for BD. PMID:26782057

  10. METEOR: An Enterprise Health Informatics Environment to Support Evidence-Based Medicine.

    Science.gov (United States)

    Puppala, Mamta; He, Tiancheng; Chen, Shenyi; Ogunti, Richard; Yu, Xiaohui; Li, Fuhai; Jackson, Robert; Wong, Stephen T C

    2015-12-01

    The aim of this paper is to propose the design and implementation of next-generation enterprise analytics platform developed at the Houston Methodist Hospital (HMH) system to meet the market and regulatory needs of the healthcare industry. For this goal, we developed an integrated clinical informatics environment, i.e., Methodist environment for translational enhancement and outcomes research (METEOR). The framework of METEOR consists of two components: the enterprise data warehouse (EDW) and a software intelligence and analytics (SIA) layer for enabling a wide range of clinical decision support systems that can be used directly by outcomes researchers and clinical investigators to facilitate data access for the purposes of hypothesis testing, cohort identification, data mining, risk prediction, and clinical research training. Data and usability analysis were performed on METEOR components as a preliminary evaluation, which successfully demonstrated that METEOR addresses significant niches in the clinical informatics area, and provides a powerful means for data integration and efficient access in supporting clinical and translational research. METEOR EDW and informatics applications improved outcomes, enabled coordinated care, and support health analytics and clinical research at HMH. The twin pressures of cost containment in the healthcare market and new federal regulations and policies have led to the prioritization of the meaningful use of electronic health records in the United States. EDW and SIA layers on top of EDW are becoming an essential strategic tool to healthcare institutions and integrated delivery networks in order to support evidence-based medicine at the enterprise level.

  11. Iberian red deer: paraphyletic nature at mtDNA but nuclear markers support its genetic identity.

    Science.gov (United States)

    Carranza, Juan; Salinas, María; de Andrés, Damián; Pérez-González, Javier

    2016-02-01

    Red deer populations in the Iberian glacial refugium were the main source for postglacial recolonization and subspecific radiation in north-western Europe. However, the phylogenetic history of Iberian red deer (Cervus elaphus hispanicus) and its relationships with northern European populations remain uncertain. Here, we study DNA sequences at the mitochondrial control region along with STR markers for over 680 specimens from all the main red deer populations in Spain and other west European areas. Our results from mitochondrial and genomic DNA show contrasting patterns, likely related to the nature of these types of DNA markers and their specific processes of change over time. The results, taken together, bring support to two distinct, cryptic maternal lineages for Iberian red deer that predated the last glacial maximum and that have maintained geographically well differentiated until present. Haplotype relationships show that only one of them contributed to the northern postglacial recolonization. However, allele frequencies of nuclear markers evidenced one main differentiation between Iberian and northern European subspecies although also supported the structure of both matrilines within Iberia. Thus, our findings reveal a paraphyletic nature for Iberian red deer but also its genetic identity and differentiation with respect to northern subspecies. Finally, we suggest that maintaining the singularity of Iberian red deer requires preventing not only restocking practices with red deer specimens belonging to other European populations but also translocations between both Iberian lineages.

  12. Genetic evidence of paleolithic colonization and neolithic expansion of modern humans on the tibetan plateau.

    Science.gov (United States)

    Qi, Xuebin; Cui, Chaoying; Peng, Yi; Zhang, Xiaoming; Yang, Zhaohui; Zhong, Hua; Zhang, Hui; Xiang, Kun; Cao, Xiangyu; Wang, Yi; Ouzhuluobu; Basang; Ciwangsangbu; Bianba; Gonggalanzi; Wu, Tianyi; Chen, Hua; Shi, Hong; Su, Bing

    2013-08-01

    Tibetans live on the highest plateau in the world, their current population size is approximately 5 million, and most of them live at an altitude exceeding 3,500 m. Therefore, the Tibetan Plateau is a remarkable area for cultural and biological studies of human population history. However, the chronological profile of the Tibetan Plateau's colonization remains an unsolved question of human prehistory. To reconstruct the prehistoric colonization and demographic history of modern humans on the Tibetan Plateau, we systematically sampled 6,109 Tibetan individuals from 41 geographic populations across the entire region of the Tibetan Plateau and analyzed the phylogeographic patterns of both paternal (n = 2,354) and maternal (n = 6,109) lineages as well as genome-wide single nucleotide polymorphism markers (n = 50) in Tibetan populations. We found that there have been two distinct, major prehistoric migrations of modern humans into the Tibetan Plateau. The first migration was marked by ancient Tibetan genetic signatures dated to approximately 30,000 years ago, indicating that the initial peopling of the Tibetan Plateau by modern humans occurred during the Upper Paleolithic rather than Neolithic. We also found evidences for relatively young (only 7-10 thousand years old) shared Y chromosome and mitochondrial DNA haplotypes between Tibetans and Han Chinese, suggesting a second wave of migration during the early Neolithic. Collectively, the genetic data indicate that Tibetans have been adapted to a high altitude environment since initial colonization of the Tibetan Plateau in the early Upper Paleolithic, before the last glacial maximum, followed by a rapid population expansion that coincided with the establishment of farming and yak pastoralism on the Plateau in the early Neolithic.

  13. Genetic Structure of Water Chestnut Beetle: Providing Evidence for Origin of Water Chestnut

    Science.gov (United States)

    Qin, Jing; Lu, Ming-Xing; Du, Yu-Zhou

    2016-01-01

    Water chestnut beetle (Galerucella birmanica Jacoby) is a pest of the water chestnut (Trapa natans L.). To analyze the phylogeny and biogeography of the beetle and provide evidence for the origin of T. natans in China, we conducted this by using three mitochondrial genes (COI, COII and Cytb) and nuclear ITS2 ribosomal DNA of G. birmanica. As for mtDNA genes, the beetle could be subdivided into three groups: northeastern China (NEC), central-northern-southern China (CC-NC-SC) and southwestern China (SWC) based on SAMOVA, phylogenetic analyses and haplotype networks. But for ITS2, no obvious lineages were obtained but individuals which were from NEC region clustered into one clade, which might be due to sequence conservation of ITS2. Significant genetic variation was observed among the three groups with infrequent gene flow between groups, which may have been restricted due to natural barriers and events in the Late Pleistocene. Based on our analyses of genetic variation in the CC-NC-SC geographical region, the star-like haplotype networks, approximate Bayesian computation, niche modelling and phylogeographic variation of the beetle, we concluded that the beetle population has been lasting in the lower, central reaches of the Yangtze River Basin with its host plant, water chestnut, which is consistent with archaeological records. Moreover, we speculate that the CC-NC-SC population of G. birmanica may have undergone a period of expansion coincident with domestication of the water chestnut approximately 113,900–126,500 years ago. PMID:27459279

  14. Genetic Evidence for a Causal Role of Obesity in Diabetic Kidney Disease.

    Science.gov (United States)

    Todd, Jennifer N; Dahlström, Emma H; Salem, Rany M; Sandholm, Niina; Forsblom, Carol; McKnight, Amy J; Maxwell, Alexander P; Brennan, Eoin; Sadlier, Denise; Godson, Catherine; Groop, Per-Henrik; Hirschhorn, Joel N; Florez, Jose C

    2015-12-01

    Obesity has been posited as an independent risk factor for diabetic kidney disease (DKD), but establishing causality from observational data is problematic. We aimed to test whether obesity is causally related to DKD using Mendelian randomization, which exploits the random assortment of genes during meiosis. In 6,049 subjects with type 1 diabetes, we used a weighted genetic risk score (GRS) comprised of 32 validated BMI loci as an instrument to test the relationship of BMI with macroalbuminuria, end-stage renal disease (ESRD), or DKD defined as presence of macroalbuminuria or ESRD. We compared these results with cross-sectional and longitudinal observational associations. Longitudinal analysis demonstrated a U-shaped relationship of BMI with development of macroalbuminuria, ESRD, or DKD over time. Cross-sectional observational analysis showed no association with overall DKD, higher odds of macroalbuminuria (for every 1 kg/m(2) higher BMI, odds ratio [OR] 1.05, 95% CI 1.03-1.07, P < 0.001), and lower odds of ESRD (OR 0.95, 95% CI 0.93-0.97, P < 0.001). Mendelian randomization analysis showed a 1 kg/m(2) higher BMI conferring an increased risk in macroalbuminuria (OR 1.28, 95% CI 1.11-1.45, P = 0.001), ESRD (OR 1.43, 95% CI 1.20-1.72, P < 0.001), and DKD (OR 1.33, 95% CI 1.17-1.51, P < 0.001). Our results provide genetic evidence for a causal link between obesity and DKD in type 1 diabetes. As obesity prevalence rises, this finding predicts an increase in DKD prevalence unless intervention should occur. © 2015 by the American Diabetes Association. Readers may use this article as long as the work is properly cited, the use is educational and not for profit, and the work is not altered.

  15. Cervical Cancer Genetic Susceptibility: A Systematic Review and Meta-Analyses of Recent Evidence.

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    Gabriela A Martínez-Nava

    Full Text Available Cervical cancer (CC has one of the highest mortality rates among women worldwide. Several efforts have been made to identify the genetic susceptibility factors underlying CC development. However, only a few polymorphisms have shown consistency among studies.We conducted a systematic review of all recent case-control studies focused on the evaluation of single nucleotide polymorphisms (SNPs and CC risk, stringently following the "PRISMA" statement recommendations. The MEDLINE data base was used for the search. A total of 100 case-control studies were included in the meta-analysis. Polymorphisms that had more than two reports were meta-analyzed by fixed or random models according to the heterogeneity presented among studies.We found significant negative association between the dominant inheritance model of p21 rs1801270 polymorphism (C/A+A/A and CC (pooled OR = 0.76; 95%CI: 0.63-0.91; p<0.01. We also found a negative association with the rs2048718 BRIP1 polymorphism dominant inheritance model (T/C+C/C and CC (pooled OR = 0.83; 95%CI: 0.70-0.98; p = 0.03, as well as with the rs11079454 BRIP1 polymorphism recessive inheritance model and CC (pooled OR = 0.79; 95%CI: 0.63-0.99; p = 0.04. Interestingly, we observed a strong tendency of the meta-analyzed studies to be of Asiatic origin (67%. We also found a significant low representation of African populations (4%.Our results provide evidence of the negative association of p21 rs1801270 polymorphism, as well as BRIP1 rs2048718 and rs11079454 polymorphisms, with CC risk. This study suggests the urgent need for more replication studies focused on GWAS identified CC susceptibility variants, in order to reveal the most informative genetic susceptibility markers for CC across different populations.

  16. Cervical Cancer Genetic Susceptibility: A Systematic Review and Meta-Analyses of Recent Evidence

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    Martínez-Nava, Gabriela A.; Fernández-Niño, Julián A.; Madrid-Marina, Vicente; Torres-Poveda, Kirvis

    2016-01-01

    Introduction Cervical cancer (CC) has one of the highest mortality rates among women worldwide. Several efforts have been made to identify the genetic susceptibility factors underlying CC development. However, only a few polymorphisms have shown consistency among studies. Materials and Methods We conducted a systematic review of all recent case-control studies focused on the evaluation of single nucleotide polymorphisms (SNPs) and CC risk, stringently following the “PRISMA” statement recommendations. The MEDLINE data base was used for the search. A total of 100 case-control studies were included in the meta-analysis. Polymorphisms that had more than two reports were meta-analyzed by fixed or random models according to the heterogeneity presented among studies. Results We found significant negative association between the dominant inheritance model of p21 rs1801270 polymorphism (C/A+A/A) and CC (pooled OR = 0.76; 95%CI: 0.63–0.91; p<0.01). We also found a negative association with the rs2048718 BRIP1 polymorphism dominant inheritance model (T/C+C/C) and CC (pooled OR = 0.83; 95%CI: 0.70–0.98; p = 0.03), as well as with the rs11079454 BRIP1 polymorphism recessive inheritance model and CC (pooled OR = 0.79; 95%CI: 0.63–0.99; p = 0.04). Interestingly, we observed a strong tendency of the meta-analyzed studies to be of Asiatic origin (67%). We also found a significant low representation of African populations (4%). Conclusions Our results provide evidence of the negative association of p21 rs1801270 polymorphism, as well as BRIP1 rs2048718 and rs11079454 polymorphisms, with CC risk. This study suggests the urgent need for more replication studies focused on GWAS identified CC susceptibility variants, in order to reveal the most informative genetic susceptibility markers for CC across different populations. PMID:27415837

  17. Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review).

    Science.gov (United States)

    England, J D; Gronseth, G S; Franklin, G; Carter, G T; Kinsella, L J; Cohen, J A; Asbury, A K; Szigeti, K; Lupski, J R; Latov, N; Lewis, R A; Low, P A; Fisher, M A; Herrmann, D; Howard, J F; Lauria, G; Miller, R G; Polydefkis, M; Sumner, A J

    2009-01-01

    Distal symmetric polyneuropathy (DSP) is the most common variety of neuropathy. Since the evaluation of this disorder is not standardized, the available literature was reviewed to provide evidence-based guidelines regarding the role of laboratory and genetic tests for the assessment of DSP. A literature review using MEDLINE, EMBASE, Science Citation Index, and Current Contents was performed to identify the best evidence regarding the evaluation of polyneuropathy published between 1980 and March 2007. Articles were classified according to a four-tiered level of evidence scheme and recommendations were based on the level of evidence. (1) Screening laboratory tests may be considered for all patients with polyneuropathy (Level C). Those tests that provide the highest yield of abnormality are blood glucose, serum B(12) with metabolites (methylmalonic acid with or without homocysteine), and serum protein immunofixation electrophoresis (Level C). If there is no definite evidence of diabetes mellitus by routine testing of blood glucose, testing for impaired glucose tolerance may be considered in distal symmetric sensory polyneuropathy (Level C). (2) Genetic testing is established as useful for the accurate diagnosis and classification of hereditary neuropathies (Level A). Genetic testing may be considered in patients with cryptogenic polyneuropathy who exhibit a hereditary neuropathy phenotype (Level C). Initial genetic testing should be guided by the clinical phenotype, inheritance pattern, and electrodiagnostic (EDX) features and should focus on the most common abnormalities, which are CMT1A duplication/HNPP deletion, Cx32 (GJB1), and MFN2 mutation screening. There is insufficient evidence to determine the usefulness of routine genetic testing in patients with cryptogenic polyneuropathy who do not exhibit a hereditary neuropathy phenotype (Level U).

  18. First evidence of genetic intraspecific variability and occurrence of Entamoeba gingivalis in HIV(+)/AIDS.

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    Cembranelli, Sibeli B S; Souto, Fernanda O; Ferreira-Paim, Kennio; Richinho, Túlio T; Nunes, Poliana L; Nascentes, Gabriel A N; Ferreira, Thatiana B; Correia, Dalmo; Lages-Silva, Eliane

    2013-01-01

    Entamoeba gingivalis is considered an oral commensal but demonstrates a pathogenic potential associated with periodontal disease in immunocompromised individuals. Therefore, this study evaluated the occurrence, opportunistic conditions, and intraspecific genetic variability of E. gingivalis in HIV(+)/AIDS patients. Entamoeba gingivalis was studied using fresh examination (FE), culture, and PCR from bacterial plaque samples collected from 82 HIV(+)/AIDS patients. Genetic characterization of the lower ribosomal subunit of region 18S (18S-SSU rRNA) was conducted in 9 positive samples using low-stringency single specific primer PCR (LSSP-PCR) and sequencing analysis. Entamoeba gingivalis was detected in 63.4% (52/82) of the samples. No association was detected between the presence of E. gingivalis and the CD4(+) lymphocyte count (≤200 cells/mm(3) (p = 0.912) or viral load (p = 0.429). The LSSP-PCR results helped group E. gingivalis populations into 2 polymorphic groups (68.3% similarity): group I, associated with 63.6% (7/11) of the samples, and group II, associated with 36.4% (4/11) of the samples, which shared 74% and 83.7% similarity and association with C and E isolates from HIV(-) individuals, respectively. Sequencing of 4 samples demonstrated 99% identity with the reference strain ATCC 30927 and also showed 2 divergent clusters, similar to those detected by LSSP-PCR. Opportunistic behavior of E. gingivalis was not detected, which may be related to the use of highly active antiretroviral therapy by all HIV(+)/AIDS patients. The high occurrence of E. gingivalis in these patients can be influenced by multifactorial components not directly related to the CD4(+) lymphocyte counts, such as cholesterol and the oral microbiota host, which could mask the potential opportunistic ability of E. gingivalis. The identification of the 18S SSU-rRNA polymorphism by LSSP-PCR and sequencing analysis provides the first evidence of genetic variability in E. gingivalis

  19. Population genetics of Agave cocui: evidence for low genetic diversity at the southern geographic limit of genus Agave.

    Science.gov (United States)

    Figueredo, Carmen J; Nassar, Jafet M

    2011-01-01

    The Agave genus embraces many species with outstanding ecological and economic importance in the arid regions of the Americas. Even though this genus covers a broad geographic distribution, our knowledge on the population genetics of species is concentrated in taxa located in North America. Recently, it has been demonstrated that plant domestication decreases levels of genetic diversity in managed populations and increases population structure with respect to wild populations. We examined levels of allozyme diversity (N = 17 loci) and population structure of Agave cocui, the species at the southern limit of distribution of the genus. We sampled 7 wild populations (N = 30-35 individuals per population) representative of the geographic distribution of the species in Venezuela. Among the agaves studied, A. cocui has some of the lowest estimates of genetic diversity (H(e)[species] = 0.059, H(e)[population] = 0.054) reported until present. We propose that this condition is probably linked to the recent origin of this species in arid and semiarid regions of Colombia and Venezuela, probably through one or a few founder events. The lowest estimates of genetic diversity were associated with small populations in very restricted arid patches; but also with overexploitation of rosettes for production of fermented drinks and fibers. Santa Cruz de Pecaya, one of the 2 centers of economic use of agaves in northwestern Venezuela presented one of the lowest values of genetic variability, a sign suggesting that human impact represents a significant threat to the available genetic pool that this species possesses in the region.

  20. Evidence supporting the use of recombinant activated factor VII in congenital bleeding disorders

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    Pär I Johansson

    2010-06-01

    Full Text Available Pär I Johansson, Sisse R OstrowskiCapital Region Blood Bank, Section for Transfusion Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, DenmarkBackground: Recombinant activated factor VII (rFVIIa, NovoSeven® was introduced in 1996 for the treatment of hemophilic patients with antibodies against coagulation factor VIII or IX.Objective: To review the evidence supporting the use of rFVIIa for the treatment of patients with congenital bleeding disorders.Patients and methods: English-language databases were searched in September 2009 for reports of randomized controlled trials (RCTs evaluating the ability of rFVIIa to restore hemostasis in patients with congenital bleeding disorders.Results: Eight RCTs involving 256 hemophilic patients with antibodies against coagulation factors, also known as inhibitors, were identified. The evidence supporting the use of rFVIIa in these patients was weak with regard to dose, clinical setting, mode of administration, efficacy, and adverse events, given the limited sample size of each RCT and the heterogeneity of the studies.Conclusion: The authors suggest that rFVIIa therapy in hemophilic patients with inhibitors should be based on the individual’s ability to generate thrombin and form a clot, and not on the patient’s weight alone. Therefore, assays for thrombin generation, such as whole-blood thromboelastography, have the potential to significantly improve the treatment of these patients.Keywords: hemophilia, inhibitors, coagulation factor VIII, coagulation factor IX, rFVIIa, NovoSeven, FEIBA, hemostasis, RCT

  1. Genetic link between Asians and native Americans: evidence from HLA genes and haplotypes.

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    Tokunaga, K; Ohashi, J; Bannai, M; Juji, T

    2001-09-01

    We have been studying polymorphisms of HLA class I and II genes in East Asians including Buryat in Siberia, Mongolian, Han Chinese, Man Chinese, Korean Chinese, South Korean, and Taiwan indigenous populations in collaboration with many Asian scientists. Regional populations in Japan, Hondo-Japanese, Ryukyuan, and Ainu, were also studied. HLA-A, -B, and -DRB1 gene frequencies were subjected to the correspondence analysis and calculation of DA distances. The correspondence analysis demonstrated several major clusters of human populations in the world. "Mongoloid" populations were highly diversified, in which several clusters such as Northeast Asians, Southeast Asians, Oceanians, and Native Americans were observed. Interestingly, an indigenous population in North Japan, Ainu, was placed relatively close to Native Americans in the correspondence analysis. Distribution of particular HLA-A, -B, -DRB1 alleles and haplotypes was also analyzed in relation to migration and dispersal routes of ancestral populations. A number of alleles and haplotypes showed characteristic patterns of regional distribution. For example, B39-HR5-DQ7 (B*3901-DRB1*1406-DQB1*0301) was shared by Ainu and Native Americans. A24-Cw8-B48 was commonly observed in Taiwan indigenous populations, Maori in New Zealand, Orochon in Northeast China, Inuit, and Tlingit. These findings further support the genetic link between East Asians and Native Americans. We have proposed that various ancestral populations in East Asia, marked by different HLA haplotypes, had migrated and dispersed through multiple routes. Moreover, relatively small genetic distances and the sharing of several HLA haplotypes between Ainu and Native Americans suggest that these populations are descendants of some Upper Paleolithic populations of East Asia.

  2. Extracting physician group intelligence from electronic health records to support evidence based medicine.

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    Griffin M Weber

    Full Text Available Evidence-based medicine employs expert opinion and clinical data to inform clinical decision making. The objective of this study is to determine whether it is possible to complement these sources of evidence with information about physician "group intelligence" that exists in electronic health records. Specifically, we measured laboratory test "repeat intervals", defined as the amount of time it takes for a physician to repeat a test that was previously ordered for the same patient. Our assumption is that while the result of a test is a direct measure of one marker of a patient's health, the physician's decision to order the test is based on multiple factors including past experience, available treatment options, and information about the patient that might not be coded in the electronic health record. By examining repeat intervals in aggregate over large numbers of patients, we show that it is possible to 1 determine what laboratory test results physicians consider "normal", 2 identify subpopulations of patients that deviate from the norm, and 3 identify situations where laboratory tests are over-ordered. We used laboratory tests as just one example of how physician group intelligence can be used to support evidence based medicine in a way that is automated and continually updated.

  3. Building an evidence-based multitiered system of supports for high-risk youth and communities.

    Science.gov (United States)

    Kingston, Beverly E; Mihalic, Sharon F; Sigel, Eric J

    2016-03-01

    The mental, emotional and behavioral health problems of high-risk youth and youth living in high-risk communities are not inevitable and can be prevented. A shift from the nation's focus on treating disease and illness after it occurs to a concentrated effort on preventing the root causes of these problems is needed. Prevention science suggests a comprehensive multitiered approach that provides evidence-based prevention supports for children and youth at each developmental stage and across multiple social contexts is likely to result in the greatest health impact and return on investment. However, actually implementing this approach at a neighborhood level has remained a challenge and an ongoing research gap especially in high-risk communities. This article describes a process and provides a case study example for implementing a comprehensive, multitiered approach in a high-risk community. This includes assessing and prioritizing the specific needs of individuals and communities; selecting evidence-based programs based upon assessed needs; and creating a continuum of programs to improve the health and well-being of youth across developmental age spans, social contexts, and levels of risk. Operational details and challenges for organizing and implementing this comprehensive approach are also described. We estimate that the collective impact of a multitiered evidence-based approach, implemented with fidelity, could conservatively result in a 30 to 40% reduction in problem behaviors. (PsycINFO Database Record

  4. Does evidence support physiotherapy management of adult Complex Regional Pain Syndrome Type One? A systematic review.

    Science.gov (United States)

    Daly, Anne E; Bialocerkowski, Andrea E

    2009-04-01

    To source and critically evaluate the evidence on the effectiveness of Physiotherapy to manage adult CRPS-1. Systematic literature review. Electronic databases, conference proceedings, clinical guidelines and text books were searched for quantitative studies on CRPS-1 in adults where Physiotherapy was a sole or significant component of the intervention. Data were extracted according to predefined criteria by two independent reviewers. Methodological quality was assessed using the Critical Review Form. The search strategy identified 1320 potential articles. Of these, 14 articles, representing 11 studies, met inclusion criteria. There were five randomised controlled trials, one comparative study and five case series. Methodological quality was dependent on study type, with randomised controlled trials being higher in quality. Physiotherapy treatments varied between studies and were often provided in combination with medical management. This did not allow for the 'stand-alone' value of Physiotherapy to be determined. Heterogeneity across the studies, with respect to participants, interventions evaluated and outcome measures used, prevented meta-analysis. Narrative synthesis of the results, based on effect size, found there was good to very good quality level II evidence that graded motor imagery is effective in reducing pain in adults with CRPS-1, irrespective of the outcome measure used. No evidence was found to support treatments frequently recommended in clinical guidelines, such as stress loading. Graded motor imagery should be used to reduce pain in adult CRPS-1 patients. Further, the results of this review should be used to update CRPS-1 clinical guidelines.

  5. Improving Computational Efficiency of Model Predictive Control Genetic Algorithms for Real-Time Decision Support

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    Minsker, B. S.; Zimmer, A. L.; Ostfeld, A.; Schmidt, A.

    2014-12-01

    Enabling real-time decision support, particularly under conditions of uncertainty, requires computationally efficient algorithms that can rapidly generate recommendations. In this paper, a suite of model predictive control (MPC) genetic algorithms are developed and tested offline to explore their value for reducing CSOs during real-time use in a deep-tunnel sewer system. MPC approaches include the micro-GA, the probability-based compact GA, and domain-specific GA methods that reduce the number of decision variable values analyzed within the sewer hydraulic model, thus reducing algorithm search space. Minimum fitness and constraint values achieved by all GA approaches, as well as computational times required to reach the minimum values, are compared to large population sizes with long convergence times. Optimization results for a subset of the Chicago combined sewer system indicate that genetic algorithm variations with coarse decision variable representation, eventually transitioning to the entire range of decision variable values, are most efficient at addressing the CSO control problem. Although diversity-enhancing micro-GAs evaluate a larger search space and exhibit shorter convergence times, these representations do not reach minimum fitness and constraint values. The domain-specific GAs prove to be the most efficient and are used to test CSO sensitivity to energy costs, CSO penalties, and pressurization constraint values. The results show that CSO volumes are highly dependent on the tunnel pressurization constraint, with reductions of 13% to 77% possible with less conservative operational strategies. Because current management practices may not account for varying costs at CSO locations and electricity rate changes in the summer and winter, the sensitivity of the results is evaluated for variable seasonal and diurnal CSO penalty costs and electricity-related system maintenance costs, as well as different sluice gate constraint levels. These findings indicate

  6. Investigating the role of content knowledge, argumentation, and situational features to support genetics literacy

    Science.gov (United States)

    Shea, Nicole Anne

    Science curriculum is often used as a means to train students as future scientists with less emphasis placed on preparing students to reason about issues they may encounter in their daily lives (Feinstein, Allen, & Jenkins, 2013; Roth & Barton, 2004). The general public is required to think scientifically to some degree throughout their life and often across a variety of issues. From an empirical standpoint, we do not have a robust understanding of what scientific knowledge the public finds useful for reasoning about socio-scientific issues in their everyday lives (Feinstein, 2011). We also know very little about how the situational features of an issue influences reasoning strategy (i.e., the use of knowledge to generate arguments). Rapid advances in science - particularly in genetics - increasingly challenge the public to reason about socio-scientific issues. This raises questions about the public's ability to participate knowledgeably in socio-scientific debates, and to provide informed consent for a variety of novel scientific procedures. This dissertation aims to answer the questions: How do individuals use their genetic content knowledge to reason about authentic issues they may encounter in their daily lives? Individuals' scientific knowledge is a critical aspect of scientific literacy, but what scientific literacy looks like in practice as individuals use their content knowledge to reason about issues comprised of different situational features is still unclear. The purpose of this dissertation is to explore what knowledge is actually used by individuals to generate and support arguments about a variety of socio-scientific issues, and how the features of those issues influences reasoning strategy. Three studies were conducted to answer questions reflecting this purpose. Findings from this dissertation provide important insights into what scientific literacy looks like in practice.

  7. Genetic Segregation and Genomic Hybridization Patterns Support an Allotetraploid Structure and Disomic Inheritance for Salix Species

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    Gianni Barcaccia

    2014-09-01

    Full Text Available The Salix alba L. (white willow—Salix fragilis L. (crack willow complex includes closely related polyploid species, mainly tetraploid (2n = 4x = 76, which are dioecious and hence obligate allogamous. Because little is known about the genome constitution and chromosome behavior of these pure willow trees, genetic analysis of their naturally occurring interspecific polyploid hybrids is still very difficult. A two-way pseudo-testcross strategy was exploited using single-dose AFLP markers in order to assess the main inheritance patterns of tetraploid biotypes (disomy vs. tetrasomy in segregating populations stemmed from S. alba × S. fragilis crosses and reciprocals. In addition, a genomic in situ hybridization (GISH technology was implemented in willow to shed some light on the genome structure of S. alba and S. fragilis species, and their hybrids (allopolyploidy vs. autopolyploidy. The frequency of S. alba-specific molecular markers was almost double compared to that of S. fragilis-specific ones, suggesting the phylogenetic hypothesis of S. fragilis as derivative species from S. alba-like progenitors. Cytogenetic observations at pro-metaphase revealed about half of the chromosome complements being less contracted than the remaining ones, supporting an allopolyploid origin of both S. alba and S. fragilis. Both genetic segregation and genomic hybridization data are consistent with an allotetraploid nature of the Salix species. In particular, the vast majority of the AFLP markers were inherited according to disomic patterns in S. alba × S. fragilis populations and reciprocals. Moreover, in all S. alba against S. fragilis hybridizations and reciprocals, GISH signals were observed only on the contracted chromosomes whereas the non-contracted chromosomes were never hybridized. In conclusion, half of the chromosomes of the pure species S. alba and S. fragilis are closely related and they could share a common diploid ancestor, while the rest of

  8. Response to Infliximab in Crohn’s Disease: Genetic Analysis Supporting Expression Profile

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    Luz María Medrano

    2015-01-01

    Full Text Available Substantial proportion of Crohn’s disease (CD patients shows no response or a limited response to treatment with infliximab (IFX and to identify biomarkers of response would be of great clinical and economic benefit. The expression profile of five genes (S100A8-S100A9, G0S2, TNFAIP6, and IL11 reportedly predicted response to IFX and we aimed at investigating their etiologic role through genetic association analysis. Patients with active CD (350 who received at least three induction doses of IFX were included and classified according to IFX response. A tagging strategy was used to select genetic polymorphisms that cover the variability present in the chromosomal regions encoding the identified genes with altered expression. Following genotyping, differences between responders and nonresponders to IFX were observed in haplotypes of the studied regions: S100A8-S100A9 (rs11205276*G/rs3014866*C/rs724781*C/rs3006488*A; P=0.05; G0S2 (rs4844486*A/rs1473683*T; P=0.15; TNFAIP6 (rs11677200*C/rs2342910*A/rs3755480*G/rs10432475*A; P=0.10; and IL11 (rs1126760*C/rs1042506*G; P=0.07. These differences were amplified in patients with colonic and ileocolonic location for all but the TNFAIP6 haplotype, which evidenced significant difference in ileal CD patients. Our results support the role of the reported expression signature as predictive of anti-TNF outcome in CD patients and suggest an etiological role of those top-five genes in the IFX response pathway.

  9. Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling.

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    Laura E Yee

    2015-11-01

    Full Text Available Mutations in genes encoding cilia proteins cause human ciliopathies, diverse disorders affecting many tissues. Individual genes can be linked to ciliopathies with dramatically different phenotypes, suggesting that genetic modifiers may participate in their pathogenesis. The ciliary transition zone contains two protein complexes affected in the ciliopathies Meckel syndrome (MKS and nephronophthisis (NPHP. The BBSome is a third protein complex, affected in the ciliopathy Bardet-Biedl syndrome (BBS. We tested whether mutations in MKS, NPHP and BBS complex genes modify the phenotypic consequences of one another in both C. elegans and mice. To this end, we identified TCTN-1, the C. elegans ortholog of vertebrate MKS complex components called Tectonics, as an evolutionarily conserved transition zone protein. Neither disruption of TCTN-1 alone or together with MKS complex components abrogated ciliary structure in C. elegans. In contrast, disruption of TCTN-1 together with either of two NPHP complex components, NPHP-1 or NPHP-4, compromised ciliary structure. Similarly, disruption of an NPHP complex component and the BBS complex component BBS-5 individually did not compromise ciliary structure, but together did. As in nematodes, disrupting two components of the mouse MKS complex did not cause additive phenotypes compared to single mutants. However, disrupting both Tctn1 and either Nphp1 or Nphp4 exacerbated defects in ciliogenesis and cilia-associated developmental signaling, as did disrupting both Tctn1 and the BBSome component Bbs1. Thus, we demonstrate that ciliary complexes act in parallel to support ciliary function and suggest that human ciliopathy phenotypes are altered by genetic interactions between different ciliary biochemical complexes.

  10. JRC GMO-Matrix: a web application to support Genetically Modified Organisms detection strategies.

    Science.gov (United States)

    Angers-Loustau, Alexandre; Petrillo, Mauro; Bonfini, Laura; Gatto, Francesco; Rosa, Sabrina; Patak, Alexandre; Kreysa, Joachim

    2014-12-30

    The polymerase chain reaction (PCR) is the current state of the art technique for DNA-based detection of Genetically Modified Organisms (GMOs). A typical control strategy starts by analyzing a sample for the presence of target sequences (GM-elements) known to be present in many GMOs. Positive findings from this "screening" are then confirmed with GM (event) specific test methods. A reliable knowledge of which GMOs are detected by combinations of GM-detection methods is thus crucial to minimize the verification efforts. In this article, we describe a novel platform that links the information of two unique databases built and maintained by the European Union Reference Laboratory for Genetically Modified Food and Feed (EU-RL GMFF) at the Joint Research Centre (JRC) of the European Commission, one containing the sequence information of known GM-events and the other validated PCR-based detection and identification methods. The new platform compiles in silico determinations of the detection of a wide range of GMOs by the available detection methods using existing scripts that simulate PCR amplification and, when present, probe binding. The correctness of the information has been verified by comparing the in silico conclusions to experimental results for a subset of forty-nine GM events and six methods. The JRC GMO-Matrix is unique for its reliance on DNA sequence data and its flexibility in integrating novel GMOs and new detection methods. Users can mine the database using a set of web interfaces that thus provide a valuable support to GMO control laboratories in planning and evaluating their GMO screening strategies. The platform is accessible at http://gmo-crl.jrc.ec.europa.eu/jrcgmomatrix/ .

  11. Current evidence does not support the use of Kinesio Taping in clinical practice: a systematic review

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    Patrícia do Carmo Silva Parreira

    2014-03-01

    Full Text Available Questions: Is Kinesio Taping more effective than a sham taping/placebo, no treatment or other interventions in people with musculoskeletal conditions? Is the addition of Kinesio Taping to other interventions more effective than other interventions alone in people with musculoskeletal conditions? Design: Systematic review of randomised trials. Participants: People with musculoskeletal conditions. Intervention: Kinesio Taping was compared with sham taping/placebo, no treatment, exercises, manual therapy and conventional physiotherapy. Outcome measures: Pain intensity, disability, quality of life, return to work, and global impression of recovery. Results: Twelve randomised trials involving 495 participants were included in the review. The effectiveness of the Kinesio Taping was tested in participants with: shoulder pain in two trials; knee pain in three trials; chronic low back pain in two trials; neck pain in three trials; plantar fasciitis in one trial; and multiple musculoskeletal conditions in one trial. The methodological quality of eligible trials was moderate, with a mean of 6.1 points on the 10-point PEDro Scale score. Overall, Kinesio Taping was no better than sham taping/placebo and active comparison groups. In all comparisons where Kinesio Taping was better than an active or a sham control group, the effect sizes were small and probably not clinically significant or the trials were of low quality. Conclusion: This review provides the most updated evidence on the effectiveness of the Kinesio Taping for musculoskeletal conditions. The current evidence does not support the use of this intervention in these clinical populations. PROSPERO registration: CRD42012003436. [Parreira PdCS, Costa LdCM, Hespanhol Junior LC, Lopes AD, Costa LOP (2014 Current evidence does not support the use of Kinesio Taping in clinical practice: a systematic review. Journal of Physiotherapy 60: 31–39

  12. The distribution of Elongation Factor-1 Alpha (EF-1alpha), Elongation Factor-Like (EFL), and a non-canonical genetic code in the ulvophyceae: discrete genetic characters support a consistent phylogenetic framework.

    Science.gov (United States)

    Gile, Gillian H; Novis, Philip M; Cragg, David S; Zuccarello, Giuseppe C; Keeling, Patrick J

    2009-01-01

    The systematics of the green algal class Ulvophyceae have been difficult to resolve with ultrastructural and molecular phylogenetic analyses. Therefore, we investigated relationships among ulvophycean orders by determining the distribution of two discrete genetic characters previously identified only in the order Dasycladales. First, Acetabularia acetabulum uses the core translation GTPase Elongation Factor 1alpha (EF-1alpha) while most Chlorophyta instead possess the related GTPase Elongation Factor-Like (EFL). Second, the nuclear genomes of dasycladaleans A. acetabulum and Batophora oerstedii use a rare non-canonical genetic code in which the canonical termination codons TAA and TAG instead encode glutamine. Representatives of Ulvales and Ulotrichales were found to encode EFL, while Caulerpales, Dasycladales, Siphonocladales, and Ignatius tetrasporus were found to encode EF-1alpha, in congruence with the two major lineages previously proposed for the Ulvophyceae. The EF-1alpha of I. tetrasporus supports its relationship with Caulerpales/Dasycladales/Siphonocladales, in agreement with ultrastructural evidence, but contrary to certain small subunit rRNA analyses that place it with Ulvales/Ulotrichales. The same non-canonical genetic code previously described in A. acetabulum was observed in EF-1alpha sequences from Parvocaulis pusillus (Dasycladales), Chaetomorpha coliformis, and Cladophora cf. crinalis (Siphonocladales), whereas Caulerpales use the universal code. This supports a sister relationship between Siphonocladales and Dasycladales and further refines our understanding of ulvophycean phylogeny.

  13. Evidence to support IL-13 as a risk locus for psoriatic arthritis but not psoriasis vulgaris

    Science.gov (United States)

    Bowes, John; Eyre, Steve; Flynn, Edward; Ho, Pauline; Salah, Salma; Warren, Richard B; Marzo-Ortega, Helena; Coates, Laura; McManus, Ross; Ryan, Anthony W; Kane, David; Korendowych, Eleanor; McHugh, Neil; FitzGerald, Oliver; Packham, Jonathan; Morgan, Ann W; Griffiths, Christopher E M; Bruce, Ian N; Worthington, Jane; Barton, Anne

    2011-01-01

    Objective There is great interest in the identification of genetic factors that differentiate psoriatic arthritis (PsA) from psoriasis vulgaris (PsV), as such discoveries could lead to the identification of distinct underlying aetiological pathways. Recent studies identified single nucleotide polymorphisms (SNPs) in the interleukin 13 (IL-13) gene region as risk factors for PsV. Further investigations in one of these studies found the effect to be primarily restricted to PsA, thus suggesting the discovery of a specific genetic risk factor for PsA. Given this intriguing evidence, association to this gene was investigated in large collections of PsA and PsV patients and healthy controls. Methods Two SNPs (rs20541 and rs1800925) mapping to the IL-13 gene were genotyped in 1057 PsA and 778 type I PsV patients using the Sequenom genotyping platform. Genotype frequencies were compared to those of 5575 healthy controls. Additional analyses were performed in phenotypic subgroups of PsA (type I or II PsV and in those seronegative for rheumatoid factor). Results Both SNPs were found to be highly associated with susceptibility to PsA (rs1800925 ptrend = 6.1×10−5 OR 1.33, rs20541 ptrend = 8.0×10−4 OR 1.27), but neither SNP was significantly associated with susceptibility to PsV. Conclusions This study confirms that the effect of IL-13 risk locus is specific for PsA, thus highlighting a key biological pathway that differentiates PsA from PsV. The identification of markers that differentiate the two diseases raises the possibility in future of allowing screening of PsV patients to identify those at risk of developing PsA. PMID:21349879

  14. How is research evidence used to support claims made in advertisements for wound care products?

    Science.gov (United States)

    Dumville, Jo C; Petherick, Emily S; O'Meara, Susan; Raynor, Pauline; Cullum, Nicky

    2009-05-01

    To investigate the amount, type and accuracy of citations use in support of product related claims from advertisements of wound care products. Although articles submitted to most medical journals are subjected to peer review, such scrutiny is often not required for the content of advertisements. A contents survey of advertisements from two wound care journals (Journal of Wound Care and Ostomy Wound Management) from 2002-2003 and the British Medical Journal, 2002-2003. Data collected from advertisements included identification of product related claims made and any corresponding citations. Where journal articles were cited to support claims, the articles were obtained. Where data on file were cited, this material was requested. In each case the accuracy of claims in relation to the content of the supporting citation was assessed. The use of citations to support product related claims was infrequent in advertisements from wound care journals, where 35% of advertisements containing a product related claim also contained at least one citation, compared with 63% of advertisements from the British Medical Journal. Of citations that were supplied, journal articles were less common in the wound journals (40% vs. 73% in the British Medical Journal) and data on file more common (38% vs. 6% in the British Medical Journal). Where journal articles were obtained, 56% of claims in the wound care journals advertisements were not supported by the cited article, compared with 12% of claims in the British Medical Journal. The wound journals advertised predominantly medical devices. The use and accuracy of referencing in advertisements from wound care journals was poor. Nurses have increasing responsibilities for the prescribing of both drugs and devices, which must be accompanied by the ability to interpret marketing materials and research evidence critically. Nurse educators must ensure that nurse education generally and nurse prescriber training particularly, builds skills of

  15. Life support decision making in critical care: Identifying and appraising the qualitative research evidence.

    Science.gov (United States)

    Giacomini, Mita; Cook, Deborah; DeJean, Deirdre

    2009-04-01

    The objective of this study is to identify and appraise qualitative research evidence on the experience of making life-support decisions in critical care. In six databases and supplementary sources, we sought original research published from January 1990 through June 2008 reporting qualitative empirical studies of the experience of life-support decision making in critical care settings. Fifty-three journal articles and monographs were included. Of these, 25 reported prospective studies and 28 reported retrospective studies. We abstracted methodologic characteristics relevant to the basic critical appraisal of qualitative research (prospective data collection, ethics approval, purposive sampling, iterative data collection and analysis, and any method to corroborate findings). Qualitative research traditions represented include grounded theory (n = 15, 28%), ethnography or naturalistic methods (n = 15, 28%), phenomenology (n = 9, 17%), and other or unspecified approaches (n = 14, 26%). All 53 documents describe the research setting; 97% indicate purposive sampling of participants. Studies vary in their capture of multidisciplinary clinician and family perspectives. Thirty-one (58%) report research ethics board review. Only 49% report iterative data collection and analysis, and eight documents (15%) describe an analytically driven stopping point for data collection. Thirty-two documents (60%) indicated a method for corroborating findings. Qualitative evidence often appears outside of clinical journals, with most research from the United States. Prospective, observation-based studies follow life-support decision making directly. These involve a variety of participants and yield important insights into interactions, communication, and dynamics. Retrospective, interview-based studies lack this direct engagement, but focus on the recollections of fewer types of participants (particularly patients and physicians), and typically address specific issues (communication and

  16. Hidden Diversity in Sardines: Genetic and Morphological Evidence for Cryptic Species in the Goldstripe Sardinella, Sardinella gibbosa (Bleeker, 1849)

    Science.gov (United States)

    Thomas, Rey C.; Willette, Demian A.; Carpenter, Kent E.; Santos, Mudjekeewis D.

    2014-01-01

    Cryptic species continue to be uncovered in many fish taxa, posing challenges for fisheries conservation and management. In Sardinella gibbosa, previous investigations revealed subtle intra-species variations, resulting in numerous synonyms and a controversial taxonomy for this sardine. Here, we tested for cryptic diversity within S. gibbosa using genetic data from two mitochondrial and one nuclear gene regions of 248 individuals of S. gibbosa, collected from eight locations across the Philippine archipelago. Deep genetic divergence and subsequent clustering was consistent across both mitochondrial and nuclear markers. Clade distribution is geographically limited: Clade 1 is widely distributed in the central Philippines, while Clade 2 is limited to the northernmost sampling site. In addition, morphometric analyses revealed a unique head shape that characterized each genetic clade. Hence, both genetic and morphological evidence strongly suggests a hidden diversity within this common and commercially-important sardine. PMID:24416271

  17. Hidden diversity in sardines: genetic and morphological evidence for cryptic species in the goldstripe sardinella, Sardinella gibbosa (Bleeker, 1849.

    Directory of Open Access Journals (Sweden)

    Rey C Thomas

    Full Text Available Cryptic species continue to be uncovered in many fish taxa, posing challenges for fisheries conservation and management. In Sardinella gibbosa, previous investigations revealed subtle intra-species variations, resulting in numerous synonyms and a controversial taxonomy for this sardine. Here, we tested for cryptic diversity within S. gibbosa using genetic data from two mitochondrial and one nuclear gene regions of 248 individuals of S. gibbosa, collected from eight locations across the Philippine archipelago. Deep genetic divergence and subsequent clustering was consistent across both mitochondrial and nuclear markers. Clade distribution is geographically limited: Clade 1 is widely distributed in the central Philippines, while Clade 2 is limited to the northernmost sampling site. In addition, morphometric analyses revealed a unique head shape that characterized each genetic clade. Hence, both genetic and morphological evidence strongly suggests a hidden diversity within this common and commercially-important sardine.

  18. The genetic impact of Aztec imperialism: ancient mitochondrial DNA evidence from Xaltocan, Mexico.

    Science.gov (United States)

    Mata-Míguez, Jaime; Overholtzer, Lisa; Rodríguez-Alegría, Enrique; Kemp, Brian M; Bolnick, Deborah A

    2012-12-01

    In AD 1428, the city-states of Tenochtitlan, Texcoco, and Tlacopan formed the Triple Alliance, laying the foundations of the Aztec empire. Although it is well documented that the Aztecs annexed numerous polities in the Basin of Mexico over the following years, the demographic consequences of this expansion remain unclear. At the city-state capital of Xaltocan, 16th century documents suggest that the site's conquest and subsequent incorporation into the Aztec empire led to a replacement of the original Otomí population, whereas archaeological evidence suggests that some of the original population may have remained at the town under Aztec rule. To help address questions about Xaltocan's demographic history during this period, we analyzed ancient DNA from 25 individuals recovered from three houses rebuilt over time and occupied between AD 1240 and 1521. These individuals were divided into two temporal groups that predate and postdate the site's conquest. We determined the mitochondrial DNA haplogroup of each individual and identified haplotypes based on 372 base pair sequences of first hypervariable region. Our results indicate that the residents of these houses before and after the Aztec conquest have distinct haplotypes that are not closely related, and the mitochondrial compositions of the temporal groups are statistically different. Altogether, these results suggest that the matrilines present in the households were replaced following the Aztec conquest. This study therefore indicates that the Aztec expansion may have been associated with significant demographic and genetic changes within Xaltocan.

  19. Genetic evidence for a mitochondriate ancestry in the 'amitochondriate' flagellate Trimastix pyriformis.

    Directory of Open Access Journals (Sweden)

    Vladimir Hampl

    Full Text Available Most modern eukaryotes diverged from a common ancestor that contained the alpha-proteobacterial endosymbiont that gave rise to mitochondria. The 'amitochondriate' anaerobic protist parasites that have been studied to date, such as Giardia and Trichomonas harbor mitochondrion-related organelles, such as mitosomes or hydrogenosomes. Yet there is one remaining group of mitochondrion-lacking flagellates known as the Preaxostyla that could represent a primitive 'pre-mitochondrial' lineage of eukaryotes. To test this hypothesis, we conducted an expressed sequence tag (EST survey on the preaxostylid flagellate Trimastix pyriformis, a poorly-studied free-living anaerobe. Among the ESTs we detected 19 proteins that, in other eukaryotes, typically function in mitochondria, hydrogenosomes or mitosomes, 12 of which are found exclusively within these organelles. Interestingly, one of the proteins, aconitase, functions in the tricarboxylic acid cycle typical of aerobic mitochondria, whereas others, such as pyruvate:ferredoxin oxidoreductase and [FeFe] hydrogenase, are characteristic of anaerobic hydrogenosomes. Since Trimastix retains genetic evidence of a mitochondriate ancestry, we can now say definitively that all known living eukaryote lineages descend from a common ancestor that had mitochondria.

  20. Striatal dopamine mediates the interface between motivational and cognitive control in humans: evidence from genetic imaging.

    Science.gov (United States)

    Aarts, Esther; Roelofs, Ardi; Franke, Barbara; Rijpkema, Mark; Fernández, Guillén; Helmich, Rick C; Cools, Roshan

    2010-08-01

    Dopamine has been hypothesized to provide the basis for the interaction between motivational and cognitive control. However, there is no evidence for this hypothesis in humans. We fill this gap by using fMRI, a novel behavioral paradigm and a common polymorphism in the DAT1 gene (SLC6A3). Carriers of the 9-repeat (9R) allele of a 40 base pair repeat polymorphism in the 3' untranslated region of DAT1, associated with high striatal dopamine, showed greater activity in the ventromedial striatum during reward anticipation than homozygotes for the 10-repeat allele, replicating previous genetic imaging studies. The crucial novel finding is that 9R carriers also exhibited a greater influence of anticipated reward on switch costs, as well as greater activity in the dorsomedial striatum during task switching in anticipation of high reward relative to low reward. These data establish a crucial role for human striatal dopamine in the modulation of cognitive flexibility by reward anticipation, thus, elucidating the neurochemical mechanism of the interaction between motivation and cognitive control.

  1. Biochemical and Genetic Evidence for a SAP-PKC-θ Interaction Contributing to IL-4 Regulation

    Science.gov (United States)

    Cannons, Jennifer L.; Wu, Julie Z.; Gomez-Rodriguez, Julio; Zhang, Jinyi; Dong, Baoxia; Liu, Yin; Shaw, Stephen; Siminovitch, Katherine A.; Schwartzberg, Pamela L.

    2012-01-01

    SAP, an adaptor molecule that recruits Fyn to the SLAM-family of immunomodulatory receptors, is mutated in X-linked lymphoproliferative disease. CD4+ T cells from SAP-deficient mice have defective TCR-induced IL-4 production and impaired T cell-mediated help for germinal center formation; however, the downstream intermediates contributing to these defects remain unclear. We previously found that SAP-deficient CD4+ T cells exhibit decreased PKC-θ recruitment upon TCR stimulation. We demonstrate here using GST-pulldowns and co-immunoprecipitation studies that SAP constitutively associates with PKC-θ in T cells. SAP-PKC-θ interactions required R78 of SAP, a residue previously implicated in Fyn recruitment, yet SAP’s interactions with PKC-θ occurred independent of phosphotyrosine binding and Fyn. Overexpression of SAP in T cells increased and sustained PKC-θ recruitment to the immune synapse and elevated IL-4 production in response to TCR plus SLAM-mediated stimulation. Moreover, PKC-θ, like SAP, was required for SLAM-mediated increases in IL-4 production and conversely, membrane-targeted PKC-θ mutants rescued IL-4 expression in SAP−/− CD4+ T cells, providing genetic evidence that PKC-θ is a critical component of SLAM/SAP-mediated pathways that influence TCR-driven IL-4 production. PMID:20668219

  2. Supporting Children with Genetic Syndromes in the Classroom: The Example of 22q Deletion Syndrome

    Science.gov (United States)

    Reilly, Colin; Stedman, Lindsey

    2013-01-01

    An increasing number of children are likely to have a known genetic cause for their special educational needs. One such genetic condition is 22q11.2 deletion syndrome (22qDS), a genetic syndrome associated with early speech and language difficulties, global and specific cognitive impairments, difficulties with attention and difficulties with…

  3. Supporting Children with Genetic Syndromes in the Classroom: The Example of 22q Deletion Syndrome

    Science.gov (United States)

    Reilly, Colin; Stedman, Lindsey

    2013-01-01

    An increasing number of children are likely to have a known genetic cause for their special educational needs. One such genetic condition is 22q11.2 deletion syndrome (22qDS), a genetic syndrome associated with early speech and language difficulties, global and specific cognitive impairments, difficulties with attention and difficulties with…

  4. Evidence supporting the use of cone-beam computed tomography in orthodontics.

    Science.gov (United States)

    van Vlijmen, Olivier J C; Kuijpers, Mette A R; Bergé, Stefaan J; Schols, Jan G J H; Maal, Thomas J J; Breuning, Hero; Kuijpers-Jagtman, Anne Marie

    2012-03-01

    The authors conducted a systematic review of cone-beam computed tomography (CBCT) applications in orthodontics and evaluated the level of evidence to determine whether the use of CBCT is justified in orthodontics. The authors identified articles by searching the Cochrane Library, PubMed, MEDLINE, Embase, Scopus and Cumulative Index to Nursing and Allied Health Literature databases. They searched the articles' reference lists manually for additional articles and had no language limitations. They did not search the gray literature. Inclusion criteria were CBCT use in orthodontics and that the participants be human. The lowest level of evidence accepted for inclusion was a case series with five or more participants. The authors evaluated the studies' methodological quality according to 13 criteria related to study design, measurements and statistical analysis. The authors identified 550 articles, and 50 met the inclusion criteria. Study topics included temporary anchorage devices, cephalometry, combined orthodontic and surgical treatment, airway measurements, root resorption and tooth impactions, and cleft lip and palate. The methodological quality averaged 53 percent (range, 15-77 percent) of the maximum score. The authors found no high-quality evidence regarding the benefits of CBCT use in orthodontics. Limited evidence shows that CBCT offers better diagnostic potential, leads to better treatment planning or results in better treatment outcome than do conventional imaging modalities. Only the results of studies on airway diagnostics provided sound scientific data suggesting that CBCT use has added value. The additional radiation exposure should be weighed against possible benefits of CBCT, which have not been supported in the literature. In future studies, investigators should evaluate the effects of CBCT on treatment procedures, progression and outcome quantitatively.

  5. Sustained Implementation of Evidence-based Programs in Disadvantaged Communities: A Conceptual Framework of Supporting Factors.

    Science.gov (United States)

    Hodge, Lauren M; Turner, Karen M T

    2016-09-01

    This paper presents a review of the empirical literature for studies evaluating factors that facilitate and create barriers to sustained program implementation in disadvantaged communities. It outlines study methodology and sustainment outcomes and proposes a conceptual model that involves implementation sustainment support for providers delivering evidence-based health and family services in disadvantaged communities. Sustained program implementation in the community setting is a significant issue as only 43% of studies reported successfully sustained programs. The review identified 18 factors that facilitate success and create barriers to program sustainment. The factors are synthesized into three themes; program characteristics, workplace capacity, and process and interaction factors. The majority of factors map onto commonly cited sustainability influences in implementation science. However, there was an additional focus for studies included in this review on the importance of factors such as program burden, program familiarity and perceived competence in program skills, workplace support for the program, staff mobility and turnover, supervision and peer support, and ongoing technical assistance. The need to use a conceptual framework and develop measures to guide and evaluate capacity building in EBP implementation and sustainment in low-resource community settings is highlighted.

  6. The Evidence Information Service as a New Platform for Supporting Evidence-Based Policy: A Consultation of UK Parliamentarians

    Science.gov (United States)

    Lawrence, Natalia S.; Chambers, Jemma C.; Morrison, Sinead M.; Bestmann, Sven; O'Grady, Gerard; Chambers, Christopher D.; Kythreotis, Andrew

    2017-01-01

    The value of evidence-based policy is well established, yet major hurdles remain in connecting policymakers with the wider research community. Here we assess whether a UK Evidence Information Service (EIS) could facilitate interaction between parliamentarians and research professionals. Fifty-six UK parliamentarians were interviewed to gauge the…

  7. Biomedical visual data analysis to build an intelligent diagnostic decision support system in medical genetics.

    Science.gov (United States)

    Kuru, Kaya; Niranjan, Mahesan; Tunca, Yusuf; Osvank, Erhan; Azim, Tayyaba

    2014-10-01

    In general, medical geneticists aim to pre-diagnose underlying syndromes based on facial features before performing cytological or molecular analyses where a genotype-phenotype interrelation is possible. However, determining correct genotype-phenotype interrelationships among many syndromes is tedious and labor-intensive, especially for extremely rare syndromes. Thus, a computer-aided system for pre-diagnosis can facilitate effective and efficient decision support, particularly when few similar cases are available, or in remote rural districts where diagnostic knowledge of syndromes is not readily available. The proposed methodology, visual diagnostic decision support system (visual diagnostic DSS), employs machine learning (ML) algorithms and digital image processing techniques in a hybrid approach for automated diagnosis in medical genetics. This approach uses facial features in reference images of disorders to identify visual genotype-phenotype interrelationships. Our statistical method describes facial image data as principal component features and diagnoses syndromes using these features. The proposed system was trained using a real dataset of previously published face images of subjects with syndromes, which provided accurate diagnostic information. The method was tested using a leave-one-out cross-validation scheme with 15 different syndromes, each of comprised 5-9 cases, i.e., 92 cases in total. An accuracy rate of 83% was achieved using this automated diagnosis technique, which was statistically significant (pdiagnostic DSSs to that described in the present study, i.e., visual diagnostic DSS, thereby demonstrating the benefits of using hybrid image processing and ML-based computer-aided diagnostics for identifying facial phenotypes. Copyright © 2014. Published by Elsevier B.V.

  8. The genetics of colored sequence synesthesia: Suggestive evidence of linkage to 16q and genetic heterogeneity for the condition

    Science.gov (United States)

    Tomson, Steffie N.; Avidan, Nili; Lee, Kwanghyuk; Sarma, Anand K.; Tushe, Rejnal; Milewicz, Dianna M.; Bray, Molly; Leal, Suzanne M.; Eagleman, David M.

    2014-01-01

    Synesthesia is a perceptual condition in which sensory stimulation triggers anomalous sensory experiences. In colored sequence synesthesia (CSS), color experiences are triggered by sequences such as letters or numbers. We performed a family based linkage analysis to identify genetic loci responsible for the increased neural crosstalk underlying CSS. Our results implicate a 23 MB region at 16q12.2-23.1, providing the first step in understanding the molecular basis of CSS. PMID:21504763

  9. Understanding the Cognitive and Genetic Underpinnings of Procrastination: Evidence for Shared Genetic Influences with Goal Management and Executive Function Abilities

    OpenAIRE

    Daniel E Gustavson; Miyake, Akira; Hewitt, John K.; Friedman, Naomi P.

    2015-01-01

    Previous research has suggested that individual differences in procrastination are tied to everyday goal-management abilities, but little research has been conducted on specific cognitive abilities that may underlie tendencies for procrastination, such as executive functions (EFs). In this study, we used behavioral genetics methodology to investigate two hypotheses about the relationships between procrastination and EF ability: (a) that procrastination is negatively correlated with general EF...

  10. Genetic evidence confirms polygamous mating system in a crustacean parasite with multiple hosts.

    Directory of Open Access Journals (Sweden)

    Quentin Jossart

    Full Text Available Mating systems are diverse in animals, notably in crustaceans, but can be inferred from a limited set of parameters. Baeza and Thiel (2007 proposed a model predicting mating systems of symbiotic crustaceans with three host characteristics and the risk of predation. These authors proposed five mating systems, ranging from monogamy to polygynandry (where multiple mating occurs for both genders. Using microsatellite loci, we tested the putatively mating system of the ectoparasite crab Dissodactylus primitivus. We determined the mating frequencies of males and females, parentage assignment (COLONY & GERUD software as well as the contents of female spermathecae. Our results are globally consistent with the model of Baeza and Thiel and showed, together with previous aquarium experiments, that this ectoparasite evolved a polygamous mating system where males and females move between hosts for mate search. Parentage analyses revealed that polyandry is frequent and concerns more than 60% of clutches, with clutches being fertilized by up to 6 different fathers. Polygyny is supported by the detection of eight males having sired two different broods. We also detected a significant paternity skew in 92% of the multipaternal broods. Moreover, this skew is probably higher than the estimation from the brood because additional alleles were detected in most of spermathecae. This high skew could be explained by several factors as sperm competition or cryptic female choice. Our genetic data, combined with previous anatomic analyses, provide consistent arguments to suggest sperm precedence in D. primitivus.

  11. Genetic evidence confirms polygamous mating system in a crustacean parasite with multiple hosts.

    Science.gov (United States)

    Jossart, Quentin; Wattier, Rémi A; Kastally, Chedly; Aron, Serge; David, Bruno; De Ridder, Chantal; Rigaud, Thierry

    2014-01-01

    Mating systems are diverse in animals, notably in crustaceans, but can be inferred from a limited set of parameters. Baeza and Thiel (2007) proposed a model predicting mating systems of symbiotic crustaceans with three host characteristics and the risk of predation. These authors proposed five mating systems, ranging from monogamy to polygynandry (where multiple mating occurs for both genders). Using microsatellite loci, we tested the putatively mating system of the ectoparasite crab Dissodactylus primitivus. We determined the mating frequencies of males and females, parentage assignment (COLONY & GERUD software) as well as the contents of female spermathecae. Our results are globally consistent with the model of Baeza and Thiel and showed, together with previous aquarium experiments, that this ectoparasite evolved a polygamous mating system where males and females move between hosts for mate search. Parentage analyses revealed that polyandry is frequent and concerns more than 60% of clutches, with clutches being fertilized by up to 6 different fathers. Polygyny is supported by the detection of eight males having sired two different broods. We also detected a significant paternity skew in 92% of the multipaternal broods. Moreover, this skew is probably higher than the estimation from the brood because additional alleles were detected in most of spermathecae. This high skew could be explained by several factors as sperm competition or cryptic female choice. Our genetic data, combined with previous anatomic analyses, provide consistent arguments to suggest sperm precedence in D. primitivus.

  12. Genetic evidence for conserved non-coding element function across species--the ears have it

    Directory of Open Access Journals (Sweden)

    Eric E Turner

    2014-01-01

    Full Text Available Comparison of genomic sequences from diverse vertebrate species has revealed numerous highly conserved regions that do not appear to encode proteins or functional RNAs. Often these conserved non-coding elements, or CNEs, direct gene expression to specific tissues in transgenic models, demonstrating they have regulatory function. CNEs are frequently found near ‘developmental’ genes, particularly transcription factors, implying that these elements have essential regulatory roles in development. However, actual examples demonstrating CNE regulatory functions across species have been few, and recent loss-of-function studies of several CNEs in mice have shown relatively minor effects. In this Perspectives article, we discuss new findings in fancy rats and Highland cattle demonstrating that function of a CNE near the Hmx1 gene is crucial for normal external ear development and resembles loss-of function Hmx1 coding mutations in mice and humans. These findings provide important support for similar developmental roles of CNEs in divergent species, and reinforce the concept that CNEs should be examined systematically in the ongoing search for genetic causes of human developmental disorders in the era of genome-scale sequencing.

  13. Mitogenomic phylogenetics of fin whales (Balaenoptera physalus spp.: genetic evidence for revision of subspecies.

    Directory of Open Access Journals (Sweden)

    Frederick I Archer

    Full Text Available There are three described subspecies of fin whales (Balaenoptera physalus: B. p. physalus Linnaeus, 1758 in the Northern Hemisphere, B. p. quoyi Fischer, 1829 in the Southern Hemisphere, and a recently described pygmy form, B. p. patachonica Burmeister, 1865. The discrete distribution in the North Pacific and North Atlantic raises the question of whether a single Northern Hemisphere subspecies is valid. We assess phylogenetic patterns using ~16 K base pairs of the complete mitogenome for 154 fin whales from the North Pacific, North Atlantic--including the Mediterranean Sea--and Southern Hemisphere. A Bayesian tree of the resulting 136 haplotypes revealed several well-supported clades representing each ocean basin, with no haplotypes shared among ocean basins. The North Atlantic haplotypes (n = 12 form a sister clade to those from the Southern Hemisphere (n = 42. The estimated time to most recent common ancestor (TMRCA for this Atlantic/Southern Hemisphere clade and 81 of the 97 samples from the North Pacific was approximately 2 Ma. 14 of the remaining North Pacific samples formed a well-supported clade within the Southern Hemisphere. The TMRCA for this node suggests that at least one female from the Southern Hemisphere immigrated to the North Pacific approximately 0.37 Ma. These results provide strong evidence that North Pacific and North Atlantic fin whales should not be considered the same subspecies, and suggest the need for revision of the global taxonomy of the species.

  14. Parameters selection in gene selection using Gaussian kernel support vector machines by genetic algorithm

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    In microarray-based cancer classification, gene selection is an important issue owing to the large number of variables and small number of samples as well as its non-linearity. It is difficult to get satisfying results by using conventional linear statistical methods. Recursive feature elimination based on support vector machine (SVM RFE) is an effective algorithm for gene selection and cancer classification, which are integrated into a consistent framework. In this paper, we propose a new method to select parameters of the aforementioned algorithm implemented with Gaussian kernel SVMs as better alternatives to the common practice of selecting the apparently best parameters by using a genetic algorithm to search for a couple of optimal parameter. Fast implementation issues for this method are also discussed for pragmatic reasons. The proposed method was tested on two representative hereditary breast cancer and acute leukaemia datasets. The experimental results indicate that the proposed method performs well in selecting genes and achieves high classification accuracies with these genes.

  15. The Hybrid Dynamic Prototype Construction and Parameter Optimization with Genetic Algorithm for Support Vector Machine

    Directory of Open Access Journals (Sweden)

    Chun-Liang Lu

    2015-10-01

    Full Text Available The optimized hybrid artificial intelligence model is a potential tool to deal with construction engineering and management problems. Support vector machine (SVM has achieved excellent performance in a wide variety of applications. Nevertheless, how to effectively reduce the training complexity for SVM is still a serious challenge. In this paper, a novel order-independent approach for instance selection, called the dynamic condensed nearest neighbor (DCNN rule, is proposed to adaptively construct prototypes in the training dataset and to reduce the redundant or noisy instances in a classification process for the SVM. Furthermore, a hybrid model based on the genetic algorithm (GA is proposed to simultaneously optimize the prototype construction and the SVM kernel parameters setting to enhance the classification accuracy. Several UCI benchmark datasets are considered to compare the proposed hybrid GA-DCNN-SVM approach with the previously published GA-based method. The experimental results illustrate that the proposed hybrid model outperforms the existing method and effectively improves the classification performance for the SVM.

  16. The color of a Dalmatian's spots: Linkage evidence to support the TYRP1 gene

    Directory of Open Access Journals (Sweden)

    Strain George M

    2005-07-01

    Full Text Available Abstract Background The distinctive coat pattern of a Dalmatian is the result of the interaction of several loci. While the encoded function of these genes is not fully understood, it is known the Piebald, Ticking, and Flecking loci interact to produce the Dalmatian's classic pigmented spots on a white background. The color of the pigmented spots in purebred Dalmatians can either be black or liver, but the locus responsible for color determination is unknown. Studies have been conducted to determine the underlying genes involved in coat color determination in the dog, e.g., in the Labrador Retriever, but none to date have addressed black versus liver in the Dalmatian. Results A genome scan was conducted in a multi-generational kindred of Dalmatians segregating black and liver spot color. Linkage analysis was performed using a total of 113 polymorphic microsatellite markers from the kindred. Linkage was found between spot color and a single microsatellite marker, FH2319 (LOD = 12.5 on chromosome 11. Conclusion The TYRP1 (Brown locus is located at position 50.1 Mb on chromosome 11, which is approximately 0.4 Mb from marker FH2319. Given the recent characterization of TYRP1 genetic variations in the dog and the linkage evidence reported here, TYRP1 is likely responsible for the spot color variation of black versus liver seen in the Dalmatian.

  17. Evidence supporting the Genetic Models of Annett and McManus

    OpenAIRE

    2013-01-01

    The population proportions of handedness in Bulgaria have been explored twice with a 15-year interval between them. Two separate analyses have been carried out with different subdivisions of the studied persons: left-handed/right-handed and non-right-handed/right-handed. Statistically significant differences between the results of both surveys have not been found. Aggregated data show that: left-handed people in Bulgaria comprise 6.5% of the population; 11.5% of all Bulgarians fall in the bro...

  18. Genetic and proteomic evidences support the localization of yeast enolase in the cell surface

    DEFF Research Database (Denmark)

    López-Villar, Elena; Monteoliva, Lucía; Larsen, Martin Røssel

    2006-01-01

    Although enolase, other glycolytic enzymes, and a variety of cytoplasmic proteins lacking an N-terminal secretion signal have been widely described as located at the cell surface in yeast and in mammalian cells, their presence in this external location is still controversial. Here, we report that...

  19. The Media and Genetically Modified Foods : Evidence in Support of Social Amplification of Risk

    NARCIS (Netherlands)

    Frewer, L.J.; Miles, S.; Marsh, R.

    2002-01-01

    Empirical examinations of the "social amplification of risk" framework are rare, partly because of the difficulties in predicting when conditions likely to result in amplification effects will occur. This means that it is difficult to examine changes in risk perception that are contemporaneous with

  20. Genetic and proteomic evidences support the localization of yeast enolase in the cell surface

    DEFF Research Database (Denmark)

    López-Villar, Elena; Monteoliva, Lucía; Larsen, Martin Røssel;

    2006-01-01

    Although enolase, other glycolytic enzymes, and a variety of cytoplasmic proteins lacking an N-terminal secretion signal have been widely described as located at the cell surface in yeast and in mammalian cells, their presence in this external location is still controversial. Here, we report that...

  1. The Media and Genetically Modified Foods : Evidence in Support of Social Amplification of Risk

    NARCIS (Netherlands)

    Frewer, L.J.; Miles, S.; Marsh, R.

    2002-01-01

    Empirical examinations of the "social amplification of risk" framework are rare, partly because of the difficulties in predicting when conditions likely to result in amplification effects will occur. This means that it is difficult to examine changes in risk perception that are contemporaneous with

  2. Facilitating the implementation of evidence-based practice through contextual support and nursing leadership

    Directory of Open Access Journals (Sweden)

    Kueny A

    2015-06-01

    Full Text Available Angela Kueny,1 Leah L Shever,2 Melissa Lehan Mackin,3 Marita G Titler4 1Luther College, Decorah, IA, 2The University of Michigan Hospital and Health Center, Ann Arbor, MI, 3University of Iowa College of Nursing, Iowa City, IA, 4University of Michigan School of Nursing, Ann Arbor, MI, USA Background/purpose: Nurse managers (NMs play an important role promoting evidence-based practice (EBP on clinical units within hospitals. However, there is a dearth of research focused on NM perspectives about institutional contextual factors to support the goal of EBP on the clinical unit. The purpose of this article is to identify contextual factors described by NMs to drive change and facilitate EBP at the unit level, comparing and contrasting these perspectives across nursing units. Methods: This study employed a qualitative descriptive design using interviews with nine NMs who were participating in a large effectiveness study. To stratify the sample, NMs were selected from nursing units designated as high or low performing based on implementation of EBP interventions, scores on the Meyer and Goes research use scale, and fall rates. Descriptive content analysis was used to identify themes that reflect the complex nature of infrastructure described by NMs and contextual influences that supported or hindered their promotion of EBP on the clinical unit. Results: NMs perceived workplace culture, structure, and resources as facilitators or barriers to empowering nurses under their supervision to use EBP and drive change. A workplace culture that provides clear communication of EBP goals or regulatory changes, direct contact with CEOs, and clear expectations supported NMs in their promotion of EBP on their units. High-performing unit NMs described a structure that included nursing-specific committees, allowing nurses to drive change and EBP from within the unit. NMs from high-performing units were more likely to articulate internal resources, such as quality

  3. Role of creatine kinase isoenzymes on muscular and cardiorespiratory endurance: genetic and molecular evidence.

    Science.gov (United States)

    Echegaray, M; Rivera, M A

    2001-01-01

    polymorphism, distinguished by the NcoI restriction enzyme, and an increase in cardiorespiratory endurance as indexed by maximal oxygen uptake following 20 weeks of training. In conclusion, there is now evidence at the tissue, cell and molecular level indicating that the CK-PCr system plays an important role in determining the phenotypes of muscular and cardiorespiratory endurance. It is envisioned that newer technologies will help determine how the genetic variability of these genes (and many others) impact on performance and health-related phenotypes.

  4. Quantitative genetic analysis of brain size variation in sticklebacks: support for the mosaic model of brain evolution.

    Science.gov (United States)

    Noreikiene, Kristina; Herczeg, Gábor; Gonda, Abigél; Balázs, Gergely; Husby, Arild; Merilä, Juha

    2015-07-07

    The mosaic model of brain evolution postulates that different brain regions are relatively free to evolve independently from each other. Such independent evolution is possible only if genetic correlations among the different brain regions are less than unity. We estimated heritabilities, evolvabilities and genetic correlations of relative size of the brain, and its different regions in the three-spined stickleback (Gasterosteus aculeatus). We found that heritabilities were low (average h(2) = 0.24), suggesting a large plastic component to brain architecture. However, evolvabilities of different brain parts were moderate, suggesting the presence of additive genetic variance to sustain a response to selection in the long term. Genetic correlations among different brain regions were low (average rG = 0.40) and significantly less than unity. These results, along with those from analyses of phenotypic and genetic integration, indicate a high degree of independence between different brain regions, suggesting that responses to selection are unlikely to be severely constrained by genetic and phenotypic correlations. Hence, the results give strong support for the mosaic model of brain evolution. However, the genetic correlation between brain and body size was high (rG = 0.89), suggesting a constraint for independent evolution of brain and body size in sticklebacks.

  5. Decision support for evidence-based pharmacotherapy detects adherence problems but does not impact medication use.

    Science.gov (United States)

    Willis, Janese M; Edwards, Rex; Anstrom, Kevin J; Johnson, Fred S; Del Fiol, Guilherme; Kawamoto, Kensaku; Lapointe, Nancy M Allen; Eisenstein, Eric L; Lobach, David F

    2013-01-01

    Although evidence-based pharmacotherapies are a principal component of patient care, 30-50% of patients do not take their medications as prescribed. We conducted a randomized trial of two clinical decision support (CDS) interventions in 2219 patients: patient adherence reports to providers (n=744), patient adherence reports to providers + email notices to care managers (n=736), and controls (739). At 18-month follow-up, there were no treatment-related differences in patient medication adherence (overall, by medication class, and by medical condition). There also were no treatment-related differences in patient clinical and economic outcomes. Thus, while this study's CDS information interventions were successfully delivered to providers and care managers, and were effective in identifying medication adherence deficits and in increasing care manager responses to medication adherences issues, these interventions were not able to alter patient medication behavior.

  6. Support as a complement, intrusion and right--evidence from ageing and disability support service users in Sweden and Australia.

    Science.gov (United States)

    Laragy, Carmel; Fisher, Karen R; Cedersund, Elisabet; Campbell-McLean, Carolyn

    2011-12-01

    How service users conceptualise their personal support services is under researched, even though this understanding is important for responsive policy development and service implementation. This paper tests the proposition that service users understand formal support in three ways: support is a complement to their other arrangements, an intrusion into their personal life and a right. These three concepts were identified using discourse analysis in a Swedish study of older people wanting in-home support services. To test generalisability of these concepts, they were applied to data from an Australian study of people using disability personal support. The analysis found that the three concepts were core to people's views of their support, although the construction of the concepts differed in the two countries. Service users in Sweden asserted their right to services more forcefully than those in Australia, and they had higher expectations that their support needs would be met. These differences reflect the impact of each country's social policy environment on service users' expectations. The analysis suggests that service users and their families want to control their formal support arrangements to complement their informal care and their life preferences and to minimise the intrusive aspects of formal support. The findings imply that the three concepts have utility for theorising service users' perspectives, informing policy and developing implementation strategies which enhance peoples' quality of life.

  7. 20 CFR 10.502 - How does OWCP evaluate evidence in support of continuing receipt of compensation benefits?

    Science.gov (United States)

    2010-04-01

    ... continuing receipt of compensation benefits? 10.502 Section 10.502 Employees' Benefits OFFICE OF WORKERS... THE FEDERAL EMPLOYEES' COMPENSATION ACT, AS AMENDED Continuing Benefits Rules and Evidence § 10.502 How does OWCP evaluate evidence in support of continuing receipt of compensation benefits? In...

  8. 20 CFR 10.501 - What medical evidence is necessary to support continuing receipt of compensation benefits?

    Science.gov (United States)

    2010-04-01

    ... continuing receipt of compensation benefits? 10.501 Section 10.501 Employees' Benefits OFFICE OF WORKERS... THE FEDERAL EMPLOYEES' COMPENSATION ACT, AS AMENDED Continuing Benefits Rules and Evidence § 10.501 What medical evidence is necessary to support continuing receipt of compensation benefits? (a) The...

  9. Evidence for genetic control of adult weight plasticity in the snail Helix aspersa

    DEFF Research Database (Denmark)

    Ros, Mathieu; Sorensen, Daniel; Waagepetersen, Rasmus Plenge

    2004-01-01

    Phenotypic plasticity and canalization are important topics in quantitative genetics and evolution. Both concepts are related to environmental sensitivity. The latter can be modeled using a model with genetically structured environmental variance. This work reports the results of a genetic analysis...... of adult weight in the snail Helix aspersa. Several models of heterogeneous variance are fitted using a Bayesin, MCMC approach. Exploratory analyses using posterior predictive model checking and model comparisons based on the deviance information criterion favor a model postulating a genetically structured...... heterogeneous environmental variance. Our analysis provides a strong indication of a positive genetic correlation between additive genetic values affecting the mean and those affecting environmental variation of adult body weight. The possibility of manipulating environmental variance by selection...

  10. Mobile DNA and the TE-Thrust hypothesis: supporting evidence from the primates

    Science.gov (United States)

    2011-01-01

    Transposable elements (TEs) are increasingly being recognized as powerful facilitators of evolution. We propose the TE-Thrust hypothesis to encompass TE-facilitated processes by which genomes self-engineer coding, regulatory, karyotypic or other genetic changes. Although TEs are occasionally harmful to some individuals, genomic dynamism caused by TEs can be very beneficial to lineages. This can result in differential survival and differential fecundity of lineages. Lineages with an abundant and suitable repertoire of TEs have enhanced evolutionary potential and, if all else is equal, tend to be fecund, resulting in species-rich adaptive radiations, and/or they tend to undergo major evolutionary transitions. Many other mechanisms of genomic change are also important in evolution, and whether the evolutionary potential of TE-Thrust is realized is heavily dependent on environmental and ecological factors. The large contribution of TEs to evolutionary innovation is particularly well documented in the primate lineage. In this paper, we review numerous cases of beneficial TE-caused modifications to the genomes of higher primates, which strongly support our TE-Thrust hypothesis. PMID:21627776

  11. Mobile DNA and the TE-Thrust hypothesis: supporting evidence from the primates

    Directory of Open Access Journals (Sweden)

    Oliver Keith R

    2011-05-01

    Full Text Available Abstract Transposable elements (TEs are increasingly being recognized as powerful facilitators of evolution. We propose the TE-Thrust hypothesis to encompass TE-facilitated processes by which genomes self-engineer coding, regulatory, karyotypic or other genetic changes. Although TEs are occasionally harmful to some individuals, genomic dynamism caused by TEs can be very beneficial to lineages. This can result in differential survival and differential fecundity of lineages. Lineages with an abundant and suitable repertoire of TEs have enhanced evolutionary potential and, if all else is equal, tend to be fecund, resulting in species-rich adaptive radiations, and/or they tend to undergo major evolutionary transitions. Many other mechanisms of genomic change are also important in evolution, and whether the evolutionary potential of TE-Thrust is realized is heavily dependent on environmental and ecological factors. The large contribution of TEs to evolutionary innovation is particularly well documented in the primate lineage. In this paper, we review numerous cases of beneficial TE-caused modifications to the genomes of higher primates, which strongly support our TE-Thrust hypothesis.

  12. Evidence to support karyotypic variation of the mosquito, Anopheles peditaeniatus in Thailand.

    Science.gov (United States)

    Choochote, Wej

    2011-01-01

    Eight isoline colonies of Anopheles peditaeniatus Leicester (Diptera: Culicidae) were established from wild-caught females collected from buffalo-baited traps at 8 localities in Thailand. They showed 2 types of X (X(2), X(3)) and 4 types of Y (Y(2), Y(3), Y(4), Y(5)) chromosomes based on the number and amount of major block(s) of heterochromatin present in the heterochromatic arm, and were tentatively designated as Forms B (X(2), X(3), Y(2)), C (X(3), Y(3)), D (X(3), Y(4)) and E (X(2), X(3), Y(5)). Form B was found in Nan, Ratchaburi, and Chumphon provinces; Form C was obtained in Chon Buri province; Form D was recovered in Kamphaeng Phet province; and Form E was acquired in Chiang Mai, Udon Thani, and Ubon Ratchathani provinces. Crossing studies among the 8 isoline colonies, which were representative of 4 karyotypic forms of An. peditaeniatus, revealed genetic compatibility in providing viable progenies and synaptic salivary gland polytene chromosomes through F(2)-generations, thus suggesting the conspecific nature of these karyotypic forms. These results were supported by the very low intraspecific sequence variations (0.0 - 1.1%) of the nucleotide sequences in ribosomal DNA (ITS2) and mitochondrial DNA (COI and COII) of the 4 forms.

  13. Evidence - competence - discourse: the theoretical framework of the multi-centre clinical ethics support project METAP.

    Science.gov (United States)

    Reiter-Theil, Stella; Mertz, Marcel; Schürmann, Jan; Stingelin Giles, Nicola; Meyer-Zehnder, Barbara

    2011-09-01

    In this paper we assume that 'theory' is important for Clinical Ethics Support Services (CESS). We will argue that the underlying implicit theory should be reflected. Moreover, we suggest that the theoretical components on which any clinical ethics support (CES) relies should be explicitly articulated in order to enhance the quality of CES. A theoretical framework appropriate for CES will be necessarily complex and should include ethical (both descriptive and normative), metaethical and organizational components. The various forms of CES that exist in North-America and in Europe show their underlying theory more or less explicitly, with most of them referring to some kind of theoretical components including 'how-to' questions (methodology), organizational issues (implementation), problem analysis (phenomenology or typology of problems), and related ethical issues such as end-of-life decisions (major ethical topics). In order to illustrate and explain the theoretical framework that we are suggesting for our own CES project METAP, we will outline this project which has been established in a multi-centre context in several healthcare institutions. We conceptualize three 'pillars' as the major components of our theoretical framework: (1) evidence, (2) competence, and (3) discourse. As a whole, the framework is aimed at developing a foundation of our CES project METAP. We conclude that this specific integration of theoretical components is a promising model for the fruitful further development of CES. © 2011 Blackwell Publishing Ltd.

  14. Genetic evidence for p75NTR-dependent tetraploidy in cortical projection neurons from adult mice.

    Science.gov (United States)

    López-Sánchez, Noelia; Frade, José M

    2013-04-24

    A subpopulation of chick retinal projection neurons becomes tetraploid during development, an event prevented by blocking antibodies against p75 neurotrophin receptor (p75(NTR)). We have used an optimized flow cytometric assay, based on the analysis of unfixed brain cell nuclei, to study whether p75(NTR)-dependent neuronal tetraploidization takes place in the cerebral cortex, giving rise to projection neurons as well. We show that 3% of neurons in both murine neocortex and chick telencephalic derivatives are tetraploid, and that in the mouse ~85% of these neurons express the immediate early genes Erg-1 and c-Fos, indicating that they are functionally active. Tetraploid cortical neurons (65-80%) express CTIP2, a transcription factor specific for subcortical projection neurons in the mouse neocortex. During the period in which these neurons are born, p75(NTR) is detected in differentiating neurons undergoing DNA replication. Accordingly, p75(NTR)-deficient mice contain a reduced proportion of both NeuN and CTIP2-positive neocortical tetraploid neurons, thus providing genetic evidence for the participation of p75(NTR) in the induction of neuronal tetraploidy in the mouse neocortex. In the striatum tetraploidy is mainly associated with long-range projection neurons as well since ~80% of tetraploid neurons in this structure express calbindin, a marker of neostriatal-matrix spiny neurons, known to establish long-range projections to the substantia nigra and globus pallidus. In contrast, only 20% of tetraploid cortical neurons express calbindin, which is mainly expressed in layers II-III, where CTIP2 is absent. We conclude that tetraploidy mainly affects long-range projection neurons, being facilitated by p75(NTR) in the neocortex.

  15. Statistical and population genetics issues of two Hungarian datasets from the aspect of DNA evidence interpretation.

    Science.gov (United States)

    Szabolcsi, Zoltán; Farkas, Zsuzsa; Borbély, Andrea; Bárány, Gusztáv; Varga, Dániel; Heinrich, Attila; Völgyi, Antónia; Pamjav, Horolma

    2015-11-01

    When the DNA profile from a crime-scene matches that of a suspect, the weight of DNA evidence depends on the unbiased estimation of the match probability of the profiles. For this reason, it is required to establish and expand the databases that reflect the actual allele frequencies in the population applied. 21,473 complete DNA profiles from Databank samples were used to establish the allele frequency database to represent the population of Hungarian suspects. We used fifteen STR loci (PowerPlex ESI16) including five, new ESS loci. The aim was to calculate the statistical, forensic efficiency parameters for the Databank samples and compare the newly detected data to the earlier report. The population substructure caused by relatedness may influence the frequency of profiles estimated. As our Databank profiles were considered non-random samples, possible relationships between the suspects can be assumed. Therefore, population inbreeding effect was estimated using the FIS calculation. The overall inbreeding parameter was found to be 0.0106. Furthermore, we tested the impact of the two allele frequency datasets on 101 randomly chosen STR profiles, including full and partial profiles. The 95% confidence interval estimates for the profile frequencies (pM) resulted in a tighter range when we used the new dataset compared to the previously published ones. We found that the FIS had less effect on frequency values in the 21,473 samples than the application of minimum allele frequency. No genetic substructure was detected by STRUCTURE analysis. Due to the low level of inbreeding effect and the high number of samples, the new dataset provides unbiased and precise estimates of LR for statistical interpretation of forensic casework and allows us to use lower allele frequencies.

  16. Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence.

    LENUS (Irish Health Repository)

    Murphy, S

    2012-02-01

    BACKGROUND: Cognitive impairment and dementia has been reported in autosomal dominant hereditary spastic paraparesis (HSP) linked to the SPG4 locus. There has only been one postmortem examination described; not all accept that progressive cognitive decline is a feature of this disorder. OBJECTIVE: A family with SPG4-HSP known to have a deletion of exon 17 in the spastin gene (SPG4delEx17) was cognitively assessed over a 7-year period. The index family member died and a postmortem examination was performed. METHODS: Thirteen family members older than 40 years were clinically and cognitively assessed using the Cambridge Cognitive Assessment over a 7-year period. The presence of SPG4delEx17 was assessed; a neuropathologic examination of the brain of the index family member was performed. RESULTS: Cognitive decline occurred in 6 of the 13 family members and in all 4 older than 60 years. Two genetic deletions were identified: SPG4delEx17 in 12 of the 13 family members and a deletion of SPG6 (SPG6del) in 5. Eight individuals had the SPG4delEx17 deletion only; 4 had evidence of progressive cognitive impairment. Four family members had both SPG4delEx17 and SPG6del; 2 of these had cognitive impairment. One family member with the SPG6del alone had neither HSP nor cognitive impairment. The index case with both deletions died with dementia; the brain showed widespread ubiquitin positivity within the neocortex and white matter. CONCLUSION: Cognitive decline and dementia is a feature of SPG4-HSP due to a deletion of exon 17 of the spastin gene.

  17. Structuring a life support program using evidence-based practice and the Magnet model for successful patient outcomes.

    Science.gov (United States)

    Krugman, Mary; Paston, Kristin

    2013-01-01

    Integrating life support activities into an acute care academic hospital structure using evidence-based practice and the Magnet Model framework provides program operations and outcomes that are cost effective, link quality to life support professional development, and demonstrate excellence patient safety outcomes.

  18. Evidence-based management of ambulatory electronic health record system implementation: an assessment of conceptual support and qualitative evidence.

    Science.gov (United States)

    McAlearney, Ann Scheck; Hefner, Jennifer L; Sieck, Cynthia; Rizer, Milisa; Huerta, Timothy R

    2014-07-01

    While electronic health record (EHR) systems have potential to drive improvements in healthcare, a majority of EHR implementations fall short of expectations. Shortcomings in implementations are often due to organizational issues around the implementation process rather than technological problems. Evidence from both the information technology and healthcare management literature can be applied to improve the likelihood of implementation success, but the translation of this evidence into practice has not been widespread. Our objective was to comprehensively study and synthesize best practices for managing ambulatory EHR system implementation in healthcare organizations, highlighting applicable management theories and successful strategies. We held 45 interviews with key informants in six U.S. healthcare organizations purposively selected based on reported success with ambulatory EHR implementation. We also conducted six focus groups comprised of 37 physicians. Interview and focus group transcripts were analyzed using both deductive and inductive methods to answer research questions and explore emergent themes. We suggest that successful management of ambulatory EHR implementation can be guided by the Plan-Do-Study-Act (PDSA) quality improvement (QI) model. While participants did not acknowledge nor emphasize use of this model, we found evidence that successful implementation practices could be framed using the PDSA model. Additionally, successful sites had three strategies in common: 1) use of evidence from published health information technology (HIT) literature emphasizing implementation facilitators; 2) focusing on workflow; and 3) incorporating critical management factors that facilitate implementation. Organizations seeking to improve ambulatory EHR implementation processes can use frameworks such as the PDSA QI model to guide efforts and provide a means to formally accommodate new evidence over time. Implementing formal management strategies and incorporating

  19. Molecular genetic and genetic correlations in sodium channelopathies: Lack of founder effect and evidence for a second gene

    Energy Technology Data Exchange (ETDEWEB)

    Wang, J.; Zhou, J.; Feero, W.G.; Conwit, R.; Galloway, G.; Hoffman, E.P. (Univ. of Pittsburgh, PA (United States)); Wessel, H.B. (Children' s Hospital, Pittsburgh, PA (United States) Univ. of Pittsburgh, PA (United States)); Todorovic, S.M. (Univ. of Belgrade (Yugoslavia)); Barany, F. (Cornell Univ., New York, NY (United States)); Hausmanowa-Petrusewicz, I.; Fidzianska, A. (Polish Academy of Sciences, Warsaw (Poland)); Arahata, K. (National Inst. of Neuroscience, Tokyo (Japan)); Sillen, A. (University Hospital, Uppsala (Sweden)); Marks, H.G. (A. I. duPont Inst., Wilmington, DE (United States)); Hartlage, P. (Medical College of Georgia, Augusta (United States)); Ricker, K. (Univ. of Wuerzburg (Germany)); Lehmann-Horn, F. (Univ. of Ulm (Germany)); Hayakawa, H. (Hitachi General Hospital (Japan))

    1993-06-01

    The authors present a correlation of molecular genetic data (mutations) and genetic data (dinucleotide-repeat polymorphisms) for a cohort of seven hyperkalemic periodic paralysis (HyperPP) and two paramyotonia congenita (PC) families from diverse ethnic backgrounds. They found that each of three previously identified point mutations of the adult skeletal muscle sodium-channel gene occurred on two different dinucleotide-repeat haplotypes. These results indicate that dinucleotide-repeat haplotypes are not predictive of allelic heterogeneity in sodium channelopathies, contrary to previous suggestions. In addition, they identified a HyperPP pedigree in which the dominant disorder was not linked to the sodium-channel gene. Thus, a second locus can give rise to a similar clinical phenotype. Some individuals in this pedigree exhibited a base change causing the nonconservative substitution of an evolutionarily conserved amino acid. Because this change was not present in 240 normal chromosomes and was near another HyperPP mutation, it fulfilled the most commonly used criteria for being a mutation rather than a polymorphism. However, linkage studies using single-strand conformation polymorphism-derived and sequence-derived haplotypes excluded this base change as a causative mutation: these data serve as a cautionary example of potential pitfalls in the delineation of change-of-function point mutations. 35 refs., 5 figs., 1 tab.

  20. The Evidence in Support of Physicians and Health Care Providers as Physical Activity Role Models

    Science.gov (United States)

    Lobelo, Felipe; de Quevedo, Isabel Garcia

    2015-01-01

    Physical inactivity constitutes the fourth leading cause of death worldwide. Health care providers (HCPs) should play a key role in counseling and appropriately referring their patients to adopt physical activity (PA). Previous reports suggest that active HCPs are more likely to provide better, more credible, and motivating preventive counseling to their patients. This review summarizes the available evidence on the association between HCPs’ personal PA habits and their related PA counseling practices. Based on relevant studies, a snowball search strategy identified, out of 196 studies screened, a total of 47 pertinent articles published between 1979 and 2012. Of those, 23 described HCPs’ PA habits and/or their counseling practices and 24 analytic studies evaluated the association between HCPs’ personal PA habits and their PA counseling practices. The majority of studies came from the United States (n = 33), and 9 studies included nonphysicians (nurses, pharmacists, and other HCPs). PA levels were mostly self-reported, and counseling was typically assessed as self-reported frequency or perceived self-efficacy in clinical practice. Most (19 out of 24) analytic studies reported a significant positive association between HCPs’ PA habits and counseling frequency, with odds ratios ranging between 1.4 and 5.7 (P < .05), in 6 studies allowing direct comparison. This review found consistent evidence supporting the notion that physically active physicians and other HCPs are more likely to provide PA counseling to their patients and can indeed become powerful PA role models. This evidence appears sufficient to justify randomized trials to determine if adding interventions to promote PA among HCPs, also results in improvements in the frequency and quality of PA preventive counseling and referrals, delivered by HCPs, to patients in primary care settings. Future studies should also aim at objectively quantifying the effect of HCPs’ PA role-modeling and how it

  1. Familial clustering of epilepsy and behavioral disorders: Evidence for a shared genetic basis

    Science.gov (United States)

    Hesdorffer, Dale C.; Caplan, Rochelle; Berg, Anne T.

    2011-01-01

    Purpose To examine whether family history of unprovoked seizures is associated with behavioral disorders in epilepsy probands, thereby supporting the hypothesis of shared underlying genetic susceptibility to these disorders. Methods We conducted an analysis of the 308 probands with childhood onset epilepsy from the Connecticut Study of Epilepsy with information on first degree family history of unprovoked seizures and of febrile seizures whose parents completed the Child Behavior Checklist (CBCL) at the 9-year follow-up. Clinical cut-offs for CBCL problem and DSM-Oriented scales were examined. The association between first degree family history of unprovoked seizure and behavioral disorders was assessed separately in uncomplicated and complicated epilepsy and separately for first degree family history of febrile seizures. A subanalysis, accounting for the tendency for behavioral disorders to run in families, adjusted for siblings with the same disorder as the proband. Prevalence ratios were used to describe the associations. Key findings In probands with uncomplicated epilepsy, first degree family history of unprovoked seizure was significantly associated with clinical cut-offs for Total Problems and Internalizing Disorders. Among Internalizing Disorders, clinical cut-offs for Withdrawn/Depressed, and DSM-Oriented scales for Affective Disorder and Anxiety Disorder were significantly associated with family history of unprovoked seizures. Clinical cut-offs for Aggressive Behavior and Delinquent Behavior, and DSM-Oriented scales for Conduct Disorder and Oppositional Defiant Disorder were significantly associated with family history of unprovoked seizure. Adjustment for siblings with the same disorder revealed significant associations for the relationship between first degree family history of unprovoked seizure and Total Problems and Agressive Behavior in probands with uncomplicated epilepsy; marginally significant results were seen for Internalizing Disorder

  2. Patterns of genetic structure and evidence of gene flow among Tunisian Citrus species based on informative nSSR markers.

    Science.gov (United States)

    Ben Romdhane, Meriam; Riahi, Leila; Selmi, Ayet; Zoghlami, Nejia

    2016-01-01

    This study investigates the extent of genetic diversity, phylogenetic relationships and the amount of gene flow among Tunisian Citrus species based on a set of 15 informative nuclear SSR molecular markers. Genotyping data highlighted an allelic richness among Tunisian Citrus species and has allowed the detection of 168 alleles among them 104.19 were effective. The partition of the total genetic diversity (HT=0.832) showed that the highest amount of variation within the Citrus species is HS=0.550, while the relative amount of the between-species genetic diversity GST does not exceed 0.338. This pattern of genetic structure was supported by low-to-moderate FST pairwise values and the presence of a gene flow (Nm) among the eight Citrus species. The lowest genetic differentiation was revealed between the species C. sinensis and C. insitorum (FST=0.111, Nm=1.99), while the highest genetic differentiation was recorded between the species C. aurantifolia and C. paradisi (FST=0.367, Nm=0.43). The established Neighbor Joining analysis showed that all genotypes were widely discriminated and clearly pooled according to their species of origin, with minor exceptions. Copyright © 2016 Académie des sciences. Published by Elsevier SAS. All rights reserved.

  3. Feature Subset Selection for Hot Method Prediction using Genetic Algorithm wrapped with Support Vector Machines

    Directory of Open Access Journals (Sweden)

    S. Johnson

    2011-01-01

    Full Text Available Problem statement: All compilers have simple profiling-based heuristics to identify and predict program hot methods and also to make optimization decisions. The major challenge in the profile-based optimization is addressing the problem of overhead. The aim of this work is to perform feature subset selection using Genetic Algorithms (GA to improve and refine the machine learnt static hot method predictive technique and to compare the performance of the new models against the simple heuristics. Approach: The relevant features for training the predictive models are extracted from an initial set of randomly selected ninety static program features, with the help of the GA wrapped with the predictive model using the Support Vector Machine (SVM, a Machine Learning (ML algorithm. Results: The GA-generated feature subsets containing thirty and twenty nine features respectively for the two predictive models when tested on MiBench predict Long Running Hot Methods (LRHM and frequently called hot methods (FCHM with the respective accuracies of 71% and 80% achieving an increase of 19% and 22%. Further, inlining of the predicted LRHM and FCHM improve the program performance by 3% and 5% as against 4% and 6% with Low Level Virtual Machines (LLVM default heuristics. When intra-procedural optimizations (IPO are performed on the predicted hot methods, this system offers a performance improvement of 5% and 4% as against 0% and 3% by LLVM default heuristics on LRHM and FCHM respectively. However, we observe an improvement of 36% in certain individual programs. Conclusion: Overall, the results indicate that the GA wrapped with SVM derived feature reduction improves the hot method prediction accuracy and that the technique of hot method prediction based optimization is potentially useful in selective optimization.

  4. Genetic and neurological foundations of customer orientation: field and experimental evidence

    NARCIS (Netherlands)

    R.P. Bagozzi (Richard); W.J.M.I. Verbeke (Willem); W.E. van den Berg (Wouter); W.J.R. Rietdijk (Wim); R.C. Dietvorst (Roeland); L. Worm (Loek)

    2012-01-01

    textabstractWe explore genetic and neurological bases for customer orientation (CO) and contrast them with sales orientation (SO). Study 1 is a field study that establishes that CO, but not SO, leads to greater opportunity recognition. Study 2 examines genetic bases for CO and finds that salespeople

  5. Genetic Risk by Experience Interaction for Childhood Internalizing Problems: Converging Evidence across Multiple Methods

    Science.gov (United States)

    Vendlinski, Matthew K.; Lemery-Chalfant, Kathryn; Essex, Marilyn J.; Goldsmith, H. Hill

    2011-01-01

    Background: Identifying how genetic risk interacts with experience to predict psychopathology is an important step toward understanding the etiology of mental health problems. Few studies have examined genetic risk by experience interaction (GxE) in the development of childhood psychopathology. Methods: We used both co-twin and parent mental…

  6. Genetic Risk by Experience Interaction for Childhood Internalizing Problems: Converging Evidence across Multiple Methods

    Science.gov (United States)

    Vendlinski, Matthew K.; Lemery-Chalfant, Kathryn; Essex, Marilyn J.; Goldsmith, H. Hill

    2011-01-01

    Background: Identifying how genetic risk interacts with experience to predict psychopathology is an important step toward understanding the etiology of mental health problems. Few studies have examined genetic risk by experience interaction (GxE) in the development of childhood psychopathology. Methods: We used both co-twin and parent mental…

  7. Mitochondrial DNA evidence supports northeast Indian origin of the aboriginal Andamanese in the Late Paleolithic

    Institute of Scientific and Technical Information of China (English)

    Hua-Wei Wang; Bikash Mitra; Tapas Kumar Chaudhuri; Malliya gounder Palanichamy; Qing-Peng Kong; Ya-Ping Zhang

    2011-01-01

    In view of the geographically closest location to Andaman archipelago,Myanmar was suggested to be the origin place of aboriginal Andamanese.However,for lacking any genetic information from this region,which has prevented to resolve the dispute on whether the aboriginal Andamanese were originated from mainland India or Myanmar.To solve this question and better understand the origin of the aboriginal Andamanese,we screened for haplogroups M31(from which Andaman-specific lineage M31a1 branched off)and M32 among 846mitochondrial DNAs(mtDNAs)sampled across Myanmar.As a result,two Myanmar individuals belonging to haplogroup M31 were identified,and completely sequencing the entire mtDNA genomes of both samples testified that the two M31 individuals observed in Myanmar were probably attributed to the recent gene flow from northeast India populations.Since no root lineages of haplogroup M31 or M32 were observed in Myanmar,it is unlikely that Myanmar may serve as the source place of the aboriginal Andamanese.To get further insight into the origin of this unique population,the detailed phylogenetic and phylogeographic analyses were performed by including additional 7 new entire mtDNA genomes and 113 M31 mtDNAs pinpointed from South Asian populations,and the results suggested that Andaman-specific M31a1 could in fact trace its origin to northeast India.Time estimation results further indicated that the Andaman archipelago was likely settled by modern humans from northeast India via the land-bridge which connected the Andaman archipelago and Myanmar around the Last Glacial Maximum(LGM),a scenario in well agreement with the evidence from linguistic and palaeoclimate studies.

  8. Evidence for a genetic overlap between body dysmorphic concerns and obsessive-compulsive symptoms in an adult female community twin sample.

    Science.gov (United States)

    Monzani, Benedetta; Rijsdijk, Fruhling; Iervolino, Alessandra C; Anson, Martin; Cherkas, Lynn; Mataix-Cols, David

    2012-06-01

    Body dysmorphic disorder (BDD) is thought to be etiologically related to obsessive-compulsive disorder (OCD) but the available evidence is incomplete. The current study examined the genetic and environmental sources of covariance between body dysmorphic and obsessive-compulsive symptoms in a community sample of adult twins. A total of 2,148 female twins (1,074 pairs) completed valid and reliable measures of body dysmorphic concerns and obsessive-compulsive symptoms. The data were analyzed using bivariate twin modeling methods and the statistical programme Mx. In the best-fitting model, the covariation between body dysmorphic and obsessive-compulsive traits was largely accounted for by genetic influences common to both phenotypes (64%; 95% CI: 0.50-0.80). This genetic overlap was even higher when specific obsessive-compulsive symptom dimensions were considered, with up to 82% of the phenotypic correlation between the obsessing and symmetry/ordering symptom dimensions and dysmorphic concerns being attributable to common genetic factors. Unique environmental factors, although influencing these traits individually, did not substantially contribute to their covariation. The results remained unchanged when excluding individuals reporting an objective medical condition/injury accounting for their concern in physical appearance. The association between body dysmorphic concerns and obsessive-compulsive symptoms is largely explained by shared genetic factors. Environmental risk factors were largely unique to each phenotype. These results support current recommendations to group BDD together with OCD in the same DSM-5 chapter, although comparison with other phenotypes such as somatoform disorders and social phobia is needed.

  9. Genetic evidence for contribution of human dispersal to the genetic diversity of EBA-175 in Plasmodium falciparum.

    Science.gov (United States)

    Yasukochi, Yoshiki; Naka, Izumi; Patarapotikul, Jintana; Hananantachai, Hathairad; Ohashi, Jun

    2015-08-01

    The 175-kDa erythrocyte binding antigen (EBA-175) of Plasmodium falciparum plays a crucial role in merozoite invasion into human erythrocytes. EBA-175 is believed to have been under diversifying selection; however, there have been no studies investigating the effect of dispersal of humans out of Africa on the genetic variation of EBA-175 in P. falciparum. The PCR-direct sequencing was performed for a part of the eba-175 gene (regions II and III) using DNA samples obtained from Thai patients infected with P. falciparum. The divergence times for the P. falciparum eba-175 alleles were estimated assuming that P. falciparum/Plasmodium reichenowi divergence occurred 6 million years ago (MYA). To examine the possibility of diversifying selection, nonsynonymous and synonymous substitution rates for Plasmodium species were also estimated. A total of 32 eba-175 alleles were identified from 131 Thai P. falciparum isolates. Their estimated divergence time was 0.13-0.14 MYA, before the exodus of humans from Africa. A phylogenetic tree for a large sequence dataset of P. falciparum eba-175 alleles from across the world showed the presence of a basal Asian-specific cluster for all P. falciparum sequences. A markedly more nonsynonymous substitutions than synonymous substitutions in region II in P. falciparum was also detected, but not within Plasmodium species parasitizing African apes, suggesting that diversifying selection has acted specifically on P. falciparum eba-175. Plasmodium falciparum eba-175 genetic diversity appeared to increase following the exodus of Asian ancestors from Africa. Diversifying selection may have played an important role in the diversification of eba-175 allelic lineages. The present results suggest that the dispersals of humans out of Africa influenced significantly the molecular evolution of P. falciparum EBA-175.

  10. Thelytokous parthenogenesis, male clonality and genetic caste determination in the little fire ant: new evidence and insights from the lab.

    Science.gov (United States)

    Foucaud, J; Estoup, A; Loiseau, A; Rey, O; Orivel, J

    2010-08-01

    Previous studies indicate that some populations of the little fire ant, Wasmannia auropunctata, display an unusual reproduction system polymorphism. Although some populations have a classical haplodiploid reproduction system, in other populations queens are produced by thelytokous parthenogenesis, males are produced by a male clonality system and workers are produced sexually. An atypical genetic caste determination system was also suggested. However, these conclusions were indirectly inferred from genetic studies on field population samples. Here we set up experimental laboratory nests that allow the control of the parental relationships between individuals. The queens heading those nests originated from either putatively clonal or sexual populations. We characterized the male, queen and worker offspring they produced at 12 microsatellite loci. Our results unambiguously confirm the unique reproduction system polymorphism mentioned above and that male clonality is strictly associated with thelytokous parthenogenesis. We also observed direct evidence of the rare production of sexual gynes and arrhenotokous males in clonal populations. Finally, we obtained evidence of a genetic basis for caste determination. The evolutionary significance of the reproduction system polymorphism and genetic caste determination as well as future research opportunities are discussed.

  11. Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease.

    Directory of Open Access Journals (Sweden)

    Lesley Jones

    Full Text Available BACKGROUND: Late Onset Alzheimer's disease (LOAD is the leading cause of dementia. Recent large genome-wide association studies (GWAS identified the first strongly supported LOAD susceptibility genes since the discovery of the involvement of APOE in the early 1990s. We have now exploited these GWAS datasets to uncover key LOAD pathophysiological processes. METHODOLOGY: We applied a recently developed tool for mining GWAS data for biologically meaningful information to a LOAD GWAS dataset. The principal findings were then tested in an independent GWAS dataset. PRINCIPAL FINDINGS: We found a significant overrepresentation of association signals in pathways related to cholesterol metabolism and the immune response in both of the two largest genome-wide association studies for LOAD. SIGNIFICANCE: Processes related to cholesterol metabolism and the innate immune response have previously been implicated by pathological and epidemiological studies of Alzheimer's disease, but it has been unclear whether those findings reflected primary aetiological events or consequences of the disease process. Our independent evidence from two large studies now demonstrates that these processes are aetiologically relevant, and suggests that they may be suitable targets for novel and existing therapeutic approaches.

  12. Evident?

    DEFF Research Database (Denmark)

    Plant, Peter

    2012-01-01

    Quality assurance and evidence in career guidance in Europe are often seen as self-evident approaches, but particular interests lie behind......Quality assurance and evidence in career guidance in Europe are often seen as self-evident approaches, but particular interests lie behind...

  13. Evidence to Support the Anti-Cancer Effect of Olive Leaf Extract and Future Directions.

    Science.gov (United States)

    Boss, Anna; Bishop, Karen S; Marlow, Gareth; Barnett, Matthew P G; Ferguson, Lynnette R

    2016-08-19

    The traditional Mediterranean diet (MD) is associated with long life and lower prevalence of cardiovascular disease and cancers. The main components of this diet include high intake of fruit, vegetables, red wine, extra virgin olive oil (EVOO) and fish, low intake of dairy and red meat. Olive oil has gained support as a key effector of health benefits and there is evidence that this relates to the polyphenol content. Olive leaf extract (OLE) contains a higher quantity and variety of polyphenols than those found in EVOO. There are also important structural differences between polyphenols from olive leaf and those from olive fruit that may improve the capacity of OLE to enhance health outcomes. Olive polyphenols have been claimed to play an important protective role in cancer and other inflammation-related diseases. Both inflammatory and cancer cell models have shown that olive leaf polyphenols are anti-inflammatory and protect against DNA damage initiated by free radicals. The various bioactive properties of olive leaf polyphenols are a plausible explanation for the inhibition of progression and development of cancers. The pathways and signaling cascades manipulated include the NF-κB inflammatory response and the oxidative stress response, but the effects of these bioactive components may also result from their action as a phytoestrogen. Due to the similar structure of the olive polyphenols to oestrogens, these have been hypothesized to interact with oestrogen receptors, thereby reducing the prevalence and progression of hormone related cancers. Evidence for the protective effect of olive polyphenols for cancer in humans remains anecdotal and clinical trials are required to substantiate these claims idea. This review aims to amalgamate the current literature regarding bioavailability and mechanisms involved in the potential anti-cancer action of olive leaf polyphenols.

  14. Further evidence supporting a role for gs signal transduction in severe malaria pathogenesis.

    Directory of Open Access Journals (Sweden)

    Sarah Auburn

    Full Text Available With the functional demonstration of a role in erythrocyte invasion by Plasmodium falciparum parasites, implications in the aetiology of common conditions that prevail in individuals of African origin, and a wealth of pharmacological knowledge, the stimulatory G protein (Gs signal transduction pathway presents an exciting target for anti-malarial drug intervention. Having previously demonstrated a role for the G-alpha-s gene, GNAS, in severe malaria disease, we sought to identify other important components of the Gs pathway. Using meta-analysis across case-control and family trio (affected child and parental controls studies of severe malaria from The Gambia and Malawi, we sought evidence of association in six Gs pathway candidate genes: adenosine receptor 2A (ADORA2A and 2B (ADORA2B, beta-adrenergic receptor kinase 1 (ADRBK1, adenylyl cyclase 9 (ADCY9, G protein beta subunit 3 (GNB3, and regulator of G protein signalling 2 (RGS2. Our study amassed a total of 2278 cases and 2364 controls. Allele-based models of association were investigated in all genes, and genotype and haplotype-based models were investigated where significant allelic associations were identified. Although no significant associations were observed in the other genes, several were identified in ADORA2A. The most significant association was observed at the rs9624472 locus, where the G allele (approximately 20% frequency appeared to confer enhanced risk to severe malaria [OR = 1.22 (1.09-1.37; P = 0.001]. Further investigation of the ADORA2A gene region is required to validate the associations identified here, and to identify and functionally characterize the responsible causal variant(s. Our results provide further evidence supporting a role of the Gs signal transduction pathway in the regulation of severe malaria, and request further exploration of this pathway in future studies.

  15. Evidence to Support the Anti-Cancer Effect of Olive Leaf Extract and Future Directions

    Directory of Open Access Journals (Sweden)

    Anna Boss

    2016-08-01

    Full Text Available The traditional Mediterranean diet (MD is associated with long life and lower prevalence of cardiovascular disease and cancers. The main components of this diet include high intake of fruit, vegetables, red wine, extra virgin olive oil (EVOO and fish, low intake of dairy and red meat. Olive oil has gained support as a key effector of health benefits and there is evidence that this relates to the polyphenol content. Olive leaf extract (OLE contains a higher quantity and variety of polyphenols than those found in EVOO. There are also important structural differences between polyphenols from olive leaf and those from olive fruit that may improve the capacity of OLE to enhance health outcomes. Olive polyphenols have been claimed to play an important protective role in cancer and other inflammation-related diseases. Both inflammatory and cancer cell models have shown that olive leaf polyphenols are anti-inflammatory and protect against DNA damage initiated by free radicals. The various bioactive properties of olive leaf polyphenols are a plausible explanation for the inhibition of progression and development of cancers. The pathways and signaling cascades manipulated include the NF-κB inflammatory response and the oxidative stress response, but the effects of these bioactive components may also result from their action as a phytoestrogen. Due to the similar structure of the olive polyphenols to oestrogens, these have been hypothesized to interact with oestrogen receptors, thereby reducing the prevalence and progression of hormone related cancers. Evidence for the protective effect of olive polyphenols for cancer in humans remains anecdotal and clinical trials are required to substantiate these claims idea. This review aims to amalgamate the current literature regarding bioavailability and mechanisms involved in the potential anti-cancer action of olive leaf polyphenols.

  16. Genetic evidence for a contribution of Native Americans to the early settlement of Rapa Nui (Easter Island

    Directory of Open Access Journals (Sweden)

    Erik Thorsby

    2016-10-01

    Full Text Available Available evidence strongly suggests that the first to settle on Rapa Nui were Polynesians arriving from the west around AD 1200-1253. There are, however, also signs of an early contact between Rapa Nui and South America, but genetic evidence of an early contribution of Native Americans to the peopling of Rapa Nui has until recently been lacking. In this review our own genetic studies of blood-derived DNA collected on Rapa Nui since 1971 are summarized. For the first time human molecular genetic data are obtained which strongly suggest that some Native Americans arrived early at Rapa Nui, probably as early as AD 1280-1495. Whether they sailed directly from South America to Rapa Nui on their own rafts or whether they came with Polynesians returning from visits to South America cannot be established by our studies, but the latter possibility may be the most likely given other evidence of early visits by Polynesians to South America. In any case, our data suggest that some Native Americans arrived Rapa Nui not long after its first settlement by Polynesians, but long before the island was discovered by Europeans in 1722. Native Americans may therefore have had an influence on the early human colonization of Rapa Nui and thus on its ecology.

  17. Evidence for the control of phytolith formation in Cucurbita fruits by the hard rind (Hr) genetic locus: Archaeological and ecological implications.

    Science.gov (United States)

    Piperno, Dolores R; Holst, Irene; Wessel-Beaver, Linda; Andres, Thomas C

    2002-08-06

    Many angiosperms, both monocotyledons and dicotyledons, heavily impregnate their vegetative and reproductive organs with solid particles of silicon dioxide (SiO(2)) known as opaline phytoliths. The underlying mechanisms accounting for the formation of phytoliths in plants are poorly understood, however. Using wild and domesticated species in the genus Cucurbita along with their F(1) and F(2) progeny, we have demonstrated that the production of large diagnostic phytoliths in fruit rinds exhibits a one-to-one correspondence to the lignification of these structures. We propose that phytolith formation in Cucurbita fruits is primarily determined by a dominant genetic locus, called hard rind (Hr), previously shown to code for lignin deposition. If true, this evidence represents a demonstration of genetic control over phytolith production in a dicotyledon and provides considerable support to hypotheses that silica phytoliths constitute another important system of mechanical defense in plants. Our research also identifies Hr as another single locus controlling more than one important phenotypic difference between wild and domesticated plants, and establishes rind tissue cell structure and hardness under the effects of Hr as an important determinant of phytolith morphology. When recovered from pre-Columbian archaeological sites, Cucurbita phytoliths represent genetically controlled fossil markers of exploitation and domestication in this important economic genus.

  18. Sex differences in the genetic risk for schizophrenia: history of the evidence for sex-specific and sex-dependent effects.

    Science.gov (United States)

    Goldstein, Jill M; Cherkerzian, Sara; Tsuang, Ming T; Petryshen, Tracey L

    2013-10-01

    Although there is a long history to examinations of sex differences in the familial (and specifically, genetic) transmission of schizophrenia, there have been few investigators who have systematically and rigorously studied this issue. This is true even in light of population and clinical studies identifying significant sex differences in incidence, expression, neuroanatomic and functional brain abnormalities, and course of schizophrenia. This review highlights the history of work in this arena from studies of family transmission patterns, linkage and twin studies to the current molecular genetic strategies of large genome-wide association studies. Taken as a whole, the evidence supports the presence of genetic risks of which some are sex-specific (i.e., presence in one sex and not the other) or sex-dependent (i.e., quantitative differences in risk between the sexes). Thus, a concerted effort to systematically investigate these questions is warranted and, as we argue here, necessary in order to fully understand the etiology of schizophrenia. © 2013 Wiley Periodicals, Inc.

  19. Genetic structure of populations of whale sharks among ocean basins and evidence for their historic rise and recent decline.

    Science.gov (United States)

    Vignaud, Thomas M; Maynard, Jeffrey A; Leblois, Raphael; Meekan, Mark G; Vázquez-Juárez, Ricardo; Ramírez-Macías, Dení; Pierce, Simon J; Rowat, David; Berumen, Michael L; Beeravolu, Champak; Baksay, Sandra; Planes, Serge

    2014-05-01

    This study presents genetic evidence that whale sharks, Rhincodon typus, are comprised of at least two populations that rarely mix and is the first to document a population expansion. Relatively high genetic structure is found when comparing sharks from the Gulf of Mexico with sharks from the Indo-Pacific. If mixing occurs between the Indian and Atlantic Oceans, it is not sufficient to counter genetic drift. This suggests whale sharks are not all part of a single global metapopulation. The significant population expansion we found was indicated by both microsatellite and mitochondrial DNA. The expansion may have happened during the Holocene, when tropical species could expand their range due to sea-level rise, eliminating dispersal barriers and increasing plankton productivity. However, the historic trend of population increase may have reversed recently. Declines in genetic diversity are found for 6 consecutive years at Ningaloo Reef in Australia. The declines in genetic diversity being seen now in Australia may be due to commercial-scale harvesting of whale sharks and collision with boats in past decades in other countries in the Indo-Pacific. The study findings have implications for models of population connectivity for whale sharks and advocate for continued focus on effective protection of the world's largest fish at multiple spatial scales.

  20. Genetic structure of populations of whale sharks among ocean basins and evidence for their historic rise and recent decline

    KAUST Repository

    Vignaud, Thomas M.

    2014-05-01

    This study presents genetic evidence that whale sharks, Rhincodon typus, are comprised of at least two populations that rarely mix and is the first to document a population expansion. Relatively high genetic structure is found when comparing sharks from the Gulf of Mexico with sharks from the Indo-Pacific. If mixing occurs between the Indian and Atlantic Oceans, it is not sufficient to counter genetic drift. This suggests whale sharks are not all part of a single global metapopulation. The significant population expansion we found was indicated by both microsatellite and mitochondrial DNA. The expansion may have happened during the Holocene, when tropical species could expand their range due to sea-level rise, eliminating dispersal barriers and increasing plankton productivity. However, the historic trend of population increase may have reversed recently. Declines in genetic diversity are found for 6 consecutive years at Ningaloo Reef in Australia. The declines in genetic diversity being seen now in Australia may be due to commercial-scale harvesting of whale sharks and collision with boats in past decades in other countries in the Indo-Pacific. The study findings have implications for models of population connectivity for whale sharks and advocate for continued focus on effective protection of the world\\'s largest fish at multiple spatial scales. © 2014 John Wiley & Sons Ltd.

  1. Genetic factors in Threatened Species Recovery Plans on three continents

    Science.gov (United States)

    Threatened species' recovery planning is applied globally to stem the current species extinction crisis. Evidence supports a key role of genetic processes, such as inbreeding depression, in determining species viability. We examined whether genetic factors are considered in threa...

  2. Evidence-based practice implementation: the impact of public versus private sector organization type on organizational support, provider attitudes, and adoption of evidence-based practice.

    Science.gov (United States)

    Aarons, Gregory A; Sommerfeld, David H; Walrath-Greene, Christine M

    2009-12-31

    The goal of this study is to extend research on evidence-based practice (EBP) implementation by examining the impact of organizational type (public versus private) and organizational support for EBP on provider attitudes toward EBP and EBP use. Both organization theory and theory of innovation uptake and individual adoption of EBP guide the approach and analyses in this study. We anticipated that private sector organizations would provide greater levels of organizational support for EBPs leading to more positive provider attitudes towards EBPs and EBP use. We also expected attitudes toward EBPs to mediate the association of organizational support and EBP use. Participants were mental health service providers from 17 communities in 16 states in the United States (n = 170). Path analyses were conducted to compare three theoretical models of the impact of organization type on organizational support for EBP and of organizational support on provider attitudes toward EBP and EBP use. Consistent with our predictions, private agencies provided greater support for EBP implementation, and staff working for private agencies reported more positive attitudes toward adopting EBPs. Organizational support for EBP partially mediated the association of organization type on provider attitudes toward EBP. Organizational support was significantly positively associated with attitudes toward EBP and EBP use in practice. This study offers further support for the importance of organizational context as an influence on organizational support for EBP and provider attitudes toward adopting EBP. The study demonstrates the role organizational support in provider use of EBP in practice. This study also suggests that organizational support for innovation is a malleable factor in supporting use of EBP. Greater attention should be paid to organizational influences that can facilitate the dissemination and implementation of EBPs in community settings.

  3. Evidence-based practice implementation: The impact of public versus private sector organization type on organizational support, provider attitudes, and adoption of evidence-based practice

    Directory of Open Access Journals (Sweden)

    Sommerfeld David H

    2009-12-01

    Full Text Available Abstract Background The goal of this study is to extend research on evidence-based practice (EBP implementation by examining the impact of organizational type (public versus private and organizational support for EBP on provider attitudes toward EBP and EBP use. Both organization theory and theory of innovation uptake and individual adoption of EBP guide the approach and analyses in this study. We anticipated that private sector organizations would provide greater levels of organizational support for EBPs leading to more positive provider attitudes towards EBPs and EBP use. We also expected attitudes toward EBPs to mediate the association of organizational support and EBP use. Methods Participants were mental health service providers from 17 communities in 16 states in the United States (n = 170. Path analyses were conducted to compare three theoretical models of the impact of organization type on organizational support for EBP and of organizational support on provider attitudes toward EBP and EBP use. Results Consistent with our predictions, private agencies provided greater support for EBP implementation, and staff working for private agencies reported more positive attitudes toward adopting EBPs. Organizational support for EBP partially mediated the association of organization type on provider attitudes toward EBP. Organizational support was significantly positively associated with attitudes toward EBP and EBP use in practice. Conclusion This study offers further support for the importance of organizational context as an influence on organizational support for EBP and provider attitudes toward adopting EBP. The study demonstrates the role organizational support in provider use of EBP in practice. This study also suggests that organizational support for innovation is a malleable factor in supporting use of EBP. Greater attention should be paid to organizational influences that can facilitate the dissemination and implementation of EBPs in

  4. Population-based public health interventions: practice-based and evidence-supported. Part I.

    Science.gov (United States)

    Keller, Linda Olson; Strohschein, Susan; Lia-Hoagberg, Betty; Schaffer, Marjorie A

    2004-01-01

    The Intervention Wheel is a population-based practice model that encompasses three levels of practice (community, systems, and individual/family) and 17 public health interventions. Each intervention and practice level contributes to improving population health. The Intervention Wheel, previously known as the Public Health Intervention Model, was originally introduced in 1998 by the Minnesota Department of Health, Section of Public Health Nursing. The model has been widely disseminated and used throughout the United States since that time. The evidence supporting the Intervention Wheel was recently subjected to a rigorous critique by regional and national experts. This critical process, which involved hundreds of public health nurses, resulted in a more robust Intervention Wheel and established the validity of the model. The critique also produced basic steps and best practices for each of the 17 interventions. Part I describes the Intervention Wheel, defines population-based practice, and details the recommended modifications and validation process. Part II provides examples of the innovative ways that the Intervention Wheel is being used in public health/public health nursing practice, education, and administration. The two articles provide a foundation and vision for population-based public health nursing practice and direction for improving population health.

  5. Historic evidence to support a causal relationship between spirochetal infections and Alzheimer’s disease

    Directory of Open Access Journals (Sweden)

    Judith eMiklossy

    2015-04-01

    Full Text Available Following previous observations a statistically significant association between various types of spirochetes and Alzheimer’s disease (AD fulfilled Hill’s criteria in favor of a causal relationship. If spirochetal infections can indeed cause AD, the pathological and biological hallmarks of AD should also occur in syphilitic dementia. To answer this question, observations and illustrations on the detection of spirochetes in the atrophic form of general paresis, which is known to be associated with slowly progressive dementia, were reviewed and compared with the characteristic pathology of AD. Historic observations and illustrations published in the first half of the 20th Century indeed confirm that the pathological hallmarks, which define AD, are also present in syphilitic dementia. Cortical spirochetal colonies are made up by innumerable tightly spiraled Treponema pallidum spirochetes, which are morphologically indistinguishable from senile plaques, using conventional light microscopy. Local brain amyloidosis also occurs in general paresis and, as in AD, corresponds to amyloid beta. These historic observations enable us to conclude that chronic spirochetal infections can cause dementia and reproduce the defining hallmarks of AD. They represent further evidence in support a causal relationship between various spirochetal infections and AD. They also indicate that local invasion of the brain by these helically shaped bacteria reproduce the filamentous pathology characteristic of AD. Chronic infection by spirochetes, and co-infection with other bacteria and viruses should be included in our current view on the etiology of AD. Prompt action is needed as AD might be prevented.

  6. Historic evidence to support a causal relationship between spirochetal infections and Alzheimer's disease.

    Science.gov (United States)

    Miklossy, Judith

    2015-01-01

    Following previous observations a statistically significant association between various types of spirochetes and Alzheimer's disease (AD) fulfilled Hill's criteria in favor of a causal relationship. If spirochetal infections can indeed cause AD, the pathological and biological hallmarks of AD should also occur in syphilitic dementia. To answer this question, observations and illustrations on the detection of spirochetes in the atrophic form of general paresis, which is known to be associated with slowly progressive dementia, were reviewed and compared with the characteristic pathology of AD. Historic observations and illustrations published in the first half of the 20th Century indeed confirm that the pathological hallmarks, which define AD, are also present in syphilitic dementia. Cortical spirochetal colonies are made up by innumerable tightly spiraled Treponema pallidum spirochetes, which are morphologically indistinguishable from senile plaques, using conventional light microscopy. Local brain amyloidosis also occurs in general paresis and, as in AD, corresponds to amyloid beta. These historic observations enable us to conclude that chronic spirochetal infections can cause dementia and reproduce the defining hallmarks of AD. They represent further evidence in support a causal relationship between various spirochetal infections and AD. They also indicate that local invasion of the brain by these helically shaped bacteria reproduce the filamentous pathology characteristic of AD. Chronic infection by spirochetes, and co-infection with other bacteria and viruses should be included in our current view on the etiology of AD. Prompt action is needed as AD might be prevented.

  7. Providing Evidence-Based, Intelligent Support for Flood Resilient Planning and Policy: The PEARL Knowledge Base

    Directory of Open Access Journals (Sweden)

    George Karavokiros

    2016-09-01

    Full Text Available While flood risk is evolving as one of the most imminent natural hazards and the shift from a reactive decision environment to a proactive one sets the basis of the latest thinking in flood management, the need to equip decision makers with necessary tools to think about and intelligently select options and strategies for flood management is becoming ever more pressing. Within this context, the Preparing for Extreme and Rare Events in Coastal Regions (PEARL intelligent knowledge-base (PEARL KB of resilience strategies is presented here as an environment that allows end-users to navigate from their observed problem to a selection of possible options and interventions worth considering within an intuitive visual web interface assisting advanced interactivity. Incorporation of real case studies within the PEARL KB enables the extraction of (evidence-based lessons from all over the word, while the KB’s collection of methods and tools directly supports the optimal selection of suitable interventions. The Knowledge-Base also gives access to the PEARL KB Flood Resilience Index (FRI tool, which is an online tool for resilience assessment at a city level available to authorities and citizens. We argue that the PEARL KB equips authorities with tangible and operational tools that can improve strategic and operational flood risk management by assessing and eventually increasing resilience, while building towards the strengthening of risk governance. The online tools that the PEARL KB gives access to were demonstrated and tested in the city of Rethymno, Greece.

  8. Confirmatory factor analysis for the Eating Disorder Examination Questionnaire: Evidence supporting a three-factor model.

    Science.gov (United States)

    Barnes, Jennifer; Prescott, Tim; Muncer, Steven

    2012-12-01

    The purpose of this investigation was to compare the goodness-of-fit of a one factor model with the four factor model proposed by Fairburn (2008) and the three factor model proposed by Peterson and colleagues (2007) for the Eating Disorder Examination Questionnaire (EDE-Q 6.0) (Fairburn and Beglin, 1994). Using a cross-sectional design, the EDE-Q was completed by 569 adults recruited from universities and eating disorder charities in the UK. Confirmatory factor analysis (CFA) was carried out for both the student and non-student groups. CFA indicated that Peterson et al.'s (2007) three factor model was the best fit for both groups within the current data sample. Acceptable levels of internal reliability were observed and there was clear evidence for a hierarchical factor of eating disorder. The results of this study provide support for the three factor model of the EDE-Q suggested by Peterson and colleagues (2007) in that this model was appropriate for both the student and non-student sample populations. Copyright © 2012 Elsevier Ltd. All rights reserved.

  9. Evidence of Genetic Differentiation for Hawaii Insular False Killer Whales (Pseudorca crassidens)

    Science.gov (United States)

    2010-05-01

    USA 9Departamento de Biologia Marine, UABCS, AP 19-B La Paz, BSC Mexico CP 23081 10Charles Darwin University, Arafura Timor Research Facility...sample collection and preservation for genetic analyses. In Molecular Genetics of Marine Mammals. Edited by A.E. Dizon, S.J. Chivers, W.F. Perrin...Oncorhynchus keta) across the Pacific Rim, determined from microsatellite analysis. Fish. Bull. 107:244-260. Berry, A., and Kreitman, M. 1993. Molecular

  10. Behavioral and genetic evidence for a novel animal model of Attention-Deficit/Hyperactivity Disorder Predominantly Inattentive Subtype

    Directory of Open Access Journals (Sweden)

    Zhang-James Y

    2008-12-01

    genomic differences between the WKY/NCrl and WKY/NHsd rats for eight short tandem repeat loci and 2625 SNPs. About 33.5 percent of the genome differs between the two WKY rat substrains, with large stretches of divergence on each chromosome. Discussion These data provide solid behavioral and genetic evidence that the WKY/NCrl and WKY/NHsd rats should be considered as separate substrains. Moreover, the behavioral features of the WKY/NCrl rat indicate that it should be a useful model for ADHD-PI, the primarily inattentive subtype of ADHD. The SD/NTac and the WH/HanTac rats show significant genetic and/or behavioral differences from WKY/NHsd rats and appear not to be appropriate controls in studies using the SHR/NCrl. The present results support the conclusion that SHR/NCrl is the best validated animal model of ADHD-C. The overactivity, impulsiveness and deficient sustained attention of the SHR/NCrl strain are independent behaviors. Thus, overactivity does not account for this strain's impulsiveness and deficient sustained attention. Finally, the present study shows that great care has to be exercised to select the model and comparison groups.

  11. Glacial Refugia of Ginkgo biloba and Human Impact on Its Genetic Diversity: Evidence from Chloroplast DNA

    Institute of Scientific and Technical Information of China (English)

    Wei Gong; Zhen Zeng; Ye-Ye Chen; Chuan Chen; Ying-Xiong Qiu; Cheng-Xin Fu

    2008-01-01

    Variations in the trnK region of chloroplast DNA were investigated in the present study using polymerase chain reaction-restriction fragment length polymorphism to detect the genetic structure and to infer the possible glacial refugia of Ginkgo biloba L. in China. In total, 220 individuals from 12 populations in China and three populations outside China were analyzed, representing the largest number of populations studied by molecular markers to date. Nineteen haplotypes were produced and haplotype A was found in all populations. Populations in south-western China, including WC, JF, PX, and SP, contained 14 of the 19 haplotypes and their genetic diversity ranged from 0.771 4 to 0.867 6. The TM population from China also showed a high genetic diversity (H=0.848 5). Most of the genetic variation existed within populations and the differentiation among populations was low (GST>=0.2). According to haplotype distribution and the historical record, we suggest that populations of G. biloba have been subjected to extensive human impact, which has compounded our attempt to infer glacial refugia for Ginkgo. Nevertheless, the present results suggest that the center of genetic diversity of Ginkgo is mainly in south-western China and in situ conservation is needed to protect and preserve the genetic resources.

  12. Application of genetic algorithms to the adjustment of the supports of fuzzy sets in a mamdani controller

    Directory of Open Access Journals (Sweden)

    M.M. Mazzucco

    2000-12-01

    Full Text Available The development of control systems based on fuzzy rules facilitates the solving of problems when insufficient phenomenological information is available. The most common way of grouping fuzzy rules to form a controller is known as Mamdani controller. This controller consists of a set of rules with two premises, the error and the error variation, and one conclusion, the control action variation. One of the most delicate phases of the project of fuzzy systems is the definition of the supports (range of each fuzzy qualifiers. This work apply genetic algorithms, together with some model of the system, to the adjustment of the supports of the fuzzy sets used in a Mamdani controller. The results show that the automatic adjustment is faster and more efficient that the manual one. Finally, the results are compared with a PID that was also adjusted with genetic algorithms.

  13. Estimates of genetic parameters for growth and wood properties in Eucalyptus pellita F. Muell. to support tree breeding in Vietnam

    OpenAIRE

    Hung, Tran D.; Brawner, Jeremy T.; Meder, Roger; Lee, David J.; Southerton, Simon; Thinh, Ha H.; Dieters, Mark J.

    2015-01-01

    International audience; AbstractKey messageEucalyptus pellitademonstrated good growth and wood quality traits in this study, with young plantation grown timber being suitable for both solid and pulp wood products. All traits examined were under moderate levels of genetic control with little genotype by environment interaction when grown on two contrasting sites in Vietnam.ContextEucalyptus pellita currently has a significant role in reforestation in the tropics. Research to support expanded o...

  14. Managing symptoms during cancer treatments: evaluating the implementation of evidence-informed remote support protocols

    Directory of Open Access Journals (Sweden)

    Stacey Dawn

    2012-11-01

    Full Text Available Abstract Background Management of cancer treatment-related symptoms is an important safety issue given that symptoms can become life-threatening and often occur when patients are at home. With funding from the Canadian Partnership Against Cancer, a pan-Canadian steering committee was established with representation from eight provinces to develop symptom protocols using a rigorous methodology (CAN-IMPLEMENT©. Each protocol is based on a systematic review of the literature to identify relevant clinical practice guidelines. Protocols were validated by cancer nurses from across Canada. The aim of this study is to build an effective and sustainable approach for implementing evidence-informed protocols for nurses to use when providing remote symptom assessment, triage, and guidance in self-management for patients experiencing symptoms while undergoing cancer treatments. Methods A prospective mixed-methods study design will be used. Guided by the Knowledge to Action Framework, the study will involve (a establishing an advisory knowledge user team in each of three targeted settings; (b assessing factors influencing nurses’ use of protocols using interviews/focus groups and a standardized survey instrument; (c adapting protocols for local use, ensuring fidelity of the content; (d selecting intervention strategies to overcome known barriers and implementing the protocols; (e conducting think-aloud usability testing; (f evaluating protocol use and outcomes by conducting an audit of 100 randomly selected charts at each of the three settings; and (g assessing satisfaction with remote support using symptom protocols and change in nurses’ barriers to use using survey instruments. The primary outcome is sustained use of the protocols, defined as use in 75% of the calls. Descriptive analysis will be conducted for the barriers, use of protocols, and chart audit outcomes. Content analysis will be conducted on interviews/focus groups and usability testing

  15. Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

    Science.gov (United States)

    Boes, Eva; Coassin, Stefan; Kollerits, Barbara; Heid, Iris M; Kronenberg, Florian

    2009-03-01

    High-density lipoprotein (HDL) particles exhibit multiple antiatherogenic effects. They are key players in the reverse cholesterol transport which shuttles cholesterol from peripheral cells (e.g. macrophages) to the liver or other tissues. This complex process is thought to represent the basis for the antiatherogenic properties of HDL particles. The amount of cholesterol transported in HDL particles is measured as HDL cholesterol (HDLC) and is inversely correlated with the risk for coronary artery disease: an increase of 1mg/dL of HDLC levels is associated with a 2% and 3% decrease of the risk for coronary artery disease in men and women, respectively. Genetically determined conditions with high HDLC levels (e.g. familial hyperalphalipoproteinemia) often coexist with longevity, and higher HDLC levels were found among healthy elderly individuals. HDLC levels are under considerable genetic control with heritability estimates of up to 80%. The identification and characterization of genetic variants associated with HDLC concentrations can provide new insights into the background of longevity. This review provides an extended overview on the current genetic-epidemiological evidence from association studies on genes involved in HDLC metabolism. It provides a path through the jungle of association studies which are sometimes confusing due to the varying and sometimes erroneous names of genetic variants, positions and directions of associations. Furthermore, it reviews the recent findings from genome-wide association studies which have identified new genes influencing HDLC levels. The yet identified genes together explain only a small amount of less than 10% of the HDLC variance, which leaves an enormous room for further yet to be identified genetic variants. This might be accomplished by large population-based genome-wide meta-analyses and by deep-sequencing approaches on the identified genes. The resulting findings will probably result in a re-drawing and extension of

  16. Topology of genetic associations between regional gray matter volume and intellectual ability: Evidence for a high capacity network.

    Science.gov (United States)

    Bohlken, Marc M; Brouwer, Rachel M; Mandl, René C W; Hedman, Anna M; van den Heuvel, Martijn P; van Haren, Neeltje E M; Kahn, René S; Pol, Hilleke E Hulshoff

    2016-01-01

    Intelligence is associated with a network of distributed gray matter areas including the frontal and parietal higher association cortices and primary processing areas of the temporal and occipital lobes. Efficient information transfer between gray matter regions implicated in intelligence is thought to be critical for this trait to emerge. Genetic factors implicated in intelligence and gray matter may promote a high capacity for information transfer. Whether these genetic factors act globally or on local gray matter areas separately is not known. Brain maps of phenotypic and genetic associations between gray matter volume and intelligence were made using structural equation modeling of 3T MRI T1-weighted scans acquired in 167 adult twins of the newly acquired U-TWIN cohort. Subsequently, structural connectivity analyses (DTI) were performed to test the hypothesis that gray matter regions associated with intellectual ability form a densely connected core. Gray matter regions associated with intellectual ability were situated in the right prefrontal, bilateral temporal, bilateral parietal, right occipital and subcortical regions. Regions implicated in intelligence had high structural connectivity density compared to 10,000 reference networks (p=0.031). The genetic association with intelligence was for 39% explained by a genetic source unique to these regions (independent of total brain volume), this source specifically implicated the right supramarginal gyrus. Using a twin design, we show that intelligence is genetically represented in a spatially distributed and densely connected network of gray matter regions providing a high capacity infrastructure. Although genes for intelligence have overlap with those for total brain volume, we present evidence that there are genes for intelligence that act specifically on the subset of brain areas that form an efficient brain network.

  17. Current evidence for a modulation of low back pain by human genetic variants.

    Science.gov (United States)

    Tegeder, Irmgard; Lötsch, Jörn

    2009-08-01

    The manifestation of chronic back pain depends on structural, psychosocial, occupational and genetic influences. Heritability estimates for back pain range from 30% to 45%. Genetic influences are caused by genes affecting intervertebral disc degeneration or the immune response and genes involved in pain perception, signalling and psychological processing. This inter-individual variability which is partly due to genetic differences would require an individualized pain management to prevent the transition from acute to chronic back pain or improve the outcome. The genetic profile may help to define patients at high risk for chronic pain. We summarize genetic factors that (i) impact on intervertebral disc stability, namely Collagen IX, COL9A3, COL11A1, COL11A2, COL1A1, aggrecan (AGAN), cartilage intermediate layer protein, vitamin D receptor, metalloproteinsase-3 (MMP3), MMP9, and thrombospondin-2, (ii) modify inflammation, namely interleukin-1 (IL-1) locus genes and IL-6 and (iii) and pain signalling namely guanine triphosphate (GTP) cyclohydrolase 1, catechol-O-methyltransferase, mu opioid receptor (OPMR1), melanocortin 1 receptor (MC1R), transient receptor potential channel A1 and fatty acid amide hydrolase and analgesic drug metabolism (cytochrome P450 [CYP]2D6, CYP2C9).

  18. Medical School Librarians Need More Training to Support their Involvement in Evidence Based Medicine Curricula

    Directory of Open Access Journals (Sweden)

    Aislinn Conway

    2016-04-01

    Full Text Available Objective – To describe the self-perceived role of librarians in developing evidence based medicine (EBM curricula and identify their current and desired level of training to support these activities. Design – Multi-institutional qualitative study. Setting – Nine medical schools in Canada and the United States of America. Subjects – Nine librarians identified by medical school faculty as central to the provision of EBM training for medical students at their institution. Methods – The researchers designed a semi-structured interview schedule based on a review of the literature and their own experiences as librarians teaching EBM. The topics covered were; librarians’ perceptions of their roles in relation to the curriculum, the training required to enable them to undertake these roles, and their professional development needs. The interviews were conducted by telephone and then audio-recorded and transcribed verbatim. The authors present five main themes; curricular design, curricular deployment, curricular assessment, educational training, and professional development. Profiles were developed for each participant based on the latter two themes and from this information common characteristics were identified. Main Results – The participants described the importance of collaboration with faculty and student bodies when designing a curriculum. Information literacy instruction and specifically literature searching and forming a research question were taught by all of the participants to facilitate curricular deployment. Some of the librarians were involved or partly involved in curricular assessment activities such as formulating exam questions or providing feedback on assignments. Educational training of participants varied from informal observation to formal workshops offered by higher education institutions. All librarians indicated a willingness to partake in professional development focused on teaching and EBM. The subjects

  19. 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...

  20. Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity

    Science.gov (United States)

    Tucci, Arianna; Kara, Eleanna; Schossig, Anna; Wolf, Nicole I.; Plagnol, Vincent; Fawcett, Katherine; Paisán-Ruiz, Coro; Moore, Matthew; Hernandez, Dena; Musumeci, Sebastiano; Tennison, Michael; Hennekam, Raoul; Palmeri, Silvia; Malandrini, Alessandro; Raskin, Salmo; Donnai, Dian; Hennig, Corina; Tzschach, Andreas; Hordijk, Roel; Bast, Thomas; Wimmer, Katharina; Lo, Chien-Ning; Shorvon, Simon; Mefford, Heather; Eichler, Evan E.; Hall, Roger; Hayes, Ian; Hardy, John; Singleton, Andrew; Zschocke, Johannes; Houlden, Henry

    2013-01-01

    Kohlschütter–Tönz syndrome (KTS) is a rare autosomal recessive disorder characterized by amelogenesis imperfecta, psychomotor delay or regression and seizures starting early in childhood. KTS was established as a distinct clinical entity after the first report by Kohlschütter in 1974, and to date, only a total of 20 pedigrees have been reported. The genetic etiology of KTS remained elusive until recently when mutations in ROGDI were independently identified in three unrelated families and in five likely related Druze families. Herein, we report a clinical and genetic study of 10 KTS families. By using a combination of whole exome sequencing, linkage analysis, and Sanger sequencing, we identify novel homozygous or compound heterozygous ROGDI mutations in five families, all presenting with a typical KTS phenotype. The other families, mostly presenting with additional atypical features, were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the disease. PMID:23086778

  1. New sedimentological evidence supporting a catastrophic meltwater discharge event along the Beaufort margin, Arctic Ocean

    Science.gov (United States)

    Klotsko, S.; Driscoll, N. W.; Keigwin, L. D.; Mendenhall, B.

    2015-12-01

    In 2013, a cruise on the USCGC Healy mapped the Beaufort margin from Barrow, AK into the Amundsen Gulf using a towed CHIRP subbottom profiler and a hull-mounted Knudsen CHIRP subbottom profiler to study the deglaciation of the margin. Sediment cores were also acquired. New grain size analyses for three sediment cores will be presented. These records help constrain the flooding events captured in the existing grain size data from JPC 15, just east of the Mackenzie trough. This core shows evidence of multiple ice rafted debris events that were likely sourced from the retreat of the Amundsen ice stream. These layers have peaks in grain size around ~20 microns compared to the ~5 micron average for the rest of the core. The grain size peaks correlate to the high amplitude reflectors observed in the seismic CHIRP data. Similar reflectors are observed in the seismic data from two of the new core locations, one in the Mackenzie trough and one east of the trough. The seismic data from these stations also record a thick sediment package that is ~7 meters thick at its depocenter. This layer is interpreted to record a massive meltwater discharge event that entered the Arctic via the Mackenzie River. Oxygen isotope data from JPC 15 support an event at this location based on the covarying benthic and planktonic records. In our conceptual model, the pulses of freshwater from the Amundsen Gulf likely freshened the margin sufficiently that the major discharge event was then able to push the system over the edge. This catastrophic glacial lake draining out the Mackenzie River into the Beaufort Sea and export out of the Arctic into the North Atlantic caused diminished meridional overturning circulation - slowing of the conveyor belt thermohaline circulation - which, in turn, potentially caused the Younger Dryas cold period.

  2. Evidence-informed health policy 1 – Synthesis of findings from a multi-method study of organizations that support the use of research evidence

    Directory of Open Access Journals (Sweden)

    Moynihan Ray

    2008-12-01

    Full Text Available Abstract Background Organizations have been established in many countries and internationally to support the use of research evidence by producing clinical practice guidelines, undertaking health technology assessments, and/or directly supporting the use of research evidence in developing health policy on an international, national, and state or provincial level. Learning from these organizations can reduce the need to 'reinvent the wheel' and inform decisions about how best to organize support for such organizations, particularly in low- and middle-income countries (LMICs. Methods We undertook a multi-method study in three phases – a survey, interviews, and case descriptions that drew on site visits – and in each of the second and third phases we focused on a purposive sample of those involved in the previous phase. We used the seven main recommendations that emerged from the advice offered in the interviews to organize much of the synthesis of findings across phases and methods. We used a constant comparative method to identify themes from across phases and methods. Results Seven recommendations emerged for those involved in establishing or leading organizations that support the use of research evidence in developing health policy: 1 collaborate with other organizations; 2 establish strong links with policymakers and involve stakeholders in the work; 3 be independent and manage conflicts of interest among those involved in the work; 4 build capacity among those working in the organization; 5 use good methods and be transparent in the work; 6 start small, have a clear audience and scope, and address important questions; and 7 be attentive to implementation considerations, even if implementation is not a remit. Four recommendations emerged for the World Health Organization (WHO and other international organizations and networks: 1 support collaborations among organizations; 2 support local adaptation efforts; 3 mobilize support; and 4 create

  3. Genetic evidence of peripheral isolation and low diversity in marginal populations of the Acropora hyacinthus complex

    Science.gov (United States)

    Suzuki, Go; Keshavmurthy, Shashank; Hayashibara, Takeshi; Wallace, Carden C.; Shirayama, Yoshihisa; Chen, Chaolun Allen; Fukami, Hironobu

    2016-12-01

    Zooxanthellate corals are found throughout the tropics, but also extend into subtropical and marginal locations due to the presence of warm ocean currents. The population history of corals in marginal locations is of great interest in relation to changing global climatic conditions, as species edge zones might play an important role in evolutionary innovation. Here, we examine the genetic structure of a widely distributed coral species complex, Acropora hyacinthus, from tropical to high subtropical regions along the Kuroshio Current in Taiwan and Japan. Population genetic analysis of 307 specimens from 18 locations (7 reefal and 11 marginal) identified at least four genetic lineages within the A. hyacinthus complex: HyaA, HyaB, HyaC (dominating reefal locations) and HyaD dominating marginal locations in mainland Japan and Taiwan, except the upper Penghu Islands, which were dominated by HyaC. Crossing experiments suggested semi-incompatibility and hybridization between HyaC and D from reefal locations, implying that the existence of hybridization partners enhances diversification and genetic diversity. An incomplete barrier between the HyaC and HyaD dominations was found along the two straits in the Ryukyu Islands, where Kuroshio Current flows constantly. Despite geographical distance, the genetic composition of populations in mainland Japan was comparable to that in mainland Taiwan, which may reflect a region-specific connectivity around the northern limit of A. hyacinthus in the Pacific. In contrast, populations in the Ryukyu Islands were not significantly different from those of Palau and the Great Barrier Reef. While the precise taxonomic nature of the lineages found around the Kuroshio Current remains to be elucidated, these results indicate that, despite the presence of four lineages in the Kuroshio triangle, low genetic diversity populations of the two main lines might be isolating and differentiating in the marginal region.

  4. Evidence of phenotypic and genetic relationships between sociality, emotional reactivity and production traits in Japanese quail.

    Directory of Open Access Journals (Sweden)

    Julien Recoquillay

    Full Text Available The social behavior of animals, which is partially controlled by genetics, is one of the factors involved in their adaptation to large breeding groups. To understand better the relationships between different social behaviors, fear behaviors and production traits, we analyzed the phenotypic and genetic correlations of these traits in Japanese quail by a second generation crossing of two lines divergently selected for their social reinstatement behavior. Analyses of results for 900 individuals showed that the phenotypic correlations between behavioral traits were low with the exception of significant correlations between sexual behavior and aggressive pecks both at phenotypic (0.51 and genetic (0.90 levels. Significant positive genetic correlations were observed between emotional reactivity toward a novel object and sexual (0.89 or aggressive (0.63 behaviors. The other genetic correlations were observed mainly between behavioral and production traits. Thus, the level of emotional reactivity, estimated by the duration of tonic immobility, was positively correlated with weight at 17 and 65 days of age (0.76 and 0.79, respectively and with delayed egg laying onset (0.74. In contrast, a higher level of social reinstatement behavior was associated with an earlier egg laying onset (-0.71. In addition, a strong sexual motivation was correlated with an earlier laying onset (-0.68 and a higher number of eggs laid (0.82. A low level of emotional reactivity toward a novel object and also a higher aggressive behavior were genetically correlated with a higher number of eggs laid (0.61 and 0.58, respectively. These results bring new insights into the complex determinism of social and emotional reactivity behaviors in birds and their relationships with production traits. Furthermore, they highlight the need to combine animal welfare and production traits in selection programs by taking into account traits of sociability and emotional reactivity.

  5. Molecular and physiological evidence of genetic assimilation to high CO2 in the marine nitrogen fixer Trichodesmium.

    Science.gov (United States)

    Walworth, Nathan G; Lee, Michael D; Fu, Fei-Xue; Hutchins, David A; Webb, Eric A

    2016-11-22

    Most investigations of biogeochemically important microbes have focused on plastic (short-term) phenotypic responses in the absence of genetic change, whereas few have investigated adaptive (long-term) responses. However, no studies to date have investigated the molecular progression underlying the transition from plasticity to adaptation under elevated CO2 for a marine nitrogen-fixer. To address this gap, we cultured the globally important cyanobacterium Trichodesmium at both low and high CO2 for 4.5 y, followed by reciprocal transplantation experiments to test for adaptation. Intriguingly, fitness actually increased in all high-CO2 adapted cell lines in the ancestral environment upon reciprocal transplantation. By leveraging coordinated phenotypic and transcriptomic profiles, we identified expression changes and pathway enrichments that rapidly responded to elevated CO2 and were maintained upon adaptation, providing strong evidence for genetic assimilation. These candidate genes and pathways included those involved in photosystems, transcriptional regulation, cell signaling, carbon/nitrogen storage, and energy metabolism. Conversely, significant changes in specific sigma factor expression were only observed upon adaptation. These data reveal genetic assimilation as a potentially adaptive response of Trichodesmium and importantly elucidate underlying metabolic pathways paralleling the fixation of the plastic phenotype upon adaptation, thereby contributing to the few available data demonstrating genetic assimilation in microbial photoautotrophs. These molecular insights are thus critical for identifying pathways under selection as drivers in plasticity and adaptation.

  6. Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women

    DEFF Research Database (Denmark)

    Mehta, Divya; Tropf, Felix C; Gratten, Jacob

    2016-01-01

    to psychosocial factors associated with parental age or if those at higher risk for SCZ tend to have children at an earlier or later age. OBJECTIVE: To determine if there is a genetic association between SCZ and age at first birth (AFB) using genetically informative but independently ascertained data sets. DESIGN......, SETTING, AND PARTICIPANTS: This investigation used multiple independent genome-wide association study data sets. The SCZ sample comprised 18 957 SCZ cases and 22 673 controls in a genome-wide association study from the second phase of the Psychiatric Genomics Consortium, and the AFB sample comprised 12...

  7. Diversity, genetic structure and evidence of outcrossing in British populations of the rock fern Adiantum capillus-veneris using microsatellites.

    Science.gov (United States)

    Pryor, K V; Young, J E; Rumsey, F J; Edwards, K J; Bruford, M W; Rogers, H J

    2001-08-01

    Microsatellites were isolated and a marker system was developed in the fern Adiantum capillus-veneris. Polymorphic markers were then used to study the genetic diversity and structure of populations within the UK and Ireland where this species grows at the northern edge of its range, requiring a specific rock habitat and limited to a few scattered populations. Three dinucleotide loci detected a high level of diversity (23 alleles and 28 multilocus genotypes) across the UK and Ireland, with nearly all variation partitioned among rather than within populations. Of 17 populations represented by multiple samples, all except four were monomorphic. Heterozygosity was detected in three populations, all within Glamorgan, Wales (UK), showing evidence of outcrossing. We make inferences on the factors determining the observed levels and patterns of genetic variation and the possible evolutionary history of the populations.

  8. Behavioral and Genetic Evidence for GIRK Channels in the CNS: Role in Physiology, Pathophysiology, and Drug Addiction.

    Science.gov (United States)

    Mayfield, Jody; Blednov, Yuri A; Harris, R Adron

    2015-01-01

    G protein-coupled inwardly rectifying potassium (GIRK) channels are widely expressed throughout the brain and mediate the inhibitory effects of many neurotransmitters. As a result, these channels are important for normal CNS function and have also been implicated in Down syndrome, Parkinson's disease, psychiatric disorders, epilepsy, and drug addiction. Knockout mouse models have provided extensive insight into the significance of GIRK channels under these conditions. This review examines the behavioral and genetic evidence from animal models and genetic association studies in humans linking GIRK channels with CNS disorders. We further explore the possibility that subunit-selective modulators and other advanced research tools will be instrumental in establishing the role of individual GIRK subunits in drug addiction and other relevant CNS diseases and in potentially advancing treatment options for these disorders. © 2015 Elsevier Inc. All rights reserved.

  9. Molecular genetic studies of natives on Easter Island: evidence of an early European and Amerindian contribution to the Polynesian gene pool.

    Science.gov (United States)

    Lie, B A; Dupuy, B M; Spurkland, A; Fernández-Viña, M A; Hagelberg, E; Thorsby, E

    2007-01-01

    Most archaeological and linguistic evidence suggest a Polynesian origin of the population of Easter Island (Rapanui), and this view has been supported by the identification of Polynesian mitochondrial DNA (mtDNA) polymorphisms in prehistoric skeletal remains. However, some evidence of an early South American contact also exists (the sweet potato, bottle gourd etc.), but genetic studies have so far failed to show an early Amerindian contribution to the gene pool on Easter Island. To address this issue, we analyzed mtDNA and Y chromosome markers and performed high-resolution human leukocyte antigen (HLA) genotyping of DNA harvested from previously collected sera of 48 reputedly nonadmixed native Easter Islanders. All individuals carried mtDNA types and HLA alleles previously found in Polynesia, and most men carried Y chromosome markers of Polynesian origin, providing further evidence of a Polynesian origin of the population of Easter Island. A few individuals carried HLA alleles and/or Y chromosome markers of European origin. More interestingly, some individuals carried the HLA alleles A*0212 and B*3905, which are of typical Amerindian origin. The genealogy of some of the individuals carrying these non-Polynesian HLA alleles and their haplotypic backgrounds suggest an introduction into Easter Island in the early 1800s, or earlier. Thus, there may have been an early European and Amerindian contribution to the Polynesian gene pool of Easter Island.

  10. Supporting Evidence-Informed Teaching in Biomedical and Health Professions Education Through Knowledge Translation: An Interdisciplinary Literature Review.

    Science.gov (United States)

    Tractenberg, Rochelle E; Gordon, Morris

    2017-01-01

    Phenomenon: The purpose of "systematic" reviews/reviewers of medical and health professions educational research is to identify best practices. This qualitative article explores the question of whether systematic reviews can support "evidence informed" teaching and contrasts traditional systematic reviewing with a knowledge translation (KT) approach to this objective. Degrees of freedom analysis (DOFA) is used to examine the alignment of systematic review methods with educational research and the pedagogical strategies and approaches that might be considered with a decision-making framework developed to support valid assessment. This method is also used to explore how KT can be used to inform teaching and learning. The nature of educational research is not compatible with most (11/14) methods for systematic review. The inconsistency of systematic reviewing with the nature of educational research impedes both the identification and implementation of "best-evidence" pedagogy and teaching. This is primarily because research questions that do support the purposes of review do not support educational decision making. By contrast to systematic reviews of the literature, both a DOFA and KT are fully compatible with informing teaching using evidence. A DOFA supports the translation of theory to a specific teaching or learning case, so could be considered a type of KT. The DOFA results in a test of alignment of decision options with relevant educational theory, and KT leads to interventions in teaching or learning that can be evaluated. Examples of how to structure evaluable interventions are derived from a KT approach that are simply not available from a systematic review. Insights: Systematic reviewing of current empirical educational research is not suitable for deriving or supporting best practices in education. However, both "evidence-informed" and scholarly approaches to teaching can be supported as KT projects, which are inherently evaluable and can generate

  11. Evidence-based psychiatric genetics, AKA the false dichotomy between common and rare variant hypotheses

    NARCIS (Netherlands)

    Visscher, P. M.; Goddard, M. E.; Derks, E. M.; Wray, N. R.

    2012-01-01

    In this article, we review some of the data that contribute to our understanding of the genetic architecture of psychiatric disorders. These include results from evolutionary modelling (hence no data), the observed recurrence risk to relatives and data from molecular markers. We briefly discuss the

  12. Three genetically divergent lineages of the Oryx in eastern Africa: Evidence for an ancient introgressive hybridization

    DEFF Research Database (Denmark)

    Masembe, Charles; Muwanika, Vincent B.; Nyakaana, Silvester;

    2006-01-01

    Phylogeographic and population genetic studies using sequence information are frequently used to infer species boundaries and history; and to assess hybridization and population level processes. In this study, partial mitochondrial DNA (mtDNA) control region (423 bp) and cytochrome b sequences (666...

  13. Aggressive Behavior between Siblings and the Development of Externalizing Problems: Evidence from a Genetically Sensitive Study

    Science.gov (United States)

    Natsuaki, Misaki N.; Ge, Xiaojia; Reiss, David; Neiderhiser, Jenae M.

    2009-01-01

    This study investigated the prospective links between sibling aggression and the development of externalizing problems using a multilevel modeling approach with a genetically sensitive design. The sample consisted of 780 adolescents (390 sibling pairs) who participated in 2 waves of the Nonshared Environment in Adolescent Development project.…

  14. Genetic and environmental stability in attention problems across the lifespan: evidence from the Netherlands Twin Register

    NARCIS (Netherlands)

    Kan, K.J.; Dolan, C.V.; Nivard, M.G.; Middeldorp, C.M.; van Beijsterveldt, C.E.M.; Willemsen, G.; Boomsma, D.I.

    2013-01-01

    Objective: To review findings on attention-deficit/hyperactivity disorder and attention problems (AP) in children, adolescents, and adults, as established in the database of the Netherlands Twin Register and increase the understanding of stability in AP across the lifespan as a function of genetic a

  15. DNA evidence for strong genetic stability and increasing heritability of intelligence from age 7 to 12.

    Science.gov (United States)

    Trzaskowski, M; Yang, J; Visscher, P M; Plomin, R

    2014-03-01

    Two genetic findings from twin research have far-reaching implications for understanding individual differences in the development of brain function as indexed by general cognitive ability (g, aka intelligence): (1) The same genes affect g throughout development, even though (2) heritability increases. It is now possible to test these hypotheses using DNA alone. From 1.7 million DNA markers and g scores at ages 7 and 12 on 2875 children, the DNA genetic correlation from age 7 to 12 was 0.73, highly similar to the genetic correlation of 0.75 estimated from 6702 pairs of twins from the same sample. DNA-estimated heritabilities increased from 0.26 at age 7 to 0.45 at age 12; twin-estimated heritabilities also increased from 0.35 to 0.48. These DNA results confirm the results of twin studies indicating strong genetic stability but increasing heritability for g, despite mean changes in brain structure and function from childhood to adolescence.

  16. Genetic evidence for the origin and relationships of Hawaiian honeycreepers (Aves: Fringillidae)

    Science.gov (United States)

    Ned K. Johnson; Jill A. Marten; C. John Ralph

    1989-01-01

    Using starch gel electrophoresis of proteins, we examined variation at 36 genetic loci in nine species (eight genera) of Hawaiian honeycreepers (Class Aves; Family Fringillidae; Subfamily Drepanidinae). Two species of cardueline finches and two emberizids served as outgroup taxa. Twenty-three loci (64%) were either polymorphic within taxa and/or were fixed at...

  17. Beyond Mendelian randomization: how to interpret evidence of shared genetic predictors.

    Science.gov (United States)

    Burgess, Stephen; Butterworth, Adam S; Thompson, John R

    2016-01-01

    Mendelian randomization is a popular technique for assessing and estimating the causal effects of risk factors. If genetic variants which are instrumental variables for a risk factor are shown to be additionally associated with a disease outcome, then the risk factor is a cause of the disease. However, in many cases, the instrumental variable assumptions are not plausible, or are in doubt. In this paper, we provide a theoretical classification of scenarios in which a causal conclusion is justified or not justified, and discuss the interpretation of causal effect estimates. A list of guidelines based on the 'Bradford Hill criteria' for judging the plausibility of a causal finding from an applied Mendelian randomization study is provided. We also give a framework for performing and interpreting investigations performed in the style of Mendelian randomization, but where the choice of genetic variants is statistically, rather than biologically motivated. Such analyses should not be assigned the same evidential weight as a Mendelian randomization investigation. We discuss the role of such investigations (in the style of Mendelian randomization), and what they add to our understanding of potential causal mechanisms. If the genetic variants are selected solely according to statistical criteria, and the biological roles of genetic variants are not investigated, this may be little more than what can be learned from a well-designed classical observational study. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  18. Developing national guidance on genetic testing for breast cancer predisposition: the role of economic evidence?

    NARCIS (Netherlands)

    Sullivan, W.; Evans, D.G.; Newman, W.G.; Ramsden, S.C.; Scheffer, H.; Payne, K.

    2012-01-01

    Advancements in genetic testing to identify predisposition for hereditary breast cancer (HBC) mean that it is important to understand the incremental costs and benefits of the new technologies compared with current testing strategies. This study aimed to (1) identify and critically appraise existing

  19. Genetic and Environmental Stability in Attention Problems across the Lifespan: Evidence from the Netherlands Twin Register

    Science.gov (United States)

    Kan, Kees-Jan; Dolan, Conor V.; Nivard, Michel G.; Middeldorp, Christel M.; van Beijsterveldt, Catharina E. M.; Willemsen, Gonneke; Boomsma, Dorret I.

    2013-01-01

    Objective: To review findings on attention-deficit/hyperactivity disorder and attention problems (AP) in children, adolescents, and adults, as established in the database of the Netherlands Twin Register and increase the understanding of stability in AP across the lifespan as a function of genetic and environmental influences. Method: A…

  20. Evidence for Shared Genetic Risk between ADHD Symptoms and Reduced Mathematics Ability: A Twin Study

    Science.gov (United States)

    Greven, Corina U.; Kovas, Yulia; Willcutt, Erik G.; Petrill, Stephen A.; Plomin, Robert

    2013-01-01

    Background: Attention-deficit/hyperactivity disorder (ADHD) symptoms and mathematics ability are associated, but little is known about the genetic and environmental influences underlying this association. Methods: Data came from more than 6,000 twelve-year-old twin pairs from the UK population-representative Twins Early Development Study. Parents…

  1. Genetic and migratory evidence for sympatric spawning of tropical Pacific eels from Vanuatu

    DEFF Research Database (Denmark)

    Schabetsberger, R.; Økland, F.; Kalfatak, D.;

    2015-01-01

    The spawning areas of tropical anguillid eels in the South Pacific are poorly known, and more information about their life histories is needed to facilitate conservation. We genetically characterized 83 out of 84 eels caught on Gaua Island (Vanuatu) and tagged 8 eels with pop-up satellite...

  2. Genetic evidence for an origin of the Armenians from Bronze Age mixing of multiple populations.

    Science.gov (United States)

    Haber, Marc; Mezzavilla, Massimo; Xue, Yali; Comas, David; Gasparini, Paolo; Zalloua, Pierre; Tyler-Smith, Chris

    2016-06-01

    The Armenians are a culturally isolated population who historically inhabited a region in the Near East bounded by the Mediterranean and Black seas and the Caucasus, but remain under-represented in genetic studies and have a complex history including a major geographic displacement during World War I. Here, we analyse genome-wide variation in 173 Armenians and compare them with 78 other worldwide populations. We find that Armenians form a distinctive cluster linking the Near East, Europe, and the Caucasus. We show that Armenian diversity can be explained by several mixtures of Eurasian populations that occurred between ~3000 and ~2000 bce, a period characterized by major population migrations after the domestication of the horse, appearance of chariots, and the rise of advanced civilizations in the Near East. However, genetic signals of population mixture cease after ~1200 bce when Bronze Age civilizations in the Eastern Mediterranean world suddenly and violently collapsed. Armenians have since remained isolated and genetic structure within the population developed ~500 years ago when Armenia was divided between the Ottomans and the Safavid Empire in Iran. Finally, we show that Armenians have higher genetic affinity to Neolithic Europeans than other present-day Near Easterners, and that 29% of Armenian ancestry may originate from an ancestral population that is best represented by Neolithic Europeans.

  3. Toward Evidence-Based Genetic Research on Lifelong Premature Ejaculation: A Critical Evaluation of Methodology

    Science.gov (United States)

    2011-01-01

    Recently, four premature ejaculation (PE) subtypes have been distinguished on the basis of the duration of the intravaginal ejaculation latency time (IELT). These four PE subtypes have different etiologies and pathogeneses. Genetic research on PE should consider the existence of these PE subtypes and the accurate measurement of the IELT with a stopwatch. Currently, three methods of genetic research on PE have been used. They differ in the investigated population, tool of measurement, study design, and variables of PE. From animal and human research, it is derived that the central serotonergic system "modulates" ejaculation, whereas the ejaculation (reflex) itself is probably not under direct influence of the serotonergic system, but rather under the influence of other neurotransmitter systems in the spinal cord. For genetic research on PE, it is important to take into account that the (serotonergic) modulation of the IELT is variable among men and may even be absent. This means that serotonergic genetic polymorphisms may only be found in men with PE who respond with an ejaculation delay treatment with a selective serotonin reuptake inhibitor. PMID:21344023

  4. Coherence of evidence from systematic reviews as a basis for evidence strength - a case study in support of an epistemological proposition

    Directory of Open Access Journals (Sweden)

    Mickenautsch Steffen

    2012-01-01

    Full Text Available Abstract Background This article aims to offer, on the basis of Coherence theory, the epistemological proposition that mutually supportive evidence from multiple systematic reviews may successfully refute radical, philosophical scepticism. Methods A case study including seven systematic reviews is presented with the objective of refuting radical philosophical scepticism towards the belief that glass-ionomer cements (GIC are beneficial in tooth caries therapy. The case study illustrates how principles of logical and empirical coherence may be applied as evidence in support of specific beliefs in healthcare. Results The results show that radical scepticism may epistemologically be refuted on the basis of logical and empirical coherence. For success, several systematic reviews covering interconnected beliefs are needed. In praxis, these systematic reviews would also need to be of high quality and its conclusions based on reviewed high quality trials. Conclusions A refutation of radical philosophical scepticism to clinical evidence may be achieved, if and only if such evidence is based on the logical and empirical coherence of multiple systematic review results. Practical application also requires focus on the quality of the systematic reviews and reviewed trials.

  5. News Media Use, Informed Issue Evaluation, and South Koreans' Support for Genetically Modified Foods

    Science.gov (United States)

    Kim, Sei-Hill; Kim, Jeong-Nam; Choi, Doo-Hun; Jun, Sangil

    2015-01-01

    Analyzing survey data on the issue of genetically modified foods in South Korea, this study explores the role of news media in facilitating informed issue evaluation. Respondents who read a newspaper more often were more knowledgeable about the issue. Also, heavy newspaper readers were more able than light readers to hold "consistent"…

  6. Directed dispersal by rotational shepherding supports landscape genetic connectivity in a calcareous grassland plant.

    Science.gov (United States)

    Rico, Yessica; Holderegger, Rolf; Boehmer, Hans Juergen; Wagner, Helene H

    2014-02-01

    Directed dispersal by animal vectors has been found to have large effects on the structure and dynamics of plant populations adapted to frugivory. Yet, empirical data are lacking on the potential of directed dispersal by rotational grazing of domestic animals to mediate gene flow across the landscape. Here, we investigated the potential effect of large-flock shepherding on landscape-scale genetic structure in the calcareous grassland plant Dianthus carthusianorum, whose seeds lack morphological adaptations to dispersal to animals or wind. We found a significant pattern of genetic structure differentiating population within grazed patches of three nonoverlapping shepherding systems and populations of ungrazed patches. Among ungrazed patches, we found a strong and significant effect of isolation by distance (r = 0.56). In contrast, genetic distance between grazed patches within the same herding system was unrelated to geographical distance but significantly related to distance along shepherding routes (r = 0.44). This latter effect of connectivity along shepherding routes suggests that gene flow is spatially restricted occurring mostly between adjacent populations. While this study used nuclear markers that integrate gene flow by pollen and seed, the significant difference in the genetic structure between ungrazed patches and patches connected by large-flock shepherding indicates the potential of directed seed dispersal by sheep across the landscape.

  7. Genetic Counseling

    Science.gov (United States)

    Genetic counseling provides information and support to people who have, or may be at risk for, genetic disorders. A ... meets with you to discuss genetic risks. The counseling may be for yourself or a family member. ...

  8. Identification of novel genetic risk loci in Maltese dogs with necrotizing meningoencephalitis and evidence of a shared genetic risk across toy dog breeds.

    Science.gov (United States)

    Schrauwen, Isabelle; Barber, Renee M; Schatzberg, Scott J; Siniard, Ashley L; Corneveaux, Jason J; Porter, Brian F; Vernau, Karen M; Keesler, Rebekah I; Matiasek, Kaspar; Flegel, Thomas; Miller, Andrew D; Southard, Teresa; Mariani, Christopher L; Johnson, Gayle C; Huentelman, Matthew J

    2014-01-01

    Necrotizing meningoencephalitis (NME) affects toy and small breed dogs causing progressive, often fatal, inflammation and necrosis in the brain. Genetic risk loci for NME previously were identified in pug dogs, particularly associated with the dog leukocyte antigen (DLA) class II complex on chromosome 12, but have not been investigated in other susceptible breeds. We sought to evaluate Maltese and Chihuahua dogs, in addition to pug dogs, to identify novel or shared genetic risk factors for NME development. Genome-wide association testing of single nucleotide polymorphisms (SNPs) in Maltese dogs with NME identified 2 regions of genome-wide significance on chromosomes 4 (chr4:74522353T>A, p = 8.1×10-7) and 15 (chr15:53338796A>G, p = 1.5×10-7). Haplotype analysis and fine-mapping suggests that ILR7 and FBXW7, respectively, both important for regulation of immune system function, could be the underlying associated genes. Further evaluation of these regions and the previously identified DLA II locus across all three breeds, revealed an enrichment of nominal significant SNPs associated with chromosome 15 in pug dogs and DLA II in Maltese and Chihuahua dogs. Meta-analysis confirmed effect sizes the same direction in all three breeds for both the chromosome 15 and DLA II loci (p = 8.6×10-11 and p = 2.5×10-7, respectively). This suggests a shared genetic background exists between all breeds and confers susceptibility to NME, but effect sizes might be different among breeds. In conclusion, we identified the first genetic risk factors for NME development in the Maltese, chromosome 4 and chromosome 15, and provide evidence for a shared genetic risk between breeds associated with chromosome 15 and DLA II. Last, DLA II and IL7R both have been implicated in human inflammatory diseases of the central nervous system such as multiple sclerosis, suggesting that similar pharmacotherapeutic targets across species should be investigated.

  9. Genetic evidence that the Makira region in northeastern Madagascar is a hotspot of malaria transmission.

    Science.gov (United States)

    Rice, Benjamin L; Golden, Christopher D; Anjaranirina, Evelin Jean Gasta; Botelho, Carolina Mastella; Volkman, Sarah K; Hartl, Daniel L

    2016-12-20

    Encouraging advances in the control of Plasmodium falciparum malaria have been observed across much of Africa in the past decade. However, regions of high relative prevalence and transmission that remain unaddressed or unrecognized provide a threat to this progress. Difficulties in identifying such localized hotspots include inadequate surveillance, especially in remote regions, and the cost and labor needed to produce direct estimates of transmission. Genetic data can provide a much-needed alternative to such empirical estimates, as the pattern of genetic variation within malaria parasite populations is indicative of the level of local transmission. Here, genetic data were used to provide the first empirical estimates of P. falciparum malaria prevalence and transmission dynamics for the rural, remote Makira region of northeastern Madagascar. Longitudinal surveys of a cohort of 698 total individuals (both sexes, 0-74 years of age) were performed in two communities bordering the Makira Natural Park protected area. Rapid diagnostic tests, with confirmation by molecular methods, were used to estimate P. falciparum prevalence at three seasonal time points separated by 4-month intervals. Genomic loci in a panel of polymorphic, putatively neutral markers were genotyped for 94 P. falciparum infections and used to characterize genetic parameters known to correlate with transmission levels. Overall, 27.8% of individuals tested positive for P. falciparum over the 10-month course of the study, a rate approximately sevenfold higher than the countrywide average for Madagascar. Among those P. falciparum infections, a high level of genotypic diversity and a high frequency of polygenomic infections (68.1%) were observed, providing a pattern consistent with high and stable transmission. Prevalence and genetic diversity data indicate that the Makira region is a hotspot of P. falciparum transmission in Madagascar. This suggests that the area should be highlighted for future

  10. Legalising medical use of cannabis in South Africa: Is the empirical evidence sufficient to support policy shifts in this direction?

    Science.gov (United States)

    Parry, Charles D H; Myers, Bronwyn J

    2014-03-12

    Inkatha Freedom Party MP Mario Oriani-Ambrosini's impassioned plea to legalise the medical use of cannabis must be understood in the context of his own condition as well as legislative changes in at least ten countries. This article argues that any decisions to shift policy must be based on a consideration of the evidence on the risks and benefits associated with the medical use of cannabis for the individual and broader society. It concludes that there are important gaps in the evidence base, particularly in human trials supporting the efficacy of cannabis use for treating and preventing medical conditions and alleviating negative symptoms associated with these conditions. South African researchers should be enabled actively to support development of the necessary evidence base actively by conducting preclinical and clinical research in this area. Human trials to establish the efficacy of the use of cannabis/cannabinoids in addressing AIDS wasting syndrome and other negative sequelae of HIV and AIDS are especially needed.

  11. Research to support evidence-based practice in COPD community nursing.

    Science.gov (United States)

    Kirkpatrick, Pamela; Wilson, Ethel; Wimpenny, Peter

    2012-10-01

    Evidence-based practice (EBP) is a requirement of nurses through the generation of evidence to implementing it, in a bid to to improve clinical practice. However, EBP is difficult to achieve. This paper highlights an approach to generating evidence for enhancing community nursing services for patients with chronic obstructive pulmonary disease (COPD) through a collaborative partnership. A district nurse and two nursing lecturers formed a partnership to devise a systematic review protocol and perform a systematic review to enhance COPD practice. This paper illustrates the Joanna Briggs Institute (JBI) systematic review process, the review outcomes and the practitioner learning. Collaborative partnerships between academics, researchers and clinicians are a potentially useful model to facilitate enhanced outcomes in evidence-based practice and evidence application.

  12. Combining support vector regression and cellular genetic algorithm for multi-objective optimization of coal-fired utility boilers

    Energy Technology Data Exchange (ETDEWEB)

    Feng Wu; Hao Zhou; Tao Ren; Ligang Zheng; Kefa Cen [Zhejiang University, Hangzhou (China). State Key Laboratory of Clean Energy Utilization

    2009-10-15

    Support vector regression (SVR) was employed to establish mathematical models for the NOx emissions and carbon burnout of a 300 MW coal-fired utility boiler. Combined with the SVR models, the cellular genetic algorithm for multi-objective optimization (MOCell) was used for multi-objective optimization of the boiler combustion. Meanwhile, the comparison between MOCell and the improved non-dominated sorting genetic algorithm (NSGA-II) shows that MOCell has superior performance to NSGA-II regarding the problem. The field experiments were carried out to verify the accuracy of the results obtained by MOCell, the results were in good agreement with the measurement data. The proposed approach provides an effective tool for multi-objective optimization of coal combustion performance, whose feasibility and validity are experimental validated. A time period of less than 4 s was required for a run of optimization under a PC system, which is suitable for the online application. 19 refs., 8 figs., 2 tabs.

  13. The correlation of fecundability among twins: Evidence of a genetic effect on fertility?

    DEFF Research Database (Denmark)

    Christensen, Kaare; Kohler, Hans-Peter; Basso, Olga;

    2003-01-01

    born 1953-1982. Fecundability was assessed as the waiting time to pregnancy at the first attempt to achieve a pregnancy. RESULTS: The reported time to pregnancy for males was slightly shorter than for females but there were no sex differences in intrapair similarity. We found an intrapair correlation......BACKGROUND: Numerous rare genetic conditions are known to influence fecundability in both males and females. It is less clear to what extent more subtle genetic differences influence fecundability on a population level. METHODS: In 1994 a population-based survey was conducted among Danish twins...... in time to pregnancy for 645 monozygotic twin pairs (r = 0.22; 95% confidence interval = 0.12 to 0.32), but no intrapair correlation for 826 like-sex dizygotic twin pairs (r = 0.00; 95% confidence interval = -0.09 to 0.10). CONCLUSIONS: The correlation in time to pregnancy for monozygotic twins suggests...

  14. Evidence for genetic variation in human mate preferences for sexually dimorphic physical traits.

    Directory of Open Access Journals (Sweden)

    Karin J H Verweij

    Full Text Available Intersexual selection has been proposed as an important force in shaping a number of morphological traits that differ between human populations and/or between the sexes. Important to these accounts is the source of mate preferences for such traits, but this has not been investigated. In a large sample of twins, we assess forced-choice, dichotomous mate preferences for height, skin colour, hair colour and length, chest hair, facial hair, and breast size. Across the traits, identical twins reported more similar preferences than nonidentical twins, suggesting genetic effects. However, the relative magnitude of estimated genetic and environmental effects differed greatly and significantly between different trait preferences, with heritability estimates ranging from zero to 57%.

  15. Evidence for genetic variation in human mate preferences for sexually dimorphic physical traits.

    Science.gov (United States)

    Verweij, Karin J H; Burri, Andrea V; Zietsch, Brendan P

    2012-01-01

    Intersexual selection has been proposed as an important force in shaping a number of morphological traits that differ between human populations and/or between the sexes. Important to these accounts is the source of mate preferences for such traits, but this has not been investigated. In a large sample of twins, we assess forced-choice, dichotomous mate preferences for height, skin colour, hair colour and length, chest hair, facial hair, and breast size. Across the traits, identical twins reported more similar preferences than nonidentical twins, suggesting genetic effects. However, the relative magnitude of estimated genetic and environmental effects differed greatly and significantly between different trait preferences, with heritability estimates ranging from zero to 57%.

  16. Phenotypic and genetic evidence for a unifactorial structure of spatial abilities.

    Science.gov (United States)

    Rimfeld, Kaili; Shakeshaft, Nicholas G; Malanchini, Margherita; Rodic, Maja; Selzam, Saskia; Schofield, Kerry; Dale, Philip S; Kovas, Yulia; Plomin, Robert

    2017-03-07

    Spatial abilities encompass several skills differentiable from general cognitive ability (g). Importantly, spatial abilities have been shown to be significant predictors of many life outcomes, even after controlling for g. To date, no studies have analyzed the genetic architecture of diverse spatial abilities using a multivariate approach. We developed "gamified" measures of diverse putative spatial abilities. The battery of 10 tests was administered online to 1,367 twin pairs (age 19-21) from the UK-representative Twins Early Development Study (TEDS). We show that spatial abilities constitute a single factor, both phenotypically and genetically, even after controlling for g This spatial ability factor is highly heritable (69%). We draw three conclusions: (i) The high heritability of spatial ability makes it a good target for gene-hunting research; (ii) some genes will be specific to spatial ability, independent of g; and (iii) these genes will be associated with all components of spatial ability.

  17. Genetic variation and recent positive selection in worldwide human populations: evidence from nearly 1 million SNPs.

    Directory of Open Access Journals (Sweden)

    David López Herráez

    Full Text Available BACKGROUND: Genome-wide scans of hundreds of thousands of single-nucleotide polymorphisms (SNPs have resulted in the identification of new susceptibility variants to common diseases and are providing new insights into the genetic structure and relationships of human populations. Moreover, genome-wide data can be used to search for signals of recent positive selection, thereby providing new insights into the genetic adaptations that occurred as modern humans spread out of Africa and around the world. METHODOLOGY: We genotyped approximately 500,000 SNPs in 255 individuals (5 individuals from each of 51 worldwide populations from the Human Genome Diversity Panel (HGDP-CEPH. When merged with non-overlapping SNPs typed previously in 250 of these same individuals, the resulting data consist of over 950,000 SNPs. We then analyzed the genetic relationships and ancestry of individuals without assigning them to populations, and we also identified candidate regions of recent positive selection at both the population and regional (continental level. CONCLUSIONS: Our analyses both confirm and extend previous studies; in particular, we highlight the impact of various dispersals, and the role of substructure in Africa, on human genetic diversity. We also identified several novel candidate regions for recent positive selection, and a gene ontology (GO analysis identified several GO groups that were significantly enriched for such candidate genes, including immunity and defense related genes, sensory perception genes, membrane proteins, signal receptors, lipid binding/metabolism genes, and genes involved in the nervous system. Among the novel candidate genes identified are two genes involved in the thyroid hormone pathway that show signals of selection in African Pygmies that may be related to their short stature.

  18. Host use evolution in Chrysochus milkweed beetles: evidence from behaviour, population genetics and phylogeny.

    Science.gov (United States)

    Dobler, S; Farrell, B D

    1999-08-01

    In two sister species of leaf beetles with overlapping host associations, Chrysochus auratus and C. cobaltinus, we established diet breadth and food preference of local populations for evaluation together with genetic differentiation between populations. While C. auratus turned out to be monophagous on the same plant wherever we collected the beetles, the studied populations of C. cobaltinus fed on three different plant species in the field. Plant preference and ranking of the potential host plants significantly differed between these populations. The amount of genetic differentiation between populations was measured by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay of a 1300 bp mitochondrial DNA (mtDNA) sequence. In addition, the dominant genotypes of all populations were sequenced. No genetic differentiation between the populations of C. auratus could be detected in the RFLP assay and sequence divergence was low (= 0.3%). In C. cobaltinus, on the other hand, genetic differentiation between populations was high, revealing a lack of gene flow over a much smaller scale and a maximum of 1.3% sequence divergence. C. cobaltinus thereby has the prerequisites for host race formation on different plants from the original host spectrum. Our sequence-based phylogeny estimate allows us to reconstruct historical diet evolution in Chrysochus. Starting from an original association with Asclepiadaceae, the common ancestor of C. auratus and C. cobaltinus included Apocynaceae in its diet. The strict specialization on Apocynum and the loss of acceptance of Asclepiadaceae observed in C. auratus could have resulted from a process similar to that displayed by C. cobaltinus populations.

  19. Research to support sterile-male-release and genetic alteration techniques for sea lamprey control

    Science.gov (United States)

    Bergstedt, Roger A.; Twohey, Michael B.

    2007-01-01

    Integrated pest management of sea lampreys in the Laurentian Great Lakes has recently been enhanced by addition of a sterile-male-release program, and future developments in genetic approaches may lead to additional methods for reducing sea lamprey reproduction. We review the development, implementation, and evaluation of the sterile-male-release technique (SMRT) as it is being applied against sea lampreys in the Great Lakes, review the current understanding of SMRT efficacy, and identify additional research areas and topics that would increase either the efficacy of the SMRT or expand its geographic potential for application. Key areas for additional research are in the sterilization process, effects of skewed sex ratios on mating behavior, enhancing attractiveness of sterilized males, techniques for genetic alteration of sea lampreys, and sources of animals to enhance or expand the use of sterile lampreys.

  20. Strong evidence for a genetic contribution to late-onset Alzheimer's disease mortality: a population-based study.

    Directory of Open Access Journals (Sweden)

    John S K Kauwe

    Full Text Available BACKGROUND: Alzheimer's disease (AD is an international health concern that has a devastating effect on patients and families. While several genetic risk factors for AD have been identified much of the genetic variance in AD remains unexplained. There are limited published assessments of the familiality of Alzheimer's disease. Here we present the largest genealogy-based analysis of AD to date. METHODS: We assessed the familiality of AD in The Utah Population Database (UPDB, a population-based resource linking electronic health data repositories for the state with the computerized genealogy of the Utah settlers and their descendants. We searched UPDB for significant familial clustering of AD to evaluate the genetic contribution to disease. We compared the Genealogical Index of Familiality (GIF between AD individuals and randomly selected controls and estimated the Relative Risk (RR for a range of family relationships. Finally, we identified pedigrees with a significant excess of AD deaths. RESULTS: The GIF analysis showed that pairs of individuals dying from AD were significantly more related than expected. This excess of relatedness was observed for both close and distant relationships. RRs for death from AD among relatives of individuals dying from AD were significantly increased for both close and more distant relatives. Multiple pedigrees had a significant excess of AD deaths. CONCLUSIONS: These data strongly support a genetic contribution to the observed clustering of individuals dying from AD. This report is the first large population-based assessment of the familiality of AD mortality and provides the only reported estimates of relative risk of AD mortality in extended relatives to date. The high-risk pedigrees identified show a true excess of AD mortality (not just multiple cases and are greater in depth and width than published AD pedigrees. The presence of these high-risk pedigrees strongly supports the possibility of rare

  1. Genetic structure of Triatoma venosa (Hemiptera: Reduviidae: molecular and morphometric evidence

    Directory of Open Access Journals (Sweden)

    Erika Vargas

    2006-02-01

    Full Text Available Triatoma venosa presents a restricted geographical distribution in America and is considered as a secondary vector of Chagas disease in Colombia and Ecuador. A total of 120 adult insects were collected in domestic and peridomestic habitats in an endemic area of the department of Boyacá, Colombia, in order to determine their genetic structure through morphometric and molecular techniques. The head and wings of each specimen were used for the analyses of size, shape, and sexual dimorphism. A significant sexual dimorphism was found, although no differences in size among the studied groups were detected. Differences were found in the analyzed structures except for male heads. DNA was extracted from the legs in order to carry out the internal transcriber space-2 (ITS-2 amplification and the randon amplified polymorphic DNA (RAPD analyses. Length polymorphisms were not detected in the ITS-2. Fst and Nm values were estimated (0.047 and 3.4, respectively. The high genetic flow found among the insects captured in the domicile and peridomiciliary environment does not permit a genetic differentiation, thus establishing the peridomicile as an important place for epidemiological surveillance.

  2. Marriage Squeeze and Intergenerational Support in Contemporary Rural China: Evidence from X County of Anhui Province.

    Science.gov (United States)

    Jin, Xiaoyi; Guo, Qiuju; Feldman, Marcus W

    2015-01-01

    With China's gender imbalance and increasingly severe male marriage squeeze, patterns of intergenerational support in rural areas are likely to undergo significant change. Using data from a survey of four towns from X county in Anhui province carried out in 2008, this article analyzes the effects of sons' marital status on intergenerational support. Random-effect regression analysis shows that son's marital status has strong effects on financial support to and coresidence with parents. Compared with married sons, older unmarried sons (so-called forced bachelors) tend to provide less financial support to their parents and are more likely to live with their parents. Parents' support of sons, as well as the parents' own needs and sons' capabilities all affect the support provided by sons. These results show that both theories of exchange and altruism are simultaneously relevant in the context of the marriage squeeze of contemporary rural China.

  3. Forensic Science in Support of Wildlife Conservation Efforts - Genetic Approaches (Global Trends).

    Science.gov (United States)

    Linacre, A

    2011-01-01

    Wildlife forensic science is a relatively recent development to meet the increasing need of the criminal justice system where there are investigations in alleged transgressions of either international or national legislation. This application of science draws on conservation genetics and forensic geneticists from mainstream forensic science. This review is a broad overview of the history of forensic wildlife science and some of the recent developments in forensic wildlife genetics with the application of DNA developments to nonhuman samples encountered in a forensic science investigation. The review will move from methods to look at the entire genome, when there is no previous knowledge of the species studied, through methods of species identification, using DNA to determine a possible geographic origin, through to assigning samples to a particular individual or a close genetic relative of this individual. The transfer of research methods into the criminal justice system for the investigation of wildlife crimes has been largely successful as is illustrated in the review. The review concludes with comments on the need for standardization and regulation in wildlife forensic science. Copyright © 2011 Central Police University.

  4. GAPscreener: An automatic tool for screening human genetic association literature in PubMed using the support vector machine technique

    Directory of Open Access Journals (Sweden)

    Khoury Muin J

    2008-04-01

    Full Text Available Abstract Background Synthesis of data from published human genetic association studies is a critical step in the translation of human genome discoveries into health applications. Although genetic association studies account for a substantial proportion of the abstracts in PubMed, identifying them with standard queries is not always accurate or efficient. Further automating the literature-screening process can reduce the burden of a labor-intensive and time-consuming traditional literature search. The Support Vector Machine (SVM, a well-established machine learning technique, has been successful in classifying text, including biomedical literature. The GAPscreener, a free SVM-based software tool, can be used to assist in screening PubMed abstracts for human genetic association studies. Results The data source for this research was the HuGE Navigator, formerly known as the HuGE Pub Lit database. Weighted SVM feature selection based on a keyword list obtained by the two-way z score method demonstrated the best screening performance, achieving 97.5% recall, 98.3% specificity and 31.9% precision in performance testing. Compared with the traditional screening process based on a complex PubMed query, the SVM tool reduced by about 90% the number of abstracts requiring individual review by the database curator. The tool also ascertained 47 articles that were missed by the traditional literature screening process during the 4-week test period. We examined the literature on genetic associations with preterm birth as an example. Compared with the traditional, manual process, the GAPscreener both reduced effort and improved accuracy. Conclusion GAPscreener is the first free SVM-based application available for screening the human genetic association literature in PubMed with high recall and specificity. The user-friendly graphical user interface makes this a practical, stand-alone application. The software can be downloaded at no charge.

  5. Soft sensor development and optimization of the commercial petrochemical plant integrating support vector regression and genetic algorithm

    Directory of Open Access Journals (Sweden)

    S.K. Lahiri

    2009-09-01

    Full Text Available Soft sensors have been widely used in the industrial process control to improve the quality of the product and assure safety in the production. The core of a soft sensor is to construct a soft sensing model. This paper introduces support vector regression (SVR, a new powerful machine learning methodbased on a statistical learning theory (SLT into soft sensor modeling and proposes a new soft sensing modeling method based on SVR. This paper presents an artificial intelligence based hybrid soft sensormodeling and optimization strategies, namely support vector regression – genetic algorithm (SVR-GA for modeling and optimization of mono ethylene glycol (MEG quality variable in a commercial glycol plant. In the SVR-GA approach, a support vector regression model is constructed for correlating the process data comprising values of operating and performance variables. Next, model inputs describing the process operating variables are optimized using genetic algorithm with a view to maximize the process performance. The SVR-GA is a new strategy for soft sensor modeling and optimization. The major advantage of the strategies is that modeling and optimization can be conducted exclusively from the historic process data wherein the detailed knowledge of process phenomenology (reaction mechanism, kinetics etc. is not required. Using SVR-GA strategy, a number of sets of optimized operating conditions were found. The optimized solutions, when verified in an actual plant, resulted in a significant improvement in the quality.

  6. Discovering the dementia evidence base: Tools to support knowledge to action in dementia care (innovative practice).

    Science.gov (United States)

    Hayman, Sarah L; Tieman, Jennifer J

    2016-09-01

    Dementia requires expert care and decision making, based on sound evidence. Reliable evidence is difficult for busy dementia care professionals to find quickly. This study developed an experimentally tested search filter as an innovative tool to retrieve literature on dementia. It has a known retrieval performance and can be provided as an open access web link directly to current literature. The Dementia Search Filter was developed using validated methodology. An Expert Advisory Group of dementia care practitioners and researchers ratified a representative set of relevant studies and undertook post hoc relevance assessment, to ensure the usefulness of the search filter. The Dementia Search Filter is published on two websites and combined with expert searches to link to evidence on dementia, at end of life in aged care settings and more generally. Evidence accessed by the Dementia Search Filter will help overcome barriers to finding current relevant research in the field, for practitioners, researchers and decision makers.

  7. Cooperation as a signal of genetic or phenotypic quality in female mate choice? Evidence from preferences across the menstrual cycle.

    Science.gov (United States)

    Farrelly, Daniel

    2011-08-01

    Previous research highlighting the role sexual selection may play in the evolution of human cooperation has yet to distinguish what qualities such behaviours actually signal. The aim here was to examine whether female preferences for male cooperative behaviours are because they signal genetic or indirect phenotypic quality. This was possible by taking into account female participants' stage of menstrual cycle, as much research has shown that females at the most fertile stage show greater preferences specifically for signals of genetic quality than any other stage, particularly for short-term relationships. Therefore, different examples of cooperation (personality, costly signals, heroism) and the mate preferences for altruistic traits self-report scale were used across a series of four experiments to examine females' attitudes towards cooperation in potential mates for different relationship lengths at different stages of the menstrual cycle. The results here consistently show that female fertility had no effect on perceptions of cooperative behaviour, and that such traits were considered more important for long-term relationships. Therefore, this provides strong evidence that cooperative behaviour is important in mate choice as predominantly a signal of phenotypic rather than genetic quality.

  8. Experimental evidence that kin discrimination in the Seychelles warbler is based on association and not on genetic relatedness.

    Science.gov (United States)

    Komdeur, Jan; Richardson, David S; Burke, Terry

    2004-05-07

    In cooperative breeding systems driven by kin selection, effective kin-recognition cues are important. Recognition could be achieved by the direct assessment of the genetic relatedness of individuals or by learning through association. In the Seychelles warbler, Acrocephalus sechellensis, female subordinates maximize indirect fitness by preferentially helping genetically related nestlings. Help seems to be based on the continued presence of the primary female who previously fed the subordinate in the nest but it has, so far, been impossible to discount the direct assessment of genetic relatedness. We used a cross-fostering experiment to separate the two possible cues. Adult birds did not discriminate between their own and cross-fostered eggs or nestlings. Cross-fostering resulted in nestlings that were unrelated to the primary female that raised them, but control nestlings were closely related to their primary females. The proportions of cross-fostered and control female offspring that stayed and became helpers on their 'natal' territory were similar. However, for both groups the chance of becoming a subordinate helper was associated with the continued presence of the primary female and not with any other factor tested. Our study provides strong evidence that helping decisions are based on associative-learning cues.

  9. How mothers allocate support among adult children: evidence from a multiactor survey

    NARCIS (Netherlands)

    Kalmijn, M.

    2013-01-01

    Objectives. Using a within-family perspective, we examine how mothers allocate support among their adult children, and we test alternative theories about support exchange. Method. We use a large-scale multiactor survey from the Netherlands in which mothers and children were interviewed independently

  10. The Efficacy of Positive Behavioural Support with the Most Challenging Behaviour: The Evidence and Its Implications

    Science.gov (United States)

    LaVigna, Gary W.; Willis, Thomas J.

    2012-01-01

    Background: Positive behaviour support (PBS) is behaviour analysis applied in support of people with challenging behaviour. Questions have been raised as to PBS effectiveness, costs, and accessibility. Method: Outcome studies meeting specified criteria for PBS were selected for review. All told, 12 outcome studies encompassing 423 cases were…

  11. Genetic evidence for high propagule pressure and long-distance dispersal in monk parakeet (Myiopsitta monachus) invasive populations.

    Science.gov (United States)

    Gonçalves da Silva, Anders; Eberhard, Jessica R; Wright, Timothy F; Avery, Michael L; Russello, Michael A

    2010-08-01

    The monk parakeet (Myiopsitta monachus) is a successful invasive species that does not exhibit life history traits typically associated with colonizing species (e.g., high reproductive rate or long-distance dispersal capacity). To investigate this apparent paradox, we examined individual and population genetic patterns of microsatellite loci at one native and two invasive sites. More specifically, we aimed at evaluating the role of propagule pressure, sexual monogamy and long-distance dispersal in monk parakeet invasion success. Our results indicate little loss of genetic variation at invasive sites relative to the native site. We also found strong evidence for sexual monogamy from patterns of relatedness within sites, and no definite cases of extra-pair paternity in either the native site sample or the examined invasive site. Taken together, these patterns directly and indirectly suggest that high propagule pressure has contributed to monk parakeet invasion success. In addition, we found evidence for frequent long-distance dispersal at an invasive site (approximately 100 km) that sharply contrasted with previous estimates of smaller dispersal distance made in the native range (approximately 2 km), suggesting long-range dispersal also contributes to the species' spread within the United States. Overall, these results add to a growing body of literature pointing to the important role of propagule pressure in determining, and thus predicting, invasion success, especially for species whose life history traits are not typically associated with invasiveness.

  12. Dispersal, Isolation, and Interaction in the Islands of Polynesia: A Critical Review of Archaeological and Genetic Evidence

    Directory of Open Access Journals (Sweden)

    K. Ann Horsburgh

    2017-09-01

    Full Text Available Integration of archaeology, modern genetics, and ancient DNA holds promise for the reconstruction of the human past. We examine the advances in research on the indigenous peoples of Polynesia to determine: (1 what do archaeological and genetic data (ancient and modern DNA tell us about the origins of Polynesians; and, (2 what evidence is there for long-distance travel and contacts between Polynesians and indigenous populations of the Americas? We note that the general dispersal pattern of founding human populations in the remote islands of the Pacific and long-distance interaction spheres continue to reflect well-established models. New research suggests that the formation of an Ancestral Polynesia Culture in Western Polynesia may have involved differential patterns of dispersal followed by significant later migrations. It has also been suggested that the pause between the settlement of Western and Eastern Polynesia was centuries longer than currently thought, followed by a remarkably rapid pulse of island colonization. Long-distance travel between islands of the Pacific is currently best documented through the sourcing of artifacts, while the discovery of admixture of Native American DNA within the genome of the people from Easter Island (Rapa Nui is strong new evidence for sustained contacts between Polynesia and the Americas.

  13. Gender, social support, and well-being: Evidence from a Greek community sample

    Directory of Open Access Journals (Sweden)

    Konstantinos Kafetsios

    2007-12-01

    Full Text Available The importance of social support for psychological well-being has been aptly highlighted in epidemiological and psychological research. However, it is not clear from the existing research whether gender differences in structural (relationship status, network size, frequency of interactions with friends and functional (support satisfaction aspects of social support exist and -if they do- to what extent they affect males’ and females’ well-being. Hierarchical regression analyses of crossectional data from a Greek community sample showed that support satisfaction was an important predictor of well-being outcomes in males whereas several structural indicators were predictors of different well-being outcomes in females. Females’ anxiety, perceived stress, and loneliness were adversely affected by frequency of interaction with acquaintances. The results are discussed with regard to gender-role differences that may be underlying the social support effects on well-being, as well as related cultural values.

  14. Is there evidence that we should screen the general population for Lynch syndrome with genetic testing? A systematic review

    Science.gov (United States)

    Prince, Anya E R; Cadigan, R Jean; Henderson, Gail E; Evans, James P; Adams, Michael; Coker-Schwimmer, Emmanuel; Penn, Dolly C; Van Riper, Marcia; Corbie-Smith, Giselle; Jonas, Daniel E

    2017-01-01

    Background The emerging dual imperatives of personalized medicine and technologic advances make population screening for preventable conditions resulting from genetic alterations a realistic possibility. Lynch syndrome is a potential screening target due to its prevalence, penetrance, and the availability of well-established, preventive interventions. However, while population screening may lower incidence of preventable conditions, implementation without evidence may lead to unintentional harms. We examined the literature to determine whether evidence exists that screening for Lynch-associated mismatch repair (MMR) gene mutations leads to improved overall survival, cancer-specific survival, or quality of life. Documenting evidence and gaps is critical to implementing genomic approaches in public health and guiding future research. Materials and methods Our 2014–2015 systematic review identified studies comparing screening with no screening in the general population, and controlled studies assessing analytic validity of targeted next-generation sequencing, and benefits or harms of interventions or screening. We conducted meta-analyses for the association between early or more frequent colonoscopies and health outcomes. Results Twelve studies met our eligibility criteria. No adequate evidence directly addressed the main question or the harms of screening in the general population. Meta-analyses found relative reductions of 68% for colorectal cancer incidence (relative risk: 0.32, 95% confidence interval: 0.23–0.43, three cohort studies, 590 participants) and 78% for all-cause mortality (relative risk: 0.22, 95% confidence interval: 0.09–0.56, three cohort studies, 590 participants) for early or more frequent colonoscopies among family members of people with cancer who also had an associated MMR gene mutation. Conclusion Inadequate evidence exists examining harms and benefits of population-based screening for Lynch syndrome. Lack of evidence highlights the need

  15. Screening and genetic manipulation of green organisms for establishment of biological life support systems in space

    OpenAIRE

    Saei, Amir Ata; Omidi, Amir Ali; Barzegari, Abolfazl

    2013-01-01

    Curiosity has driven humankind to explore and conquer space. However, today, space research is not a means to relieve this curiosity anymore, but instead has turned into a need. To support the crew in distant expeditions, supplies should either be delivered from the Earth, or prepared for short durations through physiochemical methods aboard the space station. Thus, research continues to devise reliable regenerative systems. Biological life support systems may be the only answer to human auto...

  16. Attention Deficit Hyperactivity Disorder Symptoms and Low Educational Achievement: Evidence Supporting A Causal Hypothesis.

    Science.gov (United States)

    de Zeeuw, Eveline L; van Beijsterveldt, Catharina E M; Ehli, Erik A; de Geus, Eco J C; Boomsma, Dorret I

    2017-02-13

    Attention Deficit Hyperactivity Disorder (ADHD) and educational achievement are negatively associated in children. Here we test the hypothesis that there is a direct causal effect of ADHD on educational achievement. The causal effect is tested in a genetically sensitive design to exclude the possibility of confounding by a third factor (e.g. genetic pleiotropy) and by comparing educational achievement and secondary school career in children with ADHD who take or do not take methylphenidate. Data on ADHD symptoms, educational achievement and methylphenidate usage were available in a primary school sample of ~10,000 12-year-old twins from the Netherlands Twin Register. A substantial group also had longitudinal data at ages 7-12 years. ADHD symptoms were cross-sectionally and longitudinally, associated with lower educational achievement at age 12. More ADHD symptoms predicted a lower-level future secondary school career at age 14-16. In both the cross-sectional and longitudinal analyses, testing the direct causal effect of ADHD on educational achievement, while controlling for genetic and environmental factors, revealed an association between ADHD symptoms and educational achievement independent of genetic and environmental pleiotropy. These findings were confirmed in MZ twin intra-pair differences models, twins with more ADHD symptoms scored lower on educational achievement than their co-twins. Furthermore, children with ADHD medication, scored significantly higher on the educational achievement test than children with ADHD who did not use medication. Taken together, the results are consistent with a direct causal effect of ADHD on educational achievement.

  17. Damage Identification of Trusses with Elastic Supports Using FEM and Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Nam-Il Kim

    2013-01-01

    Full Text Available The computationally efficient damage identification technique for truss structures with elastic supports is proposed based on the force method. To transform the truss with supports into the equivalent free-standing model without supports, the novel zero-length dummy members are employed. General equilibrium equations and kinematic relations, in which the reaction forces and the displacements at the elastic supports are taken into account, are clearly formulated. The compatibility equations, in terms of forces in which the flexibilities of elastic supports are considered, are explicitly presented using the singular value decomposition (SVD technique. Both member and reaction forces are simultaneously and directly obtained. Then, all nodal displacements including constrained nodes are back calculated from the member and reaction forces. Next, the microgenetic algorithm (MGA is used to properly identify the site and the extent of multiple damages in truss structures. In order to verify the superiority of the current study, the numerical solutions are presented for the planar and space truss models with and without elastic supports. The numerical results indicate that the computational effort required by this study is found to be significantly lower than that of the displacement method.

  18. Genetic evidence for differential selection of grain and embryo weight during wheat evolution under domestication.

    Science.gov (United States)

    Golan, Guy; Oksenberg, Adi; Peleg, Zvi

    2015-09-01

    Wheat is one of the Neolithic founder crops domesticated ~10 500 years ago. Following the domestication episode, its evolution under domestication has resulted in various genetic modifications. Grain weight, embryo weight, and the interaction between those factors were examined among domesticated durum wheat and its direct progenitor, wild emmer wheat. Experimental data show that grain weight has increased over the course of wheat evolution without any parallel change in embryo weight, resulting in a significantly reduced (30%) embryo weight/grain weight ratio in domesticated wheat. The genetic factors associated with these modifications were further investigated using a population of recombinant inbred substitution lines that segregated for chromosome 2A. A cluster of loci affecting grain weight and shape was identified on the long arm of chromosome 2AL. Interestingly, a novel locus controlling embryo weight was mapped on chromosome 2AS, on which the wild emmer allele promotes heavier embryos and greater seedling vigour. To the best of our knowledge, this is the first report of a QTL for embryo weight in wheat. The results suggest a differential selection of grain and embryo weight during the evolution of domesticated wheat. It is argued that conscious selection by early farmers favouring larger grains and smaller embryos appears to have resulted in a significant change in endosperm weight/embryo weight ratio in the domesticated wheat. Exposing the genetic factors associated with endosperm and embryo size improves our understanding of the evolutionary dynamics of wheat under domestication and is likely to be useful for future wheat-breeding efforts.

  19. Genetic evidence of extra-pair paternity and intraspecific brood parasitism in the monk parakeet.

    Science.gov (United States)

    Martínez, Juan José; de Aranzamendi, María Carla; Masello, Juan F; Bucher, Enrique H

    2013-11-09

    The monk parakeet (Myiopsitta monachus) is a widespread invasive species native to southern South America that has become established in many regions of the world. Monk parakeets breed in a large, fully enclosed structure built from twigs, which consist of one to many individual brooding chambers. The species has been considered to be socially and genetically monogamous. However, genetic relatedness of adults to juveniles in the native area was found to be lower than expected for monogamy. To assess the significance of this discrepancy, we examined individual and population genetic patterns of microsatellite loci at two sites in Córdoba province, Argentina. We sampled 154 nestlings and 42 adults in Córdoba, Argentina. Mean value of pairwise relatedness of nestlings within chambers was about 0.40. Contrarily, relatedness of nestlings between chambers was close to zero. We found a considerable degree of variation in nestling pairwise relatedness and parentage within chambers, including chambers with combinations of unrelated, half-sib, and full-sib nestlings. The proportion of sibling relatedness indicated monogamy in 47% and extra pair-paternity in 40% of the chambers. We also found intra-brood parasitism in 3% of the chambers. Our results indicate that the monk parakeet is sexually polygamous in its native range in Argentina, which is consistent with the observed mean value of relatedness of adults to juveniles of about 0.4. We also confirm the existence of intra-brood parasitism. High density of monk parakeets may favor occurrence of extra-pair paternity and intra-brood parasitism in the native sites.

  20. Phylogeography and genetic structuring of European nine-spined sticklebacks (Pungitius pungitius-mitochondrial DNA evidence.

    Directory of Open Access Journals (Sweden)

    Amber G F Teacher

    Full Text Available As a consequence of colonisation from different glacial refugia, many northern European taxa are split into distinct western and eastern lineages. However, as for the nine-spined stickleback (Pungitius pungitius, the exact location of the contact zone between lineages often remains poorly known. We assessed the genetic differentiation and diversity in the nine-spined stickleback within Europe using 1037 base pairs of cytochrome b sequence for 320 individuals from 57 locations, including pond, lake, river, and coastal habitats. Our main aims were (i to locate the contact zone between the previously recognized western and eastern lineages, (ii investigate latitudinal patterns in genetic diversity, (iii compare genetic diversity among different habitat types, and (iv date the known split between eastern and western lineages. The data revealed the split between eastern and western to be located across the Danish Straits and roughly following the Norway/Sweden border to the North. Reference sites from Canada form their own clades, and one of the Canadian sites was found to have a haplotype common to the Eastern European lineage, possibly representing an ancestral polymorphism. The split between the two European clades was dated to approximately 1.48 million years ago (Mya, and between Canada and Europe to approximately 1.62 Mya. After controlling for habitat effects, nucleotide (but not haplotype diversity across populations decreased with increasing latitude. Coastal populations showed significantly higher haplotype diversity (but not nucleotide diversity than pond populations, but there were no detectable differences in haplotype diversity among different freshwater habitat types (viz. river, lake and pond populations, or between coastal and lake/river populations. Sequences were found to cluster according to their geographic proximity, rather than by habitat type, and all habitat types were found within each major clade, implying that colonisation

  1. Fossil and Genetic Evidence for the Polyphyletic Nature of the Planktonic Foraminifera "Globigerinoides", and Description of the New Genus Trilobatus

    Science.gov (United States)

    Spezzaferri, Silvia; Kucera, Michal; Pearson, Paul Nicholas; Wade, Bridget Susan; Rappo, Sacha; Poole, Christopher Robert; Morard, Raphaël; Stalder, Claudio

    2015-01-01

    Planktonic foraminifera are one of the most abundant and diverse protists in the oceans. Their utility as paleo proxies requires rigorous taxonomy and comparison with living and genetically related counterparts. We merge genetic and fossil evidence of “Globigerinoides”, characterized by supplementary apertures on spiral side, in a new approach to trace their “total evidence phylogeny” since their first appearance in the latest Paleogene. Combined fossil and molecular genetic data indicate that this genus, as traditionally understood, is polyphyletic. Both datasets indicate the existence of two distinct lineages that evolved independently. One group includes “Globigerinoides” trilobus and its descendants, the extant “Globigerinoides” sacculifer, Orbulina universa and Sphaeroidinella dehiscens. The second group includes the Globigerinoides ruber clade with the extant G. conglobatus and G. elongatus and ancestors. In molecular phylogenies, the trilobus group is not the sister taxon of the ruber group. The ruber group clusters consistently together with the modern Globoturborotalita rubescens as a sister taxon. The re-analysis of the fossil record indicates that the first “Globigerinoides” in the late Oligocene are ancestral to the trilobus group, whereas the ruber group first appeared at the base of the Miocene with representatives distinct from the trilobus group. Therefore, polyphyly of the genus "Globigerinoides" as currently defined can only be avoided either by broadening the genus concept to include G. rubescens and a large number of fossil species without supplementary apertures, or if the trilobus group is assigned to a separate genus. Since the former is not feasible due to the lack of a clear diagnosis for such a broad genus, we erect a new genus Trilobatus for the trilobus group (type species Globigerina triloba Reuss) and amend Globoturborotalita and Globigerinoides to clarify morphology and wall textures of these genera. In the new

  2. What supports do health system organizations have in place to facilitate evidence-informed decision-making? a qualitative study

    Science.gov (United States)

    2013-01-01

    Background Decisions regarding health systems are sometimes made without the input of timely and reliable evidence, leading to less than optimal health outcomes. Healthcare organizations can implement tools and infrastructures to support the use of research evidence to inform decision-making. Objectives The purpose of this study was to profile the supports and instruments (i.e., programs, interventions, instruments or tools) that healthcare organizations currently have in place and which ones were perceived to facilitate evidence-informed decision-making. Methods In-depth semi-structured telephone interviews were conducted with individuals in three different types of positions (i.e., a senior management team member, a library manager, and a ‘knowledge broker’) in three types of healthcare organizations (i.e., regional health authorities, hospitals and primary care practices) in two Canadian provinces (i.e., Ontario and Quebec). The interviews were taped, transcribed, and then analyzed thematically using NVivo 9 qualitative data analysis software. Results A total of 57 interviews were conducted in 25 organizations in Ontario and Quebec. The main findings suggest that, for the healthcare organizations that participated in this study, the following supports facilitate evidence-informed decision-making: facilitating roles that actively promote research use within the organization; establishing ties to researchers and opinion leaders outside the organization; a technical infrastructure that provides access to research evidence, such as databases; and provision and participation in training programs to enhance staff’s capacity building. Conclusions This study identified the need for having a receptive climate, which laid the foundation for the implementation of other tangible initiatives and supported the use of research in decision-making. This study adds to the literature on organizational efforts that can increase the use of research evidence in decision

  3. Genetic and biochemical markers in patients with Alzheimer's disease support a concerted systemic iron homeostasis dysregulation.

    Science.gov (United States)

    Crespo, Ângela C; Silva, Bruno; Marques, Liliana; Marcelino, Erica; Maruta, Carolina; Costa, Sónia; Timóteo, Angela; Vilares, Arminda; Couto, Frederico Simões; Faustino, Paula; Correia, Ana Paula; Verdelho, Ana; Porto, Graça; Guerreiro, Manuela; Herrero, Ana; Costa, Cristina; de Mendonça, Alexandre; Costa, Luciana; Martins, Madalena

    2014-04-01

    Alzheimer's disease (AD) is the most common form of dementia in the elderly individuals, resulting from a complex interaction between environmental and genetic factors. Impaired brain iron homeostasis has been recognized as an important mechanism underlying the pathogenesis of this disease. Nevertheless, the knowledge gathered so far at the systemic level is clearly insufficient. Herein, we used an integrative approach to study iron metabolism in the periphery, at both genotypic and phenotypic levels, in a sample of 116 patients with AD and 89 healthy control subjects. To assess the potential impact of iron metabolism on the risk of developing AD, genetic analyses were performed along with the evaluation of the iron status profile in peripheral blood by biochemical and gene expression studies. The results obtained showed a significant decrease of serum iron, ferritin, and transferrin concentrations in patients compared with the control subjects. Also, a significant decrease of ferroportin (SLC40A1) and both transferrin receptors TFRC and TFR2 transcripts was found in peripheral blood mononuclear cells from patients. At the genetic level, significant associations with AD were found for single nucleotide polymorphisms in TF, TFR2, ACO1, and SLC40A1 genes. Apolipoprotein E gene, a well-known risk factor for AD, was also found significantly associated with the disease in this study. Taken together, we hypothesize that the alterations on systemic iron status observed in patients could reflect an iron homeostasis dysregulation, particularly in cellular iron efflux. The intracellular iron accumulation would lead to a rise in oxidative damage, contributing to AD pathophysiology.

  4. A novel electronic assessment strategy to support applied Drosophila genetics training in university courses.

    Science.gov (United States)

    Fostier, Maggy; Patel, Sanjai; Clarke, Samantha; Prokop, Andreas

    2015-02-25

    The advent of "omic" technologies has revolutionized genetics and created a demand to focus classical genetics on its present-day applications (Redfield, 2012, PLoS Biol 10: e1001356). This demand can be met by training students in Drosophila mating scheme design, which is an important problem-solving skill routinely applied in many modern research laboratories. It promotes a thorough understanding and application of classical genetics rules and introduces to transgenic technologies and the use of model organisms. As we show here, such training can be implemented as a flexible and concise module (~1-day home study, ~8-hour course time) on university courses by using our previously published training package designed for fly researchers (Roote and Prokop, 2013, G3 (Bethesda) 3: 353-358). However, assessing this training to make it an accredited course element is difficult, especially in large courses. Here, we present a powerful assessment strategy based on a novel hybrid concept in which students solve crossing tasks initially on paper and then answer automatically marked questions on the computer (1.5 hours total). This procedure can be used to examine student performance on more complex tasks than conventional e-assessments and is more versatile, time-saving, and fairer than standard paper-based assignments. Our evaluation shows that the hybrid assessment is effective and reliably detects varying degrees of understanding among students. It also may be applicable in other disciplines requiring complex problem solving, such as mathematics, chemistry, physics, or informatics. Here, we describe our strategies in detail and provide all resources needed for their implementation.

  5. Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.

    Science.gov (United States)

    Kristiansson, Kati; Perola, Markus; Tikkanen, Emmi; Kettunen, Johannes; Surakka, Ida; Havulinna, Aki S; Stancáková, Alena; Barnes, Chris; Widen, Elisabeth; Kajantie, Eero; Eriksson, Johan G; Viikari, Jorma; Kähönen, Mika; Lehtimäki, Terho; Raitakari, Olli T; Hartikainen, Anna-Liisa; Ruokonen, Aimo; Pouta, Anneli; Jula, Antti; Kangas, Antti J; Soininen, Pasi; Ala-Korpela, Mika; Männistö, Satu; Jousilahti, Pekka; Bonnycastle, Lori L; Järvelin, Marjo-Riitta; Kuusisto, Johanna; Collins, Francis S; Laakso, Markku; Hurles, Matthew E; Palotie, Aarno; Peltonen, Leena; Ripatti, Samuli; Salomaa, Veikko

    2012-04-01

    Genome-wide association (GWA) studies have identified several susceptibility loci for metabolic syndrome (MetS) component traits, but have had variable success in identifying susceptibility loci to the syndrome as an entity. We conducted a GWA study on MetS and its component traits in 4 Finnish cohorts consisting of 2637 MetS cases and 7927 controls, both free of diabetes, and followed the top loci in an independent sample with transcriptome and nuclear magnetic resonance-based metabonomics data. Furthermore, we tested for loci associated with multiple MetS component traits using factor analysis, and built a genetic risk score for MetS. A previously known lipid locus, APOA1/C3/A4/A5 gene cluster region (SNP rs964184), was associated with MetS in all 4 study samples (P=7.23×10(-9) in meta-analysis). The association was further supported by serum metabolite analysis, where rs964184 was associated with various very low density lipoprotein, triglyceride, and high-density lipoprotein metabolites (P=0.024-1.88×10(-5)). Twenty-two previously identified susceptibility loci for individual MetS component traits were replicated in our GWA and factor analysis. Most of these were associated with lipid phenotypes, and none with 2 or more uncorrelated MetS components. A genetic risk score, calculated as the number of risk alleles in loci associated with individual MetS traits, was strongly associated with MetS status. Our findings suggest that genes from lipid metabolism pathways have the key role in the genetic background of MetS. We found little evidence for pleiotropy linking dyslipidemia and obesity to the other MetS component traits, such as hypertension and glucose intolerance.

  6. Elderly demand for family-based care and support: evidence from a social intervention strategy.

    Science.gov (United States)

    Aboagye, Emmanuel; Agyemang, Otuo Serebour; Tjerbo, Trond

    2013-12-06

    This paper examines the influence of the national health insurance scheme on elderly demand for family-based care and support. It contributes to the growing concern on the rapid increase in the elderly population globally using micro-level social theory to examine the influence the health insurance has on elderly demand for family support. A qualitative case study approach is applied to construct a comprehensive and thick description of how the national health insurance scheme influences the elderly in their demand for family support.Through focused interviews and direct observation of six selected cases, in-depth information on primary carers, living arrangement and the interaction between the health insurance as structure and elders as agents are analyzed. The study highlights that the interaction between the elderly and the national health insurance scheme has produced a new stratum of relationship between the elderly and their primary carers. Consequently, this has created equilibrium between the elderly demand for support and support made available by their primary carers. As the demand of the elderly for support is declining, supply of support by family members for the elderly is also on the decline.

  7. Genetic and environmental influences on type A behavior pattern: evidence from twins and their parents in the Netherlands Twin Register.

    Science.gov (United States)

    Rebollo, Irene; Boomsma, Dorret I

    2006-01-01

    There is a dose-response positive relationship between type A behavior (TABP) and cardiovascular disease-related symptoms. Estimates of heritability for TABP from previous studies vary; this might be explained by limitations in the sizes and compositions of the samples. This study combines a large sample size, twin and parental, data from males and females, two generations of young adults and older adults, and the use of structural equation modeling (SEM) and full information maximum likelihood (FIML) estimation. To assess TABP, the Jenkins Activity Survey (JAS) was collected from MZ and DZ twins and their parents (n = 1670 twin families). Structural equation modeling is used to evaluate and estimate the effects of additive and nonadditive genetic effects, nonshared environmental effects, and competitive sibling interaction. Forty-five percent of the variance in TABP was the result of genetic factors (28% were additive and 17% were nonadditive). The remaining 55% of the variance was explained by environmental factors not shared by the members of the same family. Competitive sibling interaction effects were not significant. There was no evidence of sex differences either in variances or means. Understanding the sources of variance on TABP is important for therapy and prevention. According to the present results, the relevant environmental factors for the development of TABP are not shared by the members of the same family. The genetic portion of the variance is also worth considering for therapeutic purposes. Although the genetic code cannot be altered, its effects on behavior may be modifiable through the treatment of the biological mediators.

  8. Genetic evidence that Drosophila frizzled controls planar cell polarity and Armadillo signaling by a common mechanism.

    Science.gov (United States)

    Povelones, Michael; Howes, Rob; Fish, Matt; Nusse, Roel

    2005-12-01

    The frizzled (fz) gene in Drosophila controls two distinct signaling pathways: it directs the planar cell polarization (PCP) of epithelia and it regulates cell fate decisions through Armadillo (Arm) by acting as a receptor for the Wnt protein Wingless (Wg). With the exception of dishevelled (dsh), the genes functioning in these two pathways are distinct. We have taken a genetic approach, based on a series of new and existing fz alleles, for identifying individual amino acids required for PCP or Arm signaling. For each allele, we have attempted to quantify the strength of signaling by phenotypic measurements. For PCP signaling, the defect was measured by counting the number of cells secreting multiple hairs in the wing. We then examined each allele for its ability to participate in Arm signaling by the rescue of fz mutant embryos with maternally provided fz function. For both PCP and Arm signaling we observed a broad range of phenotypes, but for every allele there is a strong correlation between its phenotypic strength in each pathway. Therefore, even though the PCP and Arm signaling pathways are genetically distinct, the set of signaling-defective fz alleles affected both pathways to a similar extent. This suggests that fz controls these two different signaling activities by a common mechanism. In addition, this screen yielded a set of missense mutations that identify amino acids specifically required for fz signaling function.

  9. Evidence of two co-circulating genetic lineages of canine distemper virus in South America.

    Science.gov (United States)

    Panzera, Yanina; Calderón, Marina Gallo; Sarute, Nicolás; Guasco, Soledad; Cardeillac, Arianne; Bonilla, Braulio; Hernández, Martín; Francia, Lourdes; Bedó, Gabriela; La Torre, José; Pérez, Ruben

    2012-01-01

    Canine distemper virus (CDV) is the etiological agent of a multisystemic infection that affects different species of carnivores and is responsible for one of the main diseases suffered by dogs. Recent data have shown a worldwide increase in the incidence of the disease, including in vaccinated dog populations, which necessitates the analysis of circulating strains. The hemagglutinin (H) gene, which encodes the major antigenic viral protein, has been widely used to determine the degree of genetic variability and to associate CDVs in different worldwide circulating lineages. Here, we obtained the sequence of the first full-length H gene of field South American CDV strains and compared it with sequences of worldwide circulating field strains and vaccine viruses. In South America, we detect two co-circulating lineages with different prevalences: the Europe 1 lineage and a new South America 2 lineage. The Europe 1 lineage was the most prevalent in South America, and we suggest renaming it the Europe 1/South America 1 lineage. The South America 2 lineage was found only in Argentina and appears related to wild CDV strains. All South American CDV strains showed high amino-acid divergence from vaccine strains. This genetic variability may be a possible factor leading to the resurgence of distemper cases in vaccinated dog populations.

  10. Genetic structure of Mount Huang honey bee (Apis cerana) populations: evidence from microsatellite polymorphism.

    Science.gov (United States)

    Liu, Fang; Shi, Tengfei; Huang, Sisi; Yu, Linsheng; Bi, Shoudong

    2016-01-01

    The Mount Huang eastern honey bees (Apis cerana) are an endemic population, which is well adapted to the local agricultural and ecological environment. In this study, the genetic structure of seven eastern honey bees (A. cerana) populations from Mount Huang in China were analyzed by SSR (simple sequence repeat) markers. The results revealed that 16 pairs of primers used amplified a total of 143 alleles. The number of alleles per locus ranged from 6 to 13, with a mean value of 8.94 alleles per locus. Observed and expected heterozygosities showed mean values of 0.446 and 0.831 respectively. UPGMA cluster analysis grouped seven eastern honey bees in three groups. The results obtained show a high genetic diversity in the honey bee populations studied in Mount Huang, and high differentiation among all the populations, suggesting that scarce exchange of honey bee species happened in Mount Huang. Our study demonstrated that the Mount Huang honey bee populations still have a natural genome worth being protected for conservation.

  11. Evidence for coordinate genetic control of Na,K pump density in erythrocytes and lymphocytes

    Energy Technology Data Exchange (ETDEWEB)

    DeLuise, M.; Flier, J.S.

    1985-08-01

    The erythrocyte is widely used as a model cell for studies of the Na,K pump in health and disease. However, little is known about the factors that control the number of Na,K pumps expressed on the erythrocytes of a given individual, nor about the extent to which erythrocytes can be used to validly assess the pump density on other cell types. In this report, the authors have compared the interindividual variance of Na,K pump density in erythrocytes of unrelated individuals to that seen with identical twins. Unlike unrelated individuals, in whom pump parameters, i.e., ouabain binding sites, /sup 86/Rb uptake, and cell Na concentration vary widely, identical twin pairs showed no significant intrapair variation for these values. Thus, a role for genetic factors is suggested. In addition, the authors established and validated a method for determining Na,K pump density and pump-mediated /sup 86/Rb uptake in human peripheral lymphocytes. Using this method, they show that whereas Na,K pump density differs markedly between erythrocytes (mean of 285 sites per cell) and lymphocytes (mean 40,600 sites per cell), there is a strong and highly significant correlation (r = 0.79, P less than 0.001) between the pump density in these cell types in any given individual. Taken together, these studies suggest that genetic factors are important determinants of Na,K pump expression, and that pump density appears to be coordinately regulated in two cell types in healthy individuals.

  12. Genetic evidence for complexity in ethnic differentiation and history in East Africa.

    Science.gov (United States)

    Poloni, Estella S; Naciri, Yamama; Bucho, Rute; Niba, Régine; Kervaire, Barbara; Excoffier, Laurent; Langaney, André; Sanchez-Mazas, Alicia

    2009-11-01

    The Afro-Asiatic and Nilo-Saharan language families come into contact in Western Ethiopia. Ethnic diversity is particularly high in the South, where the Nilo-Saharan Nyangatom and the Afro-Asiatic Daasanach dwell. Despite their linguistic differentiation, both populations rely on a similar agripastoralist mode of subsistence. Analysis of mitochondrial DNA extracted from Nyangatom and Daasanach archival sera revealed high levels of diversity, with most sequences belonging to the L haplogroups, the basal branches of the mitochondrial phylogeny. However, in sharp contrast with other Ethiopian populations, only 5% of the Nyangatom and Daasanach sequences belong to haplogroups M and N. The Nyangatom and Daasanach were found to be significantly differentiated, while each of them displays close affinities with some Tanzanian populations. The strong genetic structure found over East Africa was neither associated with geography nor with language, a result confirmed by the analysis of 6711 HVS-I sequences of 136 populations mainly from Africa. Processes of migration, language shift and group absorption are documented by linguists and ethnographers for the Nyangatom and Daasanach, thus pointing to the probably transient and plastic nature of these ethnic groups. These processes, associated with periods of isolation, could explain the high diversity and strong genetic structure found in East Africa.

  13. [Online information service: the library support for evidence-based practice].

    Science.gov (United States)

    Markulin, Helena; Petrak, Jelka

    2014-01-01

    It frequently happens that physicians do not have adequate skills or enough time for searching and evaluating evidence needed in their everyday practice. Medical librarian can serve as a mediator in enabling physicians to utilize the potential offered by contemporary evidence-based medicine. The Central Medical Library (CML) at University of Zagreb, School of Medicine, designed a web-based information service aimed at the promotion of evidence-based practice in the Croatian medical community. The users can ask for a help in finding information on their clinical problems. A responsible librarian will analyse the problem, search information resources and evaluate the evidence. The answer is returned to the user by an e-mail. In the 2008-2012 period 166 questions from 12 clinical fields were received and most of them (36.1%) came from internal medicine doctors. The share of treatment-related questions was 70.5%. In the setting of underdeveloped ICT infrastructure and inadequate EBM resources availability, such information service can help in transfer of scientific evidence into the everyday clinical practice.

  14. Enhanced Genetic Analysis of Single Human Bioparticles Recovered by Simplified Micromanipulation from Forensic ‘Touch DNA’ Evidence

    Science.gov (United States)

    Farash, Katherine; Hanson, Erin K.; Ballantyne, Jack

    2015-01-01

    DNA profiles can be obtained from ‘touch DNA’ evidence, which comprises microscopic traces of human biological material. Current methods for the recovery of trace DNA employ cotton swabs or adhesive tape to sample an area of interest. However, such a ‘blind-swabbing’ approach will co-sample cellular material from the different individuals, even if the individuals’ cells are located in geographically distinct locations on the item. Thus, some of the DNA mixtures encountered in touch DNA samples are artificially created by the swabbing itself. In some instances, a victim’s DNA may be found in significant excess thus masking any potential perpetrator’s DNA. In order to circumvent the challenges with standard recovery and analysis methods, we have developed a lower cost, ‘smart analysis’ method that results in enhanced genetic analysis of touch DNA evidence. We describe an optimized and efficient micromanipulation recovery strategy for the collection of bio-particles present in touch DNA samples, as well as an enhanced amplification strategy involving a one-step 5 µl microvolume lysis/STR amplification to permit the recovery of STR profiles from the bio-particle donor(s). The use of individual or few (i.e., “clumps”) bioparticles results in the ability to obtain single source profiles. These procedures represent alternative enhanced techniques for the isolation and analysis of single bioparticles from forensic touch DNA evidence. While not necessary in every forensic investigation, the method could be highly beneficial for the recovery of a single source perpetrator DNA profile in cases involving physical assault (e.g., strangulation) that may not be possible using standard analysis techniques. Additionally, the strategies developed here offer an opportunity to obtain genetic information at the single cell level from a variety of other non-forensic trace biological material. PMID:25867046

  15. Danish evidence-based clinical guideline for use of nutritional support in pulmonary rehabilitation of undernourished patients with stable COPD

    DEFF Research Database (Denmark)

    Beck, Anne Marie; Iepsen, Ulrik Winning; Topperup, Randi;

    2015-01-01

    Background and aims Disease-related under-nutrition is a common problem in individuals with COPD. The rationale for nutritional support in pulmonary rehabilitation therefore seems obvious. However there is limited evidence regarding the patient-relevant outcomes i.e. activities of daily living (ADL......, or meta-analyses from existing guidelines or systematic reviews were adapted. The results were used for labeling and wording of the recommendations. Results Data from 12 randomized controlled trials were included in a systematic review, which formed the basis for our recommendations as no new primary...... studies had been published. There were evidence of moderate quality that nutritional support for undernourished patients with COPD lead to a weight gain of 1.7 kg (95% confidence interval: 1.3 to 2.2 kg), but the effect was quantified as a mean change from baseline, which is less reliable. There were...

  16. Phylogeography, genetic structure and population divergence time of cheetahs in Africa and Asia: evidence for long-term geographic isolates

    Science.gov (United States)

    Charruau, P; Fernandes, C; Orozco-terWengel, P; Peters, J; Hunter, L; Ziaie, H; Jourabchian, A; Jowkar, H; Schaller, G; Ostrowski, S; Vercammen, P; Grange, T; Schlötterer, C; Kotze, A; Geigl, E-M; Walzer, C; Burger, P A

    2011-01-01

    The cheetah (Acinonyx jubatus) has been described as a species with low levels of genetic variation. This has been suggested to be the consequence of a demographic bottleneck 10 000–12 000 years ago (ya) and also led to the assumption that only small genetic differences exist between the described subspecies. However, analysing mitochondrial DNA and microsatellites in cheetah samples from most of the historic range of the species we found relatively deep phylogeographic breaks between some of the investigated populations, and most of the methods assessed divergence time estimates predating the postulated bottleneck. Mitochondrial DNA monophyly and overall levels of genetic differentiation support the distinctiveness of Northern-East African cheetahs (Acinonyx jubatus soemmeringii). Moreover, combining archaeozoological and contemporary samples, we show that Asiatic cheetahs (Acinonyx jubatus venaticus) are unambiguously separated from African subspecies. Divergence time estimates from mitochondrial and nuclear data place the split between Asiatic and Southern African cheetahs (Acinonyx jubatus jubatus) at 32 000–67 000 ya using an average mammalian microsatellite mutation rate and at 4700–44 000 ya employing human microsatellite mutation rates. Cheetahs are vulnerable to extinction globally and critically endangered in their Asiatic range, where the last 70–110 individuals survive only in Iran. We demonstrate that these extant Iranian cheetahs are an autochthonous monophyletic population and the last representatives of the Asiatic subspecies A. j. venaticus. We advocate that conservation strategies should consider the uncovered independent evolutionary histories of Asiatic and African cheetahs, as well as among some African subspecies. This would facilitate the dual conservation priorities of maintaining locally adapted ecotypes and genetic diversity. PMID:21214655

  17. Genetic analysis of invasive Asian Black Carp (Mylopharyngodon piceus) in the Mississippi River Basin: evidence for multiple introductions

    Science.gov (United States)

    Hunter, Margaret E.; Nico, Leo G.

    2015-01-01

    Invasive Asian Black Carp (Mylopharyngodon piceus) have been present in USA aquaculture facilities since the 1980s and wild Black Carp have been found in the Mississippi River Basin since the early 1990s. This study characterizes the genetic diversity and relatedness of the Basin’s Black Carp and clarifies the introduction history. Analyses focused on three mitochondrial markers (control region, cytochrome-b, and 16S) and seven nuclear microsatellite markers (nDNA), using aquaculture and wild-caught samples collected in the upper and lower Mississippi Basin. Of the three mitochondrial haplotypes, two were shared between the aquaculture and wild populations, while a third was only present in upper Mississippi wild-caught specimens. Due to the presence of diploid and triploid fish, microsatellite markers were scored as pseudodominant and revealed low polymorphism (NA = 4.6, NA Ave = 1.5). Nuclear Bayesian clustering analyses identified two genetically distinct groups and four subclusters, each primarily composed of a unique haplotype. Samples from three aquaculture farms were assigned to group 1, while a fourth farm included samples from both groups 1 and 2. Wild-caught fish from the upper Basin were predominantly group 1, whereas wild samples from the lower Mississippi were assigned to both genetic groups. The presence of divergent haplotypes and distinct nDNA groups, along with geographic distribution patterns, indicate that wild populations in the basin likely resulted from multiple introductions. Genetic similarities between wild and captive populations support claims that aquaculture is the introduction source, but a shortage of samples and a history of repeated transfers among facilities obscure the precise pathway.

  18. Phylogeography, genetic structure and population divergence time of cheetahs in Africa and Asia: evidence for long-term geographic isolates.

    Science.gov (United States)

    Charruau, P; Fernandes, C; Orozco-Terwengel, P; Peters, J; Hunter, L; Ziaie, H; Jourabchian, A; Jowkar, H; Schaller, G; Ostrowski, S; Vercammen, P; Grange, T; Schlötterer, C; Kotze, A; Geigl, E-M; Walzer, C; Burger, P A

    2011-02-01

    The cheetah (Acinonyx jubatus) has been described as a species with low levels of genetic variation. This has been suggested to be the consequence of a demographic bottleneck 10 000-12 000 years ago (ya) and also led to the assumption that only small genetic differences exist between the described subspecies. However, analysing mitochondrial DNA and microsatellites in cheetah samples from most of the historic range of the species we found relatively deep phylogeographic breaks between some of the investigated populations, and most of the methods assessed divergence time estimates predating the postulated bottleneck. Mitochondrial DNA monophyly and overall levels of genetic differentiation support the distinctiveness of Northern-East African cheetahs (Acinonyx jubatus soemmeringii). Moreover, combining archaeozoological and contemporary samples, we show that Asiatic cheetahs (Acinonyx jubatus venaticus) are unambiguously separated from African subspecies. Divergence time estimates from mitochondrial and nuclear data place the split between Asiatic and Southern African cheetahs (Acinonyx jubatus jubatus) at 32 000-67 000 ya using an average mammalian microsatellite mutation rate and at 4700-44 000 ya employing human microsatellite mutation rates. Cheetahs are vulnerable to extinction globally and critically endangered in their Asiatic range, where the last 70-110 individuals survive only in Iran. We demonstrate that these extant Iranian cheetahs are an autochthonous monophyletic population and the last representatives of the Asiatic subspecies A. j. venaticus. We advocate that conservation strategies should consider the uncovered independent evolutionary histories of Asiatic and African cheetahs, as well as among some African subspecies. This would facilitate the dual conservation priorities of maintaining locally adapted ecotypes and genetic diversity.

  19. Genetic evidence of a causal effect of insulin resistance on branched-chain amino acid levels

    DEFF Research Database (Denmark)

    Mahendran, Yuvaraj; Jonsson, Anna; Have, Christian T

    2017-01-01

    AIMS/HYPOTHESIS: Fasting plasma levels of branched-chain amino acids (BCAAs) are associated with insulin resistance, but it remains unclear whether there is a causal relation between the two. We aimed to disentangle the causal relations by performing a Mendelian randomisation study using genetic...... variants associated with circulating BCAA levels and insulin resistance as instrumental variables. METHODS: We measured circulating BCAA levels in blood plasma by NMR spectroscopy in 1,321 individuals from the ADDITION-PRO cohort. We complemented our analyses by using previously published genome...... variable for insulin resistance. A GRS of three variants increasing circulating BCAA levels was used as an instrumental variable for circulating BCAA levels. RESULTS: Fasting plasma BCAA levels were associated with higher HOMA-IR in ADDITION-PRO (β 0.137 [95% CI 0.08, 0.19] p = 6 × 10(-7)). However...

  20. POPULATION GENETICS. Genomic evidence for the Pleistocene and recent population history of Native Americans.

    Science.gov (United States)

    Raghavan, Maanasa; Steinrücken, Matthias; Harris, Kelley; Schiffels, Stephan; Rasmussen, Simon; DeGiorgio, Michael; Albrechtsen, Anders; Valdiosera, Cristina; Ávila-Arcos, María C; Malaspinas, Anna-Sapfo; Eriksson, Anders; Moltke, Ida; Metspalu, Mait; Homburger, Julian R; Wall, Jeff; Cornejo, Omar E; Moreno-Mayar, J Víctor; Korneliussen, Thorfinn S; Pierre, Tracey; Rasmussen, Morten; Campos, Paula F; Damgaard, Peter de Barros; Allentoft, Morten E; Lindo, John; Metspalu, Ene; Rodríguez-Varela, Ricardo; Mansilla, Josefina; Henrickson, Celeste; Seguin-Orlando, Andaine; Malmström, Helena; Stafford, Thomas; Shringarpure, Suyash S; Moreno-Estrada, Andrés; Karmin, Monika; Tambets, Kristiina; Bergström, Anders; Xue, Yali; Warmuth, Vera; Friend, Andrew D; Singarayer, Joy; Valdes, Paul; Balloux, Francois; Leboreiro, Ilán; Vera, Jose Luis; Rangel-Villalobos, Hector; Pettener, Davide; Luiselli, Donata; Davis, Loren G; Heyer, Evelyne; Zollikofer, Christoph P E; Ponce de León, Marcia S; Smith, Colin I; Grimes, Vaughan; Pike, Kelly-Anne; Deal, Michael; Fuller, Benjamin T; Arriaza, Bernardo; Standen, Vivien; Luz, Maria F; Ricaut, Francois; Guidon, Niede; Osipova, Ludmila; Voevoda, Mikhail I; Posukh, Olga L; Balanovsky, Oleg; Lavryashina, Maria; Bogunov, Yuri; Khusnutdinova, Elza; Gubina, Marina; Balanovska, Elena; Fedorova, Sardana; Litvinov, Sergey; Malyarchuk, Boris; Derenko, Miroslava; Mosher, M J; Archer, David; Cybulski, Jerome; Petzelt, Barbara; Mitchell, Joycelynn; Worl, Rosita; Norman, Paul J; Parham, Peter; Kemp, Brian M; Kivisild, Toomas; Tyler-Smith, Chris; Sandhu, Manjinder S; Crawford, Michael; Villems, Richard; Smith, David Glenn; Waters, Michael R; Goebel, Ted; Johnson, John R; Malhi, Ripan S; Jakobsson, Mattias; Meltzer, David J; Manica, Andrea; Durbin, Richard; Bustamante, Carlos D; Song, Yun S; Nielsen, Rasmus; Willerslev, Eske

    2015-08-21

    How and when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we found that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (ka) and after no more than an 8000-year isolation period in Beringia. After their arrival to the Americas, ancestral Native Americans diversified into two basal genetic branches around 13 ka, one that is now dispersed across North and South America and the other restricted to North America. Subsequent gene flow resulted in some Native Americans sharing ancestry with present-day East Asians (including Siberians) and, more distantly, Australo-Melanesians. Putative "Paleoamerican" relict populations, including the historical Mexican Pericúes and South American Fuego-Patagonians, are not directly related to modern Australo-Melanesians as suggested by the Paleoamerican Model.

  1. Evidence for karyogamy and exchange of genetic material in the binucleate intestinal parasite Giardia intestinalis.

    Science.gov (United States)

    Poxleitner, Marianne K; Carpenter, Meredith L; Mancuso, Joel J; Wang, Chung-Ju R; Dawson, Scott C; Cande, W Zacheus

    2008-03-14

    The diplomonad parasite Giardia intestinalis contains two functionally equivalent nuclei that are inherited independently during mitosis. Although presumed to be asexual, Giardia has low levels of allelic heterozygosity, indicating that the two nuclear genomes may exchange genetic material. Fluorescence in situ hybridization performed with probes to an episomal plasmid suggests that plasmids are transferred between nuclei in the cyst, and transmission electron micrographs demonstrate fusion between cyst nuclei. Green fluorescent protein fusions of giardial homologs of meiosis-specific genes localized to the nuclei of cysts, but not the vegetative trophozoite. These data suggest that the fusion of nuclei, or karyogamy, and subsequently somatic homologous recombination facilitated by the meiosis gene homologs, occur in the giardial cyst.

  2. Evidence for genetic influences on neurotransmitter content of identified neurones of Lymnaea stagnalis.

    Science.gov (United States)

    Audesirk, G; Audesirk, T; McCaman, R E; Ono, J K

    1985-01-01

    Neurotransmitter content was measured in two identified giant neurones in isogenic and wild-type populations of the freshwater pond snail Lymnaea stagnalis. The paired serotonergic cerebral giant neurones (LC1 and RC1) have higher transmitter levels and less variability in inbred animals than in wild-type animals. The transmitter content of the unpaired dopaminergic right pedal giant neurone (RPeD1) does not differ between inbred and wild-type animals in either level or variability. It is proposed that serotonin content of the cerebral giant neurones is under partial genetic control, and that animals of the wild-type population may possess a number of different alleles for the genes influencing serotonin levels. Inbreeding resulted in fixation of an allele promoting high serotonin levels. This particular wild-type population is probably already isogenic for genes influencing dopamine content in the right pedal giant neurone.

  3. Counterpoint: The evidence does not support universal screening and treatment in children.

    Science.gov (United States)

    Belamarich, Peter F

    2015-01-01

    Few pediatric guidelines have generated the amount or intensity of controversy that the pediatric lipid guidelines have. In the following article, I will synthesize the arguments against universal lipid screening and treatment in childhood. Direct evidence that relates the presence of cardiovascular risk factors in childhood to cardiovascular disease outcomes in adulthood is unavailable, and as a consequence, the guidelines were formulated based on a chain of indirect evidence. The debate centers on the strength of the indirect evidence that links risk factors present in childhood to adult disease outcomes. The arguments against universal lipid screening and treatment of children include (1) a history of unanticipated harms caused by screening tests or treatments that were enacted based on indirect evidence, (2) the poor test performance characteristics of lipid profiles in childhood when used as a screening test, (3) problems with the effectiveness of lipid testing done in the office setting, and (4) concerns regarding the safety of statins when used in children. Copyright © 2015 National Lipid Association. Published by Elsevier Inc. All rights reserved.

  4. Education Resources Needed to Support the Teaching of Evidence-Based Practices

    Science.gov (United States)

    Edmundson, Eldon; Gallon, Steve; Porter, John

    2007-01-01

    The Northwest Frontier Addiction Technology Transfer Center surveyed addiction educators, providers and policy makers in Northwest states and Hawaii to define teaching resources and barriers in the teaching of evidence-based practices for the preparation of addiction professionals. The top three teaching resource needs were example student…

  5. Validity-Supporting Evidence of the Self-Efficacy for Teaching Mathematics Instrument

    Science.gov (United States)

    McGee, Jennifer R.; Wang, Chuang

    2014-01-01

    The purpose of this study is to provide evidence of reliability and validity of the Self-Efficacy for Teaching Mathematics Instrument (SETMI). Self-efficacy, as defined by Bandura, was the theoretical framework for the development of the instrument. The complex belief systems of mathematics teachers, as touted by Ernest provided insights into the…

  6. Is There Evidence to Support the Use of Social Skills Interventions for Students with Emotional Disabilities?

    Science.gov (United States)

    Sullivan, Amanda L.; Sadeh, Shanna S.

    2014-01-01

    Scholars and practitioners advocate for the use of social skills interventions for students with emotional disabilities because significant social skills deficits are common among these students. Yet contemporary practices must be vetted for empirical evidence of their efficacy and effectiveness to ensure students are provided appropriate…

  7. Evidence supporting the use of cone-beam computed tomography in orthodontics.

    NARCIS (Netherlands)

    Vlijmen, O.J.C. van; Kuijpers, M.A.R.; Berge, S.J.; Schols, J.G.J.H.; Maal, T.J.J.; Breuning, H.; Kuijpers-Jagtman, A.M.

    2012-01-01

    BACKGROUND: The authors conducted a systematic review of cone-beam computed tomography (CBCT) applications in orthodontics and evaluated the level of evidence to determine whether the use of CBCT is justified in orthodontics. TYPES OF STUDIES REVIEWED: The authors identified articles by searching th

  8. Three PubMed skills to support evidence-based dentistry.

    Science.gov (United States)

    Deahl, S Thomas

    2011-02-01

    The National Library of Medicine's PubMed database can powerfully assist dentists in evidence-based practice. Three useful PubMed skills can improve the efficiency of the clinician's search: (1) Use of MeSH terms; (2) Use of Limits; (3) Use of Clinical Queries.

  9. Make the Case for Coaching: Bolster Support with Evidence That Coaching Makes a Difference

    Science.gov (United States)

    Eisenberg, Ellen; Medrich, Elliott

    2013-01-01

    Policymakers want to see evidence that coaching makes a difference for teachers and students. To this group, making a difference means improving performance on standardized tests. In the current fiscal climate, leaders want to know not only that their investments are based on firm grounds theoretically, but also that instructional coaching works.…

  10. Evidence supporting the use of cone-beam computed tomography in orthodontics.

    NARCIS (Netherlands)

    Vlijmen, O.J.C. van; Kuijpers, M.A.R.; Berge, S.J.; Schols, J.G.J.H.; Maal, T.J.J.; Breuning, H.; Kuijpers-Jagtman, A.M.

    2012-01-01

    BACKGROUND: The authors conducted a systematic review of cone-beam computed tomography (CBCT) applications in orthodontics and evaluated the level of evidence to determine whether the use of CBCT is justified in orthodontics. TYPES OF STUDIES REVIEWED: The authors identified articles by searching

  11. Evidence of new risk genetic factor to systemic lupus erythematosus: the UBASH3A gene.

    Directory of Open Access Journals (Sweden)

    Lina-Marcela Diaz-Gallo

    Full Text Available The ubiquitin associated and Src-homology 3 (SH3 domain containing A (UBASH3a is a suppressor of T-cell receptor signaling, underscoring antigen presentation to T-cells as a critical shared mechanism of diseases pathogenesis. The aim of the present study was to determine whether the UBASH3a gene influence the susceptibility to systemic lupus erythematosus (SLE in Caucasian populations. We evaluated five UBASH3a polymorphisms (rs2277798, rs2277800, rs9976767, rs13048049 and rs17114930, using TaqMan® allelic discrimination assays, in a discovery cohort that included 906 SLE patients and 1165 healthy controls from Spain. The SNPs that exhibit statistical significance difference were evaluated in a German replication cohort of 360 SLE patients and 379 healthy controls. The case-control analysis in the Spanish population showed a significant association between the rs9976767 and SLE (Pc = 9.9E-03 OR = 1.21 95%CI = 1.07-1.37 and a trend of association for the rs2277798 analysis (P = 0.09 OR = 0.9 95%CI = 0.79-1.02. The replication in a German cohort and the meta-analysis confirmed that the rs9976767 (Pc = 0.02; Pc = 2.4E-04, for German cohort and meta-analysis, respectively and rs2277798 (Pc = 0.013; Pc = 4.7E-03, for German cohort and meta-analysis, respectively UBASH3a variants are susceptibility factors for SLE. Finally, a conditional regression analysis suggested that the most likely genetic variation responsible for the association was the rs9976767 polymorphism. Our results suggest that UBASH3a gene plays a role in the susceptibility to SLE. Moreover, our study indicates that UBASH3a can be considered as a common genetic factor in autoimmune diseases.

  12. Striatal-enriched protein tyrosine phosphatase modulates nociception: evidence from genetic deletion and pharmacological inhibition.

    Science.gov (United States)

    Azkona, Garikoitz; Saavedra, Ana; Aira, Zigor; Aluja, David; Xifró, Xavier; Baguley, Tyler; Alberch, Jordi; Ellman, Jonathan A; Lombroso, Paul J; Azkue, Jon J; Pérez-Navarro, Esther

    2016-02-01

    The information from nociceptors is processed in the dorsal horn of the spinal cord by complex circuits involving excitatory and inhibitory interneurons. It is well documented that GluN2B and ERK1/2 phosphorylation contributes to central sensitization. Striatal-enriched protein tyrosine phosphatase (STEP) dephosphorylates GluN2B and ERK1/2, promoting internalization of GluN2B and inactivation of ERK1/2. The activity of STEP was modulated by genetic (STEP knockout mice) and pharmacological (recently synthesized STEP inhibitor, TC-2153) approaches. STEP(61) protein levels in the lumbar spinal cord were determined in male and female mice of different ages. Inflammatory pain was induced by complete Freund's adjuvant injection. Behavioral tests, immunoblotting, and electrophysiology were used to analyze the effect of STEP on nociception. Our results show that both genetic deletion and pharmacological inhibition of STEP induced thermal hyperalgesia and mechanical allodynia, which were accompanied by increased pGluN2B(Tyr1472) and pERK1/2(Thr202/Tyr204)levels in the lumbar spinal cord. Striatal-enriched protein tyrosine phosphatase heterozygous and knockout mice presented a similar phenotype. Furthermore, electrophysiological experiments showed that TC-2153 increased C fiber-evoked spinal field potentials. Interestingly, we found that STEP(61) protein levels in the lumbar spinal cord inversely correlated with thermal hyperalgesia associated with age and female gen