783 research outputs found

    Reconstructing Roma History from Genome-Wide Data

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    The Roma people, living throughout Europe and West Asia, are a diverse population linked by the Romani language and culture. Previous linguistic and genetic studies have suggested that the Roma migrated into Europe from South Asia about 1,000–1,500 years ago. Genetic inferences about Roma history have mostly focused on the Y chromosome and mitochondrial DNA. To explore what additional information can be learned from genome-wide data, we analyzed data from six Roma groups that we genotyped at hundreds of thousands of single nucleotide polymorphisms (SNPs). We estimate that the Roma harbor about 80% West Eurasian ancestry–derived from a combination of European and South Asian sources–and that the date of admixture of South Asian and European ancestry was about 850 years before present. We provide evidence for Eastern Europe being a major source of European ancestry, and North-west India being a major source of the South Asian ancestry in the Roma. By computing allele sharing as a measure of linkage disequilibrium, we estimate that the migration of Roma out of the Indian subcontinent was accompanied by a severe founder event, which appears to have been followed by a major demographic expansion after the arrival in Europe.Országos Tudományos Kutatási Alapprogramok (OTKA K 103983)Országos Tudományos Kutatási Alapprogramok (OTKA 73430)National Science Foundation (U.S.) (HOMINID grant 1032255)National Institutes of Health (U.S.) (grant GM100233

    A linguistic approach to assess the dynamics of design team preference in concept selection

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    This paper addresses the problem of describing the decision-making process of a committee of engineers based upon their verbalized linguistic appraisals of alternatives. First, we show a way to model an individual’s evaluation of an alternative through natural language based on the Systemic-Functional Linguistics system of APPRAISAL. The linguistic model accounts for both the degree of intensity and the uncertainty of expressed evaluations. Second, this multi-dimensional linguistic model is converted into a scalar to represent the degree of intensity and a probability distribution function for the stated evaluation. Finally, we present a Markovian model to calculate the time-varying change in preferential probability, the probability that an alternative is the most preferred alternative. We further demonstrate how preferential probability toward attributes of alternatives correspond to preferential probability toward alternatives. We illustrate the method on two case studies to highlight the time-variant dynamics of preferences toward alternatives and attributes. This research contributes to process tracing in descriptive decision science to understand how engineers actually take decisions.National Science Foundation (U.S.) (Award CMMI-0900255

    The Nuclear Transcription Factor PKNOX2 Is a Candidate Gene for Substance Dependence in European-Origin Women

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    Substance dependence or addiction is a complex environmental and genetic disorder that results in serious health and socio-economic consequences. Multiple substance dependence categories together, rather than any one individual addiction outcome, may explain the genetic variability of such disorder. In our study, we defined a composite substance dependence phenotype derived from six individual diagnoses: addiction to nicotine, alcohol, marijuana, cocaine, opiates or other drugs as a whole. Using data from several genomewide case-control studies, we identified a strong (Odds ratio  = 1.77) and significant (p-value = 7E-8) association signal with a novel gene, PBX/knotted 1 homeobox 2 (PKNOX2), on chromosome 11 with the composite phenotype in European-origin women. The association signal is not as significant when individual outcomes for addiction are considered, or in males or African-origin population. Our findings underscore the importance of considering multiple addiction types and the importance of considering population and gender stratification when analyzing data with heterogeneous population

    Intraoperative blood pressure changes as a risk factor for anastomotic leakage in colorectal surgery

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    Anastomotic leakage is a serious complication after colorectal surgery. Pre- and intraoperative factors may contribute to failure of colorectal anastomosis. In this study we have tried to determine risk factors for anastomotic leakage, with special emphasis on intraoperative blood pressure changes. During a 24-month period, patients receiving a colorectal anastomosis were prospectively evaluated. For each patient preoperative characteristics, intraoperative adverse events and surgical outcome data were collected. Blood pressure changes were calculated as a relative decrease (> 25% and > 40%) from preoperative baseline values. During the study period, 285 patients underwent colorectal surgery with an anastomosis. Fifteen patients developed an anastomotic leakage (5.3%). All patients who developed a leakage had a left-sided procedure (P 40% decrease in diastolic blood pressure (P = 0.049)] were identified as univariate risk factors for anastomotic leakage. The development of an anastomotic leakage after colorectal surgery is related to surgical, patient and anaesthetic risk factors. A high preoperative diastolic blood pressure and profound intraoperative hypotension combined with complex surgery, marked by a blood loss of a parts per thousand yen250 mL and the occurrence of intraoperative adverse events, is associated with an increased risk of developing anastomotic leakag

    Changes in the Policy Environment For Infant and Young Child feeding in Vietnam, Bangladesh, and Ethiopia, and the Role of Targeted Advocacy

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    There is limited literature examining shifts in policy environments for nutrition and infant and young child feeding (IYCF) over time, and on the potential contribution of targeted advocacy to improved policy environments in low- and middle-income countries. This study tracked changes in the policy environment over a four-year period in three countries, and examined the role of targeted nutrition and IYCF advocacy strategies by a global initiative

    Different diversity-dependent declines in speciation rate unbalances species richness in terrestrial slugs

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    Two genera of terrestrial slugs (Arion and Geomalacus) display a striking disproportion in species richness in the Iberian Peninsula. While there are 17 Iberian endemic species in Arion, morphological criteria only recognize four species within Geomalacus. Sequence data were used to test whether these differences could result from: (1) cryptic diversity within Geomalacus; (2) an earlier origin for Arion (older clades are expected to accumulate more species); (3) distinct patterns of diversification rates (higher initial speciation rates in Arion), and (4) some combination of the above factors (e.g., an older clade with higher speciation rates). Species delimitation tests based on mitochondrial and nuclear data revealed eight cryptic lineages within Geomalacus that lessened the asymmetry; nevertheless, the disparity required further investigation. No meaningful differences in crown group ages of each recovered clade were found. Regardless the different premises of the two equally plausible diversification models (similar initial speciation rates vs. higher initial speciation rates in Geomalacus), both coincide on diversity-dependent diversification for the two groups but weaker rate declines in Arion best explains the observed asymmetry in species richness. Also, the broader environmental tolerance combined with a faster dispersal and wider distribution may have represented an evolutionary advantage for Arion.FCT (Fundacao para a Ciencia e Tecnologia, Portugal) [SFRH/BPD/109685/2015]; FSE (Fundo Social Europeu). [SFRH/BD/30024/2006]; FCT strategic plan [UID/Multi/04326/2013]info:eu-repo/semantics/publishedVersio

    Plant growth enhancement by elevated CO2 eliminated by joint water and nitrogen limitation

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    http://www.nature.com/ngeo/Rising atmospheric CO2 concentrations can fertilize plant growth. The resulting increased plant uptake of CO2 could, in turn, slow increases in atmospheric CO2 levels and associated climate warming. CO2 fertilization e ects may be enhanced when water availability is low, because elevated CO2 also leads to improved plant water-use e ciency. However, CO2 fertilization e ects may be weaker when plant growth is limited by nutrient availability. How variation in soil nutrients and water may act together to influence CO2 fertilization is unresolved. Here we report plant biomass levels from a five-year, open-air experiment in a perennial grassland under two contrasting levels of atmospheric CO2, soil nitrogen and summer rainfall, respectively. We find that the presence of a CO2 fertilization e ect depends on the amount of available nitrogen and water. Specifically, elevated CO2 levels led to an increase in plant biomass of more than 33% when summer rainfall, nitrogen supply, or both were at the higher levels (ambient for rainfall and elevated for soil nitrogen). But elevated CO2 concentrations did not increase plant biomass when both rainfall and nitrogen were at their lower level. We conclude that given widespread, simultaneous limitation by water and nutrients, large stimulation of biomass by rising atmospheric CO2 concentrations may not be ubiquitous
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