4,693 research outputs found

    Exploring missing heritability in neurodevelopmental disorders:Learning from regulatory elements

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    In this thesis, I aimed to solve part of the missing heritability in neurodevelopmental disorders, using computational approaches. Next to the investigations of a novel epilepsy syndrome and investigations aiming to elucidate the regulation of the gene involved, I investigated and prioritized genomic sequences that have implications in gene regulation during the developmental stages of human brain, with the goal to create an atlas of high confidence non-coding regulatory elements that future studies can assess for genetic variants in genetically unexplained individuals suffering from neurodevelopmental disorders that are of suspected genetic origin

    EEG-based neurophysiological indices for expert psychomotor performance – a review

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    A primary objective of current human neuropsychological performance research is to define the physiological correlates of adaptive knowledge utilization, in order to support the enhanced execution of both simple and complex tasks. Within the present article, electroencephalography-based neurophysiological indices characterizing expert psychomotor performance, will be explored. As a means of characterizing fundamental processes underlying efficient psychometric performance, the neural efficiency model will be evaluated in terms of alpha-wave-based selective cortical processes. Cognitive and motor domains will initially be explored independently, which will act to encapsulate the task-related neuronal adaptive requirements for enhanced psychomotor performance associating with the neural efficiency model. Moderating variables impacting the practical application of such neuropsychological model, will also be investigated. As a result, the aim of this review is to provide insight into detectable task-related modulation involved in developed neurocognitive strategies which support heightened psychomotor performance, for the implementation within practical settings requiring a high degree of expert performance (such as sports or military operational settings)

    The medical applications of hyperpolarized Xe and nonproton magnetic resonance imaging

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    Hyperpolarized 129Xe (HP 129Xe) magnetic resonance imaging (MRI) is a relatively young field which is experiencing significant advancements each year. Conventional proton MRI is widely used in clinical practice as an anatomical medical imaging due to its superb soft tissue contrast. HP 129Xe MRI, on the other hand, may provide valuable information about internal organs functions and structure. HP 129Xe MRI has been recently clinically approved for lung imaging in the United Kingdom and the United States. It allows quantitative assessment of the lung function in addition to structural imaging. HP 129Xe has unique properties of anaesthetic, and may transfer to the blood stream and be further carried to the highly perfused organs. This gives the opportunity to assess brain perfusion with HP 129Xe and perform molecular imaging. However, the further progression of the HP 129Xe utilization for brain perfusion quantification and molecular imaging implementation is limited by the absence of certain crucial milestones. This thesis focused on providing important stepping stones for the further development of HP 129Xe molecular imaging and brain imaging. The effect of glycation on the spectroscopic characteristics of HP 129Xe was studied in whole sheep blood with magnetic resonance spectroscopy. An additional peak of HP 129Xe bound to glycated hemoglobin was observed. This finding should be implemented in the spectroscopic HP 129Xe studies in patients with diabetes. [...

    An embodied approach to informational interventions: using conceptual metaphors to promote sustainable healthy diets

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    Poor diet quality and environmental degradation are two major challenges of our times. Unhealthy and unsustainable dietary practices, such as the overconsumption of meat and consumer food waste behaviour, contribute greatly to both issues. Across seventeen online and field experiments, in two different cultures (US and China), this thesis investigates if the embodied cognition approach, and more specifically, research on conceptual metaphors, can be used to develop interventions to promote sustainable healthy diets. Interventions relying on conceptual metaphors have been shown to stimulate attitudinal and behavioural changes in other fields (e.g., marketing and political communications), but are rarely adopted to encourage sustainable healthy diets. To fill in this gap in the literature, I conducted five sets of experimental studies examining the effects of different metaphors on specific sustainable healthy dietary practices, each of which forms an independent empirical paper (Chapters 2-6 of the thesis). After introducing the current perspectives on embodied cognition and conceptual metaphors in the context of this research (Chapter 1), Chapter 2 looks into the conceptual metaphor “Healthy is Up”, demonstrating that US people implicitly associate healthiness with verticality, and offering recommendations for healthy eating guidelines. Chapter 3 extends this research to Chinese samples and partially replicates the results. Chapter 4 shows that the anthropomorphic metaphor “Animals are Friends” discourages meat consumption by inducing anticipatory guilt among US omnivores, whereas Chapter 5 reveals that Chinese omnivores are more responsive to another anthropomorphic metaphor, namely, “Animals are Family”. Bringing lab insights 6 to the real world, Chapter 6 demonstrates with a longitudinal field experiment that anthropomorphic metaphors together with environmental feedback result in a higher reduction in food waste as compared to other feedback interventions. The strengths, limitations and implications of those empirical papers are discussed in the conclusive part of the thesis

    Enhancing EEG-based attachment style prediction: unveiling the impact of feature domains

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    IntroductionAttachment styles are crucial in human relationships and have been explored through neurophysiological responses and EEG data analysis. This study investigates the potential of EEG data in predicting and differentiating secure and insecure attachment styles, contributing to the understanding of the neural basis of interpersonal dynamics.MethodsWe engaged 27 participants in our study, employing an XGBoost classifier to analyze EEG data across various feature domains, including time-domain, complexity-based, and frequency-based attributes.ResultsThe study found significant differences in the precision of attachment style prediction: a high precision rate of 96.18% for predicting insecure attachment, and a lower precision of 55.34% for secure attachment. Balanced accuracy metrics indicated an overall model accuracy of approximately 84.14%, taking into account dataset imbalances.DiscussionThese results highlight the challenges in using EEG patterns for attachment style prediction due to the complex nature of attachment insecurities. Individuals with heightened perceived insecurity predominantly aligned with the insecure attachment category, suggesting a link to their increased emotional reactivity and sensitivity to social cues. The study underscores the importance of time-domain features in prediction accuracy, followed by complexity-based features, while noting the lesser impact of frequency-based features. Our findings advance the understanding of the neural correlates of attachment and pave the way for future research, including expanding demographic diversity and integrating multimodal data to refine predictive models

    Exploring missing heritability in neurodevelopmental disorders:Learning from regulatory elements

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    Parámetros genéticos de los caracteres morfológicos lineales de la raza caprina murciano-granadina y sus relaciones con otros caracteres funcionales

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    Linear appraisal systems (LAS) are effective strategies for systematically collecting zoometric information from animal populations. Traditionally applied LAS in goats was developed considering the variability and scales found in highly selected breeds. Implementing LAS may reduce time, personnel, and resource needs when performing zoometric large-scale collection. Moreover, selection for zoometrics defines individuals’ productive longevity, endurance, enhanced productive abilities, and consequently, long-term profitability. As a result, traditional LAS may no longer cover the different contexts of goat breeds widespread throughout the world, and departures from normality may be indicative of the different stages of selection at which a certain population can be found. In the first study, an evaluation of the distribution and symmetry properties of twenty-eight zoometric traits was developed. After symmetry analysis was performed, the scale readjustment proposal suggested specific strategies should be implemented such as scale reduction of lower or upper levels, determination of a setup moment to evaluate and collect information from young (up to 2 years) and adult bucks (over 2 years), the addition of upper categories in males due to upper values in the scale being incorrectly clustered together. Thus, the particular analysis of each variable permits determining specific strategies for each trait and serve as a model for other breeds, either selected or in terms of selection. The aim of the second study was to propose a method to optimize and validate LAS in opposition to traditional measuring protocols routinely implemented in Murciano-Granadina goats. The data sample consisted of 41323 LAS and traditional measuring records, belonging to 22727 herdbook registered primipara does, 17111 multipara does, and 1485 bucks. Each record comprised information on 17 linear traits for primipara and multipara does, and 10 traits for bucks. All zoometric parameters were scored on a 9-points scale. Cronbach’s alpha values suggested a high internal consistency of the optimized variable panel. Model fit, variability explanation power, and predictive power (MSE, AIC/AICc, and BIC, respectively) suggested a model comprising zoometric LAS scores performed better than traditional zoometry. Optimization procedures result in reduced models able to capture variability for dairy-related zoometric traits without noticeable detrimental effects on model validity properties. The third study aimed to perform a particular analysis of each variable that permits determining specific strategies for each trait and serves as a model for other breeds. Among the strategies proposed are the reduction/readjustment of the levels in the scale as it happens for limb-related traits, the extension of the scale as it occurs in the stature of males, or the subdivision of the scale used in males into two categories, bucks younger than two years and bucks of two years old and older. Murciano- Granadina goat breed has drifted towards better dairy-linked conformation traits but without losing the grounds of the zoometric basis which confers it with enhanced adaptability to the environment. Hence, such strategies can help to achieve a better understanding of the momentum of selection for dairy-linked zoometric traits in Murciano-Granadina population and their future evolution to enhance the profitability and efficiency of breeding plans. The objective of the fourth study was to evaluate the progress of heritabilities of the traits comprising the linear appraisal system in the Murciano-Granadina breed during the complete decade from December 2011 to December 2021. The estimated values for heritability were obtained from multivariate analyzes using the BLUP methodology and MTDFREML software. For 2021 heritabilities, a simple animal model was applied to records collected from 22727 primiparous goats and 17111 multiparous goats belonging to 85 herds. The model included the linear and quadratic and linear components of the covariates age and days in milk, respectively. The fixed effects considered in the model were herd, reproductive status, calving month, and herd/year interaction. The animal was considered as a random effect. The variables studied included five characteristics related to structure and capacity, two traits related to dairy structure, six related to the mammary system, and three related to legs and feet. The heritabilities for structure and capacity characters progressed from 0.22 to 0.28 including non-convergent variables in June 2012 to values between 0.10 and 0.41 with all variables converging in June 2021. Heritabilities for dairy structure progressed from 0.18 with nonconvergent variables in 2011 to 0.17 to 0.25 in 2021. Heritabilities for mammary system traits progressed from 0.12 to 0, 27 with non-convergent variables in 2012 to between 0.10 and 0.41 in 2021. For legs and feet, heritabilities progressed from 0.16 to 0.17 with non-convergent variables to 0.09 a 0.22. Genetic progress is not only evident in heritability values, but there has been a notable reduction in the standard error of heritabilities from 0.1000 (0.080-0.120) to 0.000 (0.000-0.001) from 2011 to 2021. These results provide evidence of the enhancement in the effectiveness and precision of the linear qualification system applied during the past decade and its successful integration into the breeding program of the Murciano- Granadina breed. The fifth study estimates genetic and phenotypic parameters for zoometric/LAS traits in Murciano-Granadina goats, estimate genetic and phenotypic correlations among all traits, and to determine whether major area selection would be appropriate or if adaptability strategies may need to be followed. Heritability estimates for the zoometric/LAS traits were low to high, ranging from 0.09 to 0.43 and the accuracy of estimation has improved after decades rendering standard errors negligible. Scale inversion of specific traits may need to be performed before major areas selection strategies are implemented. Genetic and phenotypic correlations suggest that negative selection against thicker bones and higher rear insertion heights, indirectly results in the optimization of selection practices in the rest of the traits, especially of those in the structure and capacity and mammary system major areas. The integration and implementation of the strategies proposed within Murciano-Granadina breeding program maximize selection opportunities and the sustainable international competitiveness of the Murciano- Granadina goat in the dairy goat breed panorama. The objective of the sixth study was to develop a discriminant canonical analysis (DCA) tool that permits outlining the role of the individual haplotypes of each component of the casein complex (αS1, β, αS2, and κ-casein) on zoometrics/linear appraisal breeding values. The relationship of the predicted breeding value for 17 zoometric/Linear appraisal traits and αS1, β, αS2, and κ-casein genes haplotypic sequences was assessed. Results suggest that, although a lack of significant differences (P>0.05) was reported across the predictive breeding values of zoometric/linear appraisal traits for αS1, αS2 and κ casein, significant differences were found for β Casein (P0,05) en los valores de cría predichos de los rasgos de zoometría/calificación lineal para la αS1, αS2 y κ-caseína, se encontraron diferencias significativas para la β-caseína (P<0,05), respectivamente. La presencia de secuencias haplotípicas de β-caseína GAGACCCC, GGAACCCC, GGAACCTC, GGAATCTC, GGGACCCC, GGGATCTC y GGGGCCCC, vinculadas a combinaciones diferenciales de mayores cantidades de leche de mayor calidad en términos de su composición, también puede estar relacionada con una mayor valoración zoométrica/lineal de la predicción de los valores de cría. La selección debe realizarse con cuidado, dado que la consideración de animales aparentemente deseables que presentan la secuencia haplotípica GGGATCCC en el gen de la β- caseína, debido a sus valores genéticos predichos positivos para ciertos rasgos de zoometría/calificación lineal, como la altura de la inserción trasera, la calidad ósea , la inserción anterior, la profundidad de ubre, la vista lateral de patas traseras y la vista trasera de patas traseras pueden conducir a una selección indirecta frente al resto de rasgos de zoometría/calificación lineal y a su vez conducir a una selección ineficiente hacia un tipo morfotipo lechero óptimo en cabras Murciano-Granadina. Por el contrario, la consideración de animales que presentan la secuencia haplotípica GGAACCCC implica también considerar animales que aumentan el potencial genético para todos los rasgos de zoometría/calificación lineal, haciéndolos así recomendables como reproductores. La información derivada de los presentes análisis mejorará la selección de individuos reproductores que busquen un tipo lechero bastante deseable, a través de la determinación de las secuencias haplotípicas que presentan en el locus β-caseína. Todos estos estudios persiguen la obtención de un conocimiento más profundo de los caracteres morfológicos lineales de la raza caprina Murciano-Granadina y sus relaciones con otras características funcionales. Esto sienta las bases para estrategias de normalización y mejora de la capacidad productiva y el morfotipo lechero de la cabra Murciano-Granadina y ayudará a alcanzar su consolidación competitiva en el panorama caprino lechero internacional

    Effects of municipal smoke-free ordinances on secondhand smoke exposure in the Republic of Korea

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    ObjectiveTo reduce premature deaths due to secondhand smoke (SHS) exposure among non-smokers, the Republic of Korea (ROK) adopted changes to the National Health Promotion Act, which allowed local governments to enact municipal ordinances to strengthen their authority to designate smoke-free areas and levy penalty fines. In this study, we examined national trends in SHS exposure after the introduction of these municipal ordinances at the city level in 2010.MethodsWe used interrupted time series analysis to assess whether the trends of SHS exposure in the workplace and at home, and the primary cigarette smoking rate changed following the policy adjustment in the national legislation in ROK. Population-standardized data for selected variables were retrieved from a nationally representative survey dataset and used to study the policy action’s effectiveness.ResultsFollowing the change in the legislation, SHS exposure in the workplace reversed course from an increasing (18% per year) trend prior to the introduction of these smoke-free ordinances to a decreasing (−10% per year) trend after adoption and enforcement of these laws (β2 = 0.18, p-value = 0.07; β3 = −0.10, p-value = 0.02). SHS exposure at home (β2 = 0.10, p-value = 0.09; β3 = −0.03, p-value = 0.14) and the primary cigarette smoking rate (β2 = 0.03, p-value = 0.10; β3 = 0.008, p-value = 0.15) showed no significant changes in the sampled period. Although analyses stratified by sex showed that the allowance of municipal ordinances resulted in reduced SHS exposure in the workplace for both males and females, they did not affect the primary cigarette smoking rate as much, especially among females.ConclusionStrengthening the role of local governments by giving them the authority to enact and enforce penalties on SHS exposure violation helped ROK to reduce SHS exposure in the workplace. However, smoking behaviors and related activities seemed to shift to less restrictive areas such as on the streets and in apartment hallways, negating some of the effects due to these ordinances. Future studies should investigate how smoke-free policies beyond public places can further reduce the SHS exposure in ROK

    Differences in well-being:the biological and environmental causes, related phenotypes, and real-time assessment

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    Well-being is a complex, and multifaceted construct that includes feeling good and functioning well. There is a growing global recognition of well-being as an important research topic and public policy goal. Well-being is related to less behavioral and emotional problems, and is associated with many positive aspects of daily life, including longevity, higher educational achievement, happier marriage, and more productivity at work. People differ in their levels of well-being, i.e., some people are in general happier or more satisfied with their lives than others. These individual differences in well-being can arise from many different factors, including biological (genetic) influences and environmental influences. To enhance the development of future mental health prevention and intervention strategies to increase well-being, more knowledge about these determinants and factors underlying well-being is needed. In this dissertation, I aimed to increase the understanding of the etiology in a series of studies using different methods, including systematic reviews, meta-analyses, twin designs, and molecular genetic designs. In part I, we brought together all published studies on the neural and physiological factors underlying well-being. This overview allowed us to critically investigate the claims made about the biology involved in well-being. The number of studies on the neural and physiological factors underlying well-being is increasing and the results point towards potential correlates of well-being. However, samples are often still small, and studies focus mostly on a single biomarker. Therefore, more well-powered, data-driven, and integrative studies across biological categories are needed to better understand the neural and physiological pathways that play a role in well-being. In part II, we investigated the overlap between well-being and a range of other phenotypes to learn more about the etiology of well-being. We report a large overlap with phenotypes including optimism, resilience, and depressive symptoms. Furthermore, when removing the genetic overlap between well-being and depressive symptoms, we showed that well-being has unique genetic associations with a range of phenotypes, independently from depressive symptoms. These results can be helpful in designing more effective interventions to increase well-being, taking into account the overlap and possible causality with other phenotypes. In part III, we used the extreme environmental change during the COVID-19 pandemic to investigate individual differences in the effects of such environmental changes on well-being. On average, we found a negative effect of the pandemic on different aspects of well-being, especially further into the pandemic. Whereas most previous studies only looked at this average negative effect of the pandemic on well-being, we focused on the individual differences as well. We reported large individual differences in the effects of the pandemic on well-being in both chapters. This indicates that one-size-fits-all preventions or interventions to maintain or increase well-being during the pandemic or lockdowns will not be successful for the whole population. Further research is needed for the identification of protective factors and resilience mechanisms to prevent further inequality during extreme environmental situations. In part IV, we looked at the real-time assessment of well-being, investigating the feasibility and results of previous studies. The real-time assessment of well-being, related variables, and the environment can lead to new insights about well-being, i.e., results that we cannot capture with traditional survey research. The real-time assessment of well-being is therefore a promising area for future research to unravel the dynamic nature of well-being fluctuations and the interaction with the environment in daily life. Integrating all results in this dissertation confirmed that well-being is a complex human trait that is influenced by many interrelated and interacting factors. Future directions to understand individual differences in well-being will be a data-driven approach to investigate the complex interplay of neural, physiological, genetic, and environmental factors in well-being
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