62 research outputs found

    The sustainability of beach nourishments: a review of nourishment and environmental monitoring practice

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    Beach nourishments are a widely used method to mitigate erosion along sandy shorelines. In contrast to hard coastal protection structures, nourishments are considered as soft engineering, although little is known about the cumulative, long-term environmental effects of both marine sediment extraction and nourishment activities. Recent endeavours to sustain the marine ecosystem and research results on the environmental impact of sediment extraction and nourishment activities are driving the need for a comprehensive up-to-date review of beach nourishment practice, and to evaluate the physical and ecological sustainability of these activities. While existing reviews of nourishment practice have focused on the general design (motivation, techniques and methods, international overview of sites and volumes) as well as legal and financial aspects, this study reviews and compares not only nourishment practice but also the accompanying assessment and monitoring of environmental impacts in a number of developed countries around the world. For the study, we reviewed 205 openly-accessible coastal management strategies, legal texts, guidelines, EIA documents, websites, project reports, press releases and research publications about beach nourishments in several developed countries around the world (Germany, Denmark, the Netherlands, Belgium, Spain, UK, USA and Australia). Where information was not openly available, the responsible authorities were contacted directly. The study elaborates on the differences in coastal management strategies and legislation as well as the large dissimilarities in the EIA procedure (where applicable) for both marine sediment extraction and nourishment activities. The spatial disturbance of the marine environment that is considered a significant impact, a factor which determines the need for an Environmental Impact Assessment, varies substantially between the countries covered in this study. Combined with the large uncertainties of the long-term ecological and geomorphological impacts, these results underline the need to reconsider the sustainability of nourishments as “soft” coastal protection measures

    Novel genetic loci associated with hippocampal volume

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    The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (rg =-0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness

    Novel genetic loci underlying human intracranial volume identified through genome-wide association

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    Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five novel loci for intracranial volume and confirmed two known signals. Four of the loci are also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (ρgenetic=0.748), which indicated a similar genetic background and allowed for the identification of four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, Parkinson’s disease, and enriched near genes involved in growth pathways including PI3K–AKT signaling. These findings identify biological underpinnings of intracranial volume and provide genetic support for theories on brain reserve and brain overgrowth

    New genetic loci link adipose and insulin biology to body fat distribution.

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    Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms

    Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

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    The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, common and rare variants from whole-exome sequencing data of about 4000 SARS-CoV-2-positive individuals were used to define an interpretable machine-learning model for predicting COVID-19 severity. First, variants were converted into separate sets of Boolean features, depending on the absence or the presence of variants in each gene. An ensemble of LASSO logistic regression models was used to identify the most informative Boolean features with respect to the genetic bases of severity. The Boolean features selected by these logistic models were combined into an Integrated PolyGenic Score that offers a synthetic and interpretable index for describing the contribution of host genetics in COVID-19 severity, as demonstrated through testing in several independent cohorts. Selected features belong to ultra-rare, rare, low-frequency, and common variants, including those in linkage disequilibrium with known GWAS loci. Noteworthily, around one quarter of the selected genes are sex-specific. Pathway analysis of the selected genes associated with COVID-19 severity reflected the multi-organ nature of the disease. The proposed model might provide useful information for developing diagnostics and therapeutics, while also being able to guide bedside disease management. © 2021, The Author(s)

    Exploration of Shared Genetic Architecture Between Subcortical Brain Volumes and Anorexia Nervosa

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    Influence of Age and Breed on Bovine Ovarian Capillary Blood Supply, Ovarian Mitochondria and Telomere Length

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    Worldwide, dairy cows of the type of high-producing cattle (HPC) suffer from health and fertility problems at a young age and therefore lose productivity after an average of only three lactations. It is still contentious whether these problems are primarily due to genetics, management, feeding or other factors. Vascularization plays a fundamental role in the cyclic processes of reproductive organs, as well as in the regeneration of tissues. In a previous study, HPC were shown to have a greater ovarian corpus luteum vascularization compared to dual-purpose breeds. We hypothesize that this activated angiogenesis could likely lead to an early exhaustion of HPCâ€Čs regenerative capacity and thus to premature reproductive senescence. The objective of this study was to investigate if a HPC breed (Holstein-Friesian, HF) exhibits higher ovarian angiogenesis than a dual-purpose breed (Polish Red cow, PR) and if this is related to early ovarian aging and finally reproductive failure. For this purpose, we assessed the degree of vascularization by means of ovarian blood vessel characterization using light microscopy. As indicators for aging, we measured ovarian mitochondrial size and telomere length in peripheral leukocytes. We report in this study that in both breeds the distance between capillaries became smaller with increasing age and that the mean telomere length decreased with increasing age. The only difference between the two breeds was that PR developed larger capillaries than HF. Neither a relationship between telomere length, nor the morphology of the mitochondrial apparatus and nor angiogenesis in HF was proven. Although the data trends indicated that the proportion of shortened telomeres in HF was higher than in the PR, no significant difference between the two breeds was detected

    The sustainability of beach nourishments: a review of nourishment and environmental monitoring practice

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    Beach nourishments are a widely used method to mitigate erosion along sandy shorelines. In contrast to hard coastal protection structures, nourishments are considered as soft engineering, although little is known about the cumulative, long-term environmental effects of both marine sediment extraction and nourishment activities. Recent endeavours to sustain the marine ecosystem and research results on the environmental impact of sediment extraction and nourishment activities are driving the need for a comprehensive up-to-date review of beach nourishment practice, and to evaluate the physical and ecological sustainability of these activities. While existing reviews of nourishment practice have focused on the general design (motivation, techniques and methods, international overview of sites and volumes) as well as legal and financial aspects, this study reviews and compares not only nourishment practice but also the accompanying assessment and monitoring of environmental impacts in a number of developed countries around the world. For the study, we reviewed 205 openly-accessible coastal management strategies, legal texts, guidelines, EIA documents, websites, project reports, press releases and research publications about beach nourishments in several developed countries around the world (Germany, Denmark, the Netherlands, Belgium, Spain, UK, USA and Australia). Where information was not openly available, the responsible authorities were contacted directly. The study elaborates on the differences in coastal management strategies and legislation as well as the large dissimilarities in the EIA procedure (where applicable) for both marine sediment extraction and nourishment activities. The spatial disturbance of the marine environment that is considered a significant impact, a factor which determines the need for an Environmental Impact Assessment, varies substantially between the countries covered in this study. Combined with the large uncertainties of the long-term ecological and geomorphological impacts, these results underline the need to reconsider the sustainability of nourishments as “soft” coastal protection measures.Bundesministerium fĂŒr Bildung und Forschung http://dx.doi.org/10.13039/50110000234
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