258 research outputs found

    Tożsamość cywilizacyjna Federacji Rosyjskiej – rozważania teoretyczne (The civilizational identity of Russian Federation – theoretical reflection)

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    Стаття підготовлена на основі дослідження, яке було проведене під час підготовки докторської дисертації «Стратегічне партнерство Європейського Союзу» і складає спробу теоретичного розгляду основ цивілізаційної та культурної ідентичності Російської Федерації як одного із чинників зовнішньої політики цієї держави. Цим пояснюється вибір трьох протилежних концепцій, які з’явилися уже в дев’яностих роках минулого століття. Метою автора було представлення опцій і напрямів здійснення зовнішньої політики бездетального аналізу практичних дій з боку Росії. (This article is based on research carried out in the preparation of the doctoral dissertation «Strategic partnership between European Union and Russian Federation» and is an attempt at the theoretical basis of civilization and cultural identity as one of the Russian Federation determinants of foreign policy. Thus, the choice three contrasting concepts. The aim to the author was to present options and directions of Russian foreign policy without a detailed analysis of the practical activities carried out by Russia.

    Land Policy for Flood Risk Management-Toward a New Working Paradigm

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    Flood risk management (FRM) aims to integrate necessary technical measures with environmental and societal approaches. Focusing on the process and governance of how to plan, implement, and maintain solutions therefore becomes essential. Among the different stakeholders, landowners are a key group to be considered. This contribution elaborates on the interconnections between land policy, FRM and private land ownership. It is based on the European COST Action network LAND4FLOOD, which brings together academics and stakeholders from various disciplines and more than 35 countries. We argue for a less project oriented and more process oriented approach, a focus on land management and more emphasis on small-scale measures. This represents a break with some of the recent working paradigms of FRM

    Adolescents’ Developing Sensitivity to Orthographic and Semantic Cues During Visual Search for Words

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    Two eye-tracking experiments were conducted to assess the influence of words either looking like the target word (orthographic distractors) or semantically related to the target word (semantic distractors) on visual search for words within lists by adolescents of 11, 13, and 15 years of age. In Experiment 1 (literal search task), participants saw the target word before the search (e.g., “raven”), whereas in Experiment 2 (categorical task) the target word was only defined by its semantic category (e.g., “bird”). In both experiments, participants’ search times decreased from fifth to ninth grade, both because older adolescents gazed less often at non-target words during the search and because they could reject non-target words more quickly once they were fixated. Progress in visual search efficiency was associated with a large increase in word identification skills, which were a strong determinant of average gaze durations and search times for the categorical task, but much less for the literal task. In the literal task, the presence of orthographic or semantic distractors in the list increased search times for all age groups. In the categorical task, the impact of semantic distractor words was stronger than in the literal task because participants needed to gaze at the semantic distractors longer than at the other words before rejecting them. Altogether, the data support the assumption that the progressive automation of word decoding up until the age of 12 and the better quality of older adolescents’ lexical representations facilitate a flexible use of both the perceptual and semantic features of words for top-down guidance within the displays. In particular, older adolescents were better prepared to aim at or reject words without gazing at them directly. Finally, the overall similar progression of the maturation of single word visual search processes and that of more real-life information search within complex verbal documents suggests that the young adolescents’ difficulties in searching the Web effectively could be due to their insufficiently developed lexical representations and word decoding abilities

    Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

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    Chromosomal imbalances are the major cause of mental retardation (MR). Many of these imbalances are caused by submicroscopic deletions or duplications not detected by conventional cytogenetic methods. Microarray-based comparative genomic hybridization (array-CGH) is considered to be superior for the investigation of chromosomal aberrations in children with MR, and has been demonstrated to improve the diagnostic detection rate of these small chromosomal abnormalities. In this study we used 1 Mb genome-wide array-CGH to screen 48 children with MR and congenital malformations for submicroscopic chromosomal imbalances, where the underlying cause was unknown. All children were clinically investigated and subtelomere FISH analysis had been performed in all cases. Suspected microdeletion syndromes such as deletion 22q11.2, Williams-Beuren and Angelman syndromes were excluded before array-CGH analysis was performed. We identified de novo interstitial chromosomal imbalances in two patients (4%), and an interstitial deletion inherited from an affected mother in one patient (2%). In another two of the children (4%), suspected imbalances were detected but were also found in one of the non-affected parents. The yield of identified de novo alterations detected in this study is somewhat less than previously described, and might reflect the importance of which selection criterion of patients to be used before array-CGH analysis is performed. However, array-CGH proved to be a high-quality and reliable tool for genome-wide screening of MR patients of unknown etiology

    Organic Compounds in a Sub-Antarctic Ice Core: A Potential Suite of Sea Ice Markers.

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    Investigation of organic compounds in ice cores can potentially unlock a wealth of new information in these climate archives. We present results from the first ever ice core drilled on sub-Antarctic island Bouvet, representing a climatologically important but understudied region. We analyze a suite of novel and more familiar organic compounds in the ice core, alongside commonly measured ions. Methanesulfonic acid shows a significant, positive correlation to winter sea ice concentration, as does a fatty acid compound, oleic acid. Both may be sourced from spring phytoplankton blooms, which are larger following greater sea ice extent in the preceding winter. Oxalate, formate, and acetate are positively correlated to sea ice concentration in summer, but sources of these require further investigation. This study demonstrates the potential application of organic compounds from the marine biosphere in generating multiproxy sea ice records, which is critical in improving our understanding of past sea ice changes

    A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men

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    The functional contribution of CNV to human biology and disease pathophysiology has undergone limited exploration. Recent observations in humans indicate a tentative link between CNV and weight regulation. Smith-Magenis syndrome (SMS), manifesting obesity and hypercholesterolemia, results from a deletion CNV at 17p11.2, but is sometimes due to haploinsufficiency of a single gene, RAI1. The reciprocal duplication in 17p11.2 causes Potocki-Lupski syndrome (PTLS). We previously constructed mouse strains with a deletion, Df(11)17, or duplication, Dp(11)17, of the mouse genomic interval syntenic to the SMS/PTLS region. We demonstrate that Dp(11)17 is obesity-opposing; it conveys a highly penetrant, strain-independent phenotype of reduced weight, leaner body composition, lower TC/LDL, and increased insulin sensitivity that is not due to alteration in food intake or activity level. When fed with a high-fat diet, Dp(11)17/+ mice display much less weight gain and metabolic change than WT mice, demonstrating that the Dp(11)17 CNV protects against metabolic syndrome. Reciprocally, Df(11)17/+ mice with the deletion CNV have increased weight, higher fat content, decreased HDL, and reduced insulin sensitivity, manifesting a bona fide metabolic syndrome. These observations in the deficiency animal model are supported by human data from 76 SMS subjects. Further, studies on knockout/transgenic mice showed that the metabolic consequences of Dp(11)17 and Df(11)17 CNVs are not only due to dosage alterations of Rai1, the predominant dosage-sensitive gene for SMS and likely also PTLS. Our experiments in chromosome-engineered mouse CNV models for human genomic disorders demonstrate that a CNV can be causative for weight/metabolic phenotypes. Furthermore, we explored the biology underlying the contribution of CNV to the physiology of weight control and energy metabolism. The high penetrance, strain independence, and resistance to dietary influences associated with the CNVs in this study are features distinct from most SNP–associated metabolic traits and further highlight the potential importance of CNV in the etiology of both obesity and MetS as well as in the protection from these traits

    Prefacing unexplored archives from Central Andean surface-to-bedrock ice cores through a multifaceted investigation of regional firn and ice core glaciochemistry.

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    Shallow firn cores, in addition to a near-basal ice core, were recovered in 2018 from the Quelccaya ice cap (5470 m a.s.l) in the Cordillera Vilcanota, Peru, and in 2017 from the Nevado Illimani glacier (6350 m a.s.l) in the Cordillera Real, Bolivia. The two sites are ~450 km apart. Despite meltwater percolation resulting from warming, particle-based trace element records (e.g. Fe, Mg, K) in the Quelccaya and Illimani shallow cores retain well-preserved signals. The firn core chronologies, established independently by annual layer counting, show a convincing overlap indicating the two records contain comparable signals and therefore capture similar regional scale climatology. Trace element records at a ~1?4 cm resolution provide past records of anthropogenic emissions, dust sources, volcanic emissions, evaporite salts and marine-sourced air masses. Using novel ultra-high-resolution (120 ?m) laser technology, we identify annual layer thicknesses ranging from 0.3 to 0.8 cm in a section of 2000-year-old radiocarbon-dated near-basal ice which compared to the previous annual layer estimates suggests that Quelccaya ice cores drilled to bedrock may be older than previously suggested by depth-age models. With the information collected from this study in combination with past studies, we emphasize the importance of collecting new surface-to-bedrock ice cores from at least the Quelccaya ice cap, in particular, due to its projected disappearance as soon as the 2050s

    Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

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    The characterization of mice with different number of copies of the same genomic segment shows that structural changes influence the phenotypic outcome independently of gene dosage

    Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation

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    Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by homozygous or compound heterozygous mutations in the gene encoding proopiomelanocortin (POMC). Loss of function mutations of POMC gene typically results in adrenal insufficiency, obesity and red hair. We describe an 18 month old Hispanic female with congenital adrenal insufficiency, a novel POMC mutation and atypical clinical features. The patient presented at the age of 9 months with hypoglycemia and the endocrine evaluation resulted in a diagnosis of ACTH deficiency. She developed extreme weight gain prompting sequence analysis of POMC, which revealed a homozygous c.231C > A change which is predicted to result in a premature termination codon. The case we report had obesity, hypocortisolism but lacked red hair which is typical for subjects with POMC mutations. Mutations of POMC should be considered in individuals with severe early onset obesity and adrenal insufficiency even when they lack the typical pigmentary phenotype
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