429 research outputs found

    Kommunales Grundwassermonitoring

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    KOMMUNALES GRUNDWASSERMONITORING Kommunales Grundwassermonitoring / Pelzer, Guido (Rights reserved) ( -

    Analysis of shared heritability in common disorders of the brain

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    ience, this issue p. eaap8757 Structured Abstract INTRODUCTION Brain disorders may exhibit shared symptoms and substantial epidemiological comorbidity, inciting debate about their etiologic overlap. However, detailed study of phenotypes with different ages of onset, severity, and presentation poses a considerable challenge. Recently developed heritability methods allow us to accurately measure correlation of genome-wide common variant risk between two phenotypes from pools of different individuals and assess how connected they, or at least their genetic risks, are on the genomic level. We used genome-wide association data for 265,218 patients and 784,643 control participants, as well as 17 phenotypes from a total of 1,191,588 individuals, to quantify the degree of overlap for genetic risk factors of 25 common brain disorders. RATIONALE Over the past century, the classification of brain disorders has evolved to reflect the medical and scientific communities' assessments of the presumed root causes of clinical phenomena such as behavioral change, loss of motor function, or alterations of consciousness. Directly observable phenomena (such as the presence of emboli, protein tangles, or unusual electrical activity patterns) generally define and separate neurological disorders from psychiatric disorders. Understanding the genetic underpinnings and categorical distinctions for brain disorders and related phenotypes may inform the search for their biological mechanisms. RESULTS Common variant risk for psychiatric disorders was shown to correlate significantly, especially among attention deficit hyperactivity disorder (ADHD), bipolar disorder, major depressive disorder (MDD), and schizophrenia. By contrast, neurological disorders appear more distinct from one another and from the psychiatric disorders, except for migraine, which was significantly correlated to ADHD, MDD, and Tourette syndrome. We demonstrate that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine. We also identify significant genetic sharing between disorders and early life cognitive measures (e.g., years of education and college attainment) in the general population, demonstrating positive correlation with several psychiatric disorders (e.g., anorexia nervosa and bipolar disorder) and negative correlation with several neurological phenotypes (e.g., Alzheimer's disease and ischemic stroke), even though the latter are considered to result from specific processes that occur later in life. Extensive simulations were also performed to inform how statistical power, diagnostic misclassification, and phenotypic heterogeneity influence genetic correlations. CONCLUSION The high degree of genetic correlation among many of the psychiatric disorders adds further evidence that their current clinical boundaries do not reflect distinct underlying pathogenic processes, at least on the genetic level. This suggests a deeply interconnected nature for psychiatric disorders, in contrast to neurological disorders, and underscores the need to refine psychiatric diagnostics. Genetically informed analyses may provide important "scaffolding" to support such restructuring of psychiatric nosology, which likely requires incorporating many levels of information. By contrast, we find limited evidence for widespread common genetic risk sharing among neurological disorders or across neurological and psychiatric disorders. We show that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures. Further study is needed to evaluate whether overlapping genetic contributions to psychiatric pathology may influence treatment choices. Ultimately, such developments may pave the way toward reduced heterogeneity and improved diagnosis and treatment of psychiatric disorders

    The genetic architecture of the human cerebral cortex

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    The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder

    Author Correction:Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function

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    Christina M. Lill, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this article. This has now been corrected in both the PDF and HTML versions of the article

    Genomic investigations of unexplained acute hepatitis in children

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    Since its first identification in Scotland, over 1,000 cases of unexplained paediatric hepatitis in children have been reported worldwide, including 278 cases in the UK1. Here we report an investigation of 38 cases, 66 age-matched immunocompetent controls and 21 immunocompromised comparator participants, using a combination of genomic, transcriptomic, proteomic and immunohistochemical methods. We detected high levels of adeno-associated virus 2 (AAV2) DNA in the liver, blood, plasma or stool from 27 of 28 cases. We found low levels of adenovirus (HAdV) and human herpesvirus 6B (HHV-6B) in 23 of 31 and 16 of 23, respectively, of the cases tested. By contrast, AAV2 was infrequently detected and at low titre in the blood or the liver from control children with HAdV, even when profoundly immunosuppressed. AAV2, HAdV and HHV-6 phylogeny excluded the emergence of novel strains in cases. Histological analyses of explanted livers showed enrichment for T cells and B lineage cells. Proteomic comparison of liver tissue from cases and healthy controls identified increased expression of HLA class 2, immunoglobulin variable regions and complement proteins. HAdV and AAV2 proteins were not detected in the livers. Instead, we identified AAV2 DNA complexes reflecting both HAdV-mediated and HHV-6B-mediated replication. We hypothesize that high levels of abnormal AAV2 replication products aided by HAdV and, in severe cases, HHV-6B may have triggered immune-mediated hepatic disease in genetically and immunologically predisposed children

    Der Archetyp des Alten Weisen - Symposium „Echo der Generationen“

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    Der Vortrag von Prof. Dr. Ingrid Riedel, Konstanz, beschreibt die archetypische Symbolik, die von alten Menschen ausgeht und bezieht sich auf das Werk von C.G.Jung. Er enthält viele Anregungen für die Arbeit mit Generationen

    Le sens de la vie, la créativité et la spiritualité au 3e âge : Expériences faites avec la thérapie par l’art

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    An Bildern, die von hochbetagten Menschen zwischen 80 und 95 gemalt wurden, lassen sich Kreativität und Spiritualität alter Menschen aufzeigen, dazu auch die Werte, die für die Alten mit Sinnerfahrung verbunden sind. Vor allem sind dies die Erfahrung der Natur und des Hauses als Orte der Geborgenheit und der Beziehung. Hinzu kommt die Erinnerung an sinngebende Arbeit, an Freundschaft, Partnerschaft und Familie. Versöhnende und sinnstiftende Symbole wie Regenbogen oder Mandala, dazu spirituelle Räume wie Kapellen tauchen nicht selten auf. Intensive Farbigkeit als Ausdruck der Sehnsucht nach der Farbigkeit des Lebens charakterisiert viele der Bilder.Schlüsselwörter Bilder malen; Hochbetagte Menschen; Kreativität; Spiritualität; Sinnerfahrung; SehnsüchtePainted pictures of very old people (80-95 years) show the creativity and spirituality and the values providing experiences of deep meaning in life such as the experience of nature, of the house as a place to feel safe and contained and being in relationships. Memories of fulfilling work, friendship, partnership and family are also shown in the painted pictures. Reconciliating symbols such as rainbows or mandalas, spiritual places such as chapels are also depicted. Intense colours as an expression for the longing for a colourful life are the central characteristics of most pictures.Keywords Painted pictures; Very old people; Creativity; Spirituality; Experiences of meaning; LongingsLes images peintes par des personnes ayant atteint un âge avancé (80 à 95 ans), comme celles qui sont issues de l' «atelier mobile pour les aînés» organisé par Claudia Hund à Fribourg i.B., permettent de mettre en évidence la créativité et la spiritualité des personnes âgées, ainsi que les valeurs qui, pour elles, donnent un sens à la vie. Il s'agit avant tout de vécus associés à la nature, d'une part, et aux maisons, d'autre part, toutes deux représentants des endroits protégés, des lieux de rencontre et d'interaction. A ceci s'ajoutent des souvenirs associés à la vie professionnelle, à l'amitié, à des relations avec des partenaires et la famille - tous sont source de sens. On trouve aussi assez fréquemment des symboles exprimant le sens de la vie, comme l'arc-en-ciel ou le mandala, ainsi que des images d'espaces spirituels, chapelles et autres églises. De nombreux tableaux sont caractérisés par leurs couleurs intenses, considérées comme exprimant une nostalgie pour la vitalité existentielle.D'autre part, la ligne de base des bâtiments, des routes et des montagnes est souvent comme flottante, dans le sens où elle est située assez haut sur la feuille - c'est comme si les objets représentés s'élevaient au-dessus du sol et, ce faisant, s'en échappent.S'il est vrai que parfois des handicaps physiques ou psychiques sont visibles au niveau du contenu des images - voir par exemple l'alignement stéréotypé de certains éléments -, la plupart des peintures sont extrêmement expressives. Ceci confirme la thèse formulée par C. G. Jung, selon laquelle la créativité a un effet curatif dans la mesure où elle permet à la personne de se centrer et où elle libère des énergies qui lui permettent de devenir entièrement elle-même.Même lorsque des personnes âgées ont beaucoup de peine à parler ou à bouger elles peignent des images extrêmement harmonieuses ; à lui seul, ce processus de création est source de joie, de satisfaction et donc de sens

    Spirituality and searching for meaning in elder people

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    Monoclinic Zirconia Bodies by Thermoplastic Ceramic Extrusion

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    wo ultrafine, undoped ZrO2 powders with median primary particle sizes of 9 and 25 nm were used to prepare ceramic suspensions for thermoplastic extrusion. The organic vehicle consisted of an industrial-grade poly(ethylene-co-vinyl acetate) (EVA) or polyethylene (PE-HD) and decanoic acid as a dispersing agent. The powder volume loadings achieved were 44% and 52% by volume for the two powders, respectively. The amount of dispersant needed was calculated from a new model based on available chemisorption sites on the powder surface. Mixing and extrusion were conducted using a conventional modular plastic processing unit. Green bodies were dewaxed up to 450°C in an inert atmosphere and sintered to full density in air at 1060° and 1100°C, respectively. Analysis of the ceramic phase content and the microstructure of the bodies is presented
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