111 research outputs found

    Eine Zwillingsstudie zum inneren Sprechen

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    Der Ursprung des inneren Sprechens liegt im kulturhistorischen Ansatz und wurde vor allem von dem Forscher Lev Vygotskij (2002) geprĂ€gt. Es stellt das Sprechen fĂŒr den Sprechenden selbst dar und ist in unserem Alltag allgegenwĂ€rtig (vgl. Morin & Uttl, 2013). Durch seine KomplexitĂ€t und Verflechtung mit dem menschlichen Denken lĂ€sst sich das innere Sprechen nur schwer untersuchen. Eine der vielversprechendsten Methoden stellt die Thought Sampling Method von Morin und Uttl (2013) dar. FĂŒr das Forschungsvorhaben dieser Arbeit wurde diese Methode modifiziert und angepasst. In der vorliegenden Masterarbeit steht das innere Sprechen von eineiigen und zweieiigen Zwillingen im Vordergrund. Hierbei wird der Frage nachgegangen, ob sich eineiige Zwillinge in ihrem inneren Sprechen signifikant Ă€hnlicher sind als zweieiige. Mithilfe einer App namens iPromptU konnte die Thought Sampling Method erfolgreich umgesetzt und das innere Sprechen von acht Zwillingspaaren im Alter von 17 bis 26 untersucht werden. Eine Analyse mit der Software „Linguistic Inquiry and Word Count“ zeigte eine signifikante BestĂ€tigung der Forschungsfrage auf dem Gebiet der sozialen Prozesse und mehrere Tendenzen in anderen Bereichen. Diese Tendenzen konnten vor allem fĂŒr die psychologi-schen Prozesse des inneren Sprechens und im Rahmen der Themengebiete der qualitati-ven Analyse ausgemacht werden. Um weitere RĂŒckschlĂŒsse zu ziehen, sollte in zukĂŒnftigen Untersuchungen die Anzahl der Versuchspersonen erhöht werden, sodass aussagekrĂ€ftige Ergebnisse erzielt werden können.The origin of inner speech lies in the cultural-historical activity theory and was mainly influenced by the researcher Lev Vygotskij (2002). It is defined as the silent speaking for the speaker himself and is omnipresent in our everyday life (see Morin & Uttl, 2013). Due to its complexity and interweaving with human thinking, inner speech is difficult to study. One of the most promising methods is the Thought Sampling Method designed by Morin and Uttl (2013). For the research project of this work, this method has been modified and adapted. This master thesis focuses on the inner speaking of identical and non-identical twins. The idea is to investigate whether monozygotic twins are significantly more similar in their inner speech than dizygotic twins. With the help of an app called iPromptU, the Thought Sampling Method was successfully implemented and the inner speech of eight pairs of twins aged 17 to 26 were examined. The analysis with the software ‘Linguistic Inquiry and Word Count’ shows a significant confirmation of the research question in the field of social processes and several tendencies in other fields. These tendencies could be identified mainly for the psychological processes of inner speech and as part of the topics of qualitative analysis. In order to draw further conclusions, the number of test subjects should be increased in future studies so that meaningful results can be achieved

    Keratinocytes regulate the threshold of inflammation by inhibiting T cell effector functions

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    Whilst the importance of keratinocytes as a first-line defense has been widely investigated, little is known about their interactions with non-resident immune cells. In this study, the impact of human keratinocytes on T cell effector functions was analyzed in an antigen-specific in vitro model of allergic contact dermatitis (ACD) to nickel sulfate. Keratinocytes partially inhibited T cell proliferation and cytokine production. This effect was dependent on the keratinocyte/T cell ratio and was partially reversible by increasing the number of autologous dendritic cells. The inhibition of T cell proliferation by keratinocytes was independent of the T cell subtype and antigen presentation by different professional antigen-presenting cells. Autologous and heterologous keratinocytes showed comparable effects, while the fixation of keratinocytes with paraformaldehyde abrogated the immunosuppressive effect. The separation of keratinocytes and T cells by a transwell chamber, as well as a cell-free keratinocyte supernatant, inhibited T cell effector functions to the same amount as directly co-cultured keratinocytes, thus proving that soluble factor/s account for the observed suppressive effects. In conclusion, keratinocytes critically control the threshold of inflammatory processes in the skin by inhibiting T cell proliferation and cytokine production

    Dysmorphology and the spectacle of the clinic

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    Dysmorphology is the medical study of abnormal forms in the human and is concerned with the identification and classification of a variety of congenital malformations. Such diagnostic work rests on the inspection of images of affected individuals. Based on physical appearance individuals are classified in terms of a wide range of conditions, often with 'exotic' nomenclatures. This paper will describe the features of clinical dysmorphology and the process of classification. It derives from an ethnographic study of clinical consultations and meetings among medical geneticists in UK hospitals. We suggest that contemporary dysmorphology can be understood in terms of long-standing forms of medical knowledge, medical representations and medical discourse. Notwithstanding the new forms of technology provided by genetic science, 'the clinic' still asserts its symbolic and functional power: the 'gaze' of the clinician and the clinician's warrant of personal knowledge exert their influence. The adjudication of dysmorphology is a contemporary exemplar of the spectacular

    Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

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    We report an allelic series of eight mutations in GATA2 underlying Emberger syndrome, an autosomal dominant primary lymphedema associated with a predisposition to acute myeloid leukemia. GATA2 is a transcription factor that plays an essential role in gene regulation during vascular development and hematopoietic differentiation. Our findings indicate that haploinsufficiency of GATA2 underlies primary lymphedema and predisposes to acute myeloid leukemia in this syndrome

    Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

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    Deletions of 17p13.3, including the LIS1 gene, result in the brain malformation lissencephaly, which is characterized by reduced gyration and cortical thickening; however, the phenotype can vary from isolated lissencephaly sequence (ILS) to Miller-Dieker syndrome (MDS). At the clinical level, these two phenotypes can be differentiated by the presence of significant dysmorphic facial features and a more severe grade of lissencephaly in MDS. Previous work has suggested that children with MDS have a larger deletion than those with ILS, but the precise boundaries of the MDS critical region and causative genes other than LIS1 have never been fully determined. We have completed a physical and transcriptional map of the 17p13.3 region from LIS1 to the telomere. Using fluorescence in situ hybridization, we have mapped the deletion size in 19 children with ILS, 11 children with MDS, and 4 children with 17p13.3 deletions not involving LIS1. We show that the critical region that differentiates ILS from MDS at the molecular level can be reduced to 400 kb. Using somatic cell hybrids from selected patients, we have identified eight genes that are consistently deleted in patients classified as having MDS. In addition, deletion of the genes CRK and 14-3-3ɛ delineates patients with the most severe lissencephaly grade. On the basis of recent functional data and the creation of a mouse model suggesting a role for 14-3-3ɛ in cortical development, we suggest that deletion of one or both of these genes in combination with deletion of LIS1 may contribute to the more severe form of lissencephaly seen only in patients with MDS

    NERA project - Deliverable D11.4: Array measurements

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    The aim of this Task is to present the seismological data and some preliminary empirical results related to two deployed specific arrays; (a) the Argostoli seismological array and (b) the Fucino seismological array. Both experiment arrays provided high quality data that along with corresponding geological and geophysical measurements may serve to critical evaluation of site effects and basin effects. In addition, work on modelling of basin effects may be significantly benefited by the observed acquired in both sites. Given that the analyses of the data obtained during the aforementioned experimental arrays will be performed in close link with activity of NERA-JRA3, the following goals are set: To investigate the link between ground motion spatial variability, strains, seismic wavefield and subsurface properties To compare numerical estimates of ground strain with actual measurements To investigate the capability of estimating ground strains from noise correlation studies. In order to organize and accomplish the work according to the initial schedule, several meetings (actual or/and Skype) among the participants took place during the 2nd year of the NERA-JRA1 project. Minutes of these meetings are given in Appendices 1, 2, 3 and 4.Network of European Research Infrastructures for Earthquake Risk Assessment and Mitigation Project, Seventh Framework Programme EC project number: 262330Published4T. Sismologia, geofisica e geologia per l'ingegneria sismic

    Chromosome 17q12 duplications: Further delineation of the range of psychiatric and clinical phenotypes

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    Copy number variants at chromosome 17q12 have been associated with a spectrum of phenotypes. Deletions of 17q12 are well described and associated with maturity onset diabetes of the young type 5 (MODY5) and cystic renal disease (HNF1ÎČ) as well as cognitive impairment and seizures. Duplication of 17q12 is emerging as a new genetic syndrome, associated with learning disability, seizures, and behavioral problems. The duplication is often inherited from an apparently unaffected parent. Here, we describe a three‐generation family with multiple individuals carrying a17q12 microduplication with varying clinical features, consistent with variable penetrance. The proband who inherited a 1.8 Mb interstitial 17q12 duplication from his mother presented with developmental delay, behavioral problems, and mild dysmorphism. One of his sisters, his maternal uncle, and his maternal grandmother also carry the 17q12 microduplication. Clinical features of the carriers include renal problems, diabetes mellitus, learning difficulties, epilepsy and mental illness. Cognitive abilities range from normal function to moderate impairment (full‐scale IQ range: 52‐99). In light of recent reports of association of this locus with schizophrenia, we performed a detailed psychiatric assessment and confirmed that one family member has symptoms consistent with a diagnosis of schizophrenia and another has a prodromal syndrome with attenuated positive symptoms of psychosis. This report extends the clinical phenotype associated with the 17q12 microduplication and highlights the phenotypic variability
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