121 research outputs found

    Accumulated environmental risk determining age at schizophrenia onset: a deep phenotyping-based study

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    BackgroundSchizophrenia is caused by a combination of genetic and environmental factors, as first evidenced by twin studies. Extensive efforts have been made to identify the genetic roots of schizophrenia, including large genome-wide association studies, but these yielded very small effect sizes for individual markers. In this study, we aimed to assess the relative contribution of genome-wide association study-derived genetic versus environmental risk factors to crucial determinants of schizophrenia severity: disease onset, disease severity, and socioeconomic measures.MethodsIn this parallel analysis, we studied 750 male patients from the Göttingen Research Association for Schizophrenia (GRAS) dataset (Germany) with schizophrenia for whom both genome-wide coverage of single-nucleotide polymorphisms and deep clinical phenotyping data were available. Specifically, we investigated the potential effect of schizophrenia risk alleles as identified in the most recent large genome-wide association study versus the effects of environmental hazards (ie, perinatal brain insults, cannabis use, neurotrauma, psychotrauma, urbanicity, and migration), alone and upon accumulation, on age at disease onset, age at prodrome, symptom expression, and socioeconomic parameters.FindingsIn this study, we could show that frequent environmental factors become a major risk for early schizophrenia onset when accumulated (prodrome begins up to 9 years earlier; p=2·9×10−10). In particular, cannabis use—an avoidable environmental risk factor—is highly significantly associated with earlier age at prodrome (p=3·8×10−20). By contrast, polygenic genome-wide association study risk scores did not have any detectable effects on schizophrenia phenotypes.InterpretationThese findings should be translated to preventive measures to reduce environmental risk factors, since age at onset of schizophrenia is a crucial determinant of an affected individual's fate and the total socioeconomic cost of the illness

    Vladimir Burtsev and the Russian revolutionary emigration: surveillance of foreign political refugees in London, 1891-1905.

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    PhDThe thesis describes the early life in emigration of the Russian revolutionary, historian and radical journalist Vladimir L'vovich Burtsev (17/29 November 1862 - 21 August 1942). Particular emphasis is placed on the nature and extent of the police surveillance of Burtsev and the émigré community in Europe during the period. The relationship between the Criminal Investigation Department of London's Metropolitan Police and their Russian counterparts in Europe - the Zagranichnaia agentura, ('Foreign Agency') - is examined in detail. Burtsev's biography has great contemporary relevance, unfolding, as it does, in an atmosphere of increasing anxiety in Britain (both governmental and non-official) about growing numbers of foreign anarchists, terrorists, and `aliens' in general (which would lead, in due course, to the passing of the 1905 Aliens Act) and the increasingly interventionist police methods of the era. The thesis describes Burtsev's relationship with the émigré community and its British supporters, examines his (at times extreme) political views and reviews the radical journalism which led to his trial and imprisonment in 1898. This, the `Burtsev affair', signalled a major shift in British government policy towards political refugees on the one hand and to international counter-terrorist co-operation on the other and it is one of the aims of this thesis to detail the reasons for these changes

    An examination of social media's impact on the courts in Australia

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    In 2011, Joanne Fraill, a juror, was imprisoned for eight months because she chatted on Facebook with a co-accused from the trial that she participated in.1 Fraill’s case prompts questions about how social media affect courts, legal regulators and lawyers, as well as important legal principles. Those important legal principles are: (1) public confidence in the judiciary and the courts; (2) public confidence in the legal profession; (3) open justice; and (4) the right of an accused to a fair trial. This thesis offers an analysis and conclusions on those issues. It examines case law, legislation, academic articles and internet materials on social media. It is found that some Australian courts and legal regulators would benefit from doing more to adapt their procedures and rules to social media. The extent to which Australian courts and legal regulators adapt their procedures and rules to social media can have significant repercussions on the important legal principles considered. This thesis provides Australian courts, the judiciary, legal regulators and lawyers with information and recommendations about their social media use that may assist them. The author believes that this is the first scholarly work to consider the impact that social media has had upon all of these stakeholders, and the first scholarly work in this area to recommend appropriate actions to maintain or possibly increase confidence in the judiciary, the courts and the legal profession, improve open justice and ensure that accused receive fair trials, despite the possibility that jurors may use social media inappropriately

    A single gene defect causing claustrophobia

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    Claustrophobia, the well-known fear of being trapped in narrow/closed spaces, is often considered a conditioned response to traumatic experience. Surprisingly, we found that mutations affecting a single gene, encoding a stress-regulated neuronal protein, can cause claustrophobia. Gpm6a-deficient mice develop normally and lack obvious behavioral abnormalities. However, when mildly stressed by single-housing, these mice develop a striking claustrophobia-like phenotype, which is not inducible in wild-type controls, even by severe stress. The human GPM6A gene is located on chromosome 4q32-q34, a region linked to panic disorder. Sequence analysis of 115 claustrophobic and non-claustrophobic subjects identified nine variants in the noncoding region of the gene that are more frequent in affected individuals (P=0.028). One variant in the 3'untranslated region was linked to claustrophobia in two small pedigrees. This mutant mRNA is functional but cannot be silenced by neuronal miR124 derived itself from a stress-regulated transcript. We suggest that loosing dynamic regulation of neuronal GPM6A expression poses a genetic risk for claustrophobia

    Reading level as a component of the universal culture of the male judo society

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    Pujszo Małgorzata, Stepniak Robert, Adam Marek. Reading level as a component of the universal culture of the male judo society. Journal of Education, Health and Sport. 2017;7(6):11-21. eISSN 2391-8306. DOI http://dx.doi.org/10.5281/zenodo.801818 http://ojs.ukw.edu.pl/index.php/johs/article/view/4498 The journal has had 7 points in Ministry of Science and Higher Education parametric evaluation. Part B item 1223 (26.01.2017). 1223 Journal of Education, Health and Sport eISSN 2391-8306 7 © The Author (s) 2017; This article is published with open access at Licensee Open Journal Systems of Kazimierz Wielki University in Bydgoszcz, Poland Open Access. This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited. This is an open access article licensed under the terms of the Creative Commons Attribution Non Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted, non commercial use, distribution and reproduction in any medium, provided the work is properly cited. This is an open access article licensed under the terms of the Creative Commons Attribution Non Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted, non commercial use, distribution and reproduction in any medium, provided the work is properly cited. The authors declare that there is no conflict of interests regarding the publication of this paper. Received: 05.05.2017. Revised: 23.05.2017. Accepted: 01.06.2017. Poziom czytelnictwa jako składowa kultury powszechnej męskiego środowiska judo Reading level as a component of the universal culture of the male judo society Małgorzata Pujszo1, Robert Stepniak2, Marek Adam3 1 Sekcja Kultury Fizycznej, Koło Naukowe "WyKoNa" Uniwersytet Kazimierza Wielkiego, Bydgoszcz , Polska 2 Instytut Kultury Fizycznej, Uniwersytet Kazimierza Wielkiego, Bydgoszcz , Polska 3 Zakład Sportów Walki, Akademia Wychowania Fizycznego i Sportu, Gdańsk, Polska Corresponding author: Stępniak Robert Ph. D Instytut Kultury Fizycznej, Uniwersytet Kazimierza Wielkiego, ul. Sportowa 2, 85-091 Bydgoszcz. Polska email: [email protected] Słowa kluczowe: czytelnictwo, judo, kultura powszechna Keywords: reading, judo, universal culture Streszczenie Cel: Porównanie poziomu czytelnictwa osób w populacji judoków jako elementu składowego kultury powszechnej, na tle średniej wartości czytelnictwa w grupie kontrolnej i znalezienie ewentualnych zależności czytelnictwa z treningiem judo. Materiał i metody: Przebadano grupę mężczyzn trenujących wyczynowo i rekreacyjnie judo - 36 osoby, oraz 36 mężczyzn z grupy kontrolnej używając standardowej ankiety do pomiaru czytelnictwa (za Biblioteką Narodową) rozwiniętej o pytania dotyczące treningu i wykształcenia. Wyniki: Wykazano różnice jakościowe i ilościowe w zakresie kultury czytelniczej pomiędzy osobami trenującymi judo, a standardem ogólnopolskim Wnioski: Wieloletni trening judo nie stanowi przeszkody w aplikacji kultury czytelniczej w życiu codziennym Abstract Objective: To compare the level of reading of people in the judo population as a component of universal culture, against the mean value of reading in the control group and to find possible dependence on reading with judo training. Material and Methods: Tested a group of men training professional and recreationally judo - 36 persons and 36 men in control group using a standard reading questionnaire (behind the National Library) developed for training and education. Results: It showed the qualitative and quantitative differences in reading culture were demonstrated by judo fighters and judo trainers compared the national standard Conclusions: Long-term judo training does not prevent the application of reading culture in everyday lif

    Popriste nihiliste.

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    6 p.l., 5-350 p

    Celiac disease : from basic insight to therapy development

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    Celiac disease (CD) is a common disorder of the small intestine caused by intolerance to gluten, proteins found in wheat and related cereals. In this study two major questions were addressed: i) which specific properties of gluten contribute to its disease-inducing characteristics ii) how can gluten toxicity be avoided. We found that CD-related molecule HLA-DQ2 has several features that explain why it can specifically interact with a large array of distinct gluten peptides. We also observed that some of the gluten peptides are being recognized by gluten-specific T cells in quite an unusual way, requiring the presence of a proline at position p-1. Another interesting observation was that the disease-inducing properties of rye and barley could be explained by the cross-reaction of gluten-specific T cells with the homologous peptides from these cereals. Although genetic studies indicated that the gene for prolyl endopeptidase could be involved in the pathogenesis of CD we showed that most likely this gene does not play a role in the disease development. Finally, we demonstrated that prolyl endoprotease from Aspergillus niger could be an effective measure to detoxify gluten in vitro

    Expanding the set of rhodococcal Baeyer–Villiger monooxygenases by high-throughput cloning, expression and substrate screening

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    To expand the available set of Baeyer–Villiger monooxygenases (BVMOs), we have created expression constructs for producing 22 Type I BVMOs that are present in the genome of Rhodococcus jostii RHA1. Each BVMO has been probed with a large panel of potential substrates. Except for testing their substrate acceptance, also the enantioselectivity of some selected BVMOs was studied. The results provide insight into the biocatalytic potential of this collection of BVMOs and expand the biocatalytic repertoire known for BVMOs. This study also sheds light on the catalytic capacity of this large set of BVMOs that is present in this specific actinomycete. Furthermore, a comparative sequence analysis revealed a new BVMO-typifying sequence motif. This motif represents a useful tool for effective future genome mining efforts.
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