Rare copy number variants have a prominent role in the aetiology of schizophrenia and other neuropsychiatric disorders. Substantial risk for schizophrenia is conferred by large CNVs at several loci, including microdeletions at 1q21.1, 3q29, 15q13.3 and 22q11.2 and microduplication at 16p11.2. However, these CNVs collectively account for a small fraction of cases, and the relevant genes and neurobiological mechanisms are not well understood. Here we performed a large two-stage genome-wide scan of rare CNVs and report the significant association of copy (...) number gains at chromosome 7q36.3 with schizophrenia. Microduplications with variable breakpoints occurred within a 362-kilobase region and were detected in 29 of 8,290 patients versus 2 of 7,431 controls in the combined sample. All duplications overlapped or were located within 89 kilobases upstream of the vasoactive intestinal peptide receptor gene VIPR2. VIPR2 transcription and cyclic-AMP signalling were significantly increased in cultured lymphocytes from patients with microduplications of 7q36.3. These findings implicate altered vasoactive intestinal peptide signalling in the pathogenesis of schizophrenia and indicate the VPAC2 receptor as a potential target for the development of new antipsychotic drugs. © 2011 Macmillan Publishers Limited. All rights reserved. (shrink)

Die Analyse von R. M. Rilkes »Atmen« (Sonette an Orpheus) zeichnet einen Begriff von Rhythmus nach, der das Gedicht als exemplarischen Beitrag zur Rhythmusdebatte um 1900 lesbar macht. Das Sonett wird zum Ausgangspunkt von Überlegungen zur Logik von zeitgenössischen Rhythmuskonzepten: Indem das Gedicht genau die neuen Raummodelle aufruft, die Wissenschaften und Kunst der Jahrhundertwende entwerfen, läßt es einen modernen Rhythmusbegriff denkbar werden. Zugleich stellt das Sonett die zentrale Frage nach poetischer Repräsentation unter den Bedingungen jener rhythmischen Räume.

Die Analyse von R. M. Rilkes »Atmen« ( Sonette an Orpheus ) zeichnet einen Begriff von Rhythmus nach, der das Gedicht als exemplarischen Beitrag zur Rhythmusdebatte um 1900 lesbar macht. Das Sonett wird zum Ausgangspunkt von Überlegungen zur Logik von zeitgenössischen Rhythmuskonzepten: Indem das Gedicht genau die neuen Raummodelle aufruft, die Wissenschaften und Kunst der Jahrhundertwende entwerfen, läßt es einen modernen Rhythmusbegriff denkbar werden. Zugleich stellt das Sonett die zentrale Frage nach poetischer Repräsentation unter den Bedingungen jener rhythmischen Räume.

Background: Serious games have shown positive results in increasing motivation, adherence to treatment and strengthening the therapeutic alliance in multiple psychiatric disorders. In particular, patients with impulse control disorders and other disorders in which the patient suffers from inhibitory control deficits have been shown to benefit from serious games.Aim: The aim of this study was to describe the characteristics and to evaluate the usability of a new serious videogame, e-Estesia. This serious videogame was designed to improve emotion regulation in patients (...) with gambling disorder. Preliminary results from a pilot sample are also reported.Method: A pilot sample of 26 patients undergoing treatment for GD was recruited. Participants used e-Estesia on a tablet, which was connected to a thoracic band that sent heart rate and heart rate variability data to the videogame platform in order to provide biofeedback. The System Usability Scale was completed by patients to determine the usability of e-Estesia.Results and Discussion: e-Estesia performed comparatively well for all the explored groups. Around 84.6% of the patients endorsed that it was easy to use. Female patients with GD presented higher HRV during the use of the serious videogame compared to men. (shrink)

Frankfurt/M., Berlin, Bern, Bruxelles, New York, Oxford, Wien. Herausgegeben von Wilhelm Lutterfelds, Richard Raatzsch und Andreas Roser. The works of both Goethe and Wittgenstein are a permanent challenge. Goethe's lasting effectiveness is to be found in the alternative nature of his world-view (Weltan-Schauung), which may be characterized as a morphological access to the manifold of phenomena. Lasting in a similar way to the effect of Goethe, one could certainly say today that Wittgenstein's effect has lasted. This is no coincidence. (...) The fact that late Wittgenstein goes together with Goethe in fundamental respects, or even follows him, cannot be overseen. Wittgenstein's lasting legacy has, to a large extent, the same source as that of Goethe's. - This relation is the subject of this book. Contents: Fritz Breithaupt/Richard Raatzsch: Introduction - James C. Klagge: The Puzzle of Goethe's Influence on Wittgenstein - Matthias Kross: Engineering Phenomena: Wittgenstein and Goethe on Scientific Method - Nikos Psarros: "Water is one individual thing - it never changes." Quoting Faraday in the Philosophical Investigations: A Riddle with a Goethean Solution? - Joachim Schulte: Goethe and Wittgenstein on Morphology - Fritz Breithaupt: Non-Referentiality: A Common Strategy in Goethe's Urphanomen and Wittgenstein's Language-Game - Alfred Nordmann: "I have changed his way of seeing" -Goethe, Lichtenberg, and Wittgenstein - Garry Hagberg: The Mind shown. Wittgenstein, Goethe and the Question of Person-Perception - Richard Eldridge: Romantic Subjectivity in Goethe and Wittgenstein - Richard Raatzsch: Goethe's Wahlverwandtschaften - The Ethical Investigations of Late Wittgenstein? (shrink)

Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk‐assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery.Recent developments (...) in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non‐invasive prenatal testing (NIPT) that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable.This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent ‘reproductive autonomy’ is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy‐related problems, non‐directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue. (shrink)