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Sustainable consumption: towards action and impact. : International scientific conference November 6th-8th 2011, Hamburg - European Green Capital 2011, Germany: abstract volume (2011)

This volume contains the abstracts of all oral and poster presentations of the international scientific conference „Sustainable Consumption – Towards Action and Impact“ held in Hamburg (Germany) on November 6th-8th 2011. This unique conference aims to promote a comprehensive academic discourse on issues concerning sustainable consumption and brings together scholars from a wide range of academic disciplines.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder (2011)

Jillian P. Casey Tiago Magalhaes Judith M. Conroy Regina Regan Naisha Shah Richard Anney Denis C. Shields Brett S. Abrahams Joana Almeida Elena Bacchelli Anthony J. Bailey Gillian Baird Agatino Battaglia Tom Berney Nadia Bolshakova Patrick F. Bolton Thomas Bourgeron Sean Brennan Phil Cali Catarina Correia Christina Corsello Marc Coutanche Geraldine Dawson Maretha de Jonge Richard Delorme Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A. Fernandez Susan E. Folstein Suzanne Foley Eric Fombonne Christine M. Freitag John Gilbert Christopher Gillberg Joseph T. Glessner Jonathan Green Stephen J. Guter Hakon Hakonarson Richard Holt Gillian Hughes Vanessa Hus Roberta Igliozzi Cecilia Kim Sabine M. Klauck Alexander Kolevzon Janine A. Lamb Marion Leboyer Ann Le Couteur Bennett L. Leventhal Catherine Lord Sabata C. Lund Elena Maestrini Carine Mantoulan Christian R. Marshall Helen McConachie Christopher J. McDougle Jane McGrath William M. McMahon Alison Merikangas Judith Miller Fiorella Minopoli Ghazala K. Mirza Jeff Munson Stanley F. Nelson Gudrun Nygren Guiomar Oliveira Alistair T. Pagnamenta Katerina Papanikolaou Jeremy R. Parr Barbara Parrini Andrew Pickles Dalila Pinto Joseph Piven David J. Posey Annemarie Poustka Fritz Poustka Jiannis Ragoussis Bernadette Roge Michael L. Rutter Ana F. Sequeira Latha Soorya Inês Sousa Nuala Sykes Vera Stoppioni Raffaella Tancredi Maïté Tauber Ann P. Thompson Susanne Thomson John Tsiantis Herman Van Engeland John B. Vincent Fred Volkmar Jacob A. S. Vorstman Simon Wallace Kai Wang Thomas H. Wassink Kathy White Kirsty Wing Kerstin Wittemeyer Brian L. Yaspan Lonnie Zwaigenbaum Catalina Betancur Joseph D. Buxbaum Rita M. Cantor Edwin H. Cook Hilary Coon Michael L. Cuccaro Daniel H. Geschwind Jonathan L. Haines Joachim Hallmayer Anthony P. Monaco John I. Nurnberger Jr. Margaret A. Pericak-Vance Gerard D. Schellenberg Stephen W. Scherer James S. Sutcliffe Peter Szatmari Veronica J. Vieland Ellen M. Wijsman Andrew Green Michael Gill Louise Gallagher Astrid Vicente Sean Ennis

Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.

WeNMR: the tale of virtual research community in NMR and structural biology (2011)

Alexandre Bonvin Chris Spronk Marco Verlato Antonio Rosato Harald Schwalbe Ernest Laue Geerten Vuister Gert Vriend Dmitri Svergun

EGI user forum 2011 : book of abstracts (2011)

The high return to private schooling in a low-income country (2011)

Tessa Bold Mwangi Kimenyi Germano Mwabu Justin Sandefur

Existing studies from the United States, Latin America, and Asia provide scant evidence that private schools dramatically improve academic performance relative to public schools. Using data from Kenya—a poor country with weak public institutions—we find a large effect of private schooling on test scores, equivalent to one full standard deviation. This finding is robust to endogenous sorting of more able pupils into private schools. The magnitude of the effect dwarfs the impact of any rigorously tested intervention to raise performance within public schools. Furthermore, nearly twothirds of private schools operate at lower cost than the median government school.

Why did abolishing fees not increase public school enrollment in Kenya? (2011)

Tessa Bold Mwangi Kimenyi, Germano Mwabu Justin Sandefur

A large empirical literature has shown that user fees signicantly deter public service utilization in developing #countries. While most of these results reflect partial equilibrium analysis, we find that the nationwide abolition of public school fees in Kenya in 2003 led to no increase in net public enrollment rates, but rather a dramatic shift toward private schooling. Results suggest this divergence between partial- and general-equilibrium effects is partially explained by social interactions: the entry of poorer pupils into free education contributed to the exit of their more affluent peers.

YIVO news = Jedīʿōt fun JIWO : No. 207 Fall 2011 (2011)

Restriction of trophic factors and nutrients induces PARKIN expression (2011)

Michael Klinkenberg Suzana Gispert Jorge Antolio Dominguez Bautista Isabelle Braun Georg Auburger Marina Jendrach

Parkinson's disease (PD) is the most frequent neurodegenerative movement disorder and manifests at old age. While many details of its pathogenesis remain to be elucidated, in particular the protein and mitochondrial quality control during stress responses have been implicated in monogenic PD variants. Especially the mitochondrial kinase PINK1 and the ubiquitin ligase PARKIN are known to cooperate in autophagy after mitochondrial damage. As autophagy is also induced by loss of trophic signaling and PINK1 gene expression is modulated after deprivation of cytokines, we analyzed to what extent trophic signals and starvation stress regulate PINK1 and PARKIN expression. Time course experiments with serum deprivation and nutrient starvation of human SH-SY5Y neuroblastoma cells and primary mouse neurons demonstrated phasic induction of PINK1 transcript up to twofold and PARKIN transcript levels up to sixfold. The corresponding threefold starvation induction of PARKIN protein was limited by its translocation to lysosomes. Analysis of primary mouse cells from PINK1-knockout mice indicated that PARKIN induction and lysosomal translocation occurred independent of PINK1. Suppression of the PI3K-Akt-mTOR signaling by pharmacological agents modulated PARKIN expression accordingly. In conclusion, this expression survey demonstrates that PARKIN and PINK1 are coregulated during starvation and suggest a role of both PD genes in response to trophic signals and starvation stress.

Platypnea-orthodeoxia due to osteoporosis and severe kyphosis: a rare cause for dyspnea and hypoxemia (2011)

Claudius Teupe Gerian Groenefeld

Platypnea orthodeoxia is a rare disorder characterized by dyspnea and arterial desaturation, exacerbated by the upright position and relieved when the subject is recumbent. We report the case of a 79-year old woman admitted to hospital with dyspnea who was thought to have restrictive ventilatory impairment due to osteoporosis and severe kyphosis. Interestingly, the dyspnea was aggravated in the upright position, whereas the symptoms improved in the supine position. Arterial blood gas analysis confirmed orthodeoxia. The lung function test showed only a mild obstructive and restrictive ventilation disorder. Echocardiography revealed a patent foramen ovale and an aneurysm of the atrial septum protruding into the left atrium, despite normal right atrial pressure. Transesophageal echocardiography showed a prominent Eustachian valve guiding a blood flow from the inferior vena cava directly onto the atrial septum, thereby pushing open the patent foramen ovale. Contrast-enhanced echocardiography confirmed a spontaneous right-to-left shunt through the patent foramen ovale. It was assumed that the platypnea-orthodeoxia was caused by a prominent Eustachian valve redirected to the patent foramen ovale as a result of severe osteoporosis with subsequent thoracic kyphosis and a change in the position of the entire heart. The patient underwent permanent transcatheter closure of the patent foramen ovale after hemodynamic assessment had confirmed a significant right-to-left shunt through it. After the procedure the arterial oxygen pressure increased significantly in the upright position and dyspnea improved.

A consensus statement on practical skills in medical school - a position paper by the GMA Committee on Practical Skills (2011)

Kai Schnabel Patrick Daniel Boldt Georg Breuer Andreas Fichtner Gudrun Karsten Sandy Kujumdshiev Michael Schmidts Christoph Stosch

Introduction: Encouraged by the change in licensing regulations the practical professional skills in Germany received a higher priority and are taught in medical schools therefore increasingly. This created the need to standardize the process more and more. On the initiative of the German skills labs the German Medical Association Committee for practical skills was established and developed a competency-based catalogue of learning objectives, whose origin and structure is described here. Goal of the catalogue is to define the practical skills in undergraduate medical education and to give the medical schools a rational planning basis for the necessary resources to teach them. Methods: Building on already existing German catalogues of learning objectives a multi-iterative process of condensation was performed, which corresponds to the development of S1 guidelines, in order to get a broad professional and political support. Results: 289 different practical learning goals were identified and assigned to twelve different organ systems with three overlapping areas to other fields of expertise and one area of across organ system skills. They were three depths and three different chronological dimensions assigned and the objectives were matched with the Swiss and the Austrian equivalent. Discussion: This consensus statement may provide the German faculties with a basis for planning the teaching of practical skills and is an important step towards a national standard of medical learning objectives. Looking ahead: The consensus statement may have a formative effect on the medical schools to teach practical skills and plan the resources accordingly.

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