E-Book : Research findings from the digital factory

Digitale Lesezeichen, Volltextsuche und Multimedia-Inhalte – die Ende des 20. Jahrhunderts durch das Internet ausgelöste Medienrevolution ließ auch das Buch nicht unberührt. Die Verbreitung des World Wide Webs parallel zur rasanten Entwicklung der Computertechnologie ermöglichte die Digitalisierung des Buches und bildete das E-Book als neue Publikationsform heraus. Seit etwa zehn Jahren können Bücher nicht mehr nur gedruckt, sondern auch elektronisch zur Verfügung gestellt werden, was für die Buchbranche und den Leser einige Veränderungen bedeutet. Moderne Lesegeräte, auch E-Reader genannt, erlauben die Speicherung einer ganzen Bibliothek auf einem einzigen mobilen Endgerät. Dabei steht das einzelne E-Book dem gedruckten Buch in seiner Lesequalität in nichts nach und ermöglicht zudem das Einfügen elektronischer Notizen und Lesezeichen, die Volltextsuche nach bestimmten Wörtern und die Verbindung von Text mit Bild, Ton und Video. Dennoch kann das E-Book seit seinem Aufkommen in Deutschland noch keine Erfolgsgeschichte schreiben. Insbesondere hohe Preise für die Lesegeräte halten immer noch viele Leser vom Nutzen der E-Books ab. Zu sehr ist das gedruckte Buch für zahlreiche Menschen noch fester Bestandteil ihres alltäglichen Lebens, als das sie es bereits durch das E-Book austauschen würden. Eine Situation, die einige Fragen aufwirft: Wird sich das EBook als Medium durchsetzen und das gedruckte Buch langfristig ablösen? Kann das EBook neben Zeitung, Radio, Fernsehen und Buch überhaupt als ein neues Medium verstanden werden? Und welche Veränderungen würde die massenhafte Verbreitung elektronischer Bücher mit sich bringen

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic traits, we performed meta-analyses of 21 genome-wide association studies informative for fasting glucose, fasting insulin and indices of beta-cell function (HOMA-B) and insulin resistance (HOMA-IR) in up to 46,186 nondiabetic participants. Follow-up of 25 loci in up to 76,558 additional subjects identified 16 loci associated with fasting glucose and HOMA-B and two loci associated with fasting insulin and HOMA-IR. These include nine loci newly associated with fasting glucose (in or near ADCY5, MADD, ADRA2A, CRY2, FADS1, GLIS3, SLC2A2, PROX1 and C2CD4B) and one influencing fasting insulin and HOMA-IR (near IGF1). We also demonstrated association of ADCY5, PROX1, GCK, GCKR and DGKB-TMEM195 with type 2 diabetes. Within these loci, likely biological candidate genes influence signal transduction, cell proliferation, development, glucose-sensing and circadian regulation. Our results demonstrate that genetic studies of glycemic traits can identify type 2 diabetes risk loci, as well as loci containing gene variants that are associated with a modest elevation in glucose levels but are not associated with overt diabetes

Delineating the GRIN1 phenotypic spectrum: a distinct genetic NMDA receptor encephalopathy

Objective:To determine the phenotypic spectrum caused by mutations in GRIN1 encoding the NMDA receptor subunit GluN1 and to investigate their underlying functional pathophysiology.Methods:We collected molecular and clinical data from several diagnostic and research cohorts. Functional consequences of GRIN1 mutations were investigated in Xenopus laevis oocytes.Results:We identified heterozygous de novo GRIN1 mutations in 14 individuals and reviewed the phenotypes of all 9 previously reported patients. These 23 individuals presented with a distinct phenotype of profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, hyperkinetic movement disorder, oculogyric crises, cortical blindness, generalized cerebral atrophy, and epilepsy. Mutations cluster within transmembrane segments and result in loss of channel function of varying severity with a dominant-negative effect. In addition, we describe 2 homozygous GRIN1 mutations (1 missense, 1 truncation), each segregating with severe neurodevelopmental phenotypes in consanguineous families.Conclusions:De novo GRIN1 mutations are associated with severe intellectual disability with cortical visual impairment as well as oculomotor and movement disorders being discriminating phenotypic features. Loss of NMDA receptor function appears to be the underlying disease mechanism. The identification of both heterozygous and homozygous mutations blurs the borders of dominant and recessive inheritance of GRIN1-associated disorders.Johannes R. Lemke (32EP30_136042/1) and Peter De Jonghe (G.A.136.11.N and FWO/ESF-ECRP) received financial support within the EuroEPINOMICS-RES network (www.euroepinomics.org) within the Eurocores framework of the European Science Foundation (ESF). Saskia Biskup and Henrike Heyne received financial support from the German Federal Ministry for Education and Research (BMBF IonNeurONet: 01 GM1105A and FKZ: 01EO1501). Katia Hardies is a PhD fellow of the Institute for Science and Technology (IWT) Flanders. Ingo Helbig was supported by intramural funds of the University of Kiel, by a grant from the German Research Foundation (HE5415/3-1) within the EuroEPINOMICS framework of the European Science Foundation, and additional grants of the German Research Foundation (DFG, HE5415/5-1, HE 5415/6-1), German Ministry for Education and Research (01DH12033, MAR 10/012), and grant by the German chapter of the International League against Epilepsy (DGfE). The project also received infrastructural support through the Institute of Clinical Molecular Biology in Kiel, supported in part by DFG Cluster of Excellence "Inflammation at Interfaces" and "Future Ocean." The project was also supported by the popgen 2.0 network (P2N) through a grant from the German Ministry for Education and Research (01EY1103) and by the International Coordination Action (ICA) grant G0E8614N. Christel Depienne, Caroline Nava, and Delphine Heron received financial support for exome analyses by the Centre National de Genotypage (CNG, Evry, France)

A randomised controlled trial of the efficacy of the ABCD Parenting Young Adolescents Program: rationale and methodology

Background: The transition to adolescence is a time of increased vulnerability for risk taking and poor health, social and academic outcomes. Parents have an important role in protecting their children from these potential harms. While the effectiveness of parenting programs in reducing problem behavior has been demonstrated, it is not known if parenting programs that target families prior to the onset of significant behavioral difficulties in early adolescence (9-14 years) improve the wellbeing of adolescents and their parents. This paper describes the rationale and methodology of a randomised controlled trial testing the efficacy of a parenting program for the promotion of factors known to be associated with positive adolescent outcomes, such as positive parenting practices, parent-adolescent relationships and adolescent behavior.Methods/Design: One hundred and eighty parents were randomly allocated to an intervention or wait list control group. Parents in the intervention group participated in the ABCD Parenting Young Adolescents Program, a 6-session behavioral family intervention program which also incorporates acceptance-based strategies. Participants in the Wait List control group did not receive the intervention during a six month waiting period. The study was designed to comply with recommendations of the CONSORT statement. The primary outcome measures were reduction in parent-adolescent conflict and improvements in parent-adolescent relationships. Secondary outcomes included improvements in parent psychosocial wellbeing, parenting self-efficacy and perceived effectiveness, parent-adolescent communication and adolescent behavior.Conclusions: Despite the effectiveness of parenting programs in reducing child behavioral difficulties, very few parenting programs for preventing problems in adolescents have been described in the peer reviewed literature. This study will provide data which can be used to examine the efficacy of a universal parenting interventions for the promotion of protective factors associated with adolescent wellbeing and will add to the literature regarding the relationships between parent, parenting and adolescent factors

Off to new shores: Climate niche expansion in invasive mosquitofish (Gambusia spp.)

Aim: Formerly introduced for their presumed value in controlling mosquito-borne diseases, the two mosquitofish Gambusia affinis and G. holbrooki (Poeciliidae) are now among the world's most widespread invasive alien species, negatively impacting aquatic ecosystems around the world. These inconspicuous freshwater fish are, once their presence is noticed, difficult to eradicate. It is, therefore, of utmost importance to assess their geographic potential and to identify their likely ability to persist under novel climatic conditions. Location Global. Methods We build species distribution models using occurrence data from the native and introduced distribution ranges to identify putative niche shifts and further ascertain the areas climatically suitable for the establishment and possible spread of mosquitofish. Results We found significant niche expansions into climatic regions outside their natural climatic conditions, emphasizing the importance of integrating climatic niches of both native and invasive ranges into projections. In particular, there was a marked shift toward tropical regions in Asia and a clear niche shift of European G. holbrooki. This ecological flexibility partly explains the massive success of the two species, and substantially increases the risk for further range expansion. We also showed that the potential for additional expansion resulting from climate change is enormous—especially in Europe. Main conclusions Despite the successful invasion history and ongoing range expansions, many countries still lack proper preventive measures. Thus, we urge policy makers to carefully evaluate the risk both mosquitofish pose to a particular area and to initiate appropriate management strategies

Data from: Thermal regime drives a latitudinal gradient in morphology and life history in a livebearing fish

Within-species diversity is often driven by changing selective regimes along environmental gradients. Here, we provide a direct test of environmental factors underlying phenotypic diversity across the wide native distribution of Eastern mosquitofish (Gambusia holbrooki). We investigated life-history and body-shape divergence (including multiple measures of body size) across more than 14 degrees of latitude in North America, and used AIC-based model selection to determine the relative contributions of thermal regime, population densities, and habitat productivity as potential drivers of latitudinal phenotypic variation. We found thermal regime to be the most important driver of large-scale latitudinal phenotypic patterns: populations in colder climates with greater seasonality and range in temperature exhibited larger body size, larger reproductive investment coupled with smaller offspring size, and shallower bodies with a smaller head and more anterodorsally positioned pectoral fins. Nonetheless, population density and habitat productivity also influenced trait divergence, but independent of latitudinal patterns, and some variation in body shape was due to apparent covariation with life histories. Our study confirms thermal regime as an important driver of latitudinal phenotypic differentiation even in ectotherms, but also uncovers multiple additional factors that shape phenotypic diversity, emphasizing the importance of the multivariate approach we employed here

Riesch et al 2018 Data

The first data sheet provides the environmental data we measured at each site (conductivity and chlorophyll a) as well as the climate data we downloaded from the WorldClim database (Hijmans et al. 2005 International Journal of Climatology 25:1965–1978); the second data sheet provides all the male life history data; the third data sheet provides all the female life history data; the fourth data sheet provides all the microsatellite fragment lengths we used for the population genetic analyses presented in the online supplement of our publication

Gradient evolution of body colouration in surface- and cave-dwelling Poecilia mexicana and the role of phenotype-assortative female mate choice

Ecological speciation assumes reproductive isolation to be the product of ecologically based divergent selection. Beside natural selection, sexual selection via phenotype-assortative mating is thought to promote reproductive isolation. Using the neotropical fish Poecilia mexicana from a system that has been described to undergo incipient ecological speciation in adjacent, but ecologically divergent habitats characterized by the presence or absence of toxic H2S and darkness in cave habitats, we demonstrate a gradual change in male body colouration along the gradient of light/darkness, including a reduction of ornaments that are under both inter- and intrasexual selection in surface populations. In dichotomous choice tests using video-animated stimuli, we found surface females to prefer males from their own population over the cave phenotype. However, female cave fish, observed on site via infrared techniques, preferred to associate with surface males rather than size-matched cave males, likely reflecting the female preference for better-nourished (in this case: surface) males. Hence, divergent selection on body colouration indeed translates into phenotype-assortative mating in the surface ecotype, by selecting against potential migrant males. Female cave fish, by contrast, do not have a preference for the resident male phenotype, identifying natural selection against migrants imposed by the cave environment as the major driver of the observed reproductive isolation

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

Epilepsies have a highly heterogeneous background with a strong genetic contribution. The variety of unspecific and overlapping syndromic and nonsyndromic phenotypes often hampers a clear clinical diagnosis and prevents straightforward genetic testing. Knowing the genetic basis of a patient's epilepsy can be valuable not only for diagnosis but also for guiding treatment and estimating recurrence risks