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Background: There is an urgent need for expanding and enhancing autism spectrum disorder (ASD) samples, in order to better understand causes of ASD.
Methods: In a unique public-private partnership, 13 sites with extensive experience in both the assessment and diagnosis of ASD embarked on an ambitious, 2-year program to collect samples for genetic and phenotypic research and begin analyses on these samples. The program was called The Autism Simplex Collection (TASC). TASC sample collection began in 2008 and was completed in 2010, and included nine sites from North America and four sites from Western Europe, as well as a centralized Data Coordinating Center.
Results: Over 1,700 trios are part of this collection, with DNA from transformed cells now available through the National Institute of Mental Health (NIMH). Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule-Generic (ADOS-G) measures are available for all probands, as are standardized IQ measures, Vineland Adaptive Behavioral Scales (VABS), the Social Responsiveness Scale (SRS), Peabody Picture Vocabulary Test (PPVT), and physical measures (height, weight, and head circumference). At almost every site, additional phenotypic measures were collected, including the Broad Autism Phenotype Questionnaire (BAPQ) and Repetitive Behavior Scale-Revised (RBS-R), as well as the non-word repetition scale, Communication Checklist (Children's or Adult), and Aberrant Behavior Checklist (ABC). Moreover, for nearly 1,000 trios, the Autism Genome Project Consortium (AGP) has carried out Illumina 1 M SNP genotyping and called copy number variation (CNV) in the samples, with data being made available through the National Institutes of Health (NIH). Whole exome sequencing (WES) has been carried out in over 500 probands, together with ancestry matched controls, and this data is also available through the NIH. Additional WES is being carried out by the Autism Sequencing Consortium (ASC), where the focus is on sequencing complete trios. ASC sequencing for the first 1,000 samples (all from whole-blood DNA) is complete and data will be released in 2014. Data is being made available through NIH databases (database of Genotypes and Phenotypes (dbGaP) and National Database for Autism Research (NDAR)) with DNA released in Dist 11.0. Primary funding for the collection, genotyping, sequencing and distribution of TASC samples was provided by Autism Speaks and the NIH, including the National Institute of Mental Health (NIMH) and the National Human Genetics Research Institute (NHGRI).
Conclusions: TASC represents an important sample set that leverages expert sites. Similar approaches, leveraging expert sites and ongoing studies, represent an important path towards further enhancing available ASD samples.
Background: While the use of plastic materials has generated huge societal benefits, the "plastic age" comes with downsides: One issue of emerging concern is the accumulation of plastics in the aquatic environment. Here, so-called microplastics (MP), fragments smaller than 5 mm, are of special concern because they can be ingested throughout the food web more readily than larger particles. Focusing on freshwater MP, we briefly review the state of the science to identify gaps of knowledge and deduce research needs.
State of the science: Environmental scientists started investigating marine (micro)plastics in the early 2000s. Today, a wealth of studies demonstrates that MP have ubiquitously permeated the marine ecosystem, including the polar regions and the deep sea. MP ingestion has been documented for an increasing number of marine species. However, to date, only few studies investigate their biological effects. The majority of marine plastics are considered to originate from land-based sources, including surface waters. Although they may be important transport pathways of MP, data from freshwater ecosystems is scarce. So far, only few studies provide evidence for the presence of MP in rivers and lakes. Data on MP uptake by freshwater invertebrates and fish is very limited.
Knowledge gaps: While the research on marine MP is more advanced, there are immense gaps of knowledge regarding freshwater MP. Data on their abundance is fragmentary for large and absent for small surface waters. Likewise, relevant sources and the environmental fate remain to be investigated. Data on the biological effects of MP in freshwater species is completely lacking. The accumulation of other freshwater contaminants on MP is of special interest because ingestion might increase the chemical exposure. Again, data is unavailable on this important issue.
Conclusions: MP represent freshwater contaminants of emerging concern. However, to assess the environmental risk associated with MP, comprehensive data on their abundance, fate, sources, and biological effects in freshwater ecosystems are needed. Establishing such data critically depends on a collaborative effort by environmental scientists from diverse disciplines (chemistry, hydrology, ecotoxicology, etc.) and, unsurprisingly, on the allocation of sufficient public funding.
Moderate physical activity improves various cognitive functions, particularly when it is applied simultaneously to the cognitive task. In two psychoneuroendocrinological within-subject experiments, we investigated whether very low-intensity motor activity, i.e. walking, during foreign-language vocabulary encoding improves subsequent recall compared to encoding during physical rest. Furthermore, we examined the kinetics of brain-derived neurotrophic factor (BDNF) in serum and salivary cortisol. Previous research has associated both substances with memory performance.In both experiments, subjects performed better when they were motorically active during encoding compared to being sedentary. BDNF in serum was unrelated to memory performance. In contrast we found a positive correlation between salivary cortisol concentration and the number of correctly recalled items. In summary, even very light physical activity during encoding is beneficial for subsequent recall.
Neurons of the mammalian neocortex are produced by proliferating cells located in the ventricular zone (VZ) lining the lateral ventricles. This is a complex and sequential process, requiring precise control of cell cycle progression, fate commitment and differentiation. We have analyzed publicly available databases from mouse and human to identify candidate genes that are potentially involved in regulating early neocortical development and neurogenesis. We used a mouse in situ hybridization dataset (The Allen Institute for Brain Science) to identify 13 genes (Cdon, Celsr1, Dbi, E2f5, Eomes, Hmgn2, Neurog2, Notch1, Pcnt, Sox3, Ssrp1, Tead2, Tgif2) with high correlation of expression in the proliferating cells of the VZ of the neocortex at early stages of development (E15.5). We generated a similar human brain network using microarray and RNA-seq data (BrainSpan Atlas) and identified 407 genes with high expression in the developing human VZ and subventricular zone (SVZ) at 8–9 post-conception weeks. Seven of the human genes were also present in the mouse VZ network. The human and mouse networks were extended using available genetic and proteomic datasets through GeneMANIA. A gene ontology search of the mouse and human networks indicated that many of the genes are involved in the cell cycle, DNA replication, mitosis and transcriptional regulation. The reported involvement of Cdon, Celsr1, Dbi, Eomes, Neurog2, Notch1, Pcnt, Sox3, Tead2, and Tgif2 in neural development or diseases resulting from the disruption of neurogenesis validates these candidate genes. Taken together, our knowledge-based discovery method has validated the involvement of many genes already known to be involved in neocortical development and extended the potential number of genes by 100's, many of which are involved in functions related to cell proliferation but others of which are potential candidates for involvement in the regulation of neocortical development.
Currently, little is known about how synesthesia develops and which aspects of synesthesia can be acquired through a learning process. We review the increasing evidence for the role of semantic representations in the induction of synesthesia, and argue for the thesis that synesthetic abilities are developed and modified by semantic mechanisms. That is, in certain people semantic mechanisms associate concepts with perception-like experiences—and this association occurs in an extraordinary way. This phenomenon can be referred to as “higher” synesthesia or ideasthesia. The present analysis suggests that synesthesia develops during childhood and is being enriched further throughout the synesthetes’ lifetime; for example, the already existing concurrents may be adopted by novel inducers or new concurrents may be formed. For a deeper understanding of the origin and nature of synesthesia we propose to focus future research on two aspects: (i) the similarities between synesthesia and ordinary phenomenal experiences based on concepts; and (ii) the tight entanglement of perception, cognition and the conceptualization of the world. Importantly, an explanation of how biological systems get to generate experiences, synesthetic or not, may have to involve an explanation of how semantic networks are formed in general and what their role is in the ability to be aware of the surrounding world.
In this paper, we investigate how the introduction of complex, model-based capital regulation affected credit risk of financial institutions. Model-based regulation was meant to enhance the stability of the financial sector by making capital charges more sensitive to risk. Exploiting the staggered introduction of the model-based approach in Germany and the richness of our loan-level data set, we show that (1) internal risk estimates employed for regulatory purposes systematically underpredict actual default rates by 0.5 to 1 percentage points; (2) both default rates and loss rates are higher for loans that were originated under the model-based approach, while corresponding risk-weights are significantly lower; and (3) interest rates are higher for loans originated under the model-based approach, suggesting that banks were aware of the higher risk associated with these loans and priced them accordingly. Further, we document that large banks benefited from the reform as they experienced a reduction in capital charges and consequently expanded their lending at the expense of smaller banks that did not introduce the model-based approach. Counter to the stated objectives, the introduction of complex regulation adversely affected the credit risk of financial institutions. Overall, our results highlight the pitfalls of complex regulation and suggest that simpler rules may increase the efficacy of financial regulation.
The recent decline in euro area inflation has triggered new calls for additional monetary stimulus by the ECB in order to counter the threat of a self‐reinforcing deflation and recession spiral. This note reviews the available evidence on inflation expectations, output gaps and other factors driving current inflation through the lens of the Phillips curve. It also draws a comparison to the Japanese experience with deflation in the late 1990s and the evidence from Japan concerning the outputinflation nexus at low trend inflation. The note concludes from this evidence that the risk of a selfreinforcing deflation remains very small. Thus, the ECB best await the impact of the long‐term refinancing operations decided in June that have the potential to induce substantial monetary accommodation once implemented for the first time in September.
This essay reviews a cornerstone of the European Banking Union project, the resolution of systemically important banks. The focus is on the inherent conflict between a possible intervention by resolution authorities, conditional on a crisis situation, and effective prevention prior to a crisis. Moreover, the paper discusses the rules for bail-in debt and conversion rules for different layers of debt. Finally, some organizational requirements to achieve effective resolution results will be analyzed.
Channelrhodopsin-1 from Chlamydomonas augustae (CaChR1) is a light-activated cation channel, which is a promising optogenetic tool. We show by resonance Raman spectroscopy and retinal extraction followed by high pressure liquid chromatography (HPLC) that the isomeric ratio of all-trans to 13-cis of solubilized channelrhodopsin-1 is with 70:30 identical to channelrhodopsin-2 from Chlamydomonas reinhardtii (CrChR2). Critical frequency shifts in the retinal vibrations are identified in the Raman spectrum upon transition to the open (conductive P2(380)) state. Fourier transform infrared spectroscopy (FTIR) spectra indicate different structures of the open states in the two channelrhodopsins as reflected by the amide I bands and the protonation pattern of acidic amino acids.
The subatomic world is governed by the strong interactions of quarks and gluons, described by Quantum Chromodynamics (QCD). Quarks experience confinement into colour-less objects, i.e. they can not be observed as free particles. Under extreme conditions such as high temperature or high density, this constraint softens and a transition to a phase where quarks and gluons are quasi-free particles (Quark-Gluon-Plasma) can occur. This environment resembles the conditions prevailing during the early stages of the universe shortly after the Big Bang.
The phase diagram of QCD is under investigation in current and future collider experiments, for example at the Large Hadron Collider (LHC) or at the Facility for Antiproton and Ion Research (FAIR). Due to the strength of the strong interactions in the energy regime of interest, analytic methods can not be applied rigorously. The only tool to study QCD from first principles is given by simulations of its discretised version, Lattice QCD (LQCD).
These simulations are in the high-performance computing area, hence, the numerical aspects of LQCD are a vital part in this field of research. In recent years, Graphic Processing Units (GPUs) have been incorporated in these simulations as they are a standard tool for general purpose calculations today.
In the course of this thesis, the LQCD application cl2qcd has been developed, which allows for simulations on GPUs as well as on traditional CPUs, as it is based on OpenCL. cl2qcd constitutes the first application for Wilson type fermions in OpenCL.
It provides excellent performance and has been applied in physics studies presented in this thesis. The investigation of the QCD phase diagram is hampered by the notorious sign-problem, which restricts current simulation algorithms to small values of the chemical potential.
Theoretically, studying unphysical parameter ranges allows for constraints on the phase diagram. Of utmost importance is the clarification of the order of the finite temperature transition in the Nf=2 chiral limit at zero chemical potential. It is not known if it is of first or second order. To this end, simulations utilising Twisted Mass Wilson fermions aiming at the chiral limit are presented in this thesis.
Another possibility is the investigation of QCD at purely imaginary chemical potential. In this region, QCD is known to posses a rich phase structure, which can be used to constrain the phase diagram of QCD at real chemical potential and to clarify the nature of the Nf=2 chiral limit. This phase structure is studied within this thesis, in particular the nature of the Roberge-Weiss endpoint is mapped out using Wilson fermions.
SAFE Newsletter : 2014, Q3
(2014)
Das Schwerionenkollisionen Programm der Beschleuniger RHIC und LHC gibt Hinweise auf einen neuen Zustand hadronischer Materie --- das Quark-Gluon Plasma. Dieses zeichnet sich durch eine zumindest partielle Aufhebung des confinements aus, welches besagt, dass keine freien Quarks beochtbar sind.
Aus einer Beschreibung der experimentellen Daten mit relativistischer Hydrodynamik folgen weitere Eigenschaften. So geht das in einer Schwerionenkollision erzeugte Quark-Gluon Plasma nach sehr kurzer Zeit, etwa 1 fm/c, in ein zumindest lokales thermisches Gleichgewicht über. Durch die Lorentzkontraktion der beiden Schwerionen erwartet man, dass der Zustand direkt nach der Kollision durch eine Impulsanisotropie in der transversal-longitudinalen Ebene bestimmt wird. Somit setzt das Erreichen eines thermischen Gleichgewichts zunächst eine Isotropisierung voraus. Bisherige Studien haben gezeigt, dass gluonische Moden bei dieser Isotropisierung durch Verursachung einer chromo-Weibel Instabilität eine entscheidende Rolle spielen.
Weiterhin verhält sich das Quark-Gluon Plasma wie eine fast perfekte Flüssigkeit. Eine Berücksichtigung dissipativer Terme in der hydrodynamischen Beschreibung erfordert das Hinzufügen weiterer Terme zu den entsprechenden Bewegungsgleichungen. Diese sind proportional zu Transportkoeffizienten, welche durch die zugrunde liegende mikroskopische Theorie festgelegt sind.
Diese Theorie ist Quantenchromodynamik. Sie beschreibt die starke Wechselwirkung der Quarks und Gluonen und ist ein fundamentaler Baustein des Standardmodells der Teilchenphysik. Da im Regelfall Prozesse der starken Wechselwirkung nichtperturbativ sind, beschreiben wir QCD unter Verwendung einer Gitterregularisierung. Diese beruht auf einer Diskretisierung der vierdimensionalen Euklidischen Raumzeit durch einen Hyperkubus mit periodischen Randbedingungen und ermöglicht ein Lösen der QCD mit numerischen Methoden. Allerdings ist die Anwendung der Gittereichtheorie auf Systeme im thermischen Gleichgewicht beschränkt und kann somit keine Prozesse beschreiben, die auf Echtzeit basieren.
Transportkoeffizienten entsprechen Proportionalitätskoeffizienten, die die Relaxation einer Flüssigkeit oder eben eines Quark-Gluon Plasmas von einer kleinen Störung beschreiben. Damit sind sie unmittelbar mit der Zeit verknüpft. Über Kubo-Formeln lassen sie sich jedoch mit Gleichgewichtserwartungswerten retardierter Korrelatoren verknüpfen und werden so in Gitter QCD zugänglich.
In der vorliegenden Dissertation berechnen wir den Transportkoeffizienten κ in Gittereichtheorie für das Yang-Mills Plasma. Dabei nutzen wir aus, dass dieser Transportkoeffizient eine triviale analytische Fortsetzung vom retardierten zum Euklidischen Korrelator besitzt, welcher direkt in Gittereichtheorie zugänglich ist. Es ist die erste nichtperturbative Berechnung eines Transportkoeffizienten in QCD ohne weitere Annahmen, wie die Maximum Entropie Methode oder Ansätze, zu treffen.
We compared Chatham Island endemic species Xanthocnemis tuanuii to its congenerics from the New Zealand South Island: X. zealandica (newly collected specimens)and X. sinclairi (type specimens plus newly collected material). Two independent tests were performed –geometric morphometrics and molecular. Both analyses were consistent in supporting the status of X. tuanuiias a good species. Species differed statistically in the following morphological traits: head (dorsal view), male appendages (dorsal, lateral, posterior and ventral views), thorax (dorsal view), and penis (dorsal and lateral view). In addition to the original diagnostic features (mainly shape of the male superior appendages), a new morphological character is suggested here which reliably distinguishes the species based on the shape of the inferior appendages. There was no statistical support for the species status of X. sinclairi. The only feature re-ported as diagnostic (lower lobe of male superior appendages) was found to be variable and insufficient to warrant the previously proposed taxonomic rank for X. sinclairi. Molecular analysis of specimens showing identical appendages to the X. sinclairi holotype grouped them with X. zealandica specimens. Therefore X. sinclairi is synonymised with X. zealandica.
In the second half of February 2014, Odonata were searched for nine days on Bali andfour days on Lombok, the western Lesser Sundas, Indonesia. One species, Orthetrum chrysishas been for the first time recorded for Bali and six species, Nosostictaemphyla, Idionyx murcia, Brachydiplax chalybea, Agrionoptera insignis, Neurothemisramburii, Rhyothemis phyllishave been for the first time recorded for Lombok. The previous lit-erature concerning the two islands is analysed. To the moment, 55 Odonata species (3 unidentified) are known for Bali and 39 for Lombok, although the actual faunas of both islands are supposed to be equally rich, and further studies on Lombok are necessary. Odonata faunas of Bali and Lombok mirror each other in respect of high shares,29 and 23%, of Odonata species ranging to the west and east of the two islands, respectively. Efficiency of Lombok Strait as a biogeographical boundary was estimated as high as 0.6, so Wallace Line is of importance for Odonata. Some diagnostic characters of N. emphyla, N. ramburii, R. phyllis phyllisand Procordulia sambawanaand a taxo-nomical situation around Prodasineura autumnalisand P. humeralis, which is not justified biogeographically, are discussed. Short notes on habitats and assemblages of Odonata are added.
The results of two expeditions into the Ulu Baleh and Ulu Balui areas of the interior of Sarawak are presented, including data from forest that was pristine at the time of sampling but that was subsequently logged. A total of 74 species are recorded, notably including Coeliccia campioni, Coeliccia new species borneensis-group, Pericnemis spp., Heliogomphusblandulus, Leptogomphus pendleburyi, Chlorogomphus ?manauand Procordulia ?new species. A discussion of the results and potential differences in the odonate fauna of comparable logged and unlogged forest sites is given.
Odonata fauna of karst streams and rivers of South Herzegovina (Bosnia and Herzegovina, West Balkan)
(2014)
Results of the odonatological survey in the Neretva River Basin in South Herzegovinakarst region of Bosnia and Herzegovina conducted from April to August 2013 are presented. The area had been pre-assessed as insufficiently known in term of its Odonata fauna, but believed to be important habitat for several species of conservation concern, particularly Coenagrion ornatum, Ceriagrion tenellum, Caliaeschna microstigma, Lindenia tetraphylla and Cordulegaster heros. Moreover, freshwater habitats of the region are increasingly threatened due to climate change and the habitat destruction due to infrastructure and hydroenergy production projects. The focus of the study was set on the streams and rivers in Neretva, Trebižat, Trebišnjica and Bregava river valleys, Hutovo blato wetland, Mostarsko blato, Dabarsko and Fatničko polje. The survey resulted in 482 Odonata records of 49 species from 52 surveyed localities. Notable results include new distribution data on species of conservation concern, particularly six new localities of C. ornatum, nine of C. microstigma and five of C. heros. Comments on species of conservation concern and brief description of habitats at all surveyed localities are provided. New data on species of conservation concern are important for better conservation planning of dragonfly species and habitats in Bosnia and Herzegovina.
A new species of the synthemistid genus Palaeosynthemis is described from the Trauna River valley in Western Highlands Province, Papua New Guinea. The new species is most similar to P. cyrene from which it can be distinguished, among other characters, by the coloration of the pterostigma (jet-black in the new species vs brownish yellow in P. cyrene) and of the wing bases (not darkened vs strongly darkened). The new species also differs from P. cyrene in having a narrow, almost parallel-sided yellow lateral synthoracic stripe and a well-defined yellow marking along most of the ventral margin of the metepimeron. In P. cyrene the lateral synthoracic stripe is markedly wider and tapered, and the yellow element along the ventral margin of the metepimeron is absent. Characters of the adult male are illustrated and the affinities of the species are discussed.
A selection of duplicates from the collection of Michel Edmond de Selys Longchamps was found at the Übersee-Museum Bremen/Germany (UMB). Selys determined a lot of Odonata in the UMB collection and sent 80 European and 76 exotic species to Bremen on 23 April, 1875. According to the labels 121 specimens could be assigned to this shipment and eleven specimens must have been sent to UMB in later years. This collection includes two paralectotypes (Progomphus gracilis Hagen inSelys, 1853;Palaemnema nathalia Selys, 1886) and seven syntypes (Rhinocypha trifasciata Selys, 1853; Dysphaea dimidiata limbata Selys, 1859; Argia sordida Hagen inSelys, 1865; Oxyagrion dissidens Selys, 1876; Oxyagrion haematinum Selys, 1876; Oxyagrion pavi-dum Hagen in Selys, 1876; Telagrion longum Selys, 1876). In addition, a male specimen of Euphaea tricolor subcostalis Selys, 1873 might also belong to the original syntype series. Altogether three specimens with labeled nomina nuda(Diplax catharina Selys, Diplax fausta Selys, Dythemis bilineata Hagen) and two labeled with manuscript names (Diplax marcellina Selys, Perithemis ovate Bates) are in this collection.
In spring and summer 2008, the Odonata fauna of the Khabr National Park (Iran) was studied for the first time. Here, we present records of the representatives of family Libellulidae only. A total of twelve libellulid Odonata were found. Most of them are common species in Iran and other parts of Kerman province. Scarce Iranian species are Trithemis arteriosa and Zygonyx torridus.
Specimens of Burmagomphus asahinai Kosterin, Makbun and Dawwrueng, 2012 and Burmagomphus divaricatus Lieftinck, 1964 from SW and NE Cambodia show differences in the development of the light pattern. One male of the latter species has unusual posterior spinules on posterior hamuli. Two males of Orientogomphus minor(Laidlaw, 1931) from the same locality in NE Cambodia have substantial differences in the thoracic and abdominal pattern. NE Cambodian specimens of Gomphidia abbotti Williamson, 1907 and Lamelligomphus castor (Lieftinck, 1941) have minor differences from data on these species from literature. Caution is necessary when composing and using keys for identification of the mentioned genera of gomphids.