bluuebunny/crossref_metadata_2025 huggingface dataset:
Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS)
Authors: Palecek Tomas , Honzikova Jitka , Poupetova Helena , Vlaskova Hana , Kuchynka Petr , Golan Lubor , Magage Sudheera , Linhart Ales
Published: October 2013

Background

A number of studies have already investigated the prevalence of Fabry disease (FD) in adult patients with unexplained left ventricular hypertrophy (LVH) with rates varying from 0 % up to 12 % reflecting referral and gender bias as well as differences in diagnostic methodology. We aimed to perform a prospective screening study evaluating the prevalence of FD in male patients older than 30 years with strictly defined unexplained LVH followed by general cardiologists.

Methods

A predefined number of 100 men with unexplained LVH, defined as maximal wall thickness ≥ 13 mm, were identified during an echocardiographic examination in primary cardiology practice and screened by assessing α‐galactosidase A activity in dried blood spots (DBS) or in plasma.

Results

Four men (52 ± 4 years, maximal LV wall thickness 18 ± 3 mm) were diagnosed with FD confirmed by enzyme analysis in leukocytes as well as by genetic analysis. Mild extracardiac manifestations of FD were present in two of them.

Conclusions

The prevalence of FD in our cohort of male patients followed in primary cardiology practice with strictly defined otherwise unexplained LVH was 4 %. We recommend systematic screening for FD in all men older than 30 years with LVH of unknown etiology even in the absence of obvious extracardiac manifestations of FD.
Comparing reports of peer rejection: Associations with rejection sensitivity, victimization, aggression, and friendship
Authors: Zimmer‐Gembeck Melanie J. , Nesdale Drew , McGregor Leanne , Mastro Shawna , Goodwin Belinda , Downey Geraldine
Published: October 2013

Perceiving that one is rejected is an important correlate of emotional maladjustment. Yet, self‐perceptions can substantially differ from classmate‐reports of who is rejected. In this study, discrepancies between self‐ and classmate‐reports of rejection were identified in 359 Australian adolescents (age 10–12 years). As expected, adolescents who overestimated rejection reported more rejection sensitivity and felt more victimized by their peers, but were not seen by peers as more victimized. Adolescents who underestimated rejection identified themselves as high in overt aggression, and their peers identified them as high in overt and relational aggression and low in prosocial behavior. Yet, underestimators' feelings of friendship satisfaction did not seem to suffer and they reported low rejection sensitivity. Results suggest that interventions to promote adolescent health should explicitly recognize the different needs of those who do and do not seem to perceive their high rejection, as well as adolescents who overestimate their rejection.
Remarks on Murre's conjecture on Chow groups
Authors: Xu Kejian , Xu Ze
Published: October 2013

For certain product varieties, Murre's conjecture on Chow groups is investigated. More precisely, let k be an algebraically closed field, X be a smooth projective variety over k and C be a smooth projective irreducible curve over k with function field K. Then we prove that if X (resp. XK) satisfies Murre's conjectures (A) and (B) for a set of Chow-Künneth projectors {, 0 ≤ i ≤ 2dim X} of X (resp. for {()K} of XK) and if for any j, , then the product variety X × C also satisfies Murre's conjectures (A) and (B). As consequences, it is proved that if C is a curve and X is an elliptic modular threefold over k (an algebraically closed field of characteristic 0) or an abelian variety of dimension 3, then Murre's conjecture (B) is true for the fourfold X × C.
Aboriginal Trade in Fish and Seafoods to Settlers in Nineteenth-Century South-East Queensland
Authors: Kerkhove Ray
Published: October 2013

Aboriginal peoples have been ‘doing business’ with foreigners for centuries (McCarthy 1939; Langton, Mazel and Palmer 2006), yet research to date has focused either on traditional exchange networks (Donovan and Wall 2004) or the impact of Western goods. Thus Harrison (2002) and Jones (2007) plotted Aboriginal exchange values and redistribution systems for iron and cloth. The general impression from such works is that, following European contact, Aboriginal society was radically transformed, while Europeans received curios. For example, Western goods stimulated a ‘glass artefact industry’ (Harrison 2003) and Aboriginal ‘doggers’ controlled dingos (Young 2010), but only officials or anthropologists had use for the resultant spearheads and scalps. At best, Aboriginal–European trade is considered inconsequential — ‘trinkets for trash’ — while Noel Butlin's (1994) analysis of the colonial economy entirely ignores it. Discussion of profitable exchange seems limited to the post-1950s arts trade (Kleinert 2010: 175). The notion that Aboriginal people might ‘flourish’ in trade or labour with Europeans (e.g. Anderson 1983) is discarded as absurd (White 2011: 81). This is perplexing, because colonial expansion saw commercial exchanges with Indigenous peoples all over the globe. Trade between Europeans and native people forms the opening chapter of national histories — for example, those of Canada and New Zealand (Innis 1999; Salmond 1997; McLusker 2006).
Robert Hogg, 'Men and manliness on the frontier: Queensland and British Columbia in the mid-nineteenth century', London: Palgrave Macmillan, 2012, ISBN 9 7802 3025 0178, 232 pp., RRP £55.00
Authors: Gehrmann Richard
Published: October 2013

Robert Hogg, Men and manliness on the frontier: Queensland and British Columbia in the mid-nineteenth century, London: Palgrave Macmillan, 2012, ISBN 9 7802 3025 0178, 232 pp., RRP £55.00
Olsson Kristina, 'Boy, lost', St Lucia: University of Queensland Press, 2013, ISBN 9 780 7022 4953 2, 258 pp., RRP A$29.95
Authors: Bayes Chantelle
Published: October 2013

Olsson Kristina, Boy, lost, St Lucia: University of Queensland Press, 2013, ISBN 9 780 7022 4953 2, 258 pp., RRP A$29.95
Geordie Williamson, 'The burning library: our great novelists lost and found', Melbourne: Text, 2012, ISBN 9 7819 2192 2985, 304 pp, RRP A$32.99
Authors: Condliffe Patrick
Published: October 2013

Geordie Williamson, The burning library: our great novelists lost and found, Melbourne: Text, 2012, ISBN 9 7819 2192 2985, 304 pp, RRP A$32.99
DOCUMENTS, ARCHIVES, AND PROOF AROUND 1700
Authors: HEAD RANDOLPH C.
Published: October 2013

Jean Mabillon'sDe re diplomatica, whose importance for diplomatics and the philosophy of history is well recognized, also contributed to the seventeenth-century European debate over the relationship among documents, archives, and historical or juridical proof. This article juxtaposes early works on diplomatics by Mabillon, Daniel Papebroche, and Barthélémy Germon against Germanius archivitheorists including Rutger Ruland and Ahasver Fritsch to reveal two incommensurate approaches that emerged around 1700 for assessing the authority of written records. Diplomatics concentrated on comparing the material and textual features of individual documents to authentic specimens in order to separate the genuine from the spurious, whereas theius archiviemphasized thepublica fides(public faith) that documents derived from their placement in an authentic sovereign's archive. Diplomatics' emergence as a separate auxiliary science of history encouraged the erasure of archivality from the primary conditions of documentary assessment for historians, however, while theius archivi's privileging of institutional over material criteria for authority foreshadowed European state practice and the evolution of archivistics into the twentieth century. This article investigates these competing discourses of evidence and their implications from the perspective of early modern archival practices.
FREDERICK, PRINCE OF WALES, AND THE FIRST PERFORMANCE OF ‘RULE, BRITANNIA!’
Authors: COX OLIVER J. W.
Published: October 2013

The words and music of ‘Rule, Britannia!’ are synonymous with the expansionist, triumphalist, and imperialist Britain symbolized by fluttering Union Jacks on the Last Night of the Proms. This article explores the cultural and political contexts of the first performance of this important national cultural artefact as the finale ofAlfred: a masqueto suggest that this opening night served a very different purpose. The first audience was a court in exile from the metropolitan heart of London, popular amongst the general public, but without any prospects of government. Two of the most important members of this group of peers, politicians, poets and a prince had recently died, and with them any cohesive identity.Alfredis both a desperate plea for unity, a rallying cry which forcefully restated the key tenets of this group's identity, and a delayed expression of patriotic celebration occasioned by Admiral Vernon's capture of Portobello. Through addressing this performance, this article makes an important contribution to our understanding of Hanoverian political culture and highlights the continuing impact of Anglo-Saxon England on mid-eighteenth-century Britain.
The Impact of Government Intervention in Banks on Corporate Borrowers’ Stock Returns
Authors: Norden Lars , Roosenboom Peter , Wang Teng
Published: October 2013

We investigate whether and how government interventions in the U.S. banking sector influence the stock market performance of corporate borrowers during the financial crisis of 2007–2009. We measure firms’ exposures to government interventions with an intervention score that is based on combined information on the firms’ structure of bank relationships and their banks’ participation in government capital support programs. We find that government capital infusions in banks have a significantly positive impact on borrowing firms’ stock returns. The effect is more pronounced for riskier and bank-dependent firms and for those that borrow from banks that are less capitalized and smaller.
Deep sponge communities of the Gulf of St Eufemia (Calabria, southern Tyrrhenian Sea), with description of two new species
Authors: Bertolino M. , Bo M. , Canese S. , Bavestrello G. , Pansini M.
Published: October 2013

Recently, the rich coral communities of the so called roche du large biocoenose of the Gulf of St Eufemia (southern Tyrrhenian Sea) between 90 and 130 m deep, have been described thanks to remotely operated vehicle (ROV) imaging. This preliminary survey evidenced the massive presence of a well-diversified sponge community living among the coral colonies. This work aims at giving an ecological overview of some of the dominant species of this environment, together with a taxonomic part including the description of new species: Topsentia calabrisellae sp. nov. and Haliclona (Soestella) fimbriata sp. nov. The silted, rocky outcrops of the Gulf of St Eufemia facilitate the settling mainly of massive sponges with erect habit which may also avoid sedimentation by growing on the coral colonies. On the other hand, the site Capo Vaticano, located at the southern boundary of the gulf, characterized by rocky boulders exposed to strong currents and completely devoid of corals, is inhabited by a poor megabenthic community, dominated by patches of massive sponges, such as Topsentia vaceleti, a species of recent description whose aspect in the field was still unknown. In the entire investigated area 19 species have been photographed (often for the first time in vivo), collected and identified, but the real sponge diversity is certainly under-estimated due to the difficulty of collecting all the sighted specimens through the ROV grabber. Similarly to the coral component, sponges also respond to the same environmental constraints by growing in heterogeneous patches or by showing different morphologies mainly associated with current and sedimentation conditions.
Four new species ofDesmodora(Nematoda) from the deep south-east Atlantic, and a case of intersexuality in Desmodoridae
Authors: Moura Juliana da Rocha , da Silva Maria Cristina , Esteves André Morgado
Published: October 2013

Four new species of the genusDesmodoraare described from the South Atlantic off the south-eastern coast of the State of Rio de Janeiro, Brazil.Desmodora porosumsp. nov. is characterized by sexual dimorphism in the shape of the amphids, which are closed loop-shaped in males, and multispiral amphids in females. A case of intersexuality was found in the species, with a functional female gonad.Desmodora profundumsp. nov. is characterized by filiform spicules with a capitulum, buccal cavity with one dorsal and one small ventral tooth, tail cylindrical with a terminal spinneret, and wider rings in the neck region than on the rest of the body.Desmodora veronicaesp. nov. possesses cryptospiral amphids, a buccal cavity with one dorsal tooth and two smaller ventral teeth, 14 tubular pre-cloacal supplements, two ventral cuticular protruberances on the tail, and curved spicules with a capitulum and velum.Desmodora curvatumsp. nov. has the cuticle finely striated, without somatic setae, multispiral amphids, and a gubernaculum without apophysis, curved dorsally with the tip directed toward the end of the body.
Modelling nesting site suitability in a population of reintroduced Eurasian black vultures Aegypius monachus in the Grands Causses, France
Authors: Mihoub Jean-Baptiste , Jiguet Frédéric , Lécuyer Philippe , Eliotout Bertrand , Sarrazin François
Published: October 2013

Defining habitat selection features and predicting the distribution of species are important for conservation management, and habitat suitability models can provide the statistical framework linking environmental variables to occurrence locations. However, the reliability of such models is restricted for datasets that have limited presence data, which is problematic when population size is low and population dynamics are transient, such as in reintroductions. We characterized and projected nest-site suitability for a black vulture Aegypius monachus population reintroduced in the Grands Causses, France. We performed temporal validations with subsample datasets based on chronological establishment, to assess whether first nests are able to predict subsequent nests. We compared these results to a spatial validation to ensure robustness. Predictions were reliable even with only 10 nest locations. The black vultures reintroduced in the Grands Causses selected pine trees and steep slopes, similar to natural populations elsewhere in Europe. Although our projections were made from only a small number of founders, they are conservative and indicate that a large area in this region is available for nesting and thus availability of breeding habitat is not currently a limiting factor for the species. Our findings will aid the modelling of habitat suitability for further reintroductions. We propose conservation management strategies for this region that integrate socio-economic constraints with the prediction of sites suitable for nesting. Where habitat is the most suitable for black vultures, logging and human activities need to be reduced during the critical breeding stages.
How and Why I Write History of Science
Authors: Fisch Menachem
Published: October 2013

I have always been a philosopher at heart. I write history of science and history of its philosophy primarily as a philosopher wary of his abstractions and broad conceptualizations. But that has not always been the case. Lakatos famously portrayed history of science as the testing ground for theories of scientific rationality. But he did so along the crudest Hegelian lines that did injury both to Hegel and to the history and methodology of science. Since science is ultimately rational, he argued, rival methodologies can prove their mettle by competing for whose tendentiously reconstructed account of the history of science renders more of it rational! (Lakatos 1971). My own approach to the relationship between history and philosophy of science started out perhaps a little more open-mindedly than Lakatos's, but in a manner no less crude. Over the years the relationship between the history I wrote and the philosophy to which I was committed took on a firmer and more reciprocal shape. It did so in the course of a process that I now realize exemplified the philosophical position it eventually yielded. I would like to trace that development in the following pages and reflect as best I can on where it has led and left me.
The History of Ancient Science: A Personal View
Authors: Lloyd Geoffrey
Published: October 2013

My subject is the history of science in antiquity, where the convention I adopt for “antiquity” is that it covers everything from the earliest recorded Mesopotamian investigations in the third millennium BCE down to the end of the third century CE, by which time two particularly significant upheavals had taken place at either end of the Euro-Asia land mass. I refer to the Christianization of the Greco-Roman World and the rise of Buddhism in China. That study poses a number of distinctive problems, both substantive and methodological, which I shall go on immediately to identify. At the same time it is particularly worthwhile, in my view, for the light it can throw on very early efforts at understanding the physical world. Let me give a brief preliminary explanation of my main thesis.
Why and How Do I Write the History of Science?
Authors: Smith Roger
Published: October 2013

I make a large claim for the intellectual and institutional centrality of the history of science as critical reason. The reality on the ground, of course, does not always exhibit this. I trace the vicissitudes of my own way of thought in relation to developments in the field, leading to an interest, first, in relating intellectual history (with its philosophical orientation) to mainstream (evidence based) history, and second, to finding a place for the human sciences in the history of science. The latter area, which involves questioning the nature of science as knowledge, leads to an engagement with notions of being human. It is an interest which potentially makes the history of science a boundless field, and it is necessary to comment on the questions, both intellectual and practical, that this raises. I welcome a notion of the history of science as a family of activities, and I relate this to practices which seek models of good history rather than explicit methods.
Why and How: Reflections in an Autobiographical Key
Authors: Kevles Daniel J.
Published: October 2013

My first book, The Physicists, was conceived when I. I. Rabi visited Princeton in 1961–1962 as a Shreve Fellow in the History Department (see Kevles 1995). Some two years earlier C. P. Snow had published his influential provocation, The Two Cultures and the Scientific Revolution, and the academic world was abuzz with initiatives aimed at achieving better literacy in science among liberal arts majors. Rabi was a Nobel laureate in physics at Columbia University and his visit was one of Princeton's efforts to this end. It had been arranged by my mentor, Eric F. Goldman, a historian of modern America who had gotten to know Rabi through their mutual engagement with current issues in American democracy.
My Road to History of Science
Authors: Rheinberger Hans-Jörg
Published: October 2013

Had anybody told me at the beginning of my university studies that I would end up as a historian of science, I would not only have shaken my head in disbelief, I would in all probability not even have understood the prophecy. When I left high school, my interests ranged from literary writing to the life sciences. After an initial attempt to study biochemistry, which I aborted after a year, my early university education was in philosophy, with an emphasis on continental philosophy, from Descartes to Spinoza, from Kant to Hegel, from Nietzsche to Heidegger, pretty much the curriculum that would dominate the vast majority of the philosophical institutes in German universities in the mid-1960s. Having moved from Tübingen to Berlin, in addition I absorbed early on, as part of a group of students around Jacob Taubes, what came to be subsumed under the label of structuralism and post-structuralism: linguistics and semiotics from the Prague School through Noam Chomsky to Julien Greimas, grammatology from Ignace Gelb to Jacques Derrida, historical epistemology in its latest, Canguilhemian and Foucauldian versions, literary theory as practiced by Roland Barthes, to mention just a few names that formed the horizon of our student reading circles.
Counting and generating lambda terms
Authors: GRYGIEL KATARZYNA , LESCANNE PIERRE
Published: October 2013

Lambda calculus is the basis of functional programming and higher order proof assistants. However, little is known about combinatorial properties of lambda terms, in particular, about their asymptotic distribution and random generation. This paper tries to answer questions like: How many terms of a given size are there? What is a ‘typical’ structure of a simply typable term? Despite their ostensible simplicity, these questions still remain unanswered, whereas solutions to such problems are essential for testing compilers and optimizing programs whose expected efficiency depends on the size of terms. Our approach toward the aforementioned problems may be later extended to any language with bound variables, i.e., with scopes and declarations. This paper presents two complementary approaches: one, theoretical, uses complex analysis and generating functions, the other, experimental, is based on a generator of lambda terms. Thanks to de Bruijn indices (de Bruijn, N. (1972) Lambda calculus notation with nameless dummies, a tool for automatic formula manipulation, with application to the Church-Rosser theorem. Indagat. Math.34(5), 381–392), we provide three families of formulas for the number of closed lambda terms of a given size and we give four relations between these numbers which have interesting combinatorial interpretations. As a by-product of the counting formulas, we design an algorithm for generating λ-terms. Performed tests provide us with experimental data, like the average depth of bound variables and the average number of head lambdas. We also create random generators for various sorts of terms. Thereafter, we conduct experiments that answer questions like: What is the ratio of simply typable terms among all terms? (Very small!) How are simply typable lambda terms distributed among all lambda terms? (A typable term almost always starts with an abstraction.) In this paper, abstractions and applications have size 1 and variables have size 0.
The History and Future of Bioethics: A Sociological View, by John Evans. New York: Oxford University Press; 2012. 199 pp.
Authors: BISHOP JEFFREY P. , HINE AMANDA
Published: October 2013

Readers are invited to contact Greg S. Loeben at globen@yahoo.com regarding books they would like to see reviewed or books they are interested in reviewing.
Voter Demands, Access to Resources, and Party Switching: Evidence from the South Korean National Assembly, 1988–2008
Authors: SHIN JAE HYEOK
Published: October 2013

This paper investigates why some legislators tend to switch parties frequently – which is believed to undermine effective representation of citizen interests in democracies – while others tend to stay put. On the assumption that the ultimate goal of legislators is to be reelected, I argue that voters' demands for local/individual benefits, or pork, and legislators' lack of access to resources for such benefits are likely to lead the legislators to switch parties in order to improve their electoral chances in the subsequent election. By analyzing party switches by legislators from 1988 to 2008 in South Korea, where the president controls access to the pork pipeline, I find that the president's party members are less likely and independents are more likely to change party affiliations, irrespective of voter demands for pork or national public policies. However, I also find that opposition party legislators who are elected from less-developed districts, where voters tend to desire pork over policy, are more likely to switch parties than those elected from more-developed districts. These findings suggest that interaction between voter demands and party access to resources influences politicians’ party loyalty: voter demands for pork (or policy) tend to lead politicians to be less (or more) loyal to their current parties. Voter demands, however, have little impact on the party loyalty of those who are already in parties with access to the pork pipeline.
Secular Dealignment and Party System Transition in Malaysia
Authors: MOTEN ABDUL RASHID
Published: October 2013

The Malaysian electoral behaviour has for some time reflected the ‘partisan identification’ thesis. Since 1999, however, there has been a marked shift towards ‘secular dealignment’. Analyses of electoral and survey data reveal that although a significant number of Malaysian voters remained attached to the party they identified with, most of the electorate, however, are swayed by short-term factors. Though the economic issues played a role in the three elections, it is the leadership of the parties supplemented by the use of mass media that played a significant role in swinging the vote from one party to the other. The three elections in 1999, 2004, and 2008 can be categorized as evidence of secular dealignment: the 1999 elections substantially reduced the margin of gain by the ruling coalition; the 2004 elections reversed the opposition gain, while the 2008 elections resulted in the loss of two-thirds majority seats in the parliament habitually enjoyed by the ruling coalition and the emergence of a strong opposition coalition. This trend not merely continued but was much more stronger in the 13th Malaysian general election.
Scale Matters: Addressing the Limited Robustness of Findings on Negative Advertising
Authors: SAPIR ELIYAHU V. , SULLIVAN JONATHAN , VEEN TIM
Published: October 2013

Negative campaign advertising is a major component of the electoral landscape, and has received much attention in the literature. In many studies, political scientists have tried to explain why some campaign ads contain more negative messages than others and to identify the determinants of this form of campaign behavior. In recent years, a number of studies have acknowledged the differences between alternative measures of negativity, but, in most cases, it is assumed that since these measures are highly correlated, they are unidimensional and essentially interchangeable. In this article, we argue that much of the debate in the literature over negative campaigning is a result of inadequate operationalizations of negativity. Although debates over negativity have often been framed in conceptual terms, there is a methodological explanation for why they persist We begin our analysis by constructing reliable scales of negativity, and model them with salient predictors reported in the literature as significantly associated with campaign attacks. Our findings show that scaling does matter, and while some of the explanatory variables are robust predictors of negativity, most of them are not.
Virulence as a model for interplanetary and interstellar colonization – parasitism or mutualism?
Authors: Starling Jonathan , Forgan Duncan H.
Published: October 2013

In the light of current scientific assessments of human-induced climate change, we investigate an experimental model to inform how resource-use strategies may influence interplanetary and interstellar colonization by intelligent civilizations. In doing so, we seek to provide an additional aspect for refining the famed Fermi Paradox. The model described is necessarily simplistic, and the intent is to simply obtain some general insights to inform and inspire additional models. We model the relationship between an intelligent civilization and its host planet as symbiotic, where the relationship between the symbiont and the host species (the civilization and the planet's ecology, respectively) determines the fitness and ultimate survival of both organisms. We perform a series of Monte Carlo Realization simulations, where civilizations pursue a variety of different relationships/strategies with their host planet, from mutualism to parasitism, and can consequently ‘infect’ other planets/hosts. We find that parasitic civilizations are generally less effective at survival than mutualist civilizations, provided that interstellar colonization is inefficient (the maximum velocity of colonization/infection is low). However, as the colonization velocity is increased, the strategy of parasitism becomes more successful, until they dominate the ‘population’. This is in accordance with predictions based on island biogeography andr/Kselection theory. While heavily assumption dependent, we contend that this provides a fertile approach for further application of insights from theoretical ecology for extraterrestrial colonization – while also potentially offering insights for understanding the human–Earth relationship and the potential for extraterrestrial human colonization.
AXIOMS FOR GROUNDED TRUTH
Authors: SCHINDLER THOMAS
Published: October 2013

We axiomatize Leitgeb’s (2005) theory of truth and show that this theory proves all arithmetical sentences of the system of ramified analysis up to ε0. We also give alternative axiomatizations of Kripke’s (1975) theory of truth (Strong Kleene and supervaluational version) and show that they are at least as strong as the Kripke-Feferman system KF and Cantini’s VF, respectively.
Genetische Untersuchungen während der Schwangerschaft und beim Kind
Authors: Bartholdi Deborah , Miny Peter
Published: October 2013

Neue Schlüsseltechnologien führen gegenwärtig zu einem grundlegenden Wandel im klinischen Einsatz genetischer Labordiagnostik. In der Pränataldiagnostik hat die nicht invasive Abklärung von Aneuploidien im mütterliche Blut Fuß gefasst (NIPT) und dieser Ansatz wird in Zukunft auch bei anderen Chromosomenstörungen und Fragestellungen (monogene Erkrankungen) zum Einsatz kommen. Im postnatalen Bereich hat die Microarray Analyse (Array-CGH, molekulare Karyotypisierung) die konventionelle Chromosomenanalyse bei der Abklärung von Kindern mit Fehlbildungen, einer nicht-syndromalen geistigen Behinderung oder Autismusspektrumstörung abgelöst. Die neuen Hochdurchsatzsequenziermethoden erlauben die effiziente Abklärung von genetisch sehr heterogenen Krankheitsbildern wie z. B. Epilepsien, neuromuskuläre Erkrankungen und Schwerhörigkeit, durch Diagnostik-Panels, bei welchen Dutzende von Genen parallel analysiert werden können. Der Einsatz der Exom oder whole genome Sequenzierung als wissenschaftliche Methode zur Identifizierung von neuen Krankheitsgenen wird auch in der Diagnostik von schweren ungeklärten Erkrankungen oder Entwicklungsstörungen, die genetisch extrem heterogen sind, zum Einsatz kommen. Die neuen Methoden werden die klinische Diagnostik in der Pädiatrie und anderen Bereichen der Medizin über kurz oder lang verändern, indem die genetische Labordiagnostik eher früher im Abklärungsprozess zur Anwendung kommen wird (genetics first).
Nachsorge des frühgeborenen Kindes
Authors: Pramana Isabelle A. , Neumann Roland P.
Published: October 2013

Die medizinische Versorgung frühgeborener Kinder hat sich in den vergangenen Jahrzehnten kontinuierlich verbessert und zu einer reduzierten Mortalität und Morbidität in dieser Population geführt. Dennoch sind die gesundheitlichen Folgen der Frühgeburt bei einigen dieser Kinder erheblich und stellen eine Herausforderung für das Gesundheitssystem dar. Als typische Komplikationen der Frühgeburtlichkeit sind die Bronchopulmonale Dysplasie, Wachstumsstörungen, psychomotorische Retardierung und neurologische Defizite zu nennen. Respiratorische Probleme und damit assoziierte Rehospitalisationen treten bei ehemaligen Frühgeborenen insbesondere in den ersten Lebensjahren gehäuft auf. Eine Betreuung dieser Kinder setzt eine genaue Kenntnis der Krankengeschichte voraus und umfasst unter anderem eine regelmäßige Kontrolle von Wachstum und neurokognitiver Entwicklung einschließlich des Sehens und Hörens. Für frühgeborene Kinder gibt es spezielle Empfehlungen. Bei Auffälligkeiten in der psychomotorischen Entwicklung sollten zeitnah entsprechende Therapien implementiert werden.
Fieber ohne Fokus beim Kleinkind
Authors: Duppenthaler Andrea
Published: October 2013

Fieber ohne Fokus ist beim febrilen Kleinkind (1 – 36 Monate alt) eine häufige klinische Situation. Aus dieser Gruppe dasjenige Kind zu identifizieren, das eine bakterielle Infektion als Ursache hat und eine entsprechende Abklärung und Therapie braucht, ist anspruchsvoll. Die Einführung der Impfung für Säuglinge gegen Pneumokokken und Meningokokken Gruppe C hat in den letzten Jahren zu relevanten Veränderungen der Epidemiologie geführt, das Risiko einer invasiven Infektion hat deutlich abgenommen. Die häufigste bakterielle Infektion ist bei einem immunisierten Kind die Harnwegsinfektion. Die Wertigkeit von zusätzlichen Laboruntersuchungen, die unter anderem beeinflusst wird durch die Vortestwahrscheinlichkeit, ist neu zu beurteilen. Unter den nun gegebenen Umständen können Anpassungen und damit eine Vereinfachung im Management dieser Kinder vorgenommen werden. Diese Punkte sollen unter anderem im folgenden Artikel ausführlicher besprochen werden.
Behandlung von übergewichtigen Kindern und Jugendlichen mit ihren Familien in der Grundversorgung – Möglichkeiten und Grenzen
Authors: l'Allemand Dagmar , Laimbacher Josef
Published: October 2013

Der Haus- oder Kinderarzt als erste Anlaufstelle kann das Übergewicht rechtzeitig erkennen, und bei Adipositas oder Komorbiditäten eine Therapie durchführen, bzw. Präventionsmaßnahmen einleiten. Übergewichts-Interventionen sind vor dem 7. Lebensjahr am effizientesten hinsichtlich kurz- und langfristiger Resultate. Da die Adipositas eine Betreuung der gesamten Familie erfordert, sind enger bzw. wiederkehrender Kontakt mit Kindern und Familie sowie die Wohnortnähe der Behandlung wichtig. Das Ändern von liebgewonnenen Gewohnheiten und des Erziehungsstils stellt die größte Herausforderung an die Eltern. Daher können Techniken der Alkohol- und Tabak-Sucht-Behandlung genutzt werden und Empfehlungen zur Verbesserung des Selbstwertes, der Bewegung sowie des Essverhaltens angeführt werden. Machbare Ziele umfassen zunächst kleine Lebensstiländerungen und Reduktion von Komorbiditäten, wenn eine extreme Adipositas mit BMI über der 99.5 Perzentile oder psychische Störungen bestehen, oder sich innert der ersten 6 Monate abzeichnet, dass die eigenen Ziele nicht erreicht werden können, ist die Weiterleitung an ein spezialisiertes Zentrum zur multiprofessionellen Behandlung indiziert, in der Spezialisten für Ernährung, Bewegung und Psychologie gemeinsam die Therapie des Kindes mit seiner Familie übernehmen. Die Adipositas ist bereits in der Kindheit eine chronische Erkrankung, die eine sehr langfristige Behandlung benötigt und meist bis ins Erwachsenalter andauert.
Hautkrebs in der Hausarztpraxis: Häufigkeit, Fortbildungsbedarf und subjektive Diagnosesicherheit. Eine Umfrage unter Zürcher Hausärzten
Authors: Badertscher Nina , Senn Oliver , Rossi Pascal O. , Wensing Michel , Rosemann Thomas , Tandjung Ryan
Published: October 2013

Einleitung: Die Inzidenz maligner Hautveränderungen steigt in der Schweiz kontinuierlich. Ziel unserer Umfrage war es, zu ermitteln, wie häufig Hausärzte Patienten mit malignomverdächtigen Hautveränderungen sehen, wie sicher sie in der Diagnose sind und ob Fortbildungsbedarf zum Thema Hautkrebs besteht. Material/Methoden: Umfrage bei 1212 Hausärzten im Kanton Zürich. Deskriptive Auswertung, Untersuchung von Einflussfaktoren auf den Fortbildungsbedarf mittels Regressionsanalysen. Resultate: 41,4% Rücklauf. 23,2% aller Hausärzte sahen täglich/wöchentlich Patienten mit malignomverdächtigen Hautläsionen, weitere 34,8% sahen monatlich entsprechende Patienten. 79,0% der Hausärzte gaben Fortbildungsbedarf an, dieser war geringer bei städtischen Hausärzten und bei hoher subjektiver Diagnosesicherheit. Schlussfolgerung: Zürcher Hausärzte wurden relativ häufig mit malignomverdächtigen Hautveränderungen ihrer Patienten konfrontiert. Zudem bestand trotz relativ hoher subjektiver Diagnosesicherheit ein deutlicher Fortbildungsbedarf zum Thema Hautkrebs.
Neues aus der Knie-Endoprothetik
Authors: Dao Trong Mai Lan , Helmy Näder
Published: October 2013

Die Gonarthrose ist ein häufiges orthopädisches Problem und stellt gegenwärtig operativ immer noch eine Herausforderung dar. In dieser Mini-Review stellen wir die Technik patientenspezifischer Schnittblöcke zur Implantation einer Knie-Totalprothese vor.
Heiserkeit nach USA-Reise
Authors: Nobile Aleksandra , Schüpbach Reto A. , Flepp Markus , Maggiorini Marco , Günthard Huldrych , Zinkernagel Annelies S.
Published: October 2013

Wir berichten über einen 52-jährigen Schweizer mit Halsschmerzen und progredienter Heiserkeit. Histologisch fand sich eine granulomatöse Entzündung der Epiglottis. Mikrobiologisch erfolgte der Nachweis von dimorphen Pilzen im Sputum, die als Histoplasma sp. identifiziert wurden. Das Histoplasma-Antigen war positiv im Urin und Serum. Unter der Therapie mit Itroconazol zeigte sich eine weitere Verschlechterung der Klinik, weshalb die antimykotische Therapie auf Amphotericin B umgestellt wurde. An die Nebenniereninsuffizienz muss gedacht werden, da diese durch die Histoplasmose per se aber auch durch die Itraconazol-Therapie verursacht werden kann. Als alternative Therapie der disseminierten Histoplasmose kommt eine Therapie mit Voriconazol infrage. Die Erhebung einer Reiseanamnese ist wichtig.
Time required to injection-lock spin torque nanoscale oscillators
Authors: Rippard William , Pufall Matthew , Kos Anthony
Published: October 2013

We have injection-locked a spin-transfer oscillator to a second-harmonic electrical input signal and measured the relative phase and amplitude of the device output as a function of DC current under steady-state conditions. The relative phase of the device varies quasi-linearly with DC bias, although the averaged amplitude decreases significantly outside of the spectrally determined locking range. By pulsing the injected microwaves, the time required for the device to phase-lock to the injected signal was measured as a function of microwave amplitude. The locking time varied quasi-linearly over the range of amplitudes studied, with the shortest locking times being a few nanoseconds.
Perpendicular currents and electric fields in fully and partially ionized magnetized plasma
Authors: Rozhansky V.
Published: October 2013

Perpendicular currents and self-consistent electric fields in fully and partially ionized plasma in strong magnetic field are analyzed. In fully ionized plasma, the analyses are concentrated on closing of viscosity driven currents. For partially ionized plasma, it is demonstrated that the perpendicular currents could be expressed through the total pressure gradient (including the pressure gradient of neutral particles) and viscosity of neutrals. The self-consistent electric fields and corresponding E→×B→ could be quite large, which is important for various applications, in particular, for the divertor plasma of a tokamak in the detached regime.
Extracted H− ion current enhancement due to caesium seeding at different plasma grid bias
Authors: Bacal Marthe , McAdams Roy , Surrey Elizabeth
Published: October 2013

This paper discusses the possibility that there is an enhancement of volume production due to gettering of atomic hydrogen by the caesium deposited on the walls, which reduces the negative ion destruction by associative and non-associative detachment. Such an enhancement would take place for all plasma grid bias voltages. Furthermore at plasma grid bias voltages higher than the plasma potential there is flow of the negative ions from the bulk plasma.
Modeling and simulation of the chemo-electro-mechanical behavior of ionic polymer-metal composites
Authors: Schicker Dominik , Wallmersperger Thomas
Published: October 2013

Ionic polymer-metal composites (IPMCs) consist of a thin ionomer plated with metal electrodes. IPMCs exhibit large bending deformations when a small voltage is applied between its electrodes. This bending process is the result of variations in the cation and solvent distribution inside the IPMC. The bending behavior differs for different types of IPMCs, and so a numerical prediction of the behavior needs to be formulated based on various physical phenomena. The bending for several IMPCs can consist of two phases: (1) a fast bending towards the anode and (2) a slow reverse bending. As the physical reasons for reverse bending, i.e., back relaxation of Nafion-based IPMCs is not completely understood, a comprehensive physics-based model of the bending process is still a demanding task. In this paper a numerical model describing the actuation behavior of an IPMC is formulated based on a multi-field approach considering chemical, electrical, and mechanical field equations. This model is based on the cluster model developed by Nemat-Nasser and Li [J. Appl. Phys. 87(7), 3321–3331 (2000)] and Nemat-Nasser [J. Appl. Phys. 92(5), 2899–2915 (2002)] and the chemo-electro-mechanical model given by Wallmersperger et al. [Mech. Mater. 36(5-6), 411–412 (2004); J. Appl. Phys. 101, 024912 (2007)]. The cluster model is a model being able to describe the bending behavior of different IPMCs with and without back relaxation. In the present research the chemical, electrical, and mechanical field equations are discretized using finite differences and solved by a full coupling using the Newton-Raphson technique. By this nonlinear process a detailed representation of the cation and solvent distribution as well as the resulting forces inside the IPMCs are obtained in space and time. Finally a comparison with experimental data published by Nemat-Nasser and Wu [J. Appl. Phys. 93(9), 5255–5267 (2003)] is given for a Nafion-based IPMC with distinctive back relaxation.
Basis of the discharge maintenance in a matrix source of negative hydrogen ions
Authors: Demerdzhiev A. , Tarnev Kh. , Lishev St. , Shivarova A.
Published: October 2013

The presented three-dimensional (3D) self-consistent model of a matrix source completed by small-radius planar-coil driven rf discharges in hydrogen is in the scope of the recent research on a new design of the rf sources of negative hydrogen ions for fusion applications. The analysis of the results for the spatial distribution of basic discharge characteristics (electron density and temperature, rf current density and rf field intensity) in the three configurations of the matrix considered aims at conclusions about a manner of rf inductive-mode driving proper for ensuring the same discharge behavior in the gas-discharge tubes of the matrix.
Non-perturbative treatment of molecules in linear magnetic fields: Calculation of anapole susceptibilities
Authors: Tellgren Erik I. , Fliegl Heike
Published: October 2013

In the present study a non-perturbative approach to ab initio calculations of molecules in strong, linearly varying, magnetic fields is developed. The use of London atomic orbitals (LAOs) for non-uniform magnetic fields is discussed and the standard rationale of gauge-origin invariance is generalized to invariance under arbitrary constant shifts of the magnetic vector potential. Our approach is applied to study magnetically induced anapole moments (or toroidal moments) and the related anapole susceptibilities for a test set of chiral and nonchiral molecules. For the first time numerical anapole moments are accessible on an ab initio level of theory. Our results show that the use of London atomic orbitals dramatically improves the basis set convergence also for magnetic properties related to non-uniform magnetic fields, at the cost that the Hellmann–Feynman theorem does not apply for a finite LAO basis set. It is shown that the mixed anapole susceptibility can be related to chirality, since its trace vanishes for an achiral molecule.
Negative ion extraction by particle model
Authors: Taccogna F. , Minelli P.
Published: October 2013

More self-consistent injection boundary conditions from the source region have been used in the extraction region model to examine the negative ion formation and transport. Bulk kinetic, plasma-surface, and gas-surface processes have been all included. This work represents a first example of coupling between different models, and it shows the important role of positive ion conversion on plasma grid for the extracted negative ion current.
A pressure-driven flow analysis of gas trapping behavior in nanocomposite thermite films
Authors: Sullivan K. T. , Bastea S. , Kuntz J. D. , Gash A. E.
Published: October 2013

This article is in direct response to a recently published article entitled Electrophoretic deposition and mechanistic studies of nano-Al/CuO thermites (K. T. Sullivan et al., J. Appl. Phys., 112(2), 2012), in which we introduced a non-dimensional parameter as the ratio of gas production to gas escape within a thin porous thermite film. In our original analysis, we had treated the problem as Fickian diffusion of gases through the porous network. However, we believe a more physical representation of the problem is to treat this as pressure-driven flow of gases in a porous medium. We offer a new derivation of the non-dimensional parameter which calculates gas velocity using the well-known Poiseuille's Law for pressure-driven flow in a pipe. This updated analysis incorporates the porosity, gas viscosity, and pressure gradient into the equation.
Correlation between structure and photoluminescence properties in InGaN epilayers with thicknesses below and above critical thickness
Authors: Dobrovolskas D. , Vaitkevičius A. , Mickevičius J. , Tuna Ö. , Giesen C. , Heuken M. , Tamulaitis G.
Published: October 2013

The layer strain and its relaxation effects on the photoluminescence (PL) of InGaN layers are studied using confocal microscopy. The relaxation imposed structural changes are studied by X-ray diffraction (XRD) reciprocal space mapping and atomic force microscopy. Initial layer relaxation generated misfit dislocations were observed by confocal microscopy as intersecting parallel lines of lower PL intensity. The splitting of the PL spectrum into several PL bands indicated an onset of changes in the layer structure, which were confirmed by XRD measurements. The PL bands were attributed to two sub-layers of the sample: A relaxed upper sub-layer and a strained sub-layer underneath. Bright spots, approximately 250 nm in diameter, were observed on the background of the inhomogeneous PL intensity distribution due to fluctuations of In content. The bright spots correspond to column-like structures with relaxed lattice, In content as in the initial strained layer, and lower density of nonradiative recombination centers than that in the surrounding background.
Soft-coupling suspension system for an intradural spinal cord stimulator: Biophysical performance characteristics
Authors: Oya H. , Safayi S. , Jeffery N. D. , Viljoen S. , Reddy C. G. , Dalm B. D. , Kanwal J. K. , Gillies G. T. , Howard M. A.
Published: October 2013

We have characterized the mechanical compliance of an improved version of the suspension system used to position the electrode-bearing membrane of an intradural neuromodulator on the dorsal pial surface of the spinal cord. Over the compression span of 5 mm, it exhibited a restoring force of 2.4 μN μm−1 and a mean pressure of 0.5 mm Hg (=66 Pa) on the surface below it, well within the range of normal intrathecal pressures. We have implanted prototype devices employing this suspension and a novel device fixation technique in a chronic ovine model of spinal cord stimulation and found that it maintains stable contact at the electrode-pia interface without lead fracture, as determined by measurement of the inter-contact impedances.