bluuebunny/crossref_metadata_2025_split huggingface dataset:
Diagnosis and New Treatment Avenues in Spinal Muscular Atrophy
Authors: Kirschner Janbernd , Pechmann Astrid 
Published: June 2017

AbstractSpinal muscular atrophy (SMA) is an autosomal-recessive, neuromuscular disorder that is characterized by degeneration of the anterior horn cells of the spinal cord, resulting in muscle atrophy and proximal muscle weakness. SMA is caused by a homozygous deletion in the survival motor neuron 1 (SMN1) gene on chromosome 5q13. The SMN gene region also comprises a centromeric copy containing the SMN2 gene. The severity of the disease correlates with age of onset and SMN2 copy number and varies from a severe muscle weakness with tetraplegia in infants to a mild proximal muscle weakness in ambulant children. Due to lack of a curative treatment, the care of children with SMA consists mostly of a multidisciplinary treatment including respiratory, nutritional, and orthopaedic management. During the past years, there has been a promising approach for the development of drugs intervening the pathophysiology of SMA with the main idea of upregulating the levels of functional SMN protein. Here, we summarize recent studies regarding diagnosis and treatment avenues in SMA.
Metabolic effects of risk alleles inPNPLA3, TM6SF2, GCKRandLYPLAL1inform about heterogeneity of non-alcoholic fatty liver disease
Authors: Sliz Eeva , Sebert Sylvain , Würtz Peter , Kangas Antti J , Soininen Pasi , Lehtimäki Terho , Kähönen Mika , Viikari Jorma , Männikkö Minna , Ala-Korpela Mika , Raitakari Olli T , Kettunen Johannes 
Published: June 2017

AbstractFatty liver has been associated with unfavourable metabolic changes in circulation and is considered as a risk factor for cardiometabolic complications such as type 2 diabetes and cardiovascular disease. We aimed to provide insights in fatty liver related metabolic deviations by studying the resemblance between the metabolic profile associated with fatty liver observationally and metabolic profiles of non-alcoholic fatty liver disease (NAFLD) risk increasing genotypes. We determined cross-sectional associations of ultrasound-ascertained fatty liver status with 123 metabolic traits in 1,810 individuals aged 34-49 years from The Cardiovascular Risk in Young Finns Study. The cross-sectional associations were compared with the association profiles of NAFLD risk alleles inPNPLA3,TM6SF2,GCKR, andLYPLAL1with the corresponding metabolic traits obtained from a publicly available genome-wide association study including up to 24,925 European individuals. The analysis revealed substantially different metabolic effects of the risk alleles.PNPLA3rs738409-G, the strongest genetic risk factor to NAFLD, did not associate with metabolic changes.GCKRrs1260326-T resulted in an association profile similar to the observational fatty liver associations. Metabolic effects ofLYPLAL1rs12137855-C were similar, but statistically less robust, to the effects ofGCKRrs1260326-T. In contrast, NAFLD risk alleleTM6SF2rs58542926-T displayed opposite metabolic associations when compared with the observational association pattern.ConclusionThe divergent effects of the risk alleles on circulating lipids and metabolites underline involvement of several metabolic pathways in NAFLD and suggest that there are pathogenically different subtypes of NAFLD with alternate metabolic consequences. NAFLD risk alleles may have neutral or even cardioprotective effect on circulating lipids and metabolites providing evidence that hepatic lipid accumulation by itself would not necessarily cause the metabolic deviations associated observationally with fatty liver.
Coupling of tactile LFP signals between mouse cortex and olfactory bulb
Authors: Parabucki Ana , Lampl Ilan 
Published: June 2017

SummaryLocal field potentials are an important measure of brain activity and have been used to address various mechanistic and behavioral questions. We revealed a prominent whisker evoked local field potential signal in the olfactory bulb and investigated its physiology. This signal, dependent on barrel cortex activation and highly correlated with its local activity, represented a pure volume conductance signal that was sourced back to the activity in the ventro-lateral orbitofrontal cortex, located a few millimeters away. Thus, we suggest that special care should be taken when acquiring and interpreting LFP data.
Human PRDM9 can bind and activate promoters, and other zinc-finger proteins associate with reduced recombination incis
Authors: Altemose Nicolas , Noor Nudrat , Bitoun Emmanuelle , Tumian Afidalina , Imbeault Michaël , Chapman J. Ross , Aricescu A. Radu , Myers Simon R. 
Published: June 2017

AbstractAcross mammals, PRDM9 binding localizes almost all meiotic recombination hotspots. However, most PRDM9 motif sequence matches are not bound, and most PRDM9-bound loci do not become hotspots. To explore factors that affect binding and subsequent recombination outcomes, we mapped human and chimp PRDM9 binding sites in a human cell line, and measured PRDM9-induced H3K4me3 and gene expression changes. These data revealed varied DNA-binding modalities of PRDM9, and histone modifications that predict binding. At sites where PRDM9 binds, specificcissequence motifs associated with TRIM28 recruitment, and histone modifications, predict whether recombination subsequently occurs. These results implicate the large family of KRAB-ZNF genes in consistent, localized meiotic recombination suppression. PRDM9 affects gene expression for a small number of genes includingCTCFLandVCX, by binding nearby. Finally, we show that PRDM9’s DNA-binding zinc finger domain strongly impacts the formation of multimers, with a pair of highly diverged alleles multimerizing less efficiently.
The weak solvability of the steady problem modelling the flow of a viscous incompressible heat-conductive fluid through the profile cascade
Authors: Neustupa Tomáš 
Published: June 2017

Purpose
The paper aims to theoretically study the mathematical model of a steady flow of a heat-conductive incompressible viscous fluid through a spatially periodic plane profile cascade.

Design/methodology/approach
Reduction of the infinite periodical problem to one period. Leray-Schauder fixed point principle was used.

Findings
This study proves the existence of a weak solution for arbitrarily large given data (i.e. the inflow velocity and the acting specific body force).

Practical implications
The author proposed a special boundary condition on the outflow of the domain not only for the velocity and pressure but also for the temperature.

Originality/value
To the author’s knowledge, the problem has not been studied earlier. More detailed overview is given in the paper in the first part.
Getting lost (and found) in supervision: an ethnodrama
Authors: French Amanda , Kendall Alex 
Published: June 2017

Purpose
This paper aims to offer an innovative approach to reflecting on research and practice around doctoral study and supervision. In the opening section of the paper, the authors discuss the idea that academic development as a doctoral candidate is concerned with how researchers write themselves into being as certain kinds of researchers, and how, in doing so, they become a character, like their supervisors, in the “figured world” of their research. This process of “becoming” can, the authors argue, be nurtured or hindered by different kinds of supervision practices.

Design/methodology/approach
With regard to the authors’ own experiences of doctoral supervision, the paper explores how their use of post-qualitative practices and methodologies encouraged new forms of intersubjectivity and academic development as their supervisory relationship advanced alongside the thesis itself.

Findings
The authors present the script of an ethnodrama (Saldana, 2111) which they wrote and performed on a number of occasions, as an alternative way of expressing their experiences of being in a relationship as doctoral supervisor and supervisor.

Research limitations/implications
This choice of ethnodrama emerged out of a frustration with what the authors felt were increasingly predictable ways of discussing and reflecting upon the philosophy, content and assessment methods of postgraduate research and supervision across the educational disciplines.

Originality/value
The authors hope that their exploration of the imaginative spaces created through doctoral supervision will encourage other postgraduates and their supervisors to experiment with working creatively across interdisciplinary spaces and creating radical and even risky ways of mediating and sharing postgraduate teaching and learning relationships.
Assessment and Prediction in Homelessness Services and Elsewhere
Authors: O'Flaherty Brendan 
Published: June 2017

AbstractThis article cautions against the naïve use of predictive techniques by homelessness service providers. Prediction is hard and may be impossible. Prediction does not automatically lead to socially optimal assignments. On the other hand, mechanism design, which does not rely on top‐down predictions, can be used to good effect. Moreover, fairness counts as well as optimality—and may be easier to achieve. I use examples from fire service, central banking, police patrol, tax auditing, art, finance, soup kitchens and cadaveric organ allocation.
Self‐reported Mental Health Issues Among Arrestees in the Paris, France Area
Authors: Vidal Camille , Lepresle Aude , Chariot Patrick 
Published: June 2017

AbstractWe studied (May–September 2014) all arrestees who reported mental health issues during the medical examination performed by a forensic physician for the assessment of fitness for detention. Among 4814 arrestees, 420 (9%) reported a current mental health issue. The suspected crimes among arrestees reporting a current mental health issue were more often related to violent behaviors (physical assault, 23% vs. 16%, p < 0.001, sexual assault, 3% vs. 1%, p = 0.01) and less often drug offenses (18% vs. 29%, p < 0.001). Among arrestees reporting mental health issues, 80% reported psychiatric or psychological care, of whom 33% reported previous mental health care. Decisions of unfitness for detention were more frequent among arrestees reporting mental health issues than in other detainees (3% vs. 1%, p < 0.001). The high proportion of patients with interrupted mental health care among those reporting mental disorders suggests that the medical examination during custody could be a significant opportunity to restore psychiatric care.
Relationships between the genes expressed in the mesenteric adipose tissue of beef cattle and feed intake and gain
Authors: Lindholm‐Perry A. K. , Cunningham H. C. , Kuehn L. A. , Vallet J. L. , Keele J. W. , Foote A. P. , Cammack K. M. , Freetly H. C. 
Published: June 2017

SummaryMesenteric fat, a depot within the visceral fat, accumulates in cattle during maturation and finishing and may be a potential source of production inefficiency. The aim of this study was to determine whether the genes expressed in the mesenteric fat of steers were associated with body weight gain and feed intake. Sixteen steers chosen by their rank of distance from the bivariate mean for gain and feed intake were used for this study. Mesenteric fat was obtained and evaluated for differences in gene expression. A total of 1831 genes were identified as differentially expressed among steers with variation in feed intake and gain. Many of these genes were involved with metabolic processes such as proteolysis, transcription and translation. In addition, the Gene Ontology annotations including transport and localization were both over‐represented among the differentially expressed genes. Pathway analysis was also performed on the differentially expressed genes. The superoxide radical degradation pathway was identified as over‐represented based on the differential expression of the genes GPX7, SOD2 and TYRP1, suggesting a potential role for oxidative stress or inflammatory pathways among low gain–high intake animals. GPX7 and SOD2 were in lower transcript abundance, and TYRP1 was higher in transcript abundance among the low gain–high feed intake animals. The retinoate biosynthesis pathway was also enriched due to the differential expression of the genes AKR1C3, ALDH8A1, RDH8, RDH13 and SDR9C7. These genes were all more highly expressed in the low gain–high intake animals. The glycerol degradation and granzyme A signaling pathways were both associated with gain. Three glycerol kinase genes and the GZMA gene were differentially expressed among high vs. low gain animals. Mesenteric fat is a metabolically active tissue, and in this study, genes involved in proteolysis, transcription, translation, transport immune function, glycerol degradation and oxidative stress were differentially expressed among beef steers with variation in body weight gain and feed intake.
Monitoring the Vascular Response and Resistance to Sunitinib in Renal Cell Carcinoma In Vivo with Susceptibility Contrast MRI
Authors: Robinson Simon P. , Boult Jessica K.R. , Vasudev Naveen S. , Reynolds Andrew R. 
Published: June 2017

Abstract
Antiangiogenic therapy is efficacious in metastatic renal cell carcinoma (mRCC). However, the ability of antiangiogenic drugs to delay tumor progression and extend survival is limited, due to either innate or acquired drug resistance. Furthermore, there are currently no validated biomarkers that predict which mRCC patients will benefit from antiangiogenic therapy. Here, we exploit susceptibility contrast MRI (SC-MRI) using intravascular ultrasmall superparamagnetic iron oxide particles to quantify and evaluate tumor fractional blood volume (fBV) as a noninvasive imaging biomarker of response to the antiangiogenic drug sunitinib. We also interrogate the vascular phenotype of RCC xenografts exhibiting acquired resistance to sunitinib. SC-MRI of 786-0 xenografts prior to and 2 weeks after daily treatment with 40 mg/kg sunitinib revealed a 71% (P &lt; 0.01) reduction in fBV in the absence of any change in tumor volume. This response was associated with significantly lower microvessel density (P &lt; 0.01) and lower uptake of the perfusion marker Hoechst 33342 (P &lt; 0.05). The average pretreatment tumor fBV was negatively correlated (R2 = 0.92, P &lt; 0.0001) with sunitinib-induced changes in tumor fBV across the cohort. SC-MRI also revealed suppressed fBV in tumors that acquired resistance to sunitinib. In conclusion, SC-MRI enabled monitoring of the antiangiogenic response of 786-0 RCC xenografts to sunitinib, which revealed that pretreatment tumor fBV was found to be a predictive biomarker of subsequent reduction in tumor blood volume in response to sunitinib, and acquired resistance to sunitinib was not associated with a parallel increase in tumor blood volume. Cancer Res; 77(15); 4127–34. ©2017 AACR.
O efeito do treinamento na percepção do desempenho individual: uma análise baseada nos treinamentos ofertados pelo Instituto Federal do Espírito Santo (IFES)
Authors: Galvao Katia Cristina Cabral Monteiro , Monte-mor Danilo Soares , Tardin Neyla 
Published: June 2017

Este artigo investiga se os treinamentos ofertados aos servidores públicos melhoram o seu desempenho no cumprimento de suas atribuições. Para tanto, optou-se por uma Instituição Pública de Ensino, cuja ampliação de suas unidades entre 2008 e 2010 resultou no aumento do quadro de pessoal e na criação da capacitação obrigatória para os novos servidores – Ambientação Institucional. A partir de um quase experimento, estimou-se o efeito do treinamento no desempenho individual dos servidores que participaram do treinamento, controlando-se por alterações no desempenho de servidores não treinados, e por outras características heterogêneas. Os resultados obtidos sugerem que o treinamento não tem impacto sobre o desempenho individual de servidores público, corroborando com a hipótese de que na ausência de mecanismo de incentivos, o treinamento não impacto desempenho.
Wounding the Gods
Authors: Stamatopoulou Zoe 
Published: June 2017

AbstractIn this article, I explore the figure of the mortaltheomachosin archaic Greek hexameter poetry. In particular, I examine how theIliadand the HesiodicAspisconstruct Diomedes and Heracles respectively in their capacity to fight and wound divine opponents. Through a careful study of these two figures, I argue that they are emblematic of the heroic generations they belong to.
Queer Fallout
Authors: Ensor Sarah 
Published: June 2017

Abstract
Taking as its provocation Leo Bersani’s fleeting turn to questions of ecology at the end of his 2002 essay “Sociability and Cruising,” this piece asks what it would mean to use the practice of cruising as an unexpected model for a new ecological ethic, one more deeply attuned to our impersonal intimacies with the human, nonhuman, and elemental strangers that constitute both our environment and ourselves. In order to develop such a model, the essay looks not only to Bersani’s work but also (and primarily) to Samuel R. Delany’s Times Square Red, Times Square Blue, whose attention to the positive fallout of spontaneous cross-class contact, I claim, complicates the proprietary, insular, and paranoid logics prevalent in much popular environmental discourse. Delany’s text, which decenters both intention and identity in its definition of the social, limns the contours of a queer environmentalism predicated less on intentional, direct(ed) investment than on ambient affects, impersonal futures, and nonteleological practices of care.
Licitações públicas sustentáveis: vinculação ou discricionariedade do administrador?
Authors: Mastrodi Josué , Brito Beatriz Duarte Correa de 
Published: June 2017

Neste trabalho buscamos analisar, a partir do ordenamento jurídico brasileiro vigente, a possibilidade de se realizarem licitações públicas sustentáveis em todos os níveis da administração pública. Para isso, foram sistematicamente examinadas a Constituição Federal, as Leis nº 8.666/1993 e nº 12.305/2010, bem como o contexto histórico da preocupação mundial com o chamado desenvolvimento sustentável. Assumindo que o princípio da sustentabilidade deve nortear as ações da administração pública, visto que se impõe ao poder público e à coletividade o dever de defender e preservar o meio ambiente ecologicamente equilibrado. A sustentabilidade ambiental deve ser elemento de qualificação de toda e qualquer proposta recebida pela administração em licitações públicas, de modo que a proposta mais vantajosa homologada pelos processos licitatórios somente seja aquela que respeitar as normas de preservação ambiental. In this paper we aim at analyzing, from the current Brazilian law, the possibility of conducting sustainable public bids at all levels of public administration. For this, were systematically examined the Federal Constitution, the Laws nº 8.666/1993 and nº 12.305/2010, as well as the historical context of the global preoccupation with the so-called sustainable development. Assuming that the principle of sustainability should guide the actions of the government, since it imposes upon the government and the society the duty to defend and preserve an ecologically balanced environment, environmental sustainability must be an element of qualification of any proposal received by the administration in public bids, so that the most advantageous proposal approved by the bidding process is only one that meets the standards for preserving the environment.
Do estado social ao estado de risco: a transformação do paradigma da segurança no estado constitucional de direito
Authors: Mauricio Junior Alceu 
Published: June 2017

Neste artigo, apresentamos um modelo teórico do estado constitucional de direito que procura fazer frente aos desafios epistemológicos levantados na sociedade de risco. Considerando a crise do modelo do estado social e as transformações provocadas pelos riscos ambientais, sanitários e tecnológicos, vivenciados em uma escala global na sociedade contemporânea, sugerimos que o estado constitucional de direito deve ser compreendido por meio do modelo teórico que denominamos estado de risco. Analisando a transformação do conceito de segurança no estado constitucional de direito, procuramos demonstrar que, mais do que a simples adição de novos fins constitucionais — como a proteção ao meio ambiente e ao consumidor — altera-se a própria fonte de legitimação do Estado. Consideramos que o estado de risco apresenta maior potencial descritivo e normativo do que o estado social, assim como é mais capaz de evidenciar novos desafios democráticos e institucionais levantados na sociedade de riscos. In this Article, we present a new theoretical model of the constitutional rule of law that aims to face the epistemological challenges raised in risk society. Considering the crisis of the social state model and the transformations provoked by environmental, sanitary and technological risks, experienced in a global scale n contemporary society, we suggest that the constitutional rule of law should be understood through the theoretical model we call risk state. Analyzing the transformation of the concept of security in Constitutional rule of law, we seek to demonstrate that, beyond the simple addition of new constitutional goals — such as environmental e consumer protection — the very source of legitimization of the State is changed. We consider that the risk state model has a higher descriptive and normative potential than the social state model, as well as is more capable to evidence democratic and institutional challenges raised in risk society.
The composite principles of harmonization of modern architecture in the historic environment
Authors: Тумасов Александр , Tumasov Aleksandr 
Published: June 2017

Including modern object in the certain spatial environment possessing a certain figurative and historical characteristic, the architect solves a complex problem of the valid and tactful relation to the past and a harmoni-ous combination to it new. Here it is important the cultural and professional potential of the reformer allowing him to choose correct art and style concept. Owning all arsenals of architectural and composite means, he needs to choose what are necessary in a concrete situation.
Allocating art and stylistic aspect of a shaping in the developed historical environment, the artist directly or indirectly uses plastic language of architecture to throw semantic bridges through various styles and eras.
Considers separate (some) examples of successful use of means of harmonization in building of historic centers of such cities as Prague, Vienna. The objects in modern architectural and constructive systems contrasting its conciseness and used materials are perfectly entered in magnificent eclectic building of the XIX century