bluuebunny/crossref_metadata_2025_split huggingface dataset:
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH
Authors: Plachy Lukas , Strakova Veronika , Elblova Lenka , Obermannova Barbora , Kolouskova Stanislava , Snajderova Marta , Zemkova Dana , Dusatkova Petra , Sumnik Zdenek , Lebl Jan , Pruhova Stepanka 
Published: February 2019

AbstractContextFamilial short stature (FSS) is a term describing a growth disorder that is vertically transmitted. Milder forms may result from the combined effect of multiple genes; more severe short stature is suggestive of a monogenic condition. The etiology of most FSS cases has not been thoroughly elucidated to date.ObjectivesTo identify the genetic etiology of severe FSS in children treated with GH because of the diagnosis of small for gestational age or GH deficiency (SGA/GHD).Design, Settings, and PatientsOf 736 children treated with GH because of GHD/SGA, 33 with severe FSS (life-minimum height −2.5 SD or less in both the patient and shorter parent) were included in the study. The genetic etiology was known in 5 of 33 children prior to the study [ACAN (in 2], NF1, PTPN11, and SOS1). In the remaining 28 of 33, whole-exome sequencing was performed. The results were evaluated using American College of Medical Genetics and Genomics standards and guidelines.ResultsIn 30 of 33 children (90%), we found at least one variant with potential clinical significance in genes known to affect growth. A genetic cause was elucidated in 17 of 33 (52%). Of these children, variants in growth plate-related genes were found in 9 of 17 [COL2A1, COL11A1, and ACAN (all in 2), FLNB, FGFR3, and IGF1R], and IGF-associated proteins were affected in 2 of 17 (IGFALS and HMGA2). In the remaining 6 of 17, the discovered genetic mechanisms were miscellaneous (TRHR, MBTPS2, GHSR, NF1, PTPN11, and SOS1).ConclusionsSingle-gene variants are frequent among families with severe FSS, with variants affecting the growth plate being the most prevalent.
Condensins and cohesins – one of these things is not like the other!
Authors: Skibbens Robert V. 
Published: February 2019

ABSTRACT
Condensins and cohesins are highly conserved complexes that tether together DNA loci within a single DNA molecule to produce DNA loops. Condensin and cohesin structures, however, are different, and the DNA loops produced by each underlie distinct cell processes. Condensin rods compact chromosomes during mitosis, with condensin I and II complexes producing spatially defined and nested looping in metazoan cells. Structurally adaptive cohesin rings produce loops, which organize the genome during interphase. Cohesin-mediated loops, termed topologically associating domains or TADs, antagonize the formation of epigenetically defined but untethered DNA volumes, termed compartments. While condensin complexes formed through cis-interactions must maintain chromatin compaction throughout mitosis, cohesins remain highly dynamic during interphase to allow for transcription-mediated responses to external cues and the execution of developmental programs. Here, I review differences in condensin and cohesin structures, and highlight recent advances regarding the intramolecular or cis-based tetherings through which condensins compact DNA during mitosis and cohesins organize the genome during interphase.
Therapy for acute basilar artery occlusion: a systematic review and meta-analysis
Authors: Sheng Kevin , Tong Marcus 
Published: February 2019

Purpose: This study aims to analyse the efficacy of different treatment methods for acute basilar artery occlusion, with an emphasis placed on evaluating the latest treatment methods. Method: A systematic review and meta-analysis was performed to analyse the current data on the therapies available for treating acute basilar artery occlusion. Results: A total of 102 articles were included. The weighted pooled rate of mortality was 43.16% (95% CI 38.35-48.03%) in the intravenous thrombolysis group, 45.56% (95% CI 39.88-51.28) in the intra-arterial thrombolysis group, and 31.40% (95% CI 28.31-34.56%) for the endovascular thrombectomy group. The weighted pooled rate of Modified Ranking Score (mRS) 0-2 at 3 months was 31.40 (95% CI 28.31-34.56%) in the IVT group, 28.29% (95% CI 23.16-33.69%) in the IAT group, and 35.22% (95% CI 32.39-38.09%) for the EVT group. Meta-analyses were also done for the secondary outcomes of recanalization and symptomatic haemorrhage. There was no difference between stent retriever and thrombo-aspiration thrombectomy on subgroup analysis in both clinical outcome and safety profile. Limitations: The included studies were observational in nature. There was significant heterogeneity in some of the outcomes. Conclusions: Superior outcomes and better recanalization rates for acute basilar occlusion were seen with patients managed with endovascular thrombectomy when compared with either intravenous and/or intraarterial thrombolysis. No superiority of stent‐retrievers over thrombo-aspiration thrombectomy was seen.
In search of our aunts’ gardens: Choreographic reconstruction, race and bodily transfer in Black Lōkəs
Authors: McMillan Christopher-Rasheem 
Published: February 2019

Abstract
This article is an analysis of a Practice as Research (PaR) project titled Black Lōkəs. Black Lōkəs (2017) is an experimental reconstruction of Trisha Brown’s Locus (1975). This article investigates the possibility of race being used as a creative lens for dance reconstruction, a lens that does not privilege accuracy or fidelity in a traditional sense but seeks to mine the possibility of dance reconstruction as a generative act that moves beyond preservation politics. This article is composed of three connected but distinct sections, including a brief overview of performance studies’ and critical dance studies’ use of the ‘archive’ in performance; a review of Black Lōkəs (2017) by a dance practitioner who also works with the body as archive; and the methodological process and theoretical underpinnings of the creation of Black Lōkəs (2017). This article consults both critical race theorists and dance theorists who, in concert, suggest novel possibilities for and through dance reconstruction and the politics that surround the archival fever in dance making.
Double Take – dance duets in the public realm
Authors: Hicks Claire , Callaghan Neil , Hassabi Maria , Huws Sioned , Kenyon Simone , Forknell Heather 
Published: February 2019

Abstract
Photo essay created as part of a larger performative project exploring what it means to put contemporary dance practice into public spaces and the experience and drive to place this work unexpectedly into the public realm. The duets by Neil Callaghan and Simone Kenyon, Maria Hassabi and Sioned Huws where all conceived to be presented outside of traditional theatre settings but would in other circumstances be unlikely, with their focus on repetition, stillness, a relationship with the floor, be put within the mainstream space of a UK summer seaside town, outside of any festival or art show.
Joint action and joint attention: Dance improvisation and children’s physical play as participatory sense-making activities
Authors: Hermans Carolien 
Published: February 2019

Abstract
In this article dance improvisation and children’s physical play events are considered organizational practices. Both activities organize and reorganize our lived and embodied experience. Even more, both activities are socially shared and culturally shaped – and thus highly relational. According to the enactive approach, sense-making evolves out of self-organizational processes in which brain, body and environment are linked. In this article the concept of participatory sense-making is used as a stepping stone to describe underlying mechanisms of both dance improvisation and children’s physical play. It is argued that the participants in a dance improvisation and physical play event coordinate their movements together and meaning is created and transformed through a shared intercorporality. The first part of the article consists of a theoretical exploration of several related concepts such as enactive account, embodiment, autonomy, experience, emergence and (participatory) sense-making. In the second part the theoretical concepts are applied to dance improvisational practice and physical play. Artistic research is used to shed light on underlying mechanisms that children’s physical play and dance improvisation share with one another, specifically how meaning is co-constituted in the direct embodied interaction.
Parents, children, and the popular music that binds them: New family dynamics and what they mean for community music
Authors: Lewis Judy 
Published: February 2019

Abstract
Popular music has a long and often contentious history with parents of young children in the United States. From Jazz in the 1930s to Rock ‘n Roll in the 1960s and Rock music in the 1980s, parents have often looked warily on new trends in music. But, with the ubiquity of popular music in contemporary life, how do parents of young children today view the popular music listening habits of their children? Is popular music informing the parent–child dynamic? This qualitative research study investigates the ways in which parents and their children are sharing popular music. Findings suggest that popular music is, today, an integral part of the parent–child relationship. Rather than view popular music as a possible form of negative socialization, parents and children are using shared engagements with popular music to navigate not only music-oriented experiences but life-based experiences. That is to say, popular music sharing serves as a way for parents and children, together, to read their world and explore their place in it. The question then becomes: what might we learn from those musical relationships that might enrich our community music programmes and our roles as community music facilitators?
Specific Gut and Salivary Microbiota Patterns Are Linked With Different Cognitive Testing Strategies in Minimal Hepatic Encephalopathy
Authors: Bajaj Jasmohan S. , Fagan Andrew , White Melanie B. , Wade James B. , Hylemon Phillip B. , Heuman Douglas M. , Fuchs Michael , John Binu V. , Acharya Chathur , Sikaroodi Masoumeh , Gillevet Patrick M. 
Published: February 2019

OBJECTIVES:
Minimal hepatic encephalopathy (MHE) is epidemic in cirrhosis, but testing strategies often have poor concordance. Altered gut/salivary microbiota occur in cirrhosis and could be related to MHE. Our aim was to determine microbial signatures of individual cognitive tests and define the role of microbiota in the diagnosis of MHE.

METHODS:
Outpatients with cirrhosis underwent stool collection and MHE testing with psychometric hepatic encephalopathy score (PHES), inhibitory control test, and EncephalApp Stroop. A subset provided saliva samples. Minimal hepatic encephalopathy diagnosis/concordance between tests was compared. Stool/salivary microbiota were analyzed using 16srRNA sequencing. Microbial profiles were compared between patients with/without MHE on individual tests. Logistic regression was used to evaluate clinical and microbial predictors of MHE diagnosis.

RESULTS:
Two hundred forty-seven patients with cirrhosis (123 prior overt HE, MELD 13) underwent stool collection and PHES testing; 175 underwent inhibitory control test and 125 underwent Stroop testing. One hundred twelve patients also provided saliva samples. Depending on the modality, 59%–82% of patients had MHE. Intertest Kappa for MHE was 0.15–0.35. Stool and salivary microbiota profiles with MHE were different from those without MHE. Individual microbiota signatures were associated with MHE in specific modalities. However, the relative abundance of Lactobacillaceae in the stool and saliva samples was higher in MHE, regardless of the modality used, whereas autochthonous Lachnospiraceae were higher in those without MHE, especially on PHES. On logistic regression, stool and salivary Lachnospiraceae genera (Ruminococcus and Clostridium XIVb) were associated with good cognition independent of clinical variables.

DISCUSSION:
Specific stool and salivary microbial signatures exist for individual cognitive testing strategies in MHE. The presence of specific taxa associated with good cognitive function regardless of modality could potentially be used to circumvent MHE testing.
Emasculating Trump: Incredulity, Homophobia, and the Spectacle of White Masculinity
Authors: Kelly Casey Ryan 
Published: February 2019

Abstract
This article examines the artistic campaign to emasculate Donald Trump through an analysis of public art installations and protest art that inverts the president’s avowed gender identity, depicting him as a woman, cross-dresser, eunuch, queer, transgender, and/or castrated male. Central to my argument is that white masculinity is so intertwined with homophobia that even ironic critiques of so-called toxic masculinity insulate more banal expressions of hegemonic masculinity from critique. Although playful and ironic, I argue that emasculating protest art invites the gaze of an incredulous onlooker, or unbelieving skeptic, whose scrutiny helps standardize the white masculine ideal by “outing” its putatively spectacular perversions. This article offers insight into how incredulity, as a response of so-called compensatory or hypermasculinity, draws on a standard of (hetero)normalcy that ultimately exonerates more commonplace but nonetheless harmful expressions of hegemonic white masculinity.
Rabbit Weddings, Animal Collectives, and the Potentialities of Perverse Reading: Children’s Literature and Queer Worldmaking in A Day in the Life of Marlon Bundo
Authors: Matos Angel Daniel 
Published: February 2019

Abstract
This article examines the queer and youth worldmaking frameworks implemented in Jill Twiss and E. G. Keller’s A Day in the Life of Marlon Bundo, a satirical picture book presented by Last Week Tonight with John Oliver. Both a critique of Mike Pence’s history of antiqueer politics and an exploration of matters such as democracy, queer kinship, and same-sex marriage, Marlon Bundo has been approached both as an effective critique of the current administration and as a “tired” political satire. This discussion explores the picture book’s ideological frameworks through the implementation of “perverse” forms of reading. It further highlights how Marlon Bundo connects to a history of children’s picture books aimed at critiquing conservative perspectives towards marriage, and demonstrates how the book is queerer and more generative than it may seem on the surface. Through an exploration of the picture book’s queer dynamics and its stance on notions such as difference, kinship, and collectivity, readers can better appreciate Marlon Bundo’s queerness regardless of its normative ending, and more effectively understand how this text partakes in a queer worldmaking project, in that it creates affinities and forms of kinship that traverse the boundaries of species, age, and readership.
Le roman Antigone de Bauchau à l’épreuve de la traduction. Dialogue avec son édition mexicaine.
Authors: COUTAZ Nadège 
Published: February 2019

L’article commente la traduction en espagnol du roman Antigone d’Henry Bauchau publiée en 2004 chez Verdehalago à Mexico par Laura Lopez Morales, également auteur de la traduction d’Œdipe sur la route, de Diotime et les lions et des poèmes de La Dogana. Outre le travail opéré sur le plan lexical, elle souligne l’importance des éléments paratextuels : l’aspect visuel de l’objet livre, les illustrations, la mise en page, la typographie, qui mettent en œuvre une sémantique graphique et infléchissent le texte vers le genre tragique, conformément à l’horizon d’attente mexicain.
Quand la vague rencontre le roc : l’émergence de l’île bauchalienne.
Authors: TOMASI Marie-Camille 
Published: February 2019

L’article observe, au départ du chapitre sur « La vague » dans le roman Œdipe sur la route, la représentation de l’insularité, comprise comme lieu de résurgence d’un temps primitif, fondamentalement sacré. Si dans L’Enfant bleu, l’île est initiatique, labyrinthique, et paradisiaque, dans le roman œdipien, elle incarne les puissances conjointes de la mer et du rocher et permet d’appréhender la force originelle des éléments, qui favorise également une régénérescence.
De l’achèvement de l’image à l’ouverture de l’œuvre d’art : éthique et esthétique chez Henry Bauchau et Emmanuel Levinas
Authors: DEL MASTRO Cesare 
Published: February 2019

Cette lecture de L’Enfant bleu en dialogue avec la philosophie d’Emmanuel Levinas prend pour hypothèse que, d’une esthétique de l’achèvement de l’image qui se situe aux antipodes de l’éthique, on passe ici à la création de l’œuvre d’art habitée par l’altérité. Le personnage d’Orion, d’abord prisonnier des images dévalorisantes qu’on lui renvoie et paralysé dans l’anonymat du « on doit », expérimente la barbarie intérieure, révélée grâce à la figuration du mythe du Minotaure. La mise en récit de ses dessins à l’usage de la thérapeute engage ensuite un appel à un au-delà de soi qui émane du visage de l’Autre ; elle invite à une dynamique positive d’échange, qui réintroduit une altérité positive.
La bibliothèque poétique d’Henry Bauchau
Authors: BELIN Olivier 
Published: February 2019

On esquisse ici un portrait du poète en lecteur au départ de la bibliothèque déposée par Henry Bauchau au Fonds qu’il a souhaité constituer à l’Université catholique de Louvain, devenue de ce fait lieu public d’étude, complétée par les annotations de lecture qui ponctuent les Journaux. On y découvre l’écrivain immergé dans un réseau de poètes contemporains, mais aussi des figures-phares de la littérature française, qu’il lit en quête de leur « rythme intérieur ».
De la genèse du corps poétique dans la genèse de « Lecture du corps »
Authors: FROYE Marianne 
Published: February 2019

L’étude propose d’observer la genèse du recueil poétique « Lecture du corps », inclus dans La Chine intérieure. Elle montre d’abord comment le poème prend forme dans et par la matière et éclaire comment Henry Bauchau vit la création corporellement, ce dont le poème se fait l’écho. Elle éclaire la présence de flux et de reflux, l’importance des espaces, et explique le caractère essentiel du mouvement de retrait, de réduction, de condensation, qui permet l’élaboration architecturale du poème dans les blasons du corps.
« On ne vit que lorsqu’on aime / On ne vit que si l’on saigne ».
Authors: BAUCHAU Henry 
Published: February 2019

Henry Bauchau avait rédigé en 1956 l’ébauche d’une pièce de théâtre consacrée au personnage de Spartacus : 64 feuillets manuscrits et 11 feuillets tapuscrits. Il s’agit donc de la révolte des esclaves guidée par le gladiateur évadé Spartacus, à laquelle ont mis fin Crassus et Pompée en 71 ACN. La transcription intégrale du texte occupe les pages 24 à 59. Transcription, présentation et commentaires par Pauline Basso et Jérémy Lambert (jeremy-lambert@hotmail.com).
Le théâtre empêché d’Henry Bauchau
Authors: WATTHEE-DELMOTTE Myriam 
Published: February 2019

Au-delà de l’œuvre publiée qui se déploie dans la polymorphie, le système imaginaire d’Henry Bauchau se rapproche des formes théâtrales sans coïncider avec elles pour se réaliser en décalage. Après un examen des pièces publiées (Gengis Khan, La Reine en amont, et l’adaptation du Prométhée enchaîné d’Eschyle), des circonstances de leur composition et de leur réception, on peut voir qu’Henry Bauchau est fortement déçu du peu d’enthousiasme que le milieu du théâtre manifeste à monter ses pièces, du moins à l’époque : il privilégie alors la poésie et le roman comme moyens d’expression. Le foisonnement des brouillons et ébauches des pièces non abouties montre pourtant à l’évidence que le genre dramatique lui tenait à cœur. Le scénario imaginaire ne passe au statut d’œuvre, de création, que lorsque l’intrigue dépasse le jeu des allégories intérieures et lorsque la langue devient poiein, engendrement : deux conditions qu’Henry Bauchau réalise aisément dans son œuvre narrative et poétique.
De l’écriture pour l’opéra.
Authors: CALLE-GRUBER Mireille 
Published: February 2019

Les textes de Bauchau portent en eux des voix multiples qui font penser à l’oratorio, on l’entend aller vers l’opéra. Cet article analyse les écritures du livret dans lesquelles il apparaît qu’Henry Bauchau cherche à faire lever des voix une tonalité musicale dans les déchirures des phrases plutôt que de monter un récit. Cette priorité de la voix sur la narration, caractéristique de l’opéra contemporain, est ensuite analysée plus en détail dans La lumière Antigone qui, à la différence des autres opéras, n’est pas une simple adaptation du roman, mais en constitue comme une suite, un prolongement. La voix « lumineuse » d’Antigone alliée à la musique se fait ainsi réécriture du mythe qu’elle archive : celle de la scène, toujours renouvelée, de la résistance dans le désastre mondialisé. L’article porte en annexe deux lettres de Pierre Bartholomée à M. Calle-Gruber.
Bared Teeth, Plucked Feathers, Broken Eggs: Reading Human-Animal Relationships through Audubon
Authors: Huff Jacob M 
Published: February 2019

In this paper, I study John James Audubon’s famed drawings of wildlife to uncover his perspective on the evolving relationships between humans and animals during the era of American westward expansion. Using three engravings from Birds of America, along with his accompanying essays, I look beyond the animals in the foreground to examine the human settlements often lurking in the background. I discover that Audubon portrays three distinct types of human-animal relationships, which I then compare to the human presence shown in two of his later works, the engravings of Viviparous Quadrupeds of North America and their subsequent essays. This second set of drawings undercuts any attempt to derive an optimistic interpretation of the Birds plates, for they reveal an unsustainable relationship between humans and the animals whose habitats they invade. I conclude that while Birds and Quadrupeds glorify their animal subjects, rightly qualifying as artistic and scientific triumphs, their depiction of human activity carries a much darker weight, suggesting that human presence in nature necessarily causes damage. Ultimately, this idea recasts Audubon as a thinker who transcends his historical location and offers a relevant perspective on the environment occupied by the modern reader.
Sexual Practice and Fantasy in Colonial America and the Early Republic
Authors: Solomon Richard 
Published: February 2019

The sexual practices of European colonists, Native Americans, and African-American slaves of the American colonies and early republic reflected economic and religious disparities, providing specific cultural phenomena in which power relations are established and reaffirmed. These hierarchies not only prescribed the role of sex in quotidian American life; they created lasting traditions in sexual practices that continue to the present day. For this thesis, I rely on contemporary and classic historiography, religious studies, and gender scholarship to make claims about the role of women in colonial society and the treatment and fantasy-construction of marginalized peoples: namely, African-American slaves and Native Americans. Specifically, I will show how colonial women leveraged their scarcity and sexual desirability to secure their gender’s procreative role and social utility in Puritan and Southern colonies. I will show how the formation and subjugation of the Black slave class acquired distinct and lasting sexual fault lines, how political pressures and economic incentives to justify and nurture slavery shaped whites’ sexual attitudes and behavior, and finally how national myths of manifest destiny and the fecundity of the land came dominate whites experience of native American sexuality.