Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.

Generalized lymphatic dysplasia (GLD) is a rare form of primary lymphoedema characterized by a uniform, widespread lymphoedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. This may present prenatally as non-immune hydrops. Here we report homozygous and compound heterozygous mutations in PIEZO1, resulting in an autosomal recessive form of GLD with a high incidence of non-immune hydrops fetalis and childhood onset of facial and four limb lymphoedema. Mutations in PIEZO1, which encodes a mechanically activated ion channel, have been reported with autosomal dominant dehydrated hereditary stomatocytosis and non-immune hydrops of unknown aetiology. Besides its role in red blood cells, our findings indicate that PIEZO1 is also involved in the development of lymphatic structures

Schools, teachers and community: cultivating the conditions for engaged student learning

This paper reveals the nature of the actions, discussions and relationships which characterised teachers' and associated school personnel's efforts to engage poor and refugee students through a community garden located in a school in a low socio-economic urban area in south-east Queensland, Australia. These actions, discussions and relationships are described as both revealing and producing particular 'practice architectures' which help constitute conditions for practice-in this case, conditions for beneficial student learning. The paper draws upon interview data with teachers, other school staff and community members working in the school to reveal the interrelating actions, discussions and relationships involved in developing and using the garden for academic and non-academic purposes. By better understanding such interrelationships as practice architectures, the paper reveals how teachers and those in schooling settings learn to facilitate student learning practices that likely to assist some of the most marginalised students in schooling settings

Extramuscular myofascial force transmission alters substantially the acute effects of surgical aponeurotomy: assessment by finite element modeling

Effects of extramuscular myofascial force transmission on the acute effects of aponeurotomy were studied using finite element modeling and implications of such effects on surgery were discussed. Aponeurotomized EDL muscle of the rat was modeled in two conditions: (1) fully isolated (2) with intact extramuscular connections. The specific goal was to assess the alterations in muscle length-force characteristics in relation to sarcomere length distributions and to investigate how the mechanical mechanism of the intervention is affected if the muscle is not isolated. Major effects of extramuscular myofascial force transmission were shown on muscle length-force characteristics. In contrast to the identical proximal and distal forces of the aponeurotomized isolated muscle, substantial proximo-distal force differences were shown for aponeurotomized muscle with extramuscular connections (for all muscle lengths F dist > F prox after distal muscle lengthening). Proximal optimal length did not change whereas distal optimal length was lower (by 0.5 mm). The optimal forces of the aponeurotomized muscle with extramuscular connections exerted at both proximal and distal tendons were lower than that of isolated muscle (by 15 and 7%, respectively). The length of the gap separating the two cut ends of the intervened aponeurosis decreases substantially due to extramuscular myofascial force transmission. The amplitude of the difference in gap length was muscle length dependent (maximally 11.6% of the gap length of the extramuscularly connected muscle). Extramuscular myofascial force transmission has substantial effects on distributions of lengths of sarcomeres within the muscle fiber populations distal and proximal to the location of intervention: (a) Within the distal population, the substantial sarcomere shortening at the proximal ends of muscle fibers due to the intervention remained unaffected however, extramuscular myofascial force transmission caused a more pronounced serial distribution towards the distal ends of muscle fibers. (b) In contrast, extramuscular myofascial force transmission limits the serial distribution of sarcomere lengths shown for the aponeurotomized isolated muscle in the proximal population. Fiber stress distributions showed that extramuscular myofascial force transmission causes most sarcomeres within the aponeurotomized muscle to attain lengths favorable for higher force exertion. It is concluded that acute effects of aponeurotomy on muscular mechanics are affected greatly by extramuscular myofascial force transmission. Such effects have important implications for the outcome of surgery performed to improve impeded function since muscle in vivo is not isolated both anatomically and mechanically

Opportunities to Learn Mathematics Pedagogy and Connect Classroom Learning to Practice: A Study of Future Teachers in the United States and Singapore

In this study, we conducted secondary analyses using the TEDS-M database to explore future mathematics specialists teachers’ opportunities to learn (OTL) how to teach mathematics. We applied latent class analysis techniques to differentiate among groups of prospective mathematics specialists with potentially different OTL mathematics pedagogy within the United States and Singapore. Within the United States, three subgroups were identified: (a) Comprehensive OTL, (b) Limited OTL, and (c) OTL Mathematics Pedagogy. Within Singapore, four subgroups were identified: (a) Comprehensive OTL, (b) Limited Opportunities to Connect Classroom Learning with Practice, (c) OTL Mathematics Pedagogy, and (d) Basic OTL. Understanding the opportunities different prospective teachers had to learn from and their experiences with different components of instructional practice in university and practicum settings has implications for teacher preparation programs

The sovereignty of the royal portrait in revolutionary and Napoleonic Europe: five case studies surrounding Maria Carolina, Queen of Naples

This study demonstrates how royal portraiture functioned during the Revolutionary and Napoleonic wars as a vehicle for visualizing and processing the contemporary political upheavals. It does so by considering a notion of the 'sovereignty of the portrait', that is, the semiotic integrity (or precisely the lack thereof) and the material territory of royal portraiture at this historical juncture. Working from an assumption that the precariousness of sovereignty which delineated the Revolutionary and Napoleonic wars goes hand in hand with the precariousness of representation during the same period, it reframes prevailing readings of royal portraiture in the aftermath of the French Revolution by approaching the genre less as one defined by the oneway propagation of a message, and more as a highly unstable intermedial network of representation. This theoretical undertaking is refracted through the figure of Maria Carolina, Queen of Naples (1752-1814), close sister and foil to Queen Marie- Antoinette of France, and who, as de facto ruler of the Kingdom of Naples, physically survived revolution but was twice dethroned and thrice exiled. A diverse ecology of royal portraiture revolving around Maria Carolina is presented across five case studies. Close attention to the materiality of a hyperrealistic wax bust of Maria Carolina reveals how portraiture absorbed the trauma of the French Revolution; Maria Carolina’s correspondence in invisible ink is used as a tool to read a highly distinctive visual language of 'hidden' silhouettes of sovereigns and to explore the in/visibility of exile; a novel reading of Antonio Canova's work for the Neapolitan Bourbons through the lens of contemporary caricature problematizes the binary between ancien régime and parvenue monarchy; and a unique miniature of Maria Carolina offers itself as a material metaphor for post-revolutionary sovereignty. Finally, Maria Carolina’s death mask testifies to how Maria Carolina herself became a relic of the ancien régime.This thesis is not currently available in OR

The sovereignty of the royal portrait in revolutionary and Napoleonic Europe: five case studies surrounding Maria Carolina, Queen of Naples

This study demonstrates how royal portraiture functioned during the Revolutionary and Napoleonic wars as a vehicle for visualizing and processing the contemporary political upheavals. It does so by considering a notion of the 'sovereignty of the portrait', that is, the semiotic integrity (or precisely the lack thereof) and the material territory of royal portraiture at this historical juncture. Working from an assumption that the precariousness of sovereignty which delineated the Revolutionary and Napoleonic wars goes hand in hand with the precariousness of representation during the same period, it reframes prevailing readings of royal portraiture in the aftermath of the French Revolution by approaching the genre less as one defined by the oneway propagation of a message, and more as a highly unstable intermedial network of representation. This theoretical undertaking is refracted through the figure of Maria Carolina, Queen of Naples (1752-1814), close sister and foil to Queen Marie- Antoinette of France, and who, as de facto ruler of the Kingdom of Naples, physically survived revolution but was twice dethroned and thrice exiled. A diverse ecology of royal portraiture revolving around Maria Carolina is presented across five case studies. Close attention to the materiality of a hyperrealistic wax bust of Maria Carolina reveals how portraiture absorbed the trauma of the French Revolution; Maria Carolina’s correspondence in invisible ink is used as a tool to read a highly distinctive visual language of 'hidden' silhouettes of sovereigns and to explore the in/visibility of exile; a novel reading of Antonio Canova's work for the Neapolitan Bourbons through the lens of contemporary caricature problematizes the binary between ancien régime and parvenue monarchy; and a unique miniature of Maria Carolina offers itself as a material metaphor for post-revolutionary sovereignty. Finally, Maria Carolina’s death mask testifies to how Maria Carolina herself became a relic of the ancien régime

Exploring relationships between teacher identities and disciplinarity

The relationships between discipline specialization, teacher identity, and pedagogy can be seen as the crux of practice in the music classroom – impacting on all the actions of the teacher, both within and outside the classroom. Crucially, the impact of music teacher identity on the nature of music teaching and learning is one that has the potential to illuminate influences underlying the professional practices of teachers. This project explores how experienced, well-regarded teachers define their own identities, and implications of such identities to their practice. The primary mode of data collection was through extended semi-structured interviews, although observations of the classroom were also undertaken. Grounded theory analysis techniques were utilized, involving inductive and deductive coding to develop themes and sub-themes. The structured data set was then used to theorize the central topics of the study, while always returning to the empirical data for verification and exemplification. Findings suggest that music teachers identify firstly as performing musicians, and this impacts greatly on the way they perceive themselves in their teaching practice. The analysis raises questions about useful ways for music educators to conceive of their professional identities. Findings have the potential to provide insights into improving classroom practice