Molecular genetic studies of recessively inherited eye disease

Cataract is the opacification of the crystalline lens of the eye. Both childhood and later-onset cataracts have been linked with complex genetic factors. Cataracts vary in phenotype and exhibit genetic heterogeneity. They can appear as isolated abnormalities, or as part of a syndrome. During this project, analysis of syndromic and non-syndromic cataract families using genetic linkage studies was undertaken in order to identify the genes involved, using an autozygosity mapping and positional candidate approach. Causative mutations were identified in families with syndromes involving cataracts. The finding of a mutation in CYP27A1 in a family with Cerebrotendinous Xanthomatosis permitted clinical intervention as this is a treatable disorder. A mutation that segregated with disease status in a family with Marinesco Sjogren Syndrome was identified in SIL1. In a family with Knobloch Syndrome, a frameshift mutation in COL18A1 was detected. Analysis of families with non-syndromic autosomal recessive cataracts was also performed, identifying homozygous candidate regions, and sequencing candidate genes within these regions. The identification of a potential putative mutation in one family in CDC25A illustrated the challenges of distinguishing between rare benign variants and pathogenic mutations. Identification of novel genes involved in cataractogenesis will increase understanding of the pathways involved in cataract formation, and benefit affected families through genetic counselling, and, potentially personalised management

Phylogenetics of Lymnaeidae (Mollusca: Gastropoda) with Emphasis on the Evolution of Susceptibility to Fascioloides magna Infection

Snails in Lymnaeidae serve as intermediate hosts in the transmission of many trematode species, including Fascioloides magna that is responsible for disease and death in domestic livestock in North America. Previous classifications of lymnaeid snails have relied primarily on morphological characters that exhibit high levels of homoplasy; thereby, impeding a sound assessment of relationships in this group. The present study provides a phylogenetic hypothesis for lymnaeid snails employing sequences from the internal transcribed spacer (ITS) region of nrDNA, and addresses the evolution of susceptibility to Fascioloides infection in lymnaeid snails. The final data set, comprising ten species of lymnaeid snails and one species of Physidae, included 1368 characters, of which 327 were parsimony-informative. Three major clades were recovered in neighbor-joining analyses that consisted of individuals of Stagnicola caperata, Fossaria s.s., and Stagnicola s.s. + F. Bakerlymnea sp. Stagnicola caperata, the main host of F. magna in Minnesota, revealed a closer alliance to Fossaria spp. than to other species of Stagnicola, suggesting that its placement in the stagnicoline sub-genus Hinkleyia is suspect. Members of Fossaria s.s., that have tricuspid first lateral teeth in the radula, were monophyletic to the exclusion of F. Bakerlymnea, a well-supported member of the stagnicoline clade. Therefore, our estimate of lymnaeid phylogeny supports the taxonomic scheme proposed by Baker (1911) that suggests members of Bakerlymnea be classified as stagnicolines based on their shared bicuspid dentition. Although a stagnicoline clade was strongly supported, there was low resolution of species within the clade. Log-determinent distances between species of Stagnicola s.s. were less than those observed between individuals of Stagnicola caperata, indicating that a region with higher rates of evolution is necessary to determine relationships in this group. Susceptibility to Fascioloides magna infection is widespread in North American lymnaeid snails based on experimental infections. However, an examination of naturally infected intermediate hosts suggests that host status may be due to high exposure rates that result from close interactions between intermediate and definitive hosts

Whither critical education in the neoliberal university? Two practitioners’ reflections on constraints and possibilities

This paper, based on the reflections of two academic social scientists, offers a starting point for dialogue about the importance of critical pedagogy within the university today, and about the potentially transformative possibilities of higher education more generally. We first explain how the current context of HE, framed through neoliberal restructuring, is reshaping opportunities for alternative forms of education and knowledge production to emerge. We then consider how insights from both critical pedagogy and popular education inform our work in this climate

Paediatricians’ Engagement with Reflective Practice: A Scoping Review

Introduction: This scoping review identified literature describing reflective practice amongst paediatricians and then aligned the reflective concepts with Wellington and Austin’s Orientations to Reflection: Immediate, Technical, Deliberative, Dialectical and Transpersonal. These distinctions present concepts for paediatricians to contemplate in their reflective practice. Methods: OVID MEDLINE and APA PsycInfo databases were searched for English language articles in peer-reviewed journals using the terms “paediatric*” AND “pediatric*” AND “doctor*” and “physician*” AND “reflect*”. A data capture form was created and populated. Results: Twenty-one articles describing reflective practice amongst paediatricians were identified. Most articles (43%; n = 9) described the immediate orientation to reflection. One article, a personal perspective from a late-career stage paediatrician, aligned with a transpersonal orientation to reflection. Conclusions: Reflective practice of the immediate orientation is accepted by paediatricians during education initiatives. It often takes place accidentally but can be developed through awareness of reflection, role-modelling, goal-setting, and feedback. Enhancing factors include a friendly, flexible learning environment, faculty support, protected time, and sharing significant experiences. Positive effects of promoting reflection include enhancing clinical practice, increasing resilience, and entrustment. Barriers include emphasis on efficiency, lack of continuity or awareness, negative emotions, and burnout. Reflective practice should be encouraged. One should not assume “it just happens”

Cracking capitalist realism: the new student movement and its post-capitalist politics

There is much talk of =the crisis‘ in higher education, often expressed in fatalistic narratives about the (im)possibility of critical resistance or alternatives to the deepening domination of neoliberal rationality and capitalist power throughout social life. But how precisely are we to make sense of this situation? In what ways is it experienced? And what knowledges and practices may help us to respond? These questions form the basis for a series of explorations of the history and character of this crisis, the particular historical conjuncture that we occupy today, and the different types of theoretical analysis and political response it seems to be engendering. Our talk will explore the tensions between readings of the situation as a paralyzing experience of domination, loss and impossibility, on the one hand, and radical transformation and the opening of future possibilities, on the other. We will finally consider what implications new forms of political theory being created in the new student movements have for reconceptualising praxis in higher education today, and perhaps for a wider imagination of post-capitalist politics