Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.

PurposeTo report potentially pathogenic mutations in the keratin 3 (KRT3) and keratin 12 (KRT12) genes in two individuals with clinically diagnosed Meesmann corneal dystrophy (MECD).MethodsSlit-lamp examination was performed on the probands and available family members to identify characteristic features of MECD. After informed consent was obtained, saliva samples were obtained as a source of genomic DNA, and screening of KRT3 and KRT12 was performed. Potentially pathogenic variants were screened for in 200 control chromosomes. PolyPhen-2, SIFT, and PANTHER were used to predict the functional impact of identified variants. Short tandem repeat genotyping was performed to confirm paternity.ResultsSlit-lamp examination of the first proband demonstrated bilateral, diffusely distributed, clear epithelial microcysts, consistent with MECD. Screening of KRT3 revealed a heterozygous missense variant in exon 1, c.250C>T (p.(Arg84Trp)), which has a minor allele frequency of 0.0076 and was not identified in 200 control chromosomes. In silico analysis with PolyPhen-2 and PANTHER predicted the variant to be damaging to protein function; however, SIFT analysis predicted tolerance of the variant. The second proband demonstrated bilateral, diffusely distributed epithelial opacities that appeared gray-white on direct illumination and translucent on retroillumination. Neither parent demonstrated corneal opacities. Screening of KRT12 revealed a novel heterozygous insertion/deletion variant in exon 6, c.1288_1293delinsAGCCCT (p.(Arg430_Arg431delinsSerPro)). This variant was not present in either of the proband's parents or in 200 control chromosomes and was predicted to be damaging by PolyPhen-2, PANTHER, and SIFT. Haplotype analysis confirmed paternity of the second proband, indicating that the variant arose de novo.ConclusionsWe present a novel KRT12 mutation, representing the first de novo mutation and the first indel in KRT12 associated with MECD. In addition, we report a variant of uncertain significance in KRT3 in an individual with MECD. Although the potential pathogenicity of this variant is unknown, it is the first variant affecting the head domain of K3 to be reported in an individual with MECD and suggests that disease-causing variants associated with MECD may not be restricted to primary sequence alterations of either the helix-initiation or helix-termination motifs of K3 and K12

A discourse analysis of trainee teacher identity in online discussion forums

Teacher education involves an identity transformation for trainees from being a student to being a teacher. This discourse analysis examined the online discussion board communications of a cohort of trainee teachers to better understand the situated identities of the trainees and how they were presented online. Their discussion board posts were the primary method of communication during placement periods and, as such, provided insight into how the trainees situated their identities in terms of being a student or being a teacher. During the analysis, the community boundaries, language and culture were explored along with the tutor's power and role in the identity transformation process. This involved looking at the lexis used by the students, the use of pronouns to refer to themselves and others such as teachers and pupils, the types of messages allowed in the community and the effect of the tutor's messages on their communication. The research found that the trainees felt comfortable with teaching but did not feel like teachers during the course. Tutors and school teachers need to develop an awareness of the dual nature of trainees' identities and help promote the transition from student to teacher. In the beginning of the course, trainees should be familiarised with teacher vocabulary and practical concepts in addition to pedagogical theory. Towards the end of the course, trainee identity as teachers could be promoted through the use of authentic assessments that mirror real teacher tasks and requirements

Singular values of some modular functions

We study the properties of special values of the modular functions obtained from Weierstrass P-function at imaginary quadratic points.Comment: 19 pages,corrected typo

The Effect of Synovex-S Implants on Feedlot Performance of Angus Bulls and Early Feedlor Period Castrated Angus Bulls

The objective of this research was to determine the effect on feedlot performance of implanting bulls and steers with Synovex-S, and comparing steers to bulls. Profit or loss upon marketing was also studied. Responses to these treatments in terms of feedlot performance provide information to help determine the most effective method of feeding bulls or steers and revenue in dollars upon sale assists in determining the best management scheme for profit

Implant Combinations and Reimplanting Strategies for Yearling Steers Fed High Concentrate Diets

Crossbred yearling steers were used to determine the relative efficacy of specific anabolic implant combinations and sequences on feedlot performance and carcass traits. Steers were fed a high concentrate finishing diet for 112 days. lmplanting was done on days 1 and 42 of the feeding period. lmplanting improved (P \u3c .05) average daily gain (ADG) 22% and feed efficiency 15%. Implant treatment generally increased dry matter intake. Lmplanting increased (P\u3c.05) the rib eye area of carcasses 6.5% and tended to cause a reduction in percentage choice carcasses. The percentage of abscessed implants ranged from \u3c 1 % to 10%, depending on the type of implant used even though implant needles were disinfected between each use

The Effects of Breed and Implant on Bullock Beef

Ninety-seven Angus and 98 Gelbvieh crossbred bulls were used to evaluate the effects of Ralgro, Synovex-H and Synovex-S implants on the growth, carcass and palatability traits of young bulls. The influence of the growth promoting implants on the feedlot performance of the bulls was dependent on their breed type and their stage growth. Percentage retail yield was the only carcass characteristic that was affected by the implants. The implanted bulls yielded carcasses with more external fat and less desirable yield grades than the controls. Rib eye area was not affected by the implants. Breed influenced feedlot performance, carcass composition and quality and palatability attributes more than the implants. The large-framed, late maturing Gelbvieh crossbred bulls grew faster and produced carcasses yielding higher percentages of boneless and produced carcasses yielding higher percentages of boneless trimmed retail cuts than the Angus bulls. The quality grades and palatability traits of the Gelbvieh bulls were marginal. The Angus bull carcasses has very acceptable yield grades (YG-2) and more desirable quality grades and sensory evaluations than the Gelbvieh crossbred bulls. Thus, the use of medium-framed intact males may be more appropriate than the larger framed breeds to produce a more acceptable product for both the packer and the consumer. Packer acceptability needs to be enhanced to make the use of intact males economically feasible for the producer

Possibilities for pedagogy in Further Education: Harnessing the abundance of literacy

In this report, it is argued that the most salient factor in the contemporary communicative landscape is the sheer abundance and diversity of possibilities for literacy, and that the extent and nature of students' communicative resources is a central issue in education. The text outlines the conceptual underpinnings of the Literacies for Learning in Further Education project in a social view of literacy, and the associated research design, methodology and analytical framework. It elaborates on the notion of the abundance of literacies in students' everyday lives, and on the potential for harnessing these as resources for the enhancement of learning. It provides case studies of changes in practice that have been undertaken by further education staff in order to draw upon students' everyday literacy practices on Travel and Tourism and Multimedia courses. It ends with some of the broad implications for conceptualising learning that arise from researching through the lens of literacy practices

The Value of Literacy Practices

The concepts of literacy events and practices have received considerable attention in educational research and policy. In comparison, the question of value, that is, ‘which literacy practices do people most value?’ has been neglected. With the current trend of cross-cultural adult literacy assessment, it is increasingly important to recognise locally valued literacy practices. In this paper we argue that measuring preferences and weighting of literacy practices provides an empirical and democratic basis for decisions in literacy assessment and curriculum development and could inform rapid educational adaptation to changes in the literacy environment. The paper examines the methodological basis for investigating literacy values and its potential to inform cross-cultural literacy assessments. The argument is illustrated with primary data from Mozambique. The correlation between individual values and respondents’ socio-economic and demographic characteristics is explored

Reading Videogames as (authorless) Literature

This article presents the outcomes of research, funded by the Arts and Humanities Research Council in England and informed by work in the fields of new literacy research, gaming studies and the socio-cultural framing of education, for which the videogame L.A. Noire (Rockstar Games, 2011) was studied within the orthodox framing of the English Literature curriculum at A Level (pre-University) and Undergraduate (degree level). There is a plethora of published research into the kinds of literacy practices evident in videogame play, virtual world engagement and related forms of digital reading and writing (Gee, 2003; Juul, 2005; Merchant, Gillen, Marsh and Davies, 2012; Apperley and Walsh, 2012; Bazalgette and Buckingham, 2012) as well as the implications of such for home / school learning (Dowdall, 2006; Jenkins, 2006; Potter, 2012) and for teachers’ own digital lives (Graham, 2012). Such studies have tended to focus on younger children and this research is also distinct from such work in the field in its exploration of the potential for certain kinds of videogame to be understood as 'digital transformations' of conventional ‘schooled’ literature. The outcomes of this project raise implications of such a conception for a further implementation of a ‘reframed’ literacy (Marsh, 2007) within the contemporary curriculum of a traditional and conservative ‘subject’. A mixed methods approach was adopted. Firstly, students contributing to a gamplay blog requiring them to discuss their in-game experience through the ‘language game’ of English Literature, culminating in answering a question constructed with the idioms of the subject’s set text ‘final examination’. Secondly, students taught their teachers to play L.A. Noire, with free choice over the context for this collaboration. Thirdly, participants returned to traditional roles in order to work through a set of study materials provided, designed to reproduce the conventions of the ‘study guide’ for literature education. Interviews were conducted after each phase and the outcomes informed a redrafting of the study materials which are now available online for teachers – this being the ‘practical’ outcome of the research (Berger and McDougall, 2012). In the act of inserting the study of L.A. Noire into the English Literature curriculum as currently framed, this research moves, through a practical ‘implementation’ beyond longstanding debates around narratology and ludology (Frasca, 2003; Juul, 2005) in the field of game studies (Leaning, 2012) through a direct connection to new literacy studies and raises epistemological questions about ‘subject identity’, informed by Bernstein (1996) and Bourdieu (1986) and the implications for digital transformations of texts for both ideas about cultural value in schooled literacy (Kendall and McDougall, 2011) and the politics of ‘expertise’ in pedagogic relations (Ranciere, 2009, Bennett, Kendall and McDougall, 2012a)

Stick-Slip Motion and Phase Transition in a Block-Spring System

We study numerically stick slip motions in a model of blocks and springs being pulled slowly. The sliding friction is assumed to change dynamically with a state variable. The transition from steady sliding to stick-slip is subcritical in a single block and spring system. However, we find that the transition is continuous in a long chain of blocks and springs. The size distribution of stick-slip motions exhibits a power law at the critical point.Comment: 8 figure