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

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

Redescription of Anaschisma (Temnospondyli: Metoposauridae) from the Late Triassic of Wyoming and the phylogeny of the Metoposauridae

Metoposaurids are non-marine temnospondyls that are among the most common constituents of Late Triassic deposits, but despite their abundance, the evolutionary relationships of the group are poorly resolved and have not been fully addressed with modern phylogenetic methods. The genus Anaschisma is one of a number of poorly resolved metoposaurid taxa and was erected to describe two species from the Popo Agie Formation (Carnian) in Wyoming: Anaschisma browni and Anaschisma brachygnatha. Since being named, the genus has been repeatedly synonymized and separated with other taxa in the context of broader revisions of the Metoposauridae. At present, Anaschisma is considered to be an indeterminate metoposaurid. Extensive descriptive work of metoposaurids since the erection of Anaschisma in 1905 and the last taxonomic review of the clade in 1993, including the naming of several new taxa and the reappraisal of several others, has generated a sufficiently detailed database through which to re-evaluate the taxonomy of the Metoposauridae as part of the analysis of phylogenetic relationships of Anaschisma. Here we reappraise and redescribe the holotypes of A. browni and A. brachygnatha to determine their taxonomic status and relationships in the context of an updated and revised metoposaurid phylogenetic framework. Anaschisma browni and Anaschisma brachygnatha are synonymized under the former species, as all previously listed diagnostic differences are compatible with intraspecific variation. Additionally, the well-known Koskinonodon perfectus is found to be a junior synonym of Anaschisma browni, which takes taxonomic precedence given its earlier description. Poor phylogenetic resolution of the Metoposauridae is likely the product of marked morphological conservatism within the clade and limited character sampling, although some patterns of regional clustering are apparent from the analysis

Rapid communications M u m p s in Ir e l a n d, 2004-2008

Following a national mumps outbreak that began in November 2004 and continued into 2005, the number of mumps notifications in Ireland waned in the latter half of 2006 and during 2007 (Figure 1). However, mumps notifications have started to increase again in 2008 (Figure 1). The number of mumps notifications annuall

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

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

3D virtual worlds as environments for literacy learning

Background: Although much has been written about the ways in which new technology might transform educational practice, particularly in the area of literacy learning, there is relatively little empirical work that explores the possibilities and problems - or even what such a transformation might look like in the classroom. 3D virtual worlds offer a range of opportunities for children to use digital literacies in school, and suggest one way in which we might explore changing literacy practices in a playful, yet meaningful context. Purpose: This paper identifies some of the key issues that emerged in designing and implementing virtual world work in a small number of primary schools in the UK. It examines the tensions between different discourses about literacy and literacy learning and shows how these were played out by teachers and pupils in classroom settings.Sources of evidence: Case study data are used as a basis for exploring and illustrating key aspects of design and implementation. The case study material includes views from a number of perspectives including classroom observations, chatlogs, in-world avatar interviews with teachers and also pupils, as well as the author’s field notes of the planning process with accompanying minutes and meeting documents.Main argument: From a Foucauldian perspective, the article suggests that social control of pedagogical practice through the regulation of curriculum time, the normalisation of teaching routines and the regimes of individual assessment restricts teachers’ and pupils’ conceptions of what constitutes literacy. The counternarrative, found in recent work in new litearcies (Lankshear & Knobel, 2006) provides an attractive alternative, but a movement in this direction requires a fundamental shift of emphasis and a re-conceptualisation of what counts as learning.Conclusions: This work on 3D virtual worlds questions the notion of how transformative practice can be achieved with the use of new technologies. It suggests that changes in teacher preparation, continuing professional development as well as wider educational reform may be needed

Identification of plasma and urinary metabolites and catabolites derived from orange juice (poly)phenols: analysis by high-performance liquid chromatography–high-resolution mass spectrometry

Orange juice is a rich source of (poly)phenols, in particular, the flavanones hesperetin-7-O-rutinoside and naringenin-7-O-rutinoside. Following the acute consumption of 500 mL of orange juice containing 398 μmol of (poly)phenols by 12 volunteers, 0–24 h plasma and urine samples were analyzed by targeted high-performance liquid chromatography–high-resolution mass spectrometry in order to identify flavanone metabolites and phenolic acid and aromatic catabolites. A total of 19 flavanone metabolites—comprising di-O-glucuronide, O-glucuronide, O-glucuronyl-sulfate, and sulfate derivatives of hesperetin, naringenin, and eriodictyol—and 65 microbial-derived phenolic catabolites, such as phenylpropanoid, phenylpropionic, phenylacetic, benzoic, and hydroxycarboxylic acids and benzenetriol and benzoylglycine derivatives, including free phenolics and phase II sulfate, glucuronide, and methyl metabolites, were identified or partially identified in plasma and/or urine samples. The data obtained provide a detailed evaluation of the fate of orange juice (poly)phenols as they pass through the gastrointestinal tract and are absorbed into the circulatory system prior to renal excretion. Potential pathways for these conversions are proposed

Characterization of High-Power Rocket and Jet Noise Using Near-Field Acoustical Holography

Structural fatigue, hearing damage, and community disturbances are all consequences of rocket and jet noise, especially as they become more powerful. Noise-reduction schemes require accurate characterization of the noise sources within rocket plumes and jets. Nearfield acoustical holography (NAH) measurements were made to visualize the sound field in the jet exhaust region of an F-22 Raptor. This is one of the largest-scale applications of NAH since its development in the 1980s. A scan-based holographic measurement was made using a 90-microphone array with 15 cm regular grid spacing, for four engine power settings. The array was scanned through 93 measurement positions, along three different planes in a region near 7 m from the jet centerline and 23 m downstream. In addition, 50 fixed reference microphones were placed along the ground 11.6 m from the jet centerline, spanning 30.8 m. The reference microphones have been used to perform virtual coherence on the measurement planes. Statistically-optimized NAH (SONAH) has been used to backpropagate the sound field to the source region for low frequencies, and to identify jet noise characteristics. Ground reflection interference and other non-ideal measurement conditions must be dealt with. Details relating to jet coherence lengths and their relation to reference microphone requirements will be discussed. Preliminary results of this ongoing work will be presented. [Work supported by Air Force SBIR.