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 superconducting magnetic energy storage-emulator/battery supported dynamic voltage restorer

This study examines the use of superconducting magnetic and battery hybrid energy storage to compensate grid voltage fluctuations. The superconducting magnetic energy storage system (SMES) has been emulated by a high current inductor to investigate a system employing both SMES and battery energy storage experimentally. The design of the laboratory prototype is described in detail, which consists of a series-connected three phase voltage source inverter used to regulate AC voltage, and two bidirectional DC/DC converters used to control energy storage system charge and discharge. 'DC bus level signaling' and 'voltage droop control' have been used to automatically control power from the magnetic energy storage system during short-duration, high power voltage sags, while the battery is used to provide power during longer-term, low power under-voltages. Energy storage system hybridisation is shown to be advantageous by reducing battery peak power demand compared with a battery-only system, and by improving long term voltage support capability compared with a SMES-only system. Consequently, the SMES/battery hybrid DVR can support both short term high-power voltage sags and long term undervoltages with significantly reduced superconducting material cost compared with a SMES-based system.</p

Field-Testing Reusable Learning Objects Related to Sensory Over-Responsiveness

Background. There is an increased need for dynamic, mobile, and relevant parent and caregiver education related to autism spectrum disorders (ASD) and Sensory Processing (SP). This need may be due to the increased incidence of the conditions’ co-morbidity and the revision of the diagnostic criteria of ASD. Reusable learning objects (RLOs) have been implemented as instructional tools as a part of, or adjunct to, formal health care education programs. However, there is a lack of knowledge regarding the appropriateness of RLOs as a part of routine patient and caregiver instruction of children with ASD. Method. A semi-structured interview/rating scale was implemented among three practicing occupational therapists to ascertain their opinions regarding six prototype RLOs related to sensory processing for caregivers of children with ASD. Results. The participants’ perspectives revealed that the SP-based prototype RLOs were a viable and valuable option to be included as a resource for parents and caregivers of children with ASD. Conclusion. The findings of this study suggest that RLOs related to SP were valuable, especially related to their subject matter, accessibility, and reusability. Furthermore, the participants indirectly identified the strengths related to the foundational concepts of RLOs and how they could be applied to other therapeutic and behavioral topics for parents and caregivers of children with ASD

Texas Instruments-Digital Signal Processor(TI-DSP)SMJ320F20 SEL Testing

This viewgraph presentation reviews the testing of the Texas Instrument Digital Signal Processor(TI-DSP)SMJ320F20. Tests were performed to screen for susceptibility to Single Event Latchup (SEL) and measure sensitivity as a function of Linear Energy Transfer (LET) for an application specific test setup. The Heavy Ion Testing of two TI-DSP SMJ320F240 devices experienced Single Event Latchup (SEL) conditions at an LET of 1.8 MeV/(mg/square cm) The devices were exposed from a fluence of 1.76 x l0(exp 3) to 5.00 x 10(exp 6) particles/square cm of the Neon, Argon and Krypton ion beams. For DI(sub DD) an average latchup current occurred at about 700mA, which is a magnitude of 10 over the nominal current of 700mA

Probing the Relation Between X-ray-Derived and Weak-Lensing-Derived Masses for Shear-Selected Galaxy Clusters: I. A781

We compare X-ray and weak-lensing masses for four galaxy clusters that comprise the top-ranked shear-selected cluster system in the Deep Lens Survey. The weak-lensing observations of this system, which is associated with A781, are from the Kitt Peak Mayall 4-m telescope, and the X-ray observations are from both Chandra and XMM-Newton. For a faithful comparison of masses, we adopt the same matter density profile for each method, which we choose to be an NFW profile. Since neither the X-ray nor weak-lensing data are deep enough to well constrain both the NFW scale radius and central density, we estimate the scale radius using a fitting function for the concentration derived from cosmological hydrodynamic simulations and an X-ray estimate of the mass assuming isothermality. We keep this scale radius in common for both X-ray and weak-lensing profiles, and fit for the central density, which scales linearly with mass. We find that for three of these clusters, there is agreement between X-ray and weak-lensing NFW central densities, and thus masses. For the other cluster, the X-ray central density is higher than that from weak-lensing by 2 sigma. X-ray images suggest that this cluster may be undergoing a merger with a smaller cluster. This work serves as an additional step towards understanding the possible biases in X-ray and weak-lensing cluster mass estimation methods. Such understanding is vital to efforts to constrain cosmology using X-ray or weak-lensing cluster surveys to trace the growth of structure over cosmic time.Comment: 14 pages, 7 figures, matches version in Ap

Developing the Potential of Observation - Generating Ideas Using Video Data From a Nursery School: a Students as Academic Partners Project

This Students as Academic Partners (SAP) project aimed to explore the potential of a creative approach to reflection. Developing approaches to reflective practice is directly relevant for a wide range of professional occupations including school teachers, early years practitioners, lecturers within HE and also trainees. Individual reflections were produced by project participants based on several very short video clips of children in a nursery school. The reflections include speculative observations, explanations and use of theoretical perspectives linked to broader themes. The analysis was extended through a collaborative reflection on the combined individual reflections. The focus on broader themes within this particular project seeks to contribute to an encompassing discourse related to early years practice

Creative Reflection in Action

This (Students as Academic Partners) project aimed to explore the potential of a creative approach to reflection. Developing approaches to reflective practice is directly relevant for teachers and those who are training to become teachers. Individual reflections were produced by project participants based on several very short video clips of children in a nursery school. These individual reflections were extended into a collaborative reflection highlighting common themes. This broader focus seeks to contribute to an encompassing discourse related to early years practice. The poster aims to show how critical reflection and speculation can develop an understanding of the child, their development and potential barriers to this development. Through observing stills from the video footage, viewers of the poster are challenged to speculate about the child’s body language, what they might be doing or whether the learning environment is suitable to develop and progress their knowledge and understanding further