Coexistence of supravalvular aortic stenosis and osteogenesis imperfecta.

A 54 year old woman was admitted for cardiac catheterisation. She had-been attending the outpatient clinic since 1975, with regular review. She had diagnoses of type I osteogenesis imperfecta, and of supravalvular aortic stenosis. Osteogenesis imperfecta was diagnosed in early life on clinical grounds including the presence of blue sclerae and the occurrence of several bone fractures secondary to minimal trauma. A number of family members have been diagnosed with the same condition (figure 1-family pedigree). The supravalvular aortic stenosis was not diagnosed until later. She was initially referred to the cardiology clinic for further evaluation following the discovery of a systolic murmu

Lack of MEF2A Δ7aa mutation in Irish families with early onset ischaemic heart disease, a family based study

BACKGROUND: Ischaemic heart disease (IHD) is a complex disease due to the combination of environmental and genetic factors. Mutations in the MEF2A gene have recently been reported in patients with IHD. In particular, a 21 base pair deletion (Δ7aa) in the MEF2A gene was identified in a family with an autosomal dominant pattern of inheritance of IHD. We investigated this region of the MEF2A gene using an Irish family-based study, where affected individuals had early-onset IHD. METHODS: A total of 1494 individuals from 580 families were included (800 discordant sib-pairs and 64 parent-child trios). The Δ7aa region of the MEF2A gene was investigated based on amplicon size. RESULTS: The Δ7aa mutation was not detected in any individual. Variation in the number of CAG (glutamate) and CCG (proline) residues was detected in a nearby region. However, this was not found to be associated with IHD. CONCLUSION: The Δ7aa mutation was not detected in any individual within the study population and is unlikely to play a significant role in the development of IHD in Ireland. Using family-based tests of association the number of tri-nucleotide repeats in a nearby region of the MEF2A gene was not associated with IHD in our study group

Testing for Spatial Neglect with Line Bisection and Target Cancellation: Are Both Tasks Really Unrelated?

Damage to the parietal lobe can induce a condition known as spatial neglect, characterized by a lack of awareness of the personal and/or extrapersonal space opposite the damaged brain region. Spatial neglect is commonly assessed clinically using either the line bisection or the target cancellation task. However, it is unclear whether poor performance on each of these two tasks is associated with the same or different lesion locations. To date, methodological limitations and differences have prevented a definitive link between task performance and lesion location to be made. Here we report findings from a voxel-based lesion symptom mapping (VLSM) analysis of an unbiased selection of 44 patients with a recent unifocal stroke. Patients performed both the line bisection and target cancellation task. For each of the two tasks a continuous score was incorporated into the VLSM analysis. Both tasks correlated highly with each other (r = .76) and VLSM analyses indicated that the angular gyrus was the critical lesion site for both tasks. The results suggest that both tasks probe the same underlying cortical deficits and although the cancellation task was more sensitive than the line bisection task, both can be used in a clinical setting to test for spatial neglect

Systematic mechanical assessment of consolidants for canvas reinforcement under controlled environment

In conservation, adhesives are commonly used for the consolidation of canvases, yet their impact upon the canvas longevity has raised some concerns amongst conservators. As such, this study presents a testing protocol developed to assess the performance of commonly-used adhesives (natural animal glue and synthetic Beva® 371) and a newly developed nanocellulose consolidant, nanofibrillated nanocellulose (CNF). This includes their effect on the visual appearance, consolidation, and response of the mechanical properties of the treated canvases to programmed changes in relative humidity (RH). Scanning electron microscopy (SEM) images of animal glue- and Beva® 371-treated canvases revealed the presence of adhesive and consolidant on and in-between cotton fibres. The consolidants form bridges linking and connecting the cotton fibres and holding them together, whereas the CNF treatment, formed a visible continuous and dense surface coating. None of the treatments induced any discernible colour change. Controlled environment mechanical testing was performed in two ways: by applying a linearly increasing static force at fixed RH (Young’s modulus) and by applying a dynamic force together with a programmed RH cycling between 20 and 80% (RH dependent viscoelastic properties). CNF gave a higher value of Young’s modulus than either of the two commonly-used materials. Measurements at different values of RH (20 and 80%) demonstrated for all the treated canvases that at the lower value (RH 20%) Young’s modulus values were higher than at the higher value (RH 80%). Besides, the dynamic mode showed that the rate of response in all cases was rapid and reversible and that the nanofibrillated cellulose treated sample showed the highest variation in storage (or elastic) modulus measured at the end of RH plateaux (20 and 80% RH). Thus CNF appears to be a promising material given its higher mechanical performance. The protocol developed in this study has enabled us to examine and compare candidate materials for the consolidation of canvases systematically, using testing parameters that remained relevant to the field of canvas conservation

Systematic study of charged-pion and kaon femtoscopy in Au++Au collisions at sNN\sqrt{s_{_{NN}}}=200 GeV

We present a systematic study of charged pion and kaon interferometry in Au$+$Au collisions at $\sqrt{s_{_{NN}}}$=200 GeV. The kaon mean source radii are found to be larger than pion radii in the outward and longitudinal directions for the same transverse mass; this difference increases for more central collisions. The azimuthal-angle dependence of the radii was measured with respect to the second-order event plane and similar oscillations of the source radii were found for pions and kaons. Hydrodynamic models qualitatively describe the similar oscillations of the mean source radii for pions and kaons, but they do not fully describe the transverse-mass dependence of the oscillations.Comment: 499 authors, 27 pages, 13 figures, and 11 tables. v2 is the version accepted for publication in Phys. Rev. C. Plain text data tables for the points plotted in figures for this and previous PHENIX publications are (or will be) publicly available at http://www.phenix.bnl.gov/papers.htm