Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment

BACKGROUND: Thirty-nine patients have been described with deletions involving chromosome 6p25. However, relatively few of these deletions have had molecular characterization. Common phenotypes of 6p25 deletion syndrome patients include hydrocephalus, hearing loss, and ocular, craniofacial, skeletal, cardiac, and renal malformations. Molecular characterization of deletions can identify genes that are responsible for these phenotypes. METHODS: We report the clinical phenotype of seven patients with terminal deletions of chromosome 6p25 and compare them to previously reported patients. Molecular characterization of the deletions was performed using polymorphic marker analysis to determine the extents of the deletions in these seven 6p25 deletion syndrome patients. RESULTS: Our results, and previous data, show that ocular dysgenesis and hearing impairment are the two most highly penetrant phenotypes of the 6p25 deletion syndrome. While deletion of the forkhead box C1 gene (FOXC1) probably underlies the ocular dysgenesis, no gene in this region is known to be involved in hearing impairment. CONCLUSIONS: Ocular dysgenesis and hearing impairment are the two most common phenotypes of 6p25 deletion syndrome. We conclude that a locus for dominant hearing loss is present at 6p25 and that this locus is restricted to a region distal to D6S1617. Molecular characterization of more 6p25 deletion patients will aid in refinement of this locus and the identification of a gene involved in dominant hearing loss

Seasonal evolution of supraglacial lakes on a floating ice tongue, Petermann Glacier, Greenland

ABSTRACTSupraglacial lakes are known to trigger Antarctic ice-shelf instability and break-up. However, to date, no study has focused on lakes on Greenland's floating termini. Here, we apply lake boundary/area and depth algorithms to Landsat 8 imagery to analyse the inter- and intraseasonal evolution of supraglacial lakes across Petermann Glacier's (81°N) floating tongue from 2014 to 2016, while also comparing these lakes to those on the grounded ice. Lakes start to fill in June and quickly peak in total number, volume and area in late June/early July in response to increases in air temperatures. However, through July and August, total lake number, volume and area all decline, despite sustained high temperatures. These observations may be explained by the transportation of meltwater into the ocean by a river, and by lake drainage events on the floating tongue. Further, as mean lake depth remains relatively constant during this time, we suggest that a large proportion of the lakes that drain, do so completely, likely by rapid hydrofracture. The mean areas of lakes on the tongue are only ~20% of those on the grounded ice and exhibit lower variability in maximum and mean depth, differences likely attributable to the contrasting formation processes of lakes in each environment.</jats:p

In-street wind direction variability in the vicinity of a busy intersection in central London

We present results from fast-response wind measurements within and above a busy intersection between two street canyons (Marylebone Road and Gloucester Place) in Westminster, London taken as part of the DAPPLE (Dispersion of Air Pollution and Penetration into the Local Environment; www.dapple.org.uk) 2007 field campaign. The data reported here were collected using ultrasonic anemometers on the roof-top of a building adjacent to the intersection and at two heights on a pair of lamp-posts on opposite sides of the intersection. Site characteristics, data analysis and the variation of intersection flow with the above-roof wind direction (θref) are discussed. Evidence of both flow channelling and recirculation was identified within the canyon, only a few metres from the intersection for along-street and across-street roof-top winds respectively. Results also indicate that for oblique rooftop flows, the intersection flow is a complex combination of bifurcated channelled flows, recirculation and corner vortices. Asymmetries in local building geometry around the intersection and small changes in the background wind direction (changes in 15-min mean θref of 5–10 degrees) were also observed to have profound influences on the behaviour of intersection flow patterns. Consequently, short time-scale variability in the background flow direction can lead to highly scattered in-street mean flow angles masking the true multi-modal features of the flow and thus further complicating modelling challenges

Effect of temperature anisotropy on various modes and instabilities for a magnetized non-relativistic bi-Maxwellian plasma

Using kinetic theory for homogeneous collisionless magnetized plasmas, we present an extended review of the plasma waves and instabilities and discuss the anisotropic response of generalized relativistic dielectric tensor and Onsager symmetry properties for arbitrary distribution functions. In general, we observe that for such plasmas only those electromagnetic modes whose magnetic field perturbations are perpendicular to the ambient magneticeld, i.e.,B1 \perp B0, are effected by the anisotropy. However, in oblique propagation all modes do show such anisotropic effects. Considering the non-relativistic bi-Maxwellian distribution and studying the relevant components of the general dielectric tensor under appropriate conditions, we derive the dispersion relations for various modes and instabilities. We show that only the electromagnetic R- and L- waves, those derived from them and the O-mode are affected by thermal anisotropies, since they satisfy the required condition B1\perpB0. By contrast, the perpendicularly propagating X-mode and the modes derived from it (the pure transverse X-mode and Bernstein mode) show no such effect. In general, we note that the thermal anisotropy modifies the parallel propagating modes via the parallel acoustic effect, while it modifies the perpendicular propagating modes via the Larmor-radius effect. In oblique propagation for kinetic Alfven waves, the thermal anisotropy affects the kinetic regime more than it affects the inertial regime. The generalized fast mode exhibits two distinct acoustic effects, one in the direction parallel to the ambient magnetic field and the other in the direction perpendicular to it. In the fast-mode instability, the magneto-sonic wave causes suppression of the firehose instability. We discuss all these propagation characteristics and present graphic illustrations

Assessment of multispectral and hyperspectral imaging systems for digitisation of a Russian icon

In a study of multispectral and hyperspectral reflectance imaging, a Round Robin Test assessed the performance of different systems for the spectral digitisation of artworks. A Russian icon, mass-produced in Moscow in 1899, was digitised by ten institutions around Europe. The image quality was assessed by observers, and the reflectance spectra at selected points were reconstructed to characterise the icon’s colourants and to obtain a quantitative estimate of accuracy. The differing spatial resolutions of the systems affected their ability to resolve fine details in the printed pattern. There was a surprisingly wide variation in the quality of imagery, caused by unwanted reflections from both glossy painted and metallic gold areas of the icon’s surface. Specular reflection also degraded the accuracy of the reconstructed reflectance spectrum in some places, indicating the importance of control over the illumination geometry. Some devices that gave excellent results for matte colour charts proved to have poor performance for this demanding test object. There is a need for adoption of standards for digitising cultural heritage objects to achieve greater consistency of system performance and image quality.This article arose out of a Short-Term Scientific Mission (STSM) conducted by Tatiana Vitorino when visiting University College London during a 2-week period in late October 2015. The research was carried out under the auspices of the European COST Action TD1201 Colour and Space in Cultural Heritage (COSCH). The project website is at http://www.cosch.info. Under the COST rules, TV received funding for travel and accommodation expenses, and all coauthors were able to claim travel expenses to attend the subsequent COSCH project meeting. No other funding was received from COSCH for labour or equipment and all work was done on a voluntary pro bono basis.info:eu-repo/semantics/publishedVersio

Disease acceptance and adherence to imatinib in Taiwanese chronic myeloid leukaemia outpatients

Background The launch of imatinib has turned chronic myeloid leukaemia (CML) into a chronic illness due to the dramatic improvement in survival. Several recent studies have demonstrated that poor adherence to imatinib may hamper the therapeutic outcomes and result in increased medical expenditures, whilst research on exploring the reasons for non-adherence to imatinib is still limited. Objective This study aimed to explore the experience of patients as they journey through their CML treatments and associated imatinib utilisation in order to understand the perceptions, attitudes and concerns that may influence adherence to imatinib treatment. Setting This study was conducted at oncology outpatient clinics in a medical centre in southern Taiwan. Methods CML patients who regularly attended the oncology outpatient clinics to receive imatinib treatment from October 2011 to March 2012 were invited to participate in the study. Semi-structured face-to-face interviews were used to explore patients’ experiences and views of their treatment, their current CML status and CML-related health conditions, their concerns about imatinib treatment and imatinib-taking behaviours. Patient interviews were recorded, transcribed verbatim and thematically analysed using the constant comparison approach. Main outcome measure Themes related to patients’ views of the disease and health conditions, worries and concerns influencing imatinib utilisation behaviours are reported. Results Forty-two CML patients participated in the interviews. The emerging themes included: acceptance of current disease and health status, misconceptions about disease progression, factors associated with adherence to imatinib, concerns and management of adverse drug effects. Participants regarded CML as a chronic disease but had misconceptions about disease progression, therapeutic monitoring, resistance to imatinib and symptoms of side effects. Participants were generally adherent to imatinib and favoured long-term prescriptions to avoid regular outpatient visits for medication refills. Experiencing adverse effect was the main reason influencing adherence and led to polypharmacy. Most participants altered medicine-taking behaviours to maintain long-term use of imatinib. Conclusion Taiwanese CML patients are adherent to imatinib but report changing their medication-taking behaviour due to adverse drug effects and associated polypharmacy. Patients’ misconceptions of the disease and medication suggests that it is necessary to improve communication between patients and healthcare professionals. Routinely providing updated information as part of the patient counselling process should be considered as a means of improving this communication

Formation of pedestalled, relict lakes on the McMurdo Ice Shelf, Antarctica

ABSTRACTSurface debris covers much of the western portion of the McMurdo Ice Shelf and has a strong influence on the local surface albedo and energy balance. Differential ablation between debris-covered and debris-free areas creates an unusual heterogeneous surface of topographically low, high-ablation, and topographically raised (‘pedestalled’), low-ablation areas. Analysis of Landsat and MODIS satellite imagery from 1999 to 2018, alongside field observations from the 2016/2017 austral summer, shows that pedestalled relict lakes (‘pedestals’) form when an active surface meltwater lake that develops in the summer, freezes-over in winter, resulting in the lake-bottom debris being masked by a high-albedo, superimposed, ice surface. If this ice surface fails to melt during a subsequent melt season, it experiences reduced surface ablation relative to the surrounding debris-covered areas of the ice shelf. We propose that this differential ablation, and resultant hydrostatic and flexural readjustments of the ice shelf, causes the former supraglacial lake surface to become increasingly pedestalled above the lower topography of the surrounding ice shelf. Consequently, meltwater streams cannot flow onto these pedestalled features, and instead divert around them. We suggest that the development of pedestals has a significant influence on the surface-energy balance, hydrology and flexure of the ice shelf.Ia

Search for new phenomena in final states with an energetic jet and large missing transverse momentum in pp collisions at √ s = 8 TeV with the ATLAS detector

Results of a search for new phenomena in final states with an energetic jet and large missing transverse momentum are reported. The search uses 20.3 fb−1 of √ s = 8 TeV data collected in 2012 with the ATLAS detector at the LHC. Events are required to have at least one jet with pT > 120 GeV and no leptons. Nine signal regions are considered with increasing missing transverse momentum requirements between Emiss T > 150 GeV and Emiss T > 700 GeV. Good agreement is observed between the number of events in data and Standard Model expectations. The results are translated into exclusion limits on models with either large extra spatial dimensions, pair production of weakly interacting dark matter candidates, or production of very light gravitinos in a gauge-mediated supersymmetric model. In addition, limits on the production of an invisibly decaying Higgs-like boson leading to similar topologies in the final state are presente

Diurnal seismicity cycle linked to subsurface melting on an ice shelf

ABSTRACTSeismograms acquired on the McMurdo Ice Shelf, Antarctica, during an Austral summer melt season (November 2016–January 2017) reveal a diurnal cycle of seismicity, consisting of hundreds of thousands of small ice quakes limited to a 6–12 hour period during the evening, in an area where there is substantial subsurface melting. This cycle is explained by thermally induced bending and fracture of a frozen surface superimposed on a subsurface slush/water layer that is supported by solar radiation penetration and absorption. A simple, one-dimensional model of heat transfer driven by observed surface air temperature and shortwave absorption reproduces the presence and absence (as daily weather dictated) of the observed diurnal seismicity cycle. Seismic event statistics comparing event occurrence with amplitude suggest that the events are generated in a fractured medium featuring relatively low stresses, as is consistent with a frozen surface superimposed on subsurface slush. Waveforms of the icequakes are consistent with hydroacoustic phases at frequency ${\bf \gt} \bf 75\,{\bf Hz}$ and flexural-gravity waves at frequency $\bf {\bf \lt}25\,{\bf Hz}$. Our results suggest that seismic observation may prove useful in monitoring subsurface melting in a manner that complements other ground-based methods as well as remote sensing.</jats:p

Angular and Current-Target Correlations in Deep Inelastic Scattering at HERA

Correlations between charged particles in deep inelastic ep scattering have been studied in the Breit frame with the ZEUS detector at HERA using an integrated luminosity of 6.4 pb-1. Short-range correlations are analysed in terms of the angular separation between current-region particles within a cone centred around the virtual photon axis. Long-range correlations between the current and target regions have also been measured. The data support predictions for the scaling behaviour of the angular correlations at high Q2 and for anti-correlations between the current and target regions over a large range in Q2 and in the Bjorken scaling variable x. Analytic QCD calculations and Monte Carlo models correctly describe the trends of the data at high Q2, but show quantitative discrepancies. The data show differences between the correlations in deep inelastic scattering and e+e- annihilation.Comment: 26 pages including 10 figures (submitted to Eur. J. Phys. C