1,335 research outputs found
Adenomatoid hyperplasia of palatal minor salivary glands
Adenomatoid hyperplasia of palatal minor mucous glands is rare but significant because the clinical appearance mimics malignant disease. The typical history of a painless, indolent palatal swelling, together with the histological picture of benign glandular hyperplasia and hypertrophy, are illustrated in this report
Genetic Complexity of Crohn’s Disease in Two Large Ashkenazi Jewish Families
Background & Aims
Crohn’s disease (CD) is a highly heritable disease that is particularly common in the Ashkenazi Jewish population. We studied 2 large Ashkenazi Jewish families with a high prevalence of CD in an attempt to identify novel genetic risk variants.
Methods
Ashkenazi Jewish patients with CD and a positive family history were recruited from the University College London Hospital. We used genome-wide, single-nucleotide polymorphism data to assess the burden of common CD-associated risk variants and for linkage analysis. Exome sequencing was performed and rare variants that were predicted to be deleterious and were observed at a high frequency in cases were prioritized. We undertook within-family association analysis after imputation and assessed candidate variants for evidence of association with CD in an independent cohort of Ashkenazi Jewish individuals. We examined the effects of a variant in DUOX2 on hydrogen peroxide production in HEK293 cells.
Results
We identified 2 families (1 with >800 members and 1 with >200 members) containing 54 and 26 cases of CD or colitis, respectively. Both families had a significant enrichment of previously described common CD-associated risk variants. No genome-wide significant linkage was observed. Exome sequencing identified candidate variants, including a missense mutation in DUOX2 that impaired its function and a frameshift mutation in CSF2RB that was associated with CD in an independent cohort of Ashkenazi Jewish individuals.
Conclusions
In a study of 2 large Ashkenazi Jewish with multiple cases of CD, we found the genetic basis of the disease to be complex, with a role for common and rare genetic variants. We identified a frameshift mutation in CSF2RB that was replicated in an independent cohort. These findings show the value of family studies and the importance of the innate immune system in the pathogenesis of CD
Multiscale photosynthetic exciton transfer
Photosynthetic light harvesting provides a natural blueprint for
bioengineered and biomimetic solar energy and light detection technologies.
Recent evidence suggests some individual light harvesting protein complexes
(LHCs) and LHC subunits efficiently transfer excitons towards chemical reaction
centers (RCs) via an interplay between excitonic quantum coherence, resonant
protein vibrations, and thermal decoherence. The role of coherence in vivo is
unclear however, where excitons are transferred through multi-LHC/RC aggregates
over distances typically large compared with intra-LHC scales. Here we assess
the possibility of long-range coherent transfer in a simple chromophore network
with disordered site and transfer coupling energies. Through renormalization we
find that, surprisingly, decoherence is diminished at larger scales, and
long-range coherence is facilitated by chromophoric clustering. Conversely,
static disorder in the site energies grows with length scale, forcing
localization. Our results suggest sustained coherent exciton transfer may be
possible over distances large compared with nearest-neighbour (n-n) chromophore
separations, at physiological temperatures, in a clustered network with small
static disorder. This may support findings suggesting long-range coherence in
algal chloroplasts, and provides a framework for engineering large chromophore
or quantum dot high-temperature exciton transfer networks.Comment: 9 pages, 6 figures. A significantly updated version is now published
online by Nature Physics (2012
A formally verified compiler back-end
This article describes the development and formal verification (proof of
semantic preservation) of a compiler back-end from Cminor (a simple imperative
intermediate language) to PowerPC assembly code, using the Coq proof assistant
both for programming the compiler and for proving its correctness. Such a
verified compiler is useful in the context of formal methods applied to the
certification of critical software: the verification of the compiler guarantees
that the safety properties proved on the source code hold for the executable
compiled code as well
Photoperiod Regulates Lean Mass Accretion, but Not Adiposity, in Growing F344 Rats Fed a High Fat Diet
yesIn this study the effects of photoperiod and diet, and their interaction, were examined for their effects on growth and body composition in juvenile F344 rats over a 4-week period. On long (16L:8D), relative to short (8L:16D), photoperiod food intake and growth rate were increased, but percentage adiposity remained constant (ca 3-4%). On a high fat diet (HFD), containing 22.8% fat (45% energy as fat), food intake was reduced, but energy intake increased on both photoperiods. This led to a small increase in adiposity (up to 10%) without overt change in body weight. These changes were also reflected in plasma leptin and lipid levels. Importantly while both lean and adipose tissue were strongly regulated by photoperiod on a chow diet, this regulation was lost for adipose, but not lean tissue, on HFD. This implies that a primary effect of photoperiod is the regulation of growth and lean mass accretion. Consistent with this both hypothalamic GHRH gene expression and serum IGF-1 levels were photoperiod dependent. As for other animals and humans, there was evidence of central hyposomatotropism in response to obesity, as GHRH gene expression was suppressed by the HFD. Gene expression of hypothalamic AgRP and CRH, but not NPY nor POMC, accorded with the energy balance status on long and short photoperiod. However, there was a general dissociation between plasma leptin levels and expression of these hypothalamic energy balance genes. Similarly there was no interaction between the HFD and photoperiod at the level of the genes involved in thyroid hormone metabolism (Dio2, Dio3, TSHβ or NMU), which are important mediators of the photoperiodic response. These data suggest that photoperiod and HFD influence body weight and body composition through independent mechanisms but in each case the role of the hypothalamic energy balance genes is not predictable based on their known function.Scottish Government (Rural and Environment Science and Analytical Services Division, http://www.scotland.gov.uk/), AWR LR LMT PJM and the BBSRC, (http://www.bbsrc.ac.uk/home/home.aspx, grant BB/K001043/1), AWR GH PJ
Infrastructures of empire: towards a critical geopolitics of media and information studies
The Arab Uprisings of 2011 can be seen as a turning point for media and information studies scholars, many of whom newly discovered the region as a site for theories of digital media and social transformation. This work has argued that digital media technologies fuel or transform political change through new networked publics, new forms of connective action cultivating liberal democratic values. These works have, surprisingly, little to say about the United States and other Western colonial powers’ legacy of occupation, ongoing violence and strategic interests in the region. It is as if the Arab Spring was a vindication for the universal appeal of Western liberal democracy delivered through the gift of the Internet, social media as manifestation of the ‘technologies of freedom’ long promised by Cold War. We propose an alternate trajectory in terms of reorienting discussions of media and information infrastructures as embedded within the resurgence of idealized liberal democratic norms in the wake of the end of the Cold War. We look at the demise of the media and empire debates and ‘the rise of the BRICS’ (Brazil, Russia, India, China, South Africa) as modes of intra-imperial competition that complicate earlier Eurocentric narratives media and empire. We then outline the individual contributions for the special collection of essays
Binocular summation and other forms of non-dominant eye contribution in individuals with strabismic amblyopia during habitual viewing
YesAdults with amblyopia ('lazy eye'), long-standing strabismus (ocular misalignment) or both typically do not experience visual symptoms because the signal from weaker eye is given less weight than the signal from its fellow. Here we examine the contribution of the weaker eye of individuals with strabismus and amblyopia with both eyes open and with the deviating eye in its anomalous motor position. The task consisted of a blue-on-yellow detection task along a horizontal line across the central 50 degrees of the visual field. We compare the results obtained in ten individuals with strabismic amblyopia with ten visual normals. At each field location in each participant, we examined how the sensitivity exhibited under binocular conditions compared with sensitivity from four predictions, (i) a model of binocular summation, (ii) the average of the monocular sensitivities, (iii) dominant-eye sensitivity or (iv) non-dominant-eye sensitivity. The proportion of field locations for which the binocular summation model provided the best description of binocular sensitivity was similar in normals (50.6%) and amblyopes (48.2%). Average monocular sensitivity matched binocular sensitivity in 14.1% of amblyopes' field locations compared to 8.8% of normals'. Dominant-eye sensitivity explained sensitivity at 27.1% of field locations in amblyopes but 21.2% in normals. Non-dominant-eye sensitivity explained sensitivity at 10.6% of field locations in amblyopes but 19.4% in normals. Binocular summation provided the best description of the sensitivity profile in 6/10 amblyopes compared to 7/10 of normals. In three amblyopes, dominant-eye sensitivity most closely reflected binocular sensitivity (compared to two normals) and in the remaining amblyope, binocular sensitivity approximated to an average of the monocular sensitivities. Our results suggest a strong positive contribution in habitual viewing from the non-dominant eye in strabismic amblyopes. This is consistent with evidence from other sources that binocular mechanisms are frequently intact in strabismic and amblyopic individuals
Up, close and personal: the new Front National visual strategy under Marine Le Pen
Extensive analyses of Marine Le Pen’s media interventions as leader of the French Front National have revealed mostly rhetorical differences from her father’s discourse. In particular, despite Marine Le Pen’s professed openness toward women and their policy concerns, and despite her professed intention to transform the FN into party suitable for government, there has been little progress in these directions. However, the FN’s visual discourse has been all but ignored by the scholarly analysis, despite the fact that campaign visuals encode significant social and political information. This paper finds that the FN candidates’ visual presentation has undergone major transformations from the 2007 to the 2012 legislative elections. Specifically FN candidates in 2012 are more likely to visually portray themselves like mainstream party candidates. Compared to the 2007 elections, women candidates, in particular, were more likely to visually promote their personal qualities in 2012, in some respects more than 2012 men candidates
A Limited Role for Suppression in the Central Field of Individuals with Strabismic Amblyopia.
yesBackground: Although their eyes are pointing in different directions, people with long-standing strabismic amblyopia
typically do not experience double-vision or indeed any visual symptoms arising from their condition. It is generally
believed that the phenomenon of suppression plays a major role in dealing with the consequences of amblyopia and
strabismus, by preventing images from the weaker/deviating eye from reaching conscious awareness. Suppression is thus a
highly sophisticated coping mechanism. Although suppression has been studied for over 100 years the literature is
equivocal in relation to the extent of the retina that is suppressed, though the method used to investigate suppression is
crucial to the outcome. There is growing evidence that some measurement methods lead to artefactual claims that
suppression exists when it does not.
Methodology/Results: Here we present the results of an experiment conducted with a new method to examine the
prevalence, depth and extent of suppression in ten individuals with strabismic amblyopia. Seven subjects (70%) showed no
evidence whatsoever for suppression and in the three individuals who did (30%), the depth and extent of suppression was
small.
Conclusions: Suppression may play a much smaller role in dealing with the negative consequences of strabismic amblyopia
than previously thought. Whereas recent claims of this nature have been made only in those with micro-strabismus our
results show extremely limited evidence for suppression across the central visual field in strabismic amblyopes more
generally. Instead of suppressing the image from the weaker/deviating eye, we suggest the visual system of individuals with
strabismic amblyopia may act to maximise the possibilities for binocular co-operation. This is consistent with recent
evidence from strabismic and amblyopic individuals that their binocular mechanisms are intact, and that, just as in visual
normals, performance with two eyes is better than with the better eye alone in these individuals
Integrating isotopes and documentary evidence : dietary patterns in a late medieval and early modern mining community, Sweden
We would like to thank the Archaeological Research Laboratory, Stockholm University, Sweden and the Tandem Laboratory (Ångström Laboratory), Uppsala University, Sweden, for undertaking the analyses of stable nitrogen and carbon isotopes in both human and animal collagen samples. Also, thanks to Elin Ahlin Sundman for providing the δ13C and δ15N values for animal references from Västerås. This research (Bäckström’s PhD employment at Lund University, Sweden) was supported by the Berit Wallenberg Foundation (BWS 2010.0176) and Jakob and Johan Söderberg’s foundation. The ‘Sala project’ (excavations and analyses) has been funded by Riksens Clenodium, Jernkontoret, Birgit and Gad Rausing’s Foundation, SAU’s Research Foundation, the Royal Physiographic Society of Lund, Berit Wallenbergs Foundation, Åke Wibergs Foundation, Lars Hiertas Memory, Helge Ax:son Johnson’s Foundation and The Royal Swedish Academy of Sciences.Peer reviewedPublisher PD
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