3,624 research outputs found
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Childhood-onset Leber hereditary optic neuropathy
BACKGROUND: The onset of Leber hereditary optic neuropathy (LHON) is relatively rare in childhood. This study describes the clinical and molecular genetic features observed in this specific LHON subgroup. METHODS: Our retrospective study consisted of a UK paediatric LHON cohort of 27 patients and 69 additional cases identified from a systematic review of the literature. Patients were included if visual loss occurred at the age of 12 years or younger with a confirmed pathogenic mitochondrial DNA mutation: m.3460G>A, m.11778G>A or m.14484T>C. RESULTS: In the UK paediatric LHON cohort, three patterns of visual loss and progression were observed: (1) classical acute (17/27, 63%); (2) slowly progressive (4/27, 15%); and (3) insidious or subclinical (6/27, 22%). Diagnostic delays of 3-15 years occurred in children with an insidious mode of onset. Spontaneous visual recovery was more common in patients carrying the m.3460G>A and m.14484T>C mutations compared with the m.11778G>A mutation. Based a meta-analysis of 67 patients with available visual acuity data, 26 (39%) patients achieved a final best-corrected visual acuity (BCVA) ≥0.5 Snellen decimal in at least one eye, whereas 13 (19%) patients had a final BCVA <0.05 in their better seeing eye. CONCLUSIONS: Although childhood-onset LHON carries a relatively better visual prognosis, approximately 1 in 5 patients will remain within the visual acuity criteria for legal blindness in the UK. The clinical presentation can be insidious and LHON should be considered in the differential diagnosis when faced with a child with unexplained subnormal vision and optic disc pallor
A bayesian meta-analysis of multiple treatment comparisons of systemic regimens for advanced pancreatic cancer
© 2014 Chan et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.Background: For advanced pancreatic cancer, many regimens have been compared with gemcitabine (G) as the standard arm in randomized controlled trials. Few regimens have been directly compared with each other in randomized controlled trials and the relative efficacy and safety among them remains unclear
Behr’s Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene
Bjorken Flow, Plasma Instabilities, and Thermalization
At asymptotically high energies, thermalization in heavy ion collisions can
be described via weak-coupling QCD. We present a complete treatment of how
thermalization proceeds, at the parametric weak-coupling level. We show that
plasma instabilities dominate the dynamics, from immediately after the
collision until well after the plasma becomes nearly in equilibrium. Initially
they drive the system close to isotropy, but Bjorken expansion and increasing
diluteness makes the system again become more anisotropic. At time \tau ~
\alpha^(-12/5) Q^(-1) the dynamics become dominated by a nearly-thermal bath;
and at time \tau ~ \alpha^(-5/2) Q^(-1)$ the bath comes to dominate the energy
density, completing thermalization. After this time there is a nearly isotropic
and thermal Quark-Gluon Plasma.Comment: 22 pages, 5 figure
Pleosporales
One hundred and five generic types of Pleosporales are described and illustrated. A brief introduction and detailed history with short notes on morphology, molecular phylogeny as well as a general conclusion of each genus are provided. For those genera where the type or a representative specimen is unavailable, a brief note is given. Altogether 174 genera of Pleosporales are treated. Phaeotrichaceae as well as Kriegeriella, Zeuctomorpha and Muroia are excluded from Pleosporales. Based on the multigene phylogenetic analysis, the suborder Massarineae is emended to accommodate five families, viz. Lentitheciaceae, Massarinaceae, Montagnulaceae, Morosphaeriaceae and Trematosphaeriaceae
Measurement of the B0 anti-B0 oscillation frequency using l- D*+ pairs and lepton flavor tags
The oscillation frequency Delta-md of B0 anti-B0 mixing is measured using the
partially reconstructed semileptonic decay anti-B0 -> l- nubar D*+ X. The data
sample was collected with the CDF detector at the Fermilab Tevatron collider
during 1992 - 1995 by triggering on the existence of two lepton candidates in
an event, and corresponds to about 110 pb-1 of pbar p collisions at sqrt(s) =
1.8 TeV. We estimate the proper decay time of the anti-B0 meson from the
measured decay length and reconstructed momentum of the l- D*+ system. The
charge of the lepton in the final state identifies the flavor of the anti-B0
meson at its decay. The second lepton in the event is used to infer the flavor
of the anti-B0 meson at production. We measure the oscillation frequency to be
Delta-md = 0.516 +/- 0.099 +0.029 -0.035 ps-1, where the first uncertainty is
statistical and the second is systematic.Comment: 30 pages, 7 figures. Submitted to Physical Review
Search for Second-Generation Scalar Leptoquarks in Collisions at =1.96 TeV
Results on a search for pair production of second generation scalar
leptoquark in collisions at =1.96 TeV are reported. The
data analyzed were collected by the CDF detector during the 2002-2003 Tevatron
Run II and correspond to an integrated luminosity of 198 pb. Leptoquarks
(LQ) are sought through their decay into (charged) leptons and quarks, with
final state signatures represented by two muons and jets and one muon, large
transverse missing energy and jets. We observe no evidence for production
and derive 95% C.L. upper limits on the production cross sections as well
as lower limits on their mass as a function of , where is the
branching fraction for .Comment: 9 pages (3 author list) 5 figure
Effective Dark Matter Model: Relic density, CDMS II, Fermi LAT and LHC
The Cryogenic Dark Matter Search recently announced the observation of two
signal events with a 77% confidence level. Although statistically inconclusive,
it is nevertheless suggestive. In this work we present a model-independent
analysis on the implication of a positive signal in dark matter scattering off
nuclei. Assuming the interaction between (scalar, fermion or vector) dark
matter and the standard model induced by unknown new physics at the scale
, we examine various dimension-6 tree-level induced operators and
constrain them using the current experimental data, e.g. the WMAP data of the
relic abundance, CDMS II direct detection of the spin-independent scattering,
and indirect detection data (Fermi LAT cosmic gamma-ray), etc. Finally, the LHC
reach is also explored
Measurement of CP-violation asymmetries in D0 to Ks pi+ pi-
We report a measurement of time-integrated CP-violation asymmetries in the
resonant substructure of the three-body decay D0 to Ks pi+ pi- using CDF II
data corresponding to 6.0 invfb of integrated luminosity from Tevatron ppbar
collisions at sqrt(s) = 1.96 TeV. The charm mesons used in this analysis come
from D*+(2010) to D0 pi+ and D*-(2010) to D0bar pi-, where the production
flavor of the charm meson is determined by the charge of the accompanying pion.
We apply a Dalitz-amplitude analysis for the description of the dynamic decay
structure and use two complementary approaches, namely a full Dalitz-plot fit
employing the isobar model for the contributing resonances and a
model-independent bin-by-bin comparison of the D0 and D0bar Dalitz plots. We
find no CP-violation effects and measure an asymmetry of ACP = (-0.05 +- 0.57
(stat) +- 0.54 (syst))% for the overall integrated CP-violation asymmetry,
consistent with the standard model prediction.Comment: 15 page
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