36,246 research outputs found
CNV and nervous system diseases - what's new?
Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified. Dup(7)(q11.23) patients carry duplications of the genomic region deleted in Williams-Beuren syndrome, they are characterized by prominent speech delay. The phenotypes of Potocki-Lupski syndrome and MECP2 duplication syndrome were neuropsychologically examined in detail, which revealed autism as an endophenotype and a prominent behavioral feature of these disorders. Tandem duplication of LMNB1 was reported to cause adult-onset autosomal dominant leukodystrophy. PAFAH1B1/LIS1 and YWHAE, which were deleted in isolated lissencephaly (PAFAH1B1/LIS1 alone) and Miller-Dieker syndrome (both genes), were found to be duplicated in patients with developmental delay. Finally, two novel microdeletion syndromes affecting 17q21.31 and 15q13.3, as well as their reciprocal duplications, were also identified. In this review, we provide an overview of the phenotypic manifestation of these syndromes and the rearrangements causing them. Copyright (C) 2009 S. Karger AG, Base
Joint effect of lattice interaction and potential fluctuation in colossal magnetoresistive manganites
Taking into account both the Jahn-Teller lattice distortion and the on-site
electronic potential fluctuations in the orbital-degenerated double-exchange
model, in which both the core-spin and the lattice distortion are treated
classically, we investigate theoretically the metal-insulator transition (MIT)
in manganites by considering the electronic localization effect. An inverse
matrix method is developed for calculation in which we use the inverse of the
transfer matrix to obtain the localization length. We find that within
reasonable range of parameters, both the lattice effect and the potential
fluctuation are responsible to the occurrence of the MIT. The role of the
orbital configuration is also discussed.Comment: 4 figure
Fast Monte Carlo Simulation for Patient-specific CT/CBCT Imaging Dose Calculation
Recently, X-ray imaging dose from computed tomography (CT) or cone beam CT
(CBCT) scans has become a serious concern. Patient-specific imaging dose
calculation has been proposed for the purpose of dose management. While Monte
Carlo (MC) dose calculation can be quite accurate for this purpose, it suffers
from low computational efficiency. In response to this problem, we have
successfully developed a MC dose calculation package, gCTD, on GPU architecture
under the NVIDIA CUDA platform for fast and accurate estimation of the x-ray
imaging dose received by a patient during a CT or CBCT scan. Techniques have
been developed particularly for the GPU architecture to achieve high
computational efficiency. Dose calculations using CBCT scanning geometry in a
homogeneous water phantom and a heterogeneous Zubal head phantom have shown
good agreement between gCTD and EGSnrc, indicating the accuracy of our code. In
terms of improved efficiency, it is found that gCTD attains a speed-up of ~400
times in the homogeneous water phantom and ~76.6 times in the Zubal phantom
compared to EGSnrc. As for absolute computation time, imaging dose calculation
for the Zubal phantom can be accomplished in ~17 sec with the average relative
standard deviation of 0.4%. Though our gCTD code has been developed and tested
in the context of CBCT scans, with simple modification of geometry it can be
used for assessing imaging dose in CT scans as well.Comment: 18 pages, 7 figures, and 1 tabl
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'BioNessie(G) - a grid enabled biochemical networks simulation environment
The simulation of biochemical networks provides insight and
understanding about the underlying biochemical processes and pathways
used by cells and organisms. BioNessie is a biochemical network simulator
which has been developed at the University of Glasgow. This paper
describes the simulator and focuses in particular on how it has been
extended to benefit from a wide variety of high performance compute resources
across the UK through Grid technologies to support larger scale
simulations
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