2,034 research outputs found
Tapasin gene polymorphism in systemic onset juvenile rheumatoid arthritis: a family-based case-control study
Juvenile rheumatoid arthritis (JRA) comprises a group of chronic systemic inflammatory disorders that primarily affect joints and can cause long-term disability. JRA is likely to be a complex genetic trait, or a series of such traits, with both genetic and environmental factors contributing to the risk for developing the disease and to its progression. The HLA region on the short arm of chromosome 6 has been intensively evaluated for genetic contributors to JRA, and multiple associations, and more recently linkage, has been detected. Other genes involved in innate and acquired immunity also map to near the HLA cluster on 6p, and it is possible that variation within these genes also confers risk for developing JRA. We examined the TPSN gene, which encodes tapasin, an endoplasmic reticulum chaperone that is involved in antigen processing, to elucidate its involvement, if any, in JRA. We employed both a case-control approach and the transmission disequilibrium test, and found linkage and association between the TPSN allele (Arg260) and the systemic onset subtype of JRA. Two independent JRA cohorts were used, one recruited from the Rheumatology Clinic at Cincinnati Children's Hospital Medical Center (82 simplex families) and one collected by the British Paediatric Rheumatology Group in London, England (74 simplex families). The transmission disequilibrium test for these cohorts combined was statistically significant (chi(2) = 4.2, one degree of freedom; P = 0.04). Linkage disequilibrium testing between the HLA alleles that are known to be associated with systemic onset JRA did not reveal linkage disequilibrium with the Arg260 allele, either in the Cincinnati systemic onset JRA cohort or in 113 Caucasian healthy individuals. These results suggest that there is a weak association between systemic onset JRA and the TPSN polymorphism, possibly due to linkage disequilibrium with an as yet unknown susceptibility allele in the centromeric part of chromosome 6
Conditional control of the quantum states of remote atomic memories for quantum networking
Quantum networks hold the promise for revolutionary advances in information
processing with quantum resources distributed over remote locations via
quantum-repeater architectures. Quantum networks are composed of nodes for
storing and processing quantum states, and of channels for transmitting states
between them. The scalability of such networks relies critically on the ability
to perform conditional operations on states stored in separated quantum
memories. Here we report the first implementation of such conditional control
of two atomic memories, located in distinct apparatuses, which results in a
28-fold increase of the probability of simultaneously obtaining a pair of
single photons, relative to the case without conditional control. As a first
application, we demonstrate a high degree of indistinguishability for remotely
generated single photons by the observation of destructive interference of
their wavepackets. Our results demonstrate experimentally a basic principle for
enabling scalable quantum networks, with applications as well to linear optics
quantum computation.Comment: 10 pages, 8 figures; Minor corrections. References updated. Published
at Nature Physics 2, Advanced Online Publication of 10/29 (2006
Highly Differentiated Human Fetal RPE Cultures Are Resistant to the Accumulation and Toxicity of Lipofuscin-Like Material
PURPOSE. The accumulation of undigestible autofluorescent material (UAM), termed lipofuscin
in vivo, is a hallmark of aged RPE. Lipofuscin derives, in part, from the incomplete degradation
of phagocytized photoreceptor outer segments (OS). Whether this accumulated waste is toxic
is unclear. We therefore investigated the effects of UAM in highly differentiated human fetal
RPE (hfRPE) cultures.
METHODS. Unmodified and photo-oxidized OS were fed daily to confluent cultures of ARPE-19
RPE or hfRPE. The emission spectrum, composition, and morphology of resulting UAM were
measured and compared to in vivo lipofuscin. Effects of UAM on multiple RPE phenotypes
were assessed.
RESULTS. Compared to ARPE-19, hfRPE were markedly less susceptible to UAM buildup.
Accumulated UAM in hfRPE initially resembled the morphology of lipofuscin from AMD eyes,
but compacted and shifted spectrum over time to resemble lipofuscin from healthy aged
human RPE. UAM accumulation mildly reduced transepithelial electrical resistance,
ketogenesis, certain RPE differentiation markers, and phagocytosis efficiency, while inducing
senescence and rare, focal pockets of epithelial-mesenchymal transition. However, it had no
effects on mitochondrial oxygen consumption rate, certain other RPE differentiation markers,
secretion of drusen components or polarity markers, nor cell death.
CONCLUSIONS. hfRPE demonstrates a remarkable resistance to UAM accumulation, suggesting
mechanisms for efficient OS processing that may be lost in other RPE culture models.
Furthermore, while UAM alters hfRPE phenotype, the effects are modest, consistent with
conflicting reports in the literature on the toxicity of lipofuscin. Our results suggest that
healthy RPE may adequately adapt to and tolerate lipofuscin accumulation
Primary cutaneous melanoma of the breast: A case report
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Background: Primary cutaneous melanoma of the breast is a very rare tumour, accounting for < 5 % of all malignant melanomas. Case presentation: A young lady was seen in the breast clinic for a skin lesion in the right breast. Clinical examination and investigations confirmed a diagnosis of a primary cutaneous melanoma of the breast. The lesion was excised and the patient made good recovery. She has shown no signs of local recurrence and is under regular follow-up in the dermatology clinic. Conclusion: This case is educational as it shows that the treatment of breast cutaneous melanoma is similar to that for any skin parts with surgery remaining the main therapeutic option. It also shows that mastectomy is unnecessary as it does not improve the results obtained by wide local excision of melanoma. Background Primary cutaneous melanoma rarely affects the breast, accounting for less than 5 % of all malignant melanomas
Mapping photonic entanglement into and out of a quantum memory
Recent developments of quantum information science critically rely on
entanglement, an intriguing aspect of quantum mechanics where parts of a
composite system can exhibit correlations stronger than any classical
counterpart. In particular, scalable quantum networks require capabilities to
create, store, and distribute entanglement among distant matter nodes via
photonic channels. Atomic ensembles can play the role of such nodes. So far, in
the photon counting regime, heralded entanglement between atomic ensembles has
been successfully demonstrated via probabilistic protocols. However, an
inherent drawback of this approach is the compromise between the amount of
entanglement and its preparation probability, leading intrinsically to low
count rate for high entanglement. Here we report a protocol where entanglement
between two atomic ensembles is created by coherent mapping of an entangled
state of light. By splitting a single-photon and subsequent state transfer, we
separate the generation of entanglement and its storage. After a programmable
delay, the stored entanglement is mapped back into photonic modes with overall
efficiency of 17 %. Improvements of single-photon sources together with our
protocol will enable "on demand" entanglement of atomic ensembles, a powerful
resource for quantum networking.Comment: 7 pages, and 3 figure
OPV strains circulation in HIV infected infants after National Immunisation Days in Bangui, Central African Republic
<p>Abstract</p> <p>Background</p> <p>Humans are the only host of polioviruses, thus the prospects of global polio eradication look reasonable. However, individuals with immunodeficiencies were shown to excrete vaccine derived poliovirus for long periods of time which led to reluctance to prolong the vaccination campaign for fear of this end result. Therefore, we aimed to assess the duration of excretion of poliovirus after the 2001 National Immunization Days according to Human immunodeficiency virus status.</p> <p>Findings</p> <p>Fifty three children were enrolled. Sequential stool samples were collected in between National Immunisation Days rounds and then every month during one year. Children were classified into 2 groups: no immunodepression (n = 38), immunodepression (n = 15) according to CD4+ lymphocytes cells count. Thirteen poliovirus strains were isolated from 11 children: 5 Human immunodeficiency virus positive and 6 Human immunodeficiency virus negative. None of the children excreted poliovirus for more than 4 weeks. The restriction fragment length polymorphism analysis showed that all strains were of Sabin origin including a unique Polio Sabine Vaccine types 2 and 3 (S2/S3) recombinant.</p> <p>Conclusions</p> <p>From these findings we assume that Human immunodeficiency virus positive children are not a high risk population for long term poliovirus excretion. More powerful studies are needed to confirm our findings.</p
GLAST: Understanding the High Energy Gamma-Ray Sky
We discuss the ability of the GLAST Large Area Telescope (LAT) to identify,
resolve, and study the high energy gamma-ray sky. Compared to previous
instruments the telescope will have greatly improved sensitivity and ability to
localize gamma-ray point sources. The ability to resolve the location and
identity of EGRET unidentified sources is described. We summarize the current
knowledge of the high energy gamma-ray sky and discuss the astrophysics of
known and some prospective classes of gamma-ray emitters. In addition, we also
describe the potential of GLAST to resolve old puzzles and to discover new
classes of sources.Comment: To appear in Cosmic Gamma Ray Sources, Kluwer ASSL Series, Edited by
K.S. Cheng and G.E. Romer
X-ray emission from isolated neutron stars
X-ray emission is a common feature of all varieties of isolated neutron stars
(INS) and, thanks to the advent of sensitive instruments with good
spectroscopic, timing, and imaging capabilities, X-ray observations have become
an essential tool in the study of these objects. Non-thermal X-rays from young,
energetic radio pulsars have been detected since the beginning of X-ray
astronomy, and the long-sought thermal emission from cooling neutron star's
surfaces can now be studied in detail in many pulsars spanning different ages,
magnetic fields, and, possibly, surface compositions. In addition, other
different manifestations of INS have been discovered with X-ray observations.
These new classes of high-energy sources, comprising the nearby X-ray Dim
Isolated Neutron Stars, the Central Compact Objects in supernova remnants, the
Anomalous X-ray Pulsars, and the Soft Gamma-ray Repeaters, now add up to
several tens of confirmed members, plus many candidates, and allow us to study
a variety of phenomena unobservable in "standard'' radio pulsars.Comment: Chapter to be published in the book of proceedings of the 1st Sant
Cugat Forum on Astrophysics, "ICREA Workshop on the high-energy emission from
pulsars and their systems", held in April, 201
XplorSeq: A software environment for integrated management and phylogenetic analysis of metagenomic sequence data
<p>Abstract</p> <p>Background</p> <p>Advances in automated DNA sequencing technology have accelerated the generation of metagenomic DNA sequences, especially environmental ribosomal RNA gene (rDNA) sequences. As the scale of rDNA-based studies of microbial ecology has expanded, need has arisen for software that is capable of managing, annotating, and analyzing the plethora of diverse data accumulated in these projects.</p> <p>Results</p> <p>XplorSeq is a software package that facilitates the compilation, management and phylogenetic analysis of DNA sequences. XplorSeq was developed for, but is not limited to, high-throughput analysis of environmental rRNA gene sequences. XplorSeq integrates and extends several commonly used UNIX-based analysis tools by use of a Macintosh OS-X-based graphical user interface (GUI). Through this GUI, users may perform basic sequence import and assembly steps (base-calling, vector/primer trimming, contig assembly), perform BLAST (Basic Local Alignment and Search Tool; <abbrgrp><abbr bid="B1">1</abbr><abbr bid="B2">2</abbr><abbr bid="B3">3</abbr></abbrgrp>) searches of NCBI and local databases, create multiple sequence alignments, build phylogenetic trees, assemble Operational Taxonomic Units, estimate biodiversity indices, and summarize data in a variety of formats. Furthermore, sequences may be annotated with user-specified meta-data, which then can be used to sort data and organize analyses and reports. A document-based architecture permits parallel analysis of sequence data from multiple clones or amplicons, with sequences and other data stored in a single file.</p> <p>Conclusion</p> <p>XplorSeq should benefit researchers who are engaged in analyses of environmental sequence data, especially those with little experience using bioinformatics software. Although XplorSeq was developed for management of rDNA sequence data, it can be applied to most any sequencing project. The application is available free of charge for non-commercial use at <url>http://vent.colorado.edu/phyloware</url>.</p
An effective all-atom potential for proteins
We describe and test an implicit solvent all-atom potential for simulations
of protein folding and aggregation. The potential is developed through studies
of structural and thermodynamic properties of 17 peptides with diverse
secondary structure. Results obtained using the final form of the potential are
presented for all these peptides. The same model, with unchanged parameters, is
furthermore applied to a heterodimeric coiled-coil system, a mixed alpha/beta
protein and a three-helix-bundle protein, with very good results. The
computational efficiency of the potential makes it possible to investigate the
free-energy landscape of these 49--67-residue systems with high statistical
accuracy, using only modest computational resources by today's standards
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