3,487 research outputs found
On the Transport Properties of a Quark-Hadron Coulomb Lattice in the Cores of Neutron Stars
Already more that 40 years ago, it has been suggested that because of the
enormous mass densities in the cores of neutron stars, the hadrons in the
centers of neutron stars may undergo a phase transition to deconfined quark
matter. In this picture, neutron stars could contain cores made of pure (up,
down, strange) quark matter which are surrounded by a mixed phase of quarks and
hadrons. More than that, because of the competition between the Coulomb and the
surface energies associated with the positively charged regions of nuclear
matter and negatively charged regions of quark matter, the mixed phase may
develop geometrical structures, similarly to what is expected of the
sub-nuclear liquid-gas phase transition. In this paper we restrict ourselves to
considering the formation of rare phase blobs in the mixed quark-hadron phase.
The influence of rare phase blobs on the thermal and transport properties of
neutron star matter is investigated. The total specific heat, , thermal
conductivity, , and electron-blob Bremsstrahlung neutrino emissivities,
, of quark-hybrid matter are computed and the results
are compared with the associated thermal and transport properties of standard
neutron star matter. Our results show that the contribution of rare phase blobs
to the specific heat is negligibly small. This is different for the neutrino
emissivity from electron-blob Bremsstrahlung scattering, which turns out to be
of the same order of magnitude as the total contributions from other
Bremsstrahlung processes for temperatures below about K.Comment: minor changes, accepted by Phys. Rev.
Bulk viscosity of Mixed nucleon-hyperon-quark Matter in Neutron stars
We calculate the coefficient of bulk viscosity by considering the
non-leptonic weak interactions in the cores of hybrid stars with both hyperons
and quarks. We first determine the dependence of the production rate of
neutrons on the reaction rate of quarks in the non-leptonic processes, that is
. The
conversion rate, in our scenario is a complicated function of baryon
number density. We also consider medium effect of quark matter on bulk
viscosity. Using these results, we estimate the limiting rotation of the hybrid
stars, which may suppress the r-mode instability more effectively. Hybrid stars
should be the candidates for the extremely rapid rotators .Comment: This paper contains 17 pages,8 figures and 1 table and is accepted by
Monthly Notices of the Royal Astronomical Societ
Linear magnetoresistance in commercial n-type silicon due to inhomogeneous doping
Free electron theory tells us that resistivity is independent of magnetic
field. In fact, most observations match the semiclassical prediction of a
magnetoresistance that is quadratic at low fields before saturating. However, a
non-saturating linear magnetoresistance has been observed in exotic
semiconductors such as silver chalcogenides, lightly-doped InSb, N-doped InAs,
MnAs-GaAs composites, PrFeAsO, and epitaxial graphene. Here we report the
observation of a large linear magnetoresistance in the ohmic regime in
commonplace commercial n-type silicon wafer. It is well-described by a
classical model of spatially fluctuating donor densities, and may be amplified
by altering the aspect ratio of the sample to enhance current-jetting:
increasing the width tenfold increased the magnetoresistance at 8 T from 445 %
to 4707 % at 35 K. This physical picture may well offer insights into the large
magnetoresistances recently observed in n-type and p-type Si in the non-ohmic
regime.Comment: submitted to Nature Material
Heterozygosity increases microsatellite mutation rate, linking it to demographic history
<p>Abstract</p> <p>Background</p> <p>Biochemical experiments in yeast suggest a possible mechanism that would cause heterozygous sites to mutate faster than equivalent homozygous sites. If such a process operates, it could undermine a key assumption at the core of population genetic theory, namely that mutation rate and population size are indpendent, because population expansion would increase heterozygosity that in turn would increase mutation rate. Here we test this hypothesis using both direct counting of microsatellite mutations in human pedigrees and an analysis of the relationship between microsatellite length and patterns of demographically-induced variation in heterozygosity.</p> <p>Results</p> <p>We find that microsatellite alleles of any given length are more likely to mutate when their homologue is unusually different in length. Furthermore, microsatellite lengths in human populations do not vary randomly, but instead exhibit highly predictable trends with both distance from Africa, a surrogate measure of genome-wide heterozygosity, and modern population size. This predictability remains even after statistically controlling for non-independence due to shared ancestry among populations.</p> <p>Conclusion</p> <p>Our results reveal patterns that are unexpected under classical population genetic theory, where no mechanism exists capable of linking allele length to extrinsic variables such as geography or population size. However, the predictability of microsatellite length is consistent with heterozygote instability and suggest that this has an important impact on microsatellite evolution. Whether similar processes impact on single nucleotide polymorphisms remains unclear.</p
Granular cell tumour of the soft tissues: a case report and literature review
Granular cell tumours (GCT) of the soft tissues are rare benign tumours but some time may be difficult to distinguish from malignant neoplasms. It is important that clinicians are aware of their existence. We present a new case of GCT of the soft tissues followed by a brief review of literature
STRP Screening Sets for the human genome at 5 cM density
BACKGROUND: Short tandem repeat polymorphisms (STRPs) are powerful tools for gene mapping and other applications. A STRP genome scan of 10 cM is usually adequate for mapping single gene disorders. However mapping studies involving genetically complex disorders and especially association (linkage disequilibrium) often require higher STRP density. RESULTS: We report the development of two separate 10 cM human STRP Screening Sets (Sets 12 and 52) which span all chromosomes. When combined, the two Sets contain a total of 782 STRPs, with average STRP spacing of 4.8 cM, average heterozygosity of 0.72, and total sex-average coverage of 3535 cM. The current Sets are comprised almost entirely of STRPs based on tri- and tetranucleotide repeats. We also report correction of primer sequences for many STRPs used in previous Screening Sets. Detailed information for the new Screening Sets is available from our web site: . CONCLUSION: Our new human STRP Screening Sets will improve the quality and cost effectiveness of genotyping for gene mapping and other applications
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CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS
Through dominant mutations, aminoacyl-tRNA synthetases constitute the largest protein family linked to Charcot-Marie-Tooth disease (CMT). An example is CMT subtype 2N (CMT2N), caused by individual mutations spread out in AlaRS, including three in the aminoacylation domain, thereby suggesting a role for a tRNA-charging defect. However, here we found that two are aminoacylation defective but that the most widely distributed R329H is normal as a purified protein in vitro and in unfractionated patient cell samples. Remarkably, in contrast to wild-type (WT) AlaRS, all three mutant proteins gained the ability to interact with neuropilin 1 (Nrp1), the receptor previously linked to CMT pathogenesis in GlyRS. The aberrant AlaRS-Nrp1 interaction is further confirmed in patient samples carrying the R329H mutation. However, CMT2N mutations outside the aminoacylation domain do not induce the Nrp1 interaction. Detailed biochemical and biophysical investigations, including X-ray crystallography, small-angle X-ray scattering, hydrogen-deuterium exchange (HDX), switchSENSE hydrodynamic diameter determinations, and protease digestions reveal a mutation-induced structural loosening of the aminoacylation domain that correlates with the Nrp1 interaction. The b1b2 domains of Nrp1 are responsible for the interaction with R329H AlaRS. The results suggest Nrp1 is more broadly associated with CMT-associated members of the tRNA synthetase family. Moreover, we revealed a distinct structural loosening effect induced by a mutation in the editing domain and a lack of conformational impact with C-Ala domain mutations, indicating mutations in the same protein may cause neuropathy through different mechanisms. Our results show that, as with other CMT-associated tRNA synthetases, aminoacylation per se is not relevant to the pathology
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CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS.
Through dominant mutations, aminoacyl-tRNA synthetases constitute the largest protein family linked to Charcot-Marie-Tooth disease (CMT). An example is CMT subtype 2N (CMT2N), caused by individual mutations spread out in AlaRS, including three in the aminoacylation domain, thereby suggesting a role for a tRNA-charging defect. However, here we found that two are aminoacylation defective but that the most widely distributed R329H is normal as a purified protein in vitro and in unfractionated patient cell samples. Remarkably, in contrast to wild-type (WT) AlaRS, all three mutant proteins gained the ability to interact with neuropilin 1 (Nrp1), the receptor previously linked to CMT pathogenesis in GlyRS. The aberrant AlaRS-Nrp1 interaction is further confirmed in patient samples carrying the R329H mutation. However, CMT2N mutations outside the aminoacylation domain do not induce the Nrp1 interaction. Detailed biochemical and biophysical investigations, including X-ray crystallography, small-angle X-ray scattering, hydrogen-deuterium exchange (HDX), switchSENSE hydrodynamic diameter determinations, and protease digestions reveal a mutation-induced structural loosening of the aminoacylation domain that correlates with the Nrp1 interaction. The b1b2 domains of Nrp1 are responsible for the interaction with R329H AlaRS. The results suggest Nrp1 is more broadly associated with CMT-associated members of the tRNA synthetase family. Moreover, we revealed a distinct structural loosening effect induced by a mutation in the editing domain and a lack of conformational impact with C-Ala domain mutations, indicating mutations in the same protein may cause neuropathy through different mechanisms. Our results show that, as with other CMT-associated tRNA synthetases, aminoacylation per se is not relevant to the pathology
Straightforward Inference of Ancestry and Admixture Proportions through Ancestry-Informative Insertion Deletion Multiplexing
Ancestry-informative markers (AIMs) show high allele frequency divergence between different ancestral or geographically distant populations. These genetic markers are especially useful in inferring the likely ancestral origin of an individual or estimating the apportionment of ancestry components in admixed individuals or populations. The study of AIMs is of great interest in clinical genetics research, particularly to detect and correct for population substructure effects in case-control association studies, but also in population and forensic genetics studies
The sinus tarsi approach in displaced intra-articular calcaneal fractures: a systematic review
Purpose: Although open reduction and internal fixation is currently considered the gold standard in surgical treatment of displaced intra-articular calcaneal fractures, various different approaches exist including the limited lateral approach. The aim of this systematic review was to combine the results of studies using the sinus tarsi approach, which is the most frequently applied limited lateral approach. Method: A literature search in the electronic databases of the Cochrane Library and Pubmed Medline, between January 1st 2000 to December 1st 2010, was conducted to identify studies in which the sinus tarsi approach or a modified sinus tarsi approach was utilized for the treatment of displaced intra-articular calcaneal fractures. The methodological quality of the included studies was assessed using the Coleman methodology score. Results: A total of eight case series reporting on 256 patients with 271 calcaneal fractures was identified. Overall good to excellent outcome was reached in three-quarters of all patients. An average complication rate of minor wound complications of 4.1% was reported and major wound complications in 0.7%. The need for a secondary subtalar arthrodesis occurred at an average rate of 4.3%. The average Coleman methodology score was 56.8 (range 39-72) points. Conclusion: The results, i.e. functional outcome and complication rates, of the sinus tarsi approach compare similarly or favourably to the extended lateral approach. Therefore, in the process of tailoring the best treatment modality to the right patient and the right fracture type, the sinus tarsi approach might be a valuable asset
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