594 research outputs found
Sudden Increases in Listeriosis Rates in England and Wales, 2001 and 2003
The monthly incidence of listeriosis infections in England and Wales had 2 sudden increases during April 2001 (41%) and March 2003 (48%). Although no causative association is demonstrated, these increases correspond to key dates relating to the onset and aftermath of the 2001 foot and mouth disease outbreak in the United Kingdom
Structural and dielectric properties of SrTiO from first principles
We have investigated the structural and dielectric properties of
SrTiO,the first member of the SrTiO
Ruddlesden-Popper series, within density functional theory. Motivated by recent
work in which thin films of SrTiO were grown by molecular beam
epitaxy (MBE) on SrTiO substrates, the in-plane lattice parameter was
fixed to the theoretically optimized lattice constant of cubic SrTiO
(n=), while the out-of-plane lattice parameter and the internal
structural parameters were relaxed. The fully relaxed structure was also
investigated. Density functional perturbation theory was used to calculate the
zone-center phonon frequencies, Born effective charges, and the electronic
dielectric permittivity tensor. A detailed study of the contribution of
individual infrared-active modes to the static dielectric permittivity tensor
was performed. The calculated Raman and infrared phonon frequencies were found
to be in agreement with experiment where available. Comparisons of the
calculated static dielectric permittivity with experiments on both ceramic
powders and epitaxial thin films are discussed.Comment: 11 pages, 1 figure, 8 tables, submitted to Phys. Rev.
ICTV Virus Taxonomy Profile: Bornaviridae
Members of the family Bornaviridae produce enveloped virions containing a linear negative-sense non-segmented RNA genome of about 9 kb. Bornaviruses are found in mammals, birds, reptiles and fish. The most-studied viruses with public health and veterinary impact are Borna disease virus 1 and variegated squirrel bornavirus 1, both of which cause fatal encephalitis in humans. Several orthobornaviruses cause neurological and intestinal disorders in birds, mostly parrots. Endogenous bornavirus-like sequences occur in the genomes of various animals. This is a summary of the International Committee on Taxonomy of Viruses (ICTV) Report on the family Bornaviridae, which is available at ictv.global/report/bornaviridae
Post-Newtonian Gravitational Radiation
1 Introduction 2 Multipole Decomposition 3 Source Multipole Moments 4
Post-Minkowskian Approximation 5 Radiative Multipole Moments 6 Post-Newtonian
Approximation 7 Point-Particles 8 ConclusionComment: 46 pages, in Einstein's Field Equations and Their Physical
Implications, B. Schmidt (Ed.), Lecture Notes in Physics, Springe
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance
Diagnostic exome sequencing (DES) has aided delineation of the phenotypic spectrum of rare genetic etiologies of intellectual disability (ID). A SET domain containing 5 gene (SETD5) phenotype of ID and dysmorphic features has been previously described in relation to patients with 3p25.3 deletions and in a few individuals with de novo sequence alterations. Herein, we present additional patients with pathogenic SETD5 sequence alterations. The majority of patients in this cohort and previously reported have developmental delay, behavioral/psychiatric issues, and variable hand and skeletal abnormalities. We also present an apparently unaffected carrier mother of an affected individual and a carrier mother with normal intelligence and affected twin sons. We suggest that the phenotype of SETD5 is more complex and variable than previously presented. Therefore, many features and presentations need to be considered when evaluating a patient for SETD5 alterations through DES
Nuclear Alpha-Particle Condensates
The -particle condensate in nuclei is a novel state described by a
product state of 's, all with their c.o.m. in the lowest 0S orbit. We
demonstrate that a typical -particle condensate is the Hoyle state
( MeV, state in C), which plays a crucial role for
the synthesis of C in the universe. The influence of antisymmentrization
in the Hoyle state on the bosonic character of the particle is
discussed in detail. It is shown to be weak. The bosonic aspects in the Hoyle
state, therefore, are predominant. It is conjectured that -particle
condensate states also exist in heavier nuclei, like O,
Ne, etc. For instance the state of O at MeV
is identified from a theoretical analysis as being a strong candidate of a
condensate. The calculated small width (34 keV) of ,
consistent with data, lends credit to the existence of heavier Hoyle-analogue
states. In non-self-conjugated nuclei such as B and C, we discuss
candidates for the product states of clusters, composed of 's,
triton's, and neutrons etc. The relationship of -particle condensation
in finite nuclei to quartetting in symmetric nuclear matter is investigated
with the help of an in-medium modified four-nucleon equation. A nonlinear order
parameter equation for quartet condensation is derived and solved for
particle condensation in infinite nuclear matter. The strong qualitative
difference with the pairing case is pointed out.Comment: 71 pages, 41 figures, review article, to be published in "Cluster in
Nuclei (Lecture Notes in Physics) - Vol.2 -", ed. by C. Beck,
(Springer-Verlag, Berlin, 2011
Magnetic Field Generation in Stars
Enormous progress has been made on observing stellar magnetism in stars from
the main sequence through to compact objects. Recent data have thrown into
sharper relief the vexed question of the origin of stellar magnetic fields,
which remains one of the main unanswered questions in astrophysics. In this
chapter we review recent work in this area of research. In particular, we look
at the fossil field hypothesis which links magnetism in compact stars to
magnetism in main sequence and pre-main sequence stars and we consider why its
feasibility has now been questioned particularly in the context of highly
magnetic white dwarfs. We also review the fossil versus dynamo debate in the
context of neutron stars and the roles played by key physical processes such as
buoyancy, helicity, and superfluid turbulence,in the generation and stability
of neutron star fields.
Independent information on the internal magnetic field of neutron stars will
come from future gravitational wave detections. Thus we maybe at the dawn of a
new era of exciting discoveries in compact star magnetism driven by the opening
of a new, non-electromagnetic observational window.
We also review recent advances in the theory and computation of
magnetohydrodynamic turbulence as it applies to stellar magnetism and dynamo
theory. These advances offer insight into the action of stellar dynamos as well
as processes whichcontrol the diffusive magnetic flux transport in stars.Comment: 41 pages, 7 figures. Invited review chapter on on magnetic field
generation in stars to appear in Space Science Reviews, Springe
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta
Background
Osteogenesis imperfecta (OI), the commonest inherited bone fragility disorder, affects 1 in 15,000 live births resulting in frequent fractures and reduced mobility, with significant impact on quality of life. Early diagnosis is important, as therapeutic advances can lead to improved clinical outcome and patient benefit.
Report
Whole exome sequencing in patients with OI identified, in two patients with a multi-system phenotype, compound heterozygous variants in NBAS (neuroblastoma amplified sequence). Patient 1: NBAS c.5741G > A p.(Arg1914His); c.3010C > T p.(Arg1004*) in a 10-year old boy with significant short stature, bone fragility requiring treatment with bisphosphonates, developmental delay and immunodeficiency. Patient 2: NBAS c.5741G > A p.(Arg1914His); c.2032C > T p.(Gln678*) in a 5-year old boy with similar presenting features, bone fragility, mild developmental delay, abnormal liver function tests and immunodeficiency.
Discussion
Homozygous missense NBAS variants cause SOPH syndrome (short stature; optic atrophy; Pelger-Huet anomaly), the same missense variant was found in our patients on one allele and a nonsense variant in the other allele. Recent literature suggests a multi-system phenotype. In this study, patient fibroblasts have shown reduced collagen expression, compared to control cells and RNAseq studies, in bone cells show that NBAS is expressed in osteoblasts and osteocytes of rodents and primates. These findings provide proof-of-concept that NBAS mutations have mechanistic effects in bone, and that NBAS variants are a novel cause of bone fragility, which is distinguishable from ‘Classical’ OI.
Conclusions
Here we report on variants in NBAS, as a cause of bone fragility in humans, and expand the phenotypic spectrum associated with NBAS. We explore the mechanism underlying NBAS and the striking skeletal phenotype in our patients
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