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Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.
BACKGROUND: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS. CASE PRESENTATION: In this case prenatal ultrasound images were suggestive of a serious but non-lethal skeletal dysplasia. Due to the uncertain prognosis the parents were offered Whole Exome Sequencing (WES), which identified a specific gene mutation in the FAMIIIa gene. This mutation had previously been detected in two cases and was lethal in both perinatally. This established the diagnosis, a clear prognosis and allowed informed parental choice regarding ongoing pregnancy management. CONCLUSIONS: This case report supports the use of targeted WES prenatally to confirm the underlying cause and prognosis of sonographically suspected abnormalities
Multiloop divergences in the closed bosonic string theory
The structure of the divergences in the multiloop vacuum diagrams for the closed bosonic strings in the framework of the Polyakov covariant formalism is discussed. It is found, by an explicit computation, that all the divergences in the theory may be interpreted as due to tadpole diagrams in which the dilaton goes into the vacuum
Multiloop divergences in the closed bosonic string theory
The structure of the divergences in the multiloop vacuum diagrams for the closed bosonic strings in the framework of the Polyakov covariant formalism is discussed. It is found, by an explicit computation, that all the divergences in the theory may be interpreted as due to tadpole diagrams in which the dilaton goes into the vacuum
A Search for Sub-Millisecond Pulsars
We have conducted a search of 19 southern Galactic globular clusters for
sub-millisecond pulsars at 660 MHz with the Parkes 64-m radio telescope. To
minimize dispersion smearing we used the CPSR baseband recorder, which samples
the 20 MHz observing band at the Nyquist rate. By possessing a complete
description of the signal we could synthesize an optimal filterbank in
software, and in the case of globular clusters of known dispersion measure,
much of the dispersion could be removed using coherent techniques. This allowed
for very high time resolution (25.6 us in most cases), making our searches in
general sensitive to sub-millisecond pulsars with flux densities greater than
about 3 mJy at 50 cm. No new pulsars were discovered, placing important
constraints on the proportion of pulsars with very short spin periods in these
clusters.Comment: 8 pages, 3 figures, to appear in Ap
Stellar population of the superbubble N206 in the LMC I. Analysis of the Of-type stars
Massive stars are the key agents of feedback. Consequently, quantitative
analysis of massive stars are required to understand how the feedback of these
objects shapes/ creates the large scale structures of the ISM. The giant HII
region N206 in the Large Magellanic Cloud contains an OB association that
powers a X-ray superbubble, serving as an ideal laboratory in this context. We
obtained optical spectra with the muti-object spectrograph FLAMES at the
ESO-VLT. When possible, the optical spectroscopy was complemented by UV spectra
from the HST, IUE, and FUSE archives. Detailed spectral classifications are
presented for our sample Of-type stars. For the quantitative spectroscopic
analysis we use the Potsdam Wolf-Rayet (PoWR) model atmosphere code. The
physical parameters and nitrogen abundances of our sample stars are determined
by fitting synthetic spectra to the observations. The stellar and wind
parameters of nine Of-type stars are used to construct wind momentum,luminosity
relationship. We find that our sample follows a relation close to the
theoretical prediction, assuming clumped winds. The most massive star in the
N206 association is an Of supergiant which has a very high mass-loss rate. Two
objects in our sample reveal composite spectra, showing that the Of primaries
have companions of late O subtype. All stars in our sample have an evolutionary
age less than 4 million years, with the O2-type star being the youngest. All
these stars show a systematic discrepancy between evolutionary and
spectroscopic masses. All stars in our sample are nitrogen enriched. Nitrogen
enrichment shows a clear correlation with increasing projected rotational
velocities. The mechanical energy input from the Of stars alone is comparable
to the energy stored in the N206 superbubble as measured from the observed
X-ray and H alpha emission.Comment: Accepted for the pubblication in Astronomy & Astrophysic
On the Enhanced Interstellar Scattering Toward B1849+005
(Abridged) This paper reports new Very Large Array (VLA) and Very Long
Baseline Array (VLBA) observations of the extragalactic source B1849+005 at
frequencies between 0.33 and 15 GHz and the re-analysis of archival VLA
observations at 0.33, 1.5, and 4.9 GHz. The structure of this source is complex
but interstellar scattering dominates the structure of the central component at
least to 15 GHz. An analysis of the phase structure functions of the
interferometric visibilities shows the density fluctuations along this line of
sight to be anisotropic (axial ratio = 1.3) with a frequency-independent
position angle, and having an inner scale of roughly a few hundred kilometers.
The anisotropies occur on length scales of order 10^{15} cm (D/5 kpc), which
within the context of certain magnetohydrodynamic turbulence theories indicates
the length scale on which the kinetic and magnetic energy densities are
comparable. A conservative upper limit on the velocity of the scattering
material is 1800 km/s. In the 0.33 GHz field of view, there are a number of
other sources that might also be heavily scattered. Both B1849+005 and PSR
B1849+00 are highly scattered, and they are separated by only 13'. If the lines
of sight are affected by the same ``clump'' of scattering material, it must be
at least 2.3 kpc distant. However, a detailed attempt to account for the
scattering observables toward these sources does not produce a self-consistent
set of parameters for such a clump. A clump of H\alpha emission, possibly
associated with the H II region G33.418-0.004, lies between these two lines of
sight, but it seems unable to account for all of the required excess
scattering.Comment: 23 pages, LaTeX2e AASTeX, 13 figures in 14 PostScript files, accepted
for publication in Ap
Duality and perfect probability spaces
Abstract. Given probability spaces (Xi, Ai,Pi),i =1,2,let M(P1,P2)denote the set of all probabilities on the product space with marginals P1 and P2 and let h be a measurable function on (X1 × X2, A1 ⊗A2). Continuous versions of linear programming stemming from the works of Monge (1781) and Kantorovich-Rubinˇstein (1958) for the case of compact metric spaces are concerned with the validity of the duality sup { hdP:P∈M(P1,P2)
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