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)