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

Producing more rice with less water from irrigated systems

Irrigation management / Water use efficiency / Crop production / Water requirements / Water balance / Rice / Water distribution / Irrigated farming / Productivity / On-farm research / Irrigation scheduling / Groundwater / Conjunctive use / Rehabilitation / Modernization / Farmer participation / Farming systems / Irrigation systems / Crop-based irrigation / Asia / Philippines / Sri Lanka / Bangladesh / China / Malaysia / USA

Scaling study of Si/SiGe MODFETs for RF applications

Based on the successful calibration on a 0.25 /spl mu/m strained Si/SiGe n-type MODFET, this paper presents a gate length scaling study of double-side doped Si/SiGe MODFETs. Our simulations show that gate length scaling improves device RF performance. However, the short channel effects (SCE) along with the parasitic delays limit the device performance improvements. We find that it is necessary to consider scaling (dimensions and doping) of both the lateral and vertical architecture in order to optimize the device design

Coalescence of Two Spinning Black Holes: An Effective One-Body Approach

We generalize to the case of spinning black holes a recently introduced ``effective one-body'' approach to the general relativistic dynamics of binary systems. The combination of the effective one-body approach, and of a Pad\'e definition of some crucial effective radial functions, is shown to define a dynamics with much improved post-Newtonian convergence properties, even for black hole separations of the order of $6 GM / c^2$. We discuss the approximate existence of a two-parameter family of ``spherical orbits'' (with constant radius), and, of a corresponding one-parameter family of ``last stable spherical orbits'' (LSSO). These orbits are of special interest for forthcoming LIGO/VIRGO/GEO gravitational wave observations. It is argued that for most (but not all) of the parameter space of two spinning holes the effective one-body approach gives a reliable analytical tool for describing the dynamics of the last orbits before coalescence. This tool predicts, in a quantitative way, how certain spin orientations increase the binding energy of the LSSO. This leads to a detection bias, in LIGO/VIRGO/GEO observations, favouring spinning black hole systems, and makes it urgent to complete the conservative effective one-body dynamics given here by adding (resummed) radiation reaction effects, and by constructing gravitational waveform templates that include spin effects. Finally, our approach predicts that the spin of the final hole formed by the coalescence of two arbitrarily spinning holes never approaches extremality.Comment: 26 pages, two eps figures, accepted in Phys. Rev. D, minor updating of the text, clarifications added and inclusion of a few new reference

Array Processing of Rayleigh Waves for Shear Structure

Site response to earthquakes is strongly dependent on shallow shear wave velocity structure β(z), and evidence suggests that soil strength and liquefaction potential depends on it as well. We have determined β(z) at several sites by inversion of dispersion data from Rayleigh waves recorded on linear arrays of geophones using artificial sources. Improved methods have been developed for extracting phase and group velocities that lead to significantly more stable and accurate inversion results

Nodeless superconductivity in the cage-type superconductor Sc5Ru6Sn18 with preserved time-reversal symmetry

We report the single-crystal synthesis and detailed investigations of the cage-type superconductor Sc5Ru6Sn18, using powder x-ray diffraction (XRD), magnetization, specific-heat and muon-spin relaxation (muSR) measurements. Sc5Ru6Sn18 crystallizes in a tetragonal structure (space group I41/acd) with the lattice parameters a = 1.387(3) nm and c = 2.641(5) nm. Both DC and AC magnetization measurements prove the type-II superconductivity in Sc5Ru6Sn18 with Tc = 3.5(1) K, a lower critical field H_c1 (0) = 157(9) Oe and an upper critical field, H_c2 (0) = 26(1) kOe. The zero-field electronic specific-heat data are well fitted using a single-gap BCS model, with superconducting gap = 0.64(1) meV. The Sommerfeld constant varies linearly with the applied magnetic field, indicating s-wave superconductivity in Sc5Ru6Sn18. Specific-heat and transverse-field (TF) muSR measurements reveal that Sc5Ru6Sn18 is a superconductor with strong electron-phonon coupling, with TF-muSR also suggesting the single-gap s-wave character of the superconductivity. Furthermore, zero-field muSR measurements do not detect spontaneous magnetic fields below Tc, hence implying that time-reversal symmetry is preserved in Sc5Ru6Sn18.Comment: 23 pages, 11 figure

Addressing Undernutrition in Nigeria: What Next?

This briefing sets out the Priorities for Action that emerged from an online discussion amongst experts from central and sub-national government, multilateral and bilateral development agencies, national and international non-governmental organisations, civil society organisations, and research institutions operating in different sectors and levels in Nigeria, and who share the same goal of ending undernutrition in Nigeria. Those advocating within and outside government for commitment and action to address undernutrition in Nigeria are encouraged to adopt and use these Priorities for Action to inform and guide their advocacy efforts

The Lennard-Jones-Devonshire cell model revisited

We reanalyse the cell theory of Lennard-Jones and Devonshire and find that in addition to the critical point originally reported for the 12-6 potential (and widely quoted in standard textbooks), the model exhibits a further critical point. We show that the latter is actually a more appropriate candidate for liquid-gas criticality than the original critical point.Comment: 5 pages, 3 figures, submitted to Mol. Phy

Optimizations of sub-100 nm Si/SiGe MODFETs for high linearity RF applications

Based on careful calibration in respect of 70 nm n-type strained Si channel S/SiGe modulation doped FETs (MODFETs) fabricated by Daimler Chrysler, numerical simulations have been used to study the impact of the device geometry and various doping strategies on device performance and linearity. The device geometry is sensitive to both RF performance and device linearity. Doped channel devices are found to be promising for high linearity applications. Trade-off design strategies are required for reconciling the demands of high device performance and high linearity simultaneously. The simulations also suggest that gate length scaling helps to achieve higher RF performance, but decreases the linearity

Innermost circular orbit of binary black holes at the third post-Newtonian approximation

The equations of motion of two point masses have recently been derived at the 3PN approximation of general relativity. From that work we determine the location of the innermost circular orbit or ICO, defined by the minimum of the binary's 3PN energy as a function of the orbital frequency for circular orbits. We find that the post-Newtonian series converges well for equal masses. Spin effects appropriate to corotational black-hole binaries are included. We compare the result with a recent numerical calculation of the ICO in the case of two black holes moving on exactly circular orbits (helical symmetry). The agreement is remarkably good, indicating that the 3PN approximation is adequate to locate the ICO of two black holes with comparable masses. This conclusion is reached with the post-Newtonian expansion expressed in the standard Taylor form, without using resummation techniques such as Pad\'e approximants and/or effective-one-body methods.Comment: 21 pages, to appear in Phys. Rev. D (spin effects appropriate to corotational black-hole binaries are included; discussion on the validity of the approximation is added