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Epilepsy is a common neurological condition that shows a marked genetic predisposition. The advent of next-generation sequencing (NGS) has transformed clinical genetic testing by allowing the rapid screen for causative variants in multiple genes. There are currently no NGS-based multigene panel diagnostic tests available for epilepsy as a licensed clinical diagnostic test in Ontario, Canada. Eligible patient samples are sent out of country for testing by commercial laboratories, which incurs significant cost to the public healthcare system.
An expert Working Group of medical geneticists, pediatric neurologists/epileptologists, biochemical geneticists, and clinical molecular geneticists from Ontario was formed by the Laboratories and Genetics Branch of the Ontario Ministry of Health and Long-Term Care to develop a programmatic approach to implementing epilepsy panel testing as a provincial service.
The Working Group made several recommendations for testing to support the clinical delivery of care in Ontario. First, an extension of community healthcare outcomes-based program should be incorporated to inform and educate ordering providers when requesting and interpreting a genetic panel test. Second, any gene panel testing must be “evidence-based” and takes into account varied clinical indications to reduce the chance of uncertain and secondary results. Finally, an ongoing evaluative process was recommended to ensure continued test improvement for the future.
This epilepsy panel testing implementation plan will be a model for genetic care directed toward a specific set of conditions in the province and serve as a prototype for genetic testing for other genetically heterogeneous diseases.
In traditional transit timing variations (TTVs) analysis of multi-planetary systems, the individual TTVs are first derived from transit fitting and later modelled using n-body dynamic simulations to constrain planetary masses. We show that fitting simultaneously the transit light curves with the system dynamics (photo-dynamical model) increases the precision of the TTV measurements and helps constrain the system architecture. We exemplify the advantages of applying this photo-dynamical model to a multi-planetary system found in K2 data very close to 3:2 mean motion resonance, K2-19. In this case the period of the larger TTV variations (libration period) is much longer (>1.5 years) than the duration of the K2 observations (80 days). However, our method allows to detect the short period TTVs produced by the orbital conjunctions between the planets that in turn permits to uniquely characterise the system. Therefore, our method can be used to constrain the masses of near-resonant systems even when the full libration curve is not observed.
Density functional theory calculations and molecular dynamics with a recently developed potential for W–He were used to evaluate the thermal stability of helium-vacancy clusters (nHe.mv) as well as pure interstitial helium clusters in tungsten. The stability of such objects results from a competitive process between thermal emission of vacancies, self interstitial atoms (SIAs), and helium, depending on the helium-to-vacancy ratio in mixed clusters or helium number in pure interstitial helium clusters. We investigated in particular the ground state configurations as well as the activation barriers of self trapping and trap mutation, i.e., the emission of one SIA along with the creation of one vacancy from a vacancy-helium or pure helium object.
This paper presents the modeling of an argon micro-plasma produced by microwaves (2.45 GHz) at atmospheric pressure. The study uses a one-dimensional stationary fluid-type code that solves the transport equations for electrons, positive ions Ar+ and Ar+2, and the electron mean energy, together with Poisson's equation for the space-charge electrostatic field, Maxwell's equations for the electromagnetic excitation field and the gas thermal energy equation. The model uses a simple kinetic scheme for Ar that includes the ground state, an excited state representing the lumped 4s levels, and two ionization states associated to the atomic and the molecular ions. The ions are assumed to be in thermal equilibrium with the neutral gas, having the same temperature profile.
Charge Transfer Inefficiency (CTI) is a well known effect of charge-coupled
devices (CCD). The charge transfer from one pixel to the next is not perfect
and is quantified by the fraction of charge successfully moved (clocked) between
adjacent pixels. The amplitude of this effect depends on the signal level
inside the pixel. In the context of high-precision radial velocity measurements
using cross-dispersed echelle spectrograph, this CTI effect on a CCD
recording spectral orders may introduce associated spectral lines shifts.
Indeed if the signal level recorded on the spectra is changing, the CTI amplitude
will change affecting the associated centroid of all spectral lines.
Such effect may introduced radial velocity shifts of several m s-1.
We describe here CTI effect which is affecting the SOPHIE spectrograph installed on
the 1.93-m telescope of Observatoire de Haute Provence (OHP). We calibrated the
effect thanks to the Thorium-Argon
lines and we applied a software correction on the spectra in order to assess
the charge lost during the readout process on all pixels.
The coarsening kinetics of γ’ precipitates in binary and ternary Al3Sc1-xZrx alloys is studied by using the two- and three-dimensional phase-field simulations. Our focus is on the influence of diffusion coefficients of Sc and Zr atoms on the transformation path kinetics from disordered f.c.c. matrix to two phases equilibrium state with γ’ precipitates and f.c.c. disordered matrix. Our simulation results demonstrate that in the case of binary alloys taking into account the concentration dependence of the mobility of atoms decreases the coarsening rate. In the case of ternary alloys we show that the Al3Sc particles precipitate first following by appearance of a Zr-rich shell. Our simulations results are in good agreement with experimental observations.
P. Boissé, Radioastronomie/ENS, DEMIRM/CNRS, 24 rue Lhomond, F-75231 Paris, France,
S. Thoraval, Radioastronomie/ENS, DEMIRM/CNRS, 24 rue Lhomond, F-75231 Paris, France,
J. C. Cuillandre, CFHT Corporation, P.O. Box 1597, Kamuela, HI 96743, USA,
G. Duvert, Laboratoire d'Astrophysique, Observatoire, B.P. 53X, F-38041 Grenoble Cedex, France,
L. Pagani, DEMIRM/Observatoire de Paris, 61 Avenue de l'observatoire, F-75014 Paris, France
We present recent results from a program devoted to the study of small scale structure in translucent molecular clouds, using dust as a tracer. Several methods have been employed: i) statistical analysis of stellar fields, ii) studies of background galaxies; iii) searches for time variations of the extinction and reddening. For each method, we summarize the principles, the type of constraints provided (scales, sensitivity) and present the results obtained so far. We conclude by some prospects concerning direct studies of the distribution of H2 itself.
Originally, we wished to constrain in a direct way the level at which the penetration of the stellar UV and visible radiation is enhanced by structure effects (cf Boissé 1990). Studies of spatial variations of dust extinction and reddening offer a powerful way to address this question. Indeed, in the presence of density fluctuations, the analysis of extinction in stellar fields directly provides a measure of the effective opacity (Thoraval et al. 1997). Further, in the visible, the required observations are easy to perform and provide an excellent spatial resolution.
Another motivation comes from the detection of very small scale structure both in atomic (Frail et al. 1994) and molecular gas (Moore & Marscher 1995). In the assumption of a uniform dust to gas ratio, one should observe corresponding variations of the amount of dust, resulting in local variations of the extinction.
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