Survey of Italian pediatricians on awareness, experiences and beliefs regarding direct-to-consumer genetic testing in minors

Background: Our study wanted to assess Italian pediatricians’ awareness, experience and beliefs regarding directto- consumer (DTC) genetic tests (GT) in minors, with a focus on those for predisposition to complex disease, lyfestyle, athletic ability and other inborn talents. Methods: A 28-item questionnaire was administered through the SurveyMonkey® web platform to the 9,086 members of the Italian Society of Pediatrics for which a valid email address was available. The survey was opened from April through November 2017. Statistical analyses were performed using the Graphpad software package. Results: 36.2% of the 442 respondents were aware of DTC-GT, but only 23.1% of them felt adequately prepared to meet families’ information needs. The first three sources of knowledge were the Internet (20.98%), magazines/ newspapers (16.78%) and TV/Radio (14.33%), while companies’ direct marketing activity influenced knowledge only in 2.45% of the cases. Only 16.4% of the aware respondents had been already approached for advice. More than 95% of the pediatricians who were aware would not advise DTC-GT for lifestyle, athletic performance or other inborn skills. 69.2% was unfavourable to susceptibility tests for complex diseases. Most of them expressed an interest in learning more and indicated as preferred sources of information public policies issued by professional societies. Conclusion: The low awareness and experience and the vendors’ tiny contribution to knowledge suggest a still limited penetration of DTC-GT companies in Italy. A great interest in learning more was found. Scientific societies are best positioned to support health professionals in this educational goal thanks to their role of trusted sources of information and guidance

The failed state transition of the ATOLL source GRS 1724-308

The 2004-2012 X-ray time history of the NS LMXB GRS 1724-308 shows, along with the episodic brightenings associated to the low-high state transitions typical of the ATOLL sources, a peculiar, long lasting (about 300 d) flaring event, observed in 2008. This rare episode, characterised by a high-flux hard state, has never been observed before for GRS 1724-308 , and in any case is not common among ATOLL sources. We discuss here different hypotheses on the origin of this peculiar event that displayed the spectral signatures of a failed transition, similar in shape and duration to those rarely observed in Black Hole binaries. We also suggest the possibility that the atypical flare occurred in coincidence with a new rising phase of the 12-years super-orbital modulation that has been previously reported by other authors. The analysed data also confirm for GRS 1724-308 the already reported orbital period of about 90 d.Comment: accepted for publication in MNRA

INTEGRAL high energy behaviour of 4U 1812-12

The low mass X-ray binary system 4U 1812-12 was monitored with the INTEGRAL observatory in the period 2003-2004 and with BeppoSAX on April 20, 2000. We report here on the spectral and temporal analysis of both persistent and burst emission. The full data set confirms the persistent nature of this burster, and reveals the presence of emission up to 200 keV. The persistent spectrum is well described by a comptonization (CompTT) model plus a soft blackbody component. The source was observed in a hard spectral state with a 1-200 keV luminosity of 2*10^(36) ergs/s and L/LEdd~1% and no meaningful flux variation has been revealed, as also confirmed by a 2004 RXTE observation. We have also detected 4 bursts showing double peaked profiles and blackbody spectra with temperatures ranging from 1.9 to 3.1 keV.Comment: 6 pages, 4 figures. Accepted for publication by A&

Potential-field inversion for a layer with uneven thickness: the Tyrrhenian Sea density model

Inversion of large-scale potential-field anomalies, aimed at determining density or magnetization, is usually made in the Fourier domain. The commonly adopted geometry is based on a layer of constant thickness, characterized by a bottom surface at a fixed distance from the top surface. We propose a new method to overcome this limiting geometry, by inverting in the usual iterating scheme using top and bottom surfaces of differing, but known shapes. Randomly generated synthetic models will be analyzed, and finally performance of this method will be tested on real gravity data describing the isostatic residual anomaly of the Southern Tyrrhenian Sea in Italy. The final result is a density model that shows the distribution of the oceanic crust in this region, which is delimited by known structural elements and appears strongly correlated with the oceanized abyssal basins of Vavilov and Marsili

Detph-to-the-bottom Optimization for Potential-field Data Inversion

We show an algorithm for the linear inversion of 2D surface magnetic data to obtain 3D models of the susceptibility of the source. After showing a novel characterization of the ambiguity domain in the Fourier space, which has a simple geometrical interpretation, we will demonstrate that a depth-weighting function is useful to significantly reduce the ambiguity domain in order to characterize the main source properties. The forward model is discretized by a mesh of prismatic cells with constant magnetization that allows the recovery of a complete 3D generating source. As the number of cells are normally grater than the amount of available data, we are left with an underdetermined linear inverse problem, which can be regularized in order to obtain an unique solution by a depth-weighting function, adapted from Li and Oldenburg (1996) to close the source towards its bottom. The main novelty of this method is a first-stage optimization that gives information about the depth-to-the-bottom (dtb) of the generating source. This parameter permits both the evaluation of the appropriate vertical extension of the mesh, and the definition of the shape of the regularizing depth-weighting distribution. The adopted method is suitable under appropriate changes to deal also with gravity data. After showing which kind of a priori information is introduced by this particular regularization, we will describe its limits and its possible improvements and then we will show the results of some synthetic tests. As a final application we will show the 3D magnetic model of an interesting volcanic region in Italy

Determining the optimal Bouguer density for a gravity data-set

Two methods are commonly adopted to evaluate the optimal Bouguer density for a given data-set, starting from different data characteristics or geological regime, giving in many cases different results. We propose some simple extension of these methods in order to make their results compatible. To this aim, we have used free-air gravity satellite data from Geosat and ERS-1 missions in order to compile a Bouguer gravity map of the Mediterranean Sea. The complete Bouguer correction has been applied by using the method of Parker (1972), that acts in the Fourier domain and allows for an exact evaluation of the gravity contribution from an highly sampled topographic model of the land. The density used for the Bouguer reduction has been obtained thus from the gravity data-set itself, by using two different optimization methods that have given the same optimal result of 2400 kg/m3. We have studied the radial power spectrum of the data, choosing the optimal Bouguer density as the one that minimizes its slope, i.e. the fractal dimension of the resulting gravity map in the band of wavelength from 45 km to 105 km. The second approach consists of studying the correlation between topography and Bouguer anomaly by spatial crossplots for a significant sub-set of the data. In the past these methodologies were applied alternatively since they gave different optimization values, especially the second method that seems to ignore large-wavelength isostatic effects. The main novelty of our work is represented by the combined application of both the approaches having as common goal the reduction of the short-wavelength effects of topography in the gravity map. Actually we have revisited both the methodologies, proposing slight modifications to make their efforts compatible. Their coincident results confirm their validity of application and give reliability to the recovered value of the Bouguer optimal density. As a first result we have obtained a revised Bouguer map for the Mediterranean Sea, that is useful for large-scale geological studies. Moreover, studying the correlation between Bouguer anomaly and bathymetry, we propose the compilation of a new interpretative tool that may be considered a sort of normalized correlation map defining the 2D isostatic setting of the investigated region, without introducing any lithospheric model. In a direct way we have found that the over-all region seems to be in a complete isostatic equilibrium apart from the young basins of Tyrrhenian Sea and Aegean Sea, confirming previous similar results

Depth-to-the-bottom optimization for potential field inversion

We present an algorithm for the linear inversion of 2D surface magnetic data to obtain 3D models of the susceptibility of the source. The forward model is discretized by a mesh of prismatic cells with constant magnetization that allows the recovery of a complete 3D generating source....