Genetic testing for vascular anomalies

Abstract Vascular anomalies (VAs) have phenotypic variability within the same entity, overlapping clinical features between different conditions, allelic and locus heterogeneity and the same disorder can be inherited in different ways. Most VAs are sporadic (paradominant inheritance or de novo somatic or germline mutations), but hereditary forms (autosomal dominant or recessive) have been described. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials

Virgo cluster early-type dwarf galaxies with the Sloan Digital Sky Survey. IV. The color-magnitude relation

We present an analysis of the optical colors of 413 Virgo cluster early-type dwarf galaxies (dEs), based on Sloan Digital Sky Survey imaging data. Our study comprises (1) a comparison of the color-magnitude relation (CMR) of the different dE subclasses that we identified in Paper III of this series, (2) a comparison of the shape of the CMR in low and high-density regions, (3) an analysis of the scatter of the CMR, and (4) an interpretation of the observed colors with ages and metallicities from population synthesis models. We find that the CMRs of nucleated (dE(N)) and non-nucleated dEs (dE(nN)) are significantly different from each other, with similar colors at fainter magnitudes (r > 17 mag), but increasingly redder colors of the dE(N)s at brighter magnitudes. We interpret this with older ages and/or higher metallicities of the brighter dE(N)s. The dEs with disk features have similar colors as the dE(N)s and seem to be only slightly younger and/or less metal-rich on average. Furthermore, we find a small but significant dependence of the CMR on local projected galaxy number density, consistently seen in all of u-r, g-r, and g-i, and weakly i-z. We deduce that a significant intrinsic color scatter of the CMR is present, even when allowing for a distance spread of our galaxies. No increase of the CMR scatter at fainter magnitudes is observed down to r = 17 mag (Mr = -14 mag). The color residuals, i.e., the offsets of the data points from the linear fit to the CMR, are clearly correlated with each other in all colors for the dE(N)s and for the full dE sample. We conclude that there must be at least two different formation channels for early-type dwarfs in order to explain the heterogeneity of this class of galaxy. (Abridged)Comment: 17 pages + 12 figures. Accepted for publication in A

Hubble Space Telescope WFPC2 Imaging of SN 1979C and Its Environment

The locations of supernovae in the local stellar and gaseous environment in galaxies contain important clues to their progenitor stars. As part of a program to study the environments of supernovae using Hubble Space Telescope (HST) imaging data, we have examined the environment of the Type II-L SN 1979C in NGC 4321 (M100). We place more rigorous constraints on the mass of the SN progenitor, which may have had a mass M \approx 17--18 M_sun. Moreover, we have recovered and measured the brightness of SN 1979C, m=23.37 in F439W (~B; m_B(max) = 11.6), 17 years after explosion. .Comment: 18 pages, 8 figures, submitted to PAS

Genetic testing for hereditary hemorrhagic telangiectasia

Abstract Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. These lesions cause bleeding, particularly in the nose, gastrointestinal tract and brain. HHT has incomplete penetrance, variable expressivity and genetic heterogeneity. De novo mutations associated with the onset of sporadic HHT have been reported. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials

Experimental approach to evaluate the influence of characteristic length on the dynamics of biphasic flow in vacuum impregnation.

Vacuum impregnation (VI) is a process of fluid replacement in porous media by reduction in atmospheric pressure and its subsequent reestablishment. The objective of this study was to evaluate the influence of the characteristic length and viscosity of impregnating fluids on vacuum impregnation dynamics. Refractory ceramic samples were used as a non-deformable porous media model, and a device continuously recorded the changes in net force (difference between weight force and buoyant force) on the sample through a load cell during the impregnation process. The relative values for the sample’s volumetric fraction due to spontaneous imbibition, for the drained fraction due to vacuum application, and for impregnation due to pressure reestablishment were estimated. The total volumetric fraction estimated during VI by the experimental device was compared with the values estimated by a balance and with those predicted by an equilibrium model. The experimental device was shown to be useful to determine impregnation kinetics, it was accurate and obtained values very close to the ones estimated by the balance and predicted by theoretical models. As expected, the kinetics was dependent on fluid viscosity and on the sample’s characteristic length. The kinetics data allowed the minimum time step at the VI process to be determined, enabling the optimization of the process applied to large media or in viscous fluid impregnation

Two rare PROX1 variants in patients with lymphedema

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Gioco d'azzardo patologico: Monitoraggio e prevenzione in Trentino

La ricerca presenta i risultati di pi\uf9 studi sul fenomeno del gioco d'azzardo patologico. Nel volume \ue8 contenuta anche un'analisi delle misure di prevenzione e di trattamento adottate per prevenire e contenere il fenomeno del gioco d'azzardo patologico

Operating a full tungsten actively cooled tokamak: overview of WEST first phase of operation

WEST is an MA class superconducting, actively cooled, full tungsten (W) tokamak, designed to operate in long pulses up to 1000 s. In support of ITER operation and DEMO conceptual activities, key missions of WEST are: (i) qualification of high heat flux plasma-facing components in integrating both technological and physics aspects in relevant heat and particle exhaust conditions, particularly for the tungsten monoblocks foreseen in ITER divertor; (ii) integrated steady-state operation at high confinement, with a focus on power exhaust issues. During the phase 1 of operation (2017–2020), a set of actively cooled ITER-grade plasma facing unit prototypes was integrated into the inertially cooled W coated startup lower divertor. Up to 8.8 MW of RF power has been coupled to the plasma and divertor heat flux of up to 6 MW m−2 were reached. Long pulse operation was started, using the upper actively cooled divertor, with a discharge of about 1 min achieved. This paper gives an overview of the results achieved in phase 1. Perspectives for phase 2, operating with the full capability of the device with the complete ITER-grade actively cooled lower divertor, are also described

Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world

Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic. Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality. Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States. Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis. Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection

Association of kidney disease measures with risk of renal function worsening in patients with type 1 diabetes

Background: Albuminuria has been classically considered a marker of kidney damage progression in diabetic patients and it is routinely assessed to monitor kidney function. However, the role of a mild GFR reduction on the development of stage 653 CKD has been less explored in type 1 diabetes mellitus (T1DM) patients. Aim of the present study was to evaluate the prognostic role of kidney disease measures, namely albuminuria and reduced GFR, on the development of stage 653 CKD in a large cohort of patients affected by T1DM. Methods: A total of 4284 patients affected by T1DM followed-up at 76 diabetes centers participating to the Italian Association of Clinical Diabetologists (Associazione Medici Diabetologi, AMD) initiative constitutes the study population. Urinary albumin excretion (ACR) and estimated GFR (eGFR) were retrieved and analyzed. The incidence of stage 653 CKD (eGFR &lt; 60 mL/min/1.73 m2) or eGFR reduction &gt; 30% from baseline was evaluated. Results: The mean estimated GFR was 98 \ub1 17 mL/min/1.73m2 and the proportion of patients with albuminuria was 15.3% (n = 654) at baseline. About 8% (n = 337) of patients developed one of the two renal endpoints during the 4-year follow-up period. Age, albuminuria (micro or macro) and baseline eGFR &lt; 90 ml/min/m2 were independent risk factors for stage 653 CKD and renal function worsening. When compared to patients with eGFR &gt; 90 ml/min/1.73m2 and normoalbuminuria, those with albuminuria at baseline had a 1.69 greater risk of reaching stage 3 CKD, while patients with mild eGFR reduction (i.e. eGFR between 90 and 60 mL/min/1.73 m2) show a 3.81 greater risk that rose to 8.24 for those patients with albuminuria and mild eGFR reduction at baseline. Conclusions: Albuminuria and eGFR reduction represent independent risk factors for incident stage 653 CKD in T1DM patients. The simultaneous occurrence of reduced eGFR and albuminuria have a synergistic effect on renal function worsening