| 1. |
- Thomas, HS, et al.
(författare)
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- 2019
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swepub:Mat__t
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| 2. |
- Schael, S., et al.
(författare)
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Electroweak measurements in electron positron collisions at W-boson-pair energies at LEP
- 2013
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Ingår i: Physics Reports. - : Elsevier BV. - 0370-1573 .- 1873-6270. ; 532:4, s. 119-244
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Forskningsöversikt (refereegranskat)abstract
- Electroweak measurements performed with data taken at the electron positron collider LEP at CERN from 1995 to 2000 are reported. The combined data set considered in this report corresponds to a total luminosity of about 3 fb(-1) collected by the four LEP experiments ALEPH, DELPHI, 13 and OPAL, at centre-of-mass energies ranging from 130 GeV to 209 GeV. Combining the published results of the four LEP experiments, the measurements include total and differential cross-sections in photon-pair, fermion-pair and four-fermion production, the latter resulting from both double-resonant WW and ZZ production as well as singly resonant production. Total and differential cross-sections are measured precisely, providing a stringent test of the Standard Model at centre-of-mass energies never explored before in electron positron collisions. Final-state interaction effects in four-fermion production, such as those arising from colour reconnection and Bose Einstein correlations between the two W decay systems arising in WW production, are searched for and upper limits on the strength of possible effects are obtained. The data are used to determine fundamental properties of the W boson and the electroweak theory. Among others, the mass and width of the W boson, m(w) and Gamma(w), the branching fraction of W decays to hadrons, B(W -> had), and the trilinear gauge-boson self-couplings g(1)(Z), K-gamma and lambda(gamma), are determined to be: m(w) = 80.376 +/- 0.033 GeV Gamma(w) = 2.195 +/- 0.083 GeV B(W -> had) = 67.41 +/- 0.27% g(1)(Z) = 0.984(-0.020)(+0.018) K-gamma - 0.982 +/- 0.042 lambda(gamma) = 0.022 +/- 0.019. (C) 2013 Elsevier B.V. All rights reserved.
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| 3. |
- Schael, S, et al.
(författare)
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Precision electroweak measurements on the Z resonance
- 2006
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Ingår i: Physics Reports. - : Elsevier BV. - 0370-1573 .- 1873-6270. ; 427:5-6, s. 257-454
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Forskningsöversikt (refereegranskat)abstract
- We report on the final electroweak measurements performed with data taken at the Z resonance by the experiments operating at the electron-positron colliders SLC and LEP. The data consist of 17 million Z decays accumulated by the ALEPH, DELPHI, L3 and OPAL experiments at LEP, and 600 thousand Z decays by the SLID experiment using a polarised beam at SLC. The measurements include cross-sections, forward-backward asymmetries and polarised asymmetries. The mass and width of the Z boson, m(Z) and Gamma(Z), and its couplings to fermions, for example the p parameter and the effective electroweak mixing angle for leptons, are precisely measured: m(Z) = 91.1875 +/- 0.0021 GeV, Gamma(Z) = 2.4952 +/- 0.0023 GeV, rho(l) = 1.0050 +/- 0.0010, sin(2)theta(eff)(lept) = 0.23153 +/- 0.00016. The number of light neutrino species is determined to be 2.9840 +/- 0.0082, in agreement with the three observed generations of fundamental fermions. The results are compared to the predictions of the Standard Model (SM). At the Z-pole, electroweak radiative corrections beyond the running of the QED and QCD coupling constants are observed with a significance of five standard deviations, and in agreement with the Standard Model. Of the many Z-pole measurements, the forward-backward asymmetry in b-quark production shows the largest difference with respect to its SM expectation, at the level of 2.8 standard deviations. Through radiative corrections evaluated in the framework of the Standard Model, the Z-pole data are also used to predict the mass of the top quark, m(t) = 173(+10)(+13) GeV, and the mass of the W boson, m(W) = 80.363 +/- 0.032 GeV. These indirect constraints are compared to the direct measurements, providing a stringent test of the SM. Using in addition the direct measurements of m(t) and m(W), the mass of the as yet unobserved SM Higgs boson is predicted with a relative uncertainty of about 50% and found to be less than 285 GeV at 95% confidence level. (c) 2006 Elsevier B.V. All rights reserved.
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| 4. |
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| 5. |
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| 6. |
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| 7. |
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| 8. |
- Abdellaoui, G., et al.
(författare)
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Meteor studies in the framework of the JEM-EUSO program
- 2017
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Ingår i: Planetary and Space Science. - : Elsevier. - 0032-0633 .- 1873-5088. ; 143, s. 245-255
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Tidskriftsartikel (refereegranskat)abstract
- We summarize the state of the art of a program of UV observations from space of meteor phenomena, a secondary objective of the JEM-EUSO international collaboration. Our preliminary analysis indicates that JEM-EUSO, taking advantage of its large FOV and good sensitivity, should be able to detect meteors down to absolute magnitude close to 7. This means that JEM-EUSO should be able to record a statistically significant flux of meteors, including both sporadic ones, and events produced by different meteor streams. Being unaffected by adverse weather conditions, JEM-EUSO can also be a very important facility for the detection of bright meteors and fireballs, as these events can be detected even in conditions of very high sky background. In the case of bright events, moreover, exhibiting some persistence of the meteor train, preliminary simulations show that it should be possible to exploit the motion of the ISS itself and derive at least a rough 3D reconstruction of the meteor trajectory. Moreover, the observing strategy developed to detect meteors may also be applied to the detection of nuclearites, exotic particles whose existence has been suggested by some theoretical investigations. Nuclearites are expected to move at higher velocities than meteoroids, and to exhibit a wider range of possible trajectories, including particles moving upward after crossing the Earth. Some pilot studies, including the approved Mini-EUSO mission, a precursor of JEM-EUSO, are currently operational or in preparation. We are doing simulations to assess the performance of Mini-EUSO for meteor studies, while a few meteor events have been already detected using the ground-based facility EUSO-TA.
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| 9. |
- Abdellaoui, G., et al.
(författare)
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First observations of speed of light tracks by a fluorescence detector looking down on the atmosphere
- 2018
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Ingår i: Journal of Instrumentation. - : IOP PUBLISHING LTD. - 1748-0221. ; 13
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Tidskriftsartikel (refereegranskat)abstract
- EUSO-Balloon is a pathfinder mission for the Extreme Universe Space Observatory onboard the Japanese Experiment Module (JEM-EUSO). It was launched on the moonless night of the 25(th) of August 2014 from Timmins, Canada. The flight ended successfully after maintaining the target altitude of 38 km for five hours. One part of the mission was a 2.5 hour underflight using a helicopter equipped with three UV light sources (LED, xenon flasher and laser) to perform an inflight calibration and examine the detectors capability to measure tracks moving at the speed of light. We describe the helicopter laser system and details of the underflight as well as how the laser tracks were recorded and found in the data. These are the first recorded laser tracks measured from a fluorescence detector looking down on the atmosphere. Finally, we present a first reconstruction of the direction of the laser tracks relative to the detector.
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| 10. |
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| 11. |
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| 12. |
- Sartelli, Massimo, et al.
(författare)
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Ten golden rules for optimal antibiotic use in hospital settings: the WARNING call to action
- 2023
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Ingår i: WORLD JOURNAL OF EMERGENCY SURGERY. - 1749-7922. ; 18:1
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Forskningsöversikt (refereegranskat)abstract
- Antibiotics are recognized widely for their benefits when used appropriately. However, they are often used inappropriately despite the importance of responsible use within good clinical practice. Effective antibiotic treatment is an essential component of universal healthcare, and it is a global responsibility to ensure appropriate use. Currently, pharmaceutical companies have little incentive to develop new antibiotics due to scientific, regulatory, and financial barriers, further emphasizing the importance of appropriate antibiotic use. To address this issue, the Global Alliance for Infections in Surgery established an international multidisciplinary task force of 295 experts from 115 countries with different backgrounds. The task force developed a position statement called WARNING (Worldwide Antimicrobial Resistance National/International Network Group) aimed at raising awareness of antimicrobial resistance and improving antibiotic prescribing practices worldwide. The statement outlined is 10 axioms, or "golden rules," for the appropriate use of antibiotics that all healthcare workers should consistently adhere in clinical practice.
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| 13. |
- Bisconti, F, et al.
(författare)
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Mini-EUSO engineering model : Tests in open-sky condition
- 2019
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Ingår i: 36th International Cosmic Ray Conference, ICRC 2019. - : Sissa Medialab Srl.
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Konferensbidrag (refereegranskat)abstract
- Mini-EUSO is a UV telescope that will look downwards to the Earth’s atmosphere onboard the International Space Station. With the design of the ultra-high energy cosmic ray fluorescence detectors belonging to the JEM-EUSO program, it will make the first UV map of the Earth by observing atmospheric phenomena such as transient luminous events, sprites and lightning, as well as meteors and bioluminescence from earth. Diffused light from laser shots from the ground, which mimic the fluorescence light emitted by Nitrogen molecules when extensive air showers pass through the atmosphere, can be used to verify the capability of this kind of detector to observe ultra-high energy cosmic rays. To validate the electronics and the trigger algorithms developed for Mini-EUSO, a scaled down version of the telescope with 1:9 of the original focal surface and a lens of 2.5 cm diameter has been built. Tests of the Mini-EUSO engineering model have been made in laboratory and in open sky condition. In this paper, we report results of observations of the night sky, which include the detection of stars, meteors, a planet and a rocket body reflecting the sunlight. Interesting results of the observation of city lights are also reported.
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| 14. |
- Casolino, M, et al.
(författare)
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Mini-EUSO experiment to study UV emission of terrestrial and astrophysical origin onboard of the International Space Station
- 2019
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Ingår i: 36th International Cosmic Ray Conference, ICRC 2019. - : Sissa Medialab Srl.
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Konferensbidrag (refereegranskat)abstract
- Mini-EUSO will observe the Earth in the UV range (300 - 400 nm) offering the opportunity to study a variety of atmospheric events such as Transient Luminous Events (TLEs), meteors and marine bioluminescence. Furthermore it aims to search for Ultra High Energy Cosmic Rays (UHECR) above 1021 eV and Strange Quark Matter (SQM). The detector is expected to be launched to the International Space Station in August 2019 and look at the Earth in nadir mode from the UV-transparent window of the Zvezda module of the International Space Station. The instrument comprises a compact telescope with a large field of view (44?), based on an optical system employing two Fresnel lenses for light collection. The light is focused onto an array of 36 multi-anode photomultiplier tubes (MAPMT), for a total of 2304 pixels and the resulting signal is converted into digital, processed and stored via the electronics subsystems on-board. In addition to the main detector, Mini-EUSO contains two ancillary cameras[4] for complementary measurements in the near infrared (1500 - 1600 nm) and visible (400 - 780 nm) range and also a 8 × 8 SiPM imaging array.
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| 15. |
- Miyamoto, H, et al.
(författare)
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Space debris detection and tracking with the techniques of cosmic ray physics
- 2019
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Ingår i: 36th International Cosmic Ray Conference, ICRC 2019. - : Sissa Medialab Srl.
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Konferensbidrag (refereegranskat)abstract
- Space Debris (SD) consist of non-operational artificial objects orbiting around the Earth, which could possibly damage space vehicles, such as the International Space Station (ISS) or other manned spacecrafts. The vast majority of such objects are cm-sized, not catalogued and usually the tracking data are not precise enough. Here we present the feasibility study of SD detection and tracking with techniques usually employed in cosmic-ray physics. For this purpose, we have evaluated the possibility of using Mini-EUSO, a space-borne fluorescence telescope to be deployed on the ISS, to track SD illuminated by the Sun. By means of ESAF (EUSO Simulation and analysis Framework) simulation and by developing the trigger algorithms, we estimated the minimum size and maximum distances of detectable SD. We then studied the number of possible SD detections using an ESA software called MASTER (Meteoroid and SD Terrestrial Environment Reference). With the Mini-EUSO Engineering Model (Mini-EUSO EM), we performed some measurements to estimate the reflectance of the most common SD materials and to demonstrate the ability of Mini-EUSO to detect SD events. We also performed some tests in open-sky conditions, identifying and tracking fast-moving objects. In particular, the detection of a rocket body allowed us to confirm the simulation outcomes predictions and the expected performance of the detector.
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| 16. |
- Miyamoto, H., et al.
(författare)
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The Euso@turlab : Test of mini-EUSO engineering model
- 2019
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Ingår i: Proceedings of Science. - : Sissa Medialab Srl.
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Konferensbidrag (refereegranskat)abstract
- The TurLab facility is a laboratory, equipped with a 5 m diameter and 1 m depth rotating tank, located in the Physics Department of the University of Turin. Originally, it was mainly built to study systems of different scales where rotation plays a key role in the fluid behavior such as in atmospheric and oceanic flows. In the past few years the TurLab facility has been used to perform experiments related to the observation of Extreme Energy Cosmic Rays (EECRs) from space using the fluorescence technique. For example, in the case of the JEM-EUSO mission, where the diffuse night brightness and artificial light sources can vary significantly in time and space inside the Field of View of the telescope. The Focal Surface of Mini-EUSO Engineering Model (Mini-EUSO EM) with the level 1 (L1) and 2 (L2) trigger logics implemented in the Photo-Detector Module (PDM) has been tested at TurLab. Tests related to the possibility of using an EUSO-like detector for other type of applications such as Space Debris (SD) monitoring and imaging detector have also been pursued. The tests and results obtained within the EUSO@TurLab Project on these different topics are presented.
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| 17. |
- Botticella, M. T., et al.
(författare)
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Supernova rates from the SUDARE VST-omegacam search II. Rates in a galaxy sample
- 2017
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 598
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Tidskriftsartikel (refereegranskat)abstract
- Aims. This is the second paper of a series in which we present measurements of the supernova (SN) rates from the SUDARE survey. The aim of this survey is to constrain the core collapse (CC) and Type Ia SN progenitors by analysing the dependence of their explosion rate on the properties of the parent stellar population averaging over a population of galaxies with different ages in a cosmic volume and in a galaxy sample. In this paper, we study the trend of the SN rates with the intrinsic colours, the star formation activity and the masses of the parent galaxies. To constrain the SN progenitors we compare the observed rates with model predictions assuming four progenitor models for SNe Ia with different distribution functions of the time intervals between the formation of the progenitor and the explosion, and a mass range of 8-40 M for CC SN progenitors. Methods. We considered a galaxy sample of approximately 130 000 galaxies and a SN sample of approximately 50 events. The wealth of photometric information for our galaxy sample allows us to apply the spectral energy distribution (SED) fitting technique to estimate the intrinsic rest frame colours, the stellar mass and star formation rate (SFR) for each galaxy in the sample. The galaxies have been separated into star-forming and quiescent galaxies, exploiting both the rest frame U-V vs. V-J colour-colour diagram and the best fit values of the specific star formation rate (sSFR) from the SED fitting. Results. We found that the SN Ia rate per unit mass is higher by a factor of six in the star-forming galaxies with respect to the passive galaxies, identified as such both on the U-V vs. V-J colour-colour diagram and for their sSFR. The SN Ia rate per unit mass is also higher in the less massive galaxies that are also younger. These results suggest a distribution of the delay times (DTD) less populated at long delay times than at short delays. The CC SN rate per unit mass is proportional to both the sSFR and the galaxy mass, confirming that the CC SN progenitors explode soon after the end of the star formation activity. The trends of the Type Ia and CC SN rates as a function of the sSFR and the galaxy mass that we observed from SUDARE data are in agreement with literature results at different redshifts suggesting that the ability of the stellar populations to produce SN events does not vary with cosmic time. The expected number of SNe Ia is in agreement with that observed for all four DTD models considered both in passive and star-forming galaxies so we can not discriminate between different progenitor scenarios. The expected number of CC SNe is higher than that observed, suggesting a higher limit for the minimum progenitor mass. However, at least part of this discrepancy between expected and observed number of CC SNe may reflect a fluctuation due to the relatively poor statistics. We also compare the expected and observed trends of the SN Ia rate with the intrinsic U-J colour of the parent galaxy, assumed to be a tracer of the age distribution. While the slope of the relation between the SN Ia rate and the U-J colour in star-forming galaxies can be well-reproduced by all four DTD models considered, only the steepest of them is able to account for the rates and colour in star-forming and passive galaxies with the same value of the SN Ia production efficiency. The agreement between model predictions and data could be found for the other DTD models, but with a productivity of SN Ia higher in passive galaxies compared to star-forming galaxies.
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| 18. |
- Marcelli, L., et al.
(författare)
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Integration, qualification, and launch of the Mini-EUSO telescope on board the ISS
- 2023
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Ingår i: Rendiconti Lincei SCIENZE FISICHE E NATURALI. - : Springer Nature. - 2037-4631 .- 1720-0776. ; 34:1, s. 23-35
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Tidskriftsartikel (refereegranskat)abstract
- Mini-EUSO is a high-sensitivity imaging telescope that observes the Earth from the ISS in the near ultraviolet band (290÷ 430 nm), through the nadir-facing, UV-transparent window in the Russian Zvezda module. The instrument, launched in 2019, has a field of view of 44∘, a spatial resolution on the Earth’s surface of 6.3 km and a temporal sampling rate of 2.5 microseconds. Thanks to its triggering and on-board processing, the telescope is capable of detecting UV emissions of cosmic, atmospheric, and terrestrial origin on different time scales, from a few microseconds up to tens of milliseconds. The optics is composed of two Fresnel lenses focusing light onto an array of 36 Hamamatsu Multi-Anode PhotoMultiplier Tubes, for a total of 2304 pixels. The telescope also contains two cameras in the near-infrared and visible, an 8-by-8 array of Silicon-PhotoMultipliers and a series of UV sensors to manage night-day transitions. The scientific objectives range from the observation of atmospheric phenomena [lightning, Transient Luminous Events (TLEs), ELVES], the study of meteoroids, the search of interstellar meteoroids and strange quark matter, mapping of the Earth’s nocturnal emissions in the ultraviolet range, and the search of cosmic rays with energy above 1021 eV. The instrument has been integrated and qualified in 2019, with the final tests in Baikonur prior to its launch. Operations involve periodic installation in the Zvezda module of the station with observations during the crew night time, with periodic downlink of data samples, with the full data being sent to the ground via pouches containing the data disks. Mission planning involves the selection of the optimal orbits to maximize the scientific return of the instrument. In this work, we will describe the various phases of construction, testing, and qualification prior to the launch and the in-flight operations of the instrument on board the ISS.
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| 19. |
- Bisconti, F., et al.
(författare)
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Pre-flight qualification tests of the Mini-EUSO telescope engineering model
- 2022
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Ingår i: Experimental astronomy. - : Springer Nature. - 0922-6435 .- 1572-9508. ; 53:1, s. 133-158
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Tidskriftsartikel (refereegranskat)abstract
- Mini-EUSO is part of the JEM-EUSO program and operates on board the International Space Station (ISS). It is a UV-telescope with single-photon counting capability looking at nighttime downwards to the Earth through a nadir-facing UV-transparent window. As part of the pre-flight tests, the Mini-EUSO engineering model, a telescope with 1/9 of the original focal surface and a lens of 2.5 cm diameter, has been built and tested. Tests of the Mini-EUSO engineering model have been made in laboratory and in open-sky conditions. Laboratory tests have been performed at the TurLab facility, located at the Physics Department of the University of Turin, equipped with a rotating tank containing different types of materials and light sources. In this way, the configuration for the observation of the Earth from space was emulated, including the Mini-EUSO trigger schemes. In addition to the qualification and calibration tests, the Mini-EUSO engineering model has also been used to evaluate the possibility of using a JEM-EUSO-type detector for applications such as observation of space debris. Furthermore, observations in open-sky conditions allowed the studies of natural light sources such as stars, meteors, planets, and artificial light sources such as airplanes, satellites reflecting the sunlight, and city lights. Most of these targets could be detected also with Mini-EUSO. In this paper, the tests in laboratory and in open-sky conditions are reported, as well as the obtained results. In addition, the contribution that such tests provided to foresee and improve the performance of Mini-EUSO on board the ISS is discussed.
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| 20. |
- De Cicco, D., et al.
(författare)
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Optically variable AGN in the three-year VST survey of the COSMOS field
- 2019
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Ingår i: Astronomy and Astrophysics. - : EDP SCIENCES S A. - 0004-6361 .- 1432-0746. ; 627
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Tidskriftsartikel (refereegranskat)abstract
- Context. The analysis of the variability of active galactic nuclei (AGN) at different wavelengths and the study of possible correlations of different spectral windows are a current main field of inquiry. Optical variability has been largely used to identify AGN in multivisit surveys. The strength of a selection based on optical variability lies in the opportunity of analyzing data from surveys of large sky areas by ground-based telescopes. However, the effectiveness of optical variability selection with respect to other multiwavelength techniques has been poorly studied down to the depth that is expected from next-generation surveys. Aims. Here we present the results of our r-band analysis of a sample of 299 optically variable AGN candidates in the VST survey of the COSMOS field, counting 54 visits spread over three observing seasons spanning more than three years. This dataset is more than three times larger than the dataset presented in our previous analysis, and the observing baseline is about eight times longer. Methods. We push toward deeper magnitudes (r(AB) similar to 23.5 mag) than were reached in past studies. We made wide use of ancillary multiwavelength catalogs in order to confirm the nature of our AGN candidates, and constrained the accuracy of the method based on spectroscopic and photometric diagnostics. We also performed tests aimed at assessing the relevance of dense sampling in view of future wide-field surveys. Results. We demonstrate that the method allows the selection of high-purity (> 86%) samples. We take advantage of the longer observing baseline to achieve great improvement in the completeness of our sample with respect to X-ray and spectroscopically confirmed samples of AGN (59% vs. similar to 15% in our previous work), as well as in the completeness of unobscured and obscured AGN. The effectiveness of the method confirms the importance of developing future more refined techniques for the automated analysis of larger datasets.
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| 21. |
- Korth, J., et al.
(författare)
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K2-140b and K2-180b - Characterization of a hot Jupiter and a mini-Neptune from the K2 mission
- 2019
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Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 482:2, s. 1807-1823
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Tidskriftsartikel (refereegranskat)abstract
- We report the independent discovery and characterization of two K2 planets: K2-180b, a mini-Neptune-sized planet in an 8.9-d orbit transiting a V = 12.6 mag, metal-poor ([Fe/H] = -0.65 ± 0.10) K2V star in K2 campaign 5; K2-140b, a transiting hot Jupiter in a 6.6-d orbit around a V = 12.6 mag G6V ([Fe/H] = + 0.10 ± 0.10) star in K2 campaign 10. Our results are based on K2 time-series photometry combined with high-spatial resolution imaging and high-precision radial velocity measurements. We present the first mass measurement of K2-180b. K2-180b has a mass of Mp = 11.3 ± 1.9 M_Earth and a radius of Rp = 2.2 ± 0.1 R_Earth, yielding a mean density of ρp = 5.6 ± 1.9 g cm-3, suggesting a rocky composition. Given its radius, K2-180b is above the region of the so-called `planetary radius gap'. K2-180b is in addition not only one of the densest mini-Neptune-sized planets, but also one of the few mini-Neptune-sized planets known to transit a metal-poor star. We also constrain the planetary and orbital parameters of K2-140b and show that, given the currently available Doppler measurements, the eccentricity is consistent with zero, contrary to the results of a previous study.
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| 22. |
- Picetti, Edoardo, et al.
(författare)
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Early management of adult traumatic spinal cord injury in patients with polytrauma : a consensus and clinical recommendations jointly developed by the World Society of Emergency Surgery (WSES) & the European Association of Neurosurgical Societies (EANS)
- 2024
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Ingår i: World Journal of Emergency Surgery. - : BioMed Central (BMC). - 1749-7922. ; 19
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Tidskriftsartikel (refereegranskat)abstract
- Background: The early management of polytrauma patients with traumatic spinal cord injury (tSCI) is a major challenge. Sparse data is available to provide optimal care in this scenario and worldwide variability in clinical practice has been documented in recent studies.Methods: A multidisciplinary consensus panel of physicians selected for their established clinical and scientific expertise in the acute management of tSCI polytrauma patients with different specializations was established. The World Society of Emergency Surgery (WSES) and the European Association of Neurosurgical Societies (EANS) endorsed the consensus, and a modified Delphi approach was adopted.Results: A total of 17 statements were proposed and discussed. A consensus was reached generating 17 recommendations (16 strong and 1 weak).Conclusions: This consensus provides practical recommendations to support a clinician's decision making in the management of tSCI polytrauma patients.
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| 23. |
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| 24. |
- Lahrouchi, Najim, et al.
(författare)
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Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome
- 2020
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Ingår i: Circulation. - : Lippincott Williams & Wilkins. - 0009-7322 .- 1524-4539. ; 142:4, s. 324-338
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Tidskriftsartikel (refereegranskat)abstract
- Background: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands (genotype positive) and cascade family screening shows incomplete penetrance of genetic variants. Furthermore, a proportion of cases meeting diagnostic criteria for LQTS remain genetically elusive despite genetic testing of established genes (genotype negative). These observations raise the possibility that common genetic variants with small effect size contribute to the clinical picture of LQTS. This study aimed to characterize and quantify the contribution of common genetic variation to LQTS disease susceptibility. Methods: We conducted genome-wide association studies followed by transethnic meta-analysis in 1656 unrelated patients with LQTS of European or Japanese ancestry and 9890 controls to identify susceptibility single nucleotide polymorphisms. We estimated the common variant heritability of LQTS and tested the genetic correlation between LQTS susceptibility and other cardiac traits. Furthermore, we tested the aggregate effect of the 68 single nucleotide polymorphisms previously associated with the QT-interval in the general population using a polygenic risk score. Results: Genome-wide association analysis identified 3 loci associated with LQTS at genome-wide statistical significance (P<5x10(-8)) nearNOS1AP,KCNQ1, andKLF12, and 1 missense variant inKCNE1(p.Asp85Asn) at the suggestive threshold (P<10(-6)). Heritability analyses showed that approximate to 15% of variance in overall LQTS susceptibility was attributable to common genetic variation (h2SNP0.148; standard error 0.019). LQTS susceptibility showed a strong genome-wide genetic correlation with the QT-interval in the general population (r(g)=0.40;P=3.2x10(-3)). The polygenic risk score comprising common variants previously associated with the QT-interval in the general population was greater in LQTS cases compared with controls (P<10-13), and it is notable that, among patients with LQTS, this polygenic risk score was greater in patients who were genotype negative compared with those who were genotype positive (P<0.005). Conclusions: This work establishes an important role for common genetic variation in susceptibility to LQTS. We demonstrate overlap between genetic control of the QT-interval in the general population and genetic factors contributing to LQTS susceptibility. Using polygenic risk score analyses aggregating common genetic variants that modulate the QT-interval in the general population, we provide evidence for a polygenic architecture in genotype negative LQTS.
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| 25. |
- Poulain, M., et al.
(författare)
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Extending the variability selection of active galactic nuclei in the W-CDF-S and SERVS/SWIRE region
- 2020
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Ingår i: Astronomy and Astrophysics. - : EDP SCIENCES S A. - 0004-6361 .- 1432-0746. ; 634
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Tidskriftsartikel (refereegranskat)abstract
- Context. Variability has proven to be a powerful tool to detect active galactic nuclei (AGN) in multi-epoch surveys. The new-generation facilities expected to become operational in the next few years will mark a new era in time-domain astronomy and their wide-field multi-epoch campaigns will favor extensive variability studies.Aims. We present our analysis of AGN variability in the second half of the VST survey of the Wide Chandra Deep Field South, performed in the r band and covering a 2 sq. deg area. The analysis complements a previous work, in which the first half of the area was investigated. We provide a reliable catalog of variable AGN candidates, which will be critical targets in future variability studies.Methods. We selected a sample of optically variable sources and made use of infrared data from the Spitzer mission to validate their nature by means of color-based diagnostics.Results. We obtain a sample of 782 AGN candidates among which 12 are classified as supernovae, 54 as stars, and 232 as AGN. We estimate a contamination less than or similar to 20% and a completeness similar to 38% with respect to mid-infrared selected samples.
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| 26. |
- Mylrea-Foley, Bronacha, et al.
(författare)
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Longitudinal Doppler Assessments in Late Preterm Fetal Growth Restriction
- 2023
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Ingår i: Ultraschall in der Medizin. - : Georg Thieme Verlag KG. - 0172-4614. ; 44:1, s. 56-67
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Tidskriftsartikel (refereegranskat)abstract
- Purpose To assess the longitudinal variation of the ratio of umbilical and cerebral artery pulsatility index (UCR) in late preterm fetal growth restriction (FGR). Materials and Methods A prospective European multicenter observational study included women with a singleton pregnancy, 32 +0-36 +6, at risk of FGR (estimated fetal weight [EFW] or abdominal circumference [AC] <10 th percentile, abnormal arterial Doppler or fall in AC from 20-week scan of >40 percentile points). The primary outcome was a composite of abnormal condition at birth or major neonatal morbidity. UCR was categorized as normal (<0.9) or abnormal (≥0.9). UCR was assessed by gestational age at measurement interval to delivery, and by individual linear regression coefficient in women with two or more measurements. Results 856 women had 2770 measurements; 696 (81%) had more than one measurement (median 3 (IQR 2-4). At inclusion, 63 (7%) a UCR ≥0.9. These delivered earlier and had a lower birth weight and higher incidence of adverse outcome (30% vs. 9%, relative risk 3.2; 95%CI 2.1-5.0) than women with a normal UCR at inclusion. Repeated measurements after an abnormal UCR at inclusion were abnormal again in 67% (95%CI 55-80), but after a normal UCR the chance of finding an abnormal UCR was 6% (95%CI 5-7%). The risk of composite adverse outcome was similar using the first or subsequent UCR values. Conclusion An abnormal UCR is likely to be abnormal again at a later measurement, while after a normal UCR the chance of an abnormal UCR is 5-7% when repeated weekly. Repeated measurements do not predict outcome better than the first measurement, most likely due to the most compromised fetuses being delivered after an abnormal UCR.
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| 27. |
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| 28. |
- Stampalija, T., et al.
(författare)
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Fetal cerebral Doppler changes and outcome in late preterm fetal growth restriction : prospective cohort study
- 2020
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Ingår i: Ultrasound in Obstetrics and Gynecology. - : Wiley. - 0960-7692 .- 1469-0705. ; 56:2, s. 173-181
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Tidskriftsartikel (refereegranskat)abstract
- Objectives To explore the association between fetal umbilical and middle cerebral artery (MCA) Doppler abnormalities and outcome in late preterm pregnancies at risk of fetal growth restriction. Methods This was a prospective cohort study of singleton pregnancies at risk of fetal growth restriction at 32+ 0 to 36+ 6weeks of gestation, enrolled in 33 European centers between 2017 and 2018, in which umbilical and fetal MCA Doppler velocimetry was performed. Pregnancies were considered at risk of fetal growth restriction if they had estimated fetal weight and/or abdominal circumference (AC) < 10th percentile, abnormal arterial Doppler and/or a fall in AC growth velocity of more than 40 percentile points from the 20-week scan. Composite adverse outcome comprised both immediate adverse birth outcome and major neonatal morbidity. Using a range of cut-off values, the association of MCA pulsatility index and umbilicocerebral ratio (UCR) with composite adverse outcome was explored. Results The study population comprised 856 women. There were two (0.2%) intrauterine deaths. Median gestational age at delivery was 38 (interquartile range (IQR), 37-39) weeks and birth weight was 2478 (IQR, 2140-2790) g. Compared with infants with normal outcome, those with composite adverse outcome (n= 93; 11%) were delivered at an earlier gestational age (36 vs 38 weeks) and had a lower birth weight (1900 vs 2540 g). The first Doppler observation of MCA pulsatility index < 5th percentile and UCR Z-score above gestational-age-specific thresholds (1.5 at 32-33weeks and 1.0 at 34-36weeks) had the highest relative risks (RR) for composite adverse outcome (RR 2.2 (95% CI, 1.5-3.2) and RR 2.0 (95% CI, 1.4-3.0), respectively). After adjustment for confounders, the association between UCR Z-score and composite adverse outcome remained significant, although gestational age at delivery and birth-weight Z-score had a stronger association. Conclusion In this prospective multicenter study, signs of cerebral blood flow redistribution were found to be associated with adverse outcome in late preterm singleton pregnancies at risk of fetal growth restriction. Whether cerebral redistribution is a marker describing the severity of fetal growth restriction or an independent risk factor for adverse outcome remains unclear, and whether it is useful for clinical management can be answered only in a randomized trial. (C) 2020 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.
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| 29. |
- Walsh, Roddy, et al.
(författare)
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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
- 2021
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Ingår i: Genetics in Medicine. - : Nature Publishing Group. - 1098-3600 .- 1530-0366. ; 23:1, s. 47-58
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate.Methods: We compared rare variant frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) and 3335 BrS (SCN5A) cases from the International LQTS/BrS Genetics Consortia to population-specific gnomAD data and developed disease-specific criteria for ACMG/AMP evidence classes-rarity (PM2/BS1 rules) and case enrichment of individual (PS4) and domain-specific (PM1) variants.Results: Rare SCN5A variant prevalence differed between European (20.8%) and Japanese (8.9%) BrS patients (p = 5.7 x 10(-18)) and diagnosis with spontaneous (28.7%) versus induced (15.8%) Brugada type 1 electrocardiogram (ECG) (p = 1.3 x 10(-13)). Ion channel transmembrane regions and specific N-terminus (KCNH2) and C-terminus (KCNQ1/KCNH2) domains were characterized by high enrichment of case variants and >95% probability of pathogenicity. Applying the customized rules, 17.4% of European BrS and 74.8% of European LQTS cases had (likely) pathogenic variants, compared with estimated diagnostic yields (case excess over gnomAD) of 19.2%/82.1%, reducing VUS prevalence to close to background rare variant frequency.Conclusion: Large case-control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing.
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| 30. |
- Cambié, G., et al.
(författare)
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Integration and qualification of the Mini-EUSO telescope on board the ISS
- 2022
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Ingår i: 37th International Cosmic Ray Conference, ICRC 2021. - : Sissa Medialab Srl.
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Konferensbidrag (refereegranskat)abstract
- Mini-EUSO is a compact telescope (37 × 37 × 62 cm3) currently hosted on board the International Space Station. Mini-EUSO is devoted primarily to study Ultra High Energy Cosmic Rays (UHECR) above 1021 eV but also to search for Strange Quark Matter (SQM), to observe Transient Luminous Event (TLE) in upper atmosphere, meteoroids, sea bioluminescence and space debris tracking. Mini-EUSO consist of a main optical system, the Photo Detector Module (PDM), sensitive to UV spectrum (300 ÷ 400 nm) and several ancillary sensors comprising a visible (400 ÷ 780 nm) and NIR (1500 ÷ 1600 nm) cameras and a 8 × 8 channels Multi-Pixel Photon Counter Silicon PhotoMultiplier (MPPC SiPM) array which will increase the Tecnological Readyness Level of this ultrafast imaging sensor. Mini-EUSO belongs to a novel set of missions committed to evaluate, for the first time, the capability of observing Cosmic Rays from a space-based The instrumentation, space-qualified tests will be shown.
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| 31. |
- Gauden, Magdalena, et al.
(författare)
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Role of Solvent, pH, and Molecular Size in Excited-State Deactivation of Key Eumelanin Building Blocks: Implications for Melanin Pigment Photostability.
- 2008
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Ingår i: Journal of the American Chemical Society. - : American Chemical Society (ACS). - 1520-5126 .- 0002-7863. ; 130:50, s. 17038-17043
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Tidskriftsartikel (refereegranskat)abstract
- Ultrafast time-resolved fluorescence spectroscopy has been used to investigate the excited-state dynamics of the basic eumelanin building block 5,6-dihydroxyindole-2-carboxylic acid (DHICA), its acetylated, methylated, and carboxylic ester derivatives, and two oligomers, a dimer and a trimer in the O-acetylated forms. The results show that (1) excited-state decays are faster for the trimer relative to the monomer; (2) for parent DHICA, excited-state lifetimes are much shorter in aqueous acidic medium (380 ps) as compared to organic solvent (acetonitrile, 2.6 ns); and (3) variation of fluorescence spectra and excited-state dynamics can be understood as a result of excited-state intramolecular proton transfer (ESIPT). The dependence on the DHICA oligomer size of the excited-state deactivation and its ESIPT mechanism provides important insight into the photostability and the photoprotective function of eumelanin. Mechanistic analogies with the corresponding processes in DNA and other biomolecules are recognized.
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| 32. |
- Goldenberg, Ilan, et al.
(författare)
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Risk for Life-Threatening Cardiac Events in Patients With Genotype-Confirmed Long-QT Syndrome and Normal-Range Corrected QT Intervals
- 2010
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Ingår i: Journal of the American College of Cardiology. - : Elsevier BV. - 0735-1097. ; 57:1, s. 51-59
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Tidskriftsartikel (refereegranskat)abstract
- Objectives This study was designed to assess the clinical course and to identify risk factors for life-threatening events in patients with long-QT syndrome (LQTS) with normal corrected QT (QTc) intervals. Background Current data regarding the outcome of patients with concealed LQTS are limited. Methods Clinical and genetic risk factors for aborted cardiac arrest (ACA) or sudden cardiac death (SCD) from birth through age 40 years were examined in 3,386 genotyped subjects from 7 multinational LQTS registries, categorized as LQTS with normal-range QTc (<= 440 ms [n = 469]), LQTS with prolonged QTc interval (>440 ms [ n = 1,392]), and unaffected family members (genotyped negative with <= 440 ms [ n = 1,525]). Results The cumulative probability of ACA or SCD in patients with LQTS with normal-range QTc intervals (4%) was significantly lower than in those with prolonged QTc intervals (15%) (p < 0.001) but higher than in unaffected family members (0.4%) (p < 0.001). Risk factors ACA or SCD in patients with normal-range QTc intervals included mutation characteristics (transmembrane-missense vs. nontransmembrane or nonmissense mutations: hazard ratio: 6.32; p = 0.006) and the LQTS genotypes (LQTS type 1: LQTS type 2, hazard ratio: 9.88; p = 0.03; LQTS type 3: LQTS type 2, hazard ratio: 8.04; p = 0.07), whereas clinical factors, including sex and QTc duration, were associated with a significant increase in the risk for ACA or SCD only in patients with prolonged QTc intervals (female age >13 years, hazard ratio: 1.90; p = 0.002; QTc duration, 8% risk increase per 10-ms increment; p = 0.002). Conclusions Genotype-confirmed patients with concealed LQTS make up about 25% of the at-risk LQTS population. Genetic data, including information regarding mutation characteristics and the LQTS genotype, identify increased risk for ACA or SCD in this overall lower risk LQTS subgroup. (J Am Coll Cardiol 2011;57:51-9) (C) 2011 by the American College of Cardiology Foundation
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| 33. |
- Ajazi, Fioralba, et al.
(författare)
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Phase transition in random distance graphs on the torus
- 2017
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Ingår i: Journal of Applied Probability. - : Cambridge University Press (CUP). - 0021-9002 .- 1475-6072. ; 54:4, s. 1278-1294
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Tidskriftsartikel (refereegranskat)abstract
- In this paper we consider random distance graphs motivated by applications in neurobiology. These models can be viewed as examples of inhomogeneous random graphs, notably outside of the so-called rank-1 case. Treating these models in the context of the general theory of inhomogeneous graphs helps us to derive the asymptotics for the size of the largest connected component. In particular, we show that certain random distance graphs behave exactly as the classical ErdÅ's-Rényi model, not only in the supercritical phase (as already known) but in the subcritical case as well.
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| 34. |
- Encarnacao, Joao Crispim, Master, 1990-, et al.
(författare)
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A real-time cell-binding assay reveals dynamic features of STxB-Gb3 cointernalization and STxB-mediated cargo delivery into cancer cells
- 2020
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Ingår i: FEBS Letters. - : WILEY. - 0014-5793 .- 1873-3468. ; 594:15, s. 2406-2420
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Tidskriftsartikel (refereegranskat)abstract
- The interaction between the Shiga toxin B-subunit (STxB) and its globotriaosylceramide receptor (Gb3) has a high potential for being exploited for targeted cancer therapy. The primary goal of this study was to evaluate the capacity of STxB to carry small molecules and proteins as cargo into cells. For this purpose, an assay was designed to provide real-time information about the StxB-Gb3 interaction as well as the dynamics and mechanism of the internalization process. The assay revealed the ability to distinguish the process of binding to the cell surface from internalization and presented the importance of receptor and STxB clustering for internalization. The overall setup demonstrated that the binding mechanism is complex, and the concept of affinity is difficult to apply. Hence, time-resolved methods, providing detailed information about the interaction of STxB with cells, are critical for the optimization of intracellular delivery.
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| 35. |
- Huijser, Annemarie, et al.
(författare)
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UV-Dissipation Mechanisms in the Eumelanin Building Block DHICA
- 2010
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Ingår i: ChemPhysChem. - : Wiley. - 1439-7641 .- 1439-4235. ; 11:11, s. 2424-2431
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Tidskriftsartikel (refereegranskat)abstract
- The UV-dissipative mechanisms of the eumelanin building block 5,6-dihydroxyindole-2-carboxylic acid (DHICA) and the 4,7-dideutero derivative (DHICA-d(2)) in buffered H2O or D2O have been characterized by using ultrafast time-resolved fluorescence spectroscopy. Excitation of the carboxylate anion form, the dominating state at neutral pH, leads to dual fluorescence. The band peaking at lambda = 378 nm is caused by emission from the excited initial geometry. The second band around lambda = 450 nm is owed to a complex formed between the monoanion and specific buffer components. In the absence of complex formation, the mono-anion solely decays non-radiatively or by emission with a lifetime of about 2.1 ns. Excitation of the neutral carboxylic acid state, which dominates at acidic pH, leads to a weak emission around lambda = 427 nm with a short lifetime of 240 ps. This emission originates from the zwitterionic state, formed upon excitation of the neutral state by sub-ps excited-state intramolecular proton transfer (ESIPT) between the carboxylic acid group and the indole nitrogen. Future studies will unravel whether this also occurs in larger building blocks and ESIPT is a built-in photoprotective mechanism in epidermal eumelanin.
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| 36. |
- Kielt, Matthew, et al.
(författare)
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Classifying multicenter approaches to invasive mechanical ventilation for infants with bronchopulmonary dysplasia using hierarchical clustering analysis
- 2023
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Ingår i: Pediatric Pulmonology. - : John Wiley & Sons. - 8755-6863 .- 1099-0496. ; 58:8, s. 2323-2332
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Tidskriftsartikel (refereegranskat)abstract
- IntroductionEvidence-based ventilation strategies for infants with severe bronchopulmonary dysplasia (BPD) remain unknown. Determining whether contemporary ventilation approaches cluster as specific BPD strategies may better characterize care and enhance the design of clinical trials. The objective of this study was to test the hypothesis that unsupervised, multifactorial clustering analysis of point prevalence ventilator setting data would classify a discrete number of physiology-based approaches to mechanical ventilation in a multicenter cohort of infants with severe BPD.MethodsWe performed a secondary analysis of a multicenter point prevalence study of infants with severe BPD treated with invasive mechanical ventilation. We clustered the cohort by mean airway pressure (MAP), positive end expiratory pressure (PEEP), set respiratory rate, and inspiratory time (Ti) using Ward's hierarchical clustering analysis (HCA).ResultsSeventy-eight patients with severe BPD were included from 14 centers. HCA classified three discrete clusters as determined by an agglomerative coefficient of 0.97. Cluster stability was relatively strong as determined by Jaccard coefficient means of 0.79, 0.85, and 0.77 for clusters 1, 2, and 3, respectively. The median PEEP, MAP, rate, Ti, and PIP differed significantly between clusters for each comparison by Kruskall–Wallis testing (p < 0.0001).ConclusionsIn this study, unsupervised clustering analysis of ventilator setting data identified three discrete approaches to mechanical ventilation in a multicenter cohort of infants with severe BPD. Prospective trials are needed to determine whether these approaches to mechanical ventilation are associated with specific severe BPD clinical phenotypes and differentially modify respiratory outcomes.
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| 37. |
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| 38. |
- Mylrea-Foley, Bronacha, et al.
(författare)
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Perinatal and 2-year neurodevelopmental outcome in late preterm fetal compromise : the TRUFFLE 2 randomised trial protocol
- 2022
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Ingår i: BMJ Open. - : BMJ Publishing Group Ltd. - 2044-6055. ; 12:4
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Following the detection of fetal growth restriction, there is no consensus about the criteria that should trigger delivery in the late preterm period. The consequences of inappropriate early or late delivery are potentially important yet practice varies widely around the world, with abnormal findings from fetal heart rate monitoring invariably leading to delivery. Indices derived from fetal cerebral Doppler examination may guide such decisions although there are few studies in this area. We propose a randomised, controlled trial to establish the optimum method of timing delivery between 32 weeks and 36 weeks 6 days of gestation. We hypothesise that delivery on evidence of cerebral blood flow redistribution reduces a composite of perinatal poor outcome, death and short-term hypoxia-related morbidity, with no worsening of neurodevelopmental outcome at 2 years.Methods and analysis: Women with non-anomalous singleton pregnancies 32+0 to 36+6 weeks of gestation in whom the estimated fetal weight or abdominal circumference is <10th percentile or has decreased by 50 percentiles since 18-32 weeks will be included for observational data collection. Participants will be randomised if cerebral blood flow redistribution is identified, based on umbilical to middle cerebral artery pulsatility index ratio values. Computerised cardiotocography (cCTG) must show normal fetal heart rate short term variation (>= 4.5 msec) and absence of decelerations at randomisation. Randomisation will be 1:1 to immediate delivery or delayed delivery (based on cCTG abnormalities or other worsening fetal condition). The primary outcome is poor condition at birth and/or fetal or neonatal death and/or major neonatal morbidity, the secondary non-inferiority outcome is 2-year infant general health and neurodevelopmental outcome based on the Parent Report of Children's Abilities-Revised questionnaire.Ethics and dissemination: The Study Coordination Centre has obtained approval from London-Riverside Research Ethics Committee (REC) and Health Regulatory Authority (HRA). Publication will be in line with NIHR Open Access policy.
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| 39. |
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| 40. |
- Napolitano, George M., et al.
(författare)
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Critical line of the Ising model on 2-dimensional CDT and its dual
- 2018
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Ingår i: 14th Marcel Grossman Meeting On Recent Developments in Theoretical and Experimental General Relativity, Astrophysics and Relativistic Field Theories, Proceedings. - : WORLD SCIENTIFIC. - 9789813226593 ; , s. 3885-3890
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Konferensbidrag (refereegranskat)abstract
- In this paper we study the annealed coupling of an Ising model with 2-dimensional causal dynamical triangulation model. After a short review of previous results, we prove the existence of the so-called critical line and derive its analytical properties and asymptotics. In addition, relations between the model and its dual are investigated.
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| 41. |
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| 42. |
- Perucca, Giulia, et al.
(författare)
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Radiologic follow-up in Fontan-associated liver disease in Europe: European Society of Paediatric Radiology survey demonstrates the need for a consensus protocol
- 2021
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Ingår i: Pediatric Radiology. - : Springer Science and Business Media LLC. - 0301-0449 .- 1432-1998. ; 51:13, s. 2607-2610
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Tidskriftsartikel (refereegranskat)abstract
- Fontan surgery is a life-saving procedure for newborns with complex cardiac malformations, but it originates complications in different organs. The liver is also affected, with development of fibrosis and sometimes cirrhosis and hepatocellular carcinoma. There is no general agreement on how to follow-up these children for the development of liver disease. To understand the current practice on liver follow-up, we invited members of the European Society of Paediatric Radiology (ESPR) to fill out an online questionnaire. The survey comprised seven questions about when and how liver follow-up is performed on Fontan patients. While we found some agreement on the use of US as screening tool, and of MRI for nodule characterization, the discrepancies on timing and the lack of a shared protocol make it currently impossible to compare data among centers.
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| 43. |
- Perucca, Giulia, et al.
(författare)
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Surveillance of Fontan-associated liver disease: current standards and a proposal from the European Society of Paediatric Radiology Abdominal Task Force
- 2021
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Ingår i: Pediatric Radiology. - : Springer Science and Business Media LLC. - 0301-0449 .- 1432-1998. ; 51:13, s. 2598-2606
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Tidskriftsartikel (refereegranskat)abstract
- Since Francis Fontan first introduced the eponymous technique, the Fontan procedure, this type of surgical palliation has allowed thousands of children affected by specific heart malformations to reach adulthood. Nevertheless, abdominal, thoracic, lymphatic and neurologic complications are the price that is paid by these patients. Our review focuses on Fontan-associated liver disease; the purpose is to summarize the current understanding of its physiopathology, the aim of follow-up and the specific radiologic follow-up performed in Europe. Finally, we as members of the Abdominal Task Force of the European Society of Paediatric Radiology propose a consensus-based imaging follow-up algorithm.
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| 44. |
- Ridolfi, Elena, et al.
(författare)
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A new methodology to define homogeneous regions through an entropy based clustering method
- 2016
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Ingår i: Advances in Water Resources. - : Elsevier BV. - 0309-1708 .- 1872-9657. ; 96, s. 237-250
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Tidskriftsartikel (refereegranskat)abstract
- One of the most crucial steps in flow frequency studies is the definition of Homogenous Regions (HRs), i.e. areas with similar hydrological behavior. This is essential in ungauged catchments, as HR allows information to be transferred from a neighboring river basin. This study proposes a new, entropy-based approach to define HRs, in which regions are defined as homogeneous if their hydrometric stations capture redundant information. The problem is handled through the definition of the Information Transferred Index (ITI) as the ratio between redundant information and the total information provided by pairs of stations. The methodology is compared with a traditional, distance-based clustering method through a Monte Carlo experiment and a jack-knife procedure. Results indicate that the ITI-based method performs Well, adding value to current methodologies to define HRs.
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| 45. |
- Zurek, Birte, et al.
(författare)
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TRIM27 Negatively Regulates NOD2 by Ubiquitination and Proteasomal Degradation
- 2012
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Ingår i: PLOS ONE. - San fransisco, USA : Public Library of Science. - 1932-6203. ; 7:7
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Tidskriftsartikel (refereegranskat)abstract
- NOD2, the nucleotide-binding domain and leucine-rich repeat containing gene family (NLR) member 2 is involved in mediating antimicrobial responses. Dysfunctional NOD2 activity can lead to severe inflammatory disorders, but the regulation of NOD2 is still poorly understood. Recently, proteins of the tripartite motif (TRIM) protein family have emerged as regulators of innate immune responses by acting as E3 ubiquitin ligases. We identified TRIM27 as a new specific binding partner for NOD2. We show that NOD2 physically interacts with TRIM27 via the nucleotide-binding domain, and that NOD2 activation enhances this interaction. Dependent on functional TRIM27, ectopically expressed NOD2 is ubiquitinated with K48-linked ubiquitin chains followed by proteasomal degradation. Accordingly, TRIM27 affects NOD2-mediated pro-inflammatory responses. NOD2 mutations are linked to susceptibility to Crohns disease. We found that TRIM27 expression is increased in Crohns disease patients, underscoring a physiological role of TRIM27 in regulating NOD2 signaling. In HeLa cells, TRIM27 is partially localized in the nucleus. We revealed that ectopically expressed NOD2 can shuttle to the nucleus in a Walker A dependent manner, suggesting that NOD2 and TRIM27 might functionally cooperate in the nucleus. We conclude that TRIM27 negatively regulates NOD2-mediated signaling by degradation of NOD2 and suggest that TRIM27 could be a new target for therapeutic intervention in NOD2-associated diseases.
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