| 1. |
- Delabrouille, J., et al.
(författare)
-
Exploring cosmic origins with CORE : Survey requirements and mission design
- 2018
-
Ingår i: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :4
-
Tidskriftsartikel (refereegranskat)abstract
- Future observations of cosmic microwave background (CMB) polarisation have the potential to answer some of the most fundamental questions of modern physics and cosmology, including: what physical process gave birth to the Universe we see today? What are the dark matter and dark energy that seem to constitute 95% of the energy density of the Universe? Do we need extensions to the standard model of particle physics and fundamental interactions? Is the ACDM cosmological scenario correct, or are we missing an essential piece of the puzzle? In this paper, we list the requirements for a future CMB polarisation survey addressing these scientific objectives, and discuss the design drivers of the CORE space mission proposed to ESA in answer to the M5 call for a medium-sized mission. The rationale and options, and the methodologies used to assess the mission's performance, are of interest to other future CMB mission design studies. CORE has 19 frequency channels, distributed over a broad frequency range, spanning the 60-600 GHz interval, to control astrophysical foreground emission. The angular resolution ranges from 2' to 18', and the aggregate CMB sensitivity is about 2 mu K.arcmin. The observations are made with a single integrated focal-plane instrument, consisting of an array of 2100 cryogenically-cooled, linearly-polarised detectors at the focus of a 1.2-m aperture cross-Dragone telescope. The mission is designed to minimise all sources of systematic effects, which must be controlled so that no more than 10(-4) of the intensity leaks into polarisation maps, and no more than about 1% of E-type polarisation leaks into B-type modes. CORE observes the sky from a large Lissajous orbit around the Sun-Earth L2 point on an orbit that offers stable observing conditions and avoids contamination from sidelobe pick-up of stray radiation originating from the Sun, Earth, and Moon. The entire sky is observed repeatedly during four years of continuous scanning, with a combination of three rotations of the spacecraft over different timescales. With about 50% of the sky covered every few days, this scan strategy provides the mitigation of systematic effects and the internal redundancy that are needed to convincingly extract the primordial B-mode signal on large angular scales, and check with adequate sensitivity the consistency of the observations in several independent data subsets. CORE is designed as a near-ultimate CMB polarisation mission which, for optimal complementarity with ground-based observations, will perform the observations that are known to be essential to CMB polarisation science and cannot be obtained by any other means than a dedicated space mission. It will provide well-characterised, highly-redundant multi-frequency observations of polarisation at all the scales where foreground emission and cosmic variance dominate the final uncertainty for obtaining precision CMB science, as well as 2' angular resolution maps of high-frequency foreground emission in the 300-600 GHz frequency range, essential for complementarity with future ground-based observations with large telescopes that can observe the CMB with the same beamsize.
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
- Smol, T., et al.
(författare)
-
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
- 2018
-
Ingår i: Neurogenetics. - : SPRINGER. - 1364-6745 .- 1364-6753. ; 19:2, s. 93-103
-
Tidskriftsartikel (refereegranskat)abstract
- Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects. Phenotype of the patients was referred to "MED13L haploinsufficiency syndrome." Missense variants in MED13L were already previously described to cause the MED13L-related syndrome, but only in a limited number of patients. Here we report 36 patients with MED13L molecular anomaly, recruited through an international collaboration between centers of expertise for developmental anomalies. All patients presented with intellectual disability and severe language impairment. Hypotonia, ataxia, and recognizable facial gestalt were frequent findings, but not congenital heart defects. We identified seven de novo missense variations, in addition to protein-truncating variants and intragenic deletions. Missense variants clustered in two mutation hot-spots, i.e., exons 15-17 and 25-31. We found that patients carrying missense mutations had more frequently epilepsy and showed a more severe phenotype. This study ascertains missense variations in MED13L as a cause for MED13L-related intellectual disability and improves the clinical delineation of the condition.
|
|
| 5. |
- Burigana, C., et al.
(författare)
-
Exploring cosmic origins with CORE : Effects of observer peculiar motion
- 2018
-
Ingår i: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :4
-
Tidskriftsartikel (refereegranskat)abstract
- We discuss the effects on the cosmic microwave background (CMB), cosmic infrared background (CIB), and thermal Sunyaev-Zeldovich effect due to the peculiar motion of an observer with respect to the CMB rest frame, which induces boosting effects. After a brief review of the current observational and theoretical status, we investigate the scientific perspectives opened by future CMB space missions, focussing on the Cosmic Origins Explorer (CORE) proposal. The improvements in sensitivity offered by a mission like CORE, together with its high resolution over a wide frequency range, will provide a more accurate estimate of the CMB dipole. The extension of boosting effects to polarization and cross-correlations will enable a more robust determination of purely velocity-driven effects that are not degenerate with the intrinsic CMB dipole, allowing us to achieve an overall signal-to-noise ratio of 13; this improves on the Planck detection and essentially equals that of an ideal cosmic variance-limited experiment up to a multipole l similar or equal to 2000. Precise inter-frequency calibration will offer the opportunity to constrain or even detect CMB spectral distortions, particularly from the cosmological reionization epoch, because of the frequency dependence of the dipole spectrum, without resorting to precise absolute calibration. The expected improvement with respect to COBE-FIRAS in the recovery of distortion parameters (which could in principle be a factor of several hundred for an ideal experiment with the CORE configuration) ranges from a factor of several up to about 50, depending on the quality of foreground removal and relative calibration. Even in the case of similar or equal to 1% accuracy in both foreground removal and relative calibration at an angular scale of 1 degrees, we find that dipole analyses for a mission like CORE will be able to improve the recovery of the CIB spectrum amplitude by a factor similar or equal to 17 in comparison with current results based on COBE-FIRAS. In addition to the scientific potential of a mission like CORE for these analyses, synergies with other planned and ongoing projects are also discussed.
|
|
| 6. |
- Borsato, E., et al.
(författare)
-
Characterization of Herschel-selected strong lens candidates through HST and sub-mm/mm observations
- 2024
-
Ingår i: Monthly Notices of the Royal Astronomical Society. - 0035-8711 .- 1365-2966. ; 528:4, s. 6222-6279
-
Tidskriftsartikel (refereegranskat)abstract
- We have carried out Hubble Space Telescope (HST) snapshot observations at 1.1 μm of 281 candidate strongly lensed galaxies identified in the wide-area extragalactic surveys conducted with the Herschel Space Observatory. Our candidates comprise systems with flux densities at 500 μm, S500 ≥ 80 mJy. We model and subtract the surface brightness distribution for 130 systems, where we identify a candidate for the foreground lens candidate. After combining visual inspection, archival high-resolution observations, and lens subtraction, we divide the systems into different classes according to their lensing likelihood. We confirm 65 systems to be lensed. Of these, 30 are new discoveries. We successfully perform lens modelling and source reconstruction on 23 systems, where the foreground lenses are isolated galaxies and the background sources are detected in the HST images. All the systems are successfully modelled as a singular isothermal ellipsoid. The Einstein radii of the lenses and the magnifications of the background sources are consistent with previous studies. However, the background source circularized radii (between 0.34 and 1.30 kpc) are ∼3 times smaller than the ones measured in the sub-millimetre/millimetre for a similarly selected and partially overlapping sample. We compare our lenses with those in the Sloan Lens Advanced Camera for Surveys (ACS) Survey confirming that our lens-independent selection is more effective at picking up fainter and diffuse galaxies and group lenses. This sample represents the first step towards characterizing the near-infrared properties and stellar masses of the gravitationally lensed dusty star-forming galaxies.
|
|
| 7. |
|
|
| 8. |
- Vetrano, DL, et al.
(författare)
-
Frailty detection among primary care older patients through the Primary Care Frailty Index (PC-FI)
- 2023
-
Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 13:1, s. 3543-
-
Tidskriftsartikel (refereegranskat)abstract
- The prompt identification of frailty in primary care is the first step to offer personalized care to older individuals. We aimed to detect and quantify frailty among primary care older patients, by developing and validating a primary care frailty index (PC-FI) based on routinely collected health records and providing sex-specific frailty charts. The PC-FI was developed using data from 308,280 primary care patients ≥ 60 years old part of the Health Search Database (HSD) in Italy (baseline 2013–2019) and validated in the Swedish National Study on Aging and Care in Kungsholmen (SNAC-K; baseline 2001–2004), a well-characterized population-based cohort including 3363 individuals ≥ 60 years old. Potential health deficits part of the PC-FI were identified through ICD-9, ATC, and exemption codes and selected through an optimization algorithm (i.e., genetic algorithm), using all-cause mortality as the main outcome for the PC-FI development. The PC-FI association at 1, 3 and 5 years, and discriminative ability for mortality and hospitalization were tested in Cox models. The convergent validity with frailty-related measures was verified in SNAC-K. The following cut-offs were used to define absent, mild, moderate and severe frailty: < 0.07, 0.07–0.14, 0.14–0.21, and ≥ 0.21. Mean age of HSD and SNAC-K participants was 71.0 years (55.4% females). The PC-FI included 25 health deficits and showed an independent association with mortality (hazard ratio range 2.03–2.27; p < 0.05) and hospitalization (hazard ratio range 1.25–1.64; p < 0.05) and a fair-to-good discriminative ability (c-statistics range 0.74–0.84 for mortality and 0.59–0.69 for hospitalization). In HSD 34.2%, 10.9% and 3.8% were deemed mildly, moderately, and severely frail, respectively. In the SNAC-K cohort, the associations between PC-FI and mortality and hospitalization were stronger than in the HSD and PC-FI scores were associated with physical frailty (odds ratio 4.25 for each 0.1 increase; p < 0.05; area under the curve 0.84), poor physical performance, disability, injurious falls, and dementia. Almost 15% of primary care patients ≥ 60 years old are affected by moderate or severe frailty in Italy. We propose a reliable, automated, and easily implementable frailty index that can be used to screen the primary care population for frailty.
|
|
| 9. |
- Vetrano, DL, et al.
(författare)
-
Frailty detection among primary care older patients through the Primary Care Frailty Index (PC-FI)
- 2023
-
Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 13:1, s. 3543-
-
Tidskriftsartikel (refereegranskat)abstract
- The prompt identification of frailty in primary care is the first step to offer personalized care to older individuals. We aimed to detect and quantify frailty among primary care older patients, by developing and validating a primary care frailty index (PC-FI) based on routinely collected health records and providing sex-specific frailty charts. The PC-FI was developed using data from 308,280 primary care patients ≥ 60 years old part of the Health Search Database (HSD) in Italy (baseline 2013–2019) and validated in the Swedish National Study on Aging and Care in Kungsholmen (SNAC-K; baseline 2001–2004), a well-characterized population-based cohort including 3363 individuals ≥ 60 years old. Potential health deficits part of the PC-FI were identified through ICD-9, ATC, and exemption codes and selected through an optimization algorithm (i.e., genetic algorithm), using all-cause mortality as the main outcome for the PC-FI development. The PC-FI association at 1, 3 and 5 years, and discriminative ability for mortality and hospitalization were tested in Cox models. The convergent validity with frailty-related measures was verified in SNAC-K. The following cut-offs were used to define absent, mild, moderate and severe frailty: < 0.07, 0.07–0.14, 0.14–0.21, and ≥ 0.21. Mean age of HSD and SNAC-K participants was 71.0 years (55.4% females). The PC-FI included 25 health deficits and showed an independent association with mortality (hazard ratio range 2.03–2.27; p < 0.05) and hospitalization (hazard ratio range 1.25–1.64; p < 0.05) and a fair-to-good discriminative ability (c-statistics range 0.74–0.84 for mortality and 0.59–0.69 for hospitalization). In HSD 34.2%, 10.9% and 3.8% were deemed mildly, moderately, and severely frail, respectively. In the SNAC-K cohort, the associations between PC-FI and mortality and hospitalization were stronger than in the HSD and PC-FI scores were associated with physical frailty (odds ratio 4.25 for each 0.1 increase; p < 0.05; area under the curve 0.84), poor physical performance, disability, injurious falls, and dementia. Almost 15% of primary care patients ≥ 60 years old are affected by moderate or severe frailty in Italy. We propose a reliable, automated, and easily implementable frailty index that can be used to screen the primary care population for frailty.
|
|
