| 1. |
- Feroci, M., et al.
(author)
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The large observatory for x-ray timing
- 2014
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In: Proceedings of SPIE - The International Society for Optical Engineering. - : SPIE. - 9780819496126
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Conference paper (peer-reviewed)abstract
- The Large Observatory For x-ray Timing (LOFT) was studied within ESA M3 Cosmic Vision framework and participated in the final downselection for a launch slot in 2022-2024. Thanks to the unprecedented combination of effective area and spectral resolution of its main instrument, LOFT will study the behaviour of matter under extreme conditions, such as the strong gravitational field in the innermost regions of accretion flows close to black holes and neutron stars, and the supranuclear densities in the interior of neutron stars. The science payload is based on a Large Area Detector (LAD, 10 m2 effective area, 2-30 keV, 240 eV spectral resolution, 1° collimated field of view) and a Wide Field Monitor (WFM, 2-50 keV, 4 steradian field of view, 1 arcmin source location accuracy, 300 eV spectral resolution). The WFM is equipped with an on-board system for bright events (e.g. GRB) localization. The trigger time and position of these events are broadcast to the ground within 30 s from discovery. In this paper we present the status of the mission at the end of its Phase A study.
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| 2. |
- Feroci, M., et al.
(author)
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LOFT - The large observatory for x-ray timing
- 2012
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In: Proceedings of SPIE - The International Society for Optical Engineering. - : SPIE - International Society for Optical Engineering. - 9780819491442 ; , s. 84432D-
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Conference paper (peer-reviewed)abstract
- The LOFT mission concept is one of four candidates selected by ESA for the M3 launch opportunity as Medium Size missions of the Cosmic Vision programme. The launch window is currently planned for between 2022 and 2024. LOFT is designed to exploit the diagnostics of rapid X-ray flux and spectral variability that directly probe the motion of matter down to distances very close to black holes and neutron stars, as well as the physical state of ultradense matter. These primary science goals will be addressed by a payload composed of a Large Area Detector (LAD) and a Wide Field Monitor (WFM). The LAD is a collimated (<1 degree field of view) experiment operating in the energy range 2-50 keV, with a 10 m2 peak effective area and an energy resolution of 260 eV at 6 keV. The WFM will operate in the same energy range as the LAD, enabling simultaneous monitoring of a few-steradian wide field of view, with an angular resolution of <5 arcmin. The LAD and WFM experiments will allow us to investigate variability from submillisecond QPO's to yearlong transient outbursts. In this paper we report the current status of the project.
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| 3. |
- Kwon, J. Y., et al.
(author)
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Seeing the person before the numbers: Personas for understanding patients? life stories when using patient-reported outcome measures in practice settings
- 2023
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In: International Journal of Medical Informatics. - : Elsevier BV. - 1386-5056. ; 172
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Journal article (peer-reviewed)abstract
- Aims: While patient-reported outcome measures (PROMs) are increasingly being integrated into health infor-mation technologies, one challenge has been to assist clinicians in understanding how the responses to PROMs relate to patient stories for identifying and addressing the care needs of individual patients. Personas, hypo-thetical representations of patients, can be used as an innovative strategy to support clinicians' use of PROMs in their practice. These personas embody patients' life stories, making them a valuable tool for understanding the person when using PROMs. The aim of this project focused on cancer-related experiences to develop personas as a knowledge translation strategy to support clinicians' use of PROMs for person-centred cancer care. Methods: Eight older adults participated in online workshops (n = 2-3 participants/workshop; 1.5-hour sessions) to co-develop personas that reflected their collective experiences at a particular stage of their cancer journeys. Participants were asked to identify themes that focused on what the personas were thinking and feeling, what influenced how the personas acted, and the personas' overall goals. Participants subsequently completed an emotional well-being PROM from the perspective of the persona. Personas were further refined based on key themes identified during the workshop discussions. Results: Four personas representing the cumulative experiences of the workshop participants were developed to help clinicians link PROM responses to patient stories. These personas became the basis of four practice sce-narios, which were examples of interactions between a clinician and each persona, to demonstrate the use of PROMs in practice. Conclusion: Personas can be used to illustrate patients' life stories and contextualize PROMs data. As a knowledge translation strategy, personas can foster clinician awareness of how responses to PROMs can be used to initiate conversations to better understand patients' unique life situations.
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| 4. |
- Olive, M., et al.
(author)
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New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations
- 2015
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 24:13, s. 3638-3650
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Journal article (peer-reviewed)abstract
- Protein aggregate myopathies (PAMs) define muscle disorders characterized by protein accumulation in muscle fibres. We describe a new PAM in a patient with proximal muscle weakness and hypertrophic cardiomyopathy, whose muscle fibres contained inclusions containing myosin and myosin-associated proteins, and aberrant distribution of microtubules. These lesions appear as intact A- and M-bands lacking thin filaments and Z-discs. These features differ from inclusions in myosin storage myopathy (MSM), but are highly similar to those in mice deficient for the muscle-specific RING finger proteins MuRF1 and MuRF3. Sanger sequencing excluded mutations in the MSM-associated gene MYH7 but identified mutations in TRIM63 and TRIM54, encoding MuRF1 and MuRF3, respectively. No mutations in other potentially disease-causing genes were identified by Sanger and whole exome sequencing. Analysis of seven family members revealed that both mutations segregated in the family but only the homozygous TRIM63 null mutation in combination with the heterozygous TRIM54 mutation found in the proband caused the disease phenotype. Both MuRFs are microtubule-associated proteins localizing to sarcomeric M-bands and Z-discs. They are E3 ubiquitin ligases that play a role in degradation of sarcomeric proteins, stabilization of microtubules and myogenesis. Lack of ubiquitin and the 20S proteasome subunit in the inclusions found in the patient suggested impaired turnover of thick filament proteins. Disruption of microtubules in cultured myotubes was rescued by transient expression of wild-type MuRF1. The unique features of this novel myopathy point to defects in homeostasis of A-band proteins in combination with instability of microtubules as cause of the disease.
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