| 1. |
-
- 2019
-
Tidskriftsartikel (refereegranskat)
|
|
| 2. |
- Abdellaoui, G., et al.
(författare)
-
Meteor studies in the framework of the JEM-EUSO program
- 2017
-
Ingår i: Planetary and Space Science. - : Elsevier. - 0032-0633 .- 1873-5088. ; 143, s. 245-255
-
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.
|
|
| 3. |
- Abdellaoui, G., et al.
(författare)
-
First observations of speed of light tracks by a fluorescence detector looking down on the atmosphere
- 2018
-
Ingår i: Journal of Instrumentation. - : IOP PUBLISHING LTD. - 1748-0221. ; 13
-
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.
|
|
| 4. |
- Faatz, B., et al.
(författare)
-
Simultaneous operation of two soft x-ray free-electron lasers driven by one linear accelerator
- 2016
-
Ingår i: New Journal of Physics. - : IOP Publishing. - 1367-2630. ; 18
-
Tidskriftsartikel (refereegranskat)abstract
- Extreme-ultraviolet to x-ray free-electron lasers (FELs) in operation for scientific applications are up to now single-user facilities. While most FELs generate around 100 photon pulses per second, FLASH at DESY can deliver almost two orders of magnitude more pulses in this time span due to its superconducting accelerator technology. This makes the facility a prime candidate to realize the next step in FELs-dividing the electron pulse trains into several FEL lines and delivering photon pulses to several users at the same time. Hence, FLASH has been extended with a second undulator line and self-amplified spontaneous emission (SASE) is demonstrated in both FELs simultaneously. FLASH can now deliver MHz pulse trains to two user experiments in parallel with individually selected photon beam characteristics. First results of the capabilities of this extension are shown with emphasis on independent variation of wavelength, repetition rate, and photon pulse length.
|
|
| 5. |
- Kehoe, Laura, et al.
(författare)
-
Make EU trade with Brazil sustainable
- 2019
-
Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 364:6438, s. 341-
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
|
|
| 6. |
- Bisconti, F, et al.
(författare)
-
Mini-EUSO engineering model : Tests in open-sky condition
- 2019
-
Ingår i: 36th International Cosmic Ray Conference, ICRC 2019. - : Sissa Medialab Srl.
-
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.
|
|
| 7. |
- Casolino, M, et al.
(författare)
-
Mini-EUSO experiment to study UV emission of terrestrial and astrophysical origin onboard of the International Space Station
- 2019
-
Ingår i: 36th International Cosmic Ray Conference, ICRC 2019. - : Sissa Medialab Srl.
-
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.
|
|
| 8. |
- Miyamoto, H, et al.
(författare)
-
Space debris detection and tracking with the techniques of cosmic ray physics
- 2019
-
Ingår i: 36th International Cosmic Ray Conference, ICRC 2019. - : Sissa Medialab Srl.
-
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.
|
|
| 9. |
- Miyamoto, H., et al.
(författare)
-
The Euso@turlab : Test of mini-EUSO engineering model
- 2019
-
Ingår i: Proceedings of Science. - : Sissa Medialab Srl.
-
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.
|
|
| 10. |
- Marcelli, L., et al.
(författare)
-
Integration, qualification, and launch of the Mini-EUSO telescope on board the ISS
- 2023
-
Ingår i: Rendiconti Lincei SCIENZE FISICHE E NATURALI. - : Springer Nature. - 2037-4631 .- 1720-0776. ; 34:1, s. 23-35
-
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.
|
|
| 11. |
- Bisconti, F., et al.
(författare)
-
Pre-flight qualification tests of the Mini-EUSO telescope engineering model
- 2022
-
Ingår i: Experimental astronomy. - : Springer Nature. - 0922-6435 .- 1572-9508. ; 53:1, s. 133-158
-
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.
|
|
| 12. |
- Barrillon, P., et al.
(författare)
-
The EUSO@TurLab project in the framework of the JEM-EUSO program
- 2023
-
Ingår i: Experimental astronomy. - : Springer Nature. - 0922-6435 .- 1572-9508. ; 55:2, s. 569-602
-
Tidskriftsartikel (refereegranskat)abstract
- The EUSO@TurLab project aims at performing experiments to reproduce Earth UV emissions as seen from a low Earth orbit by the planned missions of the JEM-EUSO program. It makes use of the TurLab facility, which is a laboratory, equipped with a 5 m diameter and 1 m depth rotating tank, located at the Physics Department of the University of Turin. All the experiments are designed and performed based on simulations of the expected response of the detectors to be flown in space. In April 2016 the TUS detector and more recently in October 2019 the Mini-EUSO experiment, both part of the JEM-EUSO program, have been placed in orbit to map the UV Earth emissions. It is, therefore, now possible to compare the replicas performed at TurLab with the actual images detected in space to understand the level of fidelity in terms of reproduction of the expected signals. We show that the laboratory tests reproduce at the order of magnitude level the measurements from space in terms of spatial extension and time duration of the emitted UV light, as well as the intensity in terms of expected counts per pixel per unit time when atmospheric transient events, diffuse nightlow background light, and artificial light sources are considered. Therefore, TurLab is found to be a very useful facility for testing the acquisition logic of the detectors of the present and future missions of the JEM-EUSO program and beyond in order to reproduce atmospheric signals in the laboratory.
|
|
| 13. |
- Suino, G., et al.
(författare)
-
Simulations of Mini-EUSO observations of UV phenomena in the atmosphere
- 2017
-
Ingår i: Proceedings of Science. - Trieste, Italy : Sissa Medialab Srl.
-
Konferensbidrag (refereegranskat)abstract
- The Mini-EUSO instrument is an UV telescope to be placed aboard the International Space Station (ISS) in the framework of the JEM-EUSO project. Mini-EUSO will map the Earth in the UV range (300-400 nm) with a spatial resolution of 5 km and a temporal resolution of 2.5 μs. Therefore, Mini-EUSO offers an excellent opportunity to study a variety of physics phenomena such as transient luminous events and meteors, as well as searching for strange quark matter and test the detection of space debris. Mini-EUSO will serve also as a pathfinder for the study of Extreme Energy Cosmic Rays from space. A review on the expected performance of Mini-EUSO in detecting a variety of physical phenomena simulated with the EUSO Simulation and Analysis Framework (ESAF) package is described.
|
|
| 14. |
|
|
| 15. |
- Cambié, G., et al.
(författare)
-
Integration and qualification of the Mini-EUSO telescope on board the ISS
- 2022
-
Ingår i: 37th International Cosmic Ray Conference, ICRC 2021. - : Sissa Medialab Srl.
-
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.
|
|
| 16. |
|
|
| 17. |
- Kostecka, A, et al.
(författare)
-
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing
- 2022
-
Ingår i: NPJ breast cancer. - : Springer Science and Business Media LLC. - 2374-4677. ; 8:1, s. 76-
-
Tidskriftsartikel (refereegranskat)abstract
- The mammary gland undergoes hormonally stimulated cycles of proliferation, lactation, and involution. We hypothesized that these factors increase the mutational burden in glandular tissue and may explain high cancer incidence rate in the general population, and recurrent disease. Hence, we investigated the DNA sequence variants in the normal mammary gland, tumor, and peripheral blood from 52 reportedly sporadic breast cancer patients. Targeted resequencing of 542 cancer-associated genes revealed subclonal somatic pathogenic variants of: PIK3CA, TP53, AKT1, MAP3K1, CDH1, RB1, NCOR1, MED12, CBFB, TBX3, and TSHR in the normal mammary gland at considerable allelic frequencies (9 × 10−2– 5.2 × 10−1), indicating clonal expansion. Further evaluation of the frequently damaged PIK3CA and TP53 genes by ultra-sensitive duplex sequencing demonstrated a diversified picture of multiple low-level subclonal (in 10−2–10−4 alleles) hotspot pathogenic variants. Our results raise a question about the oncogenic potential in non-tumorous mammary gland tissue of breast-conserving surgery patients.
|
|
| 18. |
|
|
| 19. |
- Bruder, Carl E G, et al.
(författare)
-
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
- 2008
-
Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 82:3, s. 763-71
-
Tidskriftsartikel (refereegranskat)abstract
- The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype by using two platforms for genome-wide CNV analyses and showed that CNVs exist within pairs in both groups. These findings have an impact on our views of genotypic and phenotypic diversity in monozygotic twins and suggest that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool for identifying disease-predisposition loci. Our results also imply that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics.
|
|
| 20. |
- Buckley, Patrick G., et al.
(författare)
-
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2
- 2005
-
Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 26:6, s. 540-9
-
Tidskriftsartikel (refereegranskat)abstract
- Schwannomatosis is characterized by multiple peripheral and cranial nerve schwannomas that occur in the absence of bilateral 8th cranial nerve schwannomas. The latter is the main diagnostic criterion of neurofibromatosis type 2 (NF2), which is a related but distinct disorder. The genetic factors underlying the differences between schwannomatosis and NF2 are poorly understood, although available evidence implicates chromosome 22 as the primary location of the gene(s) of interest. To investigate this, we comprehensively profiled the DNA copy number in samples from sporadic and familial schwannomatosis, NF2, and a large cohort of normal controls. Using a tiling-path chromosome 22 genomic array, we identified two candidate regions of copy number variation, which were further characterized by a PCR-based array with higher resolution. The latter approach allows the detection of minute alterations in total genomic DNA, with as little as 1.5 kb per measurement point of nonredundant sequence on the array. In DNA derived from peripheral blood from a schwannomatosis patient and a sporadic schwannoma sample, we detected rearrangements of the immunoglobulin lambda (IGL) locus, which is unlikely to be due to a B-cell specific somatic recombination of IGL. Analysis of normal controls indicated that these IGL rearrangements were restricted to schwannomatosis/schwannoma samples. In the second candidate region spanning GSTT1 and CABIN1 genes, we observed a frequent copy number polymorphism at the GSTT1 locus. We further describe missense mutations in the CABIN1 gene that are specific to samples from schwannomatosis and NF2 and make this gene a plausible candidate for contributing to the pathogenesis of these disorders.
|
|
| 21. |
|
|
| 22. |
|
|
| 23. |
- Dumanski, Jan P., et al.
(författare)
-
Immune cells lacking Y chromosome show dysregulation of autosomal gene expression
- 2021
-
Ingår i: Cellular and Molecular Life Sciences (CMLS). - : Springer. - 1420-682X .- 1420-9071. ; 78:8, s. 4019-4033
-
Tidskriftsartikel (refereegranskat)abstract
- Epidemiological investigations show that mosaic loss of chromosome Y (LOY) in leukocytes is associated with earlier mortality and morbidity from many diseases in men. LOY is the most common acquired mutation and is associated with aberrant clonal expansion of cells, yet it remains unclear whether this mosaicism exerts a direct physiological effect. We studied DNA and RNA from leukocytes in sorted- and single-cells in vivo and in vitro. DNA analyses of sorted cells showed that men diagnosed with Alzheimer’s disease was primarily affected with LOY in NK cells whereas prostate cancer patients more frequently displayed LOY in CD4 + T cells and granulocytes. Moreover, bulk and single-cell RNA sequencing in leukocytes allowed scoring of LOY from mRNA data and confirmed considerable variation in the rate of LOY across individuals and cell types. LOY-associated transcriptional effect (LATE) was observed in ~ 500 autosomal genes showing dysregulation in leukocytes with LOY. The fraction of LATE genes within specific cell types was substantially larger than the fraction of LATE genes shared between different subsets of leukocytes, suggesting that LOY might have pleiotropic effects. LATE genes are involved in immune functions but also encode proteins with roles in other diverse biological processes. Our findings highlight a surprisingly broad role for chromosome Y, challenging the view of it as a “genetic wasteland”, and support the hypothesis that altered immune function in leukocytes could be a mechanism linking LOY to increased risk for disease.
|
|
| 24. |
- Fenu, F., et al.
(författare)
-
Preliminary analysis of EUSO - TA data
- 2016
-
Ingår i: Journal of Physics, Conference Series. - : Institute of Physics Publishing (IOPP). - 1742-6588 .- 1742-6596. ; 718:5
-
Tidskriftsartikel (refereegranskat)abstract
- The EUSO-TA detector is a pathfinder for the JEM-EUSO project and is currently installed in Black Rock Mesa (Utah) on the site of the Telescope Array fluorescence detectors. Aim of this experiment is to validate the observation principle of JEM-EUSO on air showers measured from ground. The experiment gets data in coincidence with the TA triggers to increase the likelihood of cosmic ray detection. In this framework the collaboration is also testing the detector response with respect to several test events from lasers and LED flashers. Moreover, another aim of the project is the validation of the stability of the data acquisition chain in real sky condition and the optimization of the trigger scheme for the rejection of background. Data analysis is ongoing to identify cosmic ray events in coincidence with the TA detector. In this contribution we will show the response of the EUSO-TA detector to all the different typologies of events and we will show some preliminary results on the trigger optimization performed on such data.
|
|
| 25. |
- Forsberg, Lars A., et al.
(författare)
-
Age-related somatic structural changes in the nuclear genome of human blood cells
- 2012
-
Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 90:2, s. 217-228
-
Tidskriftsartikel (refereegranskat)abstract
- Structural variations are among the most frequent interindividual genetic differences in the human genome. The frequency and distribution of de novo somatic structural variants in normal cells is, however, poorly explored. Using age-stratified cohorts of 318 monozygotic (MZ) twins and 296 single-born subjects, we describe age-related accumulation of copy-number variation in the nuclear genomes in vivo and frequency changes for both megabase- and kilobase-range variants. Megabase-range aberrations were found in 3.4% (9 of 264) of subjects ≥60 years old; these subjects included 78 MZ twin pairs and 108 single-born individuals. No such findings were observed in 81 MZ pairs or 180 single-born subjects who were ≤55 years old. Recurrent region- and gene-specific mutations, mostly deletions, were observed. Longitudinal analyses of 43 subjects whose data were collected 7-19 years apart suggest considerable variation in the rate of accumulation of clones carrying structural changes. Furthermore, the longitudinal analysis of individuals with structural aberrations suggests that there is a natural self-removal of aberrant cell clones from peripheral blood. In three healthy subjects, we detected somatic aberrations characteristic of patients with myelodysplastic syndrome. The recurrent rearrangements uncovered here are candidates for common age-related defects in human blood cells. We anticipate that extension of these results will allow determination of the genetic age of different somatic-cell lineages and estimation of possible individual differences between genetic and chronological age. Our work might also help to explain the cause of an age-related reduction in the number of cell clones in the blood; such a reduction is one of the hallmarks of immunosenescence.
|
|
| 26. |
- Forsberg, Lars A., et al.
(författare)
-
Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer
- 2015
-
Ingår i: Genome Research. - : Cold Spring Harbor Laboratory. - 1088-9051 .- 1549-5469. ; 25:10, s. 1521-1535
-
Tidskriftsartikel (refereegranskat)abstract
- Sporadic breast cancer (SBC) is a common disease without robust means of early risk prediction in the population. We studied 282 females with SBC, focusing on copy number aberrations in cancer-free breast tissue (uninvolved margin, UM) outside the primary tumor (PT). In total, 1162 UMs (1-14 per breast) were studied. Comparative analysis between UM(s), PT(s), and blood/skin from the same patient as a control is the core of the study design. We identified 108 patients with at least one aberrant UM, representing 38.3% of cases. Gains in gene copy number were the principal type of mutations in microscopically normal breast cells, suggesting that oncogenic activation of genes via increased gene copy number is a predominant mechanism for initiation of SBC pathogenesis. The gain of ERBB2, with overexpression of HER2 protein, was the most common aberration in normal cells. Five additional growth factor receptor genes (EGFR, FGFR1, IGF1R, LIFR, and NGFR) also showed recurrent gains, and these were occasionally present in combination with the gain of ERBB2. All the aberrations found in the normal breast cells were previously described in cancer literature, suggesting their causative, driving role in pathogenesis of SBC. We demonstrate that analysis of normal cells from cancer patients leads to identification of signatures that may increase risk of SBC and our results could influence the choice of surgical intervention to remove all predisposing cells. Early detection of copy number gains suggesting a predisposition toward cancer development, long before detectable tumors are formed, is a key to the anticipated shift into a preventive paradigm of personalized medicine for breast cancer.
|
|
| 27. |
- Jonason, Peter K., et al.
(författare)
-
Country-level correlates of the Dark Triad traits in 49 countries
- 2020
-
Ingår i: Journal of personality. - : Wiley. - 0022-3506 .- 1467-6494. ; 88:6, s. 1252-1267
-
Tidskriftsartikel (refereegranskat)abstract
- Objectives: The Dark Triad traits (i.e., narcissism, psychopathy, Machiavellianism) capture individual differences in aversive personality to complement work on other taxonomies, such as the Big Five traits. However, the literature on the Dark Triad traits relies mostly on samples from English-speaking (i.e., Westernized) countries. We broadened the scope of this literature by sampling from a wider array of countries.Method: We drew on data from 49 countries (N = 11,723; 65.8% female;Age(Mean) = 21.53) to examine how an extensive net of country-level variables in economic status (e.g., Human Development Index), social relations (e.g., gender equality), political orientations (e.g., democracy), and cultural values (e.g., embeddedness) relate to country-level rates of the Dark Triad traits, as well as variance in the magnitude of sex differences in them.Results: Narcissism was especially sensitive to country-level variables. Countries with more embedded and hierarchical cultural systems weremorenarcissistic. Also, sex differences in narcissism werelargerinmoredeveloped societies: Women were less likely to be narcissistic in developed (vs. less developed) countries.Conclusions: We discuss the results based on evolutionary and social role models of personality and sex differences. That higher country-level narcissism was more common in less developed countries, whereas sex differences in narcissism were larger in more developed countries, is more consistent with evolutionary than social role models.
|
|
| 28. |
- Kaplan, L. P., et al.
(författare)
-
Plan quality assessment in clinical practice: Results of the 2020 ESTRO survey on plan complexity and robustness
- 2022
-
Ingår i: Radiotherapy and Oncology. - : Elsevier BV. - 0167-8140. ; 173, s. 254-261
-
Tidskriftsartikel (refereegranskat)abstract
- Purpose: Plan complexity and robustness are two essential aspects of treatment plan quality but there is a great variability in their management in clinical practice. This study reports the results of the 2020 ESTRO survey on plan complexity and robustness to identify needs and guide future discussions and con-sensus.Methods: A survey was distributed online to ESTRO members. Plan complexity was defined as the mod-ulation of machine parameters and increased uncertainty in dose calculation and delivery. Robustness was defined as a dose distribution's sensitivity towards errors stemming from treatment uncertainties, patient setup, or anatomical changes.Results: A total of 126 radiotherapy centres from 33 countries participated, 95 of them (75%) from Europe and Central Asia. The majority controlled and evaluated plan complexity using monitor units (56 centres) and aperture shapes (38 centres). To control robustness, 98 (97% of question responses) photon and 5 (50%) proton centres used PTV margins for plan optimization while 75 (94%) and 5 (50%), respectively, used margins for plan evaluation. Seventeen (21%) photon and 8 (80%) proton centres used robust opti-misation, while 10 (13%) and 8 (80%), respectively, used robust evaluation. Primary uncertainties consid-ered were patient setup (photons and protons) and range calculation uncertainties (protons). Participants expressed the need for improved commercial tools to control and evaluate plan complexity and robust-ness.Conclusion: Clinical implementation of methods to control and evaluate plan complexity and robustness is very heterogeneous. Better tools are needed to manage complexity and robustness in treatment plan-ning systems. International guidelines may promote harmonization.(c) 2022 The Authors. Published by Elsevier B.V. Radiotherapy and Oncology 173 (2022) 254-261 This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
|
|
| 29. |
- Mantripragada, K K, et al.
(författare)
-
Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.
- 2006
-
Ingår i: Journal of medical genetics. - : BMJ. - 1468-6244 .- 0022-2593. ; 43:1, s. 28-38
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Segmental duplications flanking the neurofibromatosis type 1 (NF1) gene locus on 17q11 mediate most gene deletions in NF1 patients. However, the large size of the gene and the complexity of the locus architecture pose difficulties in deletion analysis. We report the construction and application of the first NF1 locus specific microarray, covering 2.24 Mb of 17q11, using a non-redundant approach for array design. The average resolution of analysis for the array is approximately 12 kb per measurement point with an increased average resolution of 6.4 kb for the NF1 gene. METHODS: We performed a comprehensive array-CGH analysis of 161 NF1 derived samples and identified heterozygous deletions of various sizes in 39 cases. The typical deletion was identified in 26 cases, whereas 13 samples showed atypical deletion profiles. RESULTS: The size of the atypical deletions, contained within the segment covered by the array, ranged from 6 kb to 1.6 Mb and their breakpoints could be accurately determined. Moreover, 10 atypical deletions were observed to share a common breakpoint either on the proximal or distal end of the deletion. The deletions identified by array-CGH were independently confirmed using multiplex ligation-dependent probe amplification. Bioinformatic analysis of the entire locus identified 33 segmental duplications. CONCLUSIONS: We show that at least one of these segmental duplications, which borders the proximal breakpoint located within the NF1 intron 1 in five atypical deletions, might represent a novel hot spot for deletions. Our array constitutes a novel and reliable tool offering significantly improved diagnostics for this common disorder.
|
|
| 30. |
- Marcelli, L., et al.
(författare)
-
The Mini-EUSO telescope on board the ISS: in-flight operations and performances
- 2022
-
Ingår i: Proceedings International Conference on Technology and Instrumentation in Particle Physics, TIPP 2021. - : IOP Publishing.
-
Konferensbidrag (refereegranskat)abstract
- Mini-EUSO is a high sensitivity imaging telescope that observes the Earth from the ISS in the ultraviolet band (2904÷430 nm), through the UV-transparent window in the Russian Zvezda module. The instrument, launched in 2019 as part of the ESA mission Beyond, has a field of view of 44°, a spatial resolution on the Earth surface of 6.3 km and a temporal resolution of 2.5 microseconds. The telescope detects UV emissions of cosmic, atmospheric and terrestrial origin on different time scales, from a few microseconds upwards. Mini-EUSO main detector 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 ancillary cameras to complement measurements in the near infrared and visible ranges, an array of Silicon-PhotoMultipliers and UV sensors to manage night-day transitions. In this work we will describe the in-flight operations and performances of the various instruments in the first months after launch.
|
|
| 31. |
- Mohammadi, Elyas, et al.
(författare)
-
Size matters : the impact of nucleus size on results from spatial transcriptomics
- 2023
-
Ingår i: Journal of Translational Medicine. - : Springer Nature. - 1479-5876. ; 21:1
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Visium Spatial Gene Expression (ST) is a method combining histological spatial information with transcriptomics profiles directly from tissue sections. The use of spatial information has made it possible to discover new modes of gene expression regulations. However, in the ST experiment, the nucleus size of cells may exceed the thickness of a tissue slice. This may, in turn, negatively affect comprehensive capturing the transcriptomics profile in a single slice, especially for tissues having large differences in the size of nuclei.Methods: Here, we defined the effect of Consecutive Slices Data Integration (CSDI) on unveiling accurate spot clustering and deconvolution of spatial transcriptomic spots in human postmortem brains. By considering the histological information as reference, we assessed the improvement of unsupervised clustering and single nuclei RNA-seq and ST data integration before and after CSDI.Results: Apart from the escalated number of defined clusters representing neuronal layers, the pattern of clusters in consecutive sections was concordant only after CSDI. Besides, the assigned cell labels to spots matches the histological pattern of tissue sections after CSDI.Conclusion: CSDI can be applied to investigate consecutive sections studied with ST in the human cerebral cortex, avoiding misinterpretation of spot clustering and annotation, increasing accuracy of cell recognition as well as improvement in uncovering the layers of grey matter in the human brain.
|
|
| 32. |
- Piotrowski, L. W., et al.
(författare)
-
Mini-EUSO data processing and quasi-real time analysis
- 2017
-
Ingår i: Proceedings of Science. - : Sissa Medialab Srl.
-
Konferensbidrag (refereegranskat)abstract
- Mini-EUSO is a telescope that will observe ultra-violet night-time light emission of Earth. It will watch the atmosphere through a UV transparent window of the International Space Station. The main data stream is composed of regularly sampled exposures integrated on three different time scales: microseconds, milliseconds and seconds. This, accompanied by visible and near infra red images will be sent to Earth on hard drives for analysis. We present here the general dataprocessing scheme for the mission, including the data format and the tools for quick view and first analysis of the collected data.
|
|
| 33. |
- Polanska, Dominika, 1980-, et al.
(författare)
-
Wstęp
- 2018
-
Ingår i: Skłoting w Europie Środkowej i Rosji<em> </em>. - Gdansk : European Solidarity Centre. - 9788362853854 ; , s. 5-20
-
Bokkapitel (övrigt vetenskapligt/konstnärligt)
|
|
| 34. |
- Rogoza, Radoslaw, et al.
(författare)
-
Structure of Dark Triad Dirty Dozen Across Eight World Regions
- 2021
-
Ingår i: Assessment (Odessa, Fla.). - : SAGE Publications. - 1073-1911 .- 1552-3489. ; 28:4, s. 1125-1135
-
Tidskriftsartikel (refereegranskat)abstract
- The Dark Triad (i.e., narcissism, psychopathy, Machiavellianism) has garnered intense attention over the past 15 years. We examined the structure of these traits' measure-the Dark Triad Dirty Dozen (DTDD)-in a sample of 11,488 participants from three W.E.I.R.D. (i.e., North America, Oceania, Western Europe) and five non-W.E.I.R.D. (i.e., Asia, Middle East, non-Western Europe, South America, sub-Saharan Africa) world regions. The results confirmed the measurement invariance of the DTDD across participants' sex in all world regions, with men scoring higher than women on all traits (except for psychopathy in Asia, where the difference was not significant). We found evidence for metric (and partial scalar) measurement invariance within and between W.E.I.R.D. and non-W.E.I.R.D. world regions. The results generally support the structure of the DTDD.
|
|
| 35. |
|
|
| 36. |
- Uldal Hansen, Lena, et al.
(författare)
-
A cross-validated three-dimensional model of an englacial and subglacial drainage system in a High-Arctic glacier
- 2020
-
Ingår i: Journal of Glaciology. - : Cambridge University Press (CUP). - 0022-1430 .- 1727-5652. ; 67:256, s. 1-13
-
Tidskriftsartikel (refereegranskat)abstract
- Recent speleological surveys of meltwater drainage systems in cold and polythermal glaciers have documented dynamic englacial and in some cases subglacial conduits formed by the ‘cut-and- closure’ mechanism. Investigations of the spatial distribution of such conduits often require a combination of different methods. Here, we studied the englacial drainage system in the cold gla- cier Longyearbreen, Svalbard by combining speleological exploration of a 478 m long meltwater conduit with a high-resolution ground penetrating radar (GPR) survey with two different centre- frequencies (25 and 100 MHz). The results yielded a 3-D documentation of the present englacial drainage system. The study shows that the overall form of englacial conduits can be detected from velocity−depth converted GPR data, and that the 3-D model can facilitate a method to pinpoint the reflections in a radargram corresponding with the englacial drainage system, although fine detail cannot be resolved. Visible reflections approximately parallel to the mapped englacial water drainage system likely result from sediment incorporated in the ice or from abandoned parts of the englacial drainage system.
|
|
| 37. |
- Zemojtel-Piotrowska, Magdalena A., et al.
(författare)
-
Measurement of Psychological Entitlement in 28 Countries
- 2017
-
Ingår i: European Journal of Psychological Assessment. - : Hogrefe & Huber Publishers. - 1015-5759 .- 2151-2426. ; 33:3, s. 207-217
-
Tidskriftsartikel (refereegranskat)abstract
- This article presents the cross-cultural validation of the Entitlement Attitudes Questionnaire, a tool designed to measure three facets of psychological entitlement: active, passive, and revenge entitlement. Active entitlement was defined as the tendency to protect individual rights based on self-worthiness. Passive entitlement was defined as the belief in obligations to and expectations toward other people and institutions for the fulfillment of the individual's needs. Revenge entitlement was defined as the tendency to protect one's individual rights when violated by others and the tendency to reciprocate insults. The 15-item EAQ was validated in a series of three studies: the first one on a general Polish sample (N = 1,900), the second one on a sample of Polish students (N = 199), and the third one on student samples from 28 countries (N = 5,979). A three-factor solution was confirmed across all samples. Examination of measurement equivalence indicated partial metric invariance of EAQ for all national samples. Discriminant and convergent validity of the EAQ was also confirmed.
|
|
