| 1. |
- Blokland, G. A. M., et al.
(författare)
-
Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders
- 2022
-
Ingår i: Biological Psychiatry. - : Elsevier BV. - 0006-3223 .- 1873-2402. ; 91:1, s. 102-117
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Sex differences in incidence and/or presentation of schizophrenia (SCZ), major depressive disorder (MDD), and bipolar disorder (BIP) are pervasive. Previous evidence for shared genetic risk and sex differences in brain abnormalities across disorders suggest possible shared sex-dependent genetic risk. Methods: We conducted the largest to date genome-wide genotype-by-sex (G×S) interaction of risk for these disorders using 85,735 cases (33,403 SCZ, 19,924 BIP, and 32,408 MDD) and 109,946 controls from the PGC (Psychiatric Genomics Consortium) and iPSYCH. Results: Across disorders, genome-wide significant single nucleotide polymorphism–by-sex interaction was detected for a locus encompassing NKAIN2 (rs117780815, p = 3.2 × 10−8), which interacts with sodium/potassium-transporting ATPase (adenosine triphosphatase) enzymes, implicating neuronal excitability. Three additional loci showed evidence (p < 1 × 10−6) for cross-disorder G×S interaction (rs7302529, p = 1.6 × 10−7; rs73033497, p = 8.8 × 10−7; rs7914279, p = 6.4 × 10−7), implicating various functions. Gene-based analyses identified G×S interaction across disorders (p = 8.97 × 10−7) with transcriptional inhibitor SLTM. Most significant in SCZ was a MOCOS gene locus (rs11665282, p = 1.5 × 10−7), implicating vascular endothelial cells. Secondary analysis of the PGC-SCZ dataset detected an interaction (rs13265509, p = 1.1 × 10−7) in a locus containing IDO2, a kynurenine pathway enzyme with immunoregulatory functions implicated in SCZ, BIP, and MDD. Pathway enrichment analysis detected significant G×S interaction of genes regulating vascular endothelial growth factor receptor signaling in MDD (false discovery rate-corrected p < .05). Conclusions: In the largest genome-wide G×S analysis of mood and psychotic disorders to date, there was substantial genetic overlap between the sexes. However, significant sex-dependent effects were enriched for genes related to neuronal development and immune and vascular functions across and within SCZ, BIP, and MDD at the variant, gene, and pathway levels. © 2021 Society of Biological Psychiatry
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
|
|
| 7. |
- Addazi, A., et al.
(författare)
-
New high-sensitivity searches for neutrons converting into antineutrons and/or sterile neutrons at the HIBEAM/NNBAR experiment at the European Spallation Source
- 2021
-
Ingår i: Journal of Physics G. - : Institute of Physics Publishing (IOPP). - 0954-3899 .- 1361-6471. ; 48:7
-
Tidskriftsartikel (refereegranskat)abstract
- The violation of baryon number, , is an essential ingredient for the preferential creation of matter over antimatter needed to account for the observed baryon asymmetry in the Universe. However, such a process has yet to be experimentally observed. The HIBEAM/NNBAR program is a proposed two-stage experiment at the European Spallation Source to search for baryon number violation. The program will include high-sensitivity searches for processes that violate baryon number by one or two units: free neutron–antineutron oscillation () via mixing, neutron–antineutron oscillation via regeneration from a sterile neutron state (), and neutron disappearance (n → n'); the effective process of neutron regeneration () is also possible. The program can be used to discover and characterize mixing in the neutron, antineutron and sterile neutron sectors. The experiment addresses topical open questions such as the origins of baryogenesis and the nature of dark matter, and is sensitive to scales of new physics substantially in excess of those available at colliders. A goal of the program is to open a discovery window to neutron conversion probabilities (sensitivities) by up to three orders of magnitude compared with previous searches. The opportunity to make such a leap in sensitivity tests should not be squandered. The experiment pulls together a diverse international team of physicists from the particle (collider and low energy) and nuclear physics communities, while also including specialists in neutronics and magnetics.
|
|
| 8. |
|
|
| 9. |
|
|
| 10. |
|
|
| 11. |
|
|
| 12. |
|
|
| 13. |
|
|
| 14. |
- Schiava, M., et al.
(författare)
-
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
- 2022
-
Ingår i: Journal of Neurology Neurosurgery and Psychiatry. - : BMJ. - 0022-3050 .- 1468-330X. ; 93:10, s. 1099-1111
-
Tidskriftsartikel (refereegranskat)abstract
- Background Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations. Methods Descriptive retrospective international study collecting clinical and genetic data of patients with mutations in the VCP gene. Results Two hundred and fifty-five patients (70.0% males) were included in the study. Mean age was 56.8 +/- 9.6 years and mean age of onset 45.6 +/- 9.3 years. Mean diagnostic delay was 7.7 +/- 6 years. Symmetric lower limb weakness was reported in 50% at onset progressing to generalised muscle weakness. Other common symptoms were ventilatory insufficiency 40.3%, PDB 28.2%, dysautonomia 21.4% and FTD 14.3%. Fifty-seven genetic variants were identified, 18 of these no previously reported. c.464G>A (p.Arg155His) was the most frequent variant, identified in the 28%. Full time wheelchair users accounted for 19.1% with a median time from disease onset to been wheelchair user of 8.5 years. Variant c.463C>T (p.Arg155Cys) showed an earlier onset (37.8 +/- 7.6 year) and a higher frequency of axial and upper limb weakness, scapular winging and cognitive impairment. Forced vital capacity (FVC) below 50% was as risk factor for being full-time wheelchair user, while FVC Conclusion This study expands the knowledge on the phenotypic presentation, natural history, genotype-phenotype correlations and risk factors for disease progression of VCP disease and is useful to improve the care provided to patient with this complex disease.
|
|
| 15. |
|
|
| 16. |
|
|
| 17. |
- Jégou, F., et al.
(författare)
-
Validation of Odin/SMR limb observations of ozone, comparisons with OSIRIS, POAM III, ground-based and balloon-borne intruments
- 2008
-
Ingår i: Atmospheric Chemistry and Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 8:13, s. 3385-3409
-
Tidskriftsartikel (refereegranskat)abstract
- The Odin satellite carries two instruments capable of determining stratospheric ozone profiles by limb sounding: the Sub-Millimetre Radiometer (SMR) and the UV-visible spectrograph of the OSIRIS (Optical Spectrograph and InfraRed Imager System) instrument. A large number of ozone profiles measurements were performed during six years from November 2001 to present. This ozone dataset is here used to make quantitative comparisons with satellite measurements in order to assess the quality of the Odin/SMR ozone measurements. In a first step, we compare Swedish SMR retrievals version 2.1, French SMR ozone retrievals version 222 (both from the 501.8 GHz band), and the OSIRIS retrievals version 3.0, with the operational version 4.0 ozone product from POAM III (Polar Ozone Atmospheric Measurement). In a second step, we refine the Odin/SMR validation by comparisons with ground-based instruments and balloon-borne observations. We use observations carried out within the framework of the Network for Detection of Atmospheric Composition Change (NDACC) and balloon flight missions conducted by the Canadian Space Agency (CSA), the Laboratoire de Physique et de Chimie de l\'{}Environnement (LPCE, Orléans, France), and the Service d'Aéronomie (SA, Paris, France). Coincidence criteria were 5° in latitude×10° in longitude, and 5 h in time in Odin/POAM III comparisons, 12 h in Odin/NDACC comparisons, and 72 h in Odin/balloons comparisons. An agreement is found with the POAM III experiment (10–60 km) within −0.3±0.2 ppmv (bias±standard deviation) for SMR (v222, v2.1) and within −0.5±0.2 ppmv for OSIRIS (v3.0). Odin ozone mixing ratio products are systematically slightly lower than the POAM III data and show an ozone maximum lower by 1–5 km in altitude. The comparisons with the NDACC data (10–34 km for ozonesonde, 10–50 km for lidar, 10–60 for microwave instruments) yield a good agreement within −0.15±0.3 ppmv for the SMR data and −0.3±0.3 ppmv for the OSIRIS data. Finally the comparisons with instruments on large balloons (10–31 km) show a good agreement, within −0.7±1 ppmv. The official SMR v2.1 dataset is consistent in all altitude ranges with POAM III, NDACC and large balloon-borne instruments measurements. In the SMR v2.1 data, no different systematic error has been found in the 0–35km range in comparison with the 35–60 km range. The same feature has been highlighted in both hemispheres in SMR v2.1/POAM III intercomparisons, and no latitudinal dependence has been revealed in SMR v2.1/NDACC intercomparisons.
|
|
| 18. |
|
|
| 19. |
- Ryzhov, I.V., et al.
(författare)
-
Fragment-mass distributions in neutron-induced fission of 232Th and 238U at 33, 45, and 60 MeV
- 2011
-
Ingår i: Physical Review C. Nuclear Physics. - 0556-2813 .- 1089-490X. ; 83:5, s. 054603-
-
Tidskriftsartikel (refereegranskat)abstract
- We have measured fission fragment-mass yields for neutron-induced fission of Th-232 and U-238 at energies 32.8, 45.3, and 59.9 MeV. The experiments were done at quasimonoenergetic neutron beams of the Cyclotron Research Center at Louvain-la-Neuve. To detect the fission fragments, a multisection Frisch-gridded ionization chamber was used. The measurement and data analysis techniques are discussed in detail. The obtained mass yields are compared to model calculations with the intermediate-energy nuclear reaction code MCFX. The MCFX code is used to calculate the fraction of fissioning nuclei after cascade, preequilibrium, and statistical reaction stages. The formation of mass distributions is considered as a result of oscillations of the mass-asymmetry degree of freedom in the potential well calculated with the temperature-dependent shell correction method. The experimental results as well as the results of the model calculations demonstrate that the probability of symmetric fission increases with incident neutron energy for both nuclei. The comparison also shows that the symmetric fission is more enhanced for thorium than for uranium with increasing neutron energy. We also compare U-238 results with available experimental data; the Th-232 data were measured for the first time.
|
|
| 20. |
- Andersson, P., et al.
(författare)
-
An upgrade of the SCANDAL setup for measurements of elastic neutron scattering at 175 MeV
- 2010
-
Ingår i: RADIATION MEASUREMENTS. - : Elsevier BV. ; 45:10, s. 1142-1144
-
Konferensbidrag (refereegranskat)abstract
- The experimental setup SCANDAL used for measurements of the differential cross section for elastic and inelastic neutron scattering, has recently been upgraded with larger CsI scintillating detectors to enable measurements at energies up to 175 MeV. Measurements on Fe. Bi and Si have been carried out using the quasi mono-energetic neutron beam at the The Svedberg Laboratory, and data is under analysis. The experimental setup can be used for measurements on a wide range of target nuclei, including C and O, which are important for dosimetry applications. SCANDAL can also run in proton mode, for measurements of the (n,p) reaction. This paper describes the new experimental setup, and reports on its properties, such as energy resolution.
|
|
| 21. |
- Bevilacqua, Riccardo, et al.
(författare)
-
A procedure for the characterization of electron transmission through Frisch grids
- 2015
-
Ingår i: Nuclear Instruments and Methods in Physics Research Section A. - : Elsevier. - 0168-9002 .- 1872-9576 .- 0167-5087. ; 770, s. 64-67
-
Tidskriftsartikel (refereegranskat)abstract
- In Frisch grid ionization chambers special attention must be paid to the operating voltages in order to avoid unwanted collection of electrons on the Frisch grid. Collection of electrons on the grid will lead to a decreased signal to noise ratio and consequently a deteriorated energy resolution. Furthermore, systematic errors in the determination of the angular distribution will be introduced. Theoretical formulas for minimized collection of electrons on the grid were derived by Bunemann et al. [3] in the special case of a Frisch grid consisting of a plane of parallel wires. No such formulas exist for other grid geometries and a careful calibration procedure is needed. We describe here a procedure for characterizing the Frisch grid in terms of its transparency to electrons for a grid consisting of a mesh of crossed wires.
|
|
| 22. |
|
|
| 23. |
- Bevilacqua, Riccardo, et al.
(författare)
-
Light-ion Production from O, Si, Fe and Bi Induced by 175 MeV Quasi-monoenergetic Neutrons
- 2014
-
Ingår i: Nuclear Data Sheets. - : Elsevier BV. - 0090-3752 .- 1095-9904. ; 119, s. 190-193
-
Tidskriftsartikel (refereegranskat)abstract
- We have measured double-differential cross sections in the interaction of 175 MeV quasimonoenergetic neutrons with O, Si, Fe and Bi. We have compared these results with model calculations with INCL4.5-Abla07, MCNP6 and TALYS-1.2. We have also compared our data with PHITS calculations, where the pre-equilibrium stage of the reaction was accounted respectively using the JENDL/HE-2007 evaluated data library, the quantum molecular dynamics model (QMD) and a modified version of QMD (MQMD) to include a surface coalescence model. The most crucial aspect is the formation and emission of composite particles in the pre-equilibrium stage.
|
|
| 24. |
- Bevilacqua, Riccardo, et al.
(författare)
-
Light-Ion Production in the Interaction of 175 MeV Neutrons with Iron and Bismuth
- 2011
-
Ingår i: Journal of the Korean Physical Society. - : Korean Physical Society. - 0374-4884 .- 1976-8524. ; 59:2, s. 1701-1704
-
Tidskriftsartikel (refereegranskat)abstract
- We have measured double-differential (angle and energy) cross sections for light-ion (p, d, t, (3)He, and a) production in the interaction of quasi-monoenergetic 175 MeV neutrons with iron and bismuth. Measurements have been performed at the The Svedberg Laboratory, Uppsala (Sweden), using the Medley setup which allows low-energy thresholds and wide energy and angular ranges. Medley is a spectrometer system consisting of eight three-element telescopes placed at angles from 20 degrees to 160 degrees, in steps of 20 degrees. Each telescope is composed of two silicon surface barrier detectors and a CsI(Tl) scintillator, to perform particle identification, fully stop the produced light-ions and measure their kinetic energy. The time-of-flight was used to reduce the contribution from the low energy tail in the accepted incident neutron spectrum. We report double-differential production cross sections for protons, deuterons, tritons, (3)He and alpha particles and compare them with model calculations with TALYS-1.2.
|
|
| 25. |
- Bevilacqua, R., et al.
(författare)
-
Neutron induced light-ion production from Iron and Bismuth at 175 MeV
- 2010
-
Ingår i: CNR*09 - Second International Workshop on Compound Nuclear Reactions and Related Topics. - : EDP Sciences. - 9782759805211 ; , s. 05005-
-
Konferensbidrag (refereegranskat)abstract
- We have measured light-ion (p, d, t, 3He and α) production in the interaction of 175 MeV neutrons with iron and bismuth, using the MEDLEY setup. A large set of measurements at 96 MeV has been recently completed and published, and now higher energy region is under investigation. MEDLEY is a conventional spectrometer system that allows low-energy thresholds and offers measurements over a wide angular range. The system consists of eight telescopes, each of them composed of two silicon surface barrier detectors, to perform particle identification, and a CsI(Tl) scintillator to fully measure the kinetic energy of the produced light-ions. The telescopes are placed at angles from 20° to 160°, in steps of 20°. Measurements have been performed at The Svedberg Laboratory, Uppsala (Sweden), where a quasi mono-energetic neutron beam is available and well characterized. Time of flight techniques are used to select light-ion events induced by neutrons in the main peak of the source neutron spectrum. We report preliminary double differential cross sections for production of protons, deuterons and tritons in comparison with model calculations using TALYS-1.0 code.
|
|
