| 51. |
- Batkovskyte, D., et al.
(författare)
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Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
- 2023
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Ingår i: Journal of Bone and Mineral Research. - : Wiley. - 0884-0431 .- 1523-4681. ; 38:5, s. 692-706
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Tidskriftsartikel (refereegranskat)abstract
- Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al-Gazali type, is an ultra-rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al-Gazali skeletal dysplasia has up until now been unknown. Through international collaborative efforts involving seven clinical centers worldwide, a cohort of nine patients with clinical and radiographic features consistent with short-limb skeletal dysplasia Al-Gazali type was collected. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly. Biallelic disease-causing variants in ADAMTSL2 were detected using massively parallel sequencing (MPS) and Sanger sequencing techniques. Six individuals were compound heterozygous and one individual was homozygous for pathogenic variants in ADAMTSL2. In one of the families, pathogenic variants were detected in parental samples only. Overall, this study sheds light on the genetic cause of Al-Gazali skeletal dysplasia and identifies it as a semi-lethal part of the spectrum of ADAMTSL2-related disorders. Furthermore, we highlight the importance of meticulous analysis of the pseudogene region of ADAMTSL2 where disease-causing variants might be located.
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| 52. |
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| 53. |
- Davies, P. J., et al.
(författare)
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The role of core excitations in the structure and decay of the 16(+) spin-gap isomer in Cd-96
- 2017
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Ingår i: Physics Letters B. - : Elsevier. - 0370-2693 .- 1873-2445. ; 767, s. 474-479
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Tidskriftsartikel (refereegranskat)abstract
- The first evidence for beta-delayed proton emission from the 16(+) spin gap isomer in Cd-96 is presented. The data were obtained from the Rare Isotope Beam Factory, at the RIKEN Nishina Center, using the BigRIPS spectrometer and the EURICA decay station. beta p branching ratios for the ground state and 16(+) isomer have been extracted along with more precise lifetimes for these states and the lifetime for the ground state decay of Cd-95. Large scale shell model (LSSM) calculations have been performed and WKB estimates made for l = 0, 2, 4 proton emission from three resonance-like states in Ag-96, that are populated by the beta decay of the isomer, and the results compared to the new data. The calculations suggest that l = 2 proton emission from the resonance states, which reside similar to 5 MeV above the proton separation energy, dominates the proton decay. The results highlight the importance of core-excited wavefunction components for the 16(+) state.
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| 54. |
- Fukuda, M., et al.
(författare)
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Reaction cross section studies at NIRS and RIBF
- 2010
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Ingår i: American Institute of Physics Conference Series. - American Institute of Physics : AIP. ; , s. 270-273
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Konferensbidrag (refereegranskat)abstract
- Reaction cross sections for stable nuclei at intermediate energies have been measured precisely and systematically. The data have been found to be reproduced nicely by the optical‐limit approximation of Glauber theory modified to include the nucleon multiple scattering effect and the Fermi‐motion effect. Applying this prescription, the nucleon density distribution of 17Ne has been studied. The surface structure of 8B and 11Be has been also studied using this prescription and hydrogen targets. Using the RIBF that has just started application to studies of exotic nuclei, neutron‐rich Ne isotopes around the Island of Inversion have been investigated through measurements of their interaction cross sections.
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| 55. |
- Garcia, E. Victor, et al.
(författare)
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SCExAO AND GPI Y JH BAND PHOTOMETRY AND INTEGRAL FIELD SPECTROSCOPY OF THE YOUNG BROWN DWARF COMPANION TO HD 1160
- 2017
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Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 834:2
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Tidskriftsartikel (refereegranskat)abstract
- We present high signal-to-noise ratio, precise Y JH photometry and Y band (0.957-1.120 mu m) spectroscopy of HD 1160 B, a young substellar companion discovered from the Gemini NICI Planet Finding Campaign using the Subaru Coronagraphic Extreme Adaptive Optics instrument and the Gemini Planet Imager. HD 1160 B has typical mid-M dwarf-like infrared colors and a spectral type of M5.5(-0.5)(+1.0), where the blue edge of our Y band spectrum rules out earlier spectral types. Atmospheric modeling suggests HD 1160 B has an effective temperature of 3000-3100 K, a surface gravity of log g - 4-4.5, a radius of. 1.55 +/- 0.10 R-J, and a luminosity of log L/L circle dot - 2.76 +/- 0.05. Neither the primary's Hertzspring-Russell diagram position nor atmospheric modeling of HD 1160 B show evidence for a subsolar metallicity. Interpretation of the HD 1160 B spectroscopy depends on which stellar system components are used to estimate the age. Considering HD 1160 A, B and C jointly, we derive an age of 80-125 Myr, implying that HD 1160 B straddles the hydrogen-burning limit (70-90 M-J) If we consider HD 1160 A alone, younger ages (20-125 Myr) and a brown dwarf-like mass (35-90 M-J) are possible. Interferometric measurements of the primary, a precise Gaia parallax, and moderate-resolution spectroscopy can better constrain the system's age and how HD 1160 B fits within the context of (sub) stellar evolution.
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| 56. |
- Grady, C., et al.
(författare)
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The outer disks of Herbig stars from the UV to NIR
- 2015
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Ingår i: Astrophysics and Space Science. - : Springer Science and Business Media LLC. - 0004-640X .- 1572-946X. ; 355:2, s. 253-266
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Forskningsöversikt (refereegranskat)abstract
- Spatially-resolved imaging of Herbig stars and related objects began with HST, but intensified with commissioning of high-contrast imagers on 8-m class telescopes. The bulk of the data taken from the ground have been polarized intensity imagery at H-band, with the majority of the sources observed as part of the Strategic Exploration of Exoplanets and Disks with Subaru (SEEDS) survey. Sufficiently many systems have been imaged that we discuss disk properties in scattered, polarized light in terms of groups defined by the IR spectral energy distribution. We find novel phenomena in many of the disks, including spiral density waves, and discuss the disks in terms of clearing mechanisms. Some of the disks have sufficient data to map the dust and gas components, including water ice dissociation products.
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| 57. |
- Haefner, G., et al.
(författare)
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Properties of γ-decaying Isomers in the 100Sn Region Revisited
- 2019
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Ingår i: Acta Physica Polonica B. - : JAGIELLONIAN UNIV PRESS. - 0587-4254 .- 1509-5770. ; 50:3, s. 431-437
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Tidskriftsartikel (refereegranskat)abstract
- The study of nuclei in the region around the N = Z doubly-magic nucleus 100Sn has been of long standing interest for the nuclear structure and nuclear astrophysics. Recently, Park et al. have reported on properties of γ-decaying isomers and isomeric ratios in the vicinity of 100Sn. That experiment was performed at the Radioactive Ion Beam Factory (RIBF) of the RIKEN Nishina Center in Japan as a part of the EURICA campaign. Neutron-deficient nuclei were produced in a fragmentation reaction of a 124Xe primary beam on a 9Be target at an energy of 345 MeV/A. Secondary ions were separated and identified in the BigRIPS fragment separator and implanted in the silicon detector array WAS3ABi. The data presented here were obtained in another experiment performed at the RIBF using the same reaction but slightly different separator settings. New results of ratios of isomeric population and half-lives of γ-decaying isomers populated in the experiment are presented.
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| 58. |
- Helminiak, K. G., et al.
(författare)
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SEEDS DIRECT IMAGING OF THE RV-DETECTED COMPANION TO V450 ANDROMEDAE, AND CHARACTERIZATION OF THE SYSTEM
- 2016
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Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 832:1
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Tidskriftsartikel (refereegranskat)abstract
- We report the direct imaging detection of a low-mass companion to a young, moderately active star V450. And, that was previously identified with the radial velocity (RV) method. The companion was found in high-contrast images obtained with the Subaru Telescope equipped with the HiCIAO camera and AO188 adaptive optics system. From the public ELODIE and SOPHIE archives we extracted available high-resolution spectra and RV measurements, along with RVs from the Lick planet search program. We combined our multi-epoch astrometry with these archival, partially unpublished RVs, and found that the companion is a low-mass star, not a brown dwarf, as previously suggested. We found the best-fitting dynamical masses to be m(1) = 1.141(-0.091)(+0.037)and m(2) = 0.279(-0.020)(+0.023) M-circle dot. We also performed spectral analysis of the SOPHIE spectra with the iSpec code. Hipparcos time-series photometry shows a periodicity of P = 5.743 day, which is also seen in the SOPHIE spectra as an RV modulation of the star A. We interpret it as being caused by spots on the stellar surface, and the star to be rotating with the given period. From the rotation and level of activity, we found that the system is 380(-100)(+220) Myr old, consistent with an isochrone analysis (220(-90)(+2120) Myr). This work may serve as a test case for future studies of low-mass stars, brown dwarfs, and exoplanets by combination of RV and direct imaging data.
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| 59. |
- Häfner, G., et al.
(författare)
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Properties of γ-decaying isomers in the Sn 100 region populated in fragmentation of a Xe 124 beam
- 2019
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Ingår i: Physical Review C. - : American Physical Society. - 2469-9985 .- 2469-9993. ; 100:2
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Tidskriftsartikel (refereegranskat)abstract
- A systematic study was performed of microsecond γ-decaying isomers around Sn100 produced in a fragmentation reaction of a Xe124 beam at 345 MeV/u at the Radioactive Ion Beam Factory of the RIKEN Nishina Center in Saitama, Japan. Half-lives of isomeric states in that region were remeasured allowing us to improve the currently available experimental information. Reduced transition probabilities were deduced and compared to shell-model calculations in various model spaces. The recently reported low-energy transitions in Rh92 and Ag96 were remeasured with improved precision. Additionally, experimental information on isomeric ratios, including five new ones, were extracted and compared to a previous experimental study and the sharp cutoff model of fragmentation reaction.
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| 60. |
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