| 1. |
- Pelletier, F., et al.
(författare)
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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
- 2021
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Ingår i: Journal of Clinical Endocrinology & Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 106:2
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Tidskriftsartikel (refereegranskat)abstract
- Context: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. Objective: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. Design: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. Setting: This was a multicenter retrospective study using information collected from 3 predominant centers. Patients: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. Main Outcome Measures: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. Results: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. Conclusions: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder.
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| 2. |
- Barzakh, A., et al.
(författare)
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Large Shape Staggering in Neutron-Deficient Bi Isotopes
- 2021
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Ingår i: Physical Review Letters. - 0031-9007. ; 127:19
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Tidskriftsartikel (refereegranskat)abstract
- The changes in the mean-square charge radius (relative to Bi209), magnetic dipole, and electric quadrupole moments of Bi187,188,189,191 were measured using the in-source resonance-ionization spectroscopy technique at ISOLDE (CERN). A large staggering in radii was found in Bi187,188,189g, manifested by a sharp radius increase for the ground state of Bi188 relative to the neighboring Bi187,189g. A large isomer shift was also observed for Bi188m. Both effects happen at the same neutron number, N=105, where the shape staggering and a similar isomer shift were observed in the mercury isotopes. Experimental results are reproduced by mean-field calculations where the ground or isomeric states were identified by the blocked quasiparticle configuration compatible with the observed spin, parity, and magnetic moment. © 2021 authors.
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| 4. |
- Mukai, M., et al.
(författare)
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In-gas-cell laser resonance ionization spectroscopy of Ir-196,Ir-197,Ir-198
- 2020
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Ingår i: Physical Review C. - : American Physical Society. - 2469-9985 .- 2469-9993. ; 102:5
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Tidskriftsartikel (refereegranskat)abstract
- Hyperfine structure (HFS) measurements of neutron-rich iridium isotopes Ir-196,Ir-197,Ir-198 (Z = 77, N = 119-121) were performed via in-gas-cell laser resonance ionization spectroscopy at the KEK Isotope Separation System. Magnetic dipole moments mu and isotope shifts were determined from the HFS spectra. The variation of mean-square charge radii and quadrupole deformation parameters of these isotopes were evaluated from the isotope shifts. The mu value of (197)h, agreed with a theoretical value based on the strong coupling model, and the Ir nucleus was interpreted as prolately deformed by the theoretical calculations. The mu values of Ir-196,Ir-198 were also compared with semiempirical values calculated based on the strong coupling model. From the comparison, we can suggest the possible spin values of I-pi = 1,2(-) for Ir-196 and I-pi = 1(-) for Ir-198.
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| 6. |
- Anderson, Beverley H., et al.
(författare)
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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 338-342
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Tidskriftsartikel (refereegranskat)abstract
- Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous gamma H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the alpha-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-alpha primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.
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| 10. |
- Kristiansson, Moa K., et al.
(författare)
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Experimental and theoretical studies of excited states in Ir
- 2021
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Ingår i: Physical Review A. - : American Physical Society. - 2469-9926 .- 2469-9934. ; 103:6
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Tidskriftsartikel (refereegranskat)abstract
- The properties of atomic negative ions are to a large extent determined by electron-electron correlation which makes them an ideal testing ground for atomic many-body physics. In this paper, we present a detailed experimental and theoretical study of excited states in the negative ion of iridium. The ions were stored at cryogenic temperatures using the double electrostatic ion ring experiment facility at Stockholm University. Laser photodetachment was used to monitor the relaxation of three bound excited states belonging to the [Xe] 4f(14)5d(8)6s(2) ionic ground configuration. Our measurements show that the first excited state has a lifetime much longer than the ion-beam storage time of 1230 +/- 100 s. The binding energy of this state was measured to be 1.045 +/- 0.002 eV. The lifetimes of the second and third excited states were experimentally determined to be 133 +/- 10 and 172 +/- 35 ms, respectively. Multiconfiguration Dirac-Hartree-Fock calculations were performed in order to extract binding energies and lifetimes. These calculations predict the existence of the third excited bound state that was detected experimentally. The computed lifetimes for the three excited bound states agree well with the experimental results and allow for a clear identification of the detected levels.
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| 11. |
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| 12. |
- Papoulia, Asimina, et al.
(författare)
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Ab initio electronic factors of the A and B hyperfine structure constants for the 5s(2)5p6s( 1,3)P(1)(0) states in Sn I
- 2021
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Ingår i: Physical Review A: covering atomic, molecular, and optical physics and quantum information. - : American Physical Society. - 2469-9926 .- 2469-9934. ; 103:2
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Tidskriftsartikel (refereegranskat)abstract
- Large-scale ab initio calculations of the electronic contribution to the electric quadrupole hyperfine constant B were performed for the 5s(2)5p6s( 1,3)P(1)(0)excited states of neutral tin. To probe the sensitivity of B to different electron correlation effects, three sets of variational multiconfiguration Dirac-Hartree-Fock and relativistic configuration interaction calculations employing different strategies were carried out. In addition, a fourth set of calculations was based on the configuration interaction Dirac-Fock-Sturm theory. For the 5s(2)5p6s( 1)P(1)(0) state, the final value of B/Q = 703(50) MHz/b differs by 0.4% from the one recently used by Yordanov et al. [Commun. Phys. 3, 107 (2020)] to extract the nuclear quadrupole moments Q for tin isotopes in the range Sn117-131 from collinear laser spectroscopy measurements. Efforts were made to provide a realistic theoretical uncertainty for the final B/Q value of the 5s(2)5p6s( 1)P(1)(0) state based on statistical principles and on correlation with the electronic contribution to the magnetic dipole hyperfine constant A.
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| 13. |
- Papoulia, Asimina, et al.
(författare)
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Ab initio electronic factors of the A and B hyperfine structure constants for the 5s25p6s1,3P01 states in Sn I
- 2021
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Ingår i: Physical Review A. - 2469-9926. ; 103:2
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Tidskriftsartikel (refereegranskat)abstract
- Large-scale ab initio calculations of the electronic contribution to the electric quadrupole hyperfine constant B were performed for the 5s25p6s1,3Po1 excited states of neutral tin. To probe the sensitivity of B to different electron correlation effects, three sets of variational multiconfiguration Dirac-Hartree-Fock and relativistic configuration interaction calculations employing different strategies were carried out. In addition, a fourth set of calculations was based on the configuration interaction Dirac-Fock-Sturm theory. For the 5s25p6s 1Po1 state, the final value of B/Q=703(50) MHz/b differs by 0.4% from the one recently used by Yordanov et al. [Commun. Phys. 3, 107 (2020)] to extract the nuclear quadrupole moments Q for tin isotopes in the range 117−131Sn from collinear laser spectroscopy measurements. Efforts were made to provide a realistic theoretical uncertainty for the final B/Q value of the 5s25p6s 1Po1 state based on statistical principles and on correlation with the electronic contribution to the magnetic dipole hyperfine constant A.
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| 15. |
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| 16. |
- Schiffmann, S., et al.
(författare)
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Relativistic radial electron density functions and natural orbitals from GRASP2018
- 2022
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Ingår i: Computer Physics Communications. - : Elsevier BV. - 0010-4655 .- 1879-2944. ; 278
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Tidskriftsartikel (refereegranskat)abstract
- A new module, RDENSITY, of the GRASP2018 package [1] is presented for evaluating the radial electron density function of an atomic state described by a multiconfiguration Dirac-Hartree-Fock or configuration interaction wave function in the fully relativistic scheme. The present module is the relativistic version of DENSITY [2] that was developed for the ATSP2K package [3]. The calculation of the spin-angular factors entering in the expression of the expectation value of the density operator is performed using the angular momentum theory in orbital, spin, and quasispin spaces, adopting a generalized graphical technique [4]. The natural orbitals (NOs) are evaluated from the diagonalization of the density matrix, taking advantage of its κ-block structure. The features of the code are discussed in detail, focusing on the advantages and properties of the NOs and on the electron radial density picture as a mean for investigating electron correlation and relativistic effects.
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| 17. |
- von Euler, G., et al.
(författare)
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Coactivation of dopamine D1 and D2 receptors increases the affinity of cholecystokinin-8 receptors in membranes from post-mortem human caudate-putamen
- 1992
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Ingår i: Brain Research. - Amsterdam, Netherlands : Elsevier. - 0006-8993 .- 1872-6240. ; 584:1-2, s. 157-162
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Tidskriftsartikel (refereegranskat)abstract
- The effects of dopamine in vitro were investigated on the binding sites for cholecystokinin-8 (sulphated, CCK-8) and neurotensin in membrane preparations of the caudate-putamen and nucleus accumbens of post-mortem human brains. Dopamine reduced the IC50 value of competition curves with CCK-8 for [125I]CCK-8 binding in membranes from the caudate-putamen, but not the nucleus accumbens, with a maximal decrease of -25 +/- 9% at 300 nM of dopamine. This decrease could be antagonized by 100 nM of SCH 23390 or 100 nM of raclopride. Kinetic analysis of [125I]CCK-8 binding showed a decrease in the first order dissociation rate constant and in the kinetic Kd (-22 +/- 6% and -24 +/- 6%, respectively) at 300 nM of dopamine, without any significant effect on the apparent or actual association rate constant. Competition curves with neurotensin versus [125I]neurotensin were not affected by dopamine (10-1000 nM) in membranes from the caudate-putamen or the nucleus accumbens. These results suggest that dopamine, by synergistic stimulation of both D1 and D2 receptors, selectively increases the affinity of CCK-8 receptors in the human caudate-putamen, by a selective inhibition of ligand dissociation. This increase may reflect a positive feed-back mechanism, further enhancing the modulatory effects of CCK-8 on dopamine neurotransmission.
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| 18. |
- Wang, K., et al.
(författare)
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Benchmarking Atomic Data from Large-scale Multiconfiguration Dirac Hartree Fock Calculations for Astrophysics : S-like Ions from Cr IX to Cu XIV
- 2018
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Ingår i: Astrophysical Journal Supplement Series. - : Bibliopolis, Edizioni di Filosofia e Scienze. - 0067-0049 .- 1538-4365. ; 239:2
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Tidskriftsartikel (refereegranskat)abstract
- We present a consistent set of calculated energies and El, Ml, E2, M2 radiative transition data for the main n = 3 levels from the 3s(2)3p(4), 3p(6), 3s3p(4)3d, 3s(2)3p(2)3d(2), 3s3p(5), 3s(2)3p(3)3d, and 3s3p(3)3d(2) configurations for S-like ions from Cr TX to Cu XIV. The fully relativistic multiconfiguration Dirac Hartree Fock method implemented in the GRASP2K code is used to perform the present calculations. The excitation energies of the lowest 47 levels from the 3s(2)3p(4), 3s3p(5), and 3s(2)3p3 3d configurations, producing the strongest lines, are found to be in good agreement, reaching spectroscopic accuracy, with the latest experimental values for Fe XI evaluated by Del Zanna. Our energies can reliably be used to identify in astrophysical and laboratory spectra the 3s(2)3p(3) 3d levels in other S-like ions, which are mostly unknown. On the contrary, significant discrepancies with the 3s3p(4)3d levels were found, emphasizing the need for more detailed experimental studies. A few new tentative identifications are suggested. The benchmarks we present indicate that our consistent set of radiative data is accurate and can be used for spectral line modeling.
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