| 1. |
- Pelletier, F., et al.
(författare)
-
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
- 2021
-
Ingår i: Journal of Clinical Endocrinology & Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 106:2
-
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.
|
|
| 2. |
- Barzakh, A., et al.
(författare)
-
Large Shape Staggering in Neutron-Deficient Bi Isotopes
- 2021
-
Ingår i: Physical Review Letters. - 0031-9007. ; 127:19
-
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.
|
|
| 3. |
|
|
| 4. |
- Mukai, M., et al.
(författare)
-
In-gas-cell laser resonance ionization spectroscopy of Ir-196,Ir-197,Ir-198
- 2020
-
Ingår i: Physical Review C. - : American Physical Society. - 2469-9985 .- 2469-9993. ; 102:5
-
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.
|
|
| 5. |
|
|
| 6. |
- Anderson, Beverley H., et al.
(författare)
-
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
- 2012
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 338-342
-
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.
|
|
| 7. |
|
|
| 8. |
|
|
| 9. |
|
|
| 10. |
- Kristiansson, Moa K., et al.
(författare)
-
Experimental and theoretical studies of excited states in Ir
- 2021
-
Ingår i: Physical Review A. - : American Physical Society. - 2469-9926 .- 2469-9934. ; 103:6
-
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.
|
|
