| 1. |
- Simpson, J., et al.
(författare)
-
Evolution of structure and shapes in Er 158 to ultrahigh spin
- 2023
-
Ingår i: Physical Review C. - 2469-9985. ; 107:5
-
Tidskriftsartikel (refereegranskat)abstract
- The level structure of Er158 has been studied using the Gammasphere spectrometer via the Cd114(Ca48,4n) reaction at 215 MeV with both thin (self-supporting) and thick (backed) targets. The level scheme has been considerably extended with more than 200 new transitions and six new rotational structures, including two strongly coupled high-K bands. Configuration assignments for the new structures are based on their observed alignments, B(M1)/B(E2) ratios of reduced transition probabilities, excitation energies, and comparisons with neighboring nuclei and theoretical calculations. With increasing angular momentum, this nucleus exhibits Coriolis-induced alignments of both neutrons and protons before it then undergoes a rotation-induced transition from near-prolate collective rotation to a noncollective oblate configuration. This transition occurs via the mechanism of band termination around spin 45ħ in three rotational structures. Two distinct lifetime branches, consistent with the crossing of a collective "fast"rotational structure by an energetically favored "slow"terminating sequence, are confirmed for the positive-parity states, and similar behavior is established in the negative-parity states. Weak-intensity, high-energy transitions are observed to feed into the terminating states. At the highest spins, three collective bands with high dynamic moments of inertia and large quadrupole moments were identified. These bands are interpreted as triaxial strongly deformed structures and mark a return to collectivity at ultrahigh spin.
|
|
| 2. |
- Casar Borota, Olivera, et al.
(författare)
-
Corticotroph Aggressive Pituitary Tumors and Carcinomas Frequently Harbor ATRX Mutations
- 2021
-
Ingår i: Journal of Clinical Endocrinology & Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 106:4, s. 1183-1194
-
Tidskriftsartikel (refereegranskat)abstract
- Context: Aggressive pituitary tumors (APTs) are characterized by unusually rapid growth and lack of response to standard treatment. About 1% to 2% develop metastases being classified as pituitary carcinomas (PCs). For unknown reasons, the corticotroph tumors are overrepresented among APTs and PCs. Mutations in the alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene, regulating chromatin remodeling and telomere maintenance, have been implicated in the development of several cancer types, including neuroendocrine tumors. Objective: To study ATRX protein expression and mutational status of the ATRX gene in APTs and PCs. Design: We investigated ATRX protein expression by using immunohistochemistry in 30 APTs and 18 PCs, mostly of Pit-1 and T-Pit cell lineage. In tumors lacking ATRX immunolabeling, mutational status of the ATRX gene was explored. Results: Nine of the 48 tumors (19%) demonstrated lack of ATRX immunolabelling with a higher proportion in patients with PCs (5/18; 28%) than in those with APTs (4/30;13%). Lack of ATRX was most common in the corticotroph tumors, 7/22 (32%), versus tumors of the Pit-1 lineage, 2/24 (8%). Loss-of-function ATRX mutations were found in all 9 ATRX immunonegative cases: nonsense mutations (n = 4), frameshift deletions (n = 4), and large deletions affecting 22-28 of the 36 exons (n = 3). More than 1 ATRX gene defect was identified in 2 PCs. Conclusion: ATRX mutations occur in a subset of APTs and are more common in corticotroph tumors. The findings provide a rationale for performing ATRX immunohistochemistry to identify patients at risk of developing aggressive and potentially metastatic pituitary tumors.
|
|
| 3. |
- Cherenko, M., et al.
(författare)
-
Venous thromboembolism in Cushing syndrome: results from an EuRRECa and Endo-ERN survey
- 2024
-
Ingår i: Endocrine Connections. - 2049-3614. ; 13:6
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Patients with Cushing syndrome (CS) are at increased risk of venous thromboembolism (VTE). Objective: The aim was to evaluate the current management of new cases of CS with a focus on VTE and thromboprophylaxis. Design and methods: A survey was conducted within those that report in the electronic reporting tool (e-REC) of the European Registries for Rare Endocrine Conditions (EuRRECa) and the involved main thematic groups (MTG’s) of the European Reference Networks for Rare Endocrine Disorders (Endo-ERN) on new patients with CS from January 2021 to July 2022. Results: Of 222 patients (mean age 44 years, 165 females), 141 patients had Cushing disease (64%), 69 adrenal CS (31%), and 12 patients with ectopic CS (5.4%). The mean follow-up period post-CS diagnosis was 15 months (range 3–30). Cortisol-lowering medications were initiated in 38% of patients. One hundred fifty-four patients (69%) received thromboprophylaxis (including patients on chronic anticoagulant treatment), of which low-molecular-weight heparins were used in 96% of cases. VTE was reported in six patients (2.7%), of which one was fatal: two long before CS diagnosis, two between diagnosis and surgery, and two postoperatively. Three patients were using thromboprophylaxis at time of the VTE diagnosis. The incidence rate of VTE in patients after Cushing syndrome diagnosis in our study cohort was 14.6 (95% CI 5.5; 38.6) per 1000 person-years. Conclusion: Thirty percent of patients with CS did not receive preoperative thromboprophylaxis during their active disease stage, and half of the VTE cases even occurred during this stage despite thromboprophylaxis. Prospective trials to establish the optimal thromboprophylaxis strategy in CS patients are highly needed. Significance statement The incidence rate of venous thromboembolism in our study cohort was 14.6 (95% CI 5.5; 38.6) per 1000 person-years. Notably, this survey showed that there is great heterogeneity regarding time of initiation and duration of thromboprophylaxis in expert centers throughout Europe.
|
|
| 4. |
- Einarsdottir, MJ, et al.
(författare)
-
Response to Letter to the Editor
- 2024
-
Ingår i: Oral diseases. - 1601-0825.
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
|
|
| 5. |
- Mikaelsdottir, E, et al.
(författare)
-
Genetic variants associated with platelet count are predictive of human disease and physiological markers
- 2021
-
Ingår i: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 4:1, s. 1132-
-
Tidskriftsartikel (refereegranskat)abstract
- Platelets play an important role in hemostasis and other aspects of vascular biology. We conducted a meta-analysis of platelet count GWAS using data on 536,974 Europeans and identified 577 independent associations. To search for mechanisms through which these variants affect platelets, we applied cis-expression quantitative trait locus, DEPICT and IPA analyses and assessed genetic sharing between platelet count and various traits using polygenic risk scoring. We found genetic sharing between platelet count and counts of other blood cells (except red blood cells), in addition to several other quantitative traits, including markers of cardiovascular, liver and kidney functions, height, and weight. Platelet count polygenic risk score was predictive of myeloproliferative neoplasms, rheumatoid arthritis, ankylosing spondylitis, hypertension, and benign prostate hyperplasia. Taken together, these results advance understanding of diverse aspects of platelet biology and how they affect biological processes in health and disease.
|
|
| 6. |
- Sithole, M. A., et al.
(författare)
-
Low- And medium-spin negative-parity bands in the Os 187 nucleus
- 2021
-
Ingår i: Physical Review C. - 2469-9985. ; 103:2
-
Tidskriftsartikel (refereegranskat)abstract
- Low- and medium-spin negative-parity bands of Os187 have been studied using the AFRican Omnipurpose Detector for Innovative Techniques and Experiments (AFRODITE) array, following the W186(He4,3n)Os187 reaction at a beam energy of 37 MeV. In the current work, all the previously known bands have been significantly extended and three new bands have been added to the level scheme. The angular distribution ratio (RAD) and polarization measurements have been used to assign spin and parity to the observed new levels. The configurations of some of the bands have been modified. The observed bands are interpreted within the cranked shell model (CSM) and cranked Nilsson-Strutinsky-Bogoliubov (CNSB) formalism. Comparison with experimental data shows good agreements. Systematic comparison with the neighboring Os185 isotope is also discussed.
|
|
