| 1. |
- Aad, G, et al.
(författare)
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- 2015
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swepub:Mat__t
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| 2. |
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| 3. |
- Bravo, L, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 4. |
- Tabiri, S, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 5. |
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| 6. |
- Glasbey, JC, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 7. |
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| 8. |
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| 9. |
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- 2019
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Tidskriftsartikel (refereegranskat)
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| 10. |
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| 11. |
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| 12. |
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| 13. |
- Tesi, B., et al.
(författare)
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Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
- 2015
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Ingår i: Genome Medicine. - : Springer Science and Business Media LLC. - 1756-994X. ; 7:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management. Here, we validated and prospectively evaluated a targeted high-throughput sequencing approach for HLH diagnostics. Methods: A high-throughput sequencing strategy of 12 genes linked to HLH was validated in 13 patients with previously identified HLH-associated mutations and prospectively evaluated in 58 HLH patients. Moreover, 2504 healthy individuals from the 1000 Genomes project were analyzed in silico for variants in the same genes. Results: Analyses revealed a mutation detection sensitivity of 97.3 %, an average coverage per gene of 98.0 %, and adequate coverage over 98.6 % of sites previously reported as mutated in these genes. In the prospective cohort, we achieved a diagnosis in 22 out of 58 patients (38 %). Genetically undiagnosed HLH patients had a later age at onset and manifested higher frequencies of known secondary HLH triggers. Rare, putatively pathogenic monoallelic variants were identified in nine patients. However, such monoallelic variants were not enriched compared with healthy individuals. Conclusions: We have established a comprehensive high-throughput platform for genetic screening of patients with HLH. Almost all cases with reduced natural killer cell function received a diagnosis, but the majority of the prospective cases remain genetically unexplained, highlighting genetic heterogeneity and environmental impact within HLH. Moreover, in silico analyses of the genetic variation affecting HLH-related genes in the general population suggest caution with respect to interpreting causality between monoallelic mutations and HLH. A complete understanding of the genetic susceptibility to HLH thus requires further in-depth investigations, including genome sequencing and detailed immunological characterization.
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| 14. |
- Miller, D. J., et al.
(författare)
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Oxidation of Pt(111) under Near-Ambient Conditions
- 2011
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Ingår i: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 107:19, s. 195502-
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Tidskriftsartikel (refereegranskat)abstract
- The oxidation of Pt(111) at near-ambient O(2) pressures has been followed in situ using x-ray photoelectron spectroscopy (XPS) and ex situ using x-ray absorption spectroscopy (XAS). Polarization-dependent XAS signatures at the O K edge reveal significant temperature-and pressure-dependent changes of the Pt-O interaction. Oxide growth commences via a PtO-like surface oxide that coexists with chemisorbed oxygen, while an ultrathin alpha-PtO(2) trilayer is identified as the precursor to bulk oxidation. These results have important implications for understanding the chemical state of Pt in catalysis.
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| 15. |
- Morrison, L., et al.
(författare)
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Dealing with contaminants in Coulomb excitation of radioactive beams
- 2020
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Ingår i: 27th International Nuclear Physics Conference (INPC2019) 29 July - 2 August 2019, Glasgow, UK. - : IOP Publishing. - 1742-6588. ; 1643
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Konferensbidrag (refereegranskat)abstract
- Data analysis of the Coulomb excitation experiment of the exotic 206Hg nucleus, recently performed at CERN's HIE-ISOLDE facility, needs to account for the contribution to target excitation due to the strongly-present beam contaminant 130Xe. In this paper, the contamination subtraction procedure is presented.
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| 16. |
- Morrison, L., et al.
(författare)
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Quadrupole and octupole collectivity in the semi-magic nucleus 20680Hg126
- 2023
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Ingår i: Physics Letters B. - : Elsevier BV. - 0370-2693. ; 838
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Tidskriftsartikel (refereegranskat)abstract
- The first low-energy Coulomb-excitation measurement of the radioactive, semi-magic, two proton-hole nucleus 206Hg, was performed at CERN's recently-commissioned HIE-ISOLDE facility. Two γ rays depopulating low-lying states in 206Hg were observed. From the data, a reduced transition strength B(E2; 2+1 → 0+1) = 4.4(6) W.u. was determined, the first such value for an N=126 nucleus south of 208Pb, which is found to be slightly lower than that predicted by shell-model calculations. In addition, a collective octupole state was identified at an excitation energy of 2705 keV, for which a reduced B(E3) transition probability of 30+10-30 W.u. was extracted. These results are crucial for understanding both quadrupole and octupole collectivity in the vicinity of the heaviest doubly-magic nucleus 208Pb, and for benchmarking a number of theoretical approaches in this key region. This is of particular importance given the paucity of data on transition strengths in this region, which could be used, in principle, to test calculations relevant to the astrophysical r-process.
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| 17. |
- Vogt, A., et al.
(författare)
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Isomers and high-spin structures in the N=81 isotones Xe-135 and Ba-137
- 2017
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Ingår i: PHYSICAL REVIEW C. - : AMER PHYSICAL SOC. - 2469-9985. ; 95:2
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Tidskriftsartikel (refereegranskat)abstract
- The high-spin structures and isomers of the N = 81 isotones Xe-135 and Ba-137 are investigated after multinucleon-transfer (MNT) and fusion-evaporation reactions. Both nuclei are populated (i) in Xe-136+ U-238 and (ii) Xe-136+ Pb-208 MNT reactions employing the high-resolution Advanced Gamma Tracking Array (AGATA) coupled to the magnetic spectrometer PRISMA, (iii) in the Xe-136+ Pt-198 MNT reaction employing the gamma-ray array GAMMASPHERE in combination with the gas-detector array CHICO, and (iv) via a B-11+ Te-130 fusion-evaporation reaction with the HORUS gamma-ray array at the University of Cologne. The high-spin level schemes of Xe-135 and Ba-137 are considerably extended to higher energies. The 2058-keV (19/2(-)) state in Xe-135 is identified as an isomer, closing a gap in the systematics along the N = 81 isotones. Its half-life is measured to be 9.0(9) ns, corresponding to a reduced transition probability of B(E2,19/2(-) -> 15/2(-)) = 0.52(6) W.u. The experimentally deduced reduced transition probabilities of the isomeric states are compared to shell-model predictions. Latest shell-model calculations reproduce the experimental findings generally well and provide guidance to the interpretation of the new levels.
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| 18. |
- Bouchal, Johannes M., 1979-
(författare)
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Reconciling the stratigraphy and depositional history of the Lycian orogen-top basins, SW Anatolia
- 2019
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Ingår i: Palaeobiodiversity and Palaeoenvironments. - Heidelberg : Springer Science and Business Media LLC. - 1867-1594 .- 1867-1608. ; 99, s. 551-570
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Tidskriftsartikel (refereegranskat)abstract
- Terrestrial fossil records from the SW Anatolian basins are crucial both for regional correlations and palaeoenvironmental reconstructions. By reassessing biostratigraphic constraints and incorporating new fossil data, we calibrated and reconstructed the late Neogene and Quaternary palaeoenvironments within a regional palaeogeographical framework. The culmination of the Taurides in SW Anatolia was followed by a regional crustal extension from the late Tortonian onwards that created a broad array of NE-trending orogen-top basins with synchronic associations of alluvial fan, fluvial and lacustrine deposits. The terrestrial basins are superimposed on the upper Burdigalian marine units with a c. 7 myr of hiatus that corresponds to a shift from regional shortening to extension. The initial infill of these basins is documented by a transition from marginal alluvial fans and axial fluvial systems into central shallow-perennial lakes coinciding with a climatic shift from warm/humid to arid conditions. The basal alluvial fan deposits abound in fossil macro-mammals of an early Turolian (MN11–12; late Tortonian) age. The Pliocene epoch in the region was punctuated by subhumid/humid conditions resulting in a rise of local base levels and expansion of lakes as evidenced by marsh-swamp deposits containing diverse fossilmammal assemblages indicating late Ruscinian (lateMN15; late Zanclean) age. A second pulse of extension, accompanied by regional climatic changes, prompted subsequent deepening of the lakes as manifested by thick and laterally extensive carbonate successions. These lakes, which prevailed c. 1 myr, later shrank due to renewed progradation of alluvial fans and eventually filled up and dried out, reflected by marsh-swamp deposits at the top of a complete lacustrine succession that contains diverse micro-mammal assemblages indicating a latest Villanyian (MN17; Gelasian) age. A third pulse of tectonic reorganisation and associated extension dissected the basins into their present-day configuration from the early Pleistocene onwards under warm/humid climatic conditions. The new age data provide means to correlate deposits across various basins in the region that help to place the basin development into a regional tectonic framework, which can be attributed to the consequence of the well-articulated regional phenomena of slab-tear/detachmentinduced uplift followed by crustal extension and basin formation (late Tortonian), the outward extension of the Aegean arc (early Pliocene) and eventually accompanied by westward extrusion of the Anatolian Plate (early Pleistocene).
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| 19. |
- Čolović, P., et al.
(författare)
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Population of lead isotopes in binary reactions using a Rb 94 radioactive beam
- 2020
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Ingår i: Physical Review C. - 2469-9985. ; 102:5
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Tidskriftsartikel (refereegranskat)abstract
- We measured absolute cross sections for neutron transfer channels populated in the Rb94+Pb208 binary reaction. Cross sections have been extracted identifying directly the lead isotopes with the high efficiency MINIBALL γ-ray array coupled to a particle detector combined with a radioactive Rb94 beam delivered at Elab=6.2 MeV/nucleon by the HIE-ISOLDE facility. We observed sizable cross sections in the neutron-rich mass region, where the heavy partner acquires neutrons. A fair agreement between the measured cross sections with those from GRAZING calculations gives confidence in the cross-section predictions of more neutron-rich nuclei produced via a larger number of transferred nucleons.
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| 20. |
- Cserni, G, et al.
(författare)
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Consistency in recognizing microinvasion in breast carcinomas is improved by immunohistochemistry for myoepithelial markers.
- 2016
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Ingår i: Virchows Archiv: an international journal of pathology. - : Springer Science and Business Media LLC. - 1432-2307. ; 468:4, s. 473-481
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Tidskriftsartikel (refereegranskat)abstract
- Microinvasion is the smallest morphologically identifiable stage of invasion. Its presence and distinction from in situ carcinoma may have therapeutic implications, and clinical staging also requires the recognition of this phenomenon. Microinvasion is established on the basis of several morphological criteria, which may be difficult and not perfectly reproducible among pathologists. The aim of this study was to assess the consistency of diagnosing microinvasion in the breast on traditional haematoxylin and eosin (HE) stained slides and to evaluate whether immunohistochemistry (IHC) for myoepithelial markers could improve this. Digital images were generated from representative areas of 50 cases stained with HE and IHC for myoepithelial markers. Cases were specifically selected from the spectrum of in situ to microinvasive cancers. Twenty-eight dedicated breast pathologists assessed these cases at different magnifications through a web-based platform in two rounds: first HE only and after a washout period by both HE and IHC. Consistency in the recognition of microinvasion significantly improved with the use of IHC. Concordance rates increased from 0.85 to 0.96, kappa from 0.5 to 0.85, the number of cases with 100 % agreement rose from 9/50 to 25/50 with IHC and the certainty of diagnosis also increased. The use of IHC markedly improves the consistency of identifying microinvasion. This corroborates previous recommendations to use IHC for myoepithelial markers to clarify cases where uncertainty exists about the presence of microinvasion. Microinvasive carcinoma is a rare entity, and seeking a second opinion may avoid overdiagnosis.
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| 21. |
- Guimond, S., et al.
(författare)
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Vanadium oxide surfaces and supported vanadium oxide nanoparticles
- 2006
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Ingår i: Topics in catalysis. - : Springer Science and Business Media LLC. - 1022-5528 .- 1572-9028. ; 38:1-3, s. 117-125
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Tidskriftsartikel (refereegranskat)abstract
- The information obtained from the characterization of vanadium oxide single crystal surfaces is related to the study of vanadia nanoparticles supported on silica and alumina thin films, model systems for the so-called “supported monolayer vanadia catalysts”. It is found that these particles have properties similar to V2O3 surfaces, where the topmost V ions are involved in vanadyl groups and have a 5+ oxidation state. A vibrational spectroscopy investigation combined with DFT calculations show that the accepted interpretation of vibrational spectra from vanadia catalysts must be revised.
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| 22. |
- Kern, R., et al.
(författare)
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Restoring the valence-shell stabilization in Nd 140
- 2020
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Ingår i: Physical Review C. - 2469-9985. ; 102:4
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Tidskriftsartikel (refereegranskat)abstract
- A projectile Coulomb-excitation experiment was performed at the radioactive-ion beam facility HIE-ISOLDE at CERN to obtain E2 and M1 transition matrix elements of Nd140 using the multistep Coulomb-excitation code gosia. The absolute M1 strengths, B(M1;22+→21+)=0.033(8)μN2,B(M1;23+→21+)=0.26-0.10+0.11μN2, and B(M1;24+→21+)<0.04μN2, identify the 23+ state as the main fragment of the one-quadrupole-phonon proton-neutron mixed-symmetry state of Nd140. The degree of F-spin mixing in Nd140 was quantified with the determination of the mixing matrix element VF-mix<7-7+13keV.
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| 23. |
- Kocyigit, I, et al.
(författare)
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Early arterial stiffness and inflammatory bio-markers in normotensive polycystic kidney disease patients
- 2012
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Ingår i: American journal of nephrology. - : S. Karger AG. - 1421-9670 .- 0250-8095. ; 36:1, s. 11-18
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Tidskriftsartikel (refereegranskat)abstract
- <b><i>Background/Aims:</i></b> Cardiovascular disease is the main cause of morbidity and mortality in autosomal-dominant polycystic kidney disease (ADPKD) patients. To clarify temporal relationship between ADPKD, hypertension and the loss of renal function, we examined these factors in patients with early-stage ADPKD who did not yet have hypertension. <b><i>Methods:</i></b> Fifty patients with ADPKD (42% males, 36.6 ± 9.9 years, no blood pressure medication) and 50 healthy controls (44% males, 35.4 ± 6.4 years) were studied cross-sectionally. Pulse wave velocity (PWV), cardiac morphology and function, aortic elastic indexes, estimated glomerular filtration rate (eGFR), 24-hour ambulatory blood pressure, interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α) and highly sensitive C-reactive protein (hs-CRP) were measured in all participants, using conventional methods. <b><i>Results:</i></b> Despite a normal blood pressure, aortic stiffness index and pulse wave velocity values were increased in patients compared to controls (6.8 ± 4.7 vs. 5.1 ± 3.3, p = 0.043 and 9.6 ± 1.3 vs. 5.8 ± 1.1 m/s, p < 0.001). In univariate analysis, IL-6, TNF-α, hs-CRP and eGFR were all significantly correlated with PWV. The independence of these correlations were analyzed in a regression model, and showed PWV to be significantly predicted by IL-6, TNF-α and hs-CRP. <b><i>Conclusion:</i></b> Increased arterial stiffness and pulse wave velocity are early manifestations of ADPKD appearing before hypertension or reduced eGFR. However, these vascular abnormalities are related to signs of systemic low grade inflammation, suggesting a common pathophysiological mechanism apparently present also in other vascular diseases but yet to be elucidated.
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| 24. |
- Lu, J. -L, et al.
(författare)
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Formation of one-dimensional crystalline silica on a metal substrate
- 2006
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Ingår i: Surface Science. - : Elsevier BV. - 0039-6028 .- 1879-2758. ; 600:13, s. L164-L168
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Tidskriftsartikel (refereegranskat)abstract
- We have observed formation of one-dimensional silica structures of 0.5 nm in width on Mo(112) single crystal surface. Combination of high-resolution scanning tunneling microscopy, photoelectron and infrared spectroscopy, and density functional theory provides strong evidence for formation of paired rows of corner sharing [SiO4] tetrahedra chemisorbed on a metal substrate.
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| 25. |
- Lu, J. -L, et al.
(författare)
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Low temperature CO induced growth of Pd supported on a monolayer silica film
- 2006
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Ingår i: Surface Science. - : Elsevier BV. - 0039-6028 .- 1879-2758. ; 600:12, s. L153-L157
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Tidskriftsartikel (refereegranskat)abstract
- Nucleation, growth and sintering of Pd deposited on an ultra-thin silica film were studied by scanning tunneling microscopy and infrared reflection absorption spectroscopy. No preferential nucleation of Pd on the silica surface was observed both at 90 and 300 K deposition. When adsorbed on Pd clusters formed at 90 K, CO causes a strong sintering effect even at this temperature. The results are rationalized on the basis of a high mobility of Pd carbonyl-like species on the silica film. At a given Pd coverage, the extent of CO induced sintering cannot be achieved by annealing in vacuum. In addition, vacuum sintering, which commences above 700 K, goes simultaneously with interdiffusion of Pd and support.
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