| 51. |
- Acosta-Herrera, M, et al.
(author)
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Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases
- 2019
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In: Annals of the rheumatic diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 78:3, s. 311-319
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Journal article (peer-reviewed)abstract
- Immune-mediated inflammatory diseases (IMIDs) are heterogeneous and complex conditions with overlapping clinical symptoms and elevated familial aggregation, which suggests the existence of a shared genetic component. In order to identify this genetic background in a systematic fashion, we performed the first cross-disease genome-wide meta-analysis in systemic seropositive rheumatic diseases, namely, systemic sclerosis, systemic lupus erythematosus, rheumatoid arthritis and idiopathic inflammatory myopathies.MethodsWe meta-analysed ~6.5 million single nucleotide polymorphisms in 11 678 cases and 19 704 non-affected controls of European descent populations. The functional roles of the associated variants were interrogated using publicly available databases.ResultsOur analysis revealed five shared genome-wide significant independent loci that had not been previously associated with these diseases: NAB1, KPNA4-ARL14, DGQK, LIMK1 and PRR12. All of these loci are related with immune processes such as interferon and epidermal growth factor signalling, response to methotrexate, cytoskeleton dynamics and coagulation cascade. Remarkably, several of the associated loci are known key players in autoimmunity, which supports the validity of our results. All the associated variants showed significant functional enrichment in DNase hypersensitivity sites, chromatin states and histone marks in relevant immune cells, including shared expression quantitative trait loci. Additionally, our results were significantly enriched in drugs that are being tested for the treatment of the diseases under study.ConclusionsWe have identified shared new risk loci with functional value across diseases and pinpoint new potential candidate loci that could be further investigated. Our results highlight the potential of drug repositioning among related systemic seropositive rheumatic IMIDs.
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| 52. |
- Butler, P. A., et al.
(author)
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Evolution of Octupole Deformation in Radium Nuclei from Coulomb Excitation of Radioactive ^{222}Ra and ^{228}Ra Beams
- 2020
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In: Physical Review Letters. - 1079-7114. ; 124:4
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Journal article (peer-reviewed)abstract
- There is sparse direct experimental evidence that atomic nuclei can exhibit stable "pear" shapes arising from strong octupole correlations. In order to investigate the nature of octupole collectivity in radium isotopes, electric octupole (E3) matrix elements have been determined for transitions in ^{222,228}Ra nuclei using the method of sub-barrier, multistep Coulomb excitation. Beams of the radioactive radium isotopes were provided by the HIE-ISOLDE facility at CERN. The observed pattern of E3 matrix elements for different nuclear transitions is explained by describing ^{222}Ra as pear shaped with stable octupole deformation, while ^{228}Ra behaves like an octupole vibrator.
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| 53. |
- Cloutier, B. Tessier, et al.
(author)
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Breast Cancer in Systemic Lupus Erythematosus
- 2013
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In: Oncology. - : S. Karger AG. - 1423-0232 .- 0030-2414. ; 85:2, s. 117-121
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Journal article (peer-reviewed)abstract
- Objective: Evidence points to a decreased breast cancer risk in systemic lupus erythematosus (SLE). We analyzed data from a large multisite SLE cohort, linked to cancer registries. Methods: Information on age, SLE duration, cancer date, and histology was available. We analyzed information on histological type and performed multivariate logistic regression analyses of histological types according to age, SLE duration, and calendar year. Results: We studied 180 breast cancers in the SLE cohort. Of the 155 cases with histology information, 11 were referred to simply as 'carcinoma not otherwise specified'. In the remaining 144 breast cancers, the most common histological type was ductal carcinoma (n = 95; 66%) followed by lobular adenocarcinoma (n = 11; 8%), 15 cancers were of mixed histology, and the remaining ones were special types. In our regression analyses, the independent risk factors for lobular versus ductal carcinoma was age [odds ratio (OR) 1.07, 95% confidence interval (Cl) 1.01-1.14] and for the 'special' subtypes it was age (OR 1.06, 95% Cl 1.01-1.10) and SLE duration (OR 1.05, 95% CI 1.00-1.11). Conclusions: Generally, up to 80% of breast cancers are ductal carcinomas. Though our results are not definitive, in the breast cancers that occur in SLE, there may be a slight decrease in the ductal histological type. In our analyses, age and SLE duration were independent predictors of histological status. Copyright (C) 2013 S. Karger AG, Basel
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| 54. |
- Das, P., et al.
(author)
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Study of exotic decay of Cs isotope close to the proton drip line
- 2020
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In: 27th International Nuclear Physics Conference (INPC2019) 29 July - 2 August 2019, Glasgow, UK. - : IOP Publishing. - 1742-6588. ; 1643
-
Conference paper (peer-reviewed)abstract
- The neutron-deficient 115Cs was produced at ISOLDE, CERN by spallation reaction using 1.4 GeV proton on LaC2 target. The exotic decay modes were studied by using a charged particle array (DSSD and pad detectors) and a γ-detector array (four Clovers) at the ISOLDE decay station (IDS). In this report, results on observed β-delayed particle emission from 115Cs, a nucleus close to proton drip line, is presented. By measuring the time distribution in the delayed proton spectrum, the half-life of the ground state of 115Cs was extracted. The obtained half-life is in agreement with previous reported value. For the first time, the p-unbound states of 115Xe, obtained by measuring beta-delayed protons from 115Cs is reported.
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| 55. |
- Henrich, C., et al.
(author)
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Coulomb excitation of 142Xe
- 2018
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In: Acta Physica Polonica B. - 0587-4254. ; 49:3, s. 529-533
-
Journal article (peer-reviewed)abstract
- The even-even nucleus 142Xe lies north-east of the doubly magic 132Sn on the neutron-rich side of the nuclear chart. In order to gain further information on the octupole collectivity and the evolution of quadrupole collectivity in this region, a "safe" Coulomb excitation experiment was carried out at the new HIE-ISOLDE facility (CERN) at the end of 2016. As the gamma-ray detector the Miniball spectrometer was used. Beam and target nuclei were detected using C-REX, i.e. an array of segmented Si detectors, covering forward as well as backward angles in the laboratory frame.
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| 56. |
- Kern, R., et al.
(author)
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Restoring the valence-shell stabilization in Nd 140
- 2020
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In: Physical Review C. - 2469-9985. ; 102:4
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Journal article (peer-reviewed)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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| 57. |
- Kesteloot, N., et al.
(author)
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Deformation and mixing of coexisting shapes in neutron-deficient polonium isotopes
- 2015
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In: Physical Review C (Nuclear Physics). - 0556-2813. ; 92:5
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Journal article (peer-reviewed)abstract
- Coulomb-excitation experiments are performed with postaccelerated beams of neutron-deficient Po-196,Po-198,Po-200,Po-202 isotopes at the REX-ISOLDE facility. A set of matrix elements, coupling the low-lying states in these isotopes, is extracted. In the two heaviest isotopes, Po-196,Po-198, the transitional and diagonal matrix elements of the 2(1)(+) state are determined. In Po-196,Po-198 multistep Coulomb excitation is observed, populating the 4(1)(+), 0(2)(+), and 2(2)(+) states. The experimental results are compared to the results from the measurement of mean-square charge radii in polonium isotopes, confirming the onset of deformation from Po-196 onwards. Three model descriptions are used to compare to the data. Calculations with the beyond-mean-field model, the interacting boson model, and the general Bohr Hamiltonian model show partial agreement with the experimental data. Finally, calculations with a phenomenological two-level mixing model hint at the mixing of a spherical structure with a weakly deformed rotational structure.
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| 58. |
- Liu, Ke, et al.
(author)
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X Chromosome Dose and Sex Bias in Autoimmune Diseases
- 2016
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In: Arthritis & Rheumatology. - : WILEY-BLACKWELL. - 2326-5191 .- 2326-5205. ; 68:5, s. 1290-1300
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Journal article (peer-reviewed)abstract
- Objective. More than 80% of autoimmune disease predominantly affects females, but the mechanism for this female bias is poorly understood. We suspected that an X chromosome dose effect accounts for this, and we undertook this study to test our hypothesis that trisomy X (47, XXX; occurring in similar to 1 in 1,000 live female births) would be increased in patients with female-predominant diseases (systemic lupus erythematosus [SLE], primary Sjogrens syndrome [SS], primary biliary cirrhosis, and rheumatoid arthritis [RA]) compared to patients with diseases without female predominance (sarcoidosis) and compared to controls. Methods. All subjects in this study were female. We identified subjects with 47, XXX using aggregate data from single-nucleotide polymorphism arrays, and, when possible, we confirmed the presence of 47, XXX using fluorescence in situ hybridization or quantitative polymerase chain reaction. Results. We found 47, XXX in 7 of 2,826 SLE patients and in 3 of 1,033 SS patients, but in only 2 of 7,074 controls (odds ratio in the SLE and primary SS groups 8.78 [95% confidence interval 1.67-86.79], P = 0.003 and odds ratio 10.29 [95% confidence interval 1.18-123.47], P = 0.02, respectively). One in 404 women with SLE and 1 in 344 women with SS had 47, XXX. There was an excess of 47, XXX among SLE and SS patients. Conclusion. The estimated prevalence of SLE and SS in women with 47, XXX was similar to 2.5 and similar to 2.9 times higher, respectively, than that in women with 46, XX and similar to 25 and similar to 41 times higher, respectively, than that in men with 46, XY. No statistically significant increase of 47, XXX was observed in other female-biased diseases (primary biliary cirrhosis or RA), supporting the idea of multiple pathways to sex bias in autoimmunity.
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| 59. |
- Liu, Ke, et al.
(author)
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X Chromosome Dose and Sex Bias in Autoimmune Diseases : Increased 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome
- 2016
-
In: Arthritis & Rheumatology. - : Wiley. - 2326-5191 .- 2326-5205. ; 68:5, s. 1290-1300
-
Journal article (peer-reviewed)abstract
- OBJECTIVE:More than 80% of autoimmune disease is female dominant, but the mechanism for this female bias is poorly understood. We suspected an X chromosome dose effect and hypothesized that trisomy X (47,XXX, 1 in ∼1,000 live female births) would be increased in female predominant diseases (e.g. systemic lupus erythematosus [SLE], primary Sjögren's syndrome [SS], primary biliary cirrhosis [PBC] and rheumatoid arthritis [RA]) compared to diseases without female predominance (sarcoidosis) and controls.METHODS:We identified 47,XXX subjects using aggregate data from single nucleotide polymorphism (SNP) arrays and confirmed, when possible, by fluorescent in situ hybridization (FISH) or quantitative polymerase chain reaction (q-PCR).RESULTS:We found 47,XXX in seven of 2,826 SLE and three of 1,033 SS female patients, but only in two of the 7,074 female controls (p=0.003, OR=8.78, 95% CI: 1.67-86.79 and p=0.02, OR=10.29, 95% CI: 1.18-123.47; respectively). One 47,XXX subject was present for ∼404 SLE women and ∼344 SS women. 47,XXX was present in excess among SLE and SS subjects.CONCLUSION:The estimated prevalence of SLE and SS in women with 47,XXX was respectively ∼2.5 and ∼2.9 times higher than in 46,XX women and ∼25 and ∼41 times higher than in 46,XY men. No statistically significant increase of 47,XXX was observed in other female-biased diseases (PBC or RA), supporting the idea of multiple pathways to sex bias in autoimmunity. This article is protected by copyright. All rights reserved.
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| 60. |
- Morrison, L., et al.
(author)
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Quadrupole and octupole collectivity in the semi-magic nucleus 20680Hg126
- 2023
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In: Physics Letters B. - : Elsevier BV. - 0370-2693. ; 838
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Journal article (peer-reviewed)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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