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- Bécoulet, A., et al.
(författare)
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Science and technology research and development in support to ITER and the Broader Approach at CEA
- 2013
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Ingår i: Nuclear Fusion. - : IOP Publishing. - 1741-4326 .- 0029-5515. ; 53:10
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Tidskriftsartikel (refereegranskat)abstract
- In parallel to the direct contribution to the procurement phase of ITER and Broader Approach, CEA has initiated research & development programmes, accompanied by experiments together with a significant modelling effort, aimed at ensuring robust operation, plasma performance, as well as mitigating the risks of the procurement phase. This overview reports the latest progress in both fusion science and technology including many areas, namely the mitigation of superconducting magnet quenches, disruption-generated runaway electrons, edge-localized modes (ELMs), the development of imaging surveillance, and heating and current drive systems for steady-state operation. The WEST (W Environment for Steady-state Tokamaks) project, turning Tore Supra into an actively cooled W-divertor platform open to the ITER partners and industries, is presented.
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| 2. |
- Jardin, Fabrice, et al.
(författare)
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Recurrent mutations of the exportin 1 gene (XPO1) and their impact on selective inhibitor of nuclear export compounds sensitivity in primary mediastinal B-cell lymphoma.
- 2016
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Ingår i: American Journal of Hematology. - : Wiley. - 0361-8609 .- 1096-8652. ; 91:9, s. 923-30
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Tidskriftsartikel (refereegranskat)abstract
- Primary mediastinal B-cell lymphoma (PMBL) is an entity of B-cell lymphoma distinct from the other molecular subtypes of diffuse large B-cell lymphoma (DLBCL). We investigated the prevalence, specificity, and clinical relevance of mutations of XPO1, which encodes a member of the karyopherin-β nuclear transporters, in a large cohort of PMBL. PMBL cases defined histologically or by gene expression profiling (GEP) were sequenced and the XPO1 mutational status was correlated to genetic and clinical characteristics. The XPO1 mutational status was also assessed in DLBCL, Hodgkin lymphoma (HL) and mediastinal gray-zone lymphoma (MGZL).The biological impact of the mutation on Selective Inhibitor of Nuclear Export (SINE) compounds (KPT-185/330) sensitivity was investigated in vitro. XPO1 mutations were present in 28/117 (24%) PMBL cases and in 5/19 (26%) HL cases but absent/rare in MGZL (0/20) or DLBCL (3/197). A higher prevalence (50%) of the recurrent codon 571 variant (p.E571K) was observed in GEP-defined PMBL and was associated with shorter PFS. Age, International Prognostic Index and bulky mass were similar in XPO1 mutant and wild-type cases. KPT-185 induced a dose-dependent decrease in cell proliferation and increased cell-death in PMBL cell lines harboring wild type or XPO1 E571K mutant alleles. Experiments in transfected U2OS cells further confirmed that the XPO1 E571K mutation does not have a drastic impact on KPT-330 binding. To conclude the XPO1 E571K mutation represents a genetic hallmark of the PMBL subtype and serves as a new relevant PMBL biomarker. SINE compounds appear active for both mutated and wild-type protein. Am. J. Hematol. 91:923-930, 2016. © 2016 Wiley Periodicals, Inc.
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| 3. |
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| 4. |
- Ryczer-Dumas, Malgorzata, 1990-
(författare)
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Users' agencies : juxtaposing public portrayals and users' accounts of app-mediated cardiac arrest volunteer work in Sweden
- 2022
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- This thesis embraces a social science research perspective to examine uses of the app SMSlivräddare (eng. SMSlifesaving), now Heartrunner, dedicated to alert volunteers nearby to assist people suspected to suffer from a cardiac arrest outside hospital. This case study of the uses of the health and medical app juxtaposes the public portrayals of the app, its prospective users, their agencies and use practices with the volunteer users’ own accounts. The analysis explores dimensions of the app’s and its users’ agencies as delegated by the technology’s portrayals and perceived by its users. It renders visible also possibly obscured aspects of the volunteer users’ agencies and practices at the time of the technology’s implementation in the two first regions, before its subsequent adoption in other Swedish regions and in Denmark. A medical research perspective has so far dominated the studies of lifesaving apps. Such research evaluates the patients’ health outcomes resulting from the app use by the volunteers and concentrates on the examination of the efficiency aspects of the app, such as how many users arrived and how many engaged in resuscitating the patients. At the same time, it contributes to the promissory discourses and instrumental approaches applied to understand the meanings and uses of health and medical apps. In contrast, building on the discourse and thematic analysis of the qualitative research material, this thesis seeks to highlight the users’ perspectives in their co-constructing of the SMSlifesaving technology through their app use practices; it embraces a socio-material theoretical approach and critically explores the users’ agencies as delegated by the discourses of the project developers, managers and evaluators of the medical technology and as negotiated by the users in their daily practices. This thesis, first, investigates the public portrayals of the app, its users and their agencies published online, in the user-recruiting practices, and in a medical research publication evaluating the SMSlifesaving technology. Next, it examines how the volunteers’ accounts describe the rationales of their entry into their SMSlifesaving app use practices, the social context embedding their entry and the meanings which they ascribe to their practices. Third, the study investigates how the volunteers’ accounts in juxtaposition to the online portrayals of the SMSlifesaving technology represent the volunteers’ app use before their receptions of the app’s notifications which inform them about cardiac-arrest cases nearby, at the time of reception of such notifications, and following acceptance of such notifications.Contributing to the field of critical social research on health and medical apps, the thesis identifies that both the SMSlifesaving app users and the technologies they co-construct have agencies. It illustrates the users’ agencies delegated and negotiated; the latter when they overcome the app everyday dependencies and judge the app-mediated volunteer work importance versus their paid work and private life commitments, develop dutiful engagement with the app and re-define the app’s medical promises for the patients and their families
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| 5. |
- Sawcer, Stephen, et al.
(författare)
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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
- 2011
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 476:7359, s. 214-219
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Tidskriftsartikel (refereegranskat)abstract
- Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis.
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