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- Thompson, B.A., et al.
(författare)
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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- 2014
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46:2, s. 107-115
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Tidskriftsartikel (refereegranskat)abstract
- The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2, MSH6 and PMS2. Unpublished data submission was encouraged to assist in variant classification and was recognized through microattribution. The scheme was refined by multidisciplinary expert committee review of the clinical and functional data available for variants, applied to 2,360 sequence alterations, and disseminated online. Assessment using validated criteria altered classifications for 66% of 12,006 database entries. Clinical recommendations based on transparent evaluation are now possible for 1,370 variants that were not obviously protein truncating from nomenclature. This large-scale endeavor will facilitate the consistent management of families suspected to have Lynch syndrome and demonstrates the value of multidisciplinary collaboration in the curation and classification of variants in public locus-specific databases. © 2014 Nature America, Inc.
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| 2. |
- Bousquet, Jean, et al.
(författare)
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Allergic Rhinitis and its Impact on Asthma (ARIA) Phase 4 (2018) : Change management in allergic rhinitis and asthma multimorbidity using mobile technology
- 2019
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Ingår i: Journal of Allergy and Clinical Immunology. - : Elsevier. - 0091-6749 .- 1097-6825. ; 143:3, s. 864-879
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Tidskriftsartikel (refereegranskat)abstract
- Allergic Rhinitis and its Impact on Asthma (ARIA) has evolved from a guideline by using the best approach to integrated care pathways using mobile technology in patients with allergic rhinitis (AR) and asthma multimorbidity. The proposed next phase of ARIA is change management, with the aim of providing an active and healthy life to patients with rhinitis and to those with asthma multimorbidity across the lifecycle irrespective of their sex or socioeconomic status to reduce health and social inequities incurred by the disease. ARIA has followed the 8-step model of Kotter to assess and implement the effect of rhinitis on asthma multimorbidity and to propose multimorbid guidelines. A second change management strategy is proposed by ARIA Phase 4 to increase self-medication and shared decision making in rhinitis and asthma multimorbidity. An innovation of ARIA has been the development and validation of information technology evidence-based tools (Mobile Airways Sentinel Network [MASK]) that can inform patient decisions on the basis of a self-care plan proposed by the health care professional.
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| 3. |
- Day, James M. D., et al.
(författare)
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Mantle source characteristics and magmatic processes during the 2021 La Palma eruption
- 2022
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Ingår i: Earth and Planetary Science Letters. - : Elsevier. - 0012-821X .- 1385-013X. ; 597
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Tidskriftsartikel (refereegranskat)abstract
- The 2021 eruption of La Palma (September 19-December 13) was the first subaerial eruption in the Canary Islands in 50 years. Approximately 0.2 km3 of lava erupted from a newly formed, broadly basaltic composite volcanic edifice on the northwestern flank of the Cumbre Vieja volcanic ridge. Comprehensive sampling of the olivine-and clinopyroxene-phyric lavas over the eruption period reveals temporal changes in mineralogy and bulk rock geochemistry from tephrite to basanite. Initial tephrite lavas have low MgO (-6 wt.%) and elevated TiO2 (-4 wt.%) and contain amphibole crystals and gabbroic micro -xenoliths. In contrast, lavas with progressively more mafic compositions erupted to approximately day 20 of the eruption and thereafter remained as basanite (-8 wt.% MgO; 3.7 wt.% TiO2) until eruption termination. Temporal changes in lava chemistry reflect initial eruption of fractionated magmas that crystallized 5-10% olivine and clinopyroxene, as well as minor spinel, sulfide, and magnetite, followed by later eruption of deeper-sourced and more primitive magma. Vanadium-in-olivine oxybarometry indicates parental magmas were oxidized (fO2 = +1.5 to +2 FMQ) with 8.2 +/- 0.8 wt.% MgO and were generated from between 2.5-3% partial melting of a mantle source potentially containing a pyroxenite component (Xpx = 0.31 +/- 0.12). Day 1-20 tephrites have more radiogenic 187Os/188Os (0.143-0.148) and lower Pd, Pt, Ir and Os contents than post day 20 basanites (187Os/188Os = 0.141-0.145). Combined with available seismic data, the lavas provide a high-resolution record of eruptive evolution. Initial fractionated tephrite magma was stored in the upper lithosphere up to four years prior to eruption, consistent with pre-cursor seismicity and the presence of partially reacted amphibole and micro-xenoliths. The later lavas of the eruption were fed by more primitive basanitic parental magmas that were likely sourced from the deeper portion of the magma storage system that is underplating the island. Precursor events to the 2021 La Palma eruption involved seismicity and magma emplacement, storage and differentiation, which was followed by mobilisation, eruption, and eventual exhaustion of stored magma and partial melts. This magmatic progression is similar to that documented from the 1949 and 1971 Cumbre Vieja eruptions. Ocean islands with limited basaltic magma supply show similarities to the magmatic evolution observed in large silicic systems, where initial magma emplacement and differentiation is followed by later magma remobilisation that induces volcanic activity.
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| 4. |
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| 5. |
- Menditto, Enrica, et al.
(författare)
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Adherence to treatment in allergic rhinitis using mobile technology : The MASK Study
- 2019
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Ingår i: Clinical and Experimental Allergy. - : WILEY. - 0954-7894 .- 1365-2222. ; 49:4, s. 442-460
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Tidskriftsartikel (refereegranskat)abstract
- Background: Mobile technology may help to better understand the adherence to treatment. MASK-rhinitis (Mobile Airways Sentinel NetworK for allergic rhinitis) is a patient-centred ICT system. A mobile phone app (the Allergy Diary) central to MASK is available in 22 countries. Objectives: To assess the adherence to treatment in allergic rhinitis patients using the Allergy Diary App. Methods: An observational cross-sectional study was carried out on all users who filled in the Allergy Diary from 1 January 2016 to 1 August 2017. Secondary adherence was assessed by using the modified Medication Possession Ratio (MPR) and the Proportion of days covered (PDC) approach. Results: A total of 12143 users were registered. A total of 6949 users reported at least one VAS data recording. Among them, 1887 users reported >= 7 VAS data. About 1195 subjects were included in the analysis of adherence. One hundred and thirty-six (11.28%) users were adherent (MPR >= 70% and PDC <= 1.25), 51 (4.23%) were partly adherent (MPR >= 70% and PDC = 1.50) and 176 (14.60%) were switchers. On the other hand, 832 (69.05%) users were non-adherent to medications (MPR <70%). Of those, the largest group was non-adherent to medications and the time interval was increased in 442 (36.68%) users. Conclusion and clinical relevance: Adherence to treatment is low. The relative efficacy of continuous vs on-demand treatment for allergic rhinitis symptoms is still a matter of debate. This study shows an approach for measuring retrospective adherence based on a mobile app. This also represents a novel approach for analysing medication-taking behaviour in a real-world setting.
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