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- 2019
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Tidskriftsartikel (refereegranskat)
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| 2. |
- Mercuri, E., et al.
(författare)
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Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study
- 2020
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Ingår i: Journal of Comparative Effectiveness Research. - : Becaris Publishing Limited. - 2042-6305 .- 2042-6313. ; 9:5, s. 341-360
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Tidskriftsartikel (refereegranskat)abstract
- Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). We examined the effectiveness of ataluren + standard of care (SoC) in the registry versus SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS), DMD genotype-phenotype/-ataluren benefit correlations and ataluren safety. Patients & methods: Propensity score matching was performed to identify STRIDE and CINRG DNHS patients who were comparable in established disease progression predictors (registry cut-off date, 9 July 2018). Results & conclusion: Kaplan-Meier analyses demonstrated that ataluren + SoC significantly delayed age at loss of ambulation and age at worsening performance in timed function tests versus SoC alone (p <= 0.05). There were no DMD genotype-phenotype/ataluren benefit correlations. Ataluren was well tolerated. These results indicate that ataluren + SoC delays functional milestones of DMD progression in patients with nmDMD in routine clinical practice. ClinicalTrials.gov identifier: NCT02369731. ClinicalTrials.gov identifier: NCT02369731.
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| 3. |
- Baldassarri, M, et al.
(författare)
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Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes
- 2022
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Ingår i: Cells. - : MDPI AG. - 2073-4409. ; 11:24
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Tidskriftsartikel (refereegranskat)abstract
- Carriers of single pathogenic variants of the CFTR (cystic fibrosis transmembrane conductance regulator) gene have a higher risk of severe COVID-19 and 14-day death. The machine learning post-Mendelian model pinpointed CFTR as a bidirectional modulator of COVID-19 outcomes. Here, we demonstrate that the rare complex allele [G576V;R668C] is associated with a milder disease via a gain-of-function mechanism. Conversely, CFTR ultra-rare alleles with reduced function are associated with disease severity either alone (dominant disorder) or with another hypomorphic allele in the second chromosome (recessive disorder) with a global residual CFTR activity between 50 to 91%. Furthermore, we characterized novel CFTR complex alleles, including [A238V;F508del], [R74W;D1270N;V201M], [I1027T;F508del], [I506V;D1168G], and simple alleles, including R347C, F1052V, Y625N, I328V, K68E, A309D, A252T, G542*, V562I, R1066H, I506V, I807M, which lead to a reduced CFTR function and thus, to more severe COVID-19. In conclusion, CFTR genetic analysis is an important tool in identifying patients at risk of severe COVID-19.
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| 4. |
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| 5. |
- Adile, E., et al.
(författare)
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Cladding of components in UNS N08810 alloy exposed to molten lead by GMAW and SAW processes, adopting an innovative Fe-Cr-Al based consumable, in the green power sector
- 2021
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Ingår i: Rivista Italiana della Saldatura. - : Instituto Italiano della Saldatura. - 0035-6794. ; 73:1, s. 27-47
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Tidskriftsartikel (refereegranskat)abstract
- This study reports the results obtained from the welding tests carried out within the European project H2020 "NEXTOWER", which aims to create a demonstration plant with concentrated energy (CSP) and high efficiency solar tower, based on the use of liquid lead as an energy storage element. In particular, the study focuses on the development phases of the robotic GMAW and strip cladding SAW welding procedures, to create defect-free coatings on Incoloy® 800H components adopting an innovative Fe-Cr-Al-based consumable, specially developed by Sandvik Kanthal. The paper illustrates the operational and metallurgical aspects associated with the use of the Fe-Cr-Al consumable, evaluating the effect of the different process parameters, as well as any heat treatments, on the mechanical and microstructural properties of the joints. The laboratory test results were compared with the qualification paths required by ASME and EN reference standards.
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