| 1. |
- Niemi, MEK, et al.
(author)
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- 2021
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swepub:Mat__t
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| 2. |
- Wiessner, M., et al.
(author)
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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
- 2021
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In: Brain : a journal of neurology. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 144:5, s. 1422-1434
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Journal article (peer-reviewed)abstract
- Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes complicated by episodes of neurological and respiratory decompensation. Variants included bona fide pathogenic truncating changes, although most were missense substitutions. Functionality of variants could not be determined directly as the enzymatic specificity of HPDL is unknown; however, when HPDL missense substitutions were introduced into 4-hydroxyphenylpyruvate dioxygenase (HPPD, an HPDL orthologue), they impaired the ability of HPPD to convert 4-hydroxyphenylpyruvate into homogentisate. Moreover, three additional sets of experiments provided evidence for a role of HPDL in the nervous system and further supported its link to neurological disease: (i) HPDL was expressed in the nervous system and expression increased during neural differentiation; (ii) knockdown of zebrafish hpdl led to abnormal motor behaviour, replicating aspects of the human disease; and (iii) HPDL localized to mitochondria, consistent with mitochondrial disease that is often associated with neurological manifestations. Our findings suggest that biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays. © 2021 The Author(s).
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| 3. |
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| 4. |
- Frischknecht, R., et al.
(author)
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Comparison of the greenhouse gas emissions of a high-rise residential building assessed with different national LCA approaches - IEA EBC Annex 72
- 2020
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In: IOP Conference Series. - : IOP Publishing. ; , s. 022029-
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Conference paper (peer-reviewed)abstract
- Introduction: The international research project IEA EBC Annex 72 investigates the life cycle related environmental impacts caused by buildings. The project aims inter alia to harmonise LCA approaches on buildings. Methods: To identify major commonalities and discrepancies among national LCA approaches, reference buildings were defined to present and compare the national approaches. A residential high-rise building located in Tianjin, China, was selected as one of the reference buildings. The main construction elements are reinforced concrete shear walls, beams and floor slabs. The building has an energy reference area of 4566 m2 and an operational heating energy demand of 250 MJ/m2a. An expert team provided information on the quantities of building materials and elements required for the construction, established a BIM model and quantified the operational energy demand. Results: The greenhouse gas emissions and environmental impacts of the building were quantified using 17 country-specific national assessment methods and LCA databases. Comparisons of the results are shown on the level of building elements as well as the complete life cycle of the building. Conclusions: The results of these assessments show that the main differences lie in the LCA background data used, the scope of the assessment and the reference study period applied. Despite the variability in the greenhouse gas emissions determined with the 17 national methods, the individual results are relevant in the respective national context of the method, data, tool and benchmark used. It is important that environmental benchmarks correspond to the particular LCA approach and database of a country in which the benchmark is applied. Furthermore, the results imply to include building technologies as their contribution to the overall environmental impacts is not negligible. Grant support: The authors thank the IEA for its organizational support and the funding organizations in the participating countries for their financial support.
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| 5. |
- Izadi, Zara, et al.
(author)
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Environmental and societal factors associated with COVID-19-related death in people with rheumatic disease : an observational study
- 2022
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In: The Lancet Rheumatology. - : Elsevier. - 2665-9913. ; 4:9, s. e603-e613
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Journal article (peer-reviewed)abstract
- Background: Differences in the distribution of individual-level clinical risk factors across regions do not fully explain the observed global disparities in COVID-19 outcomes. We aimed to investigate the associations between environmental and societal factors and country-level variations in mortality attributed to COVID-19 among people with rheumatic disease globally.Methods: In this observational study, we derived individual-level data on adults (aged 18–99 years) with rheumatic disease and a confirmed status of their highest COVID-19 severity level from the COVID-19 Global Rheumatology Alliance (GRA) registry, collected between March 12, 2020, and Aug 27, 2021. Environmental and societal factors were obtained from publicly available sources. The primary endpoint was mortality attributed to COVID-19. We used a multivariable logistic regression to evaluate independent associations between environmental and societal factors and death, after controlling for individual-level risk factors. We used a series of nested mixed-effects models to establish whether environmental and societal factors sufficiently explained country-level variations in death.Findings: 14 044 patients from 23 countries were included in the analyses. 10 178 (72·5%) individuals were female and 3866 (27·5%) were male, with a mean age of 54·4 years (SD 15·6). Air pollution (odds ratio 1·10 per 10 μg/m3 [95% CI 1·01–1·17]; p=0·0105), proportion of the population aged 65 years or older (1·19 per 1% increase [1·10–1·30]; p<0·0001), and population mobility (1·03 per 1% increase in number of visits to grocery and pharmacy stores [1·02–1·05]; p<0·0001 and 1·02 per 1% increase in number of visits to workplaces [1·00–1·03]; p=0·032) were independently associated with higher odds of mortality. Number of hospital beds (0·94 per 1-unit increase per 1000 people [0·88–1·00]; p=0·046), human development index (0·65 per 0·1-unit increase [0·44–0·96]; p=0·032), government response stringency (0·83 per 10-unit increase in containment index [0·74–0·93]; p=0·0018), as well as follow-up time (0·78 per month [0·69–0·88]; p<0·0001) were independently associated with lower odds of mortality. These factors sufficiently explained country-level variations in death attributable to COVID-19 (intraclass correlation coefficient 1·2% [0·1–9·5]; p=0·14).Interpretation: Our findings highlight the importance of environmental and societal factors as potential explanations of the observed regional disparities in COVID-19 outcomes among people with rheumatic disease and lay foundation for a new research agenda to address these disparities.
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| 6. |
- Sattui, Sebastian E., et al.
(author)
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Outcomes of COVID-19 in patients with primary systemic vasculitis or polymyalgia rheumatica from the COVID-19 Global Rheumatology Alliance physician registry : a retrospective cohort study
- 2021
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In: The Lancet Rheumatology. - : Elsevier. - 2665-9913. ; 3:12, s. E855-E864
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Journal article (peer-reviewed)abstract
- Background Patients with primary systemic vasculitis or polymyalgia rheumatica might be at a high risk for poor COVID-19 outcomes due to the treatments used, the potential organ damage cause by primary systemic vasculitis, and the demographic factors associated with these conditions. We therefore aimed to investigate factors associated with COVID-19 outcomes in patients with primary systemic vasculitis or polymyalgia rheumatica. Methods In this retrospective cohort study, adult patients (aged >= 18 years) diagnosed with COVID-19 between March 12, 2020, and April 12, 2021, who had a history of primary systemic vasculitis (antineutrophil cytoplasmic antibody [ANCA]-associated vasculitis, giant cell arteritis, Behcet's syndrome, or other vasculitis) or polymyalgia rheumatica, and were reported to the COVID-19 Global Rheumatology Alliance registry were included. To assess COVID-19 outcomes in patients, we used an ordinal COVID-19 severity scale, defined as: (1) no hospitalisation; (2) hospitalisation without supplemental oxygen; (3) hospitalisation with any supplemental oxygen or ventilation; or (4) death. Multivariable ordinal logistic regression analyses were used to estimate odds ratios (ORs), adjusting for age, sex, time period, number of comorbidities, smoking status, obesity, glucocorticoid use, disease activity, region, and medication category. Analyses were also stratified by type of rheumatic disease. Findings Of 1202 eligible patients identified in the registry, 733 (61.0%) were women arid 469 (39.0%) were men, and their mean age was 63.8 years (SD 17.1). A total of 374 (31.1%) patients had polymyalgia rheumatica, 353 (29.4%) had ANCA-associated vasculitis, 183 (15.2%) had giant cell arteritis, 112 (9.3%) had Behcet's syndrome, and 180 (15.0%) had other vasculitis. Of 1020 (84. 9%) patients with outcome data, 512 (S0.2%) were not hospitalised, 114 (11.2%) were hospitalised and did not receive supplemental oxygen, 239 (23 - 4%) were hospitalised and received ventilation or supplemental oxygen, and 155 (15.2%) died. A higher odds of poor COVID-19 outcomes were observed in patients who were older (per each additional decade of life OR 1.44 [95% CI 1. 31-1- 571), were male compared with female (1.38 [1.05-1.801), had more comorbidities (per each additional comorbidity 1.39 [1- 23-1- 581), were taking 10 mg/day or more of prednisolone compared with none (2.14 [1.50-3.04J), or had moderate, or high or severe disease activity compared with those who had disease remission or low disease activity (2.12 [1.49-3.021). Risk factors varied among different disease subtypes. Interpretation Among patients with primary systemic vasculitis and polymyalgia rheumatica, severe COVID-19 outcomes were associated with variable and largely unmodifiable risk factors, such as age, sex, and number of comorbidities, as well as treatments, including high-dose glucocorticoids. Our results could be used to info rm mitigation strategies for patients with these diseases.
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| 7. |
- De Marco, O., et al.
(author)
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The messy death of a multiple star system and the resulting planetary nebula as observed by JWST
- 2022
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In: Nature Astronomy. - : Springer Science and Business Media LLC. - 2397-3366. ; 6:12, s. 1421-1432
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Journal article (peer-reviewed)abstract
- Planetary nebulae—the ejected envelopes of red giant stars—provide us with a history of the last, mass-losing phases of 90% of stars initially more massive than the Sun. Here we analyse images of the planetary nebula NGC 3132 from the James Webb Space Telescope (JWST) Early Release Observations. A structured, extended hydrogen halo surrounding an ionized central bubble is imprinted with spiral structures, probably shaped by a low-mass companion orbiting the central star at about 40–60 au. The images also reveal a mid-infrared excess at the central star, interpreted as a dusty disk, which is indicative of an interaction with another closer companion. Including the previously known A-type visual companion, the progenitor of the NGC 3132 planetary nebula must have been at least a stellar quartet. The JWST images allow us to generate a model of the illumination, ionization and hydrodynamics of the molecular halo, demonstrating the power of JWST to investigate complex stellar outflows. Furthermore, new measurements of the A-type visual companion allow us to derive the value for the mass of the progenitor of a central star with excellent precision: 2.86 ± 0.06 M⊙. These results serve as pathfinders for future JWST observations of planetary nebulae, providing unique insight into fundamental astrophysical processes including colliding winds and binary star interactions, with implications for supernovae and gravitational-wave systems.
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| 8. |
- Garcia, Adriana Alvarado, et al.
(author)
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Fostering HCI Research in, by, and for Latin America
- 2020
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In: Extended Abstracts of the 2020 CHI Conference on Human Factors in Computing Systems, CHI 2020. - New York, NY, USA : Association for Computing Machinery (ACM).
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Conference paper (peer-reviewed)abstract
- Over the last 20 years, the Latin American Human-Computer Interaction (HCI) community has been working to shed light on how the diverse populations in the region are adopting, using, and making sense of computational technologies. Latin America's tense socio-political context, plurality of languages, collectivist culture, and historical relationship with the Global North make it a unique and rich space for HCI research. Considering the growing number of studies about Latin American communities and the emergent efforts to contribute to the HCI literature, we propose to host a SIG meeting at the 2020 ACM CHI conference. Our goal is to consolidate these efforts to better promote HCI research in, by, and for Latin America, by (1) bringing together researchers, practitioners, and students who are interested in engaging with Latin America through their research and practice, (2) envisioning a shared research agenda, and (3) identifying strategies for making its contributions more visible and impactful in the international community.
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| 9. |
- Soust-Verdaguer, B., et al.
(author)
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Implications of using systematic decomposition structures to organize building LCA information: A comparative analysis of national standards and guidelines- IEA EBC ANNEX 72
- 2020
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In: IOP Conference Series: Earth and Environmental Science. - : IOP Publishing. - 1755-1307 .- 1755-1315. ; 588:2
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Conference paper (peer-reviewed)abstract
- Introduction: The application of the Life Cycle Assessment (LCA) technique to a building requires the collection and organization of a large amount of data over its life cycle. The systematic decomposition method can be used to classify building components, elements and materials, overcome specific difficulties that are encountered when attempting to complete the life cycle inventory and increase the reliability and transparency of results. In this paper, which was developed in the context of the research project IEA EBC Annex 72, we demonstrate the implications of taking such approach and describe the results of a comparison among different national standards/guidelines that are used to conduct LCA for building decomposition. Methods: We initially identified the main characteristics of the standards/guidelines used by Annex participant countries. The “be2226” reference office building was used as a reference to apply the different national standards/guidelines related to building decomposition. It served as a basis of comparison, allowing us to identify the implications of using different systems/standards in the LCA practice, in terms of how these differences affect the LCI structures, LCA databases and the methods used to communicate results. We also analyzed the implications of integrating these standards/guidelines into Building Information Modelling (BIM) to support LCA. Results: Twelve national classification systems/ standards/guidelines for the building decomposition were compared. Differences were identified among the levels of decomposition and grouping principles, as well as the consequences of these differences that were related to the LCI organization. In addition, differences were observed among the LCA databases and the structures of the results. Conclusions: The findings of this study summarize and provide an overview of the most relevant aspects of using a standardized building decomposition structure to conduct LCA. Recommendations are formulated on the basis of these findings.
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| 10. |
- Strangfeld, Anja, et al.
(author)
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Factors associated with COVID-19-related death in people with rheumatic diseases : results from the COVID-19 Global Rheumatology Alliance physician-reported registry
- 2021
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In: Annals of the Rheumatic Diseases. - : BMJ Publishing Group Ltd. - 0003-4967 .- 1468-2060. ; 80:7, s. 930-942
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Journal article (peer-reviewed)abstract
- Objectives: To determine factors associated with COVID-19-related death in people with rheumatic diseases.Methods: Physician-reported registry of adults with rheumatic disease and confirmed or presumptive COVID-19 (from 24 March to 1 July 2020). The primary outcome was COVID-19-related death. Age, sex, smoking status, comorbidities, rheumatic disease diagnosis, disease activity and medications were included as covariates in multivariable logistic regression models. Analyses were further stratified according to rheumatic disease category.Results: Of 3729 patients (mean age 57 years, 68% female), 390 (10.5%) died. Independent factors associated with COVID-19-related death were age (66-75 years: OR 3.00, 95% CI 2.13 to 4.22; >75 years: 6.18, 4.47 to 8.53; both vs ≤65 years), male sex (1.46, 1.11 to 1.91), hypertension combined with cardiovascular disease (1.89, 1.31 to 2.73), chronic lung disease (1.68, 1.26 to 2.25) and prednisolone-equivalent dosage >10 mg/day (1.69, 1.18 to 2.41; vs no glucocorticoid intake). Moderate/high disease activity (vs remission/low disease activity) was associated with higher odds of death (1.87, 1.27 to 2.77). Rituximab (4.04, 2.32 to 7.03), sulfasalazine (3.60, 1.66 to 7.78), immunosuppressants (azathioprine, cyclophosphamide, ciclosporin, mycophenolate or tacrolimus: 2.22, 1.43 to 3.46) and not receiving any disease-modifying anti-rheumatic drug (DMARD) (2.11, 1.48 to 3.01) were associated with higher odds of death, compared with methotrexate monotherapy. Other synthetic/biological DMARDs were not associated with COVID-19-related death.Conclusion: Among people with rheumatic disease, COVID-19-related death was associated with known general factors (older age, male sex and specific comorbidities) and disease-specific factors (disease activity and specific medications). The association with moderate/high disease activity highlights the importance of adequate disease control with DMARDs, preferably without increasing glucocorticoid dosages. Caution may be required with rituximab, sulfasalazine and some immunosuppressants.
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