| 1. |
- Arboleda-Velasquez, Joseph F, et al.
(author)
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Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.
- 2019
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In: Nature medicine. - : Springer Science and Business Media LLC. - 1546-170X .- 1078-8956. ; 25:11, s. 1680-1683
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Journal article (peer-reviewed)abstract
- We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset. The individual had two copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid levels and limited tau and neurodegenerative measurements. Our findings have implications for the role of APOE in the pathogenesis, treatment and prevention of Alzheimer's disease.
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| 2. |
- Cabovska, Blanka, 1990, et al.
(author)
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Measured and perceived IEQ under different ventilation strategies in Swedish classrooms
- 2022
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In: 17th International Conference on Indoor Air Quality and Climate, INDOOR AIR 2022.
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Conference paper (peer-reviewed)abstract
- Indoor environmental quality was assessed in Swedish primary school classrooms grouped into three categories based on the ventilation system: 1) natural or exhaust ventilation, 2) balanced mechanical ventilation systems with constant air volume (CAV), 3) balanced mechanical ventilation systems with variable air volume (VAV). Measurements of NO2, ozone, TVOC, formaldehyde, PM10, and PM2.5 and a questionnaire survey were conducted. The concentrations of pollutants were integrated into Indoor Air Pollution Index allowing the rank comparison of classrooms. Children’s perception scores were calculated based on the questionnaire responses. Naturally ventilated classrooms had higher level of air pollution. No significant differences in pollutant levels were observed between classrooms with CAV and VAV systems. The type of ventilation system affected the subjective assessment of indoor air quality; it was worst in naturally ventilated classrooms.
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| 3. |
- Chinazzo, Giorgia, et al.
(author)
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Quality criteria for multi-domain studies in the indoor environment: Critical review towards research guidelines and recommendations
- 2022
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In: Building and Environment. - : Elsevier BV. - 0360-1323. ; 226
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Research review (peer-reviewed)abstract
- The perception, physiology, behavior, and performance of building occupants are influenced by multi-domain exposures: the simultaneous presence of multiple environmental stimuli, i.e., visual, thermal, acoustic, and air quality. Despite being extensive, the literature on multi-domain exposures presents heterogeneous methodological approaches and inconsistent study reporting, which hinder direct comparison between studies and meta-analyses. Therefore, in addition to carrying out more multi-domain studies, such investigations need to be designed, conducted, and documented in a systematic and transparent way. With the goal to facilitate and support future multi-domain studies and their meta-analyses, this work provides (1) a range of criteria for multi-domain study design and reporting (i.e., defined as quality criteria), and (2) a critical review of the multi-domain literature based on the described criteria, which can serve as guidelines and recommendations for future studies on the topic. The identified quality criteria encompass study set-up, study deployment and analysis, and study outcome, stressing the importance of adopting a consistent terminology and result reporting style. The developed critical review highlights several shortcomings in the design, deployment, and documentation of multi-domain studies, emphasizing the need for quality improvements of future multi-domain research. The ultimate goal of this work is to consolidate our knowledge on multi-domain exposures for its integration into regulatory resources and guidelines, which are currently dominated by single-domain knowledge.
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| 4. |
- Foeldvari, Ivan, et al.
(author)
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Differences Sustained Between Diffuse and Limited Forms of Juvenile Systemic Sclerosis in an Expanded International Cohort
- 2022
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In: Arthritis care & research. - : John Wiley & Sons. - 2151-464X .- 2151-4658. ; 74:10, s. 1575-1584
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Journal article (peer-reviewed)abstract
- Objective To evaluate the baseline clinical characteristics of juvenile systemic sclerosis (SSc) patients in the international juvenile SSc inception cohort, and to compare these characteristics between the classically defined juvenile diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) subtypes and among those with overlap features. Methods A cross-sectional study was performed using baseline visit data. Information on demographic characteristics, organ system evaluation, treatment, and patient- and physician-reported outcomes was extracted and summary statistics applied. Comparisons between juvenile dcSSc and lcSSc subtypes and patients with and without overlap features were performed using chi-square and Mann-Whitney U tests. Results At data extraction, 150 juvenile SSc patients were enrolled across 42 centers; 83% were White, 80% were female, juvenile dcSSc predominated (72%), and 17% of the cohort had overlap features. Significant differences were found between juvenile dcSSc and juvenile lcSSc regarding modified Rodnan skin thickness score, the presence of Gottron's papules, digital tip ulceration, results of the 6-minute walk test, and composite pulmonary and cardiac involvement. All of these were more frequent in dcSSc except for cardiac involvement. Juvenile dcSSc patients had significantly worse scores for physician-rated disease activity and damage. A significantly higher occurrence of Gottron's papules and musculoskeletal and composite pulmonary involvement, and a significantly lower frequency of Raynaud's phenomenon, were seen in those with overlap features. Conclusion Results from a large international juvenile SSc cohort demonstrate significant differences between juvenile dcSSc and juvenile lcSSc patients, including more globally severe disease and increased frequency of interstitial lung disease in juvenile dcSSc patients, while those with lcSSc have more frequent cardiac involvement. Those with overlap features had an unexpected higher frequency of interstitial lung disease.
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| 5. |
- Foeldvari, Ivan, et al.
(author)
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Gender differences in juvenile systemic sclerosis patients : Results from the international juvenile scleroderma inception cohort
- 2023
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In: Journal of Scleroderma and Related Disorders. - : Sage Publications. - 2397-1983 .- 2397-1991. ; 8:2, s. 120-130
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Journal article (peer-reviewed)abstract
- Objective: To compare organ involvement and disease severity between male and female patients with juvenile onset systemic sclerosis.Methods: Demographics, organ involvement, laboratory evaluation, patient-reported outcomes and physician assessment variables were compared between male and female juvenile onset systemic sclerosis patients enrolled in the prospective international juvenile systemic sclerosis cohort at their baseline visit and after 12 months.Results: One hundred and seventy-five juvenile onset systemic sclerosis patients were evaluated, 142 females and 33 males. Race, age of onset, disease duration, and disease subtypes (70% diffuse cutaneous) were similar between males and females. Active digital ulceration, very low body mass index, and tendon friction rubs were significantly more frequent in males. Physician global assessment of disease severity and digital ulcer activity was significantly higher in males. Composite pulmonary involvement was also more frequent in males, though not statistically significantly. After 12 months, they are the pattern of differences changed female patients had significantly more frequent pulmonary involvement.Conclusion: In this cohort, juvenile onset systemic sclerosis had a more severe course in males at baseline and but the pattern changed after 12 months. Some differences from adult findings persisted, there is no increased signal of pulmonary arterial hypertension or heart failure in male pediatric patients. While monitoring protocols of organ involvement in juvenile onset systemic sclerosis need to be identical for males and females.
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| 6. |
- Foeldvari, Ivan, et al.
(author)
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Underdetection of Interstitial Lung Disease in Juvenile Systemic Sclerosis
- 2022
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In: Arthritis care & research. - : John Wiley & Sons. - 2151-464X .- 2151-4658. ; 74:3, s. 364-370
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Journal article (peer-reviewed)abstract
- Objective. Utilizing data obtained from a prospective, international, juvenile systemic sclerosis (SSc) cohort, the present study was undertaken to determine if pulmonary screening with forced vital capacity (FVC) and diffusing capacity for carbon monoxide (DLco) is sufficient to assess the presence of interstitial lung disease (ILD) in comparison to high-resolution computed tomography (HRCT) in juvenile SSc. Methods. The juvenile SSc cohort database was queried for patients enrolled from January 2008 to January 2020 with recorded pulmonary function tests (PFTs) parameters and HRCT to determine the discriminatory properties of P FT parameters, FVC, and DLco in detecting ILD. Results. Eighty-six juvenile SSc patients had both computed tomography imaging and FVC values for direct comparison. Using findings on HRCT as the standard measure of ILD presence, the sensitivity of FVC in detecting ILD in juvenile SSc was only 40%, the specificity was 77%, and area under the curve (AUC) was 0.58. Fifty-eight juvenile SSc patients had both CT imaging and DLco values for comparison. The sensitivity of DLco in detecting ILD was 76%, the specificity was 70%, and AUC was 0.73. Conclusion. The performance of PFTs in juvenile SSc to detect underlying ILD was quite limited. Specifically, the FVC, which is one of the main clinical parameters in adult SSc to detect and monitor ILD, would miss -60% of children who had ILD changes on their accompanying HRCT. The DLco was more sensitive in detecting potential abnormalities on HRCT, but with less specificity than the FVC. These results support the use of HRCT in tandem with PFTs for the screening of ILD in juvenile SSc.
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| 7. |
- Householder, John Ethan, et al.
(author)
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One sixth of Amazonian tree diversity is dependent on river floodplains
- 2024
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In: NATURE ECOLOGY & EVOLUTION. - 2397-334X.
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Journal article (peer-reviewed)abstract
- Amazonia's floodplain system is the largest and most biodiverse on Earth. Although forests are crucial to the ecological integrity of floodplains, our understanding of their species composition and how this may differ from surrounding forest types is still far too limited, particularly as changing inundation regimes begin to reshape floodplain tree communities and the critical ecosystem functions they underpin. Here we address this gap by taking a spatially explicit look at Amazonia-wide patterns of tree-species turnover and ecological specialization of the region's floodplain forests. We show that the majority of Amazonian tree species can inhabit floodplains, and about a sixth of Amazonian tree diversity is ecologically specialized on floodplains. The degree of specialization in floodplain communities is driven by regional flood patterns, with the most compositionally differentiated floodplain forests located centrally within the fluvial network and contingent on the most extraordinary flood magnitudes regionally. Our results provide a spatially explicit view of ecological specialization of floodplain forest communities and expose the need for whole-basin hydrological integrity to protect the Amazon's tree diversity and its function.
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| 8. |
- Luize, Bruno Garcia, et al.
(author)
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Geography and ecology shape the phylogenetic composition of Amazonian tree communities
- 2024
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In: JOURNAL OF BIOGEOGRAPHY. - 0305-0270 .- 1365-2699.
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Journal article (peer-reviewed)abstract
- Aim: Amazonia hosts more tree species from numerous evolutionary lineages, both young and ancient, than any other biogeographic region. Previous studies have shown that tree lineages colonized multiple edaphic environments and dispersed widely across Amazonia, leading to a hypothesis, which we test, that lineages should not be strongly associated with either geographic regions or edaphic forest types. Location: Amazonia. Taxon: Angiosperms (Magnoliids; Monocots; Eudicots). Methods: Data for the abundance of 5082 tree species in 1989 plots were combined with a mega-phylogeny. We applied evolutionary ordination to assess how phylogenetic composition varies across Amazonia. We used variation partitioning and Moran's eigenvector maps (MEM) to test and quantify the separate and joint contributions of spatial and environmental variables to explain the phylogenetic composition of plots. We tested the indicator value of lineages for geographic regions and edaphic forest types and mapped associations onto the phylogeny. Results: In the terra firme and v & aacute;rzea forest types, the phylogenetic composition varies by geographic region, but the igap & oacute; and white-sand forest types retain a unique evolutionary signature regardless of region. Overall, we find that soil chemistry, climate and topography explain 24% of the variation in phylogenetic composition, with 79% of that variation being spatially structured (R-2 = 19% overall for combined spatial/environmental effects). The phylogenetic composition also shows substantial spatial patterns not related to the environmental variables we quantified (R-2 = 28%). A greater number of lineages were significant indicators of geographic regions than forest types. Main Conclusion: Numerous tree lineages, including some ancient ones (>66 Ma), show strong associations with geographic regions and edaphic forest types of Amazonia. This shows that specialization in specific edaphic environments has played a long-standing role in the evolutionary assembly of Amazonian forests. Furthermore, many lineages, even those that have dispersed across Amazonia, dominate within a specific region, likely because of phylogenetically conserved niches for environmental conditions that are prevalent within regions.
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| 9. |
- ter Steege, Hans, et al.
(author)
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Mapping density, diversity and species-richness of the Amazon tree flora
- 2023
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In: COMMUNICATIONS BIOLOGY. - 2399-3642. ; 6:1
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Journal article (peer-reviewed)abstract
- Using 2.046 botanically-inventoried tree plots across the largest tropical forest on Earth, we mapped tree species-diversity and tree species-richness at 0.1-degree resolution, and investigated drivers for diversity and richness. Using only location, stratified by forest type, as predictor, our spatial model, to the best of our knowledge, provides the most accurate map of tree diversity in Amazonia to date, explaining approximately 70% of the tree diversity and species-richness. Large soil-forest combinations determine a significant percentage of the variation in tree species-richness and tree alpha-diversity in Amazonian forest-plots. We suggest that the size and fragmentation of these systems drive their large-scale diversity patterns and hence local diversity. A model not using location but cumulative water deficit, tree density, and temperature seasonality explains 47% of the tree species-richness in the terra-firme forest in Amazonia. Over large areas across Amazonia, residuals of this relationship are small and poorly spatially structured, suggesting that much of the residual variation may be local. The Guyana Shield area has consistently negative residuals, showing that this area has lower tree species-richness than expected by our models. We provide extensive plot meta-data, including tree density, tree alpha-diversity and tree species-richness results and gridded maps at 0.1-degree resolution. A study mapping the tree species richness in Amazonian forests shows that soil type exerts a strong effect on species richness, probably caused by the areas of these forest types. Cumulative water deficit, tree density and temperature seasonality affect species richness at a regional scale.
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| 10. |
- Vasquez, Natalia Giraldo, et al.
(author)
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Ventilation strategies and children's perception of the indoor environment in Swedish primary school classrooms
- 2023
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In: Building and Environment. - 0360-1323. ; 240
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Journal article (peer-reviewed)abstract
- This study explored the relationship between children's subjective perception of indoor environmental quality in classrooms, measured thermal and air quality factors, and the type of ventilation. Environmental data were collected in 45 classrooms in 23 primary schools in Sweden during the heating season. Schools with three types of ventilation were recruited: natural or exhaust ventilation (category A), balanced supply-exhaust with constant air volume (category B), and balanced supply-exhaust with variable air volume or demand-controlled ventilation (category C). 796 children (8–14 years of age) answered a questionnaire about their perception of the classroom's indoor environment. Based on ten dichotomous questions, the children's overall perceptions and subjective well-being was scored (“Individual score”) from worst (0) to best (10) perception. A Perception Index (PI) was calculated as the arithmetic mean of the Individual scores from all children in a given classroom. We did not find statistically significant differences in the Individual scores or PI between the three ventilation categories. However, the PI of classrooms with ventilation category A, which also had lower ventilation rates and higher concentrations of pollutants, was noticeably lower than that in classrooms with ventilation category B or C. Correlations between the PI and most of the measured environmental parameters or the individual questions about perception were weak and not significant. The PI may be improved by including factors not considered in this study, such as those related to acoustic and lighting conditions.
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