| 1. |
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| 2. |
- Campbell, PJ, et al.
(författare)
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Pan-cancer analysis of whole genomes
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Tidskriftsartikel (refereegranskat)abstract
- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
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| 3. |
- Munk, P., et al.
(författare)
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Genomic analysis of sewage from 101 countries reveals global landscape of antimicrobial resistance
- 2022
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 13:1
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Tidskriftsartikel (refereegranskat)abstract
- Antimicrobial resistance (AMR) is a major threat to global health. Understanding the emergence, evolution, and transmission of individual antibiotic resistance genes (ARGs) is essential to develop sustainable strategies combatting this threat. Here, we use metagenomic sequencing to analyse ARGs in 757 sewage samples from 243 cities in 101 countries, collected from 2016 to 2019. We find regional patterns in resistomes, and these differ between subsets corresponding to drug classes and are partly driven by taxonomic variation. The genetic environments of 49 common ARGs are highly diverse, with most common ARGs carried by multiple distinct genomic contexts globally and sometimes on plasmids. Analysis of flanking sequence revealed ARG-specific patterns of dispersal limitation and global transmission. Our data furthermore suggest certain geographies are more prone to transmission events and should receive additional attention.
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| 4. |
- Rajewsky, N., et al.
(författare)
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LifeTime and improving European healthcare through cell-based interceptive medicine
- 2020
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Ingår i: Nature. - : Springer Nature. - 0028-0836 .- 1476-4687. ; 587:7834, s. 377-386
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Tidskriftsartikel (refereegranskat)abstract
- LifeTime aims to track, understand and target human cells during the onset and progression of complex diseases and their response to therapy at single-cell resolution. This mission will be implemented through the development and integration of single-cell multi-omics and imaging, artificial intelligence and patient-derived experimental disease models during progression from health to disease. Analysis of such large molecular and clinical datasets will discover molecular mechanisms, create predictive computational models of disease progression, and reveal new drug targets and therapies. Timely detection and interception of disease embedded in an ethical and patient-centered vision will be achieved through interactions across academia, hospitals, patient-associations, health data management systems and industry. Applying this strategy to key medical challenges in cancer, neurological, infectious, chronic inflammatory and cardiovascular diseases at the single-cell level will usher in cell-based interceptive medicine in Europe over the next decade.
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| 5. |
- Sanín, M. J., et al.
(författare)
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Volcanic events coincide with plant dispersal across the Northern Andes
- 2022
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Ingår i: Global and Planetary Change. - : Elsevier BV. - 0921-8181. ; 210
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Tidskriftsartikel (refereegranskat)abstract
- Biological dispersal is increasingly seen as a primary driver of speciation across the tropical Andes. Similarly, growing evidence suggests that the Northern Andes cordilleras formed as disconnected segments, at least until the late Miocene. For montane species, this discontinuity can hinder dispersal to the different mountain segments. Hence, understanding which processes involved in mountain formation are related to species capacity to disperse between mountains is crucial to understanding Andean biogeography. Volcanic eruptions are known to affect biodiversity in different ways, but their effects on species connectivity through the creation of topographic growth remains largely unknown. Species that are distributed in the different geographic units of the Andes can be informative with respect to how and when the different mountains have formed. The wax palms, genus Ceroxylon, comprise 13 strictly Andean species of which three species complexes are widely distributed in the tropical Andes, inhabiting cloud forests at elevations of 1400–3500 m. We sequenced 129 individuals of all but one described species using target sequence capture to reconstruct the phylogenetic history of Ceroxylon. We inferred chronograms using secondary calibrations and demographic modeling, which along with ancestral area reconstructions, allowed us to estimate the relative contributions of dispersal and speciation in the diversification history of Ceroxylon. Geological samples of ignimbritic rocks record a Plio-Pleistocene volcanic eruption of great magnitude that connected the three Colombian cordilleras by increasing topographic growth where a former lowland pass disconnected the northern mountain segments. The timing of this topographic change coincides with an increase in dispersal events to the Western and Central Cordilleras of Colombia from adjacent Andean cordilleras (i.e. the Andes outside of Colombia). Taken together, we determine that local topographic growth resulting from volcanic eruptions played a key role in augmenting mountain chain connectivity by uplift and valley filling, which favored dispersal throughout the Northern Andes. We can spatially and temporally link a biogeographical distribution pattern to a traceable geological event. © 2022 Elsevier B.V.
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| 6. |
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| 7. |
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| 8. |
- Care, O., et al.
(författare)
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Creating leadership collectives for sustainability transformations
- 2021
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Ingår i: Sustainability Science. - : Springer Science and Business Media LLC. - 1862-4065 .- 1862-4057. ; 16:2, s. 703-708
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Tidskriftsartikel (refereegranskat)abstract
- Enduring sustainability challenges requires a new model of collective leadership that embraces critical reflection, inclusivity and care. Leadership collectives can support a move in academia from metrics to merits, from a focus on career to care, and enact a shift from disciplinary to inter- and trans-disciplinary research. Academic organisations need to reorient their training programs, work ethics and reward systems to encourage collective excellence and to allow space for future leaders to develop and enact a radically re-imagined vision of how to lead as a collective with care for people and the planet.
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| 9. |
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| 10. |
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| 11. |
- Valencia, Jhon B., et al.
(författare)
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Predictive Assessment of Climate Change Impact on Water Yield in the Meta River Basin, Colombia : An InVEST Model Application
- 2024
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Ingår i: Hydrology. - 2306-5338. ; 11:2
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Tidskriftsartikel (refereegranskat)abstract
- This paper presents a hydrological assessment of the 113,981 km2 Meta River basin in Colombia using 13 global climate models to predict water yield for 2050 under two CMIP6 scenarios, SSP 4.5 and SSP 8.5. Despite mixed performance across subbasins, the model was notably effective in the upper Meta River subbasin. This study predicts an overall increase in the basin's annual water yield due to increased precipitation, especially in flatter regions. Under the SSP 4.5, the Meta River basin's water flow is expected to rise from 5141.6 m3/s to 6397.5 m3/s, and to 6101.5 m3/s under the SSP 8.5 scenario, marking 24% and 19% increases in water yield, respectively. Conversely, the upper Meta River subbasin may experience a slight decrease in water yield, while the upper Casanare River subbasin is predicted to see significant increases. The South Cravo River subbasin, however, is expected to face a considerable decline in water yield, indicating potential water scarcity. This study represents a pioneering large-scale application of the InVEST-AWY model in Colombia using CMIP6 global climate models with an integrated approach to produce predictions of future water yields.
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| 12. |
- Vicedo-Cabrera, A.M., et al.
(författare)
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The burden of heat-related mortality attributable to recent human-induced climate change
- 2021
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Ingår i: Nature Climate Change. - : Nature Publishing Group. - 1758-678X .- 1758-6798. ; 11:6, s. 492-500
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Tidskriftsartikel (refereegranskat)abstract
- Climate change affects human health; however, there have been no large-scale, systematic efforts to quantify the heat-related human health impacts that have already occurred due to climate change. Here, we use empirical data from 732 locations in 43 countries to estimate the mortality burdens associated with the additional heat exposure that has resulted from recent human-induced warming, during the period 1991–2018. Across all study countries, we find that 37.0% (range 20.5–76.3%) of warm-season heat-related deaths can be attributed to anthropogenic climate change and that increased mortality is evident on every continent. Burdens varied geographically but were of the order of dozens to hundreds of deaths per year in many locations. Our findings support the urgent need for more ambitious mitigation and adaptation strategies to minimize the public health impacts of climate change.
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| 13. |
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| 14. |
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| 15. |
- Auffray, C., et al.
(författare)
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COVID-19 and beyond : a call for action and audacious solidarity to all the citizens and nations, it is humanity’s fight
- 2020
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Ingår i: F1000 Research. - : F1000 Research Ltd. - 2046-1402. ; 9, s. 1130-18
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Tidskriftsartikel (refereegranskat)abstract
- Background: Severe acute respiratory syndrome coronavirus 2 (SARSCoV-2) belongs to a subgroup of coronaviruses rampant in bats for centuries. It caused the coronavirus disease 2019 (COVID-19) pandemic. Most patients recover, but a minority of severe cases experience acute respiratory distress or an inflammatory storm devastating many organs that can lead to patient death. The spread of SARS-CoV-2 was facilitated by the increasing intensity of air travel, urban congestion and human contact during the past decades. Until therapies and vaccines are available, tests for virus exposure, confinement and distancing measures have helped curb the pandemic. Vision: The COVID-19 pandemic calls for safeguards and remediation measures through a systemic response. Self-organizing initiatives by scientists and citizens are developing an advanced collective intelligence response to the coronavirus crisis. Their integration forms Olympiads of Solidarity and Health. Their ability to optimize our response to COVID-19 could serve as a model to trigger a global metamorphosis of our societies with far-reaching consequences for attacking fundamental challenges facing humanity in the 21st century. Mission: For COVID-19 and these other challenges, there is no alternative but action. Meeting in Paris in 2003, we set out to "rethink research to understand life and improve health." We have formed an international coalition of academia and industry ecosystems taking a systems medicine approach to understanding COVID-19 by thoroughly characterizing viruses, patients and populations during the pandemic, using openly shared tools. All results will be publicly available with no initial claims for intellectual property rights. This World Alliance for Health and Wellbeing will catalyze the creation of medical and health products such as diagnostic tests, drugs and vaccines that become common goods accessible to all, while seeking further alliances with civil society to bridge with socio-ecological and technological approaches that characterise urban systems, for a collective response to future health emergencies.
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| 16. |
- Boddaert, S., et al.
(författare)
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Fire safety of BIPV : International mapping of accredited and R&D facilities in the context of codes and standards 2023
- 2023
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- The objective of Task 15 of the IEA Photovoltaic Power Systems Programme is to create an enabling framework to accelerate the penetration of BIPV products in the global market of renewables, resulting in an equal playing field for BIPV products, BAPV products and regular building envelope components, respecting mandatory issues, aesthetic issues, reliability issues, and financial issues.Subtask E of Task 15 is focused on pre-normative international research on BIPV characterisation methods and activity E.3 is dedicated to fire safety of BIPV modules and installations.
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| 17. |
- Freire, Rafael V.M., et al.
(författare)
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Antimicrobial peptide induced colloidal transformations in bacteria-mimetic vesicles : combining in silico tools and experimental methods
- 2021
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Ingår i: Journal of Colloid and Interface Science. - : Elsevier. - 0021-9797 .- 1095-7103. ; 596, s. 352-363
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Tidskriftsartikel (refereegranskat)abstract
- With the growing challenges of bacteria becoming resistant to conventional antibiotics, antimicrobial peptides (AMPs) may offer a potential alternative. One of the most studied AMPs, the human cathelicidin derived AMP LL-37 is notable for its antimicrobial activity even though its mechanism of action is not fully understood yet. This work investigates the interaction of LL-37 with 1-Palmitoyl-2-oleoyl-sn-glycero-3-phospho-rac-(1-glycerol) (POPG) vesicles, which were employed as a bacterial membrane model given the common presence of this phospholipid in the bacterial membrane. Experimental techniques including small angle X-ray scattering, transmission electron microscopy and dynamic light scattering were used to characterize the interactions among LL-37 and POPG. Molecular dynamics simulations complement the experimental studies with molecular-level insights into the process. LL-37 was discovered to actively and critically interact with the POPG vesicles, modifying the membrane curvature that eventually leads to structural transformations from vesicles to mixed micelles. The results shed light on the mechanisms underlying the interactions among LL-37 and bacteria mimetic vesicles and can guide the further development of AMP based antimicrobial materials and therapies.
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| 18. |
- Gonzalez-Ortiz, A, et al.
(författare)
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Sleep Quality After Intradialytic Oral Nutrition: A New Benefit of This Anabolic Strategy? A Pilot Study
- 2022
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Ingår i: Frontiers in nutrition. - : Frontiers Media SA. - 2296-861X. ; 9, s. 882367-
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Tidskriftsartikel (refereegranskat)abstract
- Since disturbances of appetite and sleep are closely related and both affect metabolic disorders, it would be expected that a renal specific oral nutritional supplement (RS-ONS) that covers the energy the patient does not consume on the HD day, could contribute to improve the nutritional status and body composition, as well as sleep quality. There is still scarce information related to this topic.AimTo evaluate the effect of the use of intra-dialytic RS-ONS vs. RS-ONS at home on sleep quality, nutritional status, and body composition in patients on HD.MethodsAdult patients < 65 years, with ≥3 months on HD were invited to participate in an open randomized pilot study (ISRCTN 33897). Patients were randomized to a dialysis-specific high-protein supplement provided during the HD session (Intradialytic oral nutrition [ION]) or at home (control), during non-HD days (thrice weekly, for both) 12 weeks. The primary outcome was sleep quality defined by the Pittsburgh Sleep Quality Index (PSQI) score. Nutritional assessment included Malnutrition Inflammation Score (MIS), bioelectrical impedance analysis, anthropometry, 3-day food records, and routine blood chemistries.ResultsA total of 23 patients completed the study. Age was median 35 (range 24–48 years), 42% were women. At baseline, the PSQI score was median 4 (range 2–7), and MIS showed a median of 6 (range 5–8); there were no baseline differences between groups. After intervention, both groups improved their MIS scores and similarly when we analyzed the whole cohort (pre- vs. post-intervention P < 0.01). Patients in the ION group improved the overall PSQI score to median 3 (2–5), and assessment of sleep duration and sleep disturbances (pre- vs. post-intervention P < 0.05), with a trend toward an effect difference compared to patients consuming the supplement at home (P for treatment-effect across arms 0.07 for PSQI score and 0.05 for sleep latency).ConclusionOral supplementation improved nutritional status in the whole cohort, but only ION improved the PSQI score. More studies are needed to explore the nutritional strategies that influence the relationship between sleep and nutritional status in HD patients.
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| 19. |
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| 20. |
- Hernandez-Hernandez, A, et al.
(författare)
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The Transcriptomic Landscape of Pediatric Astrocytoma
- 2022
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Ingår i: International journal of molecular sciences. - : MDPI AG. - 1422-0067. ; 23:20
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Tidskriftsartikel (refereegranskat)abstract
- Central nervous system tumors are the most common solid neoplasia during childhood and represent one of the leading causes of cancer-related mortality. Tumors arising from astrocytic cells (astrocytomas) are the most frequently diagnosed, and according to their histological and pathological characteristics, they are classified into four categories. However, an additional layer of molecular classification considering the DNA sequence of the tumorigenesis-associated genes IDH1/2 and H3F3A has recently been incorporated into the classification guidelines. Although mutations in H3F3A are found exclusively in a subtype of grade IV pediatric astrocytoma, mutations in IDH1/2 genes are very rare in children under 14 years of age. The transcriptomic profiles of astrocytoma in adults and children have been extensively studied. However, there is scarce information on these profiles in pediatric populations considering the status of tumorigenesis-associated genes. Therefore, here we report the transcriptomic landscape of the four grades of pediatric astrocytoma by RNA sequencing. We found several well-documented biological functions associated with the misregulated genes in the four grades of astrocytoma, as well as additional biological pathways. Among the four grades of astrocytoma, we found shared misregulated genes that could have implications in tumorigenesis. Finally, we identified a transcriptional signature for almost all grades of astrocytoma that could be used as a transcription-based identification method.
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| 21. |
- Mahajan, Shauna L., et al.
(författare)
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Introducing Elinor for monitoring the governance and management of area-based conservation
- 2024
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Ingår i: Conservation Biology. - 0888-8892 .- 1523-1739. ; 38:2
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Tidskriftsartikel (refereegranskat)abstract
- Monitoring the governance and management effectiveness of area-based conservation has long been recognized as an important foundation for achieving national and global biodiversity goals and enabling adaptive management. However, there are still many barriers that prevent conservation actors, including those affected by governance and management systems from implementing conservation activities and programs and from gathering and using data on governance and management to inform decision-making across spatial scales and through time. We explored current and past efforts to assess governance and management effectiveness and barriers actors face in using the resulting data and insights to inform conservation decision-making. To help overcome these barriers, we developed Elinor, a free and open-source monitoring tool that builds on the work of Nobel Prize winner Elinor Ostrom to facilitate the gathering, storing, sharing, analyzing, and use of data on environmental governance and management across spatial scales and for areas under different governance and management types. We consider the process of codesigning and piloting Elinor with conservation scientists and practitioners and the main components of the assessment and online data system. We also consider how Elinor complements existing approaches by addressing governance and management in a single assessment at a high level for different types of area-based conservation, providing flexible options for data collection, and integrating a data system with an assessment that can support data use and sharing across different spatial scales, including global monitoring of the Global Biodiversity Framework. Although challenges will continue, the process of developing Elinor and the tool itself offer tangible solutions to barriers that prevent the systematic collection and use of governance and management data. With broader uptake, Elinor can play a valuable role in enabling more effective, inclusive, and durable area-based conservation.
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| 22. |
- Medina-Vega, José A., et al.
(författare)
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Tropical tree ectomycorrhiza are distributed independently of soil nutrients
- 2024
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Ingår i: Nature Ecology and Evolution. - 2397-334X. ; 8, s. 400-410
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Tidskriftsartikel (refereegranskat)abstract
- Mycorrhizae, a form of plant–fungal symbioses, mediate vegetation impacts on ecosystem functioning. Climatic effects on decomposition and soil quality are suggested to drive mycorrhizal distributions, with arbuscular mycorrhizal plants prevailing in low-latitude/high-soil-quality areas and ectomycorrhizal (EcM) plants in high-latitude/low-soil-quality areas. However, these generalizations, based on coarse-resolution data, obscure finer-scale variations and result in high uncertainties in the predicted distributions of mycorrhizal types and their drivers. Using data from 31 lowland tropical forests, both at a coarse scale (mean-plot-level data) and fine scale (20 × 20 metres from a subset of 16 sites), we demonstrate that the distribution and abundance of EcM-associated trees are independent of soil quality. Resource exchange differences among mycorrhizal partners, stemming from diverse evolutionary origins of mycorrhizal fungi, may decouple soil fertility from the advantage provided by mycorrhizal associations. Additionally, distinct historical biogeographies and diversification patterns have led to differences in forest composition and nutrient-acquisition strategies across three major tropical regions. Notably, Africa and Asia’s lowland tropical forests have abundant EcM trees, whereas they are relatively scarce in lowland neotropical forests. A greater understanding of the functional biology of mycorrhizal symbiosis is required, especially in the lowland tropics, to overcome biases from assuming similarity to temperate and boreal regions.
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| 23. |
- Mora-Rojas, L., et al.
(författare)
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Stratigraphy of a middle Miocene neotropical Lagerstatte (La Venta Site, Colombia)
- 2023
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Ingår i: Geodiversitas. - 1280-9659. ; 45:6, s. 197-221
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Tidskriftsartikel (refereegranskat)abstract
- The middle Miocene Konzentrat-Lagerstatte of the La Venta site recorded in the Honda Group contains invaluable information on the biotic response to the climatic changes of the Miocene Climatic Transition. Its fossil record has been studied for almost a century and offers one of the best windows to the Neotropics terrestrial ecosystems during the Neogene. We have compiled all published studies and, using graphic correlation and a recently published geological map for the region, placed them into a composite standard section. Furthermore, we improved its chronostratigraphic control by analyzing new geochronological data (U-Pb in zircons) and developing a probabilistic age model using a Bayesian framework. The results suggest that most of the fossil assemblage of the Honda Group accumulated in a meandriform fluvial system (upper part of La Victoria Formation - lower part of Villavieja Formation) that later shifted to an anastomosed system (upper part of Villavieja Formation). The c. 552-m-thick La Victoria Formation is younger than 16 Ma and older than 12.58 Ma, whereas the c. 569-m-thick Villavieja Formation is younger than 12.58 Ma and older than 10.52 Ma. The La Venta site is crucial for understanding Miocene paleoecological dynamics in northern South America, but despite decades of studies, it is still in the early phase of exploration.
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| 24. |
- Smith, ER, et al.
(författare)
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Adverse maternal, fetal, and newborn outcomes among pregnant women with SARS-CoV-2 infection: an individual participant data meta-analysis
- 2023
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Ingår i: BMJ global health. - : BMJ. - 2059-7908. ; 8:1
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Tidskriftsartikel (refereegranskat)abstract
- Despite a growing body of research on the risks of SARS-CoV-2 infection during pregnancy, there is continued controversy given heterogeneity in the quality and design of published studies.MethodsWe screened ongoing studies in our sequential, prospective meta-analysis. We pooled individual participant data to estimate the absolute and relative risk (RR) of adverse outcomes among pregnant women with SARS-CoV-2 infection, compared with confirmed negative pregnancies. We evaluated the risk of bias using a modified Newcastle-Ottawa Scale.ResultsWe screened 137 studies and included 12 studies in 12 countries involving 13 136 pregnant women.Pregnant women with SARS-CoV-2 infection—as compared with uninfected pregnant women—were at significantly increased risk of maternal mortality (10 studies; n=1490; RR 7.68, 95% CI 1.70 to 34.61); admission to intensive care unit (8 studies; n=6660; RR 3.81, 95% CI 2.03 to 7.17); receiving mechanical ventilation (7 studies; n=4887; RR 15.23, 95% CI 4.32 to 53.71); receiving any critical care (7 studies; n=4735; RR 5.48, 95% CI 2.57 to 11.72); and being diagnosed with pneumonia (6 studies; n=4573; RR 23.46, 95% CI 3.03 to 181.39) and thromboembolic disease (8 studies; n=5146; RR 5.50, 95% CI 1.12 to 27.12).Neonates born to women with SARS-CoV-2 infection were more likely to be admitted to a neonatal care unit after birth (7 studies; n=7637; RR 1.86, 95% CI 1.12 to 3.08); be born preterm (7 studies; n=6233; RR 1.71, 95% CI 1.28 to 2.29) or moderately preterm (7 studies; n=6071; RR 2.92, 95% CI 1.88 to 4.54); and to be born low birth weight (12 studies; n=11 930; RR 1.19, 95% CI 1.02 to 1.40). Infection was not linked to stillbirth. Studies were generally at low or moderate risk of bias.ConclusionsThis analysis indicates that SARS-CoV-2 infection at any time during pregnancy increases the risk of maternal death, severe maternal morbidities and neonatal morbidity, but not stillbirth or intrauterine growth restriction. As more data become available, we will update these findings per the published protocol.
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