11. |
- Watson, Hunna J., et al.
(author)
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Common Genetic Variation and Age of Onset of Anorexia Nervosa
- 2022
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In: BIOLOGICAL PSYCHIATRY: GLOBAL OPEN SCIENCE. - : Elsevier BV. - 2667-1743. ; 2:4, s. 368-378
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Journal article (peer-reviewed)abstract
- BACKGROUND: Genetics and biology may influence the age of onset of anorexia nervosa (AN). The aims of this study were to determine whether common genetic variation contributes to age of onset of AN and to investigate the genetic associations between age of onset of AN and age at menarche.METHODS: A secondary analysis of the Psychiatric Genomics Consortium genome-wide association study (GWAS) of AN was performed, which included 9335 cases and 31,981 screened controls, all from European ancestries. We conducted GWASs of age of onset, early-onset AN (,13 years), and typical-onset AN, and genetic correlation, genetic risk score, and Mendelian randomization analyses.RESULTS: Two loci were genome-wide significant in the typical-onset AN GWAS. Heritability estimates (single nucleotide polymorphism-h2) were 0.01-0.04 for age of onset, 0.16-0.25 for early-onset AN, and 0.17-0.25 for typical-onset AN. Early-and typical-onset AN showed distinct genetic correlation patterns with putative risk factors for AN. Specifically, early-onset AN was significantly genetically correlated with younger age at menarche, and typical-onset AN was significantly negatively genetically correlated with anthropometric traits. Genetic risk scores for age of onset and early-onset AN estimated from independent GWASs significantly predicted age of onset. Mendelian randomization analysis suggested a causal link between younger age at menarche and early -onset AN.CONCLUSIONS: Our results provide evidence consistent with a common variant genetic basis for age of onset and implicate biological pathways regulating menarche and reproduction.
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12. |
- Adamina, Michel, et al.
(author)
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ECCO Guidelines on Therapeutics in Crohns Disease: Surgical Treatment
- 2020
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In: Journal of Crohn's & Colitis. - : OXFORD UNIV PRESS. - 1873-9946 .- 1876-4479. ; 14:2, s. 155-168
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Journal article (peer-reviewed)abstract
- This article is the second in a series of two publications relating to the European Crohns and Colitis Organisation [ECCO] evidence-based consensus on the management of Crohns disease. The first article covers medical management; the present article addresses surgical management, including preoperative aspects and drug management before surgery. It also provides technical advice for a variety of common clinical situations. Both articles together represent the evidence-based recommendations of the ECCO for Crohns disease and an update of previous guidelines.
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13. |
- Bahr, Roald, et al.
(author)
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International Olympic Committee consensus statement: methods for recording and reporting of epidemiological data on injury and illness in sport 2020 (including STROBE Extension for Sport Injury and Illness Surveillance (STROBE-SIIS))
- 2020
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In: British Journal of Sports Medicine. - : BMJ PUBLISHING GROUP. - 0306-3674 .- 1473-0480. ; 54:7, s. 372-389
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Journal article (peer-reviewed)abstract
- Injury and illness surveillance, and epidemiological studies, are fundamental elements of concerted efforts to protect the health of the athlete. To encourage consistency in the definitions and methodology used, and to enable data across studies to be compared, research groups have published 11 sport-specific or setting-specific consensus statements on sports injury (and, eventually, illness) epidemiology to date. Our objective was to further strengthen consistency in data collection, injury definitions and research reporting through an updated set of recommendations for sports injury and illness studies, including a new Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) checklist extension. The IOC invited a working group of international experts to review relevant literature and provide recommendations. The procedure included an open online survey, several stages of text drafting and consultation by working groups and a 3-day consensus meeting in October 2019. This statement includes recommendations for data collection and research reporting covering key components: defining and classifying health problems; severity of health problems; capturing and reporting athlete exposure; expressing risk; burden of health problems; study population characteristics and data collection methods. Based on these, we also developed a new reporting guideline as a STROBE Extension-the STROBE Sports Injury and Illness Surveillance (STROBE-SIIS). The IOC encourages ongoing in- and out-of-competition surveillance programmes and studies to describe injury and illness trends and patterns, understand their causes and develop measures to protect the health of the athlete. Implementation of the methods outlined in this statement will advance consistency in data collection and research reporting.
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14. |
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15. |
- Bianco, Federica B., et al.
(author)
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Optimization of the Observing Cadence for the Rubin Observatory Legacy Survey of Space and Time : A Pioneering Process of Community-focused Experimental Design
- 2022
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In: Astrophysical Journal Supplement Series. - : American Astronomical Society. - 0067-0049 .- 1538-4365. ; 258:1
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Journal article (peer-reviewed)abstract
- Vera C. Rubin Observatory is a ground-based astronomical facility under construction, a joint project of the National Science Foundation and the U.S. Department of Energy, designed to conduct a multipurpose 10 yr optical survey of the Southern Hemisphere sky: the Legacy Survey of Space and Time. Significant flexibility in survey strategy remains within the constraints imposed by the core science goals of probing dark energy and dark matter, cataloging the solar system, exploring the transient optical sky, and mapping the Milky Way. The survey's massive data throughput will be transformational for many other astrophysics domains and Rubin's data access policy sets the stage for a huge community of potential users. To ensure that the survey science potential is maximized while serving as broad a community as possible, Rubin Observatory has involved the scientific community at large in the process of setting and refining the details of the observing strategy. The motivation, history, and decision-making process of this strategy optimization are detailed in this paper, giving context to the science-driven proposals and recommendations for the survey strategy included in this Focus Issue.
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16. |
- Bousquet, Jean, et al.
(author)
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ARIA digital anamorphosis : Digital transformation of health and care in airway diseases from research to practice
- 2021
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In: Allergy. European Journal of Allergy and Clinical Immunology. - : John Wiley & Sons. - 0105-4538 .- 1398-9995. ; 76:1, s. 168-190
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Research review (peer-reviewed)abstract
- Digital anamorphosis is used to define a distorted image of health and care that may be viewed correctly using digital tools and strategies. MASK digital anamorphosis represents the process used by MASK to develop the digital transformation of health and care in rhinitis. It strengthens the ARIA change management strategy in the prevention and management of airway disease. The MASK strategy is based on validated digital tools. Using the MASK digital tool and the CARAT online enhanced clinical framework, solutions for practical steps of digital enhancement of care are proposed.
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17. |
- Buckley, Scott, et al.
(author)
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Using microdialysis with a deuterium oxide tracer to estimate water exchange, water content and active surface area of the probe
- 2023
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In: Geoderma. - 0016-7061 .- 1872-6259. ; 439
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Journal article (peer-reviewed)abstract
- Microdialysis is a useful tool for measuring in situ fluxes of soil compounds with minimal disturbance of soil structure and function. Fluxes of sampled compounds are commonly calculated per unit of membrane surface area, assuming that the entire membrane surface is capable of exchange - which is unlikely given varying soil moisture and the occlusion of membrane pores by the soil solid phase. We present a method to quantify the degree of connectivity of the microdialysis probe membrane to the surrounding soil by means of water exchange between a microdialysis perfusate and soil solution using deuterium (2H2O; equilibrated to DHO) as an internal standard. We applied the method to a range of probe membrane surface areas and soil moisture conditions to generate empirical models that estimate membrane surface area active in exchange. Our results suggest that even in a saturated sandy soil, active membrane surface areas reach only 40.3% of the probe surface area, perhaps due to occlusion by soil particles. However, when accounting for volumetric water content of the soil, active surface areas approached 80-90% of the area likely in contact with water, indicating that sampling efficiency of waterfilled pores may still be high, particularly at slow flow rates. Furthermore, our method enables assessment of local soil water content around the probe. Models estimating soil water content were applied to field measurements of DHO exchange in three soil horizons (Organic, B1, B2) at two boreal sites, and in situ estimates were similar to those from conventional soil moisture methods when models were calibrated with the same soil type. We present DHO exchange as a powerful method for improving microdialysis flux interpretations in future studies, and for exploring small-scale water variability in relatively undisturbed soils.
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18. |
- Daelman, Bo, et al.
(author)
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Frailty and cognitive function in middle-aged and older adults with congenital heart disease
- 2024
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In: Journal of the American College of Cardiology. - : Elsevier. - 0735-1097 .- 1558-3597. ; 83:12, s. 1149-1159
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Journal article (peer-reviewed)abstract
- Background: Life expectancy of patients with congenital heart disease (CHD) has increased rapidly, resulting in a growing and aging population. Recent studies have shown that older people with CHD have higher morbidity, health care use, and mortality. To maintain longevity and quality of life, understanding their evolving medical and psychosocial challenges is essential.Objectives: The authors describe the frailty and cognitive profile of middle-aged and older adults with CHD to identify predictor variables and to explore the relationship with hospital admissions and outpatient visits.Methods: Using a cross-sectional, multicentric design, we included 814 patients aged ≥40 years from 11 countries. Frailty phenotype was determined using the Fried method. Cognitive function was assessed by the Montreal Cognitive Assessment.Results: In this sample, 52.3% of patients were assessed as robust, 41.9% as prefrail, and 5.8% as frail; 38.8% had cognitive dysfunction. Multinomial regression showed that frailty was associated with older age, female sex, higher physiologic class, and comorbidities. Counterintuitively, patients with mild heart defects were more likely than those with complex lesions to be prefrail. Patients from middle-income countries displayed more prefrailty than those from higher-income countries. Logistic regression demonstrated that cognitive dysfunction was related to older age, comorbidities, and lower country-level income.Conclusions: Approximately one-half of included patients were (pre-)frail, and more than one-third experienced cognitive impairment. Frailty and cognitive dysfunction were identified in patients with mild CHD, indicating that these concerns extend beyond severe CHD. Assessing frailty and cognition routinely could offer valuable insights into this aging population.
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19. |
- Diaz, Matias R., et al.
(author)
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TOI-132 b: A short-period planet in the Neptune desert transiting a V=11.3 G-type star
- 2020
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In: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 493:1, s. 973-985
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Journal article (peer-reviewed)abstract
- The Neptune desert is a feature seen in the radius-period plane, whereby a notable dearth of short period, Neptune-like planets is found. Here, we report the Transiting Exoplanet Survey Satellite (TESS) discovery of a new short-period planet in the Neptune desert, orbiting the G-type dwarf TYC 8003-1117-1 (TOI-132). TESS photometry shows transit-like dips at the level of similar to 1400 ppm occurring every similar to 2.11 d. High-precision radial velocity follow-up with High Accuracy Radial Velocity Planet Searcher confirmed the planetary nature of the transit signal and provided a semi-amplitude radial velocity variation of 11.38(-0.85)(+0.84) m s(-1), which, when combined with the stellar mass of 0.97 +/- 0.06 M-circle dot, provides a planetary mass of 22.40(-1.92)(+1.90) M-circle plus. Modelling the TESS light curve returns a planet radius of 3.42(-0.14)(+0.13) R-circle plus , and therefore the planet bulk density is found to be 3.08(-0.46)(+0.44) g cm(-3). Planet structure models suggest that the bulk of the planet mass is in the form of a rocky core, with an atmospheric mass fraction of 4.3(-2.3)(+1.2) percent. TOI-132 b is a TESS Level 1 Science Requirement candidate, and therefore priority follow-up will allow the search for additional planets in the system, whilst helping to constrain low-mass planet formation and evolution models, particularly valuable for better understanding of the Neptune desert.
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20. |
- Eckert, Diana
(author)
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Refixation of respiratory CO2 in leaves
- 2020
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Doctoral thesis (other academic/artistic)abstract
- Photosynthesis is a vital process for trees, one in which CO2 plays a major role. At the same time, the tree’s own metabolism produces CO2. For this PhD thesis, I investigated the fate of respiratory CO2 – is it all released back into the atmosphere or is it re-used in photosynthesis? The new LeafWeb-model uses gas exchange measurements of leaves to estimate the percentage of respiratory CO2 that is being refixed in photosynthesis (Pr). This thesis examined the effectson Pr of physiological, anatomical, and morphological traits; those of light availability and temperature; and Pr variations between species, functional groups or biomes. In addition, an experimental study explored the effect of drought on carbon allocation, which implied potential advantages of high Pr.I found that Pr is increased with high mesophyll resistance to CO2 diffusion (rm), high maximum carboxylation rate of Rubisco (Vcmax), and low stomatal conductance to CO2 diffusion (gs). This suggests that these physiological states slow CO2 diffusion out of the leaf (high rm and low gs) while increasing the draw on CO2 at the photosynthetic sites (high Vcmax). Thus, all three increase refixation probability. High leaf mass per area (LMA) and thick cell walls, traits known to correlate positively with rm, also increased refixation. The fact that both morphological and anatomical traits that are known to correlate with high rm also correlated with high Pr in my findings supports the assumption of the model regarding the relationship between Pr and rm. Furthermore, Pr increasing with rm is likely the reason Pr was highest in evergreen needle species and in the boreal biomes where this trait is prevalent. Species with high Pr might be less dependent on uptake of atmospheric CO2 and can close more of their stomata to conserve water. Models calculating terrestrial CO2-uptake should therefore consider including Pr, and assume that plants with high rm and high Vcmax refixate most of their (photo)respiratory-derived CO2.The thesis also includes a study that found that drought during early development of P.mariana shoots affected carbon partitioning and shoot morphology. The shoots allocated carbon away from structural components andtowards respiratory or osmoregulation processes. This might result in mature shoots with lower rm, which could reduce their Pr permanently. High Pr couldbe an advantage in conditions where stomata are closed; efficiently reusing(photo)respiratory CO2 during winter or mild drought could make it possible to maintain some photosynthesis even with very low gs. If this is true, new shoots with less efficient refixation might make the tree as a whole less resilient during future droughts. A possible implication is that while the higher Pr of boreal biomes and evergreen conifers may make them better able to tolerate future dry-periods, such periods may weaken this effect if they happen during shoot development.
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