1. |
- Hudson, Lawrence N, et al.
(author)
-
The database of the PREDICTS (Projecting Responses of Ecological Diversity In Changing Terrestrial Systems) project
- 2017
-
In: Ecology and Evolution. - : John Wiley & Sons. - 2045-7758. ; 7:1, s. 145-188
-
Journal article (peer-reviewed)abstract
- The PREDICTS project-Projecting Responses of Ecological Diversity In Changing Terrestrial Systems (www.predicts.org.uk)-has collated from published studies a large, reasonably representative database of comparable samples of biodiversity from multiple sites that differ in the nature or intensity of human impacts relating to land use. We have used this evidence base to develop global and regional statistical models of how local biodiversity responds to these measures. We describe and make freely available this 2016 release of the database, containing more than 3.2 million records sampled at over 26,000 locations and representing over 47,000 species. We outline how the database can help in answering a range of questions in ecology and conservation biology. To our knowledge, this is the largest and most geographically and taxonomically representative database of spatial comparisons of biodiversity that has been collated to date; it will be useful to researchers and international efforts wishing to model and understand the global status of biodiversity.
|
|
2. |
|
|
3. |
|
|
4. |
- Fresard, Laure, et al.
(author)
-
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- 2019
-
In: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
-
Journal article (peer-reviewed)abstract
- It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution.
|
|
5. |
- Bonamy, AKE, et al.
(author)
-
Wide variation in severe neonatal morbidity among very preterm infants in European regions
- 2019
-
In: Archives of disease in childhood. Fetal and neonatal edition. - : BMJ. - 1468-2052 .- 1359-2998. ; 104:1, s. F36-F45
-
Journal article (peer-reviewed)abstract
- To investigate the variation in severe neonatal morbidity among very preterm (VPT) infants across European regions and whether morbidity rates are higher in regions with low compared with high mortality rates.DesignArea-based cohort study of all births before 32 weeks of gestational age.Setting16 regions in 11 European countries in 2011/2012.PatientsSurvivors to discharge from neonatal care (n=6422).Main outcome measuresSevere neonatal morbidity was defined as intraventricular haemorrhage grades III and IV, cystic periventricular leukomalacia, surgical necrotizing enterocolitis and retinopathy of prematurity grades ≥3. A secondary outcome included severe bronchopulmonary dysplasia (BPD), data available in 14 regions. Common definitions for neonatal morbidities were established before data abstraction from medical records. Regional severe neonatal morbidity rates were correlated with regional in-hospital mortality rates for live births after adjustment on maternal and neonatal characteristics.Results10.6% of survivors had a severe neonatal morbidity without severe BPD (regional range 6.4%–23.5%) and 13.8% including severe BPD (regional range 10.0%–23.5%). Adjusted inhospital mortality was 13.7% (regional range 8.4%–18.8%). Differences between regions remained significant after consideration of maternal and neonatal characteristics (P<0.001) and severe neonatal morbidity rates were not correlated with mortality rates (P=0.50).ConclusionSevere neonatal morbidity rates for VPT survivors varied widely across European regions and were independent of mortality rates.
|
|
6. |
- Cuttini, M, et al.
(author)
-
Breastfeeding outcomes in European NICUs: impact of parental visiting policies
- 2019
-
In: Archives of disease in childhood. Fetal and neonatal edition. - : BMJ. - 1468-2052 .- 1359-2998. ; 104:2, s. F151-
-
Journal article (peer-reviewed)abstract
- The documented benefits of maternal milk for very preterm infants have raised interest in hospital policies that promote breastfeeding. We investigated the hypothesis that more liberal parental policies are associated with increased breastfeeding at discharge from the neonatal unit.DesignProspective area-based cohort study.SettingNeonatal intensive care units (NICUs) in 19 regions of 11 European countries.PatientsAll very preterm infants discharged alive in participating regions in 2011–2012 after spending >70% of their hospital stay in the same NICU (n=4407).Main outcome measuresWe assessed four feeding outcomes at hospital discharge: any and exclusive maternal milk feeding, independent of feeding method; any and exclusive direct breastfeeding, defined as sucking at the breast. We computed a neonatal unit Parental Presence Score (PPS) based on policies regarding parental visiting in the intensive care area (range 1–10, with higher values indicating more liberal policies), and we used multivariable multilevel modified Poisson regression analysis to assess the relation between unit PPS and outcomes.ResultsPolicies regarding visiting hours, duration of visits and possibility for parents to stay during medical rounds and spend the night in unit differed within and across countries. After adjustment for potential confounders, infants cared for in units with liberal parental policies (PPS≥7) were about twofold significantly more likely to be discharged with exclusive maternal milk feeding and exclusive direct breastfeeding.ConclusionUnit policies promoting parental presence and involvement in care may increase the likelihood of successful breastfeeding at discharge for very preterm infants.
|
|
7. |
|
|
8. |
- Lehtipalo, Katrianne, et al.
(author)
-
Multicomponent new particle formation from sulfuric acid, ammonia, and biogenic vapors
- 2018
-
In: Science Advances. - : American Association for the Advancement of Science (AAAS). - 2375-2548. ; 4:12
-
Journal article (peer-reviewed)abstract
- A major fraction of atmospheric aerosol particles, which affect both air quality and climate, form from gaseous precursors in the atmosphere. Highly oxygenated organic molecules (HOMs), formed by oxidation of biogenic volatile organic compounds, are known to participate in particle formation and growth. However, it is not well understood how they interact with atmospheric pollutants, such as nitrogen oxides (NOx) and sulfur oxides (SOx) from fossil fuel combustion, as well as ammonia (NH3) from livestock and fertilizers. Here, we show how NOx suppresses particle formation, while HOMs, sulfuric acid, and NH3 have a synergistic enhancing effect on particle formation. We postulate a novel mechanism, involving HOMs, sulfuric acid, and ammonia, which is able to closely reproduce observations of particle formation and growth in daytime boreal forest and similar environments. The findings elucidate the complex interactions between biogenic and anthropogenic vapors in the atmospheric aerosol system.
|
|
9. |
- Wagner, Robert, et al.
(author)
-
The role of ions in new particle formation in the CLOUD chamber
- 2017
-
In: Atmospheric Chemistry And Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 17:24, s. 15181-15197
-
Journal article (peer-reviewed)abstract
- The formation of secondary particles in the atmosphere accounts for more than half of global cloud condensation nuclei. Experiments at the CERN CLOUD (Cosmics Leaving OUtdoor Droplets) chamber have underlined the importance of ions for new particle formation, but quantifying their effect in the atmosphere remains challenging. By using a novel instrument setup consisting of two nanoparticle counters, one of them equipped with an ion filter, we were able to further investigate the ion-related mechanisms of new particle formation. In autumn 2015, we carried out experiments at CLOUD on four systems of different chemical compositions involving monoterpenes, sulfuric acid, nitrogen oxides, and ammonia. We measured the influence of ions on the nucleation rates under precisely controlled and atmospherically relevant conditions. Our results indicate that ions enhance the nucleation process when the charge is necessary to stabilize newly formed clusters, i.e., in conditions in which neutral clusters are unstable. For charged clusters that were formed by ion-induced nucleation, we were able to measure, for the first time, their progressive neutralization due to recombination with oppositely charged ions. A large fraction of the clusters carried a charge at 1.5 nm diameter. However, depending on particle growth rates and ion concentrations, charged clusters were largely neutralized by ion-ion recombination before they grew to 2.5 nm. At this size, more than 90% of particles were neutral. In other words, particles may originate from ion-induced nucleation, although they are neutral upon detection at diameters larger than 2.5 nm. Observations at Hyytiala, Finland, showed lower ion concentrations and a lower contribution of ion-induced nucleation than measured at CLOUD under similar conditions. Although this can be partly explained by the observation that ion-induced fractions decrease towards lower ion concentrations, further investigations are needed to resolve the origin of the discrepancy.
|
|
10. |
|
|
11. |
|
|
12. |
- Zeitlin, J, et al.
(author)
-
Authors' reply to Page and Rafi
- 2016
-
In: BMJ (Clinical research ed.). - : BMJ. - 1756-1833. ; 354, s. i4671-
-
Journal article (other academic/artistic)
|
|
13. |
|
|
14. |
|
|
15. |
|
|
16. |
|
|
17. |
|
|
18. |
- Tomaz, S. A., et al.
(author)
-
Gross motor skills of South African preschool-aged children across different income settings
- 2019
-
In: Journal of Science and Medicine in Sport. - : Elsevier. - 1440-2440 .- 1878-1861. ; 22:6, s. 689-694
-
Journal article (peer-reviewed)abstract
- Objectives: No studies have investigated gross motor skill (GMS) proficiency of preschool-aged children across different income settings in South Africa. Research from high-income countries suggests that children from low-income settings display poorer GMS proficiency compared to higher-income peers. This study aimed to (1) describe GMS proficiency of preschool-aged children in urban high-income (UH), urban low-income (UL) and rural low-income (RL) settings; and (2) explore differences in proficiency between income settings and sex.Design: Descriptive cross-sectional study.Methods: The Test of Gross Motor Development-Edition 2 (TGMD-2) was used to assess GMS. The TGMD-2 gross motor quotient, standardised scores and raw scores were used to describe proficiency.Results: GMS proficiency was assessed in n = 259 3-6-year-old children (n = 46 UH, n = 91 UL, n =122 RL). Overall, 93% of the children were classified as having 'average' or better GMS. According to TGMD-2 standardised scores, the RL children performed significantly better than UH and UL children (p = 0.028 and p= 0.009, respectively). RL children were significantly more proficient than UH and UL children in the strike and horizontal jump when comparing raw scores. Overall, boys performed significantly better than girls in the strike, stationary dribble, kick and leap when comparing raw scores (all p <0.001).Conclusions: This study reports high GMS proficiency in preschool-aged children across income settings in South Africa. The factors associated with higher GMS in low-income settings are not immediately obvious. Thus, future research should explore potential factors and identify opportunities to ensure that GMS proficiency is capitalised on as preschool-aged children enter formal schooling. (C) 2018 Sports Medicine Australia. Published by Elsevier Ltd. All rights reserved.
|
|
19. |
|
|