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1.
  • Blunden, Jessica, et al. (författare)
  • State of the Climate in 2012
  • 2013
  • Ingår i: Bulletin of The American Meteorological Society - (BAMS). - 0003-0007 .- 1520-0477. ; 94:8, s. S1-S258
  • Tidskriftsartikel (refereegranskat)abstract
    • For the first time in serveral years, the El Nino-Southern Oscillation did not dominate regional climate conditions around the globe. A weak La Ni a dissipated to ENSOneutral conditions by spring, and while El Nino appeared to be emerging during summer, this phase never fully developed as sea surface temperatures in the eastern conditions. Nevertheless, other large-scale climate patterns and extreme weather events impacted various regions during the year. A negative phase of the Arctic Oscillation from mid-January to early February contributed to frigid conditions in parts of northern Africa, eastern Europe, and western Asia. A lack of rain during the 2012 wet season led to the worst drought in at least the past three decades for northeastern Brazil. Central North America also experienced one of its most severe droughts on record. The Caribbean observed a very wet dry season and it was the Sahel's wettest rainy season in 50 years. Overall, the 2012 average temperature across global land and ocean surfaces ranked among the 10 warmest years on record. The global land surface temperature alone was also among the 10 warmest on record. In the upper atmosphere, the average stratospheric temperature was record or near-record cold, depending on the dataset. After a 30-year warming trend from 1970 to 1999 for global sea surface temperatures, the period 2000-12 had little further trend. This may be linked to the prevalence of La Ni a-like conditions during the 21st century. Heat content in the upper 700 m of the ocean remained near record high levels in 2012. Net increases from 2011 to 2012 were observed at 700-m to 2000-m depth and even in the abyssal ocean below. Following sharp decreases in to the effects of La Ni a, sea levels rebounded to reach records highs in 2012. The increased hydrological cycle seen in recent years continued, with more evaporation in drier locations and more precipitation in rainy areas. In a pattern that has held since 2004, salty areas of the ocean surfaces and subsurfaces were anomalously salty on average, while fresher areas were anomalously fresh. Global tropical cyclone activity during 2012 was near average, with a total of 84 storms compared with the 1981-2010 average of 89. Similar to 2010 and 2011, the North Atlantic was the only hurricane basin that experienced above-normal activity. In this basin, Sandy brought devastation to Cuba and parts of the eastern North American seaboard. All other basins experienced either near-or below-normal tropical cyclone activity. Only three tropical cyclones reached Category 5 intensity-all in Bopha became the only storm in the historical record to produce winds greater than 130 kt south of 7 N. It was also the costliest storm to affect the Philippines and killed more than 1000 residents. Minimum Arctic sea ice extent in September and Northern Hemisphere snow cover extent in June both reached new record lows. June snow cover extent is now declining at a faster rate (-17.6% per decade) than September sea ice extent (-13.0% per decade). Permafrost temperatures reached record high values in northernmost Alaska. A new melt extent record occurred on 11-12 July on the Greenland ice sheet; 97% of the ice sheet showed some form of melt, four times greater than the average melt for this time of year. The climate in Antarctica was relatively stable overall. The largest maximum sea ice extent since records begain in 1978 was observed in September 2012. In the stratosphere, warm air led to the second smallest ozone hole in the past two decades. Even so, the springtime ozone layer above Antarctica likely will not return to its early 1980s state until about 2060. Following a slight decline associated with the global 2 emissions from fossil fuel combustion and cement production reached a record 9.5 +/- 0.5 Pg C in 2011 and a new record of 9.7 +/- 0.5 Pg C is estimated for 2012. Atmospheric CO2 concentrations increased by 2.1 ppm in 2012, to 392.6 ppm. In spring 2012, 2 concentration exceeded 400 ppm at 7 of the 13 Arctic observation sites. Globally, other greenhouse gases including methane and nitrous oxide also continued to rise in concentration and the combined effect now represents a 32% increase in radiative forcing over a 1990 baseline. Concentrations of most ozone depleting substances continued to fall.
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2.
  • Brown, Nick, et al. (författare)
  • Age of consent?
  • 2020
  • Ingår i: Archives of Disease in Childhood. - : BMJ. - 0003-9888 .- 1468-2044. ; 105:1
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
    • The recent thought-provoking piece by Neena Modi, ‘Votes for a better future’1 argued the case for entrusting parents with an additional vote for each of their children. Though this, rather exhilarating, idea might take time in gestation, it takes no more than a simple extrapolation of the central hypothesis to infer that the natural first step in the process has to be a change in the current law around voting age.
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3.
  • Craddock, Nick, et al. (författare)
  • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
  • 2010
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 713-720
  • Tidskriftsartikel (refereegranskat)abstract
    • Copy number variants (CNVs) account for a major proportion of human genetic polymorphism and have been predicted to have an important role in genetic susceptibility to common disease. To address this we undertook a large, direct genome-wide study of association between CNVs and eight common human diseases. Using a purpose-designed array we typed,19,000 individuals into distinct copy-number classes at 3,432 polymorphic CNVs, including an estimated similar to 50% of all common CNVs larger than 500 base pairs. We identified several biological artefacts that lead to false-positive associations, including systematic CNV differences between DNAs derived from blood and cell lines. Association testing and follow-up replication analyses confirmed three loci where CNVs were associated with disease-IRGM for Crohn's disease, HLA for Crohn's disease, rheumatoid arthritis and type 1 diabetes, and TSPAN8 for type 2 diabetes-although in each case the locus had previously been identified in single nucleotide polymorphism (SNP)-based studies, reflecting our observation that most common CNVs that are well-typed on our array are well tagged by SNPs and so have been indirectly explored through SNP studies. We conclude that common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases.
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4.
  • Moayyeri, Alireza, et al. (författare)
  • Genetic determinants of heel bone properties : genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium
  • 2014
  • Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:11, s. 3054-3068
  • Tidskriftsartikel (refereegranskat)abstract
    • Quantitative ultrasound of the heel captures heel bone properties that independently predict fracture risk and, with bone mineral density (BMD) assessed by X-ray (DXA), may be convenient alternatives for evaluating osteoporosis and fracture risk. We performed a meta-analysis of genome-wide association (GWA) studies to assess the genetic determinants of heel broadband ultrasound attenuation (BUA; n = 14 260), velocity of sound (VOS; n = 15 514) and BMD (n = 4566) in 13 discovery cohorts. Independent replication involved seven cohorts with GWA data (in silico n = 11 452) and new genotyping in 15 cohorts (de novo n = 24 902). In combined random effects, meta-analysis of the discovery and replication cohorts, nine single nucleotide polymorphisms (SNPs) had genome-wide significant (P < 5 x 10(-8)) associations with heel bone properties. Alongside SNPs within or near previously identified osteoporosis susceptibility genes including ESR1 (6q25.1: rs4869739, rs3020331, rs2982552), SPTBN1 (2p16.2: rs11898505), RSPO3 (6q22.33: rs7741021), WNT16 (7q31.31: rs2908007), DKK1 (10q21.1: rs7902708) and GPATCH1 (19q13.11: rs10416265), we identified a new locus on chromosome 11q14.2 (rs597319 close to TMEM135, a gene recently linked to osteoblastogenesis and longevity) significantly associated with both BUA and VOS (P < 8.23 x 10(-14)). In meta-analyses involving 25 cohorts with up to 14 985 fracture cases, six of 10 SNPs associated with heel bone properties at P < 5 x 10(-6) also had the expected direction of association with any fracture (P < 0.05), including three SNPs with P < 0.005: 6q22.33 (rs7741021), 7q31.31 (rs2908007) and 10q21.1 (rs7902708). In conclusion, this GWA study reveals the effect of several genes common to central DXA-derived BMD and heel ultrasound/DXA measures and points to a new genetic locus with potential implications for better understanding of osteoporosis pathophysiology.
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5.
  • Patterson, Nick, et al. (författare)
  • Large-scale migration into Britain during the Middle to Late Bronze Age
  • 2022
  • Ingår i: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; , s. 588-594
  • Tidskriftsartikel (refereegranskat)abstract
    • Present-day people from England and Wales harbour more ancestry derived from Early European Farmers (EEF) than people of the Early Bronze Age1. To understand this, we generated genome-wide data from 793 individuals, increasing data from the Middle to Late Bronze and Iron Age in Britain by 12-fold, and Western and Central Europe by 3.5-fold. Between 1000 and 875 BC, EEF ancestry increased in southern Britain (England and Wales) but not northern Britain (Scotland) due to incorporation of migrants who arrived at this time and over previous centuries, and who were genetically most similar to ancient individuals from France. These migrants contributed about half the ancestry of Iron Age people of England and Wales, thereby creating a plausible vector for the spread of early Celtic languages into Britain. These patterns are part of a broader trend of EEF ancestry becoming more similar across central and western Europe in the Middle to Late Bronze Age, coincident with archaeological evidence of intensified cultural exchange2-6. There was comparatively less gene flow from continental Europe during the Iron Age, and Britain's independent genetic trajectory is also reflected in the rise of the allele conferring lactase persistence to ~50% by this time compared to ~7% in central Europe where it rose rapidly in frequency only a millennium later. This suggests that dairy products were used in qualitatively different ways in Britain and in central Europe over this period.
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6.
  • 2019
  • Tidskriftsartikel (refereegranskat)
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7.
  • Ade, Peter, et al. (författare)
  • The Simons Observatory : science goals and forecasts
  • 2019
  • Ingår i: Journal of Cosmology and Astroparticle Physics. - : IOP Publishing. - 1475-7516. ; :2
  • Tidskriftsartikel (refereegranskat)abstract
    • The Simons Observatory (SO) is a new cosmic microwave background experiment being built on Cerro Toco in Chile, due to begin observations in the early 2020s. We describe the scientific goals of the experiment, motivate the design, and forecast its performance. SO will measure the temperature and polarization anisotropy of the cosmic microwave background in six frequency bands centered at: 27, 39, 93, 145, 225 and 280 GHz. The initial con figuration of SO will have three small-aperture 0.5-m telescopes and one large-aperture 6-m telescope, with a total of 60,000 cryogenic bolometers. Our key science goals are to characterize the primordial perturbations, measure the number of relativistic species and the mass of neutrinos, test for deviations from a cosmological constant, improve our understanding of galaxy evolution, and constrain the duration of reionization. The small aperture telescopes will target the largest angular scales observable from Chile, mapping approximate to 10% of the sky to a white noise level of 2 mu K-arcmin in combined 93 and 145 GHz bands, to measure the primordial tensor-to-scalar ratio, r, at a target level of sigma(r) = 0.003. The large aperture telescope will map approximate to 40% of the sky at arcminute angular resolution to an expected white noise level of 6 mu K-arcmin in combined 93 and 145 GHz bands, overlapping with the majority of the Large Synoptic Survey Telescope sky region and partially with the Dark Energy Spectroscopic Instrument. With up to an order of magnitude lower polarization noise than maps from the Planck satellite, the high-resolution sky maps will constrain cosmological parameters derived from the damping tail, gravitational lensing of the microwave background, the primordial bispectrum, and the thermal and kinematic Sunyaev-Zel'dovich effects, and will aid in delensing the large-angle polarization signal to measure the tensor-to-scalar ratio. The survey will also provide a legacy catalog of 16,000 galaxy clusters and more than 20,000 extragalactic sources.
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8.
  • Birney, Ewan, et al. (författare)
  • Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
  • 2007
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 447:7146, s. 799-816
  • Tidskriftsartikel (refereegranskat)abstract
    • We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary and computational analyses. Together, our results advance the collective knowledge about human genome function in several major areas. First, our studies provide convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts, including non-protein-coding transcripts, and those that extensively overlap one another. Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. Third, a more sophisticated view of chromatin structure has emerged, including its inter-relationship with DNA replication and transcriptional regulation. Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded new mechanistic and evolutionary insights concerning the functional landscape of the human genome. Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function.
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9.
  • Brown, Nick (författare)
  • Atoms
  • 2023
  • Ingår i: Archives of Disease in Childhood. - : BMJ Publishing Group Ltd. - 0003-9888 .- 1468-2044. ; 108:8
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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10.
  • Brown, Nick (författare)
  • Atoms
  • 2023
  • Ingår i: Archives of Disease in Childhood. - : BMJ Publishing Group Ltd. - 0003-9888 .- 1468-2044. ; 108:7
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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11.
  • Brown, Nick (författare)
  • Atoms
  • 2023
  • Ingår i: Archives of Disease in Childhood. - : BMJ Publishing Group Ltd. - 0003-9888 .- 1468-2044. ; 108:6
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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12.
  • Brown, Nick (författare)
  • Atoms
  • 2023
  • Ingår i: Archives of Disease in Childhood. - : BMJ Publishing Group Ltd. - 0003-9888 .- 1468-2044. ; 108:12
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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13.
  • Brown, Nick (författare)
  • Atoms
  • 2024
  • Ingår i: Archives of Disease in Childhood. - : BMJ Publishing Group Ltd. - 0003-9888 .- 1468-2044. ; 109:1, s. i-i
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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14.
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15.
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16.
  • Brown, Nick, et al. (författare)
  • Efficacy of zinc as adjunctive pneumonia treatment in children aged 2 to 60 months in low-income and middle-income countries : a systematic review and meta-analysis
  • 2020
  • Ingår i: BMJ Paediatrics Open. - : BMJ. - 2399-9772. ; 4:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Despite advances in vaccination and case management, pneumonia remains the single largest contributor to early child mortality worldwide. Zinc has immune-enhancing properties, but its role in adjunctive treatment of pneumonia in low-income and middle-income countries (LMICs) is controversial and research still active.Methods: Systematic review and meta-analysis of randomised controlled trials of zinc and placebo in pneumonia in children aged 2 to 60 months in LMICs. Databases included MEDLINE, the Cochrane Library, EMBASE, LILACS, SciELO, the WHO portal, Scopus, Google Scholar and ClinicalTrials.gov. Inclusion criteria included accepted signs of pneumonia and clear measure of outcome. Risk of bias was independently assessed by two authors. ORs with 95% CI were used for calculating the pooled estimate of dichotomous outcomes including treatment failure and mortality. Time to recovery was expressed as HRs. Sensitivity analyses considering risk of bias and subgroup analyses for pneumonia severity were performed.Results: We identified 11 trials published between 2004 and 2019 fulfilling the a priori defined criteria, 7 from South Asia and 3 from Africa and 1 from South America. Proportional treatment failure was comparable in both zinc and placebo groups when analysed for all patients (OR 0.95 (95% CI 0.80 to 1.14)) and only for those with severe pneumonia (OR 0.93 (95% CI 0.75 to 1.14)). No difference was seen in mortality between zinc and placebo groups (OR 0.64 (95% CI 0.31 to 1.31)). Time to recovery from severe pneumonia did not differ between the treatment and control groups for patients with severe pneumonia (HR 1.01 (95% CI 0.89 to 1.14)). Removal of four studies with high risk of bias made no difference to the conclusions.Conclusion: There is no evidence that adjunctive zinc treatment improves recovery from pneumonia in children in LMICs.Trial registration number: CRD42019141602.
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17.
  • Brown, Nick (författare)
  • Highlights from this issue
  • 2020
  • Ingår i: Archives of Disease in Childhood. - : BMJ. - 0003-9888 .- 1468-2044. ; 105:4, s. I-I
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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18.
  • Brown, Nick, et al. (författare)
  • Recurrence of WHO-defined fast breathing pneumonia among infants, its occurrence and predictors in Pakistan : a nested case-control analysis
  • 2020
  • Ingår i: BMJ Open. - : BMJ PUBLISHING GROUP. - 2044-6055. ; 10:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Objectives Studies in low-income and middle-income countries have shown an adverse association between environmental exposures including poverty. There is little literature from South Asia. We aimed to test the associations between housing, indoor air pollution and children's respiratory health and recurrent fast breathing pneumonia in a poor urban setting in Pakistan. Setting Primary health centres in a periurban slum in Karachi, Pakistan. Methods Nested matched case-control study within a non-inferiority randomised controlled trial of fast breathing pneumonia (Randomised Trial of Amoxicillin vs Placebo for Pneumonia (RETAPP)) in periurban slums of Karachi, Pakistan. Cases were children aged 2-60 months enrolled in RETAPP with fast breathing pneumonia who presented again with fast breathing between 8 weeks and 12 months after full recovery. Controls, selected in a 2:1 ratio, were age-matched participants who did not represent. Multivariable conditional logistic regression analysis was undertaken to explore associations with potentially modifiable environmental predictors including housing type, indoor air quality, exposure to tobacco smoke, outdoor pollution, household crowding, water and sanitation quality, nutritional status, immunisation completeness, breast feeding and airways hyperactivity. Results Fast breathing recurred in 151 (3.7%) of children out of the total (4003) enrolled in the trial. Poor-quality housing of either katcha or mixed type strongly predicted recurrence with adjusted matched ORs 2.43 (95% CI 1.02 to 5.80) and 2.44 (1.11 to 5.38), respectively. Poor air quality, cooking fuel, inadequate ventilation, nutritional status, water, sanitation and hygiene (WASH) index, wheeze at first presentation and group of initial trial assignment were not independently predictive of recurrence. Conclusion Poor-quality housing independently predicted recurrence of fast breathing pneumonia.
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19.
  • Brown, Nick (författare)
  • ROUND THE BLOC(K), AGAIN
  • 2023
  • Ingår i: Archives of Disease in Childhood. - : BMJ. - 0003-9888 .- 1468-2044. ; 108:10
  • Tidskriftsartikel (refereegranskat)
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20.
  • Brown, Nick (författare)
  • The Atoms
  • 2024
  • Ingår i: Archives of Disease in Childhood. - : BMJ Publishing Group Ltd. - 0003-9888 .- 1468-2044. ; 109:4, s. 0i-0i
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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21.
  • Brown, Nick (författare)
  • The Atoms
  • 2024
  • Ingår i: Archives of Disease in Childhood. - : BMJ Publishing Group Ltd. - 0003-9888 .- 1468-2044. ; 109:3, s. 0i-0i
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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22.
  • Brown, Nick (författare)
  • The Atoms
  • 2024
  • Ingår i: Archives of Disease in Childhood. - : BMJ Publishing Group Ltd. - 0003-9888 .- 1468-2044. ; 109:5, s. 0i-0i
  • Tidskriftsartikel (refereegranskat)
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23.
  • Brown, Nick (författare)
  • The Atoms
  • 2024
  • Ingår i: Archives of Disease in Childhood. - : BMJ Publishing Group Ltd. - 0003-9888 .- 1468-2044. ; 109:2, s. i-i
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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24.
  • Brown, Nick, 1961- (författare)
  • Unresolved Controversies in Child Pneumonia in low and middle income Countries
  • 2021
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • There has been a fall globally in pneumonia-related fatality in children during the Millennium Development and early Sustainable Development Goal era.However, pneumonia remains the single largest contributor to mortality with issues including antibiotic resistance, pollution, a change in infective epidemiology, equipoise over effects of adjunctive treatments and identification of sick, decompensating children. This thesis examines 4 of these controversies as original research.Theme 1; two papers, 1 and 2: The first discusses the background motivation. The second a large randomized, non-inferiority controlled trial undertaken (‘RETAPP’) in a suburban slum area of Karachi, Pakistan. Oral amoxicillin treatment was compared with placebo, in the treatment of WHO-defined, uncomplicated, fast breathing pneumonia.Theme 2 (paper 3) The role of indoor air pollution and poverty in recurrent fast breathing pneumonia: a nested case control study.Theme 3 (paper 4). The role of adjunctive use of zinc to standard treatment in children with severe pneumonia: a systematic review and meta-analysis of randomised controlled trials.Theme 4 (paper 5). Recognition of the child with severe respiratory illness using the Clinical Respiratory Score in the emergency department Results: In the RETAPP study, 4,002 randomised children were enrolled. There was a significant difference in treatment failure rates in the amoxicillin and placebo groups (2.6 % vs 4.9 %). The number needed to treat was high at 44, and mortality very low and similar in both groups, discussion points for policy makers.There does not appear to be an enhanced risk with Indoor Air Pollution in recurrence of pneumonia. The only predictor was household poverty: external pollution could be a factor.Adjunctive zinc confers no additional advantage to children with severe pneumonia.The clinical respiratory score is a highly sensitive, but non-specific marker for severe illness.Conclusions: The small, though significant, differences in treatment failure rates in fast breathing pneumonia are likely to have implications for setting of management.The role of environmental predictors needs to turn to poverty and external pollution.Zinc has no role as an adjunctive treatment. The clinical respiratory score has excellent predictive value for severe illness.
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25.
  • Brown, Nick, et al. (författare)
  • Utilising urgent computing to tackle the spread of mosquito-borne diseases
  • 2021
  • Ingår i: Proceedings of Urgenthpc 2021. - : Institute of Electrical and Electronics Engineers (IEEE). ; , s. 36-44
  • Konferensbidrag (refereegranskat)abstract
    • It is estimated that around 80% of the world's population live in areas susceptible to at-least one major vector borne disease, and approximately 20% of global communicable diseases are spread by mosquitoes. Furthermore, the outbreaks of such diseases are becoming more common and widespread, with much of this driven in recent years by socio-demographic and climatic factors. These trends are causing significant worry to global health organisations, including the CDC and WHO, and-so an important question is the role that technology can play in addressing them. In this work we describe the integration of an epidemiology model, which simulates the spread of mosquito-borne diseases, with the VESTEC urgent computing ecosystem. The intention of this work is to empower human health professionals to exploit this model and more easily explore the progression of mosquito-borne diseases. Traditionally in the domain of the few research scientists, by leveraging state of the art visualisation and analytics techniques, all supported by running the computational workloads on HPC machines in a seamless fashion, we demonstrate the significant advantages that such an integration can provide. Furthermore we demonstrate the benefits of using an ecosystem such as VESTEC, which provides a framework for urgent computing, in supporting the easy adoption of these technologies by the epidemiologists and disaster response professionals more widely.
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26.
  • Brown, Nick, et al. (författare)
  • Workflows to Driving High-Performance Interactive Supercomputing for Urgent Decision Making
  • 2022
  • Ingår i: High Performance Computing, Isc High Performance 2022 International Workshops. - Cham : Springer Nature. ; , s. 233-244
  • Konferensbidrag (refereegranskat)abstract
    • Interactive urgent computing is a small but growing user of supercomputing resources. However there are numerous technical challenges that must be overcome to make supercomputers fully suited to the wide range of urgent workloads which could benefit from the computational power delivered by such instruments. An important question is how to connect the different components of an urgent workload; namely the users, the simulation codes, and external data sources, together in a structured and accessible manner. In this paper we explore the role of workflows from both the perspective of marshalling and control of urgent workloads, and at the individual HPC machine level. Ultimately requiring two workflow systems, by using a space weather prediction urgent use-cases, we explore the benefit that these two workflow systems provide especially when one exploits the flexibility enabled by them interoperating.
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27.
  • Büntgen, Ulf, et al. (författare)
  • Global wood anatomical perspective on the onset of the Late Antique Little Ice Age (LALIA) in the mid-6th century CE
  • 2022
  • Ingår i: Science Bulletin. - : Elsevier BV. - 2095-9273. ; 67:22, s. 2336-2344
  • Tidskriftsartikel (refereegranskat)abstract
    • Linked to major volcanic eruptions around 536 and 540 CE, the onset of the Late Antique Little Ice Age has been described as the coldest period of the past two millennia. The exact timing and spatial extent of this exceptional cold phase are, however, still under debate because of the limited resolution and geographical distribution of the available proxy archives. Here, we use 106 wood anatomical thin sections from 23 forest sites and 20 tree species in both hemispheres to search for cell-level fingerprints of ephemeral summer cooling between 530 and 550 CE. After cross-dating and double-staining, we identified 89 Blue Rings (lack of cell wall lignification), nine Frost Rings (cell deformation and collapse), and 93 Light Rings (reduced cell wall thickening) in the Northern Hemisphere. Our network reveals evidence for the strongest temperature depression between mid-July and early-August 536 CE across North America and Eurasia, whereas more localised cold spells occurred in the summers of 532, 540–43, and 548 CE. The lack of anatomical signatures in the austral trees suggests limited incursion of stratospheric volcanic aerosol into the Southern Hemisphere extra-tropics, that any forcing was mitigated by atmosphere-ocean dynamical responses and/or concentrated outside the growing season, or a combination of factors. Our findings demonstrate the advantage of wood anatomical investigations over traditional dendrochronological measurements, provide a benchmark for Earth system models, support cross-disciplinary studies into the entanglements of climate and history, and question the relevance of global climate averages.
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28.
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29.
  • Di Gravio, Chiara, et al. (författare)
  • The Association of Maternal Age With Fetal Growth and Newborn Measures : The Mumbai Maternal Nutrition Project (MMNP)
  • 2019
  • Ingår i: Reproductive Sciences. - : SAGE PUBLICATIONS INC. - 1933-7191 .- 1933-7205. ; 26:7, s. 918-927
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Young maternal age is associated with poorer birth outcomes, but the mechanisms are incompletely understood. Using data from a prospective cohort of pregnant women living in Mumbai slums, India, we tested whether lower maternal age was associated with adverse fetal growth.Methods: Fetal crown-rump length (CRL) was recorded at a median (interquartile range, IQR) of 10 weeks' gestation (9-10 weeks). Head circumference (HC), biparietal diameter (BPD), femur length (FL), and abdominal circumference (AC) were recorded at 19 (19-20) and 29 (28-30) weeks. Newborns were measured at a median (IQR) of 2 days (1-3 days) from delivery. Gestation was assessed using prospectively collected menstrual period dates.Results: The sample comprised 1653 singleton fetuses without major congenital abnormalities, of whom 1360 had newborn measurements. Fetuses of younger mothers had smaller CRL (0.01 standard deviation [SD] per year of maternal age; 95% confidence interval CI: 0.00-0.02(1); P = .04), and smaller HC, FL, and AC at subsequent visits. Fetal growth of HC (0.04 cm; 95% CI: 0.02-0.05; P < .001), BPD (0.01 cm; 95% CI: 0.00-0.01; P = .009), FL (0.04 cm; 95% CI: 0.02-0.06; P < .001), and AC (0.01 cm; 95% CI: 0.00-0.01; P = .003) up to the third trimester increased with maternal age. Skinfolds, head, and mid-upper arm circumferences were smaller in newborns of younger mothers. Adjusting for maternal prepregnancy socioeconomic status, body mass index, height, and parity attenuated the associations between maternal age and newborn size but did not change those with fetal biometry.Conclusion: Fetuses of younger mothers were smaller from the first trimester onward and grew slower, independently of known confounding factors.
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30.
  • Drake, Thomas M., et al. (författare)
  • Outcomes following small bowel obstruction due to malignancy in the national audit of small bowel obstruction
  • 2019
  • Ingår i: European Journal of Surgical Oncology. - : Elsevier BV. - 0748-7983 .- 1532-2157. ; 45:12, s. 2319-2324
  • Tidskriftsartikel (refereegranskat)abstract
    • © 2019 Elsevier Ltd, BASO ~ The Association for Cancer Surgery, and the European Society of Surgical Oncology Introduction: Patients with cancer who develop small bowel obstruction are at high risk of malnutrition and morbidity following compromise of gastrointestinal tract continuity. This study aimed to characterise current management and outcomes following malignant small bowel obstruction. Methods: A prospective, multicentre cohort study of patients with small bowel obstruction who presented to UK hospitals between 16th January and 13th March 2017. Patients who presented with small bowel obstruction due to primary tumours of the intestine (excluding left-sided colonic tumours) or disseminated intra-abdominal malignancy were included. Outcomes included 30-day mortality and in-hospital complications. Cox-proportional hazards models were used to generate adjusted effects estimates, which are presented as hazard ratios (HR) alongside the corresponding 95% confidence interval (95% CI). The threshold for statistical significance was set at the level of P ≤ 0.05 a-priori. Results: 205 patients with malignant small bowel obstruction presented to emergency surgery services during the study period. Of these patients, 50 had obstruction due to right sided colon cancer, 143 due to disseminated intraabdominal malignancy, 10 had primary tumours of the small bowel and 2 patients had gastrointestinal stromal tumours. In total 100 out of 205 patients underwent a surgical intervention for obstruction. 30-day in-hospital mortality rate was 11.3% for those with primary tumours and 19.6% for those with disseminated malignancy. Severe risk of malnutrition was an independent predictor for poor mortality in this cohort (adjusted HR 16.18, 95% CI 1.86 to 140.84, p = 0.012). Patients with right-sided colon cancer had high rates of morbidity. Conclusions: Mortality rates were high in patients with disseminated malignancy and in those with right sided colon cancer. Further research should identify optimal management strategy to reduce morbidity for these patient groups.
  •  
31.
  • Drogan, Dagmar, et al. (författare)
  • Untargeted Metabolic Profiling Identifies Altered Serum Metabolites of Type 2 Diabetes Mellitus in a Prospective, Nested Case Control Study
  • 2015
  • Ingår i: Clinical Chemistry. - : Oxford University Press (OUP). - 0009-9147 .- 1530-8561. ; 61:3, s. 487-497
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND:Application of metabolite profiling could expand the etiological knowledge of type 2 diabetes mellitus (T2D). However, few prospective studies apply broad untargeted metabolite profiling to reveal the comprehensive metabolic alterations preceding the onset of T2D. METHODS: We applied untargeted metabolite profiling in serum samples obtained from the European Prospective Investigation into Cancer and Nutrition (EPIC)-Potsdam cohort comprising 300 individuals who developed T2D after a median follow-up time of 6 years and 300 matched controls. For that purpose, we used ultraperformance LC-MS with a protocol specifically designed for large-scale metabolomics studies with regard to robustness and repeatability. After multivariate classification to select metabolites with the strongest contribution to disease classification, we applied multivariable-adjusted conditional logistic regression to assess the association of these metabolites with T2D.RESULTS: Among several alterations in lipid metabolism, there was an inverse association with T2D for metabolites chemically annotated as lysophosphatidylcholine(dm16:0) and phosphatidylcholine(O-20:0/O-20:0). Hexose sugars were positively associated with T2D, whereas higher concentrations of a sugar alcohol and a deoxyhexose sugar reduced the odds of diabetes by approximately 60% and 70%, respectively. Furthermore, there was suggestive evidence for a positive association of the circulating purine nucleotide isopentenyladenosine-5' -monophosphate with incident T2D.CONCLUSIONS: This study constitutes one of the largest metabolite profiling approaches of T2D biomarkers in a prospective study population. The findings might help generate new hypotheses about diabetes etiology and develop further targeted studies of a smaller number of potentially important metabolites. (C) 2014 American Association for Clinical Chemistry
  •  
32.
  • Escott-Price, Valentina, et al. (författare)
  • Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease
  • 2014
  • Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 9:6, s. e94661-
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. Principal Findings: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4x10(-6)) and 14 (IGHV1-67 p = 7.9x10(-8)) which indexed novel susceptibility loci. Significance: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.
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33.
  • Estrada, Karol, et al. (författare)
  • Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
  • 2012
  • Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:5, s. 491-501
  • Tidskriftsartikel (refereegranskat)abstract
    • Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects and for association with risk of low-trauma fracture in 31,016 individuals with a history of fracture (cases) and 102,444 controls. We identified 56 loci (32 new) associated with BMD at genome-wide significance (P < 5 × 10(-8)). Several of these factors cluster within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. However, we also discovered loci that were localized to genes not known to have a role in bone biology. Fourteen BMD-associated loci were also associated with fracture risk (P < 5 × 10(-4), Bonferroni corrected), of which six reached P < 5 × 10(-8), including at 18p11.21 (FAM210A), 7q21.3 (SLC25A13), 11q13.2 (LRP5), 4q22.1 (MEPE), 2p16.2 (SPTBN1) and 10q21.1 (DKK1). These findings shed light on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility.
  •  
34.
  • Evangelou, Evangelos, et al. (författare)
  • Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
  • 2018
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 50:10, s. 1412-1425
  • Tidskriftsartikel (refereegranskat)abstract
    • High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation but also highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future.
  •  
35.
  • Ferrari, Raffaele, et al. (författare)
  • Frontotemporal dementia and its subtypes: a genome-wide association study.
  • 2014
  • Ingår i: Lancet Neurology. - 1474-4465. ; 13:7, s. 686-699
  • Tidskriftsartikel (refereegranskat)abstract
    • Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72-have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder.
  •  
36.
  • Haak, Wolfgang, et al. (författare)
  • Massive migration from the steppe was a source for Indo-European languages in Europe
  • 2015
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 522:7555, s. 207-
  • Tidskriftsartikel (refereegranskat)abstract
    • We generated genome-wide data from 69 Europeans who lived between 8,000-3,000 years ago by enriching ancient DNA libraries for a target set of almost 400,000 polymorphisms. Enrichment of these positions decreases the sequencing required for genome-wide ancient DNA analysis by a median of around 250-fold, allowing us to study an order of magnitude more individuals than previous studies(1-8) and to obtain new insights about the past. We show that the populations of Western and Far Eastern Europe followed opposite trajectories between 8,000-5,000 years ago. At the beginning of the Neolithic period in Europe, similar to 8,000-7,000 years ago, closely related groups of early farmers appeared in Germany, Hungary and Spain, different from indigenous hunter-gatherers, whereas Russia was inhabited by a distinctive population of hunter-gatherers with high affinity to a similar to 24,000-year-old Siberian(6). By similar to 6,000-5,000 years ago, farmers throughout much of Europe had more hunter-gatherer ancestry than their predecessors, but in Russia, the Yamnaya steppe herders of this time were descended not only from the preceding eastern European hunter-gatherers, but also from a population of Near Eastern ancestry. Western and Eastern Europe came into contact similar to 4,500 years ago, as the Late Neolithic Corded Ware people from Germany traced similar to 75% of their ancestry to the Yamnaya, documenting a massive migration into the heartland of Europe from its eastern periphery. This steppe ancestry persisted in all sampled central Europeans until at least similar to 3,000 years ago, and is ubiquitous in present-day Europeans. These results provide support for a steppe origin(9) of at least some of the Indo-European languages of Europe.
  •  
37.
  • Horgan, Briony, et al. (författare)
  • Mineralogy, Morphology, and Emplacement History of the Maaz Formation on the Jezero Crater Floor From Orbital and Rover Observations
  • 2023
  • Ingår i: Journal of Geophysical Research: Planets. - 2169-9097. ; 128:8
  • Tidskriftsartikel (refereegranskat)abstract
    • The first samples collected by the Perseverance rover on the Mars 2020 mission were from the Maaz formation, a lava plain that covers most of the floor of Jezero crater. Laboratory analysis of these samples back on Earth would provide important constraints on the petrologic history, aqueous processes, and timing of key events in Jezero crater. However, interpreting these samples requires a detailed understanding of the emplacement and modification history of the Maaz formation. Here we synthesize rover and orbital remote sensing data to link outcrop-scale interpretations to the broader history of the crater, including Mastcam-Z mosaics and multispectral images, SuperCam chemistry and reflectance point spectra, Radar Imager for Mars' subsurface eXperiment ground penetrating radar, and orbital hyperspectral reflectance and high-resolution images. We show that the Maaz formation is composed of a series of distinct members corresponding to basaltic to basaltic-andesite lava flows. The members exhibit variable spectral signatures dominated by high-Ca pyroxene, Fe-bearing feldspar, and hematite, which can be tied directly to igneous grains and altered matrix in abrasion patches. Spectral variations correlate with morphological variations, from recessive layers that produce a regolith lag in lower Maaz, to weathered polygonally fractured paleosurfaces and crater-retaining massive blocky hummocks in upper Maaz. The Maaz members were likely separated by one or more extended periods of time, and were subjected to variable erosion, burial, exhumation, weathering, and tectonic modification. The two unique samples from the Maaz formation are representative of this diversity, and together will provide an important geochronological framework for the history of Jezero crater.
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38.
  • Jehan, Fyezah, et al. (författare)
  • Randomized Trial of Amoxicillin for Pneumonia in Pakistan
  • 2020
  • Ingår i: New England Journal of Medicine. - : MASSACHUSETTS MEDICAL SOC. - 0028-4793 .- 1533-4406. ; 383:1, s. 24-34
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND The World Health Organization (WHO) recommends oral amoxicillin for patients who have pneumonia with tachypnea, yet trial data indicate that not using amoxicillin to treat this condition may be noninferior to using amoxicillin. METHODS We conducted a double-blind, randomized, placebo-controlled noninferiority trial involving children at primary health care centers in low-income communities in Karachi, Pakistan. Children who were 2 to 59 months of age and who met WHO criteria for nonsevere pneumonia with tachypnea were randomly assigned to a 3-day course of a suspension of amoxicillin (the active control) of 50 mg per milliliter or matched volume of placebo (the test regimen), according to WHO weight bands (500 mg every 12 hours for a weight of 4 to <10 kg, 1000 mg every 12 hours for a weight of 10 to <14 kg, or 1500 mg every 12 hours for a weight of 14 to <20 kg). The primary outcome was treatment failure during the 3-day course of amoxicillin or placebo. The prespecified noninferiority margin was 1.75 percentage points. RESULTS From November 9, 2014, through November 30, 2017, a total of 4002 children underwent randomization (1999 in the placebo group and 2003 in the amoxicillin group). In the per-protocol analysis, the incidence of treatment failure was 4.9% among placebo recipients (95 of 1927 children) and 2.6% among amoxicillin recipients (51 of 1929 children) (between-group difference, 2.3 percentage points; 95% confidence interval [CI], 0.9 to 3.7). Results were similar in the intention-to-treat analysis. The presence of fever and wheeze predicted treatment failure. The number needed to treat to prevent one treatment failure was 44 (95% CI, 31 to 80). One patient (<0.1%) in each group died. Relapse occurred in 40 children (2.2%) in the placebo group and in 58 children (3.1%) in the amoxicillin group. CONCLUSIONS Among children younger than 5 years of age with nonsevere pneumonia, the frequency of treatment failure was higher in the placebo group than in the amoxicillin group, a difference that did not meet the noninferiority margin for placebo.
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39.
  • Jehan, Fyezah, et al. (författare)
  • Should fast breathing pneumonia cases be treated with antibiotics? : The scientific rationale for revisiting management in Low and Middle income countries
  • 2019
  • Ingår i: International Journal of Infectious Diseases. - : ELSEVIER SCI LTD. - 1201-9712 .- 1878-3511. ; 85, s. 64-66
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Pneumonia is the largest single contributor to child mortality and the problem is more acute in low and middle income countries. The World Health Organization (WHO) currently recommends oral antibiotic treatment for all children with fast breathing pneumonia without danger signs. It is, however, widely acknowledged that most such infections are viral and self-limiting and that the evidence for the guidance is weak.Rationale: Overuse of antibiotics exposes children to adverse events, increases cost for families, burdens already stretched health care resources and may contribute to development of antibiotic resistance.Conclusion: There is equipoise regarding utility of antibiotic in case of fast breathing pneumonia and no high quality trial evidence exists. This paper provides further information behind the rationale for conducting non-inferiority trials to test the hypothesis that antibiotics may not be necessary for children with fast breathing as the sole symptomatology.
  •  
40.
  • Jenniskens, Peter, et al. (författare)
  • The impact and recovery of asteroid 2018 LA
  • 2021
  • Ingår i: Meteoritics and Planetary Science. - : John Wiley & Sons. - 1086-9379 .- 1945-5100. ; 56:4, s. 844-893
  • Tidskriftsartikel (refereegranskat)abstract
    • The June 2, 2018 impact of asteroid 2018 LA over Botswana is only the second asteroid detected in space prior to impacting over land. Here, we report on the successful recovery of meteorites. Additional astrometric data refine the approach orbit and define the spin period and shape of the asteroid. Video observations of the fireball constrain the asteroid's position in its orbit and were used to triangulate the location of the fireball's main flare over the Central Kalahari Game Reserve. Twenty‐three meteorites were recovered. A consortium study of eight of these classifies Motopi Pan as an HED polymict breccia derived from howardite, cumulate and basaltic eucrite, and diogenite lithologies. Before impact, 2018 LA was a solid rock of ~156 cm diameter with high bulk density ~2.85 g cm−3, a relatively low albedo pV ~ 0.25, no significant opposition effect on the asteroid brightness, and an impact kinetic energy of ~0.2 kt. The orbit of 2018 LA is consistent with an origin at Vesta (or its Vestoids) and delivery into an Earth‐impacting orbit via the ν6 resonance. The impact that ejected 2018 LA in an orbit toward Earth occurred 22.8 ± 3.8 Ma ago. Zircons record a concordant U‐Pb age of 4563 ± 11 Ma and a consistent 207Pb/206Pb age of 4563 ± 6 Ma. A much younger Pb‐Pb phosphate resetting age of 4234 ± 41 Ma was found. From this impact chronology, we discuss what is the possible source crater of Motopi Pan and the age of Vesta's Veneneia impact basin.
  •  
41.
  • Johnson Mollen, Cynthia, et al. (författare)
  • Paediatric emergency medicine.
  • 2022
  • Ingår i: Archives of Disease in Childhood. - : BMJ Publishing Group Ltd. - 0003-9888 .- 1468-2044. ; 107:3, s. 211-211
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
  •  
42.
  • Jones, Lesley, et al. (författare)
  • Convergent genetic and expression data implicate immunity in Alzheimer's disease
  • 2015
  • Ingår i: Alzheimer's & Dementia. - : Wiley. - 1552-5260 .- 1552-5279. ; 11:6, s. 658-671
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Late-onset Alzheimer's disease (AD) is heritable with 20 genes showing genome-wide association in the International Genomics of Alzheimer's Project (IGAP). To identify the biology underlying the disease, we extended these genetic data in a pathway analysis. Methods: The ALIGATOR and GSEA algorithms were used in the IGAP data to identify associated functional pathways and correlated gene expression networks in human brain. Results: ALIGATOR identified an excess of curated biological pathways showing enrichment of association. Enriched areas of biology included the immune response (P = 3.27 X 10(-12) after multiple testing correction for pathways), regulation of endocytosis (P = 1.31 X 10(-11)), cholesterol transport (P = 2.96 X 10(-9)), and proteasome-ubiquitin activity (P = 1.34 X 10(-6)). Correlated gene expression analysis identified four significant network modules, all related to the immune response (corrected P = .002-.05). Conclusions: The immime response, regulation of endocytosis, cholesterol transport, and protein ubiquitination represent prime targets for AD therapeutics.
  •  
43.
  • Kukka, Antti, et al. (författare)
  • Incidence and outcomes of intrapartum-related neonatal encephalopathy in low-income and middle-income countries: a systematic review and meta-analysis.
  • 2022
  • Ingår i: BMJ global health. - : BMJ. - 2059-7908. ; 7:12
  • Forskningsöversikt (refereegranskat)abstract
    • To examine the incidence of intrapartum-related neonatal encephalopathy, and neonatal mortality and neurodevelopmental outcomes associated with it in low-income and middle-income countries.Reports were included when neonatal encephalopathy diagnosed clinically within 24 hours of birth in term or near-term infants born after intrapartum hypoxia-ischaemia defined as any of the following: (1) pH≤7.1 or base excess ≤-12 or lactate ≥6, (2) Apgar score ≤5 at 5 or 10 min, (3) continuing resuscitation at 5 or 10 min or (4) no cry from baby at 5 or 10 min. Peer-reviewed articles were searched from Ovid MEDLINE, Cochrane, Web of Science and WHO Global Index Medicus with date limits 1 November 2009 to 17 November 2021. Risk of bias was assessed using modified Newcastle Ottawa Scale. Inverse variance of heterogenicity was used for meta-analyses.There were 53 reports from 51 studies presenting data on 4181 children with intrapartum-related neonatal encephalopathy included in the review. Only five studies had data on incidence, which ranged from 1.5 to 20.3 per 1000 live births. Neonatal mortality was examined in 45 studies and in total 636 of the 3307 (19.2%) infants died. Combined outcome of death or moderate to severe neurodevelopmental disability was reported in 19 studies and occurred in 712 out of 1595 children (44.6%) with follow-up 1 to 3.5 years.Though there has been progress in some regions, incidence, case mortality and morbidity in intrapartum-related neonatal encephalopathy has been static in the last 10 years.CRD42020177928.
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44.
  • Kukka, Antti Juhani, et al. (författare)
  • NeuroMotion Smartphone Application for Remote General Movements Assessment : a Feasibility Study in Nepal
  • 2024
  • Ingår i: BMJ Open. - : BMJ Publishing Group Ltd. - 2044-6055. ; 14:3
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVES: To evaluate the feasibility of using the NeuroMotion smartphone application for remote General Movements Assessment for screening of infants for cerebral palsy in Kathmandu, Nepal. METHOD: Thirty-one term born infants at risk of cerebral palsy due to birth asphyxia or neonatal seizures were recruited for the follow-up at Paropakar Maternity and Women’s Hospital, 1st October 2021 to 7th January 2022. Parents filmed their children at home using the app at 3 months’ age and the videos were assessed for technical quality using a standardized form and for fidgety movements by Prechtl’s General Movements Assessment. Usability of the app was evaluated through a parental survey. RESULTS: Twenty families sent in altogether 46 videos out of which 35 had approved technical quality. Sixteen children had at least one video with approved technical quality. Three infants lacked fidgety movements. The level of agreement between assessors was acceptable (Krippendorf alpha 0.781). Parental answers to the usability survey were in general positive. INTERPRETATION: Engaging parents in screening of cerebral palsy with the help of a smartphone-aided remote General Movements Assessment is possible in the urban area of a South Asian lower middle-income country.
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45.
  • Kukka, Antti J., et al. (författare)
  • 'We did everything by phone': a qualitative study of mothers' experience of smartphone-aided screening of cerebral palsy in Kathmandu, Nepal.
  • 2024
  • Ingår i: BMC Pediatrics. - : BMC. - 1471-2431. ; 24:1
  • Tidskriftsartikel (refereegranskat)abstract
    • International guidelines recommend early intervention to all children at risk of cerebral palsy, but targeted screening programs are often lacking in low- and middle-income settings with the highest burden of disease. Smartphone applications have the potential to improve access to early diagnostics by empowering parents to film their children at home followed by centralized evaluation of videos with General Movements Assessment. We explored mothers' perceptions about participating in a smartphone aided cerebral palsy screening program in Kathmandu, Nepal.This is an explorative qualitative study that used focus group discussions (n=2) and individual interviews (n=4) with mothers of term-born infants surviving birth asphyxia or neonatal seizures. Parents used the NeuroMotion™ smartphone app to film their children at home and the videos were analysed using Precthl's General Movements Assessment. Sekhon et al.'s framework on the acceptability of health care interventions guided the design of the group discussions and interviews, and the deductive qualitative content analysis.Mothers were interested in engaging with the programme and expressed hope it would benefit their children. Most felt using the app was intuitive. They were, however, unclear about the way the analysis was performed. Support from the research team was often needed to overcome an initial lack of self-confidence in using the technology, and to reduce anxiety related to the follow-up. The intervention was overall perceived as recommendable but should be supplemented by a face-to-face consultation.Smartphone aided remote screening of cerebral palsy is acceptable in a lower middle-income population but requires additional technical support.
  •  
46.
  • Kukka, Antti, 1988- (författare)
  • Surviving Birth and Thriving : Identifying infants at risk of death and disability in low- and middle-income countries
  • 2024
  • Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
    • Background: Ending preventable newborn deaths is an unfinished global health agenda. Infants surviving birth have a right to thrive and to reach their full developmental potential. The aim of this thesis was to evaluate methods for identification of infants in need of neonatal resuscitation and at risk of disability in low- and middle-income countries.Paper I was an observational study conducted in Pokhara, Nepal, comparing the heart rate in the first 3 minutes in infants who were quietly breathing (n=54) versus crying (n=1155) immediately after birth.  The median heart rate did not differ between the two groups, but both bradycardia and tachycardia were more common among non-crying but breathing newborns.Paper II was a systematic review and meta-analysis of studies examining the incidence and outcomes of intrapartum-related neonatal encephalopathy in low- and middle-income countries. Altogether 53 articles were identified. The incidence ranged from 1.5 to 20.3 per 1000 live births (5 studies), the mean neonatal mortality was 19.3 % (45 studies, 3307 infants), and the incidence of combined outcome of death or moderate to severe disability at follow-up was 44.6 % (19 studies, 1595 children).Paper III evaluated the feasibility of smartphone-aided remote General Movements Assessment for identification of children at risk of cerebral palsy in Kathmandu, Nepal. Children surviving birth asphyxia or neonatal seizures were filmed by parents using the NeuroMotion smartphone application at home at 3 months’ age. Altogether 31 children were enrolled, and 16 parents returned at least one video of approved technical quality. Usability of the app was good based on parental survey.In Paper IV, individual (n=4) and group interviews (n=2) were conducted with ten mothers participating in the smartphone aided follow-up of their infants. The data were analysed using deductive qualitative content analysis. The remote follow-up was acceptable with support from the research assistants. Some participants would have preferred a face-to-face evaluation.Conclusion: Not crying at birth is a potential indicator for need of neonatal resuscitation. Infants who survive resuscitation are at risk of intrapartum-related neonatal encephalopathy, which has persistently high burden particularly in low-income countries. All survivors of encephalopathy need follow-up and smartphone-aided remote General Movements Assessment could complement the assessments in settings similar to Kathmandu.
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47.
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48.
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49.
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50.
  • Maqbool, Shazia, et al. (författare)
  • Construction and validation of ShaMaq developmental screening tool
  • 2024
  • Ingår i: Child Care Health and Development. - : John Wiley & Sons. - 0305-1862 .- 1365-2214. ; 50:1
  • Tidskriftsartikel (refereegranskat)abstract
    • IntroductionThe diagnosis of developmental delay and early intervention ameliorates long-term sequelae. There is a need for an appropriate, regionally adapted and reliable developmental screening tool to be used in low and middle-income countries with scarce resources.AimThe aim of this research is to construct and validate a screening tool for identifying developmental delay in Pakistani children.MethodShaMaq developmental screening tool (SDST) was developed consisting of five proformas to be administered at different age groups: 6-8 weeks (Group 1), 6-10 months (Group 2), 18-24 months (Group 3), 3-3.5 years (Group 4), and 4.5-5.5 years (Group 5). On an average, Groups 1-3 took 10-15 min, whereas Groups 4 and 5 took 20-25 min. We sampled children between the ages of 6 weeks to 5.5 years and tested them all within their designated age groups. Internal consistency was assessed by Cronbach's alpha. Interobserver testing was done for reliability and concurrent validity was undertaken by using the senior consultant developmental paediatrician's final diagnosis as the gold standard.ResultsOut of 550 healthy children, 8-19% in the five groups were found to have some form of developmental delay using SDST. Approximately 50% of the families were in the low-to-moderate income bracket, and nearly 93% lived in a joint family system. Internal consistency of items in the five groups ranged from 0.784 to 0.940, whereas both interobserver reliability and concurrent validity ranged from 0.737 to 1.0. SDST showed 94.4% sensitivity and 92.9% specificity.ConclusionSDST is an effective tool for identifying delay in healthy children with good internal consistency, reliability, and validity.
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