| 1. |
- de Rojas, I., et al.
(författare)
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Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
- 2021
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
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Tidskriftsartikel (refereegranskat)abstract
- Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease. © 2021, The Author(s).
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| 2. |
- Marconi, A., et al.
(författare)
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ANDES, the high resolution spectrograph for the ELT : science case, baseline design and path to construction
- 2022
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Ingår i: GROUND-BASED AND AIRBORNE INSTRUMENTATION FOR ASTRONOMY IX. - : SPIE - International Society for Optical Engineering. - 9781510653504 - 9781510653498
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Konferensbidrag (refereegranskat)abstract
- The first generation of ELT instruments includes an optical-infrared high resolution spectrograph, indicated as ELT-HIRES and recently christened ANDES (ArmazoNes high Dispersion Echelle Spectrograph). ANDES consists of three fibre-fed spectrographs (UBV, RIZ, YJH) providing a spectral resolution of similar to 100,000 with a minimum simultaneous wavelength coverage of 0.4-1.8 mu m with the goal of extending it to 0.35-2.4 mu m with the addition of a K band spectrograph. It operates both in seeing- and diffraction-limited conditions and the fibre-feeding allows several, interchangeable observing modes including a single conjugated adaptive optics module and a small diffraction-limited integral field unit in the NIR. Its modularity will ensure that ANDES can be placed entirely on the ELT Nasmyth platform, if enough mass and volume is available, or partly in the Coude room. ANDES has a wide range of groundbreaking science cases spanning nearly all areas of research in astrophysics and even fundamental physics. Among the top science cases there are the detection of biosignatures from exoplanet atmospheres, finding the fingerprints of the first generation of stars, tests on the stability of Nature's fundamental couplings, and the direct detection of the cosmic acceleration. The ANDES project is carried forward by a large international consortium, composed of 35 Institutes from 13 countries, forming a team of more than 200 scientists and engineers which represent the majority of the scientific and technical expertise in the field among ESO member states.
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| 3. |
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| 4. |
- James, S. L., et al.
(författare)
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Epidemiology of injuries from fire, heat and hot substances : Global, regional and national morbidity and mortality estimates from the Global Burden of Disease 2017 study
- 2019
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Ingår i: Injury Prevention. - : BMJ Publishing Group. - 1353-8047 .- 1475-5785.
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Tidskriftsartikel (refereegranskat)abstract
- Background: Past research has shown how fires, heat and hot substances are important causes of health loss globally. Detailed estimates of the morbidity and mortality from these injuries could help drive preventative measures and improved access to care. Methods: We used the Global Burden of Disease 2017 framework to produce three main results. First, we produced results on incidence, prevalence, years lived with disability, deaths, years of life lost and disability-adjusted life years from 1990 to 2017 for 195 countries and territories. Second, we analysed these results to measure mortality-to-incidence ratios by location. Third, we reported the measures above in terms of the cause of fire, heat and hot substances and the types of bodily injuries that result. Results: Globally, there were 8 991 468 (7 481 218 to 10 740 897) new fire, heat and hot substance injuries in 2017 with 120 632 (101 630 to 129 383) deaths. At the global level, the age-standardised mortality caused by fire, heat and hot substances significantly declined from 1990 to 2017, but regionally there was variability in age-standardised incidence with some regions experiencing an increase (eg, Southern Latin America) and others experiencing a significant decrease (eg, High-income North America). Conclusions: The incidence and mortality of injuries that result from fire, heat and hot substances affect every region of the world but are most concentrated in middle and lower income areas. More resources should be invested in measuring these injuries as well as in improving infrastructure, advancing safety measures and ensuring access to care. © Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY. Published by BMJ.
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| 5. |
- Micah, Angela E., et al.
(författare)
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Tracking development assistance for health and for COVID-19 : a review of development assistance, government, out-of-pocket, and other private spending on health for 204 countries and territories, 1990-2050
- 2021
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Ingår i: The Lancet. - : Elsevier. - 0140-6736 .- 1474-547X. ; 398:10308, s. 1317-1343
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Forskningsöversikt (refereegranskat)abstract
- Background The rapid spread of COVID-19 renewed the focus on how health systems across the globe are financed, especially during public health emergencies. Development assistance is an important source of health financing in many low-income countries, yet little is known about how much of this funding was disbursed for COVID-19. We aimed to put development assistance for health for COVID-19 in the context of broader trends in global health financing, and to estimate total health spending from 1995 to 2050 and development assistance for COVID-19 in 2020. Methods We estimated domestic health spending and development assistance for health to generate total health-sector spending estimates for 204 countries and territories. We leveraged data from the WHO Global Health Expenditure Database to produce estimates of domestic health spending. To generate estimates for development assistance for health, we relied on project-level disbursement data from the major international development agencies' online databases and annual financial statements and reports for information on income sources. To adjust our estimates for 2020 to include disbursements related to COVID-19, we extracted project data on commitments and disbursements from a broader set of databases (because not all of the data sources used to estimate the historical series extend to 2020), including the UN Office of Humanitarian Assistance Financial Tracking Service and the International Aid Transparency Initiative. We reported all the historic and future spending estimates in inflation-adjusted 2020 US$, 2020 US$ per capita, purchasing-power parity-adjusted US$ per capita, and as a proportion of gross domestic product. We used various models to generate future health spending to 2050. Findings In 2019, health spending globally reached $8. 8 trillion (95% uncertainty interval [UI] 8.7-8.8) or $1132 (1119-1143) per person. Spending on health varied within and across income groups and geographical regions. Of this total, $40.4 billion (0.5%, 95% UI 0.5-0.5) was development assistance for health provided to low-income and middle-income countries, which made up 24.6% (UI 24.0-25.1) of total spending in low-income countries. We estimate that $54.8 billion in development assistance for health was disbursed in 2020. Of this, $13.7 billion was targeted toward the COVID-19 health response. $12.3 billion was newly committed and $1.4 billion was repurposed from existing health projects. $3.1 billion (22.4%) of the funds focused on country-level coordination and $2.4 billion (17.9%) was for supply chain and logistics. Only $714.4 million (7.7%) of COVID-19 development assistance for health went to Latin America, despite this region reporting 34.3% of total recorded COVID-19 deaths in low-income or middle-income countries in 2020. Spending on health is expected to rise to $1519 (1448-1591) per person in 2050, although spending across countries is expected to remain varied. Interpretation Global health spending is expected to continue to grow, but remain unequally distributed between countries. We estimate that development organisations substantially increased the amount of development assistance for health provided in 2020. Continued efforts are needed to raise sufficient resources to mitigate the pandemic for the most vulnerable, and to help curtail the pandemic for all. Copyright (C) 2021 The Author(s). Published by Elsevier Ltd.
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| 6. |
- Callaway, EM, et al.
(författare)
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A multimodal cell census and atlas of the mammalian primary motor cortex
- 2021
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 598:7879, s. 86-102
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Tidskriftsartikel (refereegranskat)abstract
- Here we report the generation of a multimodal cell census and atlas of the mammalian primary motor cortex as the initial product of the BRAIN Initiative Cell Census Network (BICCN). This was achieved by coordinated large-scale analyses of single-cell transcriptomes, chromatin accessibility, DNA methylomes, spatially resolved single-cell transcriptomes, morphological and electrophysiological properties and cellular resolution input–output mapping, integrated through cross-modal computational analysis. Our results advance the collective knowledge and understanding of brain cell-type organization1–5. First, our study reveals a unified molecular genetic landscape of cortical cell types that integrates their transcriptome, open chromatin and DNA methylation maps. Second, cross-species analysis achieves a consensus taxonomy of transcriptomic types and their hierarchical organization that is conserved from mouse to marmoset and human. Third, in situ single-cell transcriptomics provides a spatially resolved cell-type atlas of the motor cortex. Fourth, cross-modal analysis provides compelling evidence for the transcriptomic, epigenomic and gene regulatory basis of neuronal phenotypes such as their physiological and anatomical properties, demonstrating the biological validity and genomic underpinning of neuron types. We further present an extensive genetic toolset for targeting glutamatergic neuron types towards linking their molecular and developmental identity to their circuit function. Together, our results establish a unifying and mechanistic framework of neuronal cell-type organization that integrates multi-layered molecular genetic and spatial information with multi-faceted phenotypic properties.
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| 7. |
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| 8. |
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| 9. |
- Woodcock, B. A., et al.
(författare)
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Meta-analysis reveals that pollinator functional diversity and abundance enhance crop pollination and yield
- 2019
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1
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Tidskriftsartikel (refereegranskat)abstract
- How insects promote crop pollination remains poorly understood in terms of the contribution of functional trait differences between species. We used meta-analyses to test for correlations between community abundance, species richness and functional trait metrics with oilseed rape yield, a globally important crop. While overall abundance is consistently important in predicting yield, functional divergence between species traits also showed a positive correlation. This result supports the complementarity hypothesis that pollination function is maintained by non-overlapping trait distributions. In artificially constructed communities (mesocosms), species richness is positively correlated with yield, although this effect is not seen under field conditions. As traits of the dominant species do not predict yield above that attributed to the effect of abundance alone, we find no evidence in support of the mass ratio hypothesis. Management practices increasing not just pollinator abundance, but also functional divergence, could benefit oilseed rape agriculture.
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| 10. |
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| 11. |
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| 12. |
- Marconi, A., et al.
(författare)
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EELT-HIRES the high-resolution spectrograph for the E-ELT
- 2016
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Ingår i: GROUND-BASED AND AIRBORNE INSTRUMENTATION FOR ASTRONOMY VI. - : SPIE. - 9781510601963
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Konferensbidrag (refereegranskat)abstract
- The first generation of E-ELT instruments will include an optical infrared High Resolution Spectrograph, conventionally indicated as EELT-HIRES, which will be capable of providing unique breakthroughs in the fields of exoplanets, star and planet formation, physics and evolution of stars and galaxies, cosmology and fundamental physics. A 2-year long phase A study for EELT-HIRES has just started and will be performed by a consortium composed of institutes and organisations from Brazil, Chile, Denmark, France, Germany, Italy, Poland, Portugal, Spain, Sweden, Switzerland and United Kingdom. In this paper we describe the science goals and the preliminary technical concept for EELT-HIRES which will be developed during the phase A, as well as its planned development and consortium organisation during the study.
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| 13. |
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| 14. |
- Hayes, Steven C., et al.
(författare)
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Report of the ACBS Task Force on the strategies and tactics of contextual behavioral science research
- 2021
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Ingår i: Journal of Contextual Behavioral Science. - : Elsevier. - 2212-1447. ; 20, s. 172-183
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Tidskriftsartikel (refereegranskat)abstract
- Throughout its history the strategy and tactics of contextual behavioral science (CBS) research have had distinctive features as compared to traditional behavioral science approaches. Continued progress in CBS research can be facilitated by greater clarity about how its strategy and tactics can be brought to bear on current challenges. The present white paper is the result of a 2 1/2-year long process designed to foster consensus among representative producers and consumers of CBS research about the best strategic pathway forward. The Task Force agreed that CBS research should be multilevel, process-based, multidimensional, prosocial, and pragmatic, and provided 33 recommendations to the CBS community arranged across these characteristics. In effect, this report provides a detailed research agenda designed to maximize the impact of CBS as a field. Scientists and practitioners are encouraged to mount this ambitious agenda.
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| 15. |
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| 16. |
- Iverson, N. R., et al.
(författare)
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A Theoretical Model of Drumlin Formation Based on Observations at Múlajökull, Iceland
- 2017
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Ingår i: Journal of Geophysical Research - Earth Surface. - 0148-0227 .- 2156-2202. ; 122:12, s. 2302-2323
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Tidskriftsartikel (refereegranskat)abstract
- Abstract The drumlin field at the surge-type glacier, Múlajökull, provides an unusual opportunity to build a model of drumlin formation based on field observations in a modern drumlin-forming environment. These observations indicate that surges deposit till layers that drape the glacier forefield, conform to drumlin surfaces, and are deposited in shear. Observations also indicate that erosion helps create drumlin relief, effective stresses in subglacial till are highest between drumlins, and during quiescent flow, crevasses on the glacier surface overlie drumlins while subglacial channels occupy intervening swales. In the model, we consider gentle undulations on the bed bounded by subglacial channels at low water pressure. During quiescent flow, slip of temperate ice across these undulations and basal water flow toward bounding channels create an effective stress distribution that maximizes till entrainment in ice on the heads and flanks of drumlins. Crevasses amplify this effect but are not necessary for it. During surges, effective stresses are uniformly low, and the bed shears pervasively. Vigorous basal melting during surges releases debris from ice and deposits it on the bed, with deposition augmented by transport in the deforming bed. As surge cycles progress, drumlins migrate downglacier and grow at increasing rates, due to positive feedbacks that depend on drumlin height. Drumlin growth can be accompanied by either net aggradation or erosion of the bed, and drumlin heights and stratigraphy generally correspond with observations. This model highlights that drumlin growth can reflect instabilities other than those of bed shear instability models, which require heuristic till transport assumptions.
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| 17. |
- McCracken, R. G., et al.
(författare)
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Origin of the active drumlin field at Mulajokull, Iceland: New insights from till shear and consolidation patterns
- 2016
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Ingår i: Quaternary Science Reviews. - : Elsevier BV. - 0277-3791. ; 148, s. 243-260
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Tidskriftsartikel (refereegranskat)abstract
- Stratigraphic and morphologic data previously collected from the forefleld of Millajokull, Iceland, suggest that its recent surge cycles are responsible for the formation of drumlins there and that their relief reflects both deposition on drumlins and erosion between them. We have tested these ideas and aspects of leading models of drumlin formation by studying past patterns of bed deformation and effective stress in basal tills of the glacier's forefield. Patterns of till strain indicated by the anisotropy of magnetic susceptibility (AMS) of similar to 2300 intact till samples indicate that till was deposited during shear deformation, with shearing azimuths and planes that conform to the drumlin morphology. Thus, till deposition occurred as drumlins grew, in agreement with LiDAR data indicating that the degree of aggradation of the glacier forefleld is largest in areas subjected to the most surges. Previously described unconformities on the drumlin flanks, however, indicate that drumlin relief at Mulajokull has resulted, in part, from erosion. Given that the last surge deposited a till layer both on and between drumlins, a reasonable hypothesis is that erosion between drumlins occurred during normal (quiescent) flow of the glacier between surges. Densities of till samples, analyzed in conjunction with laboratory consolidation tests, indicate that effective stresses on the bed during such periods were on the order of 100 kPa larger between drumlins than within them, an observation consistent with subglacial channels at low water pressure occupying interdrumlin areas. Transport of sediment by turbulent flow in these channels or high effective stress adjacent to them causing enhanced till entrainment in ice or increased depths of bed deformation would promote the sediment flux divergence necessary to erode areas between drumlins. The observation that effective stresses were higher between drumlins than within them is the opposite of that presumed in leading models of drumlin formation. Moreover, the lack of AMS-fabric evidence of longitudinal compression in drumlin tills does not support some models of drumlin formation that invoke negative till-flux gradients in a deforming bed.
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| 18. |
- Pelló, R., et al.
(författare)
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The WIRCam Ultra Deep Survey (WUDS) I. Survey overview and UV luminosity functions at z similar to 5 and z similar to 6
- 2018
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Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 620
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this paper is to introduce the WIRCam Ultra Deep Survey (WUDS), a near-IR photometric survey carried out at the CFH Telescope in the field of the CFHTLS-D3 field (Groth Strip). WUDS includes four near-IR bands (Y, J, H and K-s) over a field of view of similar to 400 arcmin(2). The typical depth of WUDS data reaches between similar to 26.8 in Y and J, and similar to 26 in H and K-s (AB, 3 sigma- in 1.3 '' aperture), whereas the corresponding depth of the CFHTLS-D3 images in this region ranges between 28.6 and 29 in ugr, 28.2 in i and 27.1 in z (same S/N and aperture). The area and depth of this survey were specifically tailored to set strong constraints on the cosmic star formation rate and the luminosity function brighter or around L* in the z similar to 6-10 redshift domain, although these data are also useful for a variety of extragalactic projects. This first paper is intended to present the properties of the public WUDS survey in details: catalog building, completeness and depth, number counts, photometric redshifts, and global properties of the galaxy population. We have also concentrated on the selection and characterization of galaxy samples at z similar to [4.5-7] in this field. For these purposes, we include an adjacent shallower area of similar to 1260 arcmin(2) in this region, extracted from the WIRCam Deep Survey (WIRDS), and observed in J, H and K-s bands. UV luminosity functions were derived at z - 5 and z - 6 taking advantage from the fact that WUDS covers a particularly interesting regime at intermediate luminosities, which allows a combined determination of M* and Phi* with increased accuracy. Our results on the luminosity function are consistent with a small evolution of both M* and Phi* between z = 5 and z = 6, irrespective of the method used to derive them, either photometric redshifts applied to blindly-selected dropout samples or the classical Lyman Break Galaxy color-preselected samples. Our results lend support to higher Phi* determinations at z = 6 than usually reported. The selection and combined analysis of different galaxy samples at z >= 7 will be presented in a forthcoming paper, as well as the evolution of the UV luminosity function between z similar to 4.5 and 9. WUDS is intended to provide a robust database in the near-IR for the selection of targets for detailed spectroscopic studies, in particular for the EMIR/GTC GOYA Survey.
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| 19. |
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| 20. |
- Sanabria-Mazo, Juan P., et al.
(författare)
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Efficacy, cost-utility and physiological effects of Acceptance and Commitment Therapy (ACT) and Behavioural Activation Treatment for Depression (BATD) in patients with chronic low back pain and depression : study protocol of a randomised, controlled trial including mobile-technology-based ecological momentary assessment (IMPACT study)
- 2020
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Ingår i: BMJ Open. - : BMJ. - 2044-6055. ; 10:7
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Tidskriftsartikel (refereegranskat)abstract
- Introduction The IMPACT study focuses on chronic low back pain (CLBP) and depression symptoms, a prevalent and complex problem that represents a challenge for health professionals. Acceptance and Commitment Therapy (ACT) and Brief Behavioural Activation Treatment for Depression (BATD) are effective treatments for patients with persistent pain and depression, respectively. The objectives of this 12 month, multicentre, randomised, controlled trial (RCT) are (i) to examine the efficacy and cost-utility of adding a group-based form of ACT or BATD to treatment-as-usual (TAU) for patients with CLBP and moderate to severe levels of depressive symptoms; (ii) identify pre-post differences in levels of some physiological variables and (iii) analyse the role of polymorphisms in theFKBP5gene, psychological process measures and physiological variables as mediators or moderators of long-term clinical changes. Methods and analysis Participants will be 225 patients with CLBP and moderate to severe depression symptoms recruited at Parc Sanitari Sant Joan de Deu (St. Boi de Llobregat, Spain) and Hospital del Mar (Barcelona, Spain), randomly allocated to one of the three study arms: TAU vs TAU+ACT versus TAU+BATD. A comprehensive assessment to collect clinical variables and costs will be conducted pretreatment, post-treatment and at 12 months follow-up, being pain interference the primary outcome measure. The following physiological variables will be considered at pretreatment and post-treatment assessments in 50% of the sample: immune-inflammatory markers, hair cortisol and cortisone, serum cortisol, corticosteroid-binding globulin and vitamin D. Polymorphisms in theFKBP5gene (rs3800373, rs9296158, rs1360780, rs9470080 and rs4713916) will be analysed at baseline assessment. Moreover, we will include mobile-technology-based ecological momentary assessment, through the Pain Monitor app, to track ongoing clinical status during ACT and BATD treatments. Linear mixed-effects models using restricted maximum likelihood, and a full economic evaluation applying bootstrapping techniques, acceptability curves and sensitivity analyses will be computed. Ethics and dissemination This study has been approved by the Ethics Committee of the Fundacio Sant Joan de Deu and Hospital del Mar. The results will be actively disseminated through peer-reviewed journals, conference presentations, social media and various community engagement activities.
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