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- Bryois, J., et al.
(författare)
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Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease
- 2020
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 52:5, s. 482-493
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies have discovered hundreds of loci associated with complex brain disorders, but it remains unclear in which cell types these loci are active. Here we integrate genome-wide association study results with single-cell transcriptomic data from the entire mouse nervous system to systematically identify cell types underlying brain complex traits. We show that psychiatric disorders are predominantly associated with projecting excitatory and inhibitory neurons. Neurological diseases were associated with different cell types, which is consistent with other lines of evidence. Notably, Parkinson’s disease was genetically associated not only with cholinergic and monoaminergic neurons (which include dopaminergic neurons) but also with enteric neurons and oligodendrocytes. Using post-mortem brain transcriptomic data, we confirmed alterations in these cells, even at the earliest stages of disease progression. Our study provides an important framework for understanding the cellular basis of complex brain maladies, and reveals an unexpected role of oligodendrocytes in Parkinson’s disease. © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.
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- Delage, F., et al.
(författare)
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ADS fuel developments in Europe : Results from the EUROTRANS integrated project
- 2011
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Ingår i: Energy Procedia. - : Elsevier BV. ; , s. 303-313
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Konferensbidrag (refereegranskat)abstract
- Fuels to be used in Accelerator Driven Systems dedicated to Minor Actinides transmutation can be described as highly innovative in comparison with those used in critical cores. Indeed, ADS fuels are not fertile, so as to improve the transmutation performance and they contain high volumetric concentrations (∼50%) of minor actinides and plutonium compounds. This unusual fuel composition results in high gamma and neutron emissions during its fabrication, as well as degraded performances under irradiation. Ceramic-Ceramic and Ceramic Metallic composite fuels consisting of particles of (Pu, MA)O2 phases dispersed in a magnesia or molybdenum matrix were investigated within the European Research programme for Transmutation, as driver fuels for a prospective 400MWth transmuter: the European Facility for Industrial Transmutation. Fuel performances and safety of preliminary core designs were evaluated to support the project. Out -of-pile as well as in-pile experiments were carried out to gain essential knowledge on properties and behaviour under irradiation of these types of fuel. This paper gives an overview of experimental results within the project.
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- Hautakangas, H, et al.
(författare)
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Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles
- 2022
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 54:2, s. 152-
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Tidskriftsartikel (refereegranskat)abstract
- Migraine affects over a billion individuals worldwide but its genetic underpinning remains largely unknown. Here, we performed a genome-wide association study of 102,084 migraine cases and 771,257 controls and identified 123 loci, of which 86 are previously unknown. These loci provide an opportunity to evaluate shared and distinct genetic components in the two main migraine subtypes: migraine with aura and migraine without aura. Stratification of the risk loci using 29,679 cases with subtype information indicated three risk variants that seem specific for migraine with aura (in HMOX2, CACNA1A and MPPED2), two that seem specific for migraine without aura (near SPINK2 and near FECH) and nine that increase susceptibility for migraine regardless of subtype. The new risk loci include genes encoding recent migraine-specific drug targets, namely calcitonin gene-related peptide (CALCA/CALCB) and serotonin 1F receptor (HTR1F). Overall, genomic annotations among migraine-associated variants were enriched in both vascular and central nervous system tissue/cell types, supporting unequivocally that neurovascular mechanisms underlie migraine pathophysiology.
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- Jacquet, Quentin, et al.
(författare)
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A Fundamental Correlative Spectroscopic Study on Li 1-x NiO 2 and NaNiO 2
- 2024
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Ingår i: Advanced Energy Materials. - 1614-6840 .- 1614-6832. ; In Press
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Tidskriftsartikel (refereegranskat)abstract
- The intricate relationship between local atomic arrangements and electronic states significantly influences the electrochemical properties of Li-ion battery cathode materials. Despite decades of investigation, a consensus regarding the local atomic and electronic structure of LiNiO2 remains elusive. This ambiguity stems from the potential distortion of Ni sites, either via Jahn-Teller (JT) distortion or bond disproportionation (BD), complicating the understanding of the charge compensation mechanism involving Ni and O. This study compares the structures of LiNiO2 and NaNiO2, a JT system, using an innovative approach that integrates bulk spectroscopy techniques on standardized interoperable samples for enhanced reliability. While X-r and theoretical calculations fail to differentiate between the proposed scenarios, Raman spectroscopy highlights local structural distinctions between monoclinic NaNiO2 and rhombohedral LiNiO2. HAXPES confirms various formal oxidation states for Ni, supported by RIXS data indicating 3d8 states, emphasizing negative charge transfer from Ni and some bond disproportionation in LiNiO2. Regarding charge compensation, XRS and RIXS suggest oxygen hole involvement in redox activity, whereas Raman spectroscopy does not detect molecular oxygen. This comprehensive spectroscopic analysis highlights the importance of correlative characterization workflows in elucidating complex structural-electrochemical relationships.
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- Nihlen, S., et al.
(författare)
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Hidden sources of fluids, sodium and potassium in stabilised Swedish ICU patients A multicentre retrospective observational study
- 2021
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Ingår i: European Journal of Anaesthesiology. - : Ovid Technologies (Wolters Kluwer Health). - 0265-0215 .- 1365-2346. ; 38:6, s. 625-633
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND Fluid overload in ICU patients is associated with increased morbidity and mortality. Although studies report on optimisation of resuscitation fluids given to ICU patients, increasing evidence suggests that maintenance fluids and fluids used to administer drugs are important sources of fluid overload. OBJECTIVES We aimed to evaluate the volume of maintenance fluids and electrolytes on overall fluid balance and their relation to mortality in stabilised ICU patients. DESIGN Multicentre retrospective observational study. SETTING Six mixed surgical and medical ICUs in Sweden. PATIENTS A total of 241 adult patients who spent at least 7 days in the ICU during 2018. MAIN OUTCOME MEASURES The primary endpoint was the volume of maintenance, resuscitation and drug diluent fluids administered on days 3 to 7 in the ICU. Secondary endpoints were to compare dispensed amounts of maintenance fluids and electrolytes with predicted requirements. We also investigated the effects of administered fluids and electrolytes on patient outcomes. RESULTS During ICU days 3 to 7, 56.4% of the total fluids given were maintenance fluids, nutritional fluids or both, 25.4% were drug fluids and 18.1% were resuscitation fluids. Patients received fluids 1.29 (95% confidence interval 1.07 to 1.56) times their estimated fluid needs. Despite this, 93% of the cohort was treated with diuretics or renal replacement therapy. Patients were given 2.17 (1.57 to 2.96) times their theoretical sodium needs and 1.22 (0.75 to 1.77) times their potassium needs. The median [IQR] volume of fluid loss during the 5-day study period was 3742 [3156 to 4479] ml day(-1), with urine output the main source of fluid loss. Death at 90 days was not associated with fluid or electrolyte balance in this cohort. CONCLUSION Maintenance and drug fluids far exceeded resuscitative fluids in ICU patients beyond the resuscitative phase. This excess fluid intake, in conjunction with high urinary output and treatment for fluid offload in almost all patients, suggests that a large volume of the maintenance fluids given was unnecessary.
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- Ran, Caroline, et al.
(författare)
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No association between rs7077361 in ITGA8 and Parkinson’s disease in Sweden
- 2016
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Ingår i: Open Neurology Journal. - 1874-205X. ; 10, s. 25-29
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Tidskriftsartikel (refereegranskat)abstract
- Background: Integrin alpha 8 (ITGA8) encodes the alpha 8 subunit of the integrin alpha8beta1 protein and has recently been suggested as a new candidate gene for Parkinson’s disease, an age related neurodegenerative disease with unknown etiology. ITGA8 is a transmembrane protein involved in several cellular processes, such as cell adhesion, migration and cytoskeletal rearrangement. Objective: Screen a Swedish case control material for rs7077361, a genetic variant in ITGA8, in order to investigate its possible implication in Parkinson’s disease in Sweden. Method: Rs7077361 was genotyped using TaqMan quantitative Real-time PCR and tested for association using appropriate statistical methods. Results: We have screened 502 Swedish Parkinson patients and 599 healthy control individuals for rs7077361 in ITGA8. This genetic variant was in Hardy Weinberg equilibrium in the Swedish population. Allele and genotype frequencies were highly similar between the patients and controls and statistical testing showed that this genetic maker did not associate with Parkinson’s disease (p=0.67). Conclusion: Our results do not support the hypothesis of ITGA8 as a candidate gene for Parkinson’s disease in Sweden. © Ran et al.
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