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- Patel, Y., et al.
(författare)
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Virtual Ontogeny of Cortical Growth Preceding Mental Illness
- 2022
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Ingår i: Biological Psychiatry. - : Elsevier BV. - 0006-3223 .- 1873-2402. ; 92:4, s. 299-313
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Tidskriftsartikel (refereegranskat)abstract
- Background: Morphology of the human cerebral cortex differs across psychiatric disorders, with neurobiology and developmental origins mostly undetermined. Deviations in the tangential growth of the cerebral cortex during pre/perinatal periods may be reflected in individual variations in cortical surface area later in life. Methods: Interregional profiles of group differences in surface area between cases and controls were generated using T1-weighted magnetic resonance imaging from 27,359 individuals including those with attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depressive disorder, schizophrenia, and high general psychopathology (through the Child Behavior Checklist). Similarity of interregional profiles of group differences in surface area and prenatal cell-specific gene expression was assessed. Results: Across the 11 cortical regions, group differences in cortical area for attention-deficit/hyperactivity disorder, schizophrenia, and Child Behavior Checklist were dominant in multimodal association cortices. The same interregional profiles were also associated with interregional profiles of (prenatal) gene expression specific to proliferative cells, namely radial glia and intermediate progenitor cells (greater expression, larger difference), as well as differentiated cells, namely excitatory neurons and endothelial and mural cells (greater expression, smaller difference). Finally, these cell types were implicated in known pre/perinatal risk factors for psychosis. Genes coexpressed with radial glia were enriched with genes implicated in congenital abnormalities, birth weight, hypoxia, and starvation. Genes coexpressed with endothelial and mural genes were enriched with genes associated with maternal hypertension and preterm birth. Conclusions: Our findings support a neurodevelopmental model of vulnerability to mental illness whereby prenatal risk factors acting through cell-specific processes lead to deviations from typical brain development during pregnancy.
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| 4. |
- Pulit, S. L., et al.
(författare)
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Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
- 2018
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Ingår i: Neurology-Genetics. - : Ovid Technologies (Wolters Kluwer Health). - 2376-7839. ; 4:6
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Tidskriftsartikel (refereegranskat)abstract
- Objective We sought to assess whether genetic risk factors for atrial fibrillation (AF) can explain cardioembolic stroke risk. We evaluated genetic correlations between a previous genetic study of AF and AF in the presence of cardioembolic stroke using genome-wide genotypes from the Stroke Genetics Network (N = 3,190 AF cases, 3,000 cardioembolic stroke cases, and 28,026 referents). We tested whether a previously validated AF polygenic risk score (PRS) associated with cardioembolic and other stroke subtypes after accounting for AF clinical risk factors. We observed a strong correlation between previously reported genetic risk for AF, AF in the presence of stroke, and cardioembolic stroke (Pearson r = 0.77 and 0.76, respectively, across SNPs with p < 4.4 x 10(-4) in the previous AF meta-analysis). An AF PRS, adjusted for clinical AF risk factors, was associated with cardioembolic stroke (odds ratio [OR] per SD = 1.40, p = 1.45 x 10(-48)), explaining similar to 20% of the heritable component of cardioembolic stroke risk. The AF PRS was also associated with stroke of undetermined cause (OR per SD = 1.07,p = 0.004), but no other primary stroke subtypes (all p > 0.1). Genetic risk of AF is associated with cardioembolic stroke, independent of clinical risk factors. Studies are warranted to determine whether AF genetic risk can serve as a biomarker for strokes caused by AF.
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| 6. |
- Marini, S., et al.
(författare)
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Association of Apolipoprotein E With Intracerebral Hemorrhage Risk by Race/Ethnicity A Meta-analysis
- 2019
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Ingår i: Jama Neurology. - : American Medical Association (AMA). - 2168-6149 .- 2168-6157. ; 76:4, s. 480-491
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Tidskriftsartikel (refereegranskat)abstract
- IMPORTANCE Genetic studies of intracerebral hemorrhage (ICH) have focused mainly on white participants, but genetic risk may vary or could be concealed by differing nongenetic coexposures in nonwhite populations. Transethnic analysis of risk may clarify the role of genetics in ICH risk across populations. OBJECTIVE To evaluate associations between established differences in ICH risk by race/ethnicity and the variability in the risks of apolipoprotein E (APOE) epsilon 4 alleles, the most potent genetic risk factor for ICH. DESIGN, SETTING, AND PARTICIPANTS This case-control study of primary ICH meta-analyzed the association of APOE allele status on ICH risk, applying a 2-stage clustering approach based on race/ethnicity and stratified by a contributing study. A propensity score analysis was used to model the association of APOE with the burden of hypertension across race/ethnic groups. Primary ICH cases and controls were collected from 3 hospital- and population-based studies in the United States and 8 in European sites in the International Stroke Genetic Consortium. Participants were enrolled from January 1, 1999, to December 31, 2017. Participants with secondary causes of ICH were excluded from enrollment. Controls were regionally matched within each participating study. MAIN OUTCOMES AND MEASURES Clinical variables were systematically obtained from structured interviews within each site. APOE genotype was centrally determined for all studies. RESULTS In total, 13 124 participants (7153 [54.5%] male with a median [interquartile range] age of 66 [56-76] years) were included. In white participants, APOE epsilon 2 (odds ratio [OR], 1.49; 95% CI, 1.24-1.80; P < .001) and APOE epsilon 4 (OR, 1.51; 95% CI, 1.23-1.85; P < .001) were associated with lobar ICH risk; however, within self-identified Hispanic and black participants, no associations were found. After propensity score matching for hypertension burden, APOE epsilon 4 was associated with lobar ICH risk among Hispanic (OR, 1.14; 95% CI, 1.03-1.28; P = .01) but not in black (OR, 1.02; 95% CI, 0.98-1.07; P = .25) participants. APOE epsilon 2 and epsilon 4 did not show an association with nonlobar ICH risk in any race/ethnicity. CONCLUSIONS AND RELEVANCE APOE epsilon 4 and epsilon 2 alleles appear to affect lobar ICH risk variably by race/ethnicity, associations that are confirmed in white individuals but can be shown in Hispanic individuals only when the excess burden of hypertension is propensity score-matched; further studies are needed to explore the interactions between APOE alleles and environmental exposures that vary by race/ethnicity in representative populations at risk for ICH.
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- Andreeva, S, et al.
(författare)
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Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant
- 2022
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Ingår i: Frontiers in genetics. - : Frontiers Media SA. - 1664-8021. ; 13, s. 743472-
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary diseases, and it is associated with fatal complications. The clinical heterogeneity of HCM requires risk prediction models to identify patients at a high risk of adverse events. Most HCM cases are caused by mutations in genes encoding sarcomere proteins. However, HCM is associated with rare genetic variants with limited data about its clinical course and prognosis, and existing risk prediction models are not validated for such patients’ cohorts. TRIM63 is one of the rare genes recently described as a cause of HCM with autosomal-recessive inheritance. Herein, we present two cases of HCM associated with TRIM63-compound heterozygous variants in young male sportsmen. They demonstrated progressively marked hypertrophy, advanced diastolic dysfunction, a significant degree of fibrosis detected by magnetic resonance imaging, and clear indications for implantable cardioverter-defibrillator. One of the cases includes the first description of TRIM63-HCM with extreme hypertrophy. The presented cases are discussed in light of molecular consequences that might underlie cardiac and muscle phenotype in patients with mutations of TRIM63, the master regulator of striated muscle mass.
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| 12. |
- Ge, R, et al.
(författare)
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Normative Modeling of Brain Morphometry Across the Lifespan Using CentileBrain: Algorithm Benchmarking and Model Optimization
- 2023
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Ingår i: bioRxiv : the preprint server for biology. - : Cold Spring Harbor Laboratory.
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Background: Normative modeling is a statistical approach to quantify the degree to which a particular individual-level measure deviates from the pattern observed in a normative reference population. When applied to human brain morphometric measures it has the potential to inform about the significance of normative deviations for health and disease. Normative models can be implemented using a variety of algorithms that have not been systematically appraised. Methods: To address this gap, eight algorithms were compared in terms of performance and computational efficiency using brain regional morphometric data from 37,407 healthy individuals (53% female; aged 3-90 years) collated from 87 international MRI datasets. Performance was assessed with the mean absolute error (MAE) and computational efficiency was inferred from central processing unit (CPU) time. The algorithms evaluated were Ordinary Least Squares Regression (OLSR), Bayesian Linear Regression (BLR), Generalized Additive Models for Location, Scale, and Shape (GAMLSS), Parametric Lambda, Mu, Sigma (LMS), Gaussian Process Regression (GPR), Warped Bayesian Linear Regression (WBLG), Hierarchical Bayesian Regression (HBR), and Multivariable Fractional Polynomial Regression (MFPR). Model optimization involved testing nine covariate combinations pertaining to acquisition features, parcellation software versions, and global neuroimaging measures (i.e., total intracranial volume, mean cortical thickness, and mean cortical surface area). Findings: Statistical comparisons across models at PFDR<0.05 indicated that the MFPR-derived sex- and region-specific models with nonlinear polynomials for age and linear effects of global measures had superior predictive accuracy; the range of the MAE of the models of regional subcortical volumes was 70-520 mm3 and the corresponding ranges for regional cortical thickness and regional cortical surface area were 0.09-0.26 mm and 24-560 mm2, respectively. The MFPR-derived models were also computationally more efficient with a CPU time below one second compared to a range of 2 seconds to 60 minutes for the other algorithms. The performance of all sex- and region-specific MFPR models plateaued at sample sizes exceeding 3,000 and showed comparable MAEs across distinct 10-year age-bins covering the human lifespan. Interpretation: These results provide an empirically benchmarked framework for normative modeling of brain morphometry that is useful for interpreting prior literature and supporting future study designs. The model and tools described here are freely available through CentileBrain (https://centilebrain.org/), a user-friendly web platform.
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| 13. |
- Kurbanov, R.N., et al.
(författare)
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A detailed luminescence chronology of the Lower Volga loess-palaeosol sequence at Leninsk
- 2022
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Ingår i: Quaternary Geochronology. - : Elsevier. - 1871-1014 .- 1878-0350. ; 73
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Tidskriftsartikel (refereegranskat)abstract
- We present a detailed luminescence chronology of the loess-palaeosol sequences in the Lower Volga region of Russia at the Leninsk site – an important palaeogeographic archive describing the climate and environmental conditions of regressive stages of the Caspian Sea. The chronology of these sediments has received very little attention compared to the under- and overlying marine deposits. The degree of bleaching was addressed by making use of the differential resetting rates of quartz and feldspar. Our results show that the quartz OSL and feldspar pIRIR50,290 signals were sufficiently bleached before deposition and uncertainties in bleaching have a negligible impact on the reliability of the luminescence ages. The combined quartz OSL and K-feldspar pIRIR50,290 chronology constrains the main stages of the Northern Caspian Lowland evolution during the Late Quaternary. During early MIS 5 (130–120 ka), the northern part of the Lower Volga was covered by a shallow brackish water estuary of the warm Late Khazarian Caspian Sea transgression. After ∼122 ka, the Volga incised the Northern Caspian Lowland surface following sea-level decrease and the start of subaerial conditions at Leninsk. Loess accumulation rate increased towards the end of MIS 5 and two palaeosols of presumably MIS 5с and MIS 5a age formed, exhibiting features evidencing a dry, cold climate, influenced by long seasonal flooding by the Volga River. Cryogenesis affecting the MIS 5a soil is a regional phenomenon and is dated to between ∼70 and 90 ka. The overlying thick Atelian loess unit formed during the cold periods of MIS 4 and MIS 3. Clear erosional features at the top of the Atelian loess are constrained by luminescence to ∼35 to ∼24 ka, allowing reconstruction of erosion of 150–200 cm of loess.
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| 14. |
- Lebedeva, Daria, 1994-, et al.
(författare)
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Sustainable aviation fuel from prehydrolysis liquors
- 2024
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Ingår i: Green Chemistry. - 1463-9262 .- 1463-9270. ; 26:12, s. 7258-7267
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Tidskriftsartikel (refereegranskat)abstract
- Maximizing products of high value and minimizing incineration of side-streams is key to realize future biorefineries. In current textile production from forestry, hemicellulose is removed by prehydrolysis before delignification. The resulting prehydrolysis liquor is incinerated in the recovery boiler at low efficiency. This additional burden on the limiting recovery boiler reduces the pulp production. In this study, we demonstrate that prehydrolysis liquor can be upgraded, in 5 steps, to yield aviation fuels. Prehydrolysis liquors were dehydrated to furfural by zeolite catalysis. Furfural was selectively reduced to furfuryl alcohol by Au@NC. Rhenium-catalysed Achmatowicz rearrangement gave a C5 intermediate susceptible to self [2 + 2] cycloaddition to give the C10 oxygenated precursor. By using a combination of Ru/C and zeolites, full hydrodeoxygenation was achieved. The overall transformation from furfural to hydrocarbons resulted in a 48% carbon yield. The resulting hydrocarbons, containing an anticipated strained four-membered ring, are preferred aviation fuel components. This is an important step to show that aviation fuels can be produced sustainably from existing industrial side-streams. A comparative life cycle assessment was applied to evaluate the environmental impact of the proposed valorization approach, demonstrating benefits in the climate change impact category when implementing this technology in a pulp mill compared to the incineration of pre-hydrolysis liquor scenario.
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| 15. |
- Milfont, T. L., et al.
(författare)
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On the Relation Between Social Dominance Orientation and Environmentalism: A 25-Nation Study
- 2018
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Ingår i: Social Psychological and Personality Science. - : SAGE Publications. - 1948-5506 .- 1948-5514. ; 9:7, s. 802-814
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Tidskriftsartikel (refereegranskat)abstract
- Approval of hierarchy and inequality in society indexed by social dominance orientation (SDO) extends to support for human dominance over the natural world. We tested this negative association between SDO and environmentalism and the validity of the new Short Social Dominance Orientation Scale in two cross-cultural samples of students (N = 4,163, k = 25) and the general population (N = 1,237, k = 10). As expected, the higher people were on SDO, the less likely they were to engage in environmental citizenship actions, pro-environmental behaviors and to donate to an environmental organization. Multilevel moderation results showed that the SDO-environmentalism relation was stronger in societies with marked societal inequality, lack of societal development, and environmental standards. The results highlight the interplay between individual psychological orientations and social context, as well as the view of nature subscribed to by those high in SDO.
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| 16. |
- Savelev, Aleksandr D., et al.
(författare)
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980-970 Ma Sette-Daban event of the Siberian craton : new geochronological and geochemical data, relationship to LIP and potential connection with other LIPs
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Ingår i: International Geology Review. - 0020-6814.
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Tidskriftsartikel (refereegranskat)abstract
- The paper presents new geological, geochronological, geochemical and Nd-Sr isotopic data on the Meso- Neoproterozoic dolerites of the Siberian Craton. New U-Pb baddeleyite and apatite ages of a E-W-trending dyke and two sills from southeastern Siberia are 982 ± 11, 977 ± 7, 970 ± 31 and 972 ± 60 Ma, respectively, extending the area of distribution of the event by more than 100 km to the north. The Sette-Daban intrusions are subalkalic mostly low-Ti dolerites, although high-Ti dolerites have been locally documented as well. Trace element abundances in dolerites vary from typical to E-MORB to OIB with arc-like signatures represented by high Th/Yb and low TiO2/Yb ratios. All dolerite samples display moderately positive εNd(t) values varying from +3.3 to +7.7 and indicating the magmas were derived from a depleted mantle source. E-MORB and OIB intrusions are attributed to the different degree of interaction of magma between the depleted asthenospheric mantle and regions within the sub-continental lithospheric mantle (SCLM) that were metasomatically enriched during earlier subduction events. Available data on Sette-Daban event distribution, composition and duration satisfy the characteristics of a typical Large Igneous Province (LIP). Similar age 1000–950 Ma mafic magmatism is also recognized in the Baltic and Amazonian cratons and can be potentially correlated with the Sette-Daban event.
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