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1.
  • Munn-Chernoff, M. A., et al. (författare)
  • Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies
  • 2021
  • Ingår i: Addiction Biology. - : Wiley. - 1355-6215 .- 1369-1600. ; 26:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa and problem alcohol use (genetic correlation [r(g)], twin-based = 0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge eating, AN without binge eating, and a bulimia nervosa factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder and schizophrenia. Total study sample sizes per phenotype ranged from similar to 2400 to similar to 537 000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder- and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (r(g) = 0.18; false discovery rate q = 0.0006), cannabis initiation and AN (r(g) = 0.23; q < 0.0001), and cannabis initiation and AN with binge eating (r(g) = 0.27; q = 0.0016). Conversely, significant negative genetic correlations were observed between three nondiagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge eating (r(gs) = -0.19 to -0.23; qs < 0.04). The genetic correlation between AUD and AN was no longer significant after co-varying for major depressive disorder loci. The patterns of association between eating disorder- and substance-use-related phenotypes highlights the potentially complex and substance-specific relationships among these behaviors.
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  • Bryois, J., et al. (författare)
  • Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease
  • 2020
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 52:5, s. 482-493
  • 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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  • Watson, H. J., et al. (författare)
  • Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
  • 2019
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 51:8
  • Tidskriftsartikel (refereegranskat)abstract
    • Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness(1), affecting 0.9-4% of women and 0.3% of men(2-4), with twin-based heritability estimates of 50-60%(5). Mortality rates are higher than those in other psychiatric disorders(6), and outcomes are unacceptably poor(7). Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI)(8,9) and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes.
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  • Nguyen, F., et al. (författare)
  • Undulators and Light Production with the XLS-CompactLight Design Study
  • 2022
  • Ingår i: MOSCOW UNIVERSITY PHYSICS BULLETIN. - : Allerton Press. - 0027-1349 .- 1934-8460. ; 77:2, s. 241-244
  • Tidskriftsartikel (refereegranskat)abstract
    • Free electron laser (FEL) facilities provide broadly tunable and highly coherent photon beams. These machines still have an unexplored potential and development. The XLS-CompactLight design aims at a flexible hard plus soft X-ray FEL facility exploiting the latest concepts in terms of short period magnetic undulators, paving the road towards more compact photon sources.
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  • Walton, Esther, et al. (författare)
  • Brain Structure in Acutely Underweight and Partially Weight-Restored Individuals With Anorexia Nervosa : A Coordinated Analysis by the ENIGMA Eating Disorders Working Group
  • 2022
  • Ingår i: Biological Psychiatry. - : Elsevier. - 0006-3223 .- 1873-2402. ; 92:9, s. 730-738
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: The pattern of structural brain abnormalities in anorexia nervosa (AN) is still not well understood. While several studies report substantial deficits in gray matter volume and cortical thickness in acutely underweight patients, others find no differences, or even increases in patients compared with healthy control subjects. Recent weight regain before scanning may explain some of this heterogeneity. To clarify the extent, magnitude, and de-pendencies of gray matter changes in AN, we conducted a prospective, coordinated meta-analysis of multicenter neuroimaging data.METHODS: We analyzed T1-weighted structural magnetic resonance imaging scans assessed with standardized methods from 685 female patients with AN and 963 female healthy control subjects across 22 sites worldwide. In addition to a case-control comparison, we conducted a 3-group analysis comparing healthy control subjects with acutely underweight AN patients (n = 466) and partially weight-restored patients in treatment (n = 251).RESULTS: In AN, reductions in cortical thickness, subcortical volumes, and, to a lesser extent, cortical surface area were sizable (Cohen's d up to 0.95), widespread, and colocalized with hub regions. Highlighting the effects of un-dernutrition, these deficits were associated with lower body mass index in the AN sample and were less pronounced in partially weight-restored patients.CONCLUSIONS: The effect sizes observed for cortical thickness deficits in acute AN are the largest of any psychiatric disorder investigated in the ENIGMA (Enhancing Neuro Imaging Genetics through Meta Analysis) Consortium to date. These results confirm the importance of considering weight loss and renutrition in biomedical research on AN and underscore the importance of treatment engagement to prevent potentially long-lasting structural brain changes in this population.
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  • Watson, Hunna J., et al. (författare)
  • Common Genetic Variation and Age of Onset of Anorexia Nervosa
  • 2022
  • Ingår i: BIOLOGICAL PSYCHIATRY: GLOBAL OPEN SCIENCE. - : Elsevier BV. - 2667-1743. ; 2:4, s. 368-378
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Genetics and biology may influence the age of onset of anorexia nervosa (AN). The aims of this study were to determine whether common genetic variation contributes to age of onset of AN and to investigate the genetic associations between age of onset of AN and age at menarche.METHODS: A secondary analysis of the Psychiatric Genomics Consortium genome-wide association study (GWAS) of AN was performed, which included 9335 cases and 31,981 screened controls, all from European ancestries. We conducted GWASs of age of onset, early-onset AN (,13 years), and typical-onset AN, and genetic correlation, genetic risk score, and Mendelian randomization analyses.RESULTS: Two loci were genome-wide significant in the typical-onset AN GWAS. Heritability estimates (single nucleotide polymorphism-h2) were 0.01-0.04 for age of onset, 0.16-0.25 for early-onset AN, and 0.17-0.25 for typical-onset AN. Early-and typical-onset AN showed distinct genetic correlation patterns with putative risk factors for AN. Specifically, early-onset AN was significantly genetically correlated with younger age at menarche, and typical-onset AN was significantly negatively genetically correlated with anthropometric traits. Genetic risk scores for age of onset and early-onset AN estimated from independent GWASs significantly predicted age of onset. Mendelian randomization analysis suggested a causal link between younger age at menarche and early -onset AN.CONCLUSIONS: Our results provide evidence consistent with a common variant genetic basis for age of onset and implicate biological pathways regulating menarche and reproduction.
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  • Do, S., et al. (författare)
  • Associations Between Psychosocial Well-Being, Stressful Life Events and Emotion-Driven Impulsiveness in European Adolescents
  • 2022
  • Ingår i: Journal of Youth and Adolescence. - : Springer Science and Business Media LLC. - 0047-2891 .- 1573-6601. ; 51, s. 1106-1117
  • Tidskriftsartikel (refereegranskat)abstract
    • Knowing the extent to which mental well-being and stressful life events during adolescence contribute to personality characteristics related to risk-taking behaviors, such as emotion-driven impulsiveness, is highly relevant for the development of health promotion measures. This study examined whether psychosocial well-being and different stressful life events are associated with emotion-driven impulsiveness. In total, 3,031 adolescents (52% girls; M-age = 13.6 years) were included from the I. Family Study, a cross-sectional examination on lifestyle-related behaviors conducted across eight European countries in 2013/14. Linear mixed-effects regression models showed that higher psychosocial well-being was associated with lower emotion-driven impulsiveness independent of socio-demographic, health-related, and parental variables. A higher number of stressful life events was associated with higher emotion-driven impulsiveness. Psychosocial well-being and stressful life events need to be further considered in the development and tailoring of health promotion strategies that aim to reduce emotion-driven impulsiveness.
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  • Coumans, J. M. J., et al. (författare)
  • Emotion-driven impulsiveness and snack food consumption of European adolescents: Results from the I.Family study
  • 2018
  • Ingår i: Appetite. - : Elsevier BV. - 0195-6663 .- 1095-8304. ; 123, s. 152-159
  • Tidskriftsartikel (refereegranskat)abstract
    • We aimed to investigate the association between emotion-driven impulsiveness and snack food consumption in 1039 European adolescents aged 12–18 years. During the cross-sectional examination in 2013/2014, complete information was collected on: emotion-driven impulsiveness (using the negative urgency subscale from the Urgency, Premeditation, Perseverance, Sensation seeking, and Positive urgency (UPPS-P) Impulsive Behaviour Scale) and snacking behaviour operationalised as 1) consumption frequency of daily snacks, 2) consumption frequency of energy-dense snacks (both measured using Food Frequency Questionnaire) and 3) usual energy intake of food consumed per snacking occasion in calories. The latter was measured using online self-administered 24-h dietary recalls and was estimated based on the National Cancer Institute (NCI) Method. Anthropometric variables were measured and BMI z-score (zBMI) calculated. Age, sex, highest education level of the family and country of residence were assessed using a questionnaire. Mixed-effect regression analyses were separately conducted for each snacking behaviour outcome with emotion-driven impulsiveness as the exposure. After controlling for zBMI, age, sex, country and socioeconomic status, emotion-driven impulsiveness was positively associated with daily consumption frequency of snacks (β = 0.07, 95% Confidence Interval (CI) [0.02, 0.12]) and consumption frequency of energy-dense snacks (β = 0.25, 95% CI [0.19, 0.31]), but not with usual energy intake of food per snacking (β = 2.52, 95% CI [-0.55, 5.59]). Adolescents with a stronger emotion-driven impulsiveness tendency reported a higher snacking frequency and specifically more energy-dense snacks, whereas the energy intake of snack food seemed less important. These findings have implications for obesity prevention and treatment as they indicate the importance of targeting emotion-driven impulsiveness as a strategy to avoid excessive snacking.
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  • Coumans, J M J, et al. (författare)
  • The association of emotion-driven impulsiveness, cognitive inflexibility and decision-making with weight status in European adolescents.
  • 2018
  • Ingår i: International journal of obesity (2005). - : Springer Science and Business Media LLC. - 1476-5497 .- 0307-0565. ; 42, s. 655-661
  • Tidskriftsartikel (refereegranskat)abstract
    • to explore the association between emotion-driven impulsiveness, cognitive inflexibility, decision-making and with weight status as reflected in BMI z-score (zBMI) in European adolescents.In total 3 354 adolescent aged between 12 and 18 years from the I.Family cohort completed the questionnaire based negative urgency subscale from the UPPS-P Impulsive Behavior Scale to measure emotion-driven impulsiveness in 2013/2014. Furthermore, 1 584 adolescents completed the computer-based Bergs Card Sorting Test to measure cognitive inflexibility, and 1 780 adolescents completed the Hungry Donkey Test to assess decision-making ability. Anthropometric variables were measured objectively; confounding variables (age, sex, socioeconomic status and country) were assessed using a questionnaire. Mixed-effect regression analyses were conducted for each outcome of the test or questionnaire as a predictor with standardised body mass index (zBMI) as the dependent variable in order to investigate association between markers of cognitive functioning and zBMI.After controlling for confounders, results showed that emotion-driven impulsiveness (β=0.18, 95% CI: 0.13 to 0.24, P<0.001), and cognitive inflexibility (β=0.01, 95% CI: 0.002 to 0.02, P=0.016) were positively associated with zBMI. However, decision-making ability was not significantly related to zBMI (β=0.00, 95% CI: -0.001 to 0.003, P=0.47).More emotion-driven impulsiveness and reduced cognitive flexibility were associated with a higher zBMI in adolescents across Europe. These results may indicate that being impulsive in negative situations and having difficulties changing mental sets increase the susceptibility for unhealthy weight development. Reducing impulsivity and training cognitive flexibility seem promising targets for the prevention and intervention programs of obesity.International Journal of Obesity accepted article preview online, 01 November 2017. doi:10.1038/ijo.2017.270.
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  • Danner, L., et al. (författare)
  • Dynamic viscosity levels of dry red and white wines and determination of perceived viscosity difference thresholds
  • 2019
  • Ingår i: American Journal of Enology and Viticulture. - : American Society for Enology and Viticulture. - 0002-9254 .- 1943-7749. ; 70:2, s. 205-211
  • Tidskriftsartikel (refereegranskat)abstract
    • Wine mouthfeel significantly contributes to the overall sensory perception and quality of wines. However, the influence of dynamic viscosity on the mouthfeel of dry table wines is still not fully understood. The three objectives of this study were to 1) determine the perceived viscosity difference threshold in wine using wine/xanthan gum solutions, 2) measure dynamic viscosity levels of Australian commercial dry Shiraz and Chardonnay table wines, and 3) investigate in wine samples the relationship between dynamic viscosity and chemical parameters, specifically, residual sugar, ethanol, and pH. A wine viscosity difference threshold value of 0.138 mPa·sec at 20°C was determined by ascending two-alternative forced-choice difference threshold tests with a sensory panel (n = 45). The dynamic viscosity for 34 commercial Chardonnay wines at 20°C ranged from 1.448 mPa·sec to 1.529 mPa·sec, and from 1.488 mPa·sec to 1.695 mPa·sec for 29 Shiraz wines. These results indicate that on the basis of the determined threshold values, tasters could likely differentiate wines in terms of viscosity within the viscosity range of this sample set of Shiraz, but not Chardonnay, wines. Furthermore, significant correlations between dynamic viscosity and ethanol concentration, but not for pH and residual sugar, were found for both varieties, indicating that ethanol may have been the main compositional factor that increased dynamic viscosity in commercial dry wines.
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  • Fischbach, M., et al. (författare)
  • The influence of peritoneal surface area on dialysis adequacy
  • 2005
  • Ingår i: Perit Dial Int. - 0896-8608. ; 25 Suppl 3
  • Tidskriftsartikel (refereegranskat)abstract
    • In children, the prescription of peritoneal dialysis is based mainly on the choice of the peritoneal dialysis fluid, the intraperitoneal fill volume (mL/m2 body surface area (BSA)], and the contact time. The working mode of the peritoneal membrane as a dialysis membrane is more related to a dynamic complex structure than to a static hemodialyzer. Thus, the peritoneal surface area impacts on dialysis adequacy. In fact, the peritoneal surface area may be viewed as composed of three exchange entities: the anatomic area, the contact area, and the vascular area. First, in infants, the anatomic area appears to be two-fold larger than in adults when expressed per kilogram body weight. On the other hand, the anatomic area becomes independent of age when expressed per square meter BSA. Therefore, scaling of the intraperitoneal fill volume by BSA (m2) is necessary to prevent a too low ratio of fill volume to exchange area, which would result in a functional "hyperpermeable" peritoneal exchange. Second, the contact area, also called the wetted membrane, is only a portion of the anatomic area, representing 30% to 60% of this area in humans, as measured by computed tomography. Both posture and fill volume may affect the extent of recruitment of contact area. Finally, the vascular area is influenced by the availability of both the anatomic area and the recruited contact area. This surface is governed essentially by both peritonealvascular perfusion, represented by the mesenteric vascular flow and, hence, by the number of perfused capillaries available for exchange. This vascular area is dynamically affected by different factors, such as composition of the peritoneal fluid, the fill volume, and the production of inflammatory agents. Peritoneal dialysis fluids that will be developed in the future for children should allow an optimization of the fill volume owing to a better tolerance in terms of lower achieved intraperitoneal pressure for a given fill volume. Moreover, future peritoneal dialysis fluids should protect the peritoneal membrane from hyperperfusion (lower glucose degradation products).
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  • Fischbach, M., et al. (författare)
  • The peritoneal membrane: a dynamic dialysis membrane in children
  • 2003
  • Ingår i: Adv Perit Dial. ; 19, s. 265-8
  • Tidskriftsartikel (refereegranskat)abstract
    • Peritoneal dialysis prescription in children should be individualized--based not only on numerical targets (Kt/Vurea, Kcreat), but also on consideration of the peritoneal membrane, a dynamic dialysis membrane. In fact, the effective peritoneal surface area is at least a triple entity: an anatomic area, a contact area, and an exchange area. The anatomic area appears to be twice as large in infants as in adults if expressed per kilogram of body weight (BW), although the area is independent of age if expressed per square meter of body surface area (BSA). Therefore, scaling of the intraperitoneal fill volume (IPV) by BSA in square meters is necessary to avoid a low IPV/area ratio, which results in a functionally "hyperpermeable" peritoneal exchange. The contact area (the wetted membrane) is only a fraction of the anatomic area--that is, 30%-60% in humans (by computed tomography). Contact area depends on a variety of factors, such as posture and fill volume, that affect the degree of recruitment of membrane contact area. The exchange area is influenced by both the anatomic are and the contact area. However, it is mainly governed by the specific vascular area as determined by the peritoneal vascular perfusion and the capillaries available for exchange. Vascular area is dynamically affected by a variety of factors, such as the composition of the peritoneal dialysis fluid, the fill volume, and possible inflammatory agents.
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  • Niimi, Jun, et al. (författare)
  • Wine consumers' subjective responses to wine mouthfeel and understanding of wine body
  • 2017
  • Ingår i: Food Research International. - : Elsevier Ltd. - 0963-9969 .- 1873-7145. ; 99, s. 115-122
  • Tidskriftsartikel (refereegranskat)abstract
    • Wine mouthfeel is considered important for wine quality by experts, while consumers understanding of mouthfeel and the role of wine body in their wine choice is unknown. One experiment determined the influence of intrinsic wine mouthfeel on consumers' wine liking and emotions, and the other, how consumers understand the term wine body. The first experiment used a 2 astringency level × 2 body level experimental design. The samples were base wine with; nothing added (control), added xanthan gum (for increased body), added grape seed extract (GSE, for increased astringency), and with both added xanthan gum and GSE. The consumer taste trial (n = 112) indicated that wine with increased body did not influence wine liking and emotions; while increased astringency decreased liking and elicited more intense negative emotions. The second experiment examined consumers' knowledge of wine body through an online survey (n = 136). Consumers described wine body most frequently using words such as flavour, fullness, and strength. Wine body was therefore understood by consumers predominantly as a holistic multi-sensory perception of flavour. Wine flavour was indicated by consumers to be the most important factor driving purchase decisions followed by balance of flavours and wine body. It is crucial that wine professionals carefully communicate wine characteristics to consumers to prevent possible misunderstandings such as the meaning of wine body and as a result better meet consumer expectations. In future, the term body may benefit from a clearer definition for academic research as well as industry.  
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  • Niimi, Jun, et al. (författare)
  • Wine leads us by our heart not our head : emotions and the wine consumer
  • 2019
  • Ingår i: Current Opinion in Food Science. - : Elsevier Ltd. - 2214-7993 .- 2214-8000. ; 27, s. 23-28
  • Tidskriftsartikel (refereegranskat)abstract
    • The fundamental purpose of wine consumption is for enjoyment. There are deep emotional connections between consumers and wine, and it is usually imbibed in social settings. Consumers’ emotions evoked by wine, as well as from external factors during wine consumption, have valuable implications for consumer science and industry. Current perspectives on emotions and wine research are examined with a focus on the role of wine intrinsic and extrinsic factors on consumers’ wine-evoked emotions. Future directions of where wine emotions research may head will be explored. 
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25.
  • Verharen, J. P. H., et al. (författare)
  • Insensitivity to Losses: A Core Feature in Patients With Anorexia Nervosa?
  • 2019
  • Ingår i: Biological Psychiatry: Cognitive Neuroscience and Neuroimaging. - : Elsevier BV. - 2451-9022.
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Patients with anorexia nervosa (AN) demonstrate aberrations in choice behavior, including impairments in laboratory measures of decision making. Although a wealth of studies suggest that these aberrations arise from alterations in value processing, it remains unclear by which core component of value processing this is mediated. Methods: We fit trial-by-trial data of patients with AN (n = 60 first cohort, n = 216 second cohort) and healthy control participants (n = 55) performing the Iowa Gambling Task to a computational model based on prospect utility theory. We determined, per participant, the best-fit model parameters and compared these between the groups. Results: Analyses revealed a decreased estimate of model parameter λ in patients with AN, indicative of an attenuation of loss-aversive behavior in the Iowa Gambling Task. In comparison, measures of reward sensitivity, value-based learning, and exploration versus exploitation were unaltered in patients with AN. A measurement in a second independent cohort replicated the finding that loss aversion, typically observed in healthy individuals, is reduced in patients with AN. Conclusions: We show that patients with AN, in contrast to healthy control participants, demonstrate reduced loss-aversive behavior. This finding provides important fundamental insights into the decision-making capacity of patients with AN, suggesting alterations in the mechanisms involved in value processing related to negative feedback. © 2019
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