SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Murcia M.) "

Sökning: WFRF:(Murcia M.)

  • Resultat 1-50 av 64
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
1.
  •  
2.
  • 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.
  •  
3.
  • Adam, A, et al. (författare)
  • Abstracts from Hydrocephalus 2016.
  • 2017
  • Ingår i: Fluids and Barriers of the CNS. - : Springer Science and Business Media LLC. - 2045-8118. ; 14:Suppl 1
  • Tidskriftsartikel (refereegranskat)
  •  
4.
  •  
5.
  •  
6.
  • 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.
  •  
7.
  • 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.
  •  
8.
  •  
9.
  •  
10.
  • Mullins, Niamh, et al. (författare)
  • Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors
  • 2022
  • Ingår i: Biological Psychiatry. - : Elsevier. - 0006-3223 .- 1873-2402. ; 91:3, s. 313-327
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders.METHODS: We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors.RESULTS: Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged.CONCLUSIONS: Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders.
  •  
11.
  •  
12.
  • Docherty, Anna R, et al. (författare)
  • GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.
  • 2023
  • Ingår i: The American journal of psychiatry. - : American Psychiatric Association Publishing. - 1535-7228 .- 0002-953X. ; 180:10, s. 723-738
  • Tidskriftsartikel (refereegranskat)abstract
    • Suicidal behavior is heritable and is a major cause of death worldwide. Two large-scale genome-wide association studies (GWASs) recently discovered and cross-validated genome-wide significant (GWS) loci for suicide attempt (SA). The present study leveraged the genetic cohorts from both studies to conduct the largest GWAS meta-analysis of SA to date. Multi-ancestry and admixture-specific meta-analyses were conducted within groups of significant African, East Asian, and European ancestry admixtures.This study comprised 22 cohorts, including 43,871 SA cases and 915,025 ancestry-matched controls. Analytical methods across multi-ancestry and individual ancestry admixtures included inverse variance-weighted fixed-effects meta-analyses, followed by gene, gene-set, tissue-set, and drug-target enrichment, as well as summary-data-based Mendelian randomization with brain expression quantitative trait loci data, phenome-wide genetic correlation, and genetic causal proportion analyses.Multi-ancestry and European ancestry admixture GWAS meta-analyses identified 12 risk loci at p values <5×10-8. These loci were mostly intergenic and implicated DRD2, SLC6A9, FURIN, NLGN1, SOX5, PDE4B, and CACNG2. The multi-ancestry SNP-based heritability estimate of SA was 5.7% on the liability scale (SE=0.003, p=5.7×10-80). Significant brain tissue gene expression and drug set enrichment were observed. There was shared genetic variation of SA with attention deficit hyperactivity disorder, smoking, and risk tolerance after conditioning SA on both major depressive disorder and posttraumatic stress disorder. Genetic causal proportion analyses implicated shared genetic risk for specific health factors.This multi-ancestry analysis of suicide attempt identified several loci contributing to risk and establishes significant shared genetic covariation with clinical phenotypes. These findings provide insight into genetic factors associated with suicide attempt across ancestry admixture populations, in veteran and civilian populations, and in attempt versus death.
  •  
13.
  • Warrington, N M, et al. (författare)
  • Maternal and fetal genetic contribution to gestational weight gain.
  • 2018
  • Ingår i: International journal of obesity. - : Springer Science and Business Media LLC. - 1476-5497 .- 0307-0565. ; 42:4, s. 775-84
  • Tidskriftsartikel (refereegranskat)abstract
    • Clinical recommendations to limit gestational weight gain (GWG) imply high GWG is causally related to adverse outcomes in mother or offspring, but GWG is the sum of several inter-related complex phenotypes (maternal fat deposition and vascular expansion, placenta, amniotic fluid and fetal growth). Understanding the genetic contribution to GWG could help clarify the potential effect of its different components on maternal and offspring health. Here we explore the genetic contribution to total, early and late GWG.A genome-wide association study was used to identify maternal and fetal variants contributing to GWG in up to 10543 mothers and 16317 offspring of European origin, with replication in 10660 mothers and 7561 offspring. Additional analyses determined the proportion of variability in GWG from maternal and fetal common genetic variants and the overlap of established genome-wide significant variants for phenotypes relevant to GWG (for example, maternal body mass index (BMI) and glucose, birth weight).Approximately 20% of the variability in GWG was tagged by common maternal genetic variants, and the fetal genome made a surprisingly minor contribution to explain variation in GWG. Variants near the pregnancy-specific beta-1 glycoprotein 5 (PSG5) gene reached genome-wide significance (P=1.71 × 10-8) for total GWG in the offspring genome, but did not replicate. Some established variants associated with increased BMI, fasting glucose and type 2 diabetes were associated with lower early, and higher later GWG. Maternal variants related to higher systolic blood pressure were related to lower late GWG. Established maternal and fetal birth weight variants were largely unrelated to GWG.We found a modest contribution of maternal common variants to GWG and some overlap of maternal BMI, glucose and type 2 diabetes variants with GWG. These findings suggest that associations between GWG and later offspring/maternal outcomes may be due to the relationship of maternal BMI and diabetes with GWG.International Journal of Obesity advance online publication, 21 November 2017; doi:10.1038/ijo.2017.248.
  •  
14.
  • Wang, Li-San, et al. (författare)
  • Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States.
  • 2015
  • Ingår i: JAMA neurology. - : American Medical Association (AMA). - 2168-6157 .- 2168-6149. ; 72:2
  • Tidskriftsartikel (refereegranskat)abstract
    • Recently, a rare variant in the amyloid precursor protein gene (APP) was described in a population from Iceland. This variant, in which alanine is replaced by threonine at position 673 (A673T), appears to protect against late-onset Alzheimer disease (AD). We evaluated the frequency of this variant in AD cases and cognitively normal controls to determine whether this variant will significantly contribute to risk assessment in individuals in the United States.
  •  
15.
  •  
16.
  • Middeldorp, C. M., et al. (författare)
  • A Genome-Wide Association Meta-Analysis of Attention-Deficit/Hyperactivity Disorder Symptoms in Population-Based Pediatric Cohorts
  • 2016
  • Ingår i: Journal of the American Academy of Child and Adolescent Psychiatry. - : Elsevier BV. - 0890-8567. ; 55:10
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective The aims of this study were to elucidate the influence of common genetic variants on childhood attention-deficit/hyperactivity disorder (ADHD) symptoms, to identify genetic variants that explain its high heritability, and to investigate the genetic overlap of ADHD symptom scores with ADHD diagnosis. Method Within the EArly Genetics and Lifecourse Epidemiology (EAGLE) consortium, genome-wide single nucleotide polymorphisms (SNPs) and ADHD symptom scores were available for 17,666 children (<13 years of age) from nine population-based cohorts. SNP-based heritability was estimated in data from the three largest cohorts. Meta-analysis based on genome-wide association (GWA) analyses with SNPs was followed by gene-based association tests, and the overlap in results with a meta-analysis in the Psychiatric Genomics Consortium (PGC) case-control ADHD study was investigated. Results SNP-based heritability ranged from 5% to 34%, indicating that variation in common genetic variants influences ADHD symptom scores. The meta-analysis did not detect genome-wide significant SNPs, but three genes, lying close to each other with SNPs in high linkage disequilibrium (LD), showed a gene-wide significant association (p values between 1.46× 10−6 and 2.66× 10−6). One gene, WASL, is involved in neuronal development. Both SNP- and gene-based analyses indicated overlap with the PGC meta-analysis results with the genetic correlation estimated at 0.96. Conclusion The SNP-based heritability for ADHD symptom scores indicates a polygenic architecture, and genes involved in neurite outgrowth are possibly involved. Continuous and dichotomous measures of ADHD appear to assess a genetically common phenotype. A next step is to combine data from population-based and case-control cohorts in genetic association studies to increase sample size and to improve statistical power for identifying genetic variants. © 2016 American Academy of Child and Adolescent Psychiatry
  •  
17.
  •  
18.
  •  
19.
  •  
20.
  • Vardavas, CI, et al. (författare)
  • The independent role of prenatal and postnatal exposure to active and passive smoking on the development of early wheeze in children
  • 2016
  • Ingår i: The European respiratory journal. - : European Respiratory Society (ERS). - 1399-3003 .- 0903-1936. ; 48:1, s. 115-124
  • Tidskriftsartikel (refereegranskat)abstract
    • Maternal smoking during pregnancy increases childhood asthma risk, but health effects in children of nonsmoking mothers passively exposed to tobacco smoke during pregnancy are unclear. We examined the association of maternal passive smoking during pregnancy and wheeze in children aged ≤2 years.Individual data of 27 993 mother–child pairs from 15 European birth cohorts were combined in pooled analyses taking into consideration potential confounders.Children with maternal exposure to passive smoking during pregnancy and no other smoking exposure were more likely to develop wheeze up to the age of 2 years (OR 1.11, 95% CI 1.03–1.20) compared with unexposed children. Risk of wheeze was further increased by children's postnatal passive smoke exposure in addition to their mothers' passive exposure during pregnancy (OR 1.29, 95% CI 1.19–1.40) and highest in children with both sources of passive exposure and mothers who smoked actively during pregnancy (OR 1.73, 95% CI 1.59–1.88). Risk of wheeze associated with tobacco smoke exposure was higher in children with an allergic versus nonallergic family history.Maternal passive smoking exposure during pregnancy is an independent risk factor for wheeze in children up to the age of 2 years. Pregnant females should avoid active and passive exposure to tobacco smoke for the benefit of their children's health.
  •  
21.
  • 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.
  •  
22.
  • Contreras, ZA, et al. (författare)
  • Does early onset asthma increase childhood obesity risk? A pooled analysis of 16 European cohorts
  • 2018
  • Ingår i: The European respiratory journal. - : European Respiratory Society (ERS). - 1399-3003 .- 0903-1936. ; 52:3
  • Tidskriftsartikel (refereegranskat)abstract
    • The parallel epidemics of childhood asthma and obesity over the past few decades have spurred research into obesity as a risk factor for asthma. However, little is known regarding the role of asthma in obesity incidence. We examined whether early-onset asthma and related phenotypes are associated with the risk of developing obesity in childhood.This study includes 21 130 children born from 1990 to 2008 in Denmark, France, Germany, Greece, Italy, The Netherlands, Spain, Sweden and the UK. We followed non-obese children at 3–4 years of age for incident obesity up to 8 years of age. Physician-diagnosed asthma, wheezing and allergic rhinitis were assessed up to 3–4 years of age.Children with physician-diagnosed asthma had a higher risk for incident obesity than those without asthma (adjusted hazard ratio (aHR) 1.66, 95% CI 1.18–2.33). Children with active asthma (wheeze in the last 12 months and physician-diagnosed asthma) exhibited a higher risk for obesity (aHR 1.98, 95% CI 1.31–3.00) than those without wheeze and asthma. Persistent wheezing was associated with increased risk for incident obesity compared to never wheezers (aHR 1.51, 95% CI 1.08–2.09).Early-onset asthma and wheezing may contribute to an increased risk of developing obesity in later childhood.
  •  
23.
  •  
24.
  • Mantzouki, Evanthia, et al. (författare)
  • Temperature Effects Explain Continental Scale Distribution of Cyanobacterial Toxins
  • 2018
  • Ingår i: Toxins. - : MDPI. - 2072-6651. ; 10:4
  • Tidskriftsartikel (refereegranskat)abstract
    • Insight into how environmental change determines the production and distribution of cyanobacterial toxins is necessary for risk assessment. Management guidelines currently focus on hepatotoxins (microcystins). Increasing attention is given to other classes, such as neurotoxins (e.g., anatoxin-a) and cytotoxins (e.g., cylindrospermopsin) due to their potency. Most studies examine the relationship between individual toxin variants and environmental factors, such as nutrients, temperature and light. In summer 2015, we collected samples across Europe to investigate the effect of nutrient and temperature gradients on the variability of toxin production at a continental scale. Direct and indirect effects of temperature were the main drivers of the spatial distribution in the toxins produced by the cyanobacterial community, the toxin concentrations and toxin quota. Generalized linear models showed that a Toxin Diversity Index (TDI) increased with latitude, while it decreased with water stability. Increases in TDI were explained through a significant increase in toxin variants such as MC-YR, anatoxin and cylindrospermopsin, accompanied by a decreasing presence of MC-LR. While global warming continues, the direct and indirect effects of increased lake temperatures will drive changes in the distribution of cyanobacterial toxins in Europe, potentially promoting selection of a few highly toxic species or strains.
  •  
25.
  •  
26.
  •  
27.
  • Donis, Daphne, et al. (författare)
  • Stratification strength and light climate explain variation in chlorophyll a at the continental scale in a European multilake survey in a heatwave summer
  • 2021
  • Ingår i: Limnology and Oceanography. - : John Wiley & Sons. - 0024-3590 .- 1939-5590. ; 66:12, s. 4314-4333
  • Tidskriftsartikel (refereegranskat)abstract
    • To determine the drivers of phytoplankton biomass, we collected standardized morphometric, physical, and biological data in 230 lakes across the Mediterranean, Continental, and Boreal climatic zones of the European continent. Multilinear regression models tested on this snapshot of mostly eutrophic lakes (median total phosphorus [TP] = 0.06 and total nitrogen [TN] = 0.7 mg L-1), and its subsets (2 depth types and 3 climatic zones), show that light climate and stratification strength were the most significant explanatory variables for chlorophyll a (Chl a) variance. TN was a significant predictor for phytoplankton biomass for shallow and continental lakes, while TP never appeared as an explanatory variable, suggesting that under high TP, light, which partially controls stratification strength, becomes limiting for phytoplankton development. Mediterranean lakes were the warmest yet most weakly stratified and had significantly less Chl a than Boreal lakes, where the temperature anomaly from the long-term average, during a summer heatwave was the highest (+4 degrees C) and showed a significant, exponential relationship with stratification strength. This European survey represents a summer snapshot of phytoplankton biomass and its drivers, and lends support that light and stratification metrics, which are both affected by climate change, are better predictors for phytoplankton biomass in nutrient-rich lakes than nutrient concentrations and surface temperature.
  •  
28.
  • Jimenez-Murcia, S, et al. (författare)
  • Gambling Habits in Spanish Women
  • 2017
  • Ingår i: JOURNAL OF BEHAVIORAL ADDICTIONS. - 2062-5871. ; 6, s. 22-22
  • Konferensbidrag (övrigt vetenskapligt/konstnärligt)
  •  
29.
  •  
30.
  •  
31.
  •  
32.
  • Soler-Blasco, R., et al. (författare)
  • Influence of genetic polymorphisms on arsenic methylation efficiency during pregnancy: Evidence from a Spanish birth cohort
  • 2023
  • Ingår i: Science of the Total Environment. - 0048-9697. ; 900
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Inorganic arsenic (iAs) is a widespread toxic metalloid. It is well-known that iAs metabolism and its toxicity are mediated by polymorphisms in AS3MT and other genes. However, studies during pregnancy are scarce. We aimed to examine the role of genetic polymorphisms in AS3MT, GSTO2, N6AMT1, MTHFR, MTR, FTCD, CBS, and FOLH1 in iAs methylation efficiency during pregnancy.Methods: The study included 541 pregnant participants from the INMA (Environment and Childhood) Spanish cohort. Using high-performance liquid chromatography coupled to inductively coupled plasma-tandem mass, we measured arsenic (iAs and the metabolites monomethylarsonic acid (MMA) and dimethylarsinic acid (DMA)) in urine samples collected during the first trimester. iAs methylation efficiency was determined based on relative concentrations of the As metabolites in urine (%MMA, %DMA, and %iAs). Thirty-two single nucleotide poly-morphisms (SNPs) in nine genes were determined in maternal DNA; AS3MT haplotypes were inferred. We assessed the association between genotypes/haplotypes and maternal As methylation efficiency using multi-variate linear regression models. Results: The median %MMA and %DMA were 5.3 %, and 89 %, respectively. Ancestral alleles of AS3MT SNPs (rs3740393, rs3740390, rs11191453, and rs11191454) were significantly associated with higher %MMA, %iAs, and lower %DMA. Pregnant participants with zero copies of the GGCTTCAC AS3MT haplotype presented a higher%MMA. Statistically significant associations were also found for the FOLH1 SNP rs202676 (& beta; 0.89 95%CI: 0.24, 1.55 for carriers of the G allele vs. the A allele).Conclusions: Our study shows that ancestral alleles in AS3MT polymorphisms were associated with lower As methylation efficiency in early pregnancy and suggests that FOLH1 also plays a role in As methylation efficiency. These results support the hypothesis that As metabolism is multigenic, being a key element for identifying susceptible populations.
  •  
33.
  •  
34.
  •  
35.
  • Baenas, Isabel, et al. (författare)
  • Impact of COVID-19 Lockdown in Eating Disorders : A Multicentre Collaborative International Study
  • 2022
  • Ingår i: Nutrients. - : MDPI AG. - 2072-6643. ; 14:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Background. The COVID-19 lockdown has had a significant impact on mental health. Patients with eating disorders (ED) have been particularly vulnerable. Aims. (1) To explore changes in eating-related symptoms and general psychopathology during lockdown in patients with an ED from various European and Asian countries; and (2) to assess differences related to diagnostic ED subtypes, age, and geography. Methods. The sample comprised 829 participants, diagnosed with an ED according to DSM-5 criteria from specialized ED units in Europe and Asia. Participants were assessed using the COVID-19 Isolation Scale (CIES). Results. Patients with binge eating disorder (BED) experienced the highest impact on weight and ED symptoms in comparison with other ED subtypes during lockdown, whereas individuals with other specified feeding and eating disorders (OFSED) had greater deterioration in general psychological functioning than subjects with other ED subtypes. Finally, Asian and younger individuals appeared to be more resilient. Conclusions. The psychopathological changes in ED patients during the COVID-19 lockdown varied by cultural context and individual variation in age and ED diagnosis. Clinical services may need to target preventive measures and adapt therapeutic approaches for the most vulnerable patients.
  •  
36.
  • Chavez-Caiza, J., et al. (författare)
  • Unveiling the effect of sacrificial agent amount in the CO2 photoreduction performed in a flow reactor
  • 2024
  • Ingår i: Journal of CO2 Utilization. - : Elsevier BV. - 2212-9820 .- 2212-9839. ; 83
  • Tidskriftsartikel (refereegranskat)abstract
    • The use of sacrificial agents in photocatalysis is a powerful resource to enhance the performance of photoactive materials. Despite its importance, the effect of the amount of sacrificial agent is not properly described in the literature. In this paper, we have focused on the role of EtOH in the photoreduction of CO2 to CH4 using Cu-P25 photocatalysts in a flow reactor. We found that the production of CH4 increased with the concentration of EtOH, achieving an outstanding CH4 production yield of 235 mu mol/(g & sdot;h) for a flow of 0.25 mu mol/min of EtOH in the gas stream, hinting at the important role of the sacrificial agent in the reaction. The catalytic results together with the characterization of the materials highlight the need to achieve a minimum surface coverage of EtOH on the surface of the catalyst to control the reaction pathway. The adsorption of EtOH is a key factor in boosting the catalytic activity of the best-performing catalyst and producing CH4 from CO2 photoreduction and C2H4O from the photooxidation of EtOH, obtaining two easily separable interesting products for industrial applications in one reaction.
  •  
37.
  •  
38.
  • García-Diz, Luis, et al. (författare)
  • Assessing nutritional status of acute intermittent porphyria patients
  • 2012
  • Ingår i: European Journal of Clinical Investigation. - : Wiley-Blackwell. - 0014-2972 .- 1365-2362. ; 42:9, s. 943-952
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Acute intermittent porphyria (AIP) is a metabolic disease of haem synthesis, whose haem precursors may accumulate in the body. A well-balanced diet may prevent the symptoms, so that porphyric patients should be monitored closely during therapy for possible complications concerning any progression of acute porphyria. The aim was to evaluate the nutritional status of patients with AIP and to assess their compliance with nutritional recommendations, comparing the findings with a control group and assessing any possible nutritional deficiency.MATERIAL AND METHODS: Sixteen patients with AIP and a control group were evaluated by means of a lifestyle questionnaire, the Nutrition Screening Initiative checklist and a dietary questionnaire. The following diet quality indicators were calculated: animal and vegetal proteins, protein quality index, PUFA/SFA and MUFA + PUFA/SFA ratios, insoluble dietary fibre (DF)/total DF, soluble DF/total DF and insoluble DF/soluble DF ratios, thiamine, riboflavin and niacin density and the vitamin B6/protein ratio.STATISTICAL METHODS: Differences in continuous variables were compared using the unpaired Student's t-test and the chi-square test for nonparametric variables. The odds ratio (OR) of malnutrition was also used.RESULTS: Our patients showed a low intake of carbohydrates, a high lipid intake and very high protein intake, and accompanied by an inadequate intake of zinc, folic acid and tocopherol, increasing the risk of malnutrition for energy, Ca, Fe, Mg, K, folic acid and tocopherols.CONCLUSIONS: The patients with AIP studied individually show an increased risk of malnutrition and, given the potential increase of oxidative stress in patients with porphyria, it is recommended that they should increase their intake of carbohydrates, minerals and antioxidant nutrients.
  •  
39.
  • Hernandez-Elizondo, J., et al. (författare)
  • Assessment of the estrogenicity of the diet of a healthy female Spanish population based on its isoflavone content
  • 2013
  • Ingår i: Food Additives & Contaminants. - : Taylor & Francis Group. - 1944-0049 .- 1944-0057. ; 30:4, s. 627-633
  • Tidskriftsartikel (refereegranskat)abstract
    • Phytoestrogens are natural components of plants consumed by humans. The hormonal activity of these substances has long been known. Various in vitro tests have demonstrated the agonistic or antagonistic estrogenic activity of some phytoestrogens. The objective of this study was to estimate the supply of isoflavones in the diet of a healthy adult female population and to assess its estrogenic effect. The diet was assessed by questionnaire and the estrogenicity of the estimated isoflavone content was tested by E-screen, finding a mean total estrogenic capacity of 0.129 × 10⁻¹⁰ eq.E₂ (12.9 pmol day⁻¹), corresponding to a daily isoflavone intake of 265.8 μg day⁻¹. This study offers a preliminary insight into the phytoestrogen content of the diet of a healthy active population of Spanish women. The effects of this additional hormonal burden are highly controversial, and this approach to estimating dietary phytoestrogen intake of specific populations may help to elucidate its implications for human health.
  •  
40.
  • Mariscal-Arcas, M., et al. (författare)
  • Dietary exposure assessment of pregnant women to bisphenol-A from cans and microwave containers in Southern Spain
  • 2009
  • Ingår i: Food and Chemical Toxicology. - : Elsevier. - 0278-6915 .- 1873-6351. ; 47:2, s. 506-510
  • Tidskriftsartikel (refereegranskat)abstract
    • Bisphenol-A (BPA), material for polycarbonate and epoxy resin synthesis, has been detected in canned food, among other food containers. In mammal studies, BPA transferred from mother to fetus, caused abnormality of reproductive organs, and advanced female puberty. BPA from canned food and microwave containers was analyzed using high performance liquid chromatography and gas chromatography-mass spectrometry. Population was cohort of mother-son pairs established at Granada University Hospital. Frequency of food consumption (including canned food) was studied with a semi-quantitative questionnaire. The most frequently consumed products were fish and juice cans, consumed 1-3 times/week by 34.7% and 22.3% of the study population, respectively. The women made little use of polymer microwave containers, 52.8% never using them and 45.9% using them <3 times/month. Estimated mean (standard deviation) intake of BPA was 1.1(0.839) microgram/day. No relationship was found between BPA exposure and maternal socio-demographic variables or newborn characteristics. This study offers the first estimate of BPA dietary intake by pregnant women in Southern Spain. The consumption of canned foods and drinks by these women means that their exposure was lower than EFSA estimates for the European population. Nevertheless it remains of concern, given the proven undesirable effects of low-level exposure and higher susceptibility of pregnant women.
  •  
41.
  • Sauvaget, Anne, et al. (författare)
  • A comparison of treatment-seeking behavioral addiction patients with and without Parkinson's disease
  • 2017
  • Ingår i: Frontiers in Psychiatry. - : Frontiers Media SA. - 1664-0640. ; 8:NOV
  • Tidskriftsartikel (refereegranskat)abstract
    • The administration of dopaminergic medication to treat the symptoms of Parkinson's disease (PD) is associated with addictive behaviors and impulse control disorders. Little is known, however, on how PD patients differ from other patients seeking treatments for behavioral addictions. The aim of this study was to compare the characteristics of behavioral addiction patients with and without PD. N = 2,460 treatment-seeking men diagnosed with a behavioral addiction were recruited from a university hospital. Sociodemographic, impulsivity [Barratt Impulsiveness Scale (BIS-11)], and personality [Temperament and Character Inventory-Revised (TCI-R)] measures were taken upon admission to outpatient treatment. Patients in the PD group were older and had a higher prevalence of mood disorders than patients without PD. In terms of personality characteristics and impulsivity traits, PD patients appeared to present a more functional profile than PD-free patients with a behavioral addiction. Our results suggest that PD patients with a behavioral addiction could be more difficult to detect than their PD-free counterparts in behavioral addiction clinical setting due to their reduced levels of impulsivity and more standard personality traits. As a whole, this suggests that PD patients with a behavioral addiction may have different needs from PD-free behavioral addiction patients and that they could potentially benefit from targeted interventions.
  •  
42.
  •  
43.
  • Weiskopf, Sarah R., et al. (författare)
  • A Conceptual Framework to Integrate Biodiversity, Ecosystem Function, and Ecosystem Service Models
  • 2022
  • Ingår i: BioScience. - : Oxford University Press (OUP). - 0006-3568 .- 1525-3244. ; 72:11, s. 1062-1073
  • Tidskriftsartikel (refereegranskat)abstract
    • Global biodiversity and ecosystem service models typically operate independently. Ecosystem service projections may therefore be overly optimistic because they do not always account for the role of biodiversity in maintaining ecological functions. We review models used in recent global model intercomparison projects and develop a novel model integration framework to more fully account for the role of biodiversity in ecosystem function, a key gap for linking biodiversity changes to ecosystem services. We propose two integration pathways. The first uses empirical data on biodiversity–ecosystem function relationships to bridge biodiversity and ecosystem function models and could currently be implemented globally for systems and taxa with sufficient data. We also propose a trait-based approach involving greater incorporation of biodiversity into ecosystem function models. Pursuing both approaches will provide greater insight into biodiversity and ecosystem services projections. Integrating biodiversity, ecosystem function, and ecosystem service modeling will enhance policy development to meet global sustainability goals. 
  •  
44.
  •  
45.
  • Baenas, Isabel, et al. (författare)
  • Does Confinement Affect Treatment Dropout Rates in Patients With Gambling Disorder? A Nine-Month Observational Study
  • 2021
  • Ingår i: Frontiers in Psychology. - : Frontiers Media SA. - 1664-1078. ; 12
  • Tidskriftsartikel (refereegranskat)abstract
    • Background and Aims: COVID-19 pandemic and confinement have represented a challenge for patients with gambling disorder (GD). Regarding treatment outcome, dropout may have been influenced by these adverse circumstances. The aims of this study were: (a) to analyze treatment dropout rates in patients with GD throughout two periods: during and after the lockdown and (b) to assess clinical features that could represent vulnerability factors for treatment dropout. Methods: The sample consisted of n=86 adults, mostly men (n=79, 91.9%) and with a mean age of 45years old (SD=16.85). Patients were diagnosed with GD according to DSM-5 criteria and were undergoing therapy at a Behavioral Addiction Unit when confinement started. Clinical data were collected through a semi-structured interview and protocolized psychometric assessment. A brief telephone survey related to COVID-19 concerns was also administered at the beginning of the lockdown. Dropout data were evaluated at two moments throughout a nine-month observational period (T1: during the lockdown, and T2: after the lockdown). Results: The risk of dropout during the complete observational period was R=32/86=0.372 (37.2%), the Incidence Density Rate (IDR) ratio T2/T1 being equal to 0.052/0.033=1.60 (p=0.252). Shorter treatment duration (p=0.007), lower anxiety (p=0.025), depressive symptoms (p=0.045) and lower use of adaptive coping strategies (p=0.046) characterized patients who abandoned treatment during the lockdown. Briefer duration of treatment (p=0.001) and higher employment concerns (p=0.044) were highlighted in the individuals who dropped out after the lockdown. Treatment duration was a predictor of dropout in both periods (p=0.005 and p<0.001, respectively). Conclusion: The present results suggest an impact of the COVID-19 pandemic on treatment dropout among patients with GD during and after the lockdown, being treatment duration a predictor of dropout. Assessing vulnerability features in GD may help clinicians identify high-risk individuals and enhance prevention and treatment approaches in future similar situations.
  •  
46.
  •  
47.
  • Del Pino-Gutiérrez, Amparo, et al. (författare)
  • Impact of alcohol consumption on clinical aspects of gambling disorder.
  • 2017
  • Ingår i: International Journal of Mental Health Nursing. - : Wiley. - 1447-0349 .- 1445-8330. ; 26:2, s. 121-128
  • Tidskriftsartikel (refereegranskat)abstract
    • Similarities between gambling disorder and substance use disorders have been extensively described. To date, however, few studies using large clinical samples have been carried out that reliably assess the relationship between different levels of alcohol consumption and gambling disorders. The present study aimed to assess the impact of baseline alcohol consumption levels on the clinical profile in a large sample of treatment-seeking individuals. Nine hundred and fifty-one consecutive outpatients diagnosed with gambling disorder according to DSM-IV criteria were compared after being included in three alcohol consumption groups (low risk, abuse and risk of dependence) based on their total raw scores on the AUDIT questionnaire. Results showed a high prevalence of risk of alcohol dependence in GD patients who were immigrants, unemployed, and had a low level of education. A positive linear trend was also found between alcohol consumption level and the prevalence of other current and life-time comorbid mental disorders, and for the presence of drug abuse. Statistically significant differences were found between the three alcohol consumption groups in terms of the evolution and severity of the gambling disorder, self-directedness personality trait, and levels of general psychopathology, hostility and paranoid ideation. In conclusion, the results showed an association between increased alcohol consumption and greater dysfunction.
  •  
48.
  • Del Pino-Gutiérrez, Amparo, et al. (författare)
  • The relevance of personality traits in impulsivity-related disorders : From substance use disorders and gambling disorder to bulimia nervosa
  • 2017
  • Ingår i: Journal of Behavioral Addictions. - : Akademiai Kiado Zrt.. - 2062-5871 .- 2063-5303. ; 6:3, s. 396-405
  • Tidskriftsartikel (refereegranskat)abstract
    • Background and aims: The main aim of this study was to analyze and describe the clinical characteristics and shared personality traits in different impulsivity-compulsivity spectrum disorders: substance use disorders (SUD), gambling disorder (GD), and bulimia nervosa (BN). The specific aims were to compare personality differences among individuals with pure SUD, BN with and without SUD, and GD with and without SUD. In addition, we assessed the differential predictive capacity of clinical and personality variables in relation to diagnostic subtype. Methods: The sample comprised 998 subjects diagnosed according to DSM-IV-TR criteria: 101 patients were diagnosed with SUD, 482 with GD, 359 with BN, 11 with GD + SUD, and 45 patients with BN + SUD. Various assessment instruments were administered, as well as other clinical measures, to evaluate their predictive capacity. Results: Marked differences in personality traits were observed between groups. Novelty seeking, harm avoidance, self-directedness, cooperation, and self-transcendence best differentiated the groups. Notably, novelty seeking was significantly higher in the two dual pathology subgroups. Patients with dual pathology showed the most dysfunctional personality profiles. Discussion and conclusion: Our results indicate the existence of shared dysfunctional personality traits among the groups studied, especially in novelty seeking and self-directedness.
  •  
49.
  • Dust, Lukas, et al. (författare)
  • Federated Fuzzy Learning with Imbalanced Data
  • 2021
  • Ingår i: Proceedings - 20th IEEE International Conference on Machine Learning and Applications, ICMLA 2021. - : Institute of Electrical and Electronics Engineers Inc.. - 9781665443371 ; , s. 1130-1137
  • Konferensbidrag (refereegranskat)abstract
    • Federated learning (FL) is an emerging and privacy-preserving machine learning technique that is shown to be increasingly important in the digital age. The two challenging issues for FL are: (1) communication overhead between clients and the server, and (2) volatile distribution of training data such as class imbalance. The paper aims to tackle these two challenges with the proposal of a federated fuzzy learning algorithm (FFLA) that can be used for data-based construction of fuzzy classification models in a distributed setting. The proposed learning algorithm is fast and highly cheap in communication by requiring only two rounds of interplay between the server and clients. Moreover, FFLA is empowered with an an imbalance adaptation mechanism so that it remains robust against heterogeneous distributions of data and class imbalance. The efficacy of the proposed learning method has been verified by the simulation tests made on a set of balanced and imbalanced benchmark data sets.
  •  
50.
  • Fernández-Aranda, Fernando, et al. (författare)
  • COVID Isolation Eating Scale (CIES) : Analysis of the impact of confinement in eating disorders and obesity—A collaborative international study
  • 2020
  • Ingår i: European Eating Disorders Review. - : Wiley. - 1072-4133 .- 1099-0968. ; 28:6, s. 871-883
  • Tidskriftsartikel (refereegranskat)abstract
    • Confinement during the COVID-19 pandemic is expected to have a serious and complex impact on the mental health of patients with an eating disorder (ED) and of patients with obesity. The present manuscript has the following aims: (1) to analyse the psychometric properties of the COVID Isolation Eating Scale (CIES), (2) to explore changes that occurred due to confinement in eating symptomatology; and (3) to explore the general acceptation of the use of telemedicine during confinement. The sample comprised 121 participants (87 ED patients and 34 patients with obesity) recruited from six different centres. Confirmatory Factor Analyses (CFA) tested the rational-theoretical structure of the CIES. Adequate goodness-of-fit was obtained for the confirmatory factor analysis, and Cronbach alpha values ranged from good to excellent. Regarding the effects of confinement, positive and negative impacts of the confinement depends of the eating disorder subtype. Patients with anorexia nervosa (AN) and with obesity endorsed a positive response to treatment during confinement, no significant changes were found in bulimia nervosa (BN) patients, whereas Other Specified Feeding or Eating Disorder (OSFED) patients endorsed an increase in eating symptomatology and in psychopathology. Furthermore, AN patients expressed the greatest dissatisfaction and accommodation difficulty with remote therapy when compared with the previously provided face-to-face therapy. The present study provides empirical evidence on the psychometric robustness of the CIES tool and shows that a negative confinement impact was associated with ED subtype, whereas OSFED patients showed the highest impairment in eating symptomatology and in psychopathology.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 1-50 av 64
Typ av publikation
tidskriftsartikel (57)
konferensbidrag (6)
bokkapitel (1)
Typ av innehåll
refereegranskat (58)
övrigt vetenskapligt/konstnärligt (6)
Författare/redaktör
Jiménez-Murcia, Susa ... (19)
Fernández-Aranda, Fe ... (18)
Murcia, M (15)
Granero, Roser (15)
Menchón, José M. (13)
Jimenez-Murcia, S (12)
visa fler...
Gómez-Peña, Mónica (11)
Ballester, F (10)
Li, D. (9)
Schmidt, U. (9)
Estivill, X (9)
Metspalu, A (9)
Fernandez-Aranda, F (9)
Hakonarson, H (9)
Moragas, Laura (9)
Kaprio, J (8)
Roberts, M. (8)
Egberts, K. (8)
Breen, G (8)
Foretova, L (8)
Rujescu, D (8)
Wagner, G (8)
Alfredsson, L (8)
Ehrlich, S (8)
Cichon, S (8)
Le Hellard, S (8)
Hebebrand, J. (8)
Lissowska, J (8)
Ripke, S (8)
Lichtenstein, P. (8)
Dedoussis, G. (8)
Palotie, A (8)
Pinto, D (8)
Reichborn-Kjennerud, ... (8)
Ando, T. (8)
Dina, C (8)
Zeggini, E (8)
Hauser, J. (8)
Herms, S. (8)
Tortorella, A. (8)
Monteleone, P. (8)
Maj, M. (8)
Llop, S (8)
Clementi, M (8)
Navratilova, M (8)
Ntalla, I (8)
Treasure, J (8)
del Pino-Gutiérrez, ... (8)
Gorwood, P (8)
Giegling, I (8)
visa färre...
Lärosäte
Karolinska Institutet (37)
Lunds universitet (16)
Göteborgs universitet (12)
Örebro universitet (4)
Linköpings universitet (4)
Umeå universitet (3)
visa fler...
Uppsala universitet (3)
Stockholms universitet (2)
Kungliga Tekniska Högskolan (1)
Mälardalens universitet (1)
visa färre...
Språk
Engelska (64)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (33)
Naturvetenskap (8)
Samhällsvetenskap (1)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy