| 1. |
- Boen, Rune, et al.
(författare)
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Beyond the global brain differences : intraindividual variability differences in 1q21.1 distal and 15q11.2 bp1-bp2 deletion carriers
- 2024
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Ingår i: Biological Psychiatry. - 0006-3223 .- 1873-2402. ; 95:2, s. 147-160
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Tidskriftsartikel (refereegranskat)abstract
- Background: Carriers of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants exhibit regional and global brain differences compared with noncarriers. However, interpreting regional differences is challenging if a global difference drives the regional brain differences. Intraindividual variability measures can be used to test for regional differences beyond global differences in brain structure.Methods: Magnetic resonance imaging data were used to obtain regional brain values for 1q21.1 distal deletion (n = 30) and duplication (n = 27) and 15q11.2 BP1-BP2 deletion (n = 170) and duplication (n = 243) carriers and matched noncarriers (n = 2350). Regional intra-deviation scores, i.e., the standardized difference between an individual's regional difference and global difference, were used to test for regional differences that diverge from the global difference.Results: For the 1q21.1 distal deletion carriers, cortical surface area for regions in the medial visual cortex, posterior cingulate, and temporal pole differed less and regions in the prefrontal and superior temporal cortex differed more than the global difference in cortical surface area. For the 15q11.2 BP1-BP2 deletion carriers, cortical thickness in regions in the medial visual cortex, auditory cortex, and temporal pole differed less and the prefrontal and somatosensory cortex differed more than the global difference in cortical thickness.Conclusions: We find evidence for regional effects beyond differences in global brain measures in 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants. The results provide new insight into brain profiling of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants, with the potential to increase understanding of the mechanisms involved in altered neurodevelopment.
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| 2. |
- Marklund, Sarah, et al.
(författare)
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To act or not to act - a sense of control is important for people with chronic obstructive pulmonary disease to increase physical activity : grounded theory study
- 2023
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Ingår i: JMIR Formative Research. - : JMIR Publications. - 2561-326X. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Background: Among people with chronic obstructive pulmonary disease (COPD), low level of daily physical activity (PA) is the main risk factor for developing cardiovascular, metabolic, and musculoskeletal comorbidities. Increasing PA in people with COPD is complex as PA behavior itself is complex and multifaceted, including personal, physiological, and psychologicalelements as well as social and environmental factors. Although eHealth solutions such as web-based support or websites haveshown positive effects on PA in people with COPD, the results are inconclusive, and it is still unclear how eHealth solutionsmight be used to support positive changes in PA behavior in people with COPD.Objective: This study aimed to explore the perceptions of increasing objective PA when using a web-based eHealth tool amongpeople with COPD.Methods: This study was part of a pragmatic randomized controlled trial with in-depth interviews between the 3- and 12-month follow-ups. The methodology used was constructivist grounded theory. All sampling included participants from the randomized controlled trial intervention group, that is, participants who had access to the eHealth tool in question and agreed to be contacted for an in-depth interview. Inclusion of participants continued until data saturation was reached, resulting in an inclusion of 14 (n=8, 57% women) participants aged between 49 and 84 years and living in 8 municipalities in Middle and Northern Sweden. Two interviews were conducted face-to-face, and the remaining interviews were conducted via telephone. All interviews were recorded using a Dictaphone.Results: The analysis resulted in 3 main categories: welcoming or not welcoming action, having or lacking resources, and lowering the threshold. The first 2 categories contain barriers and facilitators, whereas the third category contains only facilitators. The categories lead to the more latent theme Perceiving enough control to enable action, meaning that it seems that perceiving the right amount of control is essential to maintain or increase the level of PA when using an eHealth tool, among patients with COPD. However, the right amount of control seemed to depend on the individual (and context) in question.Conclusions: The core category indicates that a need for a certain sense of control was interpreted as necessary for increasing the PA level as well as for using an eHealth tool to help increase the PA level. The eHealth tool seemed to strengthen or weaken the perception of control by either providing support or by being too demanding on the user. Perceptions varied depending onother environmental factors. The Fogg Behavior Model illustrated how motivational levels, ability levels, and functional triggers interact within our findings. Thus, this study provides further evidence for the importance of empowering the patients to boost their level of agency and their ability to improve PA levels.
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| 3. |
- Nyberg, Andre, Docent, 1984-, et al.
(författare)
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KOLwebben ökar kunskapen hos både personer med KOL och personal
- 2023
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Ingår i: Fysioterapi. - : Fysioterapeuterna. - 1653-5804. ; :1, s. 30-35
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Forskningsöversikt (populärvet., debatt m.m.)abstract
- I ett försök att minska gapet mellan rådande riktlinjer gällande icke-farmakologiska interventioner och den vård som erbjuds till personer med KOL har vi, tillsammans med användare, utvecklat och utvärderat KOLwebben. Användning av KOLwebben ledde till en kliniskt relevant ökad fysisk aktivitetsnivå och en ökad kunskap om egenvårdsstrategier hos personer med KOL. Hälso- och sjukvårdspersonal i regional primärvård och kommunal hemsjukvård rapporterade ökad kunskap om sjukdomen, behandlingsmetoder, arbetssätt och att verktyget är ett stöd i deras arbete. Initialt krävs dock extra resurser i form av tid och rutiner för att implementering ska ske. Ett digitalt stöd som KOLwebben kan rekommenderas till personer som är motiverade till att använda e-hälsoverktyg och som har en tillräcklig förmåga att ta till sig information om sin hälsa.
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| 4. |
- Dima, Danai, et al.
(författare)
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Subcortical volumes across the lifespan : Data from 18,605 healthy individuals aged 3-90 years.
- 2022
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Ingår i: Human Brain Mapping. - : Wiley. - 1065-9471 .- 1097-0193. ; 43:1, s. 452-469
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Tidskriftsartikel (refereegranskat)abstract
- Age has a major effect on brain volume. However, the normative studies available are constrained by small sample sizes, restricted age coverage and significant methodological variability. These limitations introduce inconsistencies and may obscure or distort the lifespan trajectories of brain morphometry. In response, we capitalized on the resources of the Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) Consortium to examine age-related trajectories inferred from cross-sectional measures of the ventricles, the basal ganglia (caudate, putamen, pallidum, and nucleus accumbens), the thalamus, hippocampus and amygdala using magnetic resonance imaging data obtained from 18,605 individuals aged 3-90 years. All subcortical structure volumes were at their maximum value early in life. The volume of the basal ganglia showed a monotonic negative association with age thereafter; there was no significant association between age and the volumes of the thalamus, amygdala and the hippocampus (with some degree of decline in thalamus) until the sixth decade of life after which they also showed a steep negative association with age. The lateral ventricles showed continuous enlargement throughout the lifespan. Age was positively associated with inter-individual variability in the hippocampus and amygdala and the lateral ventricles. These results were robust to potential confounders and could be used to examine the functional significance of deviations from typical age-related morphometric patterns.
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| 5. |
- Frangou, Sophia, et al.
(författare)
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Cortical thickness across the lifespan : Data from 17,075 healthy individuals aged 3-90 years
- 2022
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Ingår i: Human Brain Mapping. - : John Wiley & Sons. - 1065-9471 .- 1097-0193. ; 43:1, s. 431-451
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Tidskriftsartikel (refereegranskat)abstract
- Delineating the association of age and cortical thickness in healthy individuals is critical given the association of cortical thickness with cognition and behavior. Previous research has shown that robust estimates of the association between age and brain morphometry require large-scale studies. In response, we used cross-sectional data from 17,075 individuals aged 3-90 years from the Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) Consortium to infer age-related changes in cortical thickness. We used fractional polynomial (FP) regression to quantify the association between age and cortical thickness, and we computed normalized growth centiles using the parametric Lambda, Mu, and Sigma method. Interindividual variability was estimated using meta-analysis and one-way analysis of variance. For most regions, their highest cortical thickness value was observed in childhood. Age and cortical thickness showed a negative association; the slope was steeper up to the third decade of life and more gradual thereafter; notable exceptions to this general pattern were entorhinal, temporopolar, and anterior cingulate cortices. Interindividual variability was largest in temporal and frontal regions across the lifespan. Age and its FP combinations explained up to 59% variance in cortical thickness. These results may form the basis of further investigation on normative deviation in cortical thickness and its significance for behavioral and cognitive outcomes.
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| 6. |
- Nyberg, Theo, et al.
(författare)
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Bioenergianläggning Otterbäcken
- 2022
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Rapport (refereegranskat)abstract
- Transportsektorns efterfrågan på biodrivmedel ökar när klimatomställningen ska omsättas i praktik. Sverige har goda förutsättningar att producera dessa drivmedel och det finns flertalet orter runt om i landet där förutsättningarna för biodrivmedelsproduktion är goda. Gullspångs kommun har under de senaste tio åren fört en dialog med Västra Götalandsregionen om möjligheten att etablera en bioenergikombinatanläggning i Otterbäcken för att nyttja de goda förutsättningar som finns med tillgång på råvara samt goda logistiska förutsättningar med bland annat djuphamnen. I detta projekt har en utredning gjorts för att ta fram kommersiellt relevanta investeringskoncept för en bioenergikombinatanläggning i Otterbäcken, och resultaten pekar på intressanta förutsättningar för en anläggning för produktion av flytande biometan (Liquified biogas, LBG).Projektet har utgått från en äldre förstudie där förutsättningarna för en bioenergikombinat-anläggning som producerar torrefierad biomassa undersöktes. Kunskaperna från denna tidigare studie har kompletterats med nya kartläggningar av relevanta tekniker och lokala råvaror som kan ingå i ett investeringskoncept för en anläggning som producerar biodrivmedel som kan användas i befintliga tunga lastbilar. Kartläggningen omfattade sju olika tekniker som utifrån de uppdaterade kartläggningarna kondenserades ned till två investeringskoncept för djupare undersökning av investeringskoncept. Det ena konceptet var en anläggning för produktion av pyrolysolja från skogsrester och det andra konceptet var en anläggning för produktion av LBG, men på grund av en högre teknologisk mognadsgrad samt större intresse från referensgruppen för det senare konceptet (LBG) så fick detta ett större fokus i projektet.De två fördjupade investeringskoncepten inkluderade teknikbeskrivning, skiss på affärsmodell med hjälp av referensgruppen, ekonomisk bedömning av lönsamheten i investeringen samt en beräkning av klimatpåverkan för drivmedlet (endast för LBG-konceptet).Resultaten visar att det ser ut att finnas både råvaror för, teknik till och förutsättningar för en god ekonomi i en anläggning för produktion av LBG. Råvarusituationen behöver bekräftas genom kontakter med råvaruleverantörer, tekniken kan behöva viss utvärdering för att hitta etablerade teknikleverantörer med pålitlig teknik och de ekonomiska förutsättningarna är beroende av investerings- och produktionsstöd för att kunna vara kommersiellt intressanta. Trots dessa osäkerheter är den samlade bedömningen att det kan vara aktuellt för en aktör eller grupp av aktörer med intresse av att äga och driva en biogasanläggning att ta vid där projektet slutar för att på sikt gå vidare med en investering i en anläggning.
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| 7. |
- Wierenga, Lara M., et al.
(författare)
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Greater male than female variability in regional brain structure across the lifespan
- 2022
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Ingår i: Human Brain Mapping. - : John Wiley & Sons. - 1065-9471 .- 1097-0193. ; 43:1, s. 470-499
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Tidskriftsartikel (refereegranskat)abstract
- For many traits, males show greater variability than females, with possible implications for understanding sex differences in health and disease. Here, the ENIGMA (Enhancing Neuro Imaging Genetics through Meta-Analysis) Consortium presents the largest-ever mega-analysis of sex differences in variability of brain structure, based on international data spanning nine decades of life. Subcortical volumes, cortical surface area and cortical thickness were assessed in MRI data of 16,683 healthy individuals 1-90 years old (47% females). We observed significant patterns of greater male than female between-subject variance for all subcortical volumetric measures, all cortical surface area measures, and 60% of cortical thickness measures. This pattern was stable across the lifespan for 50% of the subcortical structures, 70% of the regional area measures, and nearly all regions for thickness. Our findings that these sex differences are present in childhood implicate early life genetic or gene-environment interaction mechanisms. The findings highlight the importance of individual differences within the sexes, that may underpin sex-specific vulnerability to disorders.
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| 8. |
- Córdova-Palomera, Aldo, et al.
(författare)
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Genetic control of variability in subcortical and intracranial volumes
- 2021
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Ingår i: Molecular Psychiatry. - : Nature Publishing Group. - 1359-4184 .- 1476-5578. ; 26:8, s. 3876-3883
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Tidskriftsartikel (refereegranskat)abstract
- Sensitivity to external demands is essential for adaptation to dynamic environments, but comes at the cost of increased risk of adverse outcomes when facing poor environmental conditions. Here, we apply a novel methodology to perform genome-wide association analysis of mean and variance in ten key brain features (accumbens, amygdala, caudate, hippocampus, pallidum, putamen, thalamus, intracranial volume, cortical surface area, and cortical thickness), integrating genetic and neuroanatomical data from a large lifespan sample (n = 25,575 individuals; 8-89 years, mean age 51.9 years). We identify genetic loci associated with phenotypic variability in thalamus volume and cortical thickness. The variance-controlling loci involved genes with a documented role in brain and mental health and were not associated with the mean anatomical volumes. This proof-of-principle of the hypothesis of a genetic regulation of brain volume variability contributes to establishing the genetic basis of phenotypic variance (i.e., heritability), allows identifying different degrees of brain robustness across individuals, and opens new research avenues in the search for mechanisms controlling brain and mental health.
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| 9. |
- Nyberg, Markus, et al.
(författare)
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Modeling protein target search in human chromosomes
- 2021
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Ingår i: Physical Review Research. - : American Physical Society. - 2643-1564. ; 3:1
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Tidskriftsartikel (refereegranskat)abstract
- Several processes in the cell, such as gene regulation, start when key proteins recognize and bind to short DNA sequences. However, as these sequences can be hundreds of million times shorter than the genome, they are hard to find by simple diffusion: diffusion-limited association rates may underestimate in vitro measurements up to several orders of magnitude. Moreover, the rates increase if the DNA is coiled rather than straight. Here we model how this works in vivo in mammalian cells. We use chromatin-chromatin contact data from Hi-C experiments to map the protein target-search onto a network problem. The nodes represent DNA segments and the weight of the links are proportional to measured contact probabilities. We then put forward a diffusion-reaction equation for the density of searching protein that allows us to calculate the association rates across the genome analytically. For segments where the rates are high, we find that they are enriched with active gene starts and have high RNA expression levels. This paper suggests that the DNA's 3D conformation is important for protein search times in vivo and offers a method to interpret protein-binding profiles in eukaryotes that cannot be explained by the DNA sequence itself.
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| 10. |
- Sønderby, Ida E., et al.
(författare)
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1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
- 2021
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Ingår i: Translational Psychiatry. - : Nature Publishing Group. - 2158-3188. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers-the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.
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