| 1. |
- Sonderby, Ida E., et al.
(författare)
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Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
- 2020
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Ingår i: Molecular Psychiatry. - : Nature Publishing Group. - 1359-4184 .- 1476-5578. ; 25:3, s. 584-602
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Tidskriftsartikel (refereegranskat)abstract
- Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = −0.71 to −1.37; P < 0.0005). In an independent sample, consistent results were obtained, with significant effects in the pallidum (β = −0.95, P = 0.0042). The two data sets combined showed significant negative dose-response for the accumbens, caudate, pallidum, putamen and ICV (P = 0.0032, 8.9 × 10−6, 1.7 × 10−9, 3.5 × 10−12 and 1.0 × 10−4, respectively). Full scale IQ was lower in both deletion and duplication carriers compared to non-carriers. This is the first brain MRI study of the impact of the 16p11.2 distal CNV, and we demonstrate a specific effect on subcortical brain structures, suggesting a neuropathological pattern underlying the neurodevelopmental syndromes.
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| 2. |
- 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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| 3. |
- 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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| 4. |
- Jernigan, David, et al.
(författare)
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The ambiguous role of alcohol in economic and social development
- 2000
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Ingår i: Addiction. - : Wiley. - 0965-2140 .- 1360-0443. ; 95:12, Suppl. 4, s. 523-535
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Tidskriftsartikel (refereegranskat)abstract
- An increased and industrialized alcohol supply in a developing society is usually assumed to have positive effects on economic development, although it may be recognized that the effects on public health and order will be negative. There has been little attention to the potential for negative effects on the economic side. This paper directs attention to such factors as unemployment for cottage producers (often female heads of household) and reduced industrial employment as highly-automated "turnkey" brewers are installed. On the other hand, changes in the mode of production of alcoholic beverages may have little impact on the much larger work-force involved in serving or selling alcohol in retail trade. The net contribution of an increased and industrialized alcohol supply in terms of economic development is unclear, but industrialization and development bring with them increased demands for attention and sobriety, e.g. in motorized traffic and on the production line, which increased drinking may undercut. Decisions by international development agencies on investment in alcohol production and distribution should take account of both the positive and negative impacts on economic development as well as on public health. In line with this, the World Bank has recently decided to invest in alcohol industry projects only when there is a strong positive development impact and the project is "consistent with public health issues and social policy concerns".
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| 5. |
- Rehm, Jürgen, et al.
(författare)
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Steps towards constructing a global comparative risk analysis for alcohol consumption: : Determining Indicators and Empirical Weights for Patterns of Drinking, Deciding about Theoretical Minimum, and Dealing with Different Consequences
- 2001
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Ingår i: European Addiction Research. - : S. Karger AG. - 1022-6877 .- 1421-9891. ; 7:3, s. 138-147
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Tidskriftsartikel (refereegranskat)abstract
- In order to conduct a comparative risk analysis for alcohol within the Global Burden of Disease Study (GBD 2000), several questions had to be answered. (1) What are the appropriate dimensions for alcohol consumption and how can they be categorized? The average volume of alcohol and patterns of drinking were selected as dimensions. Both dimensions could be looked upon as continuous but were categorized for practical purposes. The average volume of drinking was categorized into the following categories: abstention; drinking 1 (>0–19.99 g pure alcohol daily for females, >0–39.99 g for males); drinking 2 (20–39.99 g for females, 40–59.99 g for males), and drinking 3 (≥40 g for females, ≥60 g for males). Patterns of drinking were categorized into four levels of detrimental impact based on an optimal scaling analysis of key informant ratings. (2) What is the theoretical minimum for both dimensions? A pattern of regular light drinking (at most 1 drink every day) was selected as theoretical minimum for established market economies for all people above age 45. For all other regions and age groups, the theoretical minimum was set to zero. Potential problems and uncertainties with this selection are discussed. (3) What are the health outcomes for alcohol and how do they relate to the dimensions? Overall, more than 60 disease conditions were identified as being related to alcohol consumption. Most chronic conditions seem to be related to volume only (exceptions are coronary heart disease and ischemic stroke), and most acute conditions seem to be related to volume and patterns. In addition, using methodology based on aggregate data, patterns were relevant for attributing harms for men but not women.
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| 6. |
- Room, Robin, et al.
(författare)
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Alcohol and the developing world : a public health perspective
- 2002
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Bok (övrigt vetenskapligt/konstnärligt)abstract
- This text examines the production and use of alcohol in contemporary developing societies, in order to identify methods of controlling and preventing alcohol abuse problems. The concept of "developing societies" has been defined broadly to include all countries in the American continent south of the United States, all Asian countries except Japan and the Russian Federation, all African countries, and all island states of Oceania except New Zealand. Topics covered include: the economic, social and cultural context; global patterns and trends in alcohol production and consumption; alcohol as a commodity in developing economies; drinking patterns and problems associated with alcohol misuse; and policies to target behavioural and environmental change. The primary audience for which this book is written is intended to be those involved in dealing with alcohol problems in devloping societies. This includes not only public health workers, and those involved in work in health, social work, law enforcement and public administration, but also policymakers and concerned citizens.
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