| 1. |
- Thompson, Paul M., et al.
(författare)
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The ENIGMA Consortium : large-scale collaborative analyses of neuroimaging and genetic data
- 2014
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Ingår i: BRAIN IMAGING BEHAV. - : Springer Science and Business Media LLC. - 1931-7557 .- 1931-7565. ; 8:2, s. 153-182
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Tidskriftsartikel (refereegranskat)abstract
- The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.
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| 2. |
- Feigin, Valery L., et al.
(författare)
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Global, regional, and national burden of neurological disorders, 1990–2016 : a systematic analysis for the Global Burden of Disease Study 2016
- 2019
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Ingår i: Lancet Neurology. - : Elsevier. - 1474-4422 .- 1474-4465. ; 18:5, s. 459-480
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Tidskriftsartikel (refereegranskat)abstract
- Background: Neurological disorders are increasingly recognised as major causes of death and disability worldwide. The aim of this analysis from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2016 is to provide the most comprehensive and up-to-date estimates of the global, regional, and national burden from neurological disorders.Methods: We estimated prevalence, incidence, deaths, and disability-adjusted life-years (DALYs; the sum of years of life lost [YLLs] and years lived with disability [YLDs]) by age and sex for 15 neurological disorder categories (tetanus, meningitis, encephalitis, stroke, brain and other CNS cancers, traumatic brain injury, spinal cord injury, Alzheimer's disease and other dementias, Parkinson's disease, multiple sclerosis, motor neuron diseases, idiopathic epilepsy, migraine, tension-type headache, and a residual category for other less common neurological disorders) in 195 countries from 1990 to 2016. DisMod-MR 2.1, a Bayesian meta-regression tool, was the main method of estimation of prevalence and incidence, and the Cause of Death Ensemble model (CODEm) was used for mortality estimation. We quantified the contribution of 84 risks and combinations of risk to the disease estimates for the 15 neurological disorder categories using the GBD comparative risk assessment approach.Findings: Globally, in 2016, neurological disorders were the leading cause of DALYs (276 million [95% UI 247–308]) and second leading cause of deaths (9·0 million [8·8–9·4]). The absolute number of deaths and DALYs from all neurological disorders combined increased (deaths by 39% [34–44] and DALYs by 15% [9–21]) whereas their age-standardised rates decreased (deaths by 28% [26–30] and DALYs by 27% [24–31]) between 1990 and 2016. The only neurological disorders that had a decrease in rates and absolute numbers of deaths and DALYs were tetanus, meningitis, and encephalitis. The four largest contributors of neurological DALYs were stroke (42·2% [38·6–46·1]), migraine (16·3% [11·7–20·8]), Alzheimer's and other dementias (10·4% [9·0–12·1]), and meningitis (7·9% [6·6–10·4]). For the combined neurological disorders, age-standardised DALY rates were significantly higher in males than in females (male-to-female ratio 1·12 [1·05–1·20]), but migraine, multiple sclerosis, and tension-type headache were more common and caused more burden in females, with male-to-female ratios of less than 0·7. The 84 risks quantified in GBD explain less than 10% of neurological disorder DALY burdens, except stroke, for which 88·8% (86·5–90·9) of DALYs are attributable to risk factors, and to a lesser extent Alzheimer's disease and other dementias (22·3% [11·8–35·1] of DALYs are risk attributable) and idiopathic epilepsy (14·1% [10·8–17·5] of DALYs are risk attributable).Interpretation: Globally, the burden of neurological disorders, as measured by the absolute number of DALYs, continues to increase. As populations are growing and ageing, and the prevalence of major disabling neurological disorders steeply increases with age, governments will face increasing demand for treatment, rehabilitation, and support services for neurological disorders. The scarcity of established modifiable risks for most of the neurological burden demonstrates that new knowledge is required to develop effective prevention and treatment strategies.Funding: Bill & Melinda Gates Foundation.
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| 3. |
- van Kuilenburg, Andre B. P., et al.
(författare)
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Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS
- 2019
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Ingår i: New England Journal of Medicine. - 0028-4793 .- 1533-4406. ; 380:15, s. 1433-1441
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Tidskriftsartikel (refereegranskat)abstract
- We report an inborn error of metabolism caused by an expansion of a GCA-repeat tract in the 5′ untranslated region of the gene encoding glutaminase (GLS) that was identified through detailed clinical and biochemical phenotyping, combined with whole-genome sequencing. The expansion was observed in three unrelated patients who presented with an early-onset delay in overall development, progressive ataxia, and elevated levels of glutamine. In addition to ataxia, one patient also showed cerebellar atrophy. The expansion was associated with a relative deficiency of GLS messenger RNA transcribed from the expanded allele, which probably resulted from repeat-mediated chromatin changes upstream of the GLS repeat. Our discovery underscores the importance of careful examination of regions of the genome that are typically excluded from or poorly captured by exome sequencing.
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| 4. |
- Dietze, Paul, et al.
(författare)
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Correlates of alcohol consumption on heavy drinking occasions of young risky drinkers : event versus personal characteristics
- 2017
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Ingår i: Addiction. - : Wiley. - 0965-2140 .- 1360-0443. ; 112:8, s. 1369-1377
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Tidskriftsartikel (refereegranskat)abstract
- Aims Risky single-occasion drinking (RSOD) by young people is a serious public health issue, yet little is known about the specific circumstances of risky drinking occasions. This study examined the independent effects of event- and individual-specific variables on RSOD. Design Longitudinal cohort study measuring self-reported RSOD and event- and individual-specific variables across two drinking occasions approximately 1 year apart. Setting Metropolitan Melbourne, Australia. Participants A sample of 710 young risky drinkers aged between 18 and 25years and defined as engaging in risky drinking practices (males: consumed alcohol in excess of 10 Australian Standard Drinks (ASD: 10g ethanol) in a single occasion in the previous year; females: consumed alcohol in excess of seven ASD for females in a single occasion in the previous year). Measurements Random digit-dial telephone landline survey of the most recent heavy drinking occasion and socio-demographic variables. The primary outcome was the log of the total drinks consumed in the most recent heavy drinking occasion. Event-specific (e.g. number of drinking locations) and time-varying (e.g. weekly income) and time-invariant (e.g. sex) individual-specific variables were examined as correlates of total drinks consumed. Findings Changes in event-specific characteristics including the length of the drinking occasion (Likelihood Ratio (2)(2)=24.4, P<0.001), the number of drinking locations (Wald (2)((1))=7.6, P=0.006) and the number of different drink types (Wald (2)((1))=13.6, P<0.001) were associated with increases in total drinks consumed, after adjustment for time-invariant and time-variant individual-specific variables such as gender, income level and weekly consumption. Few other effects were noted. Conclusions Event-specific characteristics are important predictors of the number of drinks consumed during risky single occasion drinking (RSOD) and illustrate the importance of event contexts when considering interventions targeting RSOD. The total number of drinks consumed in a RSOD session appears to rise independently with the duration of the drinking event, the number of drinking locations and the number of different types of beverage consumed.
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| 5. |
- Callinan, Sarah, et al.
(författare)
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Purchasing, consumption, demographic and socioeconomic variables associated with shifts in alcohol consumption during the COVID-19 pandemic
- 2021
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Ingår i: Drug and Alcohol Review. - : Wiley. - 0959-5236 .- 1465-3362. ; 45, s. 24A-24A
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Tidskriftsartikel (refereegranskat)abstract
- Introduction and Aims: Restrictions introduced to reduce the spread of COVID-19 have had major impacts on the living circumstances of Australians. This paper aims to provide insight into shifts in alcohol consumption and associated factors during the epidemic. Design and Methods: A cross-sectional convenience sample of 2307 Australians aged 18 and over who drank at least monthly was recruited through social media. Respondents were asked about their alcohol consumption and purchasing in 2019 prior to the epidemic plus similar questions about their experiences in the month prior to being surveyed between 29 April and 16 May 2020. Results: Reports of average consumption before (3.53 drinks per day [3.36, 3.71 95% confidence interval]) and during (3.52 [3.34, 3.69]) the pandemic were stable. However, young men and those who drank more outside the home in 2019 reported decreased consumption during the pandemic, and people with high levels of stress and those who bulk-bought alcohol when restrictions were announced reported an increase in consumption relative to those who did not. Discussion and Conclusions: A reported increase in consumption among those experiencing more stress suggests that some people may have been drinking to cope during the epidemic. Conversely, the reported decrease in consumption among those who drank more outside of their home in 2019 suggests that closing all on-trade sales did not result in complete substitution of on-premise drinking with home drinking in this group. Monitoring of relevant subgroups to assess long-term changes in consumption in the aftermath of the epidemic is recommended.
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