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1.
  • Wang, Haidong, et al. (författare)
  • Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980-2015 : a systematic analysis for the Global Burden of Disease Study 2015
  • 2016
  • Ingår i: The Lancet. - 0140-6736 .- 1474-547X. ; 388:10053, s. 1459-1544
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Improving survival and extending the longevity of life for all populations requires timely, robust evidence on local mortality levels and trends. The Global Burden of Disease 2015 Study (GBD 2015) provides a comprehensive assessment of all-cause and cause-specific mortality for 249 causes in 195 countries and territories from 1980 to 2015. These results informed an in-depth investigation of observed and expected mortality patterns based on sociodemographic measures.METHODS: We estimated all-cause mortality by age, sex, geography, and year using an improved analytical approach originally developed for GBD 2013 and GBD 2010. Improvements included refinements to the estimation of child and adult mortality and corresponding uncertainty, parameter selection for under-5 mortality synthesis by spatiotemporal Gaussian process regression, and sibling history data processing. We also expanded the database of vital registration, survey, and census data to 14 294 geography-year datapoints. For GBD 2015, eight causes, including Ebola virus disease, were added to the previous GBD cause list for mortality. We used six modelling approaches to assess cause-specific mortality, with the Cause of Death Ensemble Model (CODEm) generating estimates for most causes. We used a series of novel analyses to systematically quantify the drivers of trends in mortality across geographies. First, we assessed observed and expected levels and trends of cause-specific mortality as they relate to the Socio-demographic Index (SDI), a summary indicator derived from measures of income per capita, educational attainment, and fertility. Second, we examined factors affecting total mortality patterns through a series of counterfactual scenarios, testing the magnitude by which population growth, population age structures, and epidemiological changes contributed to shifts in mortality. Finally, we attributed changes in life expectancy to changes in cause of death. We documented each step of the GBD 2015 estimation processes, as well as data sources, in accordance with Guidelines for Accurate and Transparent Health Estimates Reporting (GATHER).FINDINGS: Globally, life expectancy from birth increased from 61·7 years (95% uncertainty interval 61·4-61·9) in 1980 to 71·8 years (71·5-72·2) in 2015. Several countries in sub-Saharan Africa had very large gains in life expectancy from 2005 to 2015, rebounding from an era of exceedingly high loss of life due to HIV/AIDS. At the same time, many geographies saw life expectancy stagnate or decline, particularly for men and in countries with rising mortality from war or interpersonal violence. From 2005 to 2015, male life expectancy in Syria dropped by 11·3 years (3·7-17·4), to 62·6 years (56·5-70·2). Total deaths increased by 4·1% (2·6-5·6) from 2005 to 2015, rising to 55·8 million (54·9 million to 56·6 million) in 2015, but age-standardised death rates fell by 17·0% (15·8-18·1) during this time, underscoring changes in population growth and shifts in global age structures. The result was similar for non-communicable diseases (NCDs), with total deaths from these causes increasing by 14·1% (12·6-16·0) to 39·8 million (39·2 million to 40·5 million) in 2015, whereas age-standardised rates decreased by 13·1% (11·9-14·3). Globally, this mortality pattern emerged for several NCDs, including several types of cancer, ischaemic heart disease, cirrhosis, and Alzheimer's disease and other dementias. By contrast, both total deaths and age-standardised death rates due to communicable, maternal, neonatal, and nutritional conditions significantly declined from 2005 to 2015, gains largely attributable to decreases in mortality rates due to HIV/AIDS (42·1%, 39·1-44·6), malaria (43·1%, 34·7-51·8), neonatal preterm birth complications (29·8%, 24·8-34·9), and maternal disorders (29·1%, 19·3-37·1). Progress was slower for several causes, such as lower respiratory infections and nutritional deficiencies, whereas deaths increased for others, including dengue and drug use disorders. Age-standardised death rates due to injuries significantly declined from 2005 to 2015, yet interpersonal violence and war claimed increasingly more lives in some regions, particularly in the Middle East. In 2015, rotaviral enteritis (rotavirus) was the leading cause of under-5 deaths due to diarrhoea (146 000 deaths, 118 000-183 000) and pneumococcal pneumonia was the leading cause of under-5 deaths due to lower respiratory infections (393 000 deaths, 228 000-532 000), although pathogen-specific mortality varied by region. Globally, the effects of population growth, ageing, and changes in age-standardised death rates substantially differed by cause. Our analyses on the expected associations between cause-specific mortality and SDI show the regular shifts in cause of death composition and population age structure with rising SDI. Country patterns of premature mortality (measured as years of life lost [YLLs]) and how they differ from the level expected on the basis of SDI alone revealed distinct but highly heterogeneous patterns by region and country or territory. Ischaemic heart disease, stroke, and diabetes were among the leading causes of YLLs in most regions, but in many cases, intraregional results sharply diverged for ratios of observed and expected YLLs based on SDI. Communicable, maternal, neonatal, and nutritional diseases caused the most YLLs throughout sub-Saharan Africa, with observed YLLs far exceeding expected YLLs for countries in which malaria or HIV/AIDS remained the leading causes of early death.INTERPRETATION: At the global scale, age-specific mortality has steadily improved over the past 35 years; this pattern of general progress continued in the past decade. Progress has been faster in most countries than expected on the basis of development measured by the SDI. Against this background of progress, some countries have seen falls in life expectancy, and age-standardised death rates for some causes are increasing. Despite progress in reducing age-standardised death rates, population growth and ageing mean that the number of deaths from most non-communicable causes are increasing in most countries, putting increased demands on health systems.
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2.
  • Casey, Jillian P, et al. (författare)
  • A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
  • 2012
  • Ingår i: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 131:4, s. 565-579
  • Tidskriftsartikel (refereegranskat)abstract
    • Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
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3.
  • Challis, B G, et al. (författare)
  • Mice lacking pro-opiomelanocortin are sensitive to high-fat feeding but respond normally to the acute anorectic effects of peptide-YY(3-36).
  • 2004
  • Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424. ; 101:13, s. 4695-700
  • Tidskriftsartikel (refereegranskat)abstract
    • Inactivating mutations of the pro-opiomelanocortin (POMC) gene in both mice and humans leads to hyperphagia and obesity. To further examine the mechanisms whereby POMC-deficiency leads to disordered energy homeostasis, we have generated mice lacking all POMC-derived peptides. Consistent with a previously reported model, Pomc(-/-) mice were obese and hyperphagic. They also showed reduced resting oxygen consumption associated with lowered serum levels of thyroxine. Hypothalami from Pomc(-/-) mice showed markedly increased expression of melanin-concentrating hormone mRNA in the lateral hypothalamus, but expression of neuropeptide Y mRNA in the arcuate nucleus was not altered. Provision of a 45% fat diet increased energy intake and body weight in both Pomc(-/-) and Pomc(+/-) mice. The effects of leptin on food intake and body weight were blunted in obese Pomc(-/-) mice whereas nonobese Pomc(-/-) mice were sensitive to leptin. Surprisingly, we found that Pomc(-/-) mice maintained their acute anorectic response to peptide-YY(3-36) (PYY(3-36)). However, 7 days of PYY(3-36) administration had no effect on cumulative food intake or body weight in wild-type or Pomc(-/-) mice. Thus, POMC peptides seem to be necessary for the normal response of energy balance to high-fat feeding, but not for the acute anorectic effect of PYY(3-36) or full effects of leptin on feeding. The finding that the loss of only one copy of the Pomc gene is sufficient to render mice susceptible to the effects of high fat feeding emphasizes the potential importance of this locus as a site for gene-environment interactions predisposing to obesity.
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4.
  • Falster, Daniel, et al. (författare)
  • AusTraits, a curated plant trait database for the Australian flora
  • 2021
  • Ingår i: Scientific Data. - : Nature Portfolio. - 2052-4463. ; 8:1
  • Tidskriftsartikel (refereegranskat)abstract
    • We introduce the AusTraits database - a compilation of values of plant traits for taxa in the Australian flora (hereafter AusTraits). AusTraits synthesises data on 448 traits across 28,640 taxa from field campaigns, published literature, taxonomic monographs, and individual taxon descriptions. Traits vary in scope from physiological measures of performance (e.g. photosynthetic gas exchange, water-use efficiency) to morphological attributes (e.g. leaf area, seed mass, plant height) which link to aspects of ecological variation. AusTraits contains curated and harmonised individual- and species-level measurements coupled to, where available, contextual information on site properties and experimental conditions. This article provides information on version 3.0.2 of AusTraits which contains data for 997,808 trait-by-taxon combinations. We envision AusTraits as an ongoing collaborative initiative for easily archiving and sharing trait data, which also provides a template for other national or regional initiatives globally to fill persistent gaps in trait knowledge.
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6.
  • Heckman, Michael G., et al. (författare)
  • Population-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium
  • 2013
  • Ingår i: Movement Disorders. - : Wiley. - 0885-3185. ; 28:12, s. 1740-1744
  • Tidskriftsartikel (refereegranskat)abstract
    • BackgroundVariants within the leucine-rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine-rich repeat kinase 2 variation related to disease susceptibility displays many features that reflect the nature of complex, late-onset sporadic disorders like Parkinson's disease. MethodsThe Genetic Epidemiology of Parkinson's Disease Consortium recently performed the largest genetic association study for variants in the leucine-rich repeat kinase 2 gene across 23 different sites in 15 countries. ResultsHerein, we detail the allele frequencies for the novel risk factors (p.A419V and p.M1646T) and the protective haplotype (p.N551K-R1398H-K1423K) nominated in the original publication. Simple population allele frequencies not only can provide insight into the clinical relevance of specific variants but also can help genetically define patient groups. ConclusionsEstablishing individual patient-based genomic susceptibility profiles that incorporate both risk factors and protective factors will determine future diagnostic and treatment strategies. (c) 2013 International Parkinson and Movement Disorder Society
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  • Holmefur, Marie, 1968-, et al. (författare)
  • Evaluation of the "Let's Get Organized" group intervention to improve time management : protocol for a multi-centre randomised controlled trial
  • 2021
  • Ingår i: Trials. - : BioMed Central. - 1745-6215. ; 22:1
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Time management skills are essential for living in modern society. People with mental or neurodevelopmental disorders typically have cognitive limitations, including affected time management, which might lead to poor occupational balance, low self-efficacy, and poor parental sense of competence. "Let's Get Organized" (LGO) is a recently developed manual-based group intervention to train time management skills. The aim of this trial is to evaluate the efficiency of the Swedish version of LGO (LGO-S) compared to treatment as usual (individual occupational therapy) to improve time management for adults with impaired time management skills due to mental or neurodevelopmental disorders. Furthermore, to evaluate if the intervention is a cost-effective way to improve the quality of life and time management skills of these individuals, we will conduct a health economic evaluation.METHODS: The trial will have a multi-centre, open, parallel randomised controlled design. A total of 104 adults with cognitive limitations due to mental or neurodevelopmental disorders will be recruited from open psychiatric or habilitation care units. Outcomes will be measured before and after a 10-week intervention, with a follow-up 3 months after completing the intervention. The primary outcome will be self-assessed time management skills. Secondary outcomes will be e.g. self-assessed skills in organisation and planning, regulation of emotions, satisfaction with daily occupations, occupational balance, self-efficacy, and quality-adjusted life years.DISCUSSION: A recent feasibility study has shown promising results for LGO-S, and a randomised trial will provide robust evidence for the possible efficacy of LGO-S in comparison to treatment as usual.TRIAL REGISTRATION: ClinicalTrials.gov NCT03654248 . Registered on 20 August 2018.
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10.
  • Holmefur, Marie, 1968-, et al. (författare)
  • Let’s Get Organized : pilot study of an occupational therapy group intervention aimed to improve time management skills
  • 2018
  • Konferensbidrag (refereegranskat)abstract
    • Introduction: Managing daily life activities requires time management and organizing skills. Individuals with cognitive disabilities commonly have poor ability to manage time, which often results in decreased ability to properly manage daily life activities. An intervention aimed to increase time management skills is "Let’s get organized" (LGO).Objective: The current pilot study was designed to explore the outcome of the LGO with regards to time management skills, executive functions and satisfaction with daily occupations among individuals with cognitive disabilities.Method: Persons with mental and neurodevelopmental disorder with decreased ability to manage time in daily life according to self-rated measures, were recruited by their local Occupational Therapist. All participants took part in LGO, which is a 10-week manual based group intervention with weekly meetings. Each session has a separate theme, with a common structure and goal to improve time management skills and to implement the use of a calendar in daily life. Measured outcomes were time management skills (Assessment of Time Management Skills), executive functioning (Weekly Calendar Planning Activity) and overall satisfaction with daily activities (Satisfaction with Daily Occupations).Results: In all 55 persons participated in the study. Preliminary results from a subgroup indicate significant improvements in time management skills, in aspects of executive functioning and in overall satisfaction with daily occupations.Conclusion: The LGO seems to be a promising intervention to improve time management skills and satisfaction with daily occupations in the short term. The used instruments appear to be sensitive to capture change from LGO.
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12.
  • Holmefur, Marie, 1968-, et al. (författare)
  • Pilot Study of Let's Get Organized : A Group Intervention for Improving Time Management
  • 2019
  • Ingår i: American Journal of Occupational Therapy. - : American Occupational Therapy Association, Inc.. - 0272-9490 .- 1943-7676. ; 73:5
  • Tidskriftsartikel (refereegranskat)abstract
    • IMPORTANCE: There is a need for evidence-based occupational therapy interventions to enhance time management in people with time management difficulties.OBJECTIVE: To pilot test the first part of the Let's Get Organized (LGO) occupational therapy intervention in a Swedish context by exploring enhancements of time management skills, aspects of executive functioning, and satisfaction with daily occupations in people with time management difficulties because of neurodevelopmental or mental disorders.DESIGN: One-group pretest-posttest design with 3-mo follow-up.SETTING: Outpatient psychiatric and habilitation settings.PARTICIPANTS: Fifty-five people with confirmed or suspected mental or neurodevelopmental disorder and self-reported difficulties with time management in daily life.INTERVENTION: Swedish version of Let's Get Organized (LGO-S) Part 1, with structured training in the use of cognitive assistive techniques and strategies using trial-and-error learning strategies in 10 weekly group sessions of 1.5 hr.OUTCOMES AND MEASURES: Time management, organization and planning, and emotional regulation were measured with the Swedish version of the Assessment of Time Management Skills (ATMS-S). Executive functioning was measured with the Swedish version of the Weekly Calendar Planning Activity, and satisfaction with daily occupations was assessed with the Satisfaction With Daily Occupations measure.RESULTS: Participants displayed significantly improved time management, organization and planning skills, and emotional regulation, as well as satisfaction with daily occupations. Aspects of executive functioning were partly improved. ATMS-S results were sustained at 3-mo follow-up.CONCLUSION AND RELEVANCE: LGO-S Part 1 is a promising intervention for improving time management skills and satisfaction with daily occupations and should be investigated further.WHAT THIS ARTICLE ADDS: This study shows that LGO-S Part 1 is feasible for use in psychiatric and habilitation outpatient services. The results are promising for improved time management skills, organization and planning skills, and satisfaction with daily occupations and need to be confirmed in further studies.
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  • Huyghe, Jeroen R., et al. (författare)
  • Discovery of common and rare genetic risk variants for colorectal cancer
  • 2019
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:1, s. 76-
  • Tidskriftsartikel (refereegranskat)abstract
    • To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium panel variants into genome-wide association study data, and tested for association in 34,869 cases and 29,051 controls. Findings were followed up in an additional 23,262 cases and 38,296 controls. We discovered a strongly protective 0.3% frequency variant signal at CHD1. In a combined meta-analysis of 125,478 individuals, we identified 40 new independent signals at P < 5 x 10(-8), bringing the number of known independent signals for CRC to similar to 100. New signals implicate lower-frequency variants, Kruppel-like factors, Hedgehog signaling, Hippo-YAP signaling, long noncoding RNAs and somatic drivers, and support a role for immune function. Heritability analyses suggest that CRC risk is highly polygenic, and larger, more comprehensive studies enabling rare variant analysis will improve understanding of biology underlying this risk and influence personalized screening strategies and drug development.
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16.
  • Jandrić, Petar, et al. (författare)
  • Teaching in the Age of Covid-19
  • 2020
  • Ingår i: Postdigital Science and Education. - : Springer Science and Business Media LLC. - 2524-4868 .- 2524-485X. ; 2:3, s. 1069-1230
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
    • A collection of 84 author's testimonies and workspace photographs between 18 March and 5 May 2020.
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17.
  • Jandrić, Petar, et al. (författare)
  • Teaching in the Age of Covid-19 : The New Normal
  • 2022
  • Ingår i: Postdigital Science and Education. - : Springer Science and Business Media LLC. - 2524-485X .- 2524-4868. ; 4:3, s. 877-1015
  • Tidskriftsartikel (refereegranskat)abstract
    • On 17 March 2020, Postdigital Science and Education launched a call for testimonies about teaching and learning during very frst Covid-19 lockdowns. The resulting article, ‘Teaching in the Age of Covid-19’ (attached), presents 81 written testimonies and 80 workspace photographs submitted by 84 authors from 19 countries. On 17 March 2021, Postdigital Science and Education launched a call for a sequel article of testimonies about teaching and learning during very first Covid-19 lockdowns. The resulting article, ‘Teaching in the Age of Covid-19—1 Year Later’(attached), consists of 74 textual testimonies and 76 workspace photographs submitted by 77 authors from 20 countries.These two articles have been downloaded almost 100,000 times and have been cited more than 100 times. This shows their value as historical documents. Recent analyses, such as ‘Teaching in the Age of Covid-19—A Longitudinal Study ’(attached), also indicate their strong potential for educational research. As the Covid-19 pandemic seems to wind down, pandemic experiences have entered the mainstream. They shape all educational research of today and arguably do not require special treatment. Yet, our unique series of pandemic testimonies provides a unique opportunity to longitudinally trace what happens to the same people over the years—and this opportunity should not be missed.Today, we launch a call for fnal sequel: Teaching in the Age of Covid-19—The New Normal. In this sequel, we would like to hear about ways in which you—contributors to the previous articles—have established your own new normal. We hope that this will be the last iteration in this series of testimony articles. Unless the world faces another strong pandemic outburst, we would like to end the series with this last article.
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18.
  • Jandrić, Petar, et al. (författare)
  • Teaching in the Age of Covid-19—1 Year Later
  • 2021
  • Ingår i: Postdigital Science and Education. - : Springer. - 2524-485X .- 2524-4868. ; 3:3, s. 1073-1223
  • Tidskriftsartikel (refereegranskat)
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19.
  • Janeslätt, Gunnel, 1952-, et al. (författare)
  • Assessment of time management skills : psychometric properties of the Swedish version
  • 2018
  • Ingår i: Scandinavian Journal of Occupational Therapy. - : Informa UK Limited. - 1103-8128 .- 1651-2014. ; 25:3, s. 153-161
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Persons with impaired time management skills are often in need of occupational therapy. Valid and reliable instruments to assess time management and organizational skills are needed for the evaluation of intervention. The purpose of this study was to evaluate the psychometric properties of a Swedish version of the Assessment of Time Management Skills (ATMS-S) for persons with and without impaired time management skills.Method: A total of 238 persons participated in the study, of whom 94 had self-reported impaired time management skills due to mental disorders such as schizophrenic spectrum or neurodevelopmental disorders such as attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and mild intellectual disabilities, and 144 persons had no reported impaired time management skills. Rasch analysis was used to analyze data.Results: Three subscales were detected: the time management subscale with 11 items, the organization & planning subscale with 11 items, and the subscale of regulation of emotions with 5 items, with excellent to acceptable psychometric properties. The conclusions were that: ATMS-S is a valid instrument for self-rating of time management, organization & planning and for the regulation of emotions. ATMS-S can be useful for persons with mental disorders including mild neurodevelopmental disorders.
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20.
  • Lango Allen, Hana, et al. (författare)
  • Hundreds of variants clustered in genomic loci and biological pathways affect human height.
  • 2010
  • Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 467:7317, s. 832-8
  • Tidskriftsartikel (refereegranskat)abstract
    • Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P<0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.
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  • Nguyen, Dan D., et al. (författare)
  • Health Status and Clinical Outcomes in Older Adults With Chronic Coronary Disease
  • 2023
  • Ingår i: Journal of the American College of Cardiology. - : Elsevier BV. - 0735-1097 .- 1558-3597. ; 81:17, s. 1697-1709
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Whether initial invasive management in older vs younger adults with chronic coronary disease and moderate or severe ischemia improves health status or clinical outcomes is unknown. OBJECTIVES The goal of this study was to examine the impact of age on health status and clinical outcomes with invasive vs conservative management in the ISCHEMIA (International Study of Comparative Health Effectiveness with Medical and Invasive Approaches) trial.METHODS: One-year angina-specific health status was assessed with the 7-item Seattle Angina Questionnaire (SAQ) (score range 0-100; higher scores indicate better health status). Cox proportional hazards models estimated the treatment effect of invasive vs conservative management as a function of age on the composite clinical outcome of cardiovascular death, myocardial infarction, or hospitalization for resuscitated cardiac arrest, unstable angina, or heart failure.RESULTS: Among 4,617 participants, 2,239 (48.5%) were aged <65 years, 1,713 (37.1%) were aged 65 to 74 years, and 665 (14.4%) were aged $75 years. Baseline SAQ summary scores were lower in participants aged <65 years. Fully adjusted differences in 1-year SAQ summary scores (invasive minus conservative) were 4.90 (95% CI: 3.56-6.24) at age 55 years, 3.48 (95% CI: 2.40-4.57) at age 65 years, and 2.13 (95% CI: 0.75-3.51) at age 75 years (Pinteraction = 0.008). Improvement in SAQ Angina Frequency was less dependent on age (Pinteraction = 0.08). There were no age differences between invasive vs conservative management on the composite clinical outcome (Pinteraction = 0.29).CONCLUSIONS: Older patients with chronic coronary disease and moderate or severe ischemia had consistent improvement in angina frequency but less improvement in angina-related health status with invasive management compared with younger patients. Invasive management was not associated with improved clinical outcomes in older or younger patients.
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23.
  • Roshanai, Afsaneh, et al. (författare)
  • Psychometric Properties of the Original Version of the Assessment of Time Management Skills
  • 2021
  • Ingår i: American Journal of Occupational Therapy. - : American Occupational Therapy Association. - 0272-9490 .- 1943-7676. ; 75:Suppl. 2
  • Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
    • Time management is a key OT intervention component. Valid and reliable instruments are essential for evaluating rehabilitation and OT interventions. The results of this study show that the Assessment of Time Management Skills has good measurement properties and consistent and replicable items and is useful in English-speaking countries. It can provide valid measures of time management skills, organization and planning skills, and regulation of emotion in a general population and presumably also a population with cognitive impairment.
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24.
  • Roshanai, Afsaneh, et al. (författare)
  • Time management skills in relation to general self-efficacy and parental sense of competence in individuals with and without cognitive disabilities
  • 2019
  • Ingår i: Cogent Psychology. - : Cogent OA. - 2331-1908. ; 6:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Purpose: The aim of the study was to investigate to what extent time management skills are associated with general self-efficacy and parental sense of competence, and if there are any differences between individuals with and without cognitive disabilities in these aspects.Material and Methods: The study had a comparative cross-sectional design. Totally 86 individuals with cognitive disabilities (of whom 31 were parents), and 154 without disabilities (of whom 68 were parents) were included (N = 240). The Swedish versions of the Assessment of Time Management Skills (including time management, organisation & planning, and regulation of emotion subscales), General Self-Efficacy, and Parental Sense of Competence scale (including satisfaction, efficacy, and interest subscales) were used to collect data.Results: There were significant differences (p < .001) between individuals with and without cognitive disabilities in all three subscales of Assessment of Time Management Skills and in General Self-Efficacy. Overall, individuals with a cognitive disability scored lower than persons without cognitive disabilities. A significant difference was observed between parents in all three subscales of time management skills after controlling for age and education (p < .0005). Parents with cognitive disabilities, compared to parents without cognitive disability, scored significantly lower in all measured scales, except for the interest subscale. In parents with a cognitive disability, there was a significant correlation between all three subscales of Time Management Skills and satisfaction. Among parents without a cognitive disability there was a significant correlation between time management; and organisation & planning subscales; and efficacy, and between General Self-Efficacy and time management.Conclusions: Poor time management, planning and organisational skills, as well as a deficit in regulation of emotions may have a negative impact on general self-efficacy and parental sense of competence.
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25.
  • Roshanay, Afsaneh, et al. (författare)
  • The Psychometric Properties of the Original Version of Assessment of Time Management Skills (ATMS)
  • 2022
  • Ingår i: Occupational Therapy International. - : Wiley and Hindawi. - 0966-7903 .- 1557-0703. ; 2022
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: To perform daily activities, time management and organizational skills are essential and therefore also important intervention focus in occupational therapy. To guide and evaluate intervention, valid and reliable instruments that measure time management and organization skills are necessary. The aim of this study was to evaluate the psychometric properties of the Assessment of Time Management Skills (ATMS).Methods: Eligible participants were volunteer adults from the general population who were aged between 18 and 65 years, had a good understanding of English, and were not currently involved in any training or education to improve time management. The ATMS was filled out as a computer-administered survey. Rasch measurement analysis was used to evaluate the validity and aspects of reliability of the ATMS.Results: In total, 241 adults (112 male and 129 female, mean age = 40) participated. The analysis of principal components of residuals (PCA) and the item goodness-of-fit indicated that the 30-item scale does not measure only one single trait. Three subscales, time management (11 items), organization and planning (11 items), and regulation of emotion (5 items), were detected. One item each on the 11-item subscale showed misfit, but they were kept due to high relevance. All three subscales showed excellent results on analyses of PCA, local independence, and reliability.Conclusions and Relevance: ATMS can provide valid measures of time management, organization and planning skills, and regulation of emotion in a general population and presumably also in a population with cognitive impairment. The measure is useful for occupational therapists in assessing patients' strengths and barriers in time management skills. It can also be useful in identifying the necessity of training time management skills, to guide OT intervention programs and to evaluate interventions.What This Article Adds: Knowledge about the psychometric properties and usefulness of the ATMS in English-speaking countries.
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26.
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27.
  • Ross, Owen A., et al. (författare)
  • Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study
  • 2011
  • Ingår i: Lancet Neurology. - 1474-4465. ; 10:10, s. 898-908
  • Tidskriftsartikel (refereegranskat)abstract
    • Background The leucine-rich repeat kinase 2 gene (LRRK2) harbours highly penetrant mutations that are linked to familial parkinsonism. However, the extent of its polymorphic variability in relation to risk of Parkinson's disease (PD) has not been assessed systematically. We therefore assessed the frequency of LRRK2 exonic variants in individuals with and without PD, to investigate the role of the variants in PD susceptibility. Methods LRRK2 was genotyped in patients with PD and controls from three series (white, Asian, and Arab-Berber) from sites participating in the Genetic Epidemiology of Parkinson's Disease Consortium. Genotyping was done for exonic variants of LRRK2 that were identified through searches of literature and the personal communications of consortium members. Associations with PD were assessed by use of logistic regression models. For variants that had a minor allele frequency of 0.5% or greater, single variant associations were assessed, whereas for rarer variants information was collapsed across variants. Findings 121 exonic LRRK2 variants were assessed in 15 540 individuals: 6995 white patients with PD and 5595 controls, 1376 Asian patients and 962 controls, and 240 Arab-Berber patients and 372 controls. After exclusion of carriers of known pathogenic mutations, new independent risk associations were identified for polymorphic variants in white individuals (M1646T, odds ratio 1.43, 95% CI 1.15-1.78; p=0.0012) and Asian individuals (A419V, 2.27, 1.35-3.83; p=0.0011). A protective haplotype (N551K-R1398H-K1423K) was noted at a frequency greater than 5% in the white and Asian series, with a similar finding in the Arab-Berber series (combined odds ratio 0.82, 0.72-0.94; p=0.0043). Of the two previously reported Asian risk variants, G2385R was associated with disease (1.73, 1.20-2.49; p=0.0026), but no association was noted for R1628P (0.62, 0.36-1.07; p=0.087). In the Arab-Berber series, Y2189C showed potential evidence of risk association with PD (4.48, 133-15.09; p=0.012). Interpretation The results for LRRK2 show that several rare and common genetic variants in the same gene can have independent effects on disease risk. LRRK2, and the pathway in which it functions, is important in the cause and pathogenesis of PD in a greater proportion of patients with this disease than previously believed. These results will help discriminate those patients who will benefit most from therapies targeted at LRRK2 pathogenic activity. Funding Michael J Fox Foundation and National Institutes of Health.
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28.
  • Speliotes, Elizabeth K., et al. (författare)
  • Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
  • 2010
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 937-948
  • Tidskriftsartikel (refereegranskat)abstract
    • Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ~2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci associated with body mass index (P < 5 × 10−8), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation.
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29.
  • White, Helen E., et al. (författare)
  • Establishment of the first World Health Organization International Genetic Reference Panel for quantitation of BCR-ABL mRNA
  • 2010
  • Ingår i: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 116:22, s. E111-E117
  • Tidskriftsartikel (refereegranskat)abstract
    • Serial quantitation of BCR-ABL mRNA levels is an important indicator of therapeutic response for patients with chronic myelogenous leukemia and Philadelphia chromosome-positive acute lymphoblastic leukemia, but there is substantial variation in the real-time quantitative polymerase chain reaction methodologies used by different testing laboratories. To help improve the comparability of results between centers we sought to develop accredited reference reagents that are directly linked to the BCR-ABL international scale. After assessment of candidate cell lines, a reference material panel comprising 4 different dilution levels of freeze-dried preparations of K562 cells diluted in HL60 cells was prepared. After performance evaluation, the materials were assigned fixed percent BCR-ABL/control gene values according to the International Scale. A recommendation that the 4 materials be established as the first World Health Organization International Genetic Reference Panel for quantitation of BCR-ABL translocation by real-time quantitative polymerase chain reaction was approved by the Expert Committee on Biological Standardization of the World Health Organization in November 2009. We consider that the development of these reagents is a significant milestone in the standardization of this clinically important test, but because they are a limited resource we suggest that their availability is restricted to manufacturers of secondary reference materials.
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30.
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31.
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32.
  • Wingren, Maria, 1976-, et al. (författare)
  • One-year follow-up after the time management group intervention Let's Get Organized
  • 2022
  • Ingår i: Scandinavian Journal of Occupational Therapy. - : Informa Healthcare. - 1103-8128 .- 1651-2014. ; 29:4, s. 305-314
  • Tidskriftsartikel (refereegranskat)abstract
    • BACKGROUND: Time management skills are essential to maintain occupations in everyday life. People with neurodevelopmental or mental disorders often experience persistent difficulties with managing time and organizing daily life, consequently, there is a need to establish interventions with sustainable results.AIM: The aim was to perform a one-year post-intervention follow-up after the intervention Let's Get Organized (LGO-S) for people with neurodevelopmental or mental disorders.METHODS: The study is a one-year follow-up of a single group pre-test-post-test design. Thirty-eight persons with difficulties in time management due to neurodevelopmental or mental disorders participated. Instruments to collect data were Assessment of Time Management Skills; Weekly Calendar Planning Activity and the Satisfaction with Daily Occupations instrument. Wilcoxons's signed-rank test was used to compare data over time.RESULTS: There were no significant differences in the participants' outcomes between post-intervention and one-year follow-up in time management skills and regulation of emotions, satisfaction with daily occupations, and global satisfaction. A significant improvement could be seen in the subscale organization and planning at the one-year follow-up compared to post-intervention.CONCLUSIONS: Improvements in time management skills, organization, and planning, regulation of emotions, and satisfaction with daily occupations after the LGO-S can be maintained in the long term.
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33.
  • Wuttke, Matthias, et al. (författare)
  • A catalog of genetic loci associated with kidney function from analyses of a million individuals
  • 2019
  • Ingår i: Nature Genetics. - : NATURE PUBLISHING GROUP. - 1061-4036 .- 1546-1718. ; 51:6, s. 957-972
  • Tidskriftsartikel (refereegranskat)abstract
    • Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through transancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these,147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.
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34.
  • 2019
  • Tidskriftsartikel (refereegranskat)
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