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- de Jong, S, et al.
(författare)
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Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder
- 2018
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Ingår i: Communications biology. - : Springer Science and Business Media LLC. - 2399-3642. ; 1, s. 163-
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Tidskriftsartikel (refereegranskat)abstract
- Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders.
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- Peolsson, A., et al.
(författare)
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Altered mechanical deformation of the trapezius and multifidus muscles registered with ultrasonography in women with chronic whiplash-associated disorders
- 2016
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Ingår i: Manual Therapy. - : Elsevier BV. - 1356-689X .- 1532-2769. ; 25, s. e58-
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Tidskriftsartikel (refereegranskat)abstract
- Background: The deformation and deformation rate of the dorsal neck muscle layers in individuals with chronic whiplash associated disorders (WAD) is rarely evaluated, and the mechanical behaviour during dynamic neck extension remains to be investigated.Purpose: To compare the deformation and deformation rate of dorsal neck muscles (trapezius, splenius capitis, semispinalis capitis and cervicis, and multifidus) in women with chronic WAD compared with healthy controls during a dynamic resisted neck extension.Methods: Nine women with chronic grade 2 and 3 WAD (mean age 38 years, standard deviation [SD] 11.3) and nine age- and gender-matched healthy controls (mean age 38 years, SD 11.6) participated in this cross-sectional, controlled study. Ultrasonography movies and post-process speckle tracking were used to investigate real-time mechanical dorsal neck muscle behaviour at the C4 segmental level during a low-loaded dynamic standardized neck extension. Deformation (longitudinal shortening and elongation) and deformation rate (speed of deformation) were calculated during the entire exercise sequence.Results: There were significant differences between the WAD and control groups in total deformation for the trapezius (p < 0.04) and multifidus (p < 0.03). The WAD group showed more shortening in the deformation pattern during the concentric contraction phase in the trapezius muscle, and during both the concentric and eccentric phase in the multifidus muscle compared to healthy controls. There were no other significant differences between groups either in deformation or deformation rate.Conclusion: There were altered mechanical deformations of the trapezius and multifidus muscles, with preliminary evidence for overuse in individuals with WAD compared to healthy controls. The findings must be interpreted with caution due to the small sample size.Implications: An ultrasound investigation made it possible to non-invasively capture multi-layered muscles in real time, adding new information of value for clinical practice of patients with WAD, which may impact future rehabilitation.
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- Stephens, Lucas, et al.
(författare)
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Archaeological assessment reveals Earth’s early transformation through land use
- 2019
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Ingår i: Science. - : American Association for the Advancement of Science. - 0036-8075 .- 1095-9203. ; 365:6456, s. 897-902
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Tidskriftsartikel (refereegranskat)abstract
- Humans began to leave lasting impacts on Earth’s surface starting 10,000 to 8000 years ago. Through a synthetic collaboration with archaeologists around the globe, Stephens et al. compiled a comprehensive picture of the trajectory of human land use worldwide during the Holocene (see the Perspective by Roberts). Hunter-gatherers, farmers, and pastoralists transformed the face of Earth earlier and to a greater extent than has been widely appreciated, a transformation that was essentially global by 3000 years before the present.Science, this issue p. 897; see also p. 865Environmentally transformative human use of land accelerated with the emergence of agriculture, but the extent, trajectory, and implications of these early changes are not well understood. An empirical global assessment of land use from 10,000 years before the present (yr B.P.) to 1850 CE reveals a planet largely transformed by hunter-gatherers, farmers, and pastoralists by 3000 years ago, considerably earlier than the dates in the land-use reconstructions commonly used by Earth scientists. Synthesis of knowledge contributed by more than 250 archaeologists highlighted gaps in archaeological expertise and data quality, which peaked for 2000 yr B.P. and in traditionally studied and wealthier regions. Archaeological reconstruction of global land-use history illuminates the deep roots of Earth’s transformation and challenges the emerging Anthropocene paradigm that large-scale anthropogenic global environmental change is mostly a recent phenomenon.
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