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Progressive myoclonic epilepsies (PMEs) comprise a group of rare disorders of different genetic aetiologies, leading to childhood-onset myoclonus, myoclonic seizures and subsequent neurological decline. One of the genetic causes for PME, a mutation in the gene coding for Golgi SNAP receptor 2 (GOSR2), gives rise to a PME-subtype prevalent in Northern Europe and hence referred to as North Sea Progr
Genetically determined myoclonus disorders are a result of a large number of genes. They have wide clinical variation and no systematic nomenclature. With next-generation sequencing, genetic diagnostics require stringent criteria to associate genes and phenotype. To improve (future) classification and recognition of genetically determined movement disorders, the Movement Disorder Society Task Forc
Filamentous fungi play a key role as decomposers in Earth’s nutrient cycles. In soils, substrates are heterogeneously distributed in microenvironments. Hence, individual hyphae of a mycelium may experience very different environmental conditions simultaneously. In the current work, we investigated how fungi cope with local environmental variations at single-cell level. We developed a method based
Pareto optimality is a concept that formalises the trade-off between a given set of mutually contradicting objectives. A solution is said to be Pareto optimal when it is not possible to improve one objective without deteriorating at least one of the other. A set of Pareto optimal solutions constitute the Pareto front. The Pareto concept applies well to the inverse planning process, which involves
Multimodality is in fact a polysemous word, which is tightly related to the notions of modality, and (semiotic) mode and is used in conceptually different ways across different disciplines (for a review see Adami, 2016; Devylder, 2019; Green, 2014). As cognitive semiotics (Zlatev et al., 2016) aims to integrate concepts and methods from semiotics, cognitive science and cognitive linguistics, we en
BACKGROUND:There are limited data on the treatment outcomes of adolescents living with HIV. Our objective was to compare mortality and loss to follow up (LTFU) rates between adolescent and younger age groups at enrollment in care.METHODS:This was a retrospective cohort study carried out in eight health facilities in two regions of Ethiopia. Adolescents (age 10-14 and 15-19 year) and children (age BackgroundThere are limited data on the treatment outcomes of adolescents living with HIV. Our objective was to compare mortality and loss to follow up (LTFU) rates between adolescent and younger age groups at enrollment in care.MethodsThis was a retrospective cohort study carried out in eight health facilities in two regions of Ethiopia. Adolescents (age 10–14 and 15–19 year) and children (age 0–
Despite extensive policy, regulation, and activism, heteronormativity and cisnormativity, and other forms of oppression, flourish in schools. Based on interviews with educators in schools, queer social movement organizations, school boards and teachers’ unions in Vancouver and Toronto, Canada, this chapter analyzes the strategies of queer educational justice work in schools. Working with Gilbert’s
Recension av licentiatavhandling om Per Krafft d.ä.:s porträttmåleri.
REcension av det först översiktsverket över miniatyr- och emaljmåleriet i Danmark.
Dagens planeringssystem är uppdelat på många aktörer och har traditionellt drivits av fokus på prognoser, kostnadseffektivitet, och samhällsekonomisk lönsamhet. Klimatutmaningen ställer delvis helt nya krav på planeringen, med ett fokus på att utveckla styrmedel som på ett kostnadseffektivt sätt leder till de utsläppsminskningar som behövs. I detta behövs en större uppmärksamhet på de sociala effe
Background Problem gambling is a public health issue and its comorbidity with other health conditions may provide an opportunity for screening in healthcare settings; however, a high level of uncertainty and a lack of research in the field remains. The objective of this study is to investigate potential associations between problem gambling and numerous other health conditions, including substance
In vivo dosimetry of IMRT from Copenhagen University Hospital
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