Filetype
Background: Arginases catalyze the last step in the urea cycle. Hyperargininemia, a rare autosomal-recessive disorder of the urea cycle, presents after the first year of age with regression of milestones and evolves gradually into progressive spastic quadriplegia and cognitive dysfunction. Genetic studies reported various mutations in the ARG1 gene that resulted in hyperargininemia due to a comple
Genetic mutations associated with brain malformations can lead to a spectrum of severity and it is often difficult to determine whether there are additional pathogenic variants contributing to the phenotype. Here, we present a family affected by a severe brain malformation including bilateral polymicrogyria, hydrocephalus, patchy white matter signal changes, and cerebellar and pontine hypoplasia w
Background: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM #611105) is a genetic disease of the central nervous system characterized by lower limb spasticity, cerebellar ataxia and involvement of the dorsal column. The disease is caused by mutations in the DARS2 gene but has never been reported in sub-Saharan Africa so far. Case presentation: Two s
Background: Infantile neuroaxonal dystrophy (INAD) is a rare hereditary neurological disorder caused by mutations in PLA2G6. The disease commonly affects children below 3 years of age and presents with delay in motor skills, optic atrophy and progressive spastic tetraparesis. Studies of INAD in Africa are extremely rare, and genetic studies from Sub Saharan Africa are almost non-existent. Case pre
In this thesis I examine how Swedish farms adapt to structural, economic, and environmental pressures, and how knowledge shapes the adaptation processes. The thesis consists of four empirical studies where I analyse short-run responses to shocks, longer-term strategies for economic viability, ecological diversification, and investment behaviour. I use rich Swedish register and administrative data
It has been suggested that an intensified trade war between China and the US could reduce CO2 emissions associated with exports. We develop an export-greenfield-endogenous merger model, showing that significantly increased tariffs can enable domestic firms to undertake entry-deterring acquisitions. This forces foreign firms to remain exporters, which, in turn, leads to higher emissions. Strong com
In this paper, we investigate how the lockdown-induced exposure to remote work affected the likelihood of switching to longer commutes using a longitudinal full-population register of Swedish employees. We find that employees with little experience of longer commutes were more likely to start commuting longer if they had occupations with high potential for remote work. Examining heterogeneity acro
This paper presents a decision-analytic approach for evaluating risk reduction actions for structural systems under climate change. A decision-theoretic formulation is developed to quantify the value of actions, extended to address climate change scenario uncertainties. Scenario occurrence probabilities are derived from probabilistic effective radiative forcing exceedances to link climate model pr
Death is the prerequisite of life, life the prerequisite of death, just like chaos and order, light and shadow, joy and despair, love and grief, are each other's premises. When life breaks into pieces, despair may ensue, but darkness offers possibilities to tap into the light. The use of experiential somatic practices and creative expressions can reach deep and help illuminate conscious and uncons
Recent advances in instrumentation have sparked a transformative journey in materials science, providing insights into the intricate relationship between processing, structure and properties. Among them, cutting-edge in situ micro- and nanoscale mechanical characterization methods, equipped with exceptional spatial and temporal resolution, such as instrumented electron microscopy, X-ray imaging an
Protein aggregation is a hallmark of several neurodegenerative diseases, including Alzheimer’s disease, Parkinson’s disease and dementia with Lewy bodies. A common feature of these disorders is the misfolding and aggregation of α-synuclein (α-syn) and amyloid-β (Aβ) proteins into amyloid structures, which disrupt cellular homoeostasis and drive disease progression. While Aβ typically forms extrace
Excavating post-medieval sites has a long tradition in Denmark. It goes back to the 1940s and 1950s when sites such as Læsø Saltworks, Store Valby village, or Rømer tobacco pipe manufactory in Nørresundby were explored using approaches familiar to the contemporary practitioners of historical archaeology. From the 1970s onwards, post-medieval strata, which were previously removed without investigat
