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Mitochondrial DNA defects were known to be associated with a wide spectrum of human diseases and patients might present a wide range of clinical features in various combinations. In the current study, we described a patient with psychomotor and neurodevelopmental delay, mild hyperintensity of posterior periventicular white matter, generalized clonic seizures, leukodystrophy, and congenital deafnes

Three independent cases of chronic haemolytic anaemia in Sweden have recently been demonstrated to be due to the unstable haemoglobin variant Hb Koln. The patients, all of whom have partially compensated chronic haemolytic anaemia, presented with aggravated haemolysis during acute infections in childhood. In one case, acute B19 parvovirus infection induced an aplastic crisis. The substitutions all

This study aims to explore how the Swedish Migration Court’s decision is legitimized or delegitimized in discourses in civil society, outside the legislative and judicial power. This is explored with a case study on a judicial decision to expel Sonya, a 90-year-old and sick Ukrainian woman. The material is collected from social media platforms where this case has been discussed. Thus, the results

This investigation deals with the debate surrounding the controversial question of whether there exists a constitutive tradition at the Second Vatican Council (1962-1965). The investigation can broadly be divided into three sections. The first section provides both an analysis of the terminology relevant for understanding and a theological background. The background leads up the Council of Trent (

This thesis aimed to work with different techniques of building archaeology, both traditional and digital. The goal was to define the possibilities offered by the “traditional” and the “digital” building archaeology but also to show the limits of these two methods. The main issue of discussing methodological problems in building archaeology was the need to define digital building archaeology, espe

Popular Science Summary There is a saying that the sun supports the life living on earth. In general, the sunlight supports plants living, and plants become the base of almost all forms of ecosystems. A reaction called photosynthesis exists in all kinds of plants and is the foundation of usage of sunlight energy. In the photosynthesis process, energy in the sunlight converted into the energy store

Recent studies suggest that service definition is an ongoing process, with service characteristics being temporarily stabilised and destabilised through buyer–service provider interactions. However, little is still known about how and, in particular, why services are (re)defined during the sourcing process, e.g., in terms of their intended outputs, how they are performed (processes), the inputs re

The rich Mayan weaving tradition in Guatemala has survived even though the indigenous population has been subject to centuries of hardship and oppression. After conducting a field study and scrutinising the commercialisation process of the traditional designs in five different producer cooperatives of which, for the purpose of this thesis, some are characterised as weaving cooperatives and others

Proprotein convertase subtilisin/kexin type 9 (PCSK9) promotes the degradation of the hepatic low-density lipoprotein receptor (LDL-R) and is therefore a prominent therapeutic target for reducing LDL-cholesterol. The C-terminal domain of PCSK9 is unlikely to be involved in a direct extracellular interaction with the LDL-R. We probed the importance of the C-terminus for the degradation of the LDL-R

Glycolipid-lectin-driven endocytosis controls the formation of clathrin-independent carriers and the internalization of various cargos such as β1 integrin. Whether this process is regulated in a dynamic manner remained unexplored. Here we demonstrate that, within minutes, the epidermal growth factor triggers the galectin-driven endocytosis of cell-surface glycoproteins, such as integrins, that are

Climate change is expected to increase the frequency and intensity of the most severe weather-related hazards over the coming decades. The poor in developing countries are particularly susceptible to climate change, often living in informal or precarious settlements. In order to reduce the vulnerability in those areas and strengthen people´s capacities to adapt to climate change, there is a need f

Background: Guidelines recommend neoadjuvant chemotherapy (NAC) and radical cystectomy (RC) for muscle-invasive bladder cancer (MIBC). Current recommendations do not consider genomic profiles, although the Basal/Squamous (Ba/Sq) subtype is less likely to respond to NAC compared to Urothelial-like (Uro) and Genomically Unstable (GU) subtypes. The aim of this study is to perform cost-effectiveness a