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Machado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG)n expansion. MJD has two major ancestral backgrounds: the Machado lineage, found mainly in Portuguese families; and the Joseph lineage, present in all five continents, probably originating in Asia. MJD has been described in a few African and African-American families, but here we report the fir
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This study focuses on the development of unstructured models, including both substrate and product inhibition, that predict the cultivation of Actinobacillus succinogenes and Basfia succiniciproducens on a mixture of C5 and C6 sugars, similar to the sugar composition contained in spent sulphite liquor, the liquid waste stream from the sulphite pulping process. The main sugar monomer contained in t
Aim. The purpose of this investigation was to analyze predictors for wound healing, amputation and mortality after vacuum assisted closure (VAC (R)) therapy of wounds in the lower limb in patients with arterial disease. Methods. One hundred and twenty one wounds were treated and followed for 12 months at two vascular centres in Uppsala and Malmo, Sweden. VAC (R) therapy was applied in the wound at
According to the World Health Organization Wheelchair Provision Guidelines (2023) wheelchair training is a critical component of the wheelchair provision process. In fact, the guidelines ‘strongly recommend’ that training for power and manual wheelchairs needs to be provided to enable maximum use and prevent abandonment and secondary injuries. Moreover, task-specific training is particularly encou
Background: Cognitive deficits such as difficulties with attention, memory, and executive functions are frequently reported during remission from depression and relates to adverse functioning in daily life and risk of relapse. There is therefore a need for interventions targeting cognitive deficits after depression. However, few randomized controlled trials have investigated the efficacy of interv
Purpose – The study aims to investigate the effects of a remote energy management service to the energy consumption of retail buildings. The study focuses on analysing the changes in energy consumption after the implementation of a facility service concept where building processes are optimized with a remote energy management system. The paper seeks to demonstrate that remotely operated building m
Purpose:To describe the features of retinal detachments and high myopia in patients with novel pathogenic variants in LEPREL1 and report a possible association with nephropathy.Methods:Retrospective study of 10 children with biallelic LEPREL1 pathogenic variants. Data included ophthalmic features, surgical interventions, and genetic and laboratory findings.Results:10 patients (8 females) from thre
In spite of the similar structural and genomic organization of human immunodeficiency viruses type 1 and 2 (HIV-1 and HIV-2), striking differences exist between them in terms of replication dynamics and clinical manifestation of infection. Although the pathomechanism of HIV-1 infection is well characterized, relatively few data are available regarding HIV-2 viral replication and its interaction wi
The enunciation of the principle of equality and non-discrimination is of fundamental source in international human rights laws and EU-law and has a prominent place in the Icelandic constitution. The principles of equality and non-discrimination are based on various legal concepts that have evolved mainly in international and regional human rights or equality jurisprudence. International legal pro
Syftet med förevarande uppsats är att undersöka om den nya svenska tobakslagen gällande rökförbud är förenlig med EU-rätten. Den rättsliga undersökningen avser att besvara frågor kring hur det svenska rökförbudet är utformat och hur lagen förhåller sig till EU-rätten. Uppsatsen analyserar den svenska lagen, lagens förenlighet med tobaksproduktdirektivet, bestämmelserna om fri rörlighet i FEUF-fördThe aim of this thesis is to examine whether the Swedish prohibition of smoking complies with EU law. In order to do so, the questions that the paper aims to answer are firstly how the provision of smoking is designed, secondly, how the Swedish prohibition of smoking relates to EU-law and, thirdly, how it complies with the Convention of tobacco control. The paper will thus focus on the rules of fr
Context. To use the data in the future Gaia catalogue it is important to have accurate estimates of the statistical uncertainties and correlations of the errors in the astrometric data given in the catalogue. Aims. In a previous paper we derived a mathematical model for computing the covariances of the astrometric data based on series expansions and a simplified attitude description. The aim of th
Purpose: To investigate the use of different modes of transport and long-term changes among stroke survivors with cognitive functional limitations (CFLs), and to study differences among sub-groups (decreased/ceased vs. unchanged and increased public transport use) regarding physical functional limitations (PFLs), CFLs, depression, and social activity outside home. Method: Survey of 79 individuals
ABSTRACT: BACKGROUND: The conditions for steam pretreatment of sugar cane bagasse and leaves were studied using CO2 as an impregnating agent. The following conditions were investigated: time (5 to 15 min) and temperature (190 to 220 degrees C). The pretreatment was assessed in terms of glucose and xylose yields after enzymatic hydrolysis and inhibitor formation (furfural and hydroxymethylfurfural)
Aim: The purpose of this study was to investigate the relationship between maximum oxygen uptake (VO2PEAK) and body fat in young children on a population-based level. Methods: Participants were 586 children (311 boys and 275 girls) aged 6.8 +/- 0.4 years, recruited from a population-based cohort. VO2PEAK was measured by indirect calorimetry during a maximal exercise test. Percent body fat (BF%) wa
Background: Respiratory agents may be detected in the oropharynx of healthy individuals. The extent of this condition and the reasons behind it are largely unknown. The objective of this study was to determine the factors associated with the presence of respiratory agents in the oropharynx of adolescents healthy enough to attend school activities. Methods: On a single day in December, samples from
Environmental impacts from incineration, decentralised composting and centralised anaerobic digestion of solid organic household waste are compared using the EASEWASTE LCA-tool. The comparison is based on a full scale case study in southern Sweden and used input-data related to aspects such as source-separation behaviour, transport distances, etc. are site-specific. Results show that biological tr
