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In this paper, we describe a distinct clinical subtype of 3-methylglutaconic aciduria. 3-Methylglutaconic aciduria is a group of different metabolic disorders biochemically characterized by increased urinary excretion of 3-methylglutaconic acid. We performed biochemical and genetic investigations, including urine organic acid analysis, NMR spectroscopy, measurement of 3-methylglutaconyl-CoA hydrat

Introduction: Dystonia-deafness syndrome is a distinct clinical presentation within the dystonia-spectrum. Although several genetic and acquired causes have been reported, etiology remains unknown in the majority of patients. Objectives: To describe two patients with dystonia-deafness syndrome due to a beta-actin gene mutation. Methods: We report on disease course, genetic testing, and management

Background and purpose We investigated the clinical applicability of a novel liquid fiducial marker (LFM) for image-guided pencil beam scanned (PBS) proton therapy (PBSPT) of locally advanced lung cancer (LALC). Materials and methods The relative proton stopping power (RSP) of the LFM was calculated and measured. Dose perturbations of the LFM and three solid markers, in a phantom, were measured. P

Introduction: We investigated amyloid-burden quantification in a mixed memory clinic population. Methods: [18F]Florbetaben amyloid-PET (positron emission tomography) scans of 348 patients were visually read and quantified using the Centiloid (CL) method. General linear models were used to assess CL differences across syndromic and etiological diagnosis. Linear mixed models were fitted to assess th

Background: Little is known about the effects of pesticides on children's respiratory and allergic outcomes.We evaluated associations of prenatal and current pesticide exposures with respiratory and allergic outcomes in children from the Infants' Environmental Health Study in Costa Rica.Methods: Among 5-year-old children (n=303), we measured prenatal and current specific gravity-corrected urinary

Myeloproliferative neoplasms (MPNs) are blood cancers that are characterized by the excessive production of mature myeloid cells and arise from the acquisition of somatic driver mutations in haematopoietic stem cells (HSCs). Epidemiological studies indicate a substantial heritable component of MPNs that is among the highest known for cancers1. However, only a limited number of genetic risk loci ha

Anthropogenic activities such as intensification of agriculture, animal husbandry and expansion of cities can negatively impact wildlife through its influence on the availability of high-quality food resources and pathogen transmission. The house sparrow (Passer domesticus), an urban exploiter, is undergoing a population decline. Nutritional constrains and infectious diseases has been highlighted

Sociocultural valuation (SCV) of ecosystem services (ES) discloses the principles, importance or preferences expressed by people towards nature. Although ES research has increasingly addressed sociocultural values in past years, little effort has been made to systematically review the components of sociocultural valuation applications for different decision contexts (i.e. awareness raising, accoun

Epigenetic modifications triggered by high glucose may predispose to diabetes risk by regulating gene expression activity. A growing body of evidence suggests that histone modification which is an essential component of epigenetic mechanism may play an important role in the development of type 2 diabetes (T2D) and its complications. In this thesis, the overarching aim is to map histone modificatio

Information on late onset liver complications after childhood cancer is scarce. To ensure an appropriate follow-up of childhood cancer survivors and reducing late liver complications, the need for comprehensive and accurate information is presented. We evaluate the risk of liver diseases in a large childhood cancer survivor cohort. We included all 1-year survivors of childhood cancer treated in th

Joint Species Distribution Modelling (JSDM) is becoming an increasingly popular statistical method for analysing data in community ecology. Hierarchical Modelling of Species Communities (HMSC) is a general and flexible framework for fitting JSDMs. HMSC allows the integration of community ecology data with data on environmental covariates, species traits, phylogenetic relationships and the spatio-t

Writing over a century ago, Darwin hypothesized that vocal expression of emotion dates back to our earliest terrestrial ancestors. If this hypothesis is true, we should expect to find cross-species acoustic universals in emotional vocalizations. Studies suggest that acoustic attributes of aroused vocalizations are shared across many mammalian species, and that humans can use these attributes to in

We present a combined experimental and theoretical study of the structure and the lattice dynamics in the complex metallic alloy Mg2Zn 11, by means of neutron and x-ray scattering, as well as ab initio and empirical potential calculations. Mg2Zn11 can be seen as an intermediate step in structural complexity between the simple Laves-phase MgZn2 on one side, and the complex 1/1 approximants and quas

Aggregation of the amyloid-β (Aβ) peptide into plaques is believed to play a crucial role in Alzheimer's disease. Amyloid plaques consist of fibrils of full length Aβ peptides as well as N-terminally truncated species. β-Site amyloid precursor protein-cleaving enzyme (BACE1) cleaves amyloid precursor protein in the first step in Aβ peptide production and is an attractive therapeutic target to limi

Background Risk factors included in the cardiovascular (CHA2DS2‐VASc) score, currently used for atrial fibrillation (AF), may predispose to cardiovascular events whether or not AF is present. The aim was to explore the predictive role of CHA2DS2‐VASc score on cardiovascular outcomes in diabetic patients without AF. Methods We accessed individual data from 610 diabetic patients without AF at baseli

In this work, the effects of Si doping in GaAs nanowires (NWs) grown on GaAs (111)B by molecular beam epitaxy with different Si doping levels (nominal free carrier concentrations of 1 × 1016, 8 × 1016, 1 × 1018 and 5 × 1018 cm-3) are deeply investigated using scanning electron microscopy (SEM), transmission electron microscopy (TEM), grazing incidence X-ray diffraction (GID), photoluminescence (PL

Climate change will alter precipitation patterns with consequences for soil C cycling. An understanding of how fluctuating soil moisture affects microbial processes is therefore critical to predict responses to future global change. We investigated how long-term experimental field drought influences microbial tolerance to lower moisture levels (“resistance”) and ability to recover when rewetted af

Uppsatsen undersöker hur den danske 1400-talsöversättaren av Thomas à Kempis’ Quattuor libri de imitatione Christi transformerar latinets genitivkonstruktioner till gammaldanska. Särskilt intresse vigs åt omskrivande översättningsförsök, i synnerhet dem medelst preposition. Det konstateras ett samband mellan omskrivning medelst preposition och latinska verbalsubstantiv resp. gerundier böjda i geni