Background In patients with GTP-cyclohydrolase deficient dopa-responsive dystonia (DRD) the occurrence of associated non-motor symptoms (NMS) is to be expected. Earlier studies report conflicting results with regard to the nature and severity of NMS. The aim of our study was to investigate the prevalence of psychiatric disorders, sleep problems, fatigue and health-related quality of life (HR-QoL)

BACKGROUND: Rapid diagnostic whole-genome sequencing has been explored in critically ill newborns, hoping to improve their clinical care and replace time-consuming and/or invasive diagnostic testing. A previous retrospective study in a research setting showed promising results with diagnoses in 57%, but patients were highly selected for known and likely Mendelian disorders. The aim of our prospect

Background: North Sea Progressive Myoclonus Epilepsy is a rare and severe disorder caused by mutations in the GOSR2 gene. It is clinically characterized by progressive myoclonus, seizures, early-onset ataxia and areflexia. As in other progressive myoclonus epilepsies, the efficacy of antiepileptic drugs is disappointingly limited in North Sea Progressive Myoclonus Epilepsy. The ketogenic diet and

Background: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic me

Background: Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next-generation sequencing techniques such as gene panel analysis can be effective in diagnosing heterogeneous conditions. The objective of this study was to investigate whether dystonia patients with a suspected genetic cause could benefit from the use of gene panel analysis. Methods: In th

We present Gene-Aware Variant INterpretation (GAVIN), a new method that accurately classifies variants for clinical diagnostic purposes. Classifications are based on gene-specific calibrations of allele frequencies from the ExAC database, likely variant impact using SnpEff, and estimated deleteriousness based on CADD scores for >3000 genes. In a benchmark on 18 clinical gene sets, we achieve a sen

In my dissertation the method to describe semantic change used in the Swedish Academy dictionary (SAOB) is compared with cognitive semantic models of such a change. The work of SAOB is theoretically unbound in terms of overarching semantic theories, and the methods of describing word meaning and semantic change in the dictionary are rather developed for pragmatic reasons (such as consistency and e

The dynamical properties of large-scale, long-term phase synchronization behavior in the alpha range of electroencephalographic signals were investigated. We observed dynamical phase synchronization and presented evidence of an underlying spatiotemporal ordering. Fluctuations in the duration of episodes of intermittent synchrony are scale-invariant. Moreover, the exponent used to describe this beh

This thesis consists of three self-contained papers. The first paper, Sorting on Unobserved Skills into New Firms, adds to the literature on worker characteristics and post-entry firm performance by putting the unobserved quality of workers in the center of analysis. Although human capital features prominently in theoretical work on the post-entry performance of new firms, empirical analysis has l

The purpose of this paper is to enhance our understanding of the notions and conceptual foundations of assurance in the standard setting arena. This will facilitate an informed discussion of the challenges and the role of assurance within an increasingly complex and fragmented corporate reporting regulatory landscape. The study draws on relevant literature on sustainability assurance and an analys

To investigate the genetic identities of the mucins secreted in cystic fibrosis (CF) airways, sputum was collected from five individuals. Samples were separated into gel and sol phases by high-speed centrifugation and the gel phase was extracted in 6 M guanidinium chloride. The 'insoluble' residue remaining after extraction of the gel phase was brought into solution by reduction/alkylation. Densit

We use the Twitter-based Hedonometer happiness index to study the link between happiness and gold price changes. We find no significant correlation between the two when we look at correlations across the entire distributions. However, turning to an extreme value theory (EVT) modeling of the tails of the non-normally distributed happiness distribution we find that during particularly depressing day

Hurler syndrome (HS) is a lysosomal storage disease characterized by multisystem morbidity and death in early childhood. Hematopoietic stem cell transplantation (HSCT) results in long-term survival, although with significant residual disease burden. How this residual disease affects the health-related quality of life is unknown. Therefore, we conducted a multicenter cohort study on functional and

Early perceptual grouping was studied using 256-channels event-related potentials in a choice response task. The task involved the detection of a triangle configuration of Gabor patches among patches of different spatial frequencies. The influence of two task-irrelevant factors was compared. One was the spatial proximity relation between the target patches and the other their relative orientation,