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BACKGROUND: The high prevalence of mixed phenotypes of Early Onset Ataxia (EOA) with comorbid dystonia has shifted the pathogenetic concept from the cerebellum towards the interconnected cerebellar motor network. This paper on EOA with comorbid dystonia (EOA-dystonia) explores the conceptual relationship between the motor phenotype and the cortico-basal-ganglia-ponto-cerebellar network.METHODS: In
Hair can record chemical information reflecting our living conditions, and, therefore, strands of hair have become a potent analytical target within the biological and forensic sciences. While early efforts focused on analyzing complete hair strands in bulk, high spatial resolution mass spectrometry imaging (MSI) has recently come to the forefront of chemical hair-strand analysis. MSI techniques o
Background: In this study we explore if the single domain thesis for adjectives is relevant for children with language impairment (LI). The thesis predicts that if one word from a domain is learned during acertain period, other words from the same domain are more likely to be learned during roughly the same period. Given that the two words in antonym pairs belong to the same semantic domain theass
A depersonalization episode occurred unexpectedly during an electroencephalogram (EEG) recording for a study.Experience reports tracked the time course of this event and, in conjunction, with EEG data, were analyzed. Thesource activity across canonical frequency bands was analyzed across four periods ended by retrospectiveexperience reports (depersonalization was reported in the 2nd period). Delta
Feedback loops are among the core notions in systems thinking – and the various fields of theory and practice that draw on it, including systemic design. We use these notions to develop methodological approaches, conceptualise processes, assess the adequacy of solutions, and anticipate how the design object may interact with its immediate surroundings and beyond. In my presentation, I discuss the
With the growing possibilities in genetic testing, the number of genetic disorders associated with dystonia has constantly increased over the last few years. Accurate phenotyping is crucial to guide and interpret genetic analyses in the search for an etiological diagnosis. Although eye movements examination has proven a valuable tool in the assessment of patients with inherited movement disorders
Attempts to use colloid science concepts to better understand the dynamic properties of concentrated or crowded protein solutions are challenging due to the fact that globular proteins generally have heterogeneous surfaces that result in anisotropic or patchy contributions to their interaction potential. This is particularly difficult when targeting non-equilibrium transitions such as glass and ge
OBJECTIVES: To report the long-term safety and efficacy of BAY 81-8973 in the LEOPOLD Kids extension phase.METHODS: Patients received BAY 81-8973 (25-50 IU/kg) at least twice weekly. The primary endpoint was safety, assessed in all patients who entered the extension phase (n = 82). Efficacy endpoints were assessed in patients without high-titre inhibitors/immune tolerance induction (n = 67).RESULT
This Element is a contribution to a new generation of corpus pragmatics research by taking as its starting point the multifaceted nature of speech acts in conversation, and by adopting a mixed-methods approach. Through a unique combination of theoretical, qualitative, quantitative, and statistical approaches, it provides a detailed investigation of advice-giving and advice uptake in relation to (i
Background and aim: Home rehabilitation is an increasing service in many countries due to the aging population. The body of knowledge in home rehabilitation is growing but results are inconsistent, and there is still lack of knowledge from user perspectives to guide practice and home rehabilitation programs. The purpose of this study was to explore valuable aspects of home rehabilitation experienc
Amino acid starvation in Escherichia coli activates the enzymatic activity of the stringent factor RelA, leading to accumulation of the alarmone nucleotide (p)ppGpp. The alarmone acts as an intercellular messenger to regulate transcription, translation and metabolism to mediate bacterial stress adaptation. The enzymatic activity of RelA is subject to multi-layered allosteric control executed both
Aims The aim is to characterize the underlying epidemiological ideas behind the Swedish COVID-19 strategy in the spring of 2020 and their plausible relation to Swedish exceptionalism and postmodern view of science. The aim is not to finally evaluate the long-term handling of the pandemic in Sweden. Results Overconfidence in natural herd immunity (although not officially stated), individual respons
Horismenus camobiensis sp. nov. (Hymenoptera: Eulophidae), is described based on morphological, molecular and ecological data; this new species of chalcid wasp acts as hyperparasitoid of Opsiphanis invirae (Hübner, 1818) (Lepidoptera: Nymphalidae) in its parasitoid Cotesia invirae Salgado-Neto and Whitfield, 2019 (Hymenoptera: Braconidae). Diagnoses with morphological and molecular characters and
Cutibacterium acnes is one of the most abundant bacteria on the skin. Being exposed to oxygen and oxic stress, the secretion of the bacterial antioxidant protein RoxP ensures an endogenous antioxidant system for the preservation of skin health. To investigate the impact of the antioxidant RoxP on oxidation of the bacteria, wildtype and an isogenic roxp mutant were cultured in anaerobic and oxic co
