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Background and purpose: Pyruvate dehydrogenase complex deficiency is in up to 90% caused by pathogenic variants in the X-linked PDHA1 gene. We aimed to investigate female relatives of index patients with PDHA1-related disease to (i) describe the prevalence of female PDHA1 carriers, (ii) determine whether they had symptoms and signs, and (iii) delineate the associated phenotype. Methods: In a natio

Abstract in UndeterminedThe aim of this study is to compare the syntax of French and Swedish inserted (parenthetical) clauses appearing after a direct quotation. More specifically, the study explores the relationship between the French gérondif and the Swedish “V1 och V2” construction in contexts such as dit-elle en souriant / sa hon och log. The analysis is based on a translation corpus, comprisi

This perspective article explores how sustainability transitions experience a geo-economization based on rising concerns about sovereignty. We argue that sovereignty has yet again become an active force structuring socio-technical trajectories. In this case, socio-technical systems tend to be reconfigured in ways that first and foremost ensure the continued provision of their core societal functio

Abstract in French La thèse est un commentaire et une traduction en francais d'un ancien mansucrit suédois, Codex Verelianus, qui relate l'histoire en prose de Namnlös och Valentin,un récit initialement francais mais dont l'original est perdu. Le texte fut édité en 1846 en suédois dans Samlingar utgifna av svenska fornskrift-sällskapet par Gustaf Edward Klemming. Le roman, qui est probablement bas

Abstract not available

The present article departs from the increased significance ascribed to questions concerning arts and aesthetics in contemporary academic theology as well as in church life. This development is given the designation ‘aesthetical turn’ and the content of the article tries to, in a broad outline, situate this phenomenon in the history of philosophical reflection on aesthetic issues. Originally an En

Waardenburg-Shah syndrome (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, sensorineural hearing loss, and Hirschsprung disease (HSCR). Mutations in the endothelin-B receptor (EDNRB) gene on 13q22 have been found to cause this syndrome. Mutations in both alleles cause the full phenotype,

Social insects such as termites live in colonies in which cooperation is assumed by all individuals developing into castes to which specific tasks are allocated. Little has been reported about molecular aspects underlying termite caste-specific gene expression. Genetic regulation has recently been hypothesized to govern caste-specific traits and physiology in social insects. Cytochrome c oxidase (

Lactobacillus acidophilus DSM 20079 is the producer of a novel bacteriocin termed acidocin D20079. In this paper, a partial sequence of this peptide is determined, together with data on its secondary structure. A modification of the MRS-growth medium (replacing the detergent Tween 80 with oleic acid), was shown to improve the production level of the peptide by one order of magnitude, as well as to

Some products are considered to be 'bad taste' and therefore of less value. However, if we focus on what a product does to and for its users, rather than on what a product is, we can disregard superficial statements based on taste, and instead reach a better understanding of design. This reasoning is based on the relationship between 'good taste' and 'good design', terms which are sometimes confus

There is a great potential for phasor measurement applications in Scandinavia, mainly due to the long distance power transmission and limited transmission capacity expansion possibilities. Smart control, based on phasor measurements, can be used as an alternative to additional transmission lines, to increase power transmission capacity. Also the matter of damping is more and more becoming a key is

The aim of the present work is to describe the semantics and the discursive functions from a general cognitivist point of view of the usage of the Present Perfect in the spoken Spanish of Chile, Paraguay and Uruguay. It is argued that cross-linguistic values that prevailing theories often ascribe to perfect, such as continuity, current relevance and recency to the speech time –ST– do not offer a c

While the effects of elevated atmospheric CO2 level on starch and sugar metabolism have been extensively studied in different plants, the effect on plant lipid metabolism concerns only a few studies and none of these are on the model plant Arabidopsis thaliana. This study of the lipid composition in seeds and leaves of A. thaliana is therefore of interest when trying to predict how the future envi

Helicobacter species have been isolated and cultured from both the gastric and enterohepatic niches of the gastrointestinal tract and are associated with a wide spectrum of diseases. Some members of the enterohepatic Helicobacter species (EHS), which include Helicobacter bilis, Helicobacter hepaticus and Helicobacter pullorum, are associated with chronic inflammatory and proliferative bowel inflam

Recent studies have highlighted the involvement of rare (<1% frequency) copy-number variations and point mutations in the genetic etiology of autism spectrum disorder (ASD); these variants particularly affect genes involved in the neuronal synaptic complex. The SHANK gene family consists of three members (SHANK1, SHANK2, and SHANK3), which encode scaffolding proteins required for the proper format