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Colchicine may induce a myoneuropathy in patients with renal insufficiency. To date, myotonia has not been described in this disorder. We recently studied 4 patients treated with routine doses of colchicine who, in the setting of renal insufficiency, developed a severe myoneuropathy characterized by prominent myotonic discharges on electromyography. In addition, 1 of the 4 patients had profound cl

Next-generation sequencing (NGS) will soon be used for clinically heterogeneous, inherited disorders and the increasing number of disease-causing genes reported. Diagnostic laboratories therefore need to decide which NGS methods they are going to invest in and how to implement them. We discuss here the challenges and opportunities of using targeted resequencing (TRS) panels for diagnosing monogene

Aim: The aim of the study was to determine whether paediatric ataxia speech subscores are reliably applicable for international early-onset ataxia (EOA) databases. If so, we reasoned that ataxia speech subscores should be associated with ataxia scores and involve high interobserver agreement, including those for internationally applicable Scale for Assessment and Rating of Ataxia (SARA) syllable r

We describe two unrelated cases of ornithine aminotransferase (OAT) deficiency with rare neonatal presentation of hyperammonaemia. The diagnosis in the neonatal presentation of OAT deficiency is hampered as hyperornithinaemia is absent. Enzyme and mutation studies confirmed the diagnosis. OAT deficiency should be included in differential diagnosis of neonatal hyperammonaemia.

Detta är en monografi som förenar den filologiska disciplinens traditionella infallsvinklar (textedition, översättning, litterära och lingvistiska analyser) med modern litteraturteori. Boken ingår i Ellerströms akademiska serie Eureka och innehåller en kritisk textedition av den fornfranska berättelsen Li Lais de l’ombre av Jean Renart (962 verser). Texten är etablerad med utgångspunkt i ett av de

Photosystem I (PSI) is combined with Desulfovibrio gigas hydrogenase for the bioelectrocatalytic photosynthesis of hydrogen at an electrode surface. The activity of these two biocatalysts is linked by two redox polymers; a redox polymer with a relatively positive potential (loaded with an Os complex) is able to reduce PSI and thus facilitates the production of photoexcited electrons, whereas redox

Ionotropic glutamate receptors are tetrameric ligand gated ion channels that mediate in ux and ef ux of metal ions in response to glutamate. Positive allosteric modulators of the ionotropic glutamate receptor 2 (GluA2) are promising lead compounds for drugs against cognitive disorders. These compounds bind within the dimeric interface formed by the receptor ligand binding domains (LBDs) attenuatin

BACKGROUND/AIMS: Mobility disability (MD) and obesity are conditions which have been associated with weaker labour market attachment. This study investigates whether the combined burden of MD and obesity increase the risk of disability pension compared with having only one of these conditions (the reference group).METHODS: A nationwide cohort study, based on national surveys made between 1996 and

Placement errors of object clitics (OCL) in French have been documented in 2L1 and L2 but not in L1 acquisition (Granfeldt 2012; Hamann & Belletti 2006). In the present study, we investigate whether placement errors of third person singular OCLs may be due to cross-linguistic influence. We exposed successive (L1 French/L2 Italian and L1 Italian/L2 French) and simultaneous (2L1 Italian/French) Placement errors of object clitics (OCL) in French have been documented in 2L1 and L2 but not in L1 acquisition (Granfeldt, 2012; Hamann & Belletti, 2006). In the present study, we investigate whether placement errors of third person singular OCLs may be due to cross-linguistic influence. We exposed bilingual children (successive L1 French/L2 Italian and L1 Italian/L2 French and simultaneous 2

The Southern Ocean is split into several biogeographical provinces between convergence zones that separate watermasses of different temperatures. Recent molecular phylogenies have uncovered a strong phylogeographic structure among rockhopper penguin populations, Eudyptes chrysocome sensu lato, from different biogeographical provinces. These studies suggested a reclassification as three species in

This essays focus is to unravel the discourses concerning women by doing a historic-comparative qualitative content analysis on Malleus Maleficarum, written in 1486, and modern papal writings in order to compare the similar or different ways in which the ideal woman is understood. The reason for why these materials have been chosen is based on the influential spread these writing had or have, and

Disney har sedan 30-talet legat i täten för tekniska och artistiska landvinningar och har med sina filmer byggt en kanon som gjort bolaget synonymt med animerad film. Denna uppsats syfte är att undersöka de estetiska beståndsdelar Disneys filmer är uppbyggda av, där fokus ligger vid färgsättningen av de tecknade filmerna. Med hjälp av semiotisk stilanalys behandlas färganvändningarnas utseenden oc

The thesis investigates how the problem of Critical Raw Material supply chains is represented within the European Critical Raw Materials Act of 2023. Bacchi’s ‘What's Problem Represented To Be’ approach has been adapted and utilised to explore what aspects of these supply chains are problematised. By highlighting how the problem of supply chains is represented, this research aims to uncover wh

The aim of this study was to establish whether or not a development of the complexity of the noun phrase, i.e. an increase in noun phrase elaboration could be observed in written L2 Swedish over time. To provide an insight to said development, three on L2 English previously tested and strongly correlating phrasal complexity measures, MLNP, MNPDep and WNPCx (Bulté 2013), were employed. A fourth mea

We report results from a large-scale nutrient fertilization experiment along a "megadiverse" (154 unique species were included in the study) 3,000-m elevation transect in the Peruvian Andes and adjacent lowland Amazonia. Our objectives were to test if nitrogen (N) and phosphorus (P) limitation shift along this elevation gradient, and to determine how an alleviation of nutrient limitation would man