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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

d-Amino acids are increasingly being recognized as important signaling molecules in mammals, including humans. d-Serine and d-aspartate are believed to act as signaling molecules in the central nervous system. Interestingly, several other d-amino acids also occur in human plasma, but very little is currently known regarding their function and origin. Abnormal levels of d-amino acids have been impl

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

Wolcott-Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with a EIF2AK3 p.(Arg902Ter) mutation, additionally complicated by hypothyroidism, impaired renal function, and exocrine pancreas insufficiency, focusing on clinical management. For its optimization, thorough care of multiple organ systems is needed.

As international cross-border tax planning increasingly tests domestic legal frameworks,Sweden has relied on a patchwork of different provisions to combat treaty abuse. Throughthe dynamic interplay between its domestic anti-avoidance rules and international treatyprovisions, Sweden has occasionally deployed its targeted Specific Anti-Avoidance Rules(SAARs) and even discussed the possibility of app

Realistic representation of atmospheric aerosol size distribution dynamics in large-scale climate models is important for developing accurate descriptions of aerosol-cloud interactions. Despite the dynamic nature of the distributions, which have large seasonal and diurnal changes, model evaluations often focus on the annual median size distribution. Using more comprehensive monthly and diurnal mod

Mononuclear iron(iv)-oxo, iron(iv)-imido and iron(iv)-nitrido complexes are common catalytic cycle intermediates in enzymes, where the metal is typically linked to the protein through cysteinate or histidine sidechains. Enzymatic high-valent iron(iv)-imido and -nitrido intermediates have never been trapped and characterized; hence, there is uncertainty regarding their structure and function. Using

Some political parties employ clientelist practices to gain voter support. Yet as more citizens now vote from abroad, little is known about parties engaging in clientelism domestically versus transnationally. We propose parties adopt either a replication or differentiation approach, meaning they apply similar or different campaigning strategies abroad. Using a large-N sample of voter turnout in So

This study reports the synthesis and characterization of heterogeneous acid catalysts derived from rice husk biochar, modified by sulfonation and Ce(NO3)3·6H2O (cerium (III) nitrate hexahydrate) impregnation, for fatty acid esterification using methyl acetate as a glycerol-free reaction route. The research aims to valorize agricultural residues as renewable and sustainable precursors for solid aci

Despite major advances in antibody discovery technologies, the successful development of monoclonal antibodies (mAbs) into effective therapeutic and diagnostic agents can often be impeded by developability liabilities, such as poor expression, low solubility, high viscosity and aggregation. Therefore, strategies to predict at the early phases of antibody development the risk of late-stage failure

Objective:Sleep duration has been related to overweight in children, but determinants of sleep duration are unclear. The aims were to investigate the association between sleep duration and childhood overweight adjusted for family characteristics and unhealthy behaviours, to explore determinants of sleep duration and to determine with sleep competing activities.Method:A cross-sectional study was ca

Lateralization is a fundamental property of the human brain that affects perceptual, motor, and cognitive processes. It is now acknowledged that left-right laterality is widespread across vertebrates and even some invertebrates such as fruit flies and bees. Honeybees, which learn to associate an odorant (the conditioned stimulus, CS) with sucrose solution (the unconditioned stimulus, US), recall t

Companies aiming to be 'sustainability leaders' in their sector and governments wanting to support their ambitions need a means to assess the changes required to make a significant difference in the impact of their whole sector. Previous work on scenario analysis/scenario planning demonstrates extensive developments and applications, but as yet few attempts to integrate the 'triple bottom line' co

In the project Melody in Human–Cat Communication (Meowsic) we are using established phonetic methods to collect, annotate, pre-process and analyse domestic cat–human vocal communication. This article describes these methods, and also presents results of meow vocalisations in four different mental states showing variation in fundamental frequency (f0).

Various modal methods are frequently used to investigate the vibration pattern in construction elements of a building in the low frequency range. The experimental determination of time average transmission and reflection coefficient has been developed for the large scale building structures. In this study, we investigate a mock up of a wall/floor junction. The wave approach is combined with the co

Innovation är en kraft som står bakom förändringen i vår vardag. Till exempel att prata med någon på andra sidan jordklotet med en mobil eller beställa dina matvaror eller skor på din smarta mobil. Det var otänkbart för mindre än 40 år sedan. Vi vill naturligtvis att innovationer i vårt samhälle ska fortsätta förbättra våra liv. Men innovationsverksamhet och att generera nya produkter, tjänster, aInnovation measurement and metrics have fascinated scholars from several disciplines over the last decade. Allthese diverse contributions, however, have resulted in a current state of knowledge that is signified by largenumbers of articles without clear integration and synthesis. Therefore, this thesis aims to increase thetheoretical, empirical, and practical understanding of innovation measuremen

In their studies of collective exploitation of common-pool resources, Ostrom and other scholars have stressed the importance of sanctioning as an essential method for preventing overuse and, eventually, the collapse of commons. However, most of the available evidence is based on data covering a relatively small period in history, and thus does not inform us about the evolution of rules, including