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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.
This study is concerned with the integration of negation in relation to two models of the processing of negation: (i) the two-step model (Lüdtke et al., 2008), according to which negation involves two representations where negation is ignored in the first representation, and (ii) the pragmatic view (Nieuwland & Kuperberg, 2008), which posits that negation can be integrated without delay if it
Paenibacillus larvae, causative agent of American Foulbrood (AFB), is the primary bacterial pathogen affecting honeybees and beekeeping. The main methods for controlling AFB are incineration of diseased colonies or prophylactic antibiotic treatment (e.g. tylosin), neither of which is fully satisfactory. The search for superior means for controlling AFB has led to an increased interest in the natur
A number of deleterious health effects have been identified from exposure to outdoor air-borne particulate matter. This issue is complicated by the fact that people are spending most of the time indoors, where particles of both indoor and outdoor origin are present. The aim of this work was to assess the differences in particle chemical composition inside and outside of the residence and gain bett
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
Allogeneic islet transplantation can restore an insulin-independent state in C-peptide-negative type 1 diabetic patients. We recently reported three cases of surviving islet allografts that were implanted in type 1 diabetic patients under maintenance immune suppression for a previous kidney graft. The present study compares islet graft-specific cellular auto- and alloreactivity in peripheral blood
Fast kicker systems are required for the proposed upgrade of ALS to a diffraction-limited light source (ALS-U). The main approach is to have multiple stripline kicker magnets driven by inductive adders. The design details of the kicker structures and the inductive adder options will be discussed.
Following intense research efforts, modulation of the immune system has finally proved to be a viable approach for treating malignant disease. Recently, chimeric antigen receptor redirected T cells have achieved promising outcomes in patients with B-cell malignancies and they are currently also being investigated in other haematological malignancies, solid tumours and viral infections. Compared wi
Diffusion tensor distribution (DTD) imaging builds on principles from diffusion, solid-state and low-field NMR spectroscopies, to quantify the contents of heterogeneous voxels as nonparametric distributions, with tensor “size”, “shape” and orientation having direct relations to corresponding microstructural properties of biological tissues. The approach requires the acquisition of multiple images
The new luminescent carbonyl compounds [Mn(Oxa-H)(CO)3Br] (1) and [Mn(Oxa-NMe2)(CO)3Br] (2) were synthesized and fully characterized. Complexes 1 and 2 showed CO release under blue light (λ453). Spectroscopic techniques and TD-DFT and SOC-TD-DFT calculations indicated that 1 and 2 release the Oxa-H and Oxa-NMe2 coligands in addition to the carbonyl ligands, increasing the luminescence during photo
Phenotypic evolution through deep time is slower than expected from microevolutionary rates. This is the paradox of stasis. Previous models suggest stasis occurs because populations track adaptive peaks that remain relatively stable on million-year intervals, raising the equally perplexing question of why these large changes are so rare. Here, we consider the possibility that peaks can move more r
The impact of soil metal pollution on plant communities has been studied extensively in the past.However, very little is known about the fungal species that co-occur with these plant communities onmetal polluted soils.We characterized the belowground fungal community in a heavy metal polluted anda non-polluted soil using 454 pyrosequencing. The fungal communities at both study sites were shown toc
The influences on gene expression by codons at positions +2, +3, +5 and +7 downstream of the initiation codon have been compared. Most of the +2 codons that are known to give low gene expression are associated with a higher expression if placed at the later positions. The NGG codons AGG, CGG, UGG and GGG, but not GGN or GNG (where N is non-G), are unique since they are associated with a very low g
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 this article, we describe a new command, xtbcfe, that performs the iterative bootstrap-based bias correction for the fixed-effects estimator in dynamic panels proposed by Everaert and Pozzi (2007, Journal of Economic Dynamics and Control 31: 1160–1184). We first simplify the core of their algorithm by using the invariance principle and subsequently extend it to allow for unbalanced and higher o
