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Congenital disorder of glycosylation (CDG) type Ic, the second largest subtype of CDG, is caused by mutations in human ALG6 (hALG6). This gene encodes the alpha1,3-glucosyltransferase that catalyzes transfer of the first glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. In this report, we describe the first adult patient diagnosed with CDG-Ic, carrying two p
A pin-on-disc tribometer placed in a one-way ventilated chamber was used to investigate the effect of relative humidity on the tribology and airborne particle emission of three commercial railway brake block materials (grey cast iron, organic composite, and sintered). Cast iron showed the highest friction coefficient, particle emission and wear loss and organic composite exhibited the lowest. The
gamma-Trace, a microprotein occurring in neuroendocrine cells, was demonstrated by immunohistochemical technique to be present in the calcitonin-producing C-cells of normal simian thyroid gland and of human medullary thyroid carcinoma. A comparatively high concentration of gamma-trace was demonstrated in tissue extract of neoplastic C-cells. The immunoreactive protein found in the extract had a mo
A brake pad is usually replaced before it is totally worn off. Some of these pads are re-melted as scarps in electrical arc furnace process, arising some concerns for the potential emissions due to the combustion of the organic component of the friction material and pad underlayer. To a lower extent, the other exhaust pads are taken to the scrap yard as waste. The concept of this study is to recyc
The COVID-19 pandemic has yielded extensive impacts globally in the year of 2020. Although the mental health of children and adolescents may be particularly susceptible to stressors stemming from the pandemic and anti-contagion policies, most ongoing efforts are geared toward curbing the viral spread. In the current perspective, we have identified four domains of factors corresponding to an ecolog
The role played by the Internet in young people’s political lives has received great research attention. However, two gaps in the literature hinder the drawing of conclusions on how online political participation is related to its offline counterpart. First, although there are multiple hypotheses on the nature of the relationship, they have not been compared in any single study. Second, although t
The natural moisturizing factor (NMF) is a mixture of small water-soluble compounds present in the upper layer of the skin, stratum corneum (SC). Soaking of SC in water leads to extraction of the NMF molecules, which may influence the SC molecular properties and lead to brittle and dry skin. In this study, we investigate how the molecular dynamics in SC lipid and protein components are affected by
Traumatic brain injury (TBI) increases the risk of delayed neurodegenerative processes, including Parkinson’s disease (PD). Interleukin-1beta (IL-1β), a key pro-inflammatory cytokine, may promote secondary injury development after TBI. Conversely, neutralizing IL-1β was found to improve functional recovery following experimental TBI. However, the mechanisms underlying the behavioral improvements o
In this article, we argue that basic social policy concepts can fertilise the discussion on active labour market policy (ALMP). During the last decades, research on ALMP has become a flourishing field. This is an overall positive development. However, the development tends to fractionate the wider picture of social policy and distance the discussion from social policy seen as a multifold set of go
This paper presents an experimental study carried out to investigate the behavior of concentrically loaded concrete columns confined with steel-reinforced polymer (SRP) jackets. Several parameters, i.e. size of the specimen, shape of the cross-section, number of layers, and density of steel fiber sheet are investigated. Axial and hoop strain contours on the surface of the composite are obtained wi
Introduction: This article explores explanations for attitudes towards the acceptability of transactional sex. The sparse research investigating attitudes towards transactional sex uncovers a link between gender equality, or feminism, and a lack of support for the trade in sex. However, there are no research agendas that attempt to explain variance in attitudes towards transactional sex where supp
We used in situ hybridization histochemistry to study the expression of the mRNA of the two vesicular monoamine transporters (VMAT1 and VMAT2) during embryonic and postnatal development of the central nervous system (CNS) int he rat. In the adult rat, VMAT2 mRNA is present exclusively in monoaminergic cell groups of the CNS and VMAT1 mRNA was reported to be present in the adrenal medulla and certa
Background: Evidence suggests that sleep deprivation associated with night-time working may adversely affect performance resulting in a reduction in the safety of surgery and anaesthesia.Objective: Our primary objective was to evaluate an association between nonelective night-time surgery and in-hospital mortality. We hypothesised that urgent surgery performed during the night was associated with
In this article, I explore the reception of American “quality” serial television in Sweden from 1999 to the mid-2010s. My analysis includes how cultural critics and journalists writing for Sweden's leading newspapers conceptualised American serial television as “quality TV” and as legitimate “art”, and it charts the ways in which these discourses relate to the reconfiguration of Swedish television
Context. The detection of a super-Earth and three mini-Neptunes transiting the bright (V = 9.2 mag) star HD 108236 (also known as TOI-1233) was recently reported on the basis of TESS and ground-based light curves. Aims. We perform a first characterisation of the HD 108236 planetary system through high-precision CHEOPS photometry and improve the transit ephemerides and system parameters. Methods. W
Type 3 diabetes (T3D) accurately reflects that dementia, e.g., Alzheimer’s disease, represents insulin resistance and neurodegeneration in the brain. Similar retinal microvascular changes were observed in Alzheimer’s and chronic stressed individuals. Hence, we aimed to show that chronic stress relates to T3D dementia signs and retinopathy, ultimately comprising a Stress syndrome prototype reflecti
Many biological and neural systems can be seen as networks of interacting periodic processes. Importantly, their functionality, i.e., whether these networks can perform their function or not, depends on the emerging collective dynamics of the network. Synchrony of oscillations is one of the most prominent examples of such collective behavior and has been associated both with function and dysfuncti
