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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
BACKGROUND AND OBJECTIVES: Atrial fibrillation (AF) is associated with inflammation systemically and in the atrial tissue. Oxidized low-density lipoprotein (LDL) is increased in patients with AF and is suggested to be one of the molecules that drives inflammation. Autoantibodies against oxidized LDL and apolipoprotein B100, the protein component of LDL, are linked to atherosclerotic disease. Howev
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
The cutting edge geometry has a significant influence on thermal-mechanical loads and the quality of machined surface in machining operations. In this study, a joint numerical and experimental investigation was conducted to study the effects of tool edge radius on process variables (tool temperatures, force components, stresses) and process dynamics in orthogonal machining Inconel 718. The numeric
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
Background: The use of placebo comparisons for randomised trials assessing the efficacy of surgical interventions is increasingly being considered. However, a placebo control is a complex type of comparison group in the surgical setting and, although powerful, presents many challenges. Objectives: To provide a summary of knowledge on placebo controls in surgical trials and to summarise any recomme
Background Breathlessness is prevalent in severe disease and consists of different dimensions that can be measured using the Multidimensional Dyspnea Profile (MDP) and Dyspnea-12 (D-12). We aimed to evaluate the feasibility of MDP and D-12 over telephone interviews in oxygen-dependent patients, compared with other patient-reported outcomes (modified Medical Research Council (mMRC) and Chronic Obst
The present article describes the approaches of five ensembles specialized in transcultural music-making in the context of contemporary music in Germany, the Netherlands, Uzbekistan and Turkey. While facing similar underlying conceptual and practical challenges in the process of combining different musical traditions and cultural backgrounds, such as the question of how to merge oral and notated t
Hip fractures are a major health problem with high socio-economic costs. Subject-specific finite element (FE) models have been suggested to improve the fracture risk assessment, as compared to clinical tools based on areal bone mineral density, by adding an estimate of bone strength. Typically, such FE models are limited to estimate bone strength and possibly the fracture onset, but do not model t
Objective Survival in epithelial ovarian cancer (EOC) remains poor. Most patients are diagnosed in late stages. Early diagnosis increases the chance of survival. We used the proximity extension assay from Olink Proteomics to search for new protein biomarkers with the potential to improve the diagnostic performance of CA125 and HE4 in patients with ovarian tumors. Material and methods Plasma sample
Background: Atrial fibrillation/atrial flutter (AF/AFL) burden increases with increasing duration of AF/AFL history. Hypothesis: Outcomes with dronedarone may also be impacted by duration of AF/AFL history. Methods: In this post hoc analysis of ATHENA, efficacy and safety of dronedarone vs placebo were assessed in groups categorized by time from first known AF/AFL episode to randomization (ie, dur
