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Deficiency of subunit 6 of the conserved oligomeric Golgi (COG6) complex causes a new combined N-and O-glycosylation deficiency of the congenital disorders of glycosylation, designated as CDG-IIL (COG6-CDG). The index patient presented with a severe neurologic disease characterized by vitamin K deficiency, vomiting, intractable focal seizures, intracranial bleedings and fatal outcome in early infa
Hurler syndrome (HS), the most severe phenotype in the spectrum of mucopolysaccharidosis type I, is caused by a deficiency of the lysosomal enzyme alpha-L-iduronidase (IDUA). At present, hematopoietic stem cell transplantation (HSCT) is the only treatment able to prevent disease progression in the central nervous system, and therefore considered the treatment of choice in HS patients. Because IDUA
Background: Analysis of sialic acid (SA) metabolites in cerebrospinal fluid (CSF) is important for clinical diagnosis. In the present study, a high-performance liquid chromatography-tandem mass spectrometry (HPLC/MS/MS) method for free sialic acid (FSA) and total sialic acid (TSA) in human CSF was validated. Methods: The method utilized a simple sample-preparation procedure of protein precipitatio
As continuous access to energy is necessary for survival, the level of energy stores has a strong effect on fitness and survival. Behaviors by which energy stores are acquired and built up are known as foraging, and this is a very common topic in animal behavior studies. It is especially important for flying organisms to finely tune the level of energy reserves they carry. While most animals will
Many animals store food outside of their own bodies for later consumption, not only birds and mammals, but also invertebrates such as honeybees. I refer to such food storage as hoarding, to distinguish it from internal storage such as in fat deposits. There are two distinct food-hoarding strategies: larder hoarding (all food is stored in one or a few central larders) and scatter hoarding (storage
In the present paper, the effectiveness of a vibration isolation mat for a railway slab track system is studied using a finite element model of the railway track. The finite elements are formulated in a moving frame of reference following the moving load at a particular speed. The rails are modeled using Bernoulli beams, whereas the track slab and an underlying supporting plate are modeled using K
The traditional way to capture rate and amplitude dependence of filled rubbers is by a branched model containing elastic, viscous, and frictional branches, leading to a decoupling of the rate and amplitude dependence. In order to capture the experimentally observed phenomena with a steeper increasing dynamic modulus with frequency, for small amplitudes, a model by Besseling (1958) is revisited. In
The extraordinary adaptability of invertebrates is in no small part due to their sense organs, and particularly their eyes, which help them to find food, locate mates, escape predators and migrate to new habitats. Even though most invertebrates do not see as sharply as we do, many see much better in dim light, can experience many more colours, can see polarised light and can clearly distinguish ex
Migratory birds are well known to use information from the Earth’s magnetic field, stars and the sun for orientation and navigation. Here we give a historical overview of the research findings and techniques which have led to the current knowledge on how migratory songbirds use the Earth’s magnetic field for orientation. We discuss the functions and putative reception mechanisms of the magnetic in
OBJECTIVE: In dynamic susceptibility contrast MRI (DSC-MRI), an arterial input function (AIF) is required to quantify perfusion. However, estimation of the concentration of contrast agent (CA) from magnitude MRI signal data is challenging. A reasonable alternative would be to quantify CA concentration using quantitative susceptibility mapping (QSM), as the CA alters the magnetic susceptibility in
Ground vibration from traffic or construction work in cities is a known source of annoyance to inhabitants. However, vibration and re-radiated noise in buildings caused by exterior sources are seldom treated properly in the design process, which may be due to the lack of methodologies that can aid informed decision-making with respect to environmental vibration. To achieve efficient evaluation of
Wooden multi-story buildings have increased their market share in Europe over the last decades, mainly due to their relatively small carbon footprint and rapid onsite construction. Compared to more conventional heavy concrete buildings, wooden buildings are more sensitive to dynamic loads at low frequencies. Moreover, the dynamic response is generally more difficult to predict. This is, for exampl
Problem: Refugee entrepreneurship has recently garnered a growing academic and political interest around the world. The rate of scientific publication has soared in the last few years due to the scholarly urgency on the topic following the ‘global refugee crises’. Nevertheless, the research field is currently underdeveloped with existing knowledge dispersed across various and often disconnected di
Background: The evidence on the impact of high sugar consumption on micronutrient dilution does not yet allow for the establishment of clear thresholds of consumption. To establish upper and lower limit intake thresholds for added sugar, more studies from different countries and multiple populations are needed. The aim of this study was to examine the association between the intakes of added sugar
The use of wood as load-bearing material in residential and office buildings has increased significantly in Europe over the last decades. Such buildings often have wooden floors built with boards supported by joists and/or beams. The modal properties of such floors are important regarding the floors’ dynamic response to walking and other usage as well as structure-borne vibration and re-radiated n
Massive multiple-input multiple-output (MIMO) promises significantly higher performance relative to conventional multiuser systems. However, the promised gains of massive MIMO systems rely heavily on the accuracy of the absolute front-end calibration, as well as quality of channel estimates at the base station (BS). In this paper, we analyze user equipment-aided calibration mechanism to estimate t
This paper proposes a pragmatic methodology to characterize mutual coupling in uniform linear arrays (ULAs). The classical coupling model used in the literature of multiple input multiple output (MIMO) antenna arrays is based on impedance parameters, resulting valid only for electromagnetically small antennas, e.g. short dipole. To test the robustness and accuracy of the proposed coupling model we
Uric acid is the end product of dietary and endogenous purine metabolism in humans and higher primates. In all lower mammalian species it is converted to allantoin by liver uricase. The aim of this study was to investigate the uric acid turnover in pig model after nephrectomy surgery, fructose-enriched diet and potassium oxonate application. The first experiment was performed using 4 intact contro
