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Background: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic me
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
Lion faecal samples, collected in the field between 1 hour to 1 week after defecation were preserved in three different media (ethanol, ASL buffer and Two-step storage). The aim was to determine which faecal DNA field preservation method best enhances PCR amplification success. Samples stored in ethanol showed a significantly higher amplification success of microsatellite loci than samples stored
Conifer feeding bark beetles (Coleoptera, Curculionidae, Scolytinae) pose a serious economic threat to forest production. Volatiles released by non-host angiosperm plants (so called non-host volatiles, NHV) have been shown to reduce the risk of attack by many bark beetle species, including the European spruce bark beetle, Ips typographus. However, the most active blend for I. typographus, containi
A dye-binding method using Acid Orange 12 was investigated regarding its suitability for the quantification of available lysine, as a means of monitoring the Maillard reaction in skim milk powders. The method was evaluated by analyzing a wide range of milk powders produced by three different drying methods and stored under various conditions. A pilot-scale freeze-dryer, spray-dryer and drum-dryer
The presence of different time scales in a dynamic model significantly hampers the efficiency of its simulation. In multibody systems the fact is particularly relevant, as the mentioned time scales may be very different, due for example to the coexistence of mechanical components controlled by electronic drive units, and may also appear in conjunction with significant nonlinearities. This paper pr
Alzheimer's Disease (AD) is the most prevalent form of dementia worldwide, yet the development of therapeutics has been hampered by the absence of suitable biomarkers to diagnose the disease in its early stages prior to the formation of amyloid plaques and the occurrence of irreversible neuronal damage. Since oligomeric A beta species have been implicated in the pathophysiology of AD, we reasoned
Objectives: We evaluated a method for gas monitoring in the mastoid cavity using tunable diode laser spectroscopy by comparing it to simultaneously obtained computed tomographic (CT) scans. Methods: The presented optical technique measures free gases, oxygen (O2), and water vapor (H2O) within human tissue by use of low-power diode lasers. Laser light was sent into the tip of the mastoid process
It is frequently observed that the local relative abundances of aquatic microbial taxa are correlated with their average relative abundance at the regional scale, which results in the composition of different communities being more similar than expected by chance or invariant. The degree to which communities within a region match the regional average community is variable and likely depends on sev
This thesis aimed to search for etiological clues about cancer of unknown primary(CUP) by gathering novel information. The Swedish national registries were used and CUP cases were identified according to the seventh revision of the International Classification of Diseases. A consistent increase before the late 1990s and a dramatic decrease afterwards were observed for CUP incidence among Swedes,re
Popular science summary: The Battle Against Cancer Daily, people are diagnosed with cancer, a disease that brings suffering and despair. I'm sure you have heard about chemotherapy and radiation as a way of trying to treat cancer, but it is equally important to find an effective method to quickly and reliably detect a tumor at an early stage, before it is too late. In my master's thesis,
A critical stage for the construction of steel-concrete composite bridges occurs during casting of the bridge deck, when the wet concrete has still not hardened. The entire construction load is then taken by the non-composite steel sections. Bracing may be needed to make the slender girders rigid enough to resist lateral torsional buckling during this phase. If temporary formwork could be attached
The Archaean Yilgarn craton in Western Australia is a granite greenstone belt with abundant economically important mineral reserves, including several world-class gold deposits such as the giant Kalgoorlie deposit. Structural controls on gold deposition and the fact that most deposits were formed later in the craton’s tectonic history, has resulted in the general acceptance of a late-orogenic str
This master thesis work consists of the development of new hardware and software for the control box of an azimuthal guidance system used by aircrafts during the approach to the runway. The thesis work was done at Safegate International AB as a project running along the usual development projects. When designing electronics to be used on an airfield there are a lot of regulations and standards t
Ambiguity and controversy abounds the debate over the thousands of people trying to enter the European territory and their rights, especially in their procedural form. This paper explores the latest developments in the context of the European Court of Human Rights’ and the European Court of Justice’s expansive interpretation of the right to an effective remedy and the procedural guarantees afforde
The striatum is the main input nucleus of the basal ganglia. Striatal subregions, which play different roles in motor functions, receive inputs from different cortical regions. Regulation of synaptic plasticity at the level of corticostriatal synapses is believed to underlie habit formation and motor learning. Alteration of plasticity at the level of corticostriatal synapses has been associated wi
