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3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is considered to be a rare cause of congenital microcephaly, infantile onset of intractable seizures and severe psychomotor retardation. Here, we report for the first time a very mild form of genetically confirmed 3-PGDH deficiency in two siblings with juvenile onset of absence seizures and mild developmental delay. Amino acid analysis showed se
Amino acids are not only indispensable for protein synthesis but also play important cellular functions. In this chapter, the central nervous system (CNS) functions of serine, glycine, and threonine are discussed. Both the specific functions of the aforementioned amino acids and the functions of their derivatives are reviewed in relation to brain development and neurotransmission. In particular, f
Congenital microcephaly, intractable seizures and severe psychomotor retardation characterize 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, a disorder of L-serine biosynthesis. The enzyme defect results in low concentrations of serine and to a variable degree of glycine in plasma and cerebrospinal fluid. Short-term beneficial effects have been reported of oral treatment with the deficient
BACKGROUND: TKA generally has excellent long-term survivorship. When a new knee system supersedes a previous model, increased survivorship, improved functional performance, or both may be expected, because key areas of design modification are often targeted to address wear, stability, and the patellofemoral articulation. However, not all design changes are beneficial, and to our knowledge, knee ar
The sedimentation of a suspension is a unit operation widely used in mineral processing, chemical engineering,wastewater treatment, and other industrial applications. Mathematical models that describe these processes and may be employed for simulation, design and control are usually given as nonlinear, time-dependent partial differential equations that in one space dimension include strongly degen
Aims: The Atrophodermas include a large group of disorders appearing as localized or widespread depressed skin areas and characterized by underlying dermal atrophy. The present study aims to report a peculiar form of previously unreported focal dermal atrophy. Methods: We studied over a period of 5 years a boy who manifested, since birth, multiple hypopigmented cutaneous atrophic lesions of the at
Purpose: This paper has chosen a participatory action design (PAD) to approach the construction of KPIs in a novel way. A PAD will assist the researcher to encourage involvement, engagement of multiple stakeholders in the KPIs construction process. Design/methodology/approach: A workshop series based on participatory action design was developed together with the researcher and stakeholders at the
Recent advances in 3D bioprinting allow for generating intricate structures with dimensions relevant for human tissue, but suitable bioinks for producing translationally relevant tissue with complex geometries remain unidentified. Here, a tissue-specific hybrid bioink is described, composed of a natural polymer, alginate, reinforced with extracellular matrix derived from decellularized tissue (rEC
This study aims at assess the importance of a conceptual representation of hydrological processes when modelling atmospheric circulation. It compares results from a regional atmospheric model that interprets land surface hydrological processes based on parameterizations with results from a two-way coupled atmosphere-hydrological model that has a process-based approach to the land surface hydrologi
Considering the widespread contaminations of food products with mycotoxins, it is important to develop, robust, time- and cost-effective detection methods. We developed and optimized an immunoassay using a continuous flow system for the detection of zearalenone (ZEN). The assay was performed in a flow mode using an automated sequential injection system. Time for an assay cycle was 18 Min. Under op
Background: Terlipressin has been suggested as the ideal drug to treat anesthesia-induced hypotension in patients under long-term renin-angiotensin system inhibitor treatment for arterial hypertension. The authors compared the effects of terlipressin and norepinephrine on systemic hemodynamic parameters and gastric mucosal perfusion using a laser Doppler flowmetry technique in patients treated wit
For years, safety improvements have been made by evaluating incident reports and analyzing errors and violations. Current developments in safety science, however, challenge the idea that safety can meaning-fully be be seen as the absence of errors or other negatives. Instead, the question becomes whether a company is aware of positive ways in which people, at all level of the organisation, contrib
Background. To inform their health decisions, patients may seek narratives describing other patients' evaluations of their treatment experiences. Narratives can provide anti-treatment or pro-treatment evaluative meaning that low-numerate patients may especially struggle to derive from statistical information. Here, we examined whether anti-vaccine (v. pro-vaccine) narratives had relatively stronge
Plastics are versatile, cheap and durable materials that are omnipresent in modern society. Since most of them are derived from crude oil and are not biodegradable, their production leads to the depletion of fossil fuels and the accumulation of enormous amounts of plastic waste that pollutes ecosystems worldwide. For this reason, the European Union and other organisations are investing in research
