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2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
(2020)
Background: 2-methylacetoacetyl-coenzyme A thiolase deficiency (MATD; deficiency of mitochondrial acetoacetyl-coenzyme A thiolase T2/ “beta-ketothiolase”) is an autosomal recessive disorder of ketone body utilization and isoleucine degradation due to mutations in ACAT1.
Methods: We performed a systematic literature search for all available clinical descriptions of patients with MATD. Two hundred forty-four patients were identified and included in this analysis. Clinical course and biochemical data are presented and discussed.
Results: For 89.6% of patients at least one acute metabolic decompensation was reported. Age at first symptoms ranged from 2 days to 8 years (median 12 months). More than 82% of patients presented in the first 2 years of life, while manifestation in the neonatal period was the exception (3.4%). 77.0% (157 of 204 patients) of patients showed normal psychomotor development without neurologic abnormalities. Conclusion: This comprehensive data analysis provides a systematic overview on all cases with MATD identified in the literature. It demonstrates that MATD is a rather benign disorder with often favourable outcome, when compared with many other organic acidurias.
Background: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL.
Method: We performed a systematic literature search to identify all published cases. Two hundred eleven patients of whom relevant clinical data were available were included in this analysis. Clinical course, biochemical findings and mutation data are highlighted and discussed. An overview on all published HMGCL variants is provided.
Results: More than 95% of patients presented with acute metabolic decompensation. Most patients manifested within the first year of life, 42.4% already neonatally. Very few individuals remained asymptomatic. The neurologic long-term outcome was favorable with 62.6% of patients showing normal development.
Conclusion: This comprehensive data analysis provides a systematic overview on all published cases with HMGCLD including a list of all known HMGCL mutations.
The simultaneous operation of multiple different semiconducting metal oxide (MOX) gas sensors is demanding for the readout circuitry. The challenge results from the strongly varying signal intensities of the various sensor types to the target gas. While some sensors change their resistance only slightly, other types can react with a resistive change over a range of several decades. Therefore, a suitable readout circuit has to be able to capture all these resistive variations, requiring it to have a very large dynamic range. This work presents a compact embedded system that provides a full, high range input interface (readout and heater management) for MOX sensor operation. The system is modular and consists of a central mainboard that holds up to eight sensor-modules, each capable of supporting up to two MOX sensors, therefore supporting a total maximum of 16 different sensors. Its wide input range is archived using the resistance-to-time measurement method. The system is solely built with commercial off-the-shelf components and tested over a range spanning from 100Ω to 5 GΩ (9.7 decades) with an average measurement error of 0.27% and a maximum error of 2.11%. The heater management uses a well-tested power-circuit and supports multiple modes of operation, hence enabling the system to be used in highly automated measurement applications. The experimental part of this work presents the results of an exemplary screening of 16 sensors, which was performed to evaluate the system’s performance.
Failure prognostic builds up on constant data acquisition and processing and fault diagnosis and is an essential part of predictive maintenance of smart manufacturing systems enabling condition based maintenance, optimised use of plant equipment, improved uptime and yield and to prevent safety problems. Given known control inputs into a plant and real sensor outputs or simulated measurements, the model-based part of the proposed hybrid method provides numerical values of unknown parameter degradation functions at sampling time points by the evaluation of equations that have been derived offline from a bicausal diagnostic bond graph. These numerical values are computed concurrently to the constant monitoring of a system and are stored in a buffer of fixed length. The data-driven part of the method provides a sequence of remaining useful life estimates by repeated projection of the parameter degradation into the future based on the use of values in a sliding time window. Existing software can be used to determine the best fitting function and can account for its random parameters. The continuous parameter estimation and their projection into the future can be performed in parallel for multiple isolated simultaneous parametric faults on a multicore, multiprocessor computer.
The proposed hybrid bond graph model-based, data-driven method is verified by an offline simulation case study of a typical power electronic circuit. It can be used to implement embedded systems that enable cooperating machines in smart manufacturing to perform prognostic themselves.
Striated muscle contraction is regulated by the translocation of troponin-tropomyosin strands over the thin filament surface. Relaxation relies partly on highly-favorable, conformation-dependent electrostatic contacts between actin and tropomyosin, which position tropomyosin such that it impedes actomyosin associations. Impaired relaxation and hypercontractile properties are hallmarks of various muscle disorders. The α-cardiac actin M305L hypertrophic cardiomyopathy-causing mutation lies near residues that help confine tropomyosin to an inhibitory position along thin filaments. Here, we investigate M305L actin in vivo, in vitro, and in silico to resolve emergent pathological properties and disease mechanisms. Our data suggest the mutation reduces actin flexibility and distorts the actin-tropomyosin electrostatic energy landscape that, in muscle, result in aberrant contractile inhibition and excessive force. Thus, actin flexibility may be required to establish and maintain interfacial contacts with tropomyosin as well as facilitate its movement over distinct actin surface features and is, therefore, likely necessary for proper regulation of contraction.
Are There Extended Cognitive Improvements from Different Kinds of Acute Bouts of Physical Activity?
(2020)
Acute bouts of physical activity of at least moderate intensity have shown to enhance cognition in young as well as older adults. This effect has been observed for different kinds of activities such as aerobic or strength and coordination training. However, only few studies have directly compared these activities regarding their effectiveness. Further, most previous studies have mainly focused on inhibition and have not examined other important core executive functions (i.e., updating, switching) which are essential for our behavior in daily life (e.g., staying focused, resisting temptations, thinking before acting), as well. Therefore, this study aimed to directly compare two kinds of activities, aerobic and coordinative, and examine how they might affect executive functions (i.e., inhibition, updating, and switching) in a test-retest protocol. It is interesting for practical implications, as coordinative exercises, for example, require little space and would be preferable in settings such as an office or a classroom. Furthermore, we designed our experiment in such a way that learning effects were controlled. Then, we tested the influence of acute bouts of physical activity on the executive functioning in both young and older adults (young 16–22 years, old 65–80 years). Overall, we found no differences between aerobic and coordinative activities and, in fact, benefits from physical activities occurred only in the updating tasks in young adults. Additionally, we also showed some learning effects that might influence the results. Thus, it is important to control cognitive tests for learning effects in test-retest studies as well as to analyze effects from physical activity on a construct level of executive functions.
In der heutigen Zeit nimmt die Bedeutung schlanker und effektiver Prozesse in Unternehmen vor dem Hintergrund des Wettbewerbs sowie Kostendrucks stetig zu. Um dieser Herausforderung entgegenzuwirken, fokussieren sich Unternehmen auf die Identifikation neuer innovativer Potenziale. Aufgrund der Tatsache, dass monotone und regelbasierte Prozesse durch Softwareroboter automatisiert werden können, ist das Interesse an Robotic Process Automation (RPA) in den letzten Jahren stetig gestiegen. Bevor sich Unternehmen allerdings für oder gegen den Einsatz von RPA entscheiden, ist es zunächst notwendig, dass die Entscheidungsträger ein Verständnis von RPA erlangen sowie die entsprechenden Einsatzpotenziale und Risiken einschätzen können. Dieser Artikel trägt diesem Bedürfnis Rechnung, indem es diese auf Basis einer Literaturrecherche ermittelt und bewertet. Im Ausblick wird das zukünftige Potenzial von RPA eingeschätzt.
Carbachol dimers with primary carbamate groups as homobivalent modulators of muscarinic receptors
(2020)
Background: Coniferous woods (Abies nordmanniana (Stev.) Spach, Abies procera Rehd, Picea abies (L.) H.Karst, and Picea pungens Engelm.) could contain useful secondary metabolites to produce sustainable packaging materials, e.g., by substitution of harmful petrol-based additives in plastic packaging. This study aims to characterise the antioxidant and light-absorbing properties and ingredients of different coniferous wood extracts with regard to different plant fragments and drying conditions. Furthermore, the valorisation of used Christmas trees is evaluated. Methods: Different drying and extraction techniques were applied with the extracts being characterised by determining the total phenolic content (TPC), total antioxidant capacity (TAC), and absorbance in the ultraviolet range (UV). Gas chromatography coupled with mass spectrometry (GC-MS) and an acid–butanol assay (ABA) were used to characterise the extract constituents. Results: All the extracts show a considerably high UV absorbance while interspecies differences did occur. All the fresh and some of the dried biomass extracts reached utilisable TAC and TPC values. A simplified extraction setup for industrial application is evaluated; comparable TAC results could be reached with modifications. Conclusion: Coniferous woods are a promising renewable resource for preparation of sustainable antioxidants and photostabilisers. This particularly applies to Christmas trees used for up to 12 days. After extraction, the biomass can be fully valorised by incorporation in paper packaging.
Miscanthus crops possess very attractive properties such as high photosynthesis yield and carbon fixation rate. Because of these properties, it is currently considered for use in second-generation biorefineries. Here we analyze the differences in chemical composition between M. x giganteus, a commonly studied Miscanthus genotype, and M. nagara, which is relatively understudied but has useful properties such as increased frost resistance and higher stem stability. Samples of M. x giganteus (Gig35) and M. nagara (NagG10) have been separated by plant portion (leaves and stems) in order to isolate the corresponding lignins. The organosolv process was used for biomass pulping (80% ethanol solution, 170 °C, 15 bar). Biomass composition and lignin structure analysis were performed using composition analysis, Fourier-transform infrared (FTIR), ultraviolet-visible (UV-Vis) and nuclear magnetic resonance (NMR) spectroscopy, thermogravimetric analysis (TGA), size exclusion chromatography (SEC) and pyrolysis gas-chromatography/mass spectrometry (Py-GC/MS) to determine the 3D structure of the isolated lignins, monolignol ratio and most abundant linkages depending on genotype and harvesting season. SEC data showed significant differences in the molecular weight and polydispersity indices for stem versus leaf-derived lignins. Py-GC/MS and hetero-nuclear single quantum correlation (HSQC) NMR revealed different monolignol compositions for the two genotypes (Gig35, NagG10). The monolignol ratio is slightly influenced by the time of harvest: stem-derived lignins of M. nagara showed increasing H and decreasing G unit content over the studied harvesting period (December–April).
Comparing Non-Visual and Visual Guidance Methods for Narrow Field of View Augmented Reality Displays
(2020)
Coumarin as a structural component of substrates and probes for serine and cysteine proteases
(2020)
This article explores the opportunities, challenges, as well as the activities of the Chinese governmental and commercial stakeholders to promote cross-border e-commerce trade between China and Africa, based on the classification and correlation analysis of the literature from 2011 to 2019. The results show that the biggest driver for the development of China-Africa cross-border e-commerce trade is the gap between the rapid growth of the African population, especially the middle class, and the limited local capability to satisfy their demand. The rapid development of the internet and mobile internet is another driving factor. The biggest challenge is the last mile delivery of logistics, and online payment issues in Africa. At the macro-level the Chinese government has promoted measures such as infrastructure investment, e-commerce test zones and the establishment of pilot projects. At the firm level, Chinese companies have focused on solving practical micro-level local operational problems such as logistics, online payment, and talent training. The results also show that the referred literature is still in its infancy, mostly theoretical and less practical, and requires more in-depth domain specific analysis in the future.
Medien spielen eine Schlüsselrolle für die öffentliche Meinung und Akzeptanz neuer Technologien. Mit einer qualitativen Inhaltsanalyse journalistischer Artikel zum Elektrofahrrad wurden Akteure und ihre Einstellungen und Handlungen in Bezug auf das Elektrofahrrad untersucht. In die Analyse flossen 444 Artikel ausgewählter deutscher Qualitätsmedien aus dem Jahr 2018 ein. Die Untersuchung zeigt den gesellschaftlich relevanten Diskurs über Elektrofahrräder auf und bietet Anknüpfungspunkte für die Förderung von Individualmobilität und der Entwicklung zukunftsfähiger Mobilitätskonzepte.
Bedingt durch die fortlaufende Digitalisierung und den Big Data-Trend stehen immer mehr Daten zur Verfügung. Daraus resultieren viele Potenziale – gerade für Unternehmen. Die Fähigkeit zur Bewältigung und Auswertung dieser Daten schlägt sich in der Rolle des Data Scientist nieder, welcher aktuell einer der gefragtesten Berufe ist. Allerdings ist die Integration von Daten in Unternehmensstrategie und -kultur eine große Herausforderung. So müssen komplexe Daten und Analyseergebnisse auch nicht datenaffinen Stakeholdern kommuniziert werden. Hier kommt dem Data Storytelling eine entscheidende Rolle zu, denn um mit Daten eine Veränderung hervorrufen zu können, müssen vorerst Verständnis und Motivation für den Sachverhalt zielgruppenspezifisch geschaffen werden. Allerdings handelt es sich bei Data Storytelling noch um ein Nischenthema. Diese Arbeit leitet mithilfe einer systematischen Literaturanalyse die Erfolgsfaktoren von Data Storytelling für eine effektive und effiziente Kommunikation von Daten her, um Data Scientists in Forschung und Praxis bei der Kommunikation der Daten und Ergebnisse zu unterstützen.
This study advances the research and methodological approach to measuring and understanding national-level destination competitiveness, sustainability and governance, by creating a model that could be of use for both developing and developed destinations. The study gives a detailed overview of the research field of measuring destination competitiveness and sustainability. It also identifies major predictors of destination competitiveness and sustainability and thereby presents destination researchers and practitioners with a useful list of priority areas, both from a global perspective and from the perspective of other similar destinations. Finally, the study identifies two major types of destination governance with implications for research, policy and practice across the destination life-cycle. The research deals with the analysis of the secondary data from the World Economic Forum Travel and Tourism Index (WEF T&T). Major types of destination governance and predictors of belonging to either one of the types, as well as inside cluster predictors have been extracted through a two-step cluster analysis. The results support the notion that a meaningful model of national-level destination governance needs to take into account different development levels of different destinations. The main limitation of the study is its typology creation approach, as it inevitably leads to simplifications.
Die Bundesrepublik Deutschland erlebt in jüngster Vergangenheit verstärkt Dieselfahrverbote in Großstädten. Gleichzeitig erfahren Großstädte als Lebensmittelpunkt eine steigende Beliebtheit. Für Verkehrsunternehmen gilt es, der Bevölkerung nachhaltige Mobilitätslösungen zu bieten, die ein Höchstmaß an Flexibilität ermöglichen. Moderne Mobility-as-a-Service-Konzepte und Innovationen in der Mobilität stellen den klassischen, planorientierten, öffentlichen Personennahverkehr und damit auch die Existenz von Bushaltestellen infrage. Mittels qualitativer Experten-Interviews lässt sich feststellen, dass sich die Bushaltestelle in den Innenstädten vor dem Hintergrund zunehmender digitaler Vernetzung von Mobilitätsanbietern und daraus resultierender modernen Mobility-as-a-service-Konzepte verändern wird. Die Ergebnisse deuten darauf hin, dass die Bushaltestelle in den Innenstädten auch in Zukunft bestehen bleibt und um „on demand“-Verkehre ergänzt wird. Ein radikaler Wandel, wie eine flächendeckende Einführung von autonom fahrenden Bussen, könnte langfristig eine Runderneuerung der Haltestelle zur Folge haben.
Surface-enhanced Raman spectroscopy (SERS) with subsequent chemometric evaluation was performed for the rapid and non-destructive differentiation of seven important meat-associated microorganisms, namely Brochothrix thermosphacta DSM 20171, Pseudomonas fluorescens DSM 4358, Salmonella enterica subsp. enterica sv. Enteritidis DSM 14221, Listeria monocytogenes DSM 19094, Micrococcus luteus DSM 20030, Escherichia coli HB101 and Bacillus thuringiensis sv. israelensis DSM 5724. A simple method for collecting spectra from commercial paper-based SERS substrates without any laborious pre-treatments was used. In order to prepare the spectroscopic data for classification at genera level with a subsequent chemometric evaluation consisting of principal component analysis and discriminant analysis, a pre-processing method with spike correction and sum normalisation was performed. Because of the spike correction rather than exclusion, and therefore the use of a balanced data set, the multivariate analysis of the data is significantly resilient and meaningful. The analysis showed that the differentiation of meat-associated microorganisms and thereby the detection of important meat-related pathogenic bacteria was successful on genera level and a cross-validation as well as a classification of ungrouped data showed promising results, with 99.5 % and 97.5 %, respectively.
Die Internationalisierung von Hochschulen muss mit passenden Angeboten für internationale Studierende einhergehen. Ein systemisches und kultursensitives Peer-Coaching kann internationale Studierende unterstützen, sich zu orientieren, zu integrieren und berufliche Ziele zu verwirklichen. Gleichzeitig entwickeln die zu Peer-Coaches ausgebildeten Studierenden Sensibilität für Diversität. Insgesamt wird ein kultursensitives Miteinander an der Hochschule gefördert.
Do socio-economic factors impede the engagement in online banking transactions? Evidence from Ghana
(2020)
Researchers have long pondered on the online banking transaction adoption. Some of these studies focus primarily on the motivating factors that affect customers’ intention to adopt/accept these services (technologies). However, research into the constraining factors, in particular socio-economic factors, barely exist in the literature, especially in the context of sub-Saharan Africa. Against this background, the paper seeks to fill in this gap by: (1) assessing the socio-economic factors impeding the engagement of e-banking transactions among retail bank customers in Ghana, and (2) examining the moderating effect of ‘customer experience of Internet’ on the identified factors that inhibit the engagement in online banking in Ghana. The paper used a quantitative research approach to obtain data from two leading Ghanaian banks. Out of the 450 questionnaires distributed, 393 were valid for analysis. Data were analyzed with the aid of PLS-SEM (partial least squares and structural equation modeling). Findings revealed that perceived knowledge gap and the price of digital devices were directly important to the intention to disembark on e-banking transactions among Ghanaian bank customers. Whilst customer experience (frequent use of the Internet), as a moderator variable, has a significant effect on the interaction between perceived knowledge gap and the intent to disembark on e-banking transactions; and finance charges and the intent to disembark on e-banking transactions. Study implications and directions for future research are discussed in the paper.
The temperature of photovoltaic modules is modelled as a dynamic function of ambient temperature, shortwave and longwave irradiance and wind speed, in order to allow for a more accurate characterisation of their efficiency. A simple dynamic thermal model is developed by extending an existing parametric steady-state model using an exponential smoothing kernel to include the effect of the heat capacity of the system. The four parameters of the model are fitted to measured data from three photovoltaic systems in the Allgäu region in Germany using non-linear optimisation. The dynamic model reduces the root-mean-square error between measured and modelled module temperature to 1.58 K on average, compared to 3.03 K for the steady-state model, whereas the maximum instantaneous error is reduced from 20.02 to 6.58 K.
Eco-InfoVis at Work
(2020)
Extremophiles are optimal models in experimentally addressing questions about the effects of cosmic radiation on biological systems. The resistance to high charge energy (HZE) particles, and helium (He) ions and iron (Fe) ions (LET at 2.2 and 200 keV/µm, respectively, until 1000 Gy), of spores from two thermophiles, Bacillushorneckiae SBP3 and Bacilluslicheniformis T14, and two psychrotolerants, Bacillus sp. A34 and A43, was investigated. Spores survived He irradiation better, whereas they were more sensitive to Fe irradiation (until 500 Gy), with spores from thermophiles being more resistant to irradiations than psychrotolerants. The survived spores showed different germination kinetics, depending on the type/dose of irradiation and the germinant used. After exposure to He 1000 Gy, D-glucose increased the lag time of thermophilic spores and induced germination of psychrotolerants, whereas L-alanine and L-valine increased the germination efficiency, except alanine for A43. FTIR spectra showed important modifications to the structural components of spores after Fe irradiation at 250 Gy, which could explain the block in spore germination, whereas minor changes were observed after He radiation that could be related to the increased permeability of the inner membranes and alterations of receptor complex structures. Our results give new insights on HZE resistance of extremophiles that are useful in different contexts, including astrobiology.
Purpose To investigate how completing vocational re-training influenced income and employment days of working-age people with disabilities in the first 8 years after program admission. The investigation also included the influence of vocational re-training on the likelihood of receiving an earnings incapacity pension and on social security benefit receipt. Methods This retrospective cohort study with 8 years follow up was based on data from 2399 individuals who had completed either a 1-year vocational re-training program (n = 278), or a 2-year vocational re-training program (n = 1754) or who were admitted into re-training but never completed the program (n = 367). A propensity score-based method was used to account for observed differences and establish comparability between program graduates and program dropouts. Changes in outcomes were examined using the inverse probability-weighted regression adjustment method. Results After controlling for other factors, over the 8 years after program admission, graduates of 1-year re-training, on average, were employed for an additional 405 days, 95% CI [249 days, 561 days], and had earned €24,260 more than without completed re-training, 95% CI [€12,805, €35,715]. Two-year program completers, on average, were employed for 441 additional days, 95% CI [349 days, 534 days], and had earned €35,972 more than without completed re-training, 95% CI [€27,743, €44,202]. The programs also significantly reduced the number of days on social-security and unemployment benefits and lowered the likelihood of an earnings incapacity pension. Conclusion Policies to promote the labor market re-integration of persons with disabilities should consider that vocational re-training may be an effective tool for sustainably improving work participation outcomes.
Background: While work-related rumination increases the risk of acute stressors developing into chronic load reactions and adverse health, mental detachment has been suggested as a way to interrupt this chain. Despite the importance of mentally detaching from work during leisure time, workers seem to struggle to disengage and, instead, experience the constant mental representation of work-related stressors, regardless of their absence. Those who struggle with work-related rumination could benefit from an easy-access intervention that fosters mental detachment by promoting recreational activities. Especially during vacations, workers appear to naturally engage in sufficient recovery activities; however, this beneficial behaviour is not sustained. The smartphone app-based intervention “Holidaily” promotes recovery behaviour and, thus, mental detachment from work with the intension of extending the beneficial effects of workers’ vacations into their daily working life.
Methods: This randomised-controlled trial (RCT) evaluates the efficacy of “Holidaily”. The Holidaily app is a German stand-alone program for mobile devices with either Android/iOS operating systems. The sample includes workers, who are awaiting to go on vacation and are randomly assigned to either the intervention (IG) or a waitlist-control group (CG). The IG receives two weeks pre-vacation access to Holidaily, while the CG receives access two weeks post-vacation. On a daily basis participants in the IG are provided with three options promoting recreational activities and beneficial recovery experiences. Online questionnaires are distributed to all participants at several timepoints. The primary outcome measure assesses participants’ work-related rumination (Irritation Scale). A significant difference two weeks post-vacation is expected, favouring the IG. Secondary outcomes include symptoms of depression, insomnia severity, emotional exhaustion, thinking about work, recovery experiences, vacation specifics, work and personal characteristics. To help explain the intervention’s effect, explorative analyses will investigate the mediation properties of the frequency of engaging in recreational activities and the moderation properties of Holidaily users’ experiences.
Discussion: If successful, workers will maintain their recovery behaviour beyond their vacation into daily working life. Findings could, therefore, provide evidence for low-intensity interventions that could be very valuable from a public-health perspective. App-based interventions have greater reach; hence, more workers might access preventative tools to protect themselves from developing adverse health effects linked to work-related rumination. Further studies will still be needed to investigate whether the vacation phenomenon of “lots of fun quickly gone” can be defied and long-term benefits attained.
Die Motive für die Einführung von Public Cloud Services liegen oft im Bereich der Kosteneinsparung und Qualitätsverbesserung. Vielfach werden bei der erstmaligen Einführung vermeidbare Fehler gemacht, die im Nachhinein den Erfolg des Vorhabens schmälern. Der Beitrag beschreibt ein aus Sicht der Beratungspraxis bewährtes Vorgehensmodell für die Einführung und Nutzung von Public Cloud Services unter besonderer Berücksichtigung von Microsoft Cloud Services.