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Adult muscle carnitine palmitoyltransferase (CPT) II deficiency is a rare autosomal recessive disorder of long-chain fatty acid metabolism. It is typically associated with recurrent episodes of exercise-induced rhabdomyolysis and myoglobinuria, in most cases caused by a c.338C > T mutation in the CPT2 gene. Here we present the pedigree of one of the largest family studies of CPT II deficiency caused by the c.338C > T mutation, documented so far. The pedigree comprises 24 blood relatives
of the index patient, a 32 year old female with genetically proven CPT II deficiency. In total, the mutation was detected in 20 family members, among them five homozygotes and 15 heterozygotes. Among all homozygotes, first symptoms of CPT II deficiency occurred during childhood. Additionally, two already deceased relatives of the index patient were carriers of at least one copy of the genetic variant, revealing a remarkably high prevalence of the c.338C > T mutation within the tested family. Beside the index patient, only one individual had been diagnosed with CPT II deficiency prior to this study and three cases of CPT II deficiency were newly detected by this family study, pointing
to a general underdiagnosis of the disease. Therefore, this study emphasizes the need to raise awareness of CPT II deficiency for correct diagnosis and accurate management of the disease.
Through mandatory ESG (environmental, social, governance) reporting large companies must disclose their ESG activities showing how sustainability risks are incorporated in their decision-making and production processes. This disclosure obligation, however, does not apply to small and medium-sized enterprises (SME), creating a gap in the ESG dataset. Banks are therefore required to collect sustainability data of their SME customers independently to ensure complete ESG integration in the risk analysis process for loans. In this paper, we examine ESG risk analysis through a smart science approach laying the focus on possible value outcomes of sustainable smart services for banks as well as for their (SME) customers. The paper describes ESG factors, how services can be derived from them, targeted metrics of ESG and an ESG Service Creation Framework (business ecosystem building, process model, and value creation). The description of an exemplary use case highlighting the necessary ecosystem for service creation as well as the created value concludes the paper.
Modeling the dynamic of breath methane concentration profiles during exercise on an ergometer
(2015)
Smart services disrupt business models and have the potential to stimulate the circular economy transition of regions, enabling an environmentally friendly atmosphere for sustainable and innovation-driven growth of regions. Although smart services are powerful means for deploying circular economy goals in industrial practices, there is little systematic guidance on how the adoption of smart services could improve resource efficiency and stimulate smart regional innovation-driven growth, enabled through circular design. Implemented in the scope of Vorarlberg’s smart specialization strategy, this paper contributes to the literature on the circular economy and regional innovation-driven growth by assessing critical factors of the value creation and value capture implemented within the scope of the quadruple helix system. By identifying the main challenges and opportunities of collaborative value creation and value capture in setting-up smart circular economy strategies and by assessing the role of innovation actors within the quadruple helix innovation system, the study provides recommendations and set of guidelines for managers and public authorities in managing circular transition. Finally, based on the analysis of the role of actors in creating shared value and scaling-up smart circular economy practices in the quadruple helix innovation systems, the paper investigates the role of banks as enablers of circular economy innovation-driven regional growth and smart value creation.
Complementarities and synergies of quadruple helix innovation design in smart city development
(2020)
Increased urbanization trends are stimulating regional needs to support transitions from urban environments to smart cities, using its holistic perspective as a source to innovation. Strong relations between smart cities, urban and regional development, are getting increased attention both at policy and implementation level, providing fertile ground for execution of the new European policy frameworks that supports quadruple helix approaches to innovation. Smart specialization strategies (RIS3) encompass such initiatives, placing ICT and collaboration between academia, industry, government, and citizen at the center of urban innovation. However, there is still lack of research on effects of such approaches to innovation, involving both quadruple helix clusters and ICT in utilizing innovation potentials for developing smart cities. This study aims to increase the understanding on how quadruple helix urban innovation strengthens competitiveness of regions by improving its local smart areas – RIS3. We identified smart specialization patterns and applied comparative benchmark between nine smallmedium sized urban regions in Central Europe. Building on these results, the study provides an overview of the effects of RIS3 strategies implemented through quadruple helix innovation clusters on competitiveness of regions and Smart City development.
A covariance matrix self-adaptation evolution strategy for optimization under linear constraints
(2018)