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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.
Ursprünglich wurde für das K-Projekt „LiTech“ eine mobile und intuitive Robotersteuerung – mit Touchbedienung und Augmented Reality – programmiert. Ziel war es, einen Industrieroboter spontan steuern zu können, mit besonderem Augenmerk auf Laienfreundlichkeit. Das System besteht aus einem Roboter und einem PC der als Bildschirm eine mit kapazitivem Touch ausgestattete und von einem Projektor bespielte Glasscheibe hat. Daten werden als String über eine serielle Schnittstelle übermittelt. Zur Erforschung der Nutzerfreundlichkeit werden Bälle auf einer Ebene hin- und herbewegt. Zur Cloud-Datenauswertung und Erstellung der Visualisierung wurden mittlerweile weitere Forschungszentren der FH Vorarlberg eingebunden. Im laufenden Wintersemester arbeitet ein Praktikant aus Südamerika an der Erweiterung auf den kompletten 3D-Raum mit möglicher Implementierung einer Gestensteuerung. Ziel des Beitrags ist es, den Versuchsaufbau und die Steuerung des Roboters zu beschreiben sowie geplante Weiterentwicklungen aufzuzeigen.
Varying mindsets in Design Thinking. Why they change during the process and how to nudge them
(2019)