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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.
Verstärkt der Handel mit Agrar-Derivaten die Preisschwankungen von Agrar-Produkten? In der politischen Diskussion wird diese These oft als Grund für eine strenge Reglementierung des Handels mit Agrar-Derivaten angeführt. Hier diskutiere ich die Voraussetzungen, auf denen verschiedene Argumente für diese These beruhen. Eine zentrale Rolle dabei spielen die Begriffe von Gleichgewicht und Selbstreferenz. Diese Begriffe spielen in der Logik und der Physik eine wichtige Rolle, haben aber in der Ökonomie erstaunliche Konsequenzen.