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More than 25 years ago, it was a big surprise for physiologists that nitric oxide (NO) was identified as the endothelium derived relaxing factor which is responsible for endothelium-induced smooth muscle relaxation (Ignarro et al., 1987). Until then, small gaseous molecules were simply regarded as byproducts of cellular metabolism which were unlikely to be of any physiological relevance. The discovery that NO was synthesized by specific enzymes (NO-synthases), upon stimulation by specific, physiologically relevant stimuli (e.g., acetylcholine stimulation of endothelial cells), as well as the fact that it acted on specific cellular targets (e.g., soluble guanylate cyclase), set the course for numerous studies which investigated the physiological roles of gaseous signaling molecules—in other words, gasotransmitters (Wang, 2002).
A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency
(2013)
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inherited metabolic disorder of ketone metabolism, characterized by ketoacidotic episodes and often permanent ketosis. To date there are ~20 disease-associated alleles on the OXCT1 gene that encodes the mitochondrial enzyme SCOT. SCOT catalyzes the first, rate-limiting step of ketone body utilization in peripheral tissues, by transferring a CoA moiety from succinyl-CoA to form acetoacetyl-CoA, for entry into the tricarboxylic acid cycle for energy production. We have determined the crystal structure of human SCOT, providing a molecular understanding of the reported mutations based on their potential structural effects. An interactive version of this manuscript (which may contain additional mutations appended after acceptance of this manuscript) may be found on the web address:
http://www.thesgc.org/jimd/SCOT
BACKGROUND
Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better define the genetic basis of hyperlysinemia.
METHODS
We collected the clinical, biochemical and molecular data in a cohort of 8 hyperlysinemia patients with distinct neurological features.
RESULTS
We found novel causal mutations in AASS in all affected individuals, including 4 missense mutations, 2 deletions and 1 duplication. In two patients originating from one family, the hyperlysinemia was caused by a contiguous gene deletion syndrome affecting AASS and PTPRZ1.
CONCLUSIONS
Hyperlysinemia is caused by mutations in AASS. As hyperlysinemia is generally considered a benign metabolic variant, the more severe neurological disease course in two patients with a contiguous deletion syndrome may be explained by the additional loss of PTPRZ1. Our findings illustrate the importance of detailed biochemical and genetic studies in any hyperlysinemia patient.
Ornithine transcarbamylase (OTC) deficiency is the most common urea cycle defect. The clinical presentation in female manifesting carriers varies both in onset and severity. We report on a female with insulin dependent diabetes mellitus and recurrent episodes of hyperammonemia. Since OTC activity measured in a liver biopsy sample was within normal limits, OTC deficiency was initially excluded from the differential diagnoses of hyperammonemia. Due to moderately elevated homocitrulline excretion, hyperornithinemia-hyperammonemia-homocitrullinuria-syndrome was suggested, but further assays in fibroblasts showed normal ornithine utilization. Later, when mutation analysis of the OTC gene became available, a known pathogenic missense mutation (c.533C>T) in exon 5 leading to an exchange of threonine-178 by methionine (p.Thr178Met) was detected. Skewed X-inactivation was demonstrated in leukocyte DNA. In the further clinical course the girl developed marked obesity. By initiating physical activities twice a week, therapeutic control of both diabetes and OTC deficiency improved, but obesity persisted. In conclusion, our case confirms that normal hepatic OTC enzyme activity measured in a single liver biopsy sample does not exclude a clinical relevant mosaic of OTC deficiency because of skewed X-inactivation. Mutation analysis of the OTC gene in whole blood may be a simple way to establish the diagnosis of OTC deficiency. The joint occurrence of OTC deficiency and diabetes in a patient has not been reported before.
BACKGROUND
Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited.
STUDY DESIGN/METHODS
Clinical and outcome data of 55 patients with propionic acidemia from 16 European metabolic centers were evaluated retrospectively. 35 patients were diagnosed by selective metabolic screening while 20 patients were identified by newborn screening. Endocrine parameters and bone age were evaluated. In addition, IQ testing was performed and the patients' and their families' quality of life was assessed.
RESULTS
The vast majority of patients (>85%) presented with metabolic decompensation in the neonatal period. Asymptomatic individuals were the exception. About three quarters of the study population was mentally retarded, median IQ was 55. Apart from neurologic symptoms, complications comprised hematologic abnormalities, cardiac diseases, feeding problems and impaired growth. Most patients considered their quality of life high. However, according to the parents' point of view psychic problems were four times more common in propionic acidemia patients than in healthy controls.
CONCLUSION
Our data show that the outcome of propionic acidemia is still unfavourable, in spite of improved clinical management. Many patients develop long-term complications affecting different organ systems. Impairment of neurocognitive development is of special concern. Nevertheless, self-assessment of quality of life of the patients and their parents yielded rather positive results.
BACKGROUND
Metabolic control and dietary management of patients with phenylketonuria (PKU) are based on single blood samples obtained at variable intervals. Sampling conditions are often not well-specified and intermittent variation of phenylalanine concentrations between two measurements remains unknown. We determined phenylalanine and tyrosine concentrations in blood over 24 hours. Additionally, the impact of food intake and physical exercise on phenylalanine and tyrosine concentrations was examined. Subcutaneous microdialysis was evaluated as a tool for monitoring phenylalanine and tyrosine concentrations in PKU patients.
METHODS
Phenylalanine and tyrosine concentrations of eight adult patients with PKU were determined at 60 minute intervals in serum, dried blood and subcutaneous microdialysate and additionally every 30 minutes postprandially in subcutaneous microdialysate. During the study period of 24 hours individually tailored meals with defined phenylalanine and tyrosine contents were served at fixed times and 20 min bicycle-ergometry was performed.
RESULTS
Serum phenylalanine concentrations showed only minor variations while tyrosine concentrations varied significantly more over the 24-hour period. Food intake within the patients' individual diet had no consistent effect on the mean phenylalanine concentration but the tyrosine concentration increased up to 300% individually. Mean phenylalanine concentration remained stable after short-term bicycle-exercise whereas mean tyrosine concentration declined significantly. Phenylalanine and tyrosine concentrations in dried blood were significantly lower than serum concentrations. No close correlation has been found between serum and microdialysis fluid for phenylalanine and tyrosine concentrations.
CONCLUSIONS
Slight diurnal variation of phenylalanine concentrations in serum implicates that a single blood sample does reliably reflect the metabolic control in this group of adult patients. Phenylalanine concentrations determined by subcutaneous microdialysis do not correlate with the patients' phenylalanine concentrations in serum/blood.
Reactive oxygen species and the bacteriostatic and bactericidal effects of isoconazole nitrate
(2013)
Vom deutschen Hochschulbetrieb nur teilweise bemerkt, ist das Übereinkommen über die Anerkennung von Qualifikationen im Hochschulbereich in der europäischen Region von 1997 (sog. Lissabon-Konvention) in Deutschland 2007 in Kraft getreten. Die Konvention – entstanden auf Initiative des Europarats und der UNESCO – ist ein völkerrechtlicher Vertrag, der mittlerweile von über 50 Staaten ratifiziert wurde. Er regelt die Anerkennung von im Ausland erworbenen Hochschulqualifikationen und absolvierten Studienzeiten.
Within an elementary decision of March 28th, 2006 the German Federal Constitutional Court implemented the following: “According to the status quo of research it is certain, that gambling and bets can result in morbid addictive behaviour. ... However different gambling products exhibit different addictive potentials.” Up to now a specific identification of the addictive potential of a concrete gambling product was nearly impossible. This being said, the Wissenschaftliches Forum Glücksspiel (Gambling Scientific Forum) developed a globally applicable assessment tool to measure and evaluate the risk potential of gambling products.
AsTERiG is developed by the Gambling Scientific Forum in the years 2006-2010. At the completion of this final version as well as in the composition of this survey the following scientists were involved: Prof. Dr. Reiner Clement, Bonn-Rhein-Sieg University; Prof. Dr. Jörg Ennuschat, University of Konstanz; Prof. Jörg Häfeli, Lucerne University of Applied Sciences and Arts; Prof. Dr. Gerhard Meyer, University of Bremen; Chantal Mörsen, Charité Berlin; Prof. Dr. Dr. Franz W. Peren, Bonn-Rhein-Sieg University; Prof. Dr. Wiltrud Terlau, Bonn-Rhein-Sieg University.
This paper presents recent research on an active multispectral scanning sensor capable of classifying an object's surface material in order to distinguish between different kinds of materials and human skin. The sensor itself has already been presented in previous work and can be used in conjunction with safeguarding equipment at manually-fed machines or robot workplaces, for example. This work shows how an extended sensor system with advanced material classifiers can be used to provide additional value by distinguishing different materials of work pieces in order to suggest different tools or parameters for the machine (e.g. the use of a different saw blade or rotation speed at table saws). Additionally, a first implementation and evaluation of an active multispectral camera system addressing new safety applications is described. Both approaches intend to increase the productivity and the user's acceptance of the sensor technology.
Vom Signal zur Information
(2013)
"Die richtige Information zur richtigen Zeit am richtigen Ort", so lautet das Diktum der modernen Informationsgesellschaften. Methoden zur Beschaffung aktueller Informationen lernen die Studierenden des Fachbereichs Sozialversicherung gleich in mehreren Modulen während ihres Studiums in Hennef. Auf die Nutzung von BG-internen Informationssystemen wird dabei ebenso eingegangen wie auf die Inanspruchnahme sogenannter Informationsprovider wie beispielsweise dem Deutschen Institut für Medizinische Dokumentation und Information (DIMDI) oder den National Institutes of Health (NIH).
Der „vertrackte“ § 14 SGB IX
(2013)