Bielefeld University

About: Bielefeld University is a education organization based out in Bielefeld, Nordrhein-Westfalen, Germany. It is known for research contribution in the topics: Population & Quantum chromodynamics. The organization has 10123 authors who have published 26576 publications receiving 728250 citations. The organization is also known as: University of Bielefeld & UNIVERSITAET BIELEFELD.

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

Abstract: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease, frequently accompanied by sudden cardiac death and terminal heart failure. Genotyping of ARVC patients might be used for palliative treatment of the affected family. We genotyped a cohort of 22 ARVC patients referred to molecular genetic screening in our heart center for mutations in the desmosomal candidate genes JUP, DSG2, DSC2, DSP and PKP2 known to be associated with ARVC. In 43% of the cohort, we found disease-associated sequence variants. In addition, we screened for desmin mutations and found a novel desmin-mutation p.N116S in a patient with ARVC and terminal heart failure, which is located in segment 1A of the desmin rod domain. The mutation leads to the aggresome formation in cardiac and skeletal muscle without signs of an overt clinical myopathy. Cardiac aggresomes appear to be prominent, especially in the right ventricle of the heart. Viscosimetry and atomic force microscopy of the desmin wild-type and N116S mutant isolated from recombinant Escherichia coli revealed severe impairment of the filament formation, which was supported by transfections in SW13 cells. Thus, the gene coding for desmin appears to be a novel ARVC gene, which should be included in molecular genetic screening of ARVC patients.

A blue-light photoreceptor mediates the feedback regulation of photosynthesis

Abstract: In plants and algae, light serves both as the energy source for photosynthesis and a biological signal that triggers cellular responses via specific sensory photoreceptors. Red light is perceived by bilin-containing phytochromes and blue light by the flavin-containing cryptochromes and/or phototropins (PHOTs), the latter containing two photosensory light, oxygen, or voltage (LOV) domains. Photoperception spans several orders of light intensity, ranging from far below the threshold for photosynthesis to values beyond the capacity of photosynthetic CO2 assimilation. Excess light may cause oxidative damage and cell death, processes prevented by enhanced thermal dissipation via high-energy quenching (qE), a key photoprotective response. Here we show the existence of a molecular link between photoreception, photosynthesis, and photoprotection in the green alga Chlamydomonas reinhardtii. We show that PHOT controls qE by inducing the expression of the qE effector protein LHCSR3 (light-harvesting complex stress-related protein 3) in high light intensities. This control requires blue-light perception by LOV domains on PHOT, LHCSR3 induction through PHOT kinase, and light dissipation in photosystem II via LHCSR3. Mutants deficient in the PHOT gene display severely reduced fitness under excessive light conditions, indicating that the sensing, utilization, and dissipation of light is a concerted process that plays a vital role in microalgal acclimation to environments of variable light intensities.

Ermittlung standardisierter Bewertungssätze aus gesellschaftlicher Perspektive für die gesundheitsökonomische Evaluation

Abstract: Ziel: Aufgrund der demografischen Alterung gewinnen gesundheitsokonomische Evaluationen von Gesundheitsleistungen fur Altere an Bedeutung. Deshalb wurde ein Fragebogen fur die Ermittlung des gesundheitsbezogenen Ressourcenkonsums entwickelt. Die monetare Bewertung der im Fragebogen erfassten Einheiten stellt einen wichtigen Schritt zur Ermittlung der Kosten dar. Ziel dieser Arbeit ist es, Bewertungssatze fur die im Fragebogen erhobenen Einheiten von Gesundheitsleitungen aus gesellschaftlicher Perspektive zu ermitteln. Methodik: Die Bewertungssatze werden anhand regelmasig erscheinender offentlicher Quellen auf pragmatische Weise berechnet. Eine einfache Aktualisierung wird dadurch gewahrleistet. Ergebnisse: Der Beitrag stellt fur den ambulant-arztlichen Sektor, Heil-, Hilfs- und Arzneimittel, Krankenhauser, informelle und formelle Pflegeleistungen und Rehabilitationen gesellschaftliche Bewertungssatze fur Deutschland vor. Schlussfolgerungen: Neben der Bereitstellung von Bewertungssatzen fur die Inhalte des genannten Fragebogens konnen die kalkulierten Bewertungssatze zugleich als Referenzfall bei gesundheitsokonomischen Evaluationen dienen und so deren Vergleichbarkeit erhohen.