Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.

We describe a new type of cardiomyopathy caused by a mutation in the glycogenin-1 gene (GYG1). Three unrelated male patients aged 34 to 52 years with cardiomyopathy and abnormal glycogen storage on endomyocardial biopsy were homozygous for the missense mutation p.Asp102His in GYG1. The mutated glycogenin-1 protein was expressed in cardiac tissue but had lost its ability to autoglucosylate as demonstrated by an in vitro assay and western blot analysis. It was therefore unable to form the primer for normal glycogen synthesis. Two of the patients showed similar patterns of heart dilatation, reduced ejection fraction and extensive late gadolinium enhancement on cardiac magnetic resonance imaging. These two patients were severely affected, necessitating cardiac transplantation. The cardiomyocyte storage material was characterized by large inclusions of periodic acid and Schiff positive material that was partly resistant to alpha-amylase treatment consistent with polyglucosan. The storage material had, unlike normal glycogen, a partly fibrillar structure by electron microscopy. None of the patients showed signs or symptoms of muscle weakness but a skeletal muscle biopsy in one case revealed muscle fibres with abnormal glycogen storage. Glycogenin-1 deficiency is known as a rare cause of skeletal muscle glycogen storage disease, usually without cardiomyopathy. We demonstrate that it may also be the cause of severe cardiomyopathy and cardiac failure without skeletal muscle weakness. GYG1 should be included in cardiomyopathy gene panels

Frauen haben viel zu bieten: effizienter Personaleinsatz durch Frauenfoerderung im Mittelstand

SIGLEAvailable from Bibliothek des Instituts fuer Weltwirtschaft, ZBW, Duesternbrook Weg 120, D-24105 Kiel A 203918 / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekDEGerman

Mutational Analysis of the Lassa Virus Promoter

The promoter sequences directing viral gene expression and genome replication of arenaviruses reside within the 3′ and 5′ termini of each RNA segment. The terminal 19 nucleotides at both ends are highly conserved among all arenavirus species and are almost completely complementary to each other. This study aimed at characterizing the Lassa virus promoter in detail. The relevance of each position in the promoter was studied by site-directed mutagenesis using the Lassa virus minireplicon system. The data indicate that the Lassa virus promoter functions as a duplex, regulates transcription and replication in a coordinated manner, and is composed of two functional elements, a sequence-specific region from residue 1 to 12 and a variable complementary region from residue 13 to 19. The first region appears to interact with the replication complex mainly via base-specific interactions, while in the second region solely base pairing between 3′ and 5′ promoter ends is important for promoter function

Zurueck in den Beruf Dokumentation der Fachtagung

SIGLEIAB-96-232-31 AU 516 / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekDEGerman

Leitfaden zur betrieblichen Frauenfoerderung

IAB-96-231-23 AR 346 / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekSIGLEDEGerman

Quantification of Biomass Production Potentials from Trees Outside Forests—A Case Study from Central Germany

Woody biomass of trees outside forests (TOF) is gaining increasing interest in many countries as it is a renewable energy source that has not been managed for bioenergy production. Our case study describes two independent approaches to assess regional area of TOF as a means for the biomass production potential of TOF within a study region in Germany, the Göttingen district (area: 1118 km²): (1) a statistical sampling with field inventory data, and (2) an area-wide GIS-mapping approach based on open access aerial imagery. For our particular study, the differences between the mapping based approach and the sample based approach were minor (sampling: 24.37 ha and 16,670 t of dry wood per year with a relative standard error 11.6% vs. area-wide mapping: 24.35 ha and 16,055 t, standard error not available). Due to a minor difference of only 3.7% between the two approaches we conclude that area-wide mapping serves as a sound basis for a quantification of bioenergy potentials from TOF. It also shown that only about 62% of all TOF objects (74% of the total annual biomass production) would be directly accessible via the existing road infrastructure (without heavy machinery). In terms of available end-use energy, the regional biomass potential translates to an annual amount of 233 TJ which in turn reflects only about 0.9% of annual end-use-energy demand in the study area. This marginal contribution to the region’s energy supply is due to the fact that TOF covers only around 24 km² (~2%) in our study area.Keywords: Bioenergy, GIS, Open-access imagery, Sampling, Web-mapping service

Frauen haben viel zu bieten effizienter Personaleinsatz durch Frauenfoerderung im Mittelstand

IAB-96-231-23 AY 393 / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekSIGLEDEGerman