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Biomedical subjects

S Egli

Publications and source records attributed to S Egli.

8 recordsLinked to original sources
PubMed2002

Early onset chromosome 14-linked distal myopathy (Laing).

A dominantly inherited form of distal myopathy with onset in early childhood was first reported in a 4-generation Australian family in 1995. In the present report we provide further information on the clinical phenotype and natural history of this myopathy, and on the electromyogram and magnetic resonance imaging findings in affected individuals. The pattern of muscle involvement was similar to that in the 'tibial' forms of distal myopathy such as the Finnish (Udd) and Markesbery-Griggs types, with additional involvement of the finger extensors and of some more proximal limb and neck muscles. However, the age of onset was earlier than in these other myopathies and rimmed vacuoles were not found in biopsies from two affected individuals. Evidence of possible anticipation was found in one branch of the family. The gene locus for this myopathy had been mapped to 14q11.2-q13. The linkage region has been refined to a 24 cM region between D14S283 and D14S49 and mutations have been excluded in the PABP2 gene for oculopharyngeal muscular dystrophy which lies within this region.

Adolescent↗
PubMed2002

Effect of heavy metal contaminated shooting range soils on mycorrhizal colonization of roots and metal uptake by leek.

We grew leek (Allium porrum) in soils of two shooting ranges heavily contaminated with heavy metals in the towns of Zuchwil and Oberuzwil in Switzerland as a bioassay to test the activity of arbuscular mycorrhizal (AM) fungi in these soils. Soil samples were taken from (1) front of the shooting house (HOUSE), (2) the area between house and target (FIELD) and (3) the berm (BACKSTOP). Samples of Ribwort plantain (Plantago lanceolata) growing naturally within the shooting ranges were also collected and the colonization of its roots by mycorrhizal fungi was measured. The number of AM spores in the soils was significantly reduced concomitant with the increase in the degree of soil contamination with metals. In Zuchwil, mycorrhizal fungi equally colonized roots of Ribwort plantain sampled from BACKSTOP and HOUSE. In Oberuzwil, however, plants from BACKSTOP had lower colonization when compared with those sampled from HOUSE. Colonization of leek was strongly reduced in the BACKSTOP soil of Zuchwil and slightly reduced in the BACKSTOP soil of Oberuzwil when compared with plants grown in respective HOUSE soil. Concentrations of Cd, Cr, Cu, Ni, Pb and Zn in the leaves of leek grown in the BACKSTOP soil was within the range considered toxic for human consumption. This points to the high degree of bioavailability of these metal in these soils. Significant decrease in the number of mycorrhizal spores in the BACKSTOP soils in Zuchwil and the low colonization of leek roots grown in these soils point to possible changes in the species diversity of mycorrhizal fungi in these soils.

Allium↗
PubMed2000

Application of Prionics Western blotting procedure to screen for BSE in cattle regularly slaughtered at Swiss abattoirs.

Disease-specific PrP (PrP(Sc)) is at least part of the infectious particle (prion) causing bovine spongiform encephalopathy (BSE) or scrapie in sheep. Digestion with protease allows a distinction between normal PrP (PrP(C)) and PrP(Sc) i.e. PrP(C) is completely digested while PrP(Sc) is cleaved at the N-terminus leading to a fragment of reduced molecular weight (PrP 27-30). Detection of this fragment by Western blotting has been described more than a decade ago for rodent PrP. We have now optimized the technique in order to allow rapid analysis of hundreds of samples per day. Here we report the application of this technique to the analysis of 3000 regularly slaughtered cattle from Swiss abattoirs. For comparison all the animals were subsequently examined by classical methods (i.e. histology and immunohistochemistry). All but one animal were negative for BSE by all methods. The Western blot positive animal was confirmed to be a BSE case and the carcass was removed from the food chain. We conclude that it is feasible to examine slaughtered cattle on a routine basis without causing delays to the meat processing industry.

Abattoirs↗
PubMed1999

Validation of a western immunoblotting procedure for bovine PrP(Sc) detection and its use as a rapid surveillance method for the diagnosis of bovine spongiform encephalopathy (BSE).

In this report we document the results of several independent studies testing the sensitivity, specificity and reliability of the Prionics Western blotting (PWB) procedure to detect bovine and ovine disease-specific, protease-resistant prion protein (PrP(Sc)). Validation of the technique was obtained by blind analysis of samples from cattle affected with bovine spongiform encephalopathy (BSE), clinically normal animals or cattle with neurological diseases unrelated to BSE. Overall, very high sensitivity, specificity and reliability was observed. It became clear that sampling of the correct brain region and the method used for protein extraction are important factors for correct diagnosis. Furthermore, we tested the usefulness of the PWB technique as an instrument for surveillance purposes. We analyzed animals from a culling scheme as well as older animals from abattoirs to determine the number of subclinical BSE cases detectable by histopathological examination, immunohistochemistry for PrP(Sc) and PWB. In both studies, BSE-affected animals with no overt clinical symptoms were detected. These results demonstrate the usefulness of the PWB procedure in surveillance systems serving as a rapid diagnostic tool to identify animals subclinically infected with BSE.

Animals↗
PubMed1998

Soil contamination by crude oil: impact on the mycorrhizosphere and on the revegetation potential of forest trees.

In vitro and greenhouse biotests were carried out to study the effects of various concentrations of crude oil on the mycorrhizosphere and the ability of ectomycorrhizal fungi to colonise Norway spruce and poplar seedlings grown on contaminated soil. Ectomycorrhizal fungi grown in pure cultures showed a variety of reactions to crude oil, ranging from growth stimulation to total inhibition of growth, depending on the species of fungi. Germination of poplar and spruce seeds was not significantly affected. The growth of spruce seedlings was not affected by crude oil, whereas that of poplar seedlings was significantly reduced at high concentrations. None of the concentrations had any effect on the degree of ectomycorrhizal and endomycorrhizal colonisation of poplar. With spruce, however, the ectomycorrhizal fungi showed species-specific reactions to increasing concentrations, in accordance with the results of the pure culture test. The length of time between soil contamination and seeding affects both seedling growth and the mycorrhizal infection potential of the soil. The results confirm the importance of mycorrhizal fungi in the bioremediation of soils contaminated by crude oil.

Journal Article↗