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Biomedical subjects

W Gruber

Publications and source records attributed to W Gruber.

At least 19 recordsLinked to original sources
PubMed1992

Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease.

We analysed urine and tissue specimens from two nephrotic infantile sialic acid storage disease patients (nISSD) for free and bound sialic acids in comparison to non-nephrotic ISSD patients (ISSD), patients with minimal change nephrosis (nControl) and normal controls (Control). No differences in the excretion of urinary free sialic acid could be detected between ISSD and nISSD urines. Sialyloligosaccharide fractions were only slightly elevated and of apparently normal composition. Owing to glomerular dysfunction, measurable quantities of protein-bound sialic acids were present in nISSD and nControl. In nISSD tissues, free sialic acid was elevated 18-100-fold above control and 3-12-fold above Niemann-Pick A (NPA) samples. The storage of membrane-bound sialic acid was slightly increased compared to control tissues, but equal to those from NPA, thus reflecting an unspecific increase of membranes due to lysosomal storage. According to these results no major biochemical differences were detectable between ISSD and nISSD. The nephrotic syndrome in nISSD could not be related to a general deficit in the sialylation of glycoproteins. Nevertheless, a cell membrane-specific alteration in sialoglycoproteins of glomerular cells might still be possible.

Glycosaminoglycans↗
PubMed1992

[Otosclerosis--diagnosis and therapy].

Otosclerosis (synonym: otospongiosis) is a focal or diffuse spongifying disease of the bony labyrinth. So far pathogenesis is unknown, some recent investigations assume a paramyxovirus infection. But there are no doubts about hereditary and genetic factors, females are twice often affected as males with a maximum incidence between 20 and 40 years. If the disease invades the oval window niche it causes fixation of the stapes with conducting hearing loss. In some cases otospongiosis is associated with and presumably causes cochlear degeneration alone with sensoneurale hearing impairment of varying degree. The surgical technique is now well developed and the operative treatment enables in over 90% a closure of the air-bone gap by using stapes pistons. The medical therapy in cases of sensoneural hearing loss with sodium fluoride is still controversially discussed.

Adult↗
PubMed1990

Nephrosis in two siblings with infantile sialic acid storage disease.

The diagnosis of infantile sialic acid storage disease (ISSD) was established in two siblings on the basis of typical clinical signs and the biochemical findings of hyperexcretion and intracellular storage of free sialic acid. A severe, steroid resistant nephrosis occurred in both siblings. The activities of lysosomal enzymes, including sialidase, were normal. A combined detection method for sialic acids with Limax flavus agglutinin labelling and phosphotungstic acid staining showed severely alterated sialic acid components in epithelial kidney cells and indicate a causal relationship between the nephrosis and the underlying biochemical defect. Further observations of ISSD patients with renal involvement will prove if a separate nephropathic phenotype exists.

Carbohydrate Metabolism, Inborn Errors↗
PubMed1989

[Assessment of edema in pregnancy].

The clinical evaluation of oedemata during pregnancy is more or less subjective and not reproducible. There is no common factor to the relevance of its presence. The aim of this investigation was to check systematically the frequency and degree of generalised Oedemata and their clinical relevance. 184 pregnant women were examined for their finger circumference between the 16th and 36th week of gestation. According to the change in the circumference, three significantly different groups of oedemata were found. The group with strongly marked oedemata showed increased hypertensive complications and the highest rate of growth retarded children. This objective and simple method of measuring the finger circumference, is suggested for antenatal care.

Adult↗
PubMed1989

Isolation and immunological characterization of a 55-kilodalton surface protein from Salmonella typhimurium.

Surface proteins of different Salmonella R mutants were labeled selectively by treating live bacteria with cycloheptaamylose-dansylchloride. The labeled proteins were extracted from the cells with 6 M urea and analyzed by sodium dodecyl sulfate-polyacrylamide gel electrophoresis. From the urea extract a 55-kilodalton protein common to numerous Salmonella strains could be isolated by ion-exchange chromatography and gel filtration free of lipopolysaccharide. Immunization of rabbits with isolated protein led to the formation of specific antibodies. Such antiprotein antisera could be employed in Western blots for the specific identification of the 55-kilodalton protein in bacterial extracts containing mixtures of different Salmonella proteins. The importance of this antigen is emphasized by antisera against acetone-killed Salmonella bacteria, showing a preferential interaction with the 55-kilodalton protein in Western blots. Active immunization of mice with the 55-kilodalton protein afforded significant protection against experimental infection with S. typhimurium.

Animals↗
PubMed1979

EDTA effect on creatine kinase (CK) and on the SCE reagent.

The inclusion of EDTA in the creatine kinase reagent recommended by the Scandinavian Committee on Enzymes was shown to increase reagent stability from less than 24 h to 5 days. Part of this effect can be explained by the fact that EDTA delays the formation of inhibitory products formed when N-acetyl cysteine is oxidized. The addition of EDTA to the reagent also results in increased measured CK activity. This effect is more pronounced for CK-BB than for CK-MM. Calcium and ferric ions are shown to inhibit the enzyme and the chelation of these ions can partly explain the observed increase of CK acitivity.

Acetylcysteine↗
PubMed1979

Influence of indicating enzyme reaction on apparent creatine kinase activity creatine kinase in serum, VII.

Comparison of the indicative systems yeast glucose-6-phosphate dehydrogenase/NADP+, leuconostoc glucose-6-phosphate dehydrogenase/NADP+ and leuconostoc glucose-6-phosphate dehydrogenase/NAD+ showed excellent correlation and no differences in apparent creatine kinase activity with the two methods using NADP+. By using NAD+ with the leuconostoc enzyme enzyme relative recovery of apparent creatine kinase activity is lower due to interference of other serum constituents. The mean value of the relative differences versus methods using NADP+ was 5.8% in our experiments.

Creatine Kinase↗