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Biomedical subjects

G Bernscherer

Publications and source records attributed to G Bernscherer.

6 recordsLinked to original sources
PubMed2000

[Refsum disease].

For the first time in literature the authors interpret the pathography of Refsum's disease, in the case of their patient, as pseudo-hypervitaminosis A. The biochemical basis of the clinical picture is a defect in the activity of phytanic-acid-alpha-hydrolase belonging to the peroxisomal system. As a consequence, phytanic acid accumulates in the serum and in the parenchymal tissues. Retinol, an alcohol with high molecular weight, is a natural ligand of nuclear RXR (retinoid-X-receptor), which plays an important role in the regulation of peroxisoma synthesis. In Refsum's disease the phytanic acid accumulated because of the enzyme defect competes with the biotransformation derivates (all-trans-retinoic acid, 9-cis-retinoic acid) of the all-trans-retinol (vitamin A) for the nuclear RX receptor binding sites, and as a very potent receptoractivator it causes the intestinal symptoms of hypervitaminosis A. The authors review the procedure of fatty-acid chromatography necessary for the establishment of the diagnosis and discuss--in addition to dietary restrictions--recent therapeutic possibilities, like plasmapheresis, cascade filtration, lipapheresis and oral batylalcohol treatment.

Child, Preschool↗
PubMed1998

[Successful treatment of acute ethylene glycol poisoning with plasmapheresis].

The authors show the differential diagnostics, therapy and patomechanism of the ethylene glycol intoxication in connection with review of their young patient became acute paraparetical in consequence of the intoxication. In the therapy of the ethylene glycol intoxication, instead of the traditionally proved hemodialysis their patients was treated with great efficiency with plasmapheresis. The authors show the patomechanism of a patient came with atypical Guillain-Barré-Syndrome. In the hinterground of an acute paraparesis was an ethylene glycol intoxication identified. In the therapy of this intoxication their patients was treated with great efficiency with plasmapheresis instead of the traditionally proved haemodialysis. They touch upon the possibility of monitoring with gas chromatography of the patients plasmapheretised, and call attention the easy check of the sodium fluorescein content of the antifreeze additive therefore the rapid recognition of the intoxicated status.

Adult↗