Biomedical subjects
Publications and source records attributed to A Federico.
The effect of vincamine TPS intraperitoneal injection on brain lysosomal enzyme activity is reported. After acute drug administration, an activation of almost all enzymes was found, confirming the "vasometabolic" effect of this drug.
The brain glycoconjugates, glycosidases and lipids have been studied in a case of human congenital athyroidism never treated with hormonal replacement. Increase of membrane-bound mucopolysaccharides has been found in the grey matter. Total lipids in the white matter, and phospholipids, and total glycolipids and cholesterol in both white and grey matter were reduced. Sialic acid (NeuNAc) and hexosamines in the cytosol grey matter were significantly raised, while they were reduced in the membrane-bound grey fraction. These biochemical findings confirm impairment of the myelination process in human hypothyroidism as is well established in experimental hypothyroidism. The significant changes in the carbohydrate moieties of the brain glycoproteins focus attention on complex alterations of structure and function of the cell plasma membranes.
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A clinical, neuropathological and neurochemical study of a case of Anderson-Fabry's disease is described. The clinical course mainly consisted of repeated ictus with major involvement of the CNS. The neuropathological examination is dominated by severe alterations in the cerebral vessels due to glycolipid deposits on the walls, with reduction or occlusion of the lumen. This is correlated with secondary ischaemic foci scattered throughout the cortex as well as through the white matter. In addition, the cells of the cerebral cortex, thalamus, basal ganglia, amygdala, cerebellar and olivary nuclei show a marked accumulation of lipofuscin. Biochemical examination reveals a threefold increase in galactolipids due to the specific alpha-galactosidase deficiency. Cholesterol is reduced secondarily to ischaemic myelin damage. Glycosaminoglycans uronic acid is increased in cytosol and membrane-bound fractions which could be related to reactive gliosis. Glycoprotein sugars show a decrease in N-acetyl-neuraminic acid and fucose as well as an increase in hexosamines and hexoses in membrane-bound fraction, while in cytosol fraction all sugars are increased. This suggests that the alpha-galactosidase deficiency can alter not only the glycolipid but also the glycoprotein metabolism, resulting in a higher presence of hexosamines and hexoses-rich glycoproteins.
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A case of a child with Sanfilippo B syndrome (MPS III B), born of a consanguineous marriage, is reported. Urinary mucopolysaccharide analysis showed an abnormal excretion mainly of heparan sulphate. N-acetyl-a-glucosaminidase activity was absent in the patient but was present in the heterozygous range in parents and siblings. CSF mucopolysaccharides were also abnormally high. In fibrocytes from conjunctival biopsy and CSF cells numerous vacuoles containing storage material were found. The presence of vacuoles in fibrocytes from conjunctival biopsy and/or in CSF cells can be useful in the diagnosis of many suspected lysosomal storage disorders.
Three members of a family were found be suffering from lead poisoning of nonindustrial origin, the causative agent being the home-produced wine left to ferment in a glazed earthenware vat. The clinical and neurophysiological features are discussed in the light of similar cases in the literature. Correct diagnosis and early treatment of nonindustrial lead polyneuropathy are often extremely difficult because of the elusive nature of the exposure.
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Several glycosidase activities were measured in frontal gray matter of 4 brains from subjects affected by Creutzfeldt-Jakob disease. The changes of N-acetyl-beta-glucosaminidase, N-acetyl-beta-galactosaminidase, beta-glucosidase, alpha-fucosidase and alpha-mannosidase were not statistically significant but significant increases of beta-glucuronidase and beta-galactosidase activities were found. These results are in accordance with several reports on brain glycosidases in scrapie and Semliki Forest virus-infected brain and could explain some changes in brain glycoconjugate content previously observed in human and experimental Creutzfeldt-Jakob disease.
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A biochemical study of a case affected by Creutzfeldt-Jakob disease is reported. Changes were found in soluble and insoluble proteins, glycoproteins and mucopolysaccharides and in total lipids, glycolipids, phospholipids and gangliosides. Also CNPase, choline acetyltransferase, 5'-nucleotidase and several glycosidases have an altered activity. All these data give a complete neurochemical pattern of the changes underlying the morphological and functional alterations in this disease.
Macular cherry-red spot, myoclonus and progressive mental deterioration are described in a man of 16 years. Morphological examination of the liver, bone marrow and fibroblasts showed numerous vacuoles containing storage material in the cytoplasm of the cells. Twelve different oligosaccharides were isolated from urine and their structures were determined. All have N-acetylglucosamine in a reducing end and (2--3) and 2--6) neuraminic acid in the terminal position. This abnormal urinary oligosaccharide excretion is due to absence of (2--6) neuraminidase which was not detected in fibroblast culture. This case is discussed in relationship to other cases with macular cherry-red spot, myoclonus and oligosaccharide urinary excretion.
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