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Biomedical subjects

M Haltia

Publications and source records attributed to M Haltia.

At least 217 records · Page 12Linked to original sources
PubMed1975

Aspartylglycosaminuria: a generalized storage disease. Morphological and histochemical studies.

Aspartylglycosaminuria (AGU) is a hereditary metabolic disorder characterized by slowly progressive mental deterioration from infancy, urinary excretion of large amounts of aspartylglycosamine, and decreased activity of the lysosomal enzyme aspartylglcosamine amido hydrolase in various body tissues and fluids. The nature and distribution of the morphological and histochemical alterations in AUG are described in the light of the first AGU patient investigated post mortem and brain and liver. Most nerve cells and hepatocytes contained large vacuoles without any histochemically demonstrable lipid or carbohydrate material. Ultrastructural studies revealed numerous electron-lucent vaculoles, limited by a single, membrane, in the cytoplasm of these cells. In addition to evenly disperesed finely granular or reticular material the vacuoles contained small electron-opaque "lipid" droplets and polymorphic membraneous or granular aggregates. Similar vacuoles were also seen in a number of other cell types, particularly in the kupffer cells and brain macrophages, as well as in the capillary pericytes. Biochemical studies suggest that the principal storage material consists of aspartylglycosamine itself; glycoasparagines of higher molecular weight are present as only minor components. Correlated morphological and biochemical studies thus definitely establish that AGU is a generalized storage disorder. The condition is apparently due to decreased activity of aspartylglycosamine amido hydrolase, with accumulation of products of flycoprotein carabolism in cytoplasmic vacuoles in both epithelial and mesenchymal cells.

Adult↗
PubMed1975

Polyunsaturated fatty acid lipidosis. II. Lipid biochemical studies.

Lipid analyses were performed on cerebral tissue from three children who had died of a progressive encephalopathy and from one living child in an early stage of the disease. In the terminal stage of the disease, the cortex and white matter content of all lipid classes, particularly the sphingolipids, were very low. The concentration of gangliosides of the cerebral cortex was 10%, and of cerebrosides in white matter, 2-3% of the normal values for the age. The porportion of the minor gangliosides with short carbohydrate chains was increased because the reduction affected mainly the four major brain gangliosides GM1, GD1a, GD1b and GT1. In the child from whom the biopsy specimen was obtained in an early phase of the disease the cerebral lipid pattern appeared to be normal. A patient who had died of neuronal ceroid-lipofuscinosis (Janský-Bielschowsky) did not show any major lipid changes. The fatty acid patterns of the phosphoglycerides showed such changes as have never been observed in any other disease. In the three advanced cases the fatty acid compositions in cerebral cortex and white matter were identical. In ethanolamine phosphoglycerides the proportions of 18: 1 and 20: 4 (n-6) were increased, while those of 22: 4 (n-6) and 22: 6 (n-3) were markedly diminished. Similar changes in the fatty acid patterns were found in the other phosphoglycerides. In the early phase of the disease 22: 4 (n-6) was decreased and 18: 1 increased. We propose that this new disease be termed polyunsaturated fatty acid lipidosis (PFAL).

Adolescent↗
PubMed1975

Cerebral aspergillosis with special reference to cerebrospinal fluid findings.

A case of cerebral aspergillosis in a 69-year-old diabetic man is reported. The disease, initially presenting as headache and vertigo, was caused by Aspergillus fumigatus. Seven CSF specimens were examined. The main findings included decreased glucose and increased protein concentrations, leukocyte reaction and one positive culture for A. fumigatus. Neuropathological examination revealed granulomatous leptomeningitis and typical fungal hyphae. The process probably lasted for more than 1 year and was an important contributing factor to two brain stem infarcts.

Aged↗
PubMed1974

Radiation myelopathy of cervical spinal cord simulating intramedullary neoplasm.

Radiation myelopathy is a well-known complication of irradiation therapy of neoplasms in the vicinity of the spinal cord. Most earlier authors have stressed the association of a normal myelogram and normal CSF protein level with this condition. One case of radiation myelopathy with a myelogram simulating intramedullary neoplasm and with extremely high CSF protein concentration is presented. Six months after myelography necropsy revealed severe atrophy of the previously thickened lower cervical spinal cord. The pathogenetic mechanisms are discussed.

Atrophy↗