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F Smíd

Publications and source records attributed to F Smíd.

35 records · Page 2Linked to original sources
PubMed1984

Liver findings in Niemann-Pick disease type C.

A complex analysis of liver from a series of eight cases of Niemann-Pick disease type C showed practically generalized storage of glycolipids and phosphoglycerides by chemical and histochemical techniques. In six of the eight cases the storage process was of low degree, barely recognizable by routine histology, but well recognizable by histochemistry and electron-microscopy. In two cases it was marked and led to early functional impairment of the liver. Changes in various enzyme activities and in ultrastructural features of the storage process are described. Sphingomyelin was found to participate to a very low low degree and its accumulation was not proportional to the extent of overall storage. In two cases with prominent involvement of the liver normal levels of sphingomyelin were found. In other cases sphingomyelin was found, by lipid histochemistry, to be stored only in macrophages. To stress that the storage process in Niemann-Pick disease type C is qualitatively different a comparison was made with liver findings in sphingomyelinase-deficient patients. This feature is of practical as well as theoretical importance.

Acid Phosphatase↗
PubMed1984

Multiple sulphatase deficiency in homozygotic twins.

Multiple sulphatase deficiency was studied in 3 siblings--one pair of monozygotic twins and their sister. The children's psychomotor development was arrested at the age of 18 to 24 months, and the hypotonic syndrome combined with signs of spasticity appeared. There was marked hepatosplenomegaly, conspicuously dry scaly skin with the decortication syndrome developing and persisting in the presence of pronounced cachexia. Also present were numerous X-ray abnormalities, metachromatically staining granules in the urine, and Alder- Reilly 's bodies in the blood leukocytes and in specimens of bone marrow. Liver, skin and muscle biopsies performed simultaneously revealed accumulations of water-soluble mucopolysaccharides and deposits of sulphatides in the two twins. Enzyme assays demonstrated arylsulphatase A and B deficiency. The diagnosis was subsequently confirmed at all the three siblings' postmortem examinations.

Child↗
PubMed1982

Mutagenicity of glycerol chlorohydrines and of their esters with higher fatty acids present in protein hydrolysates.

3-chloro-1,2-propanediol and 1,3-dichloro-2-propanol caused base substitutions in Salmonella typhimurium TA1535 both with and without metabolic activation. Metabolic activation seemed to act mainly by decreasing the toxicity of these compounds. A difference in the growth of the wild-type and repair-deficient strains of Escherichia coli was observed only for 1,3-dichloro-2-propanol with S9 mix. Esters of both chlorohydrines with fatty acids has smaller mutagenic effects than unesterified compounds.

Animals↗
PubMed1978

An unusual case of phospholipidosis.

We present the results of a structural, histochemical and lipid-chromatographic study of tissues obtained at postmortem from an unusual case of phospholipidosis. A previous biopsy of the appendix and liver (Elleder et al., 1975a) had revealed a predominance of phosphoglyceride storage, principally of lysobisphosphatidic acid (LBPA) postmortem material showed that this lipid was stored exclusively in central neurons. In the spleen and the lymph node, however, sphingomyelin (SP) was shown, histochemically and chromatographically, to be the main lipid stored. Total sphingomyelinase (SPase) activity in the appendix was reduced to about 50% of normal. Neuroaxonal dystrophy (NAD) and a conspicuous discrepancy between the degree of distension of some neurons and their lipid content deserve special mention. The case is contrasted with classical sphingomyelinosis; the complexity of the Niemann-Pick group of diseases is discussed as an indication of the difficulties of classification of any atypical case.

Appendix↗
PubMed1977

Lysosomal non-lipid component of Gaucher's cells.

An ultrastructural, histochemical and chemical analysis of storage elements in the infantile form of Gaucher's disease showed that in addition to cerebroside the lysosomes also included a non-lipid component of protein, or possibly glycoprotein nature. This component, easily removable with trypsin, was present in such quantities that it conditioned the typical solid and fibrillar appearance of storage elements even after they had been substantially delipidized. Another noteworthy finding was that the ultrastructural appearance of tubular structures generally regarded as stored cerebrosides persisted in all the extracted specimens without any noticeable change. The findings are compared with available data from the literature and their significance briefly discussed.

Cerebrosides↗
PubMed1977

Peripheral nervous system affection in experimental lipidosis induced by 4,4'-diethylaminoethoxyhexesterol.

A picture of generalized phosphoglyceride and cholesterol storage was induced, in keeping with literary data, by the experimental administration of 4,4'-diethylaminoethoxyhexesterol to rats. An asset of this model lies in the discovery that considerable storage occurs in the peripheral nervous system in contrast to the CNS, whose resistance to hexesterol is generally known. The significance of this finding is briefly discussed.

Animals↗
PubMed1975

Niemann-Pick disease (Crocker's type C): A histological study of the distribution and qualitative differences fo the storage process.

A histochemical study is reported of regional differences of the lipid storage in a case of Niemann-Pick disease (NPD) type C. Besides tissues known to be affected (reticulo-endothelium, hepatocytes, nervous system), storage was demonstrated in adrenal cortical spongiocytes, sweat glands, renal glomerular and tubular cells, smooth muslce, excretory tubules of some salivary glands, ependyma and in choroid plexus. In most tissues were stored sphingomyelin, cholesterol and a small amount of a glycosphingolipid. In the endothelium of cerebral and spinal vessels the main stored lipid was a glycosphingolipid. The significance of these regional differences are discussed and their study is recommended as a useful counterpart to the biochemical investigation.

Adrenal Cortex↗
PubMed1975

Lipidosis with a predominant storage of phosphoglycerides (phospholipidosis type II--Baar, Wiedemann).

A case of a 27 month old girl suffering from a rare form of lipidosis is described. Clinical symtoms consisted of a moderate hepatosplenomegaly and a progressive psychomotor retardation. Bioptical examination of the liver, appendix and skin revealed a pronounced lipid storage in histiocytes, hepatocytes, vascular endothelium and in peripheral nervous system. Histochemically, a generalized storage of phosphoglycerides and cholesterol was found. It was accompanied with a moderate amount of sphingomyelin and a variable amount of glycolipids (predominantly glycosphingolipids), the latter being stored mainly in the peripheral nervous system and in the vascular endothelium. Chromatographically, an increased concentration of lysobisphosphatidic acid and cholesterol could be detected. The ultrastructure of storage cytosomes was rather pleomorphic often with concentrically lamellar appearance. Further details of the investigation are described and the relation of this case to those described by Baar and Hickmans (1956) and Wiedemann et al. (1972) is stressed. Due to a strong evidence that this group of diseases represents a new type of phospholipid storage disease the name "Phospholipidosis Type II" (Baar-Wiedemann) or "Phosphoglyceridosis" is proposed, whereas "Phospholipidosis Type I" or "Sphingomyelinosis" should be reserved for the classical Niemann-Pick complex.

Appendix↗