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Biomedical subjects

M Elleder

Publications and source records attributed to M Elleder.

At least 127 records · Page 7Linked to original sources
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↗
PubMed1984

Ito cells in lysosomal storage disorders. An ultrastructural study.

An ultrastructural study was performed in a series of liver biopsies from patients with various lysosomal storage diseases to evaluate the extent of lysosomal hypertrophy and hyperplasia in Ito cells (ICs). In previous studies this has been considered to be absent or only rudimentary. Lysosomal storage was recognized by the presence of storage cytosomes surrounded by limiting membranes and by the appearance of their content which was identical to that in other hepatic storage lysosomes. Storage was found in sphingomyelinase deficiency (Niemann-Pick disease types A, B), in Wolman's disease, GM1 gangliosidosis, mucopolysaccharidosis and in multiple sulphatase deficiency. In type C Niemann-Pick disease it was virtually absent with the exception of cases with prominent hepatic symptomatology. Storage was of variable degree and was accompanied by a decrease in the physiological fat content (cytoplasmic lipid droplets). The degree to which ICs were affected correlated only with the extent to which nonspecific fibroblasts were involved in the specimens studied and thus seems to reflect storage in the fibroblastic population.

Glycogen Storage Disease↗
PubMed1984

[Disseminated histiocytosis X].

Three cases of 4-year-, 16-month- and 8-month-old children suffering from a disseminated form of histiocytosis X showed overlapping of Hand-Schüller-Christian syndrome and Letterer-Siwe syndrome in clinical picture, biopsy and autopsy. Morphological lesion does not develop simultaneously in all the organs. Some of them tend to steatosis and fibrosis of histiocytosis infiltrations, which the others do not.

Child, Preschool↗
PubMed1984

[Histocytology of lymphatic tissue].

A more detailed analysis of lymphatic tissue showed its sophisticated cytology. About 35 types of cells shared in structure in a confined space. Their most important diagnostic criteria in the light and electron microscopy, histochemistry, and immunohistology were reviewed. Testing group features in advance seemed to be advantageous beginning with lymphocytes, lymphoplasmatic elements, polymorph lymphatic cells, lymphoblasts, histioreticular and vascular cells. A further subgrouping is mostly feasible especially by electron microscopy.

Humans↗
PubMed1983

Niemann-Pick disease (variation in the sphingomyelinase deficient group). Neurovisceral phenotype (A) with an abnormally protracted clinical course and variable expression of neurological symptomatology in three siblings.

We report three families with five cases of sphingomyelinase (SMase) deficiency, early neurovisceral symptomatology, and a conspicuously protracted course (7-22 years) in contrast to the characteristic acute, rapidly lethal course in classical type A cases. Most of the visceral symptoms were hepatomegaly and splenomegaly, with numerous foam cells in the bone marrow, some of them containing ceroid (sea-blue histiocytes). Histochemical and chemical biopsy studies (liver, skin, bone marrow) revealed macrophage and epithelial sphingomyelinosis and profound SMase deficiency. The dominant neurological symptoms in three of the cases included extrapyramidal involvement, marked mental deficiency, and cherry red spots in the fundus oculi of all the 5 cases. There was, however, a striking variability in the clinical signs in three siblings. The first of them, a girl, died at 7 years from purely visceral involvement with massive affection of the lungs. Despite the absence of clinically detectable, neurological symptomatology there was discrete regional neuronal storage in the brain. Her two younger brothers are still alive. The elder one (22 years) has been reduced to complete neurological invalidism while his younger brother (18 years) has no demonstrable neurological changes, and enjoys normal social integration. Symptomatologically, he is difficult to distinguish from type B, especially from its rare variants with retinal involvement. The discussion is devoted to differences between types A and B of the SMase deficiency and to the neurological symptomatology apparently independent of the gene dose in the three siblings.

Adolescent↗
PubMed1983

Adult neurovisceral lipidosis compatible with Niemann-Pick disease type C.

The authors present a case of neurovisceral storage disease with the whole of its clinical course confined to adult life (symptoms from 26 to 46 years of age) and marked by mainly neurological symptomatology with dystonia, vertical supranuclear ophthalmoplegia and progressive mental deterioration as the dominant features. From the results of postmortem structural histochemical and chemical analysis the case was diagnosed as Niemann-Pick disease type C. This case, together with sporadic observations reported by other authors, represents a significant shift in our view of the incidence of NPD type C in older age groups.

Age Factors↗
PubMed1983

New enzymatic findings in infantile neuroaxonal dystrophy.

Two siblings with infantile neuroaxonal dystrophy (INAD) exhibited highly increased activity of nonspecific esterase (resistant to physostigmine and sensitive to organophosphates) topically correlating with the morphological manifestations of the disease (spheroids), confined in those two particular cases to the central nervous system (CNS). This is demonstrated for the first time. NADH tetrazolium reductase was another enzyme noted with increased activity and similar topography. The lesions were devoid of any marked activity of typical mitochondrial (succinate and alpha-glycerolphosphate) dehydrogenases and lysosomal (acid phosphatase and beta-glucuronidase) enzymes. The diagnostic significance of monitoring non-specific esterase and NADH tetrazolium reductase activities in the diagnosis of INAD is discussed in particular.

Acid Phosphatase↗
PubMed1983

A histochemical study of the enzyme profile of Krabbe's cells.

A histochemical study of the enzyme profile of Krabbe's cells revealed a high activity of lysosomal enzymes, including the tartrate-resistant isoenzyme of acid phosphatase, and considerable activity of extralysosomal nonspecific esterase and mitochondrial and extramitochondrial dehydrogenases. The presence of lysozyme was demonstrated. This generally high metabolic activity was found closely reminiscent of that in Gaucher's cells and in epitheloid transformed macrophages though quite unlike the exclusive predominance of lysosomal enzyme activity typical of classical foamy storage cells in Niemann-Pick and Wolman's disease.

Acid Phosphatase↗
PubMed1983

Niemann-Pick disease: lipid storage in bone marrow macrophages.

A histochemical study of lipids in bone marrow smears was performed in a series of 15 cases of Niemann-Pick disease (NPD). It revealed significant differences in the amount of lipids stored in macrophages of sphingomyelinase (SMase) deficiency (types A, B) and type C. Early deposition of uniform, anisotropic droplets of sphingomyelin (Maltese-cross birefringence) in lysosomes was a feature of a 9-member group of SMase deficiency (types A, B). The type C group (six cases) was characterized by a remarkable difference in the degree of phospholipid, mainly sphingomyelin, deposition. The total amount of phospholipids was small on average, and very often inversely proportional to pronounced structural storage changes. This indirect relationship was most prominent in the early phase of the disease and grew less prominent as the disease progressed further. The stored lipid was primarily isotropic. In longer lasting cases of both categories (SMase deficiency and type C) a considerable part of the storage cell population displayed ceroid deposition giving the appearance of a 'sea-blue histiocyte' independent of the type of NPD, but with definite predominance in SMase deficiency. The diagnostic value of the findings is discussed, and some pathogenetic conclusions suggested, particularly as regards type C. Lipid histochemistry of bone marrow smears is highly recommended as it represents a simple but highly efficient approach, capable of yielding valuable diagnostic information.

Adolescent↗
PubMed1982

Culture of macrophage cell lines from normal mouse bone marrow.

The use of semisolid medium for the culture and cloning of haematopoietic cells has helped our understanding of their proliferation and differentiation. It has been shown that mixed colonies of granulocytes and macrophages developed, in the presence of colony-stimulating factor (CSF), from their common precursor, granulocyte-macrophage colony-forming cells (GM-CFC). Attempts at recloning these colonies in semisolid medium suggested that granulocytes and macrophages were differentiated cells incapable of further proliferation. However, our studies on cultures of larger numbers of cells demonstrate that while this may be the case for granulocytes, macrophages seem to be capable of long-term proliferation.

Animals↗
PubMed1982

Effect of cold adaptation on total enzyme activities of L cells.

Using cytochemical methods, the authors tested enzymatic reactions in L-As and L-C3 cells. They found that esterase activity in particular, but also several other enzyme activities, were higher in L-C3 cells than in L-As cells. This furnished further evidence of the raised metabolic activity of the cold-resistant cell subline L-C3 compared with the L-As line.

Acclimatization↗
PubMed1981

Neuropathology of various types of Niemann-Pick disease.

A comparative neuropathological and histochemical study was performed on the brains of seven cases of NPD. In type A (two cases), besides the neuronal storage of SM, a widespread endothelial storage of a neutral glycosphingolipid was found. In one case a pseudosystemic lesion of the pallido-nigral system was observed. In type B (one case) the only finding was the endothelial storage of SM. In type C (four cases) the degree of neuronal storage distension contrasted considerably with a very low amount of lipid demonstrable histochemically in fixed brains. Only in one case, focal neuronal storage of a phosphoglyceride could be proved. However, in peripheral neurons (of unfixed appendix) the phosphoglycerides were clearly predominating (one case). A remarkable and constant finding in each case of the series was a widespread neuroaxonal dystrophy with various topical maxima (thalamus, dentate nuclei). The significance of the findings are discussed in relation to the present status of knowledge of this type.

Axons↗