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Biomedical subjects

M Elleder

Publications and source records attributed to M Elleder.

At least 19 recordsLinked to original sources
PubMed1992

Chromatography and spectrofluorometry of brain fluorophores in neuronal ceroid lipofuscinosis (NCL).

The aim of the present work was to develop a chromatographic system for the separation of individual fluorophores extracted from neuronal ceroid lipofuscinosis (NCL) brain and isolated storage bodies. Extracts from gray matter were best resolved on silica-gel HPTLC plates using a mixture of chloroform/methanol/water (55:45:10 by vol.). Two other chromatographic systems were tested which gave poorer separation. Corrected fluorescence spectra were obtained on the original extract and fluorescence intensity, especially at longer wavelengths was increased in both samples. Yellow and blue fluorophores were detected on HPTLC plates using a primary violet and secondary yellow filter with cut-off levels of 400 and 520 nm, respectively. Plates were photographed at 20 min, 2 h and 1 week after chromatography. With this filter system, up to 12 yellow bands of differing intensity were observed at 20 min but with time, some of these changed to blue as a result of autoxidation. NCL tissues emit yellow fluorescence when viewed under light microscopy, however extracted material did not demonstrate a distinct peak in this region of the spectrum which should be around 575 nm. HPTLC confirmed this observation and time studies revealed that autoxidation changes occur and must be carefully controlled to reduce artifacts. The discrepancy between extracted and non-extracted observations may be the result of superposition of multiple fluorophores with differing maxima and/or a self-absorption phenomenon. The combination of chromatographic separation and spectral analysis as described in this study, may be a valuable technique to further clarify the characteristics of compound fluorescent lipopigments. It is suggested that NCL fluorophores of human brain differ in their properties from other models.

Brain Chemistry↗
PubMed1992

Eccrine gland involvement in Krabbe's disease.

Lysosomal storage inclusions were observed in skin eccrine gland secretory and myoepithelial cells in three cases of Krabbe's disease. In addition to storage there were numerous degenerative changes, occasionally resulting in cell necrosis. These findings suggest a generalized nature of the storage process in this lysosomal enzymopathy and point to high galactocerebroside turnover in eccrine gland epithelium. This knowledge may be of value in the biopsy diagnosis of Krabbe's disease.

Child↗
PubMed1992

Foamy transformed Gaucher cells.

Two cases of Gaucher's disease (Types I and III) are described with a substantial part of the storage cell population in several organs (liver, adrenal cortex) intensively vacuolized and transformed into non-specific foam cells. The transformation process encompassed massive three-dimensional distension of the lysosomal system filled with typical lipid tubules as well as severe reduction of the intervening cytoplasm and decrease or disappearance of histochemically detectable enzyme activities, high in typical Gaucher cell (GC). Such an extensive GC foamy transformation may cause diagnostic embarrassment in microscopic interpretation especially of liver biopsies.

Adrenal Cortex↗
PubMed1991

Congenital histiocytosis. A heterogeneous group of diseases, one presenting as so-called congenital self-healing histiocytosis.

Three cases of congenital histiocytic disorders--generalized Langerhans cell histiocytosis, generalized juvenile xanthogranuloma and so-called congenital self-healing histiocytosis are compared using histiochemical, immunohistochemical and ultrastructural methods. The results showed a typical morphological pattern of Langerhans cell histiocytosis (S 100+, CD 1+, alpha-mannosidase +) with an unusual self-healing cutaneous phenomenon. The congenital self-healing histiocytosis showed a non-Langerhans cell immunophenotype (CD 14+, CD 1-, S 100-) and morphological appearance resembling the evolutive "early" stage of juvenile xanthogranuloma. A diffuse cellular positivity of alpha-mannosidase in juvenile xanthogranuloma and congenital self-healing histiocytosis differed from a typical perinuclear globular positivity of this enzyme in Langerhans cell histiocytosis. It is concluded that congenital self-healing histiocytosis may in some cases be of non-Langerhans cell type and under this term a clinically characteristic syndrome of histiocytic proliferation of Langerhans cells or tissue histiocytes may be included.

Biomarkers↗
PubMed1991

[Diagnosis of G(M2) gangliosidosis in routine practice].

Diagnosis of GM2 gangliosidosis and other most frequent thesaurismoses of the central nervous system was exposed on a case of a 2-year-old boy. Diagnostic process which exploited routine methods commonly used in every department of pathology enabled to choose chemical and enzymological investigation of brain tissue.

Brain↗
PubMed1991

[Difficulties in the diagnosis of Gaucher's disease].

The first diagnostic phase of Gaucher's disease is based on correct evaluation of clinical history as well as on finding of typical striated Gaucher's cells in bone marrow. Nevertheless, there can occur surprising diagnostic faults in spite of believed easy identification of this classic storage disease. They can be caused by a primary atypical or secondary modified clinical phenotype. Another source of diagnostic error or hesitation can be in an atypical appearance of Gaucher's cells because of poorly distinct cytoplasmic striation (solid voluminous cytoplasm) or classical vacuolized pattern.

Adult↗
PubMed1979

Alkaline Phosphatase Activity Induction in Human Spleen Sinuses in Storage Diseases.

Human splenic sinuses were observed for the induction of alkaline phosphatase (AP) activity in mucopolysaccharidoses of type I and II, in GM1 gangliosidosis, and in Niemann-Pick's disease, type A. A substantially lower degree of activity was found in Sanfillipo's disease, type A, and in hemosiderin pigmentation of the sinuses. In a number of hematological affections and in control spleens AP activity could not be proved by histochemical means. From the formal pathogenetic view, enzyme activity induction is probably related to lysosomal deposition of the material stored.

Enzyme Induction↗
PubMed1979

Comments on spleen sinus enzyme equipment. A histochemical study.

Histochemical observations were made of the activities of nucleosidephosphatases splitting ATP, ADP, IDP, and AMP and exopeptidases splitting l-alanine, l-leucine and l-glycyl-proline in the spleen sinuses of man, mouse, rat, hamster, and rabbit. Of the exopeptidases, only glycylprolyl-naphthylamidase could be proved histochemically, and that only in man and rat. Nucleosidephosphatases showed only traces of activity except in the rabbit where there was highly active AMP-ase, the others being moderately active.

Acid Anhydride Hydrolases↗
PubMed1978

A histochemical and ultrastructural study of stored material in neuronal ceroid lipofuscinosis.

A histochemical and ultrastructural study of five cases of neuronal ceroid lipofuscinosis (NCL) revealed the existence of two related lipopigments differing in some tinctorial properties and ultrastructure. Type I pigment is present in all the tissues affected and corresponds to the pigmentary tertiary lysosomes of well known ultrastructure. Type II pigment occurs exclusively in the neurones of lipophilic cerebral grisea, as a component of the so called protein-myoclonic bodies. It shares with type I certain basic tinctorial properties of lipopigment and its lysosomal localization, but differs in other respects. It stains poorly if at all with the PAS and PAF techniques and is markedly metallophilic, azurophilic and positive for protein. Type II pigment is extremely electron-opaque after staining with heavy metals to the extent that they appear practically amorphous. The possibility that type II material is derived from type I pigment is considered. The amount of type II pigment is highly variable. Both types of pigments are present in residual bodies of various shape and size, including spheroids.

Brain Chemistry↗
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↗
PubMed1978

[Histochemistry as a diagnostic technic in the classification of hematopoietic-system tumors].

106 tumours involving the haematopoietic system were examined using a wider range of histochemical methods, particularly enzymatic ones. The results were compared with other diagnostic techniques. A critical analysis of the results showed that as regards the purely diagnostic aspect the significance of histochemistry was severely limited to practically no more than tumours of the granulocytic series (myeloperoxidase and chloracetylesterase activities). Proof of alpha--mannosidase activity appeared to be greatly promising in the group of histiocytosis X. In the rest of the series, particularly in the lymphatic and thrombocytic series, the diagnostic significance of histochemistry proved to be either limited or non-existent. Considering the present state of methods used, the main advantage of histochemistry is in that it helps add details to the metabolic profile of the tumour under study. Some of the problems of the conception of the so called markers are discussed.

Hematopoietic System↗
PubMed1978

[Histological, electron-optical and histochemical findings in mycosis fungoides].

Skin excisions were investigated in 5 patients with verified mycosis fungoides. Findings yielded by light and electron microscopy helped to confirm the findings anticipated, and were correlated with histochemical observations. One of the cases involved a substantially higher activity of lysosomal enzymes, particularly KF and beta-glucuronidase in the skin infiltrate mycotic cells. In the other cases, this sort of activity was low. The significance of high ATPase activity in the peripheral cell membrane remains unclear. In one case, involvement in the T lymphocyte series was confirmed by the formation of rosettes.

Aged↗
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

alpha-D-mannosidase activity in histiocytosis X.

A histochemical study of enzymatic activities was undertaken in five cases of histiocytosis X (two localized bone forms, two generalized forms, and one involving mainly the skin), each of which revealed characteristic structural features at the optical and ultrastructural levels. A confirmation was made of the original assumption of high acid alpha-D-mannosidase activity, i.e. activity described in human Langerhans intraepidermal cells (Elleder, 1975). In the control group of tumors, with the exception of urticaria pigmentosa, enzyme activity was either at trace level or altogether absent. Acid alpha-D-mannosidase activity therefore appears to be the first biochemical feature common to both histiocytosis X and the Langerhans cells. The significance of the finding for the present theory of the histogenesis of the above tumors is discussed.

Biopsy↗