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At least 289 records · Page 16Linked to original sources
PubMed1978

[Sea-blue histiocytosis. Clinical and immunological study of a familial case].

This case (a young man) presented a clinical picture of a hard periorbital edema, hepatosplenomegaly and a mild bilateral pulmonary fibrosis. The histopatological pattern of our case (as well as his sister affected with the same syndrome) was characterized by the presence of macrophages full of blue staining granules and bone marrow macrophagic infiltrations. In the pulmonary function tests the volumes and compliance test and diffusing capacity were normal. The enzymatic deficit of the macrophage leads to the increase storage of phosphoglicerides and phosphosphingolipids responsibles for the blue staining with Wright-Giemsa stain. Our case fit into the specific pathology of the macrophage cell in accordance with the more recent views of the autonomy of the MPS (Mononuclear Phagocytic System). The known relationship between macrophages and T and B lymphocites have prompted us to study the cellular and humoral immunological behaviour of our case. We have observed an increased IgM immunoglobulins and an increase of IgM surface membrane receptors. Our results will be illustrated and compared with the until known 70 publicated cases.

Adult↗
PubMed1978

[Cherry red spot without secure evidence of sphingolipidosis (author's transl)].

The occurence of bilateral cherry red spot without neurological disorders is a rare event. The reported case is a girl aged 14 years, whose only complaint was slight deterioration of vision. No secure enzymatic defects was found on examination of leucocytes. Though the cherry red spot is hardly to be explained in another way than by storage in optic ganglion cells. Static perimetry revealed a paracentral depression of contrast sensitivity.

Adolescent↗
PubMed2000

Beyond a structural component: sphingolipids in immunology.

Two major classes of lipids participating in signaling cascades in immune cells are known today. One comprises glycerol-based lipids with diacylglycerol as its most prominent member that mediates the activation of classical and novel protein kinase C molecules. The second group contains the sphingolipids, with the best-investigated representatives being sphingosine, sphingosine-1-phosphate, and ceramide. In the last years the latter two molecules have especially received considerable attention for their modulatory capacity in the course of an apoptotic response. Today it is clear that sphingolipids are ubiquitously distributed in all eukaryotic cells, especially in cellular membranes, where they were previously thought to fulfil an exclusively structural role. Recent findings, however, have demonstrated functions beyond this. Sphingolipid specific G-protein coupled receptors were identified and their role as intracellular second messengers has been further elucidated. In addition, glycosphingolipids, in particular, are enriched in certain membrane compartments, known as detergent resistant membranes. These serve as entry sites for several receptor-mediated signaling events by stabilizing receptor/kinase interactions, suggesting an involvement in the initiation of signaling cascades. Altogether, these findings have led to new insights into both the role of these lipids in signaling as well as the underlying pathology of several diseases with imbalances in the sphingolipid metabolism. The development of these disorders has mainly been attributed to the toxic potential of lysosphingolipids up to now. In addition, attempts have been made to develop compounds and drugs containing the sphingolipid backbone for influencing diseases associated with unwanted cell activation (e.g, cancer, inflammatory processes). These novel findings and developments are reviewed in the following.

Animals↗
PubMed2001

[Acid phosphatase, ACP (EC 3.1.3.2)].

Acid phosphatase (ACP) is a hydrolytic lysosomal enzyme secreted by a number of cells including blood cells as well as by the prostate, bones, liver and other tissues. Several isozymes of ACP have tissue specificity. The isozymes can be fractionated by electrophoresis into six bands. Prostatic ACP (bands 2-4) is frequently measured for the diagnosis of prostatic disease. Band 5, tartrate resistant ACP (TRACP) consists of two isoforms, bands 5a and 5b. TRACP 5b is considered to be a marker of the osteoclasts and 5a is found in Gaucher's cells, or in the leukocytes of patients with hairy cell leukemia.

Acid Phosphatase↗
PubMedDate not supplied

[Non specific leukodystrophy. A new case of vacuolizing leukoencephalopathy with megalencephaly].

INTRODUCTION: Amongst the conditions affecting the white matter, the disorders of myelinization, including the leukodystrophies, are important in the field of paediatric neurology. Although classically they have been classified according to whether the metabolic defect was known or not, at the present time great advances in neuroimaging have clarified many genetic disorders involving the white matter and new classifications have been devised. The group of unknown aetiology includes the so called non specific leukodystrophies, characterized by their onset in infancy with a usually more moderate clinical course, and neuro imaging (computerized tomography CT magnetic resonance MR ) with alteration of the signal from the white matter which is symmetrical, bilateral and diffuse. Study and investigation of the patterns of MR has permitted isolation of two new clinical conditions of the non specific leukodystrophies group: leukodystrophy with megalencephaly and temporal cysts (Van der Knaap, 1995) for which currently the term vacuolizing leukoencephalopathy with megalencephaly is preferred and the CASH syndrome (childhood ataxia with central hypomyelinization or vanishing white matter disease) (Van der Knaap, 1997). DEVELOPMENT: We present a review of nine cases of non specific leukodystrophies with an average course of 13 years. They were studied using the protocol of the European working party on demyelinating diseases. One of these fulfilled clinical and radiological criteria for the diagnosis of vacuolizing leukoencephalopathy with megalencephayl: onset in early childhood, macrocephaly, normal metabolic studies, moderate progression and alteration of the white matter signal which was bilateral, symmetrical and diffuse with the presence of oedema and temporal subcortical cysts. We discuss the most relevant articles currently published on this condition.

Adolescent↗
PubMed2003

Mass spectrometry in the study of lysosomal storage disorders.

Lysosomal storage disorders represent a group of over 45 distinct genetic diseases, each one resulting from a deficiency of a particular lysosomal protein or, in a few cases, from non-lysosomal proteins that are involved in lysosomal biogenesis. A common biochemical feature of this group of disorders is the accumulation within lysosomes of undegraded or partially degraded substrates that are normally degraded within, and transported out of the lysosome. The particular substrates stored and the site(s) of storage vary with disease type and enzyme/protein deficiency. The nature of the substrate can be used to group the disorders into broad categories including the mucopolysaccharidoses, lipidoses, glycogenoses and oligosaccharidoses. These categories show many clinical similarities within groups as well as significant similarities between groups. For most lysosomal storage disorders the relationship between the stored substrates (type, amount and location) and the disease pathology is not well understood. The use of mass spectrometry and in particular tandem mass spectrometry provides a powerful tool for the investigation of stored substrates in this group of disorders. In this review we will describe the use of mass spectrometry for the analysis of stored substrates. We will discuss progress in the field, limitations of current methods, and summarise issues relating to the diagnosis and treatment of some of the more prevalent lysosomal storage disorders.

Glycogen Storage Disease↗
PubMed2003

[Degenerative neurological diseases of the central nervous system related to genetic neurolipidoses].

Genetic neurometabolic diseases in childhood are multisystemic. Surprisingly, these genetic diseases can manifest for the first time during adolescence and adulthood. In this case, the clinical presentation and evolutivity are very different. In childhood, many neurological systems are touched and their evolution is rapidly lethal. In the adult, their presentation may be that of a degenerative disease of the central nervous system and, according to the disease, the syndrome is very particular and very systematized. From our clinical and biological experience, we would like to suggest a decision tree.

Adolescent↗
PubMed2004

Review: Glycosphingolipids in health and disease.

Glycosphingolipids are ubiquitous membrane constituents that are subdivided in neutral or acidic fractions (gangliosides and sulfatides). Their analysis requires extraction and separation by thin-layer chromatography or high-performance liquid chromatography. Ganglioside composition changes occur in response to variations in cellular morphology and function. Glycosphingolipids are implicated in the pathogenesis of various diseases, including glycosphingolipidoses, peripheral neuropathies caused by anti-ganglioside antibodies, and secretory diarrhea. Gangliosides play a role in the induction of apoptosis. For example, ceramide-induced apoptosis is associated with increased synthesis of a ganglioside, GD3. Gangliosides are also potential diagnostic markers and therapeutic targets for cancer.

Apoptosis↗