1/17. Morphological features in a neutral lipid storage disease.The morphological changes in a patient with a generalized storage disease characterized by the intracellular deposition of neutral lipid are described. There is widespread accumulation of lipid in the cytoplasm of many cells and in occasional nuclei. diagnosis may be facilitated by the recognition of clear vacuoles in the cytoplasm of granulocytes in blood films. In jejunal biopsies vacuolation of the epithelial cells may simulate the appearances of a-betalipoproteinaemia. The lipid inclusions consist largely of normal triglycerides and are free in the cytoplasm, unassociated with any organelle. The biochemical basis of the lesions is uncertain. Although there are lipoprotein abnormalities the primary defect appears to be intrinsic to the cell and may involve either a defective cytoplasmic lipase or an impaired uptake and utilization of fatty acids by mitochondria.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
2/17. Accumulation of sulfate-containing acid mucopolysaccharides in I-cell fibroblasts.A rapid and sensitive papper electrophoretic assay for 35SO4-containing compounds was developed which allowed measurement of 35S-acid mucopolysaccharides synthesized by skin fibroblasts grown in the presence of inorganic 35S-sulfate. fibroblasts from a skin explant of a patient with I-cell disease when grown in culture accumulated abnormal amounts of 35S-acid mucopolysaccharides and other, as yet unidentified, 35S-labeled compounds. Approximately 75% of the 35S-compounds accumulated by I-cell fibroblasts were not metabolized and remained in the cells after transfer to nonlabeled medium. I-cell fibroblasts differ from fibroblasts derived from classical mucopolysaccharidoses such as Hurler's and Hunter's syndromes in the amount and types of 35S-labeled acid mucopolysaccharides accumulated. I-cell fibroblasts accumulated chondroitin 4- and 6-sulfates (16 per cent), dermatan sulfate (32 per cent), heparan sulfate (32 per cent), and other unidentified 35S-compounds. The unidentified fraction was not hydrolyzed by microbial chondroitinase or heparinase. Attempts to correct the defect in I-cell fibroblasts by growth in the presence of extracts of normal cells resulted in release of only 10 per cent of the accumulated mucopolysaccharides. Under the same conditions, Hurler and Hunter fibroblasts lost over 90 per cent of accumulated mucopolysaccharides.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
3/17. Cytosome morphology and distribution of generalized ceroidlipofuscinosis in a twenty-eight month old boy with normal myeloperoxidase activity.A brain biopsy obtained from a twenty-eight month old boy with ceroidlipofuscinosis was studied by light and electron microscopy. There were widespread intracellular deposits of autofluorescent material taking the fat stains. Cytoplasmic inclusions were plentiful in neurons, astrocytes, oligocytes, M cells and vascular elements. Their substructure ranged from that of variably dense aggregates of essentially homogeneous or granular appearance to that of miscellaneous collections of lamellar pairs and/or tubular structures of variable length. Stacks of 2 to 4 linear profiles with a curved outline were rarely seen and then almost exclusively inside cytosomes of endothelial cells. Similar observations were made in peripheral nerve, skin and liver biopsies. The granules of peripheral blood neutrophilic leukocytes were unremarkable. A small percentage of lymphocytes contained granular cytoplasmic bodies not unlike those known to be an ordinary feature of some lymphocytes of the average blood sample. However, a certain resemblance between these bodies and some of the cytosomes seen in the patient's tissues was also apparent. Myeloperoxidase activity was tested with paraphenylenediamine and was found to be normal on two occasions. The patient's age, cytosome morphology and distribution and results of peroxidase assay add special interest to this case of generalized ceroidlipofuscinosis. However, none of these features, either singly or in combination, warrants creation of a distinct subtype within this group of disorders. Myeloperoxidase deficiency is probably just another phenotypical marker of some patients with generalized ceroidlipofuscinosis rather than the genetic defect of Batten disease.- - - - - - - - - - ranking = 1.8278449772841keywords = nerve (Clic here for more details about this article) |
4/17. Ultrastructural study of so-called curvilinear bodies and fingerprint structures in lymphocytes in late-infantile amaurotic idiocy.Peripheral lymphocytes of 6 patients with late-infantile amaurotic idiocy were examined with the electron microscope for the occurrence of curvilinear bodies and fingerprint structures. In 3 of the patients predominantly curvilinear bodies were found; in 1 case they contained some fingerprint profiles. In the remaining 3 patients curvilinear bodies were relatively scarce, whereas fingerprint structures prevailed. Moreover, pleomorphic bodies with rectilinear profiles and parallel tubular inclusion bodies were present. No lymphocytes with vacuoles were observed in any of the patients. The sural nerve biopsies of all patients revealed curvilinear bodies. This tissue consequently may be considered to give more reliable information in comparison with the lymphocyte. The likelihood of transition of one type inclusion body into another, the specificity of the curvilinear body and, to our mind, the rigid classification of the amaurotic idiocy into a curvilinear and a fingerprint type, are discussed.- - - - - - - - - - ranking = 1.8278449772841keywords = nerve (Clic here for more details about this article) |
5/17. Pigment variant of neuronal ceroid-lipofuscinosis (Kufs' disease).A case of pigment variant of Kufs' disease is presented. The nature of the extra-neuronal pigment is discussed. Despite some of the histochemical discrepancies that existed between this pigment and the material that had accumulated in the nerve cells, they seemed to be ultrastructurally related. The hepatocytes contained numerous heterogeneous cytosomes, some of which resembled the storage material of Niemann-Pick's disease. Clinically the syndrome may present with progressive ataxia, spontaneous and reflex, coarse myoclonic jerks and eventual mental deterioration as well as epilepsy and muscle wasting. The pigment variant cannot be distinguished from Kufs' disease except pathologically.- - - - - - - - - - ranking = 1.8278449772841keywords = nerve (Clic here for more details about this article) |
6/17. Fine structure of cutaneous nerves in ganglioside storage disease.skin punch biopsies of six children suffering from infantile or late onset tay-sachs disease, juvenile sandhoff disease, or GM gangliosidosis type I, contained axons which, when viewed with the electron microscope, were distended by large amorphous black deposits. These are nonspecific residual bodies. Their large numbers indicate severe disturbance of the nerve cell and may be part of the dying back process. The three cases with tay-sachs disease had also axonal zebra or complex membranous bodies which appeared to be specific. Cytoplasmic vacuolation of other cells was a feature in the patient with GM1 gangliosidosis. Biopsies of three parents were negative.- - - - - - - - - - ranking = 9.1392248864205keywords = nerve (Clic here for more details about this article) |
7/17. Histological observation of the brain of tay-sachs disease with seizure and chronic DPH intoxication--report of an autopsy case.The patients was a 3-year-old boy with psychomotor retardation and attacked by seizures since 8 months of age. On funduscopy, the maculla presented a cherry-red spot. serum hexosaminidase a activities were as low as 8.2 percent. Both parents were carriers. The patient was diagnosed as classical tay-sachs disease by neurological examination. Diphenylhydantoin was continuously given for 2 years and 2 months till his death. autopsy revealed swelling of the cerebrum, atrophy and sclerosis of the cerebellum, hepatomegaly and mild enlargement of the lymph nodes. Histologically, the cerebrum showed ballooned swelling of nerve cells, slight gliosis and demyelination, while cerebellar Purkinje's cells and granular cells were degenerated and disappeared. The cerebellar cortex showed small focal spongy degeneration. By electron microscopy, membranous cytoplasmic bodies were found in the nerve cells. The change of brain observed in this case were interpreted as a combined result of (i) essential change to classical tay-sachs disease, (ii) ischemic change due to frequently repeated seizures, (iii) chronic toxicity by long-term anticonvulsant administration.- - - - - - - - - - ranking = 3.6556899545682keywords = nerve (Clic here for more details about this article) |
8/17. Lipoid proteinosis.Lipoid proteinosis is a rare autosomal recessive disorder that can affect the majority of organ systems, but most frequently presents due to its characteristic skin and mucous membrane changes. This was illustrated in a 27-year-old patient. Because its manifestations are easily misinterpreted, one might reasonably assume that the incidence of lipoid proteinosis may be higher than previously reported.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
9/17. Lipoid proteinosis: ultrastructural and biochemical studies.Lipoid proteinosis, a rare autosomal recessive disease, is histologically characterized by deposition of hyalinlike material in the dermis. In this study the pathologic processes of lipoid proteinosis were evaluated by ultrastructural and biochemical analysis of skin and cultured fibroblasts from a patient with classic features of the disease. Transmission electron microscopy revealed the presence of hyalinlike material with a granular appearance interspersed between collagen fibers. Immediately surrounding the blood vessel walls, there was reduplication of basal laminae in an "onionskin" arrangement. The fibroblastic cells in the affected dermis contained peculiar cytoplasmic inclusions. Biochemical studies with the cultured fibroblasts showed that the total synthesis of extracellular matrix components, as detected by the synthesis of radioactive hydroxyproline or the incorporation of 35SO4(2-) and [3H]glucosamine into macromolecules, was not altered in lipoid proteinosis. However, the relative expression of type I and type III procollagen genes, as detected by molecular hybridizations with pro-alpha 1(I) and pro-alpha 1(III) procollagen complementary deoxyribonucleic acid probes, was markedly altered in cultured fibroblasts. Specifically, the type I procollagen messenger ribonucleic acid (mRNA) levels were significantly reduced, resulting in a decreased type I/III procollagen mRNA ratio. Furthermore, the replicative capacity of lipoid proteinosis fibroblasts, as detected by the incorporation of radioactive thymidine, was reduced. Thus the skin fibroblasts from lipoid proteinosis demonstrate ultrastructural changes, as well as alterations in their phenotypic characteristics, and these changes may have relevance to the pathologic processes of this systemic disease affecting the skin and other organs.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
10/17. Lipoid proteinosis: case report.Lipoid proteinosis is a rare autosomal recessive condition affecting the majority of organ systems, but predominantly involving skin and mucous membranes. The mucocutaneous infiltration due to accumulation of a hyaline material is positive for both sudanophil and periodic acid-Schiff reagents. This was illustrated in a 14-year-old girl with parental consanguinity, who had classic manifestations.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
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