The authors have carried out a search for morphological markers for diagnosing, differential diagnosis and medico-genetic consulting of 4 forms of osteochondrodysplasias. The cells and the intercellular substance of the cartilaginous graft plate from the upper flaring portion of the ileum of the patients were investigated. A common feature of most conditions were changes on the part of the granular endoplasmatic net, which points at a disturbance in the function of the synthesis apparatus and/or of the transport of the synthesized biopolymers.
View Article and Find Full Text PDFCytochemical studies of the peripheral blood leucocytes in patients suffering from mucopolysaccharidoses (MPS) have revealed metachromatic granules in the cell cytoplasm. Electron microscopy of these cells has shown multiple cytoplasmic vacuoles. It is supposed that metachromatic granules in blood leucocytes of patients with MPS observed in the photo-optical studies correspond to the vacuoles found under electron microscope.
View Article and Find Full Text PDFUltrastructure of skin fibroblasts was studied in patients with mucopolysaccharidoses of types IV and VI and their relatives. In MPS VI and keratan-nonexcreting form of MPS IV the cytoplasm of fibroblasts contained numerous vacuoles with material of various electron density. The ultrastructure of cell did not differ from the norm in the keratan-excreting form of MPS IV.
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