[Tomodensitometry and involvement of the optic system].
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Biomedical subjects
Publications and source records attributed to P Danis.
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Three cases of pinguecula (conjunctival elastosis) were ultrastructurally investigated. Findings were compared with the features described in cutaneous actinic elastosis. Changes observed were not uniform. In both diseases, numerous elastotoc fibers were present with a finely granular matrix and masses of dense grains. The degenerative changes of the elastotic fibers evolved differently in conjunctival stroma and in dermis. The superficial extracellular concretions observed in pinguecula seemed to be an ultimate stage of elastotic degeneration. Like actinic elastosis and elastosis observed in chronic radiodermatitis, pinguecula is believed to result from a dystrophic increased elastogenesis induced by chronic irradiation, with secondary degenerative changes.
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The occurrence of independent brain tumors in two patients with retinoblastoma is described. One patient with well-differentiated biliteral retinoblastomas developed, over two years later, a pineal tumor but no other metastatic lesions. The pineal tumor was composed of small neuroblastic cells and a second population of larger cells with vesicular nuclei and more abundant cytoplasm. This feature is not characteristic of either primary or metastatic retinoblastoma. In the second patient the symptoms of a brain tumor led to the discovery of a small uniocular, well-differentiated retinoblastoma. The brain tumor was retrochiasmal, highly differentiated (showing areas of photoreceptor differentiation), and interpreted as an ectopic nonmetastatic retinoblastoma. The possible histogenetic origins of the brain tumors are discussed. Patients who develop symptoms of a brain tumor after a prolonged interval since the treatment of their ocular tumors should be suspected of harboring a second intracranial primary.
The general pathological and ocular studies in an aborted fetus with type II glycogenosis revealed the widespread lysosomal storage of glycogen. Obvious lesions are observed in the viscera, in the skeletal and ocular muscles, and in all ocular tissues except the pigment epithelium of the retina. Brain and heart are relatively spared. Conjunctival and skin biopsies have a diagnostic importance, since specific alterations are evident early in the course of the disease.
Histological studies of the eyes of three children affected with ceroid-lipofuscinosis show severe retinal destruction and generalized cellular overloading with ceroid-lipofuscin pigments. Conjunctival biopsies in eight patients distributed among the four different classical phenotypes of the disease demonstrate the diagnostic value of this simple and safe procedure.
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Electron microscopic examination of the conjunctive of four children affected with Niemann-Pick's disease revealed a widespread storage process. The epithelium, the connective tissue cells, the endothelial cells and the pericytes of the capillaries are filled with lysosomal inclusions with pleomorphic structure. The nerve fibres show destructive process of the myelin sheaths and accumulation of lipid material in the Schwann cells. The extension of the lesions is similar, as shown by morphologic and morphometric analysis in early and terminal stages of the diseases. Conjunctival biopsy allows an early and secure diagnosis of Niemann-Pick's disease, and should be performed when the clinical symptoms suggest a lysosomal disorder.
Pathological ocular study of a boy presenting Menkes disease and died at age 5 months showed rarefaction of outer nuclear layer and degenerative visual cells' outer segments in macular area.