Search results for "Neuropathologist"

showing 2 items of 2 documents

Diagnostic morphology of human eye-related storage disorders

1989

While retina and other ocular tissues are involved clinically and morphologically in a variety of lysosomal disorders, it is only the conjunctiva that is accessible by biopsy to morphological, i.e., electron microscopic recognition of the patient's individual lysosomal disease. However, this procedure is not utilized by many. Instead, skin and circulating lymphocytes are the most frequently obtained tissues for diagnostic investigation, as skin contains an abundance of diversified cell types for morphological examination and simultaneously fibroblasts to be cultured for biochemical investigation. It is the tissue most suitable for identifying lysosomal disorders and parallels in diagnostic …

Cell typePathologymedicine.medical_specialtyConjunctivaEye DiseasesDiseaseBiologyRetinaBiopsymedicineHumansPeripheral NervesElectron microscopicGenetics (clinical)SkinRetinaBlood Cellsmedicine.diagnostic_testMusclesNeuropathologistBrainSkeletal muscleOphthalmologymedicine.anatomical_structureLiverPediatrics Perinatology and Child HealthKidney DiseasesMetabolism Inborn ErrorsOphthalmic Paediatrics and Genetics
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Pathomorphology of hereditary sensory neuropathies

1995

Currently, the hereditary sensory neuropathies (HSN) — because of the involvement of the autonomic system recently called HSAN — comprise types I–V predicated on clinical differences. This classification of HSAN I–V seems to be uncontested, at the present time. Morphologically, individual forms I–V only differ in the non-specific loss or lack of myelinated and unmyelinated nerves in varying degrees in that in HSAN II large myelinated axons are most affected, in HSAN IV unmyelinated axons are almost absent; but each HSAN is considered an axonal type of neuropathy. Early onset, slow or no progression of the neuropathic process, and little or no evidence of ongoing degeneration suggest maldeve…

medicine.anatomical_structureHereditary Sensory Neuropathiesbusiness.industryMaldevelopmentPeripheral nervous systemNeuropathologistMedicineSural nerveSensory systembusinessNeuroscienceCombined approachEarly onset
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