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Article
The monocyte-macrophage system is affected in lysosomal storage diseases: an immunoelectron microscopic study
Studying peripheral blood mononuclear cells (PBMCs) has become an important diagnostic tool in lysosomal storage diseases. Previous studies revealed that B and subclasses of T lymphocytes participate in the s...
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Article
Friedreich’s ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient
The neuropathological findings in a Tunisian patient with Friedreich’s ataxia with vitamin E deficiency are reported. The main histological changes are: (1) spinal sensory system demyelination with neuronal a...
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Article
Glucocorticoid-sensitive hereditary inclusion body myositis
We report a hereditary muscle disorder with features of inclusion body myositis (IBM) in two adult sisters with slowly progressive asymmetrical muscle weakness. The findings of light microscopic and ultrastruc...
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Chapter and Conference Paper
Pathomorphology of hereditary sensory neuropathies
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 HS...
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Article
Amyloidoma of the gasserian ganglion as a cause of symptomatic neuralgia of the trigeminal nerve: Report of three cases
Three cases of symptomatic neuralgia of the trigeminal nerve due to an amyloidoma in the gasserian ganglion are described. The correct diagnosis was not made prior to histological examination of the surgical b...
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Article
Human ontogenesis
Naturally occurring muscle cell death in normal human fetal muscle was examined to determine the timing and structural differences with respect to muscle maturity. Two types of degenerative changes in developi...
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Article
Topographic heterogeneity of amyloid B-protein epitopes in brains with various forms of neuronal ceroid lipofuscinoses suggesting defective processing of amyloid precursor protein
To verify our hypothesis of defective protease inhibitor domains that are encoded by abnormal processing of amyloid precursor protein (APP) in brains of patients with neuronal ceroid lipofuscinoses (NCL), immu...
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Article
Tubuloreticular structures (TRS) and cylindric confronting cisternae (CCC) in childhood dermatomyositis
Tubuloreticular structure (TRS) and cylindric confronting cisternae (CCC) have been observed in circulating lymphocytes and in the muscle of six children with dermatomyositis. The presence of TRS was seen in a...
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Article
Magnetic resonance imaging in primary cerebral neuroblastoma
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Article
Ultrastructural pathology in emetine-induced myopathy
Progressive myopathy developed in two women who consumed ipecac syrup containing emetine hydrochloride to induce vomiting as part of their anorexia nervosa. Muscle biopsy specimens were characterized by severe...
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Article
Ultrastructural pathology of dermal axons and Schwann cells in lysosomal diseases
Skin tissue specimens, obtained from 60 patients afflicted with a diverse range of lysosomal disorders revealed two groups of lesions within dermal axons, largely unmyelinated ones, particularly within axonal ...
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Article
Traumatic fascicular neuroma
A 72-year-old man had developed amiodarone neuropathy. He was found, at biopsy, to have a fascicular neuroma of his right sural nerve, unassociated with his underlying neuropathy, apparently due to blunt traum...
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Article
Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase
A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in chronic malnutrition, muscle atrophy and polyneuropathy. Computer tomography revealed hypodensity of her cerebr...
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Article
Axonal pathology of the skin in infantile neuroaxonal dystrophy
Ultrastructural studies on the skin of two patients affected by infantile neuroaxonal dystrophy (INAD) were performed to evaluate its diagnostic value and to discuss the etiology of INAD. While the majority of...
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Article
Fresh cell therapy followed by fatal coma
A 60-year-old woman received a 3-day course of nine injections of “fresh” cells from fetal lamb ovary, placenta, brain (hypothalamus) and liver. There were no immediate complications, but a few days later she ...
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Article
Retinal ultrastructure of neuronal ceroid-lipofuscinosis in the Dalmatian dog
Ultrastructural studies of the retinae in two NCL-affected Dalmatian dogs revealed ubiquitous accumulation of lipopigments in numerous cell types of the retina, the fine structure of which closely resembled th...
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Article
Mitochondrial myopathy —A result of clofibrate/etofibrate treatment?
A 66-year-old man had developed a myopathy while undergoing several periods of etofibrate and clofibrate therapy over the past 5 years. Discontinuation of etofibrate treatment failed to reverse his muscle illn...
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Article
Ultrastructure of the arthus phenomenon in muscle
Specific blood-tissue barrier alterations were observed in a 2-year-old boy with a myopathic lesion in his muscle. Close by, degenerative changes were present in muscle fibers, three types of vascular abnormal...
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Article
The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein
Cytoplasmic bodies found in a muscle biopsy from a 14-year-old girl afflicted with a lifelong congenital myopathy reveal an electron-dense core surrounded by 7–10 nm filaments. Ty** of the kind of intermedia...
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Article
Rigid spine syndrome in a girl
A 15-year-old girl had a lifelong history of moderate proximal muscle weakness, progressively impaired mobility of her spine and limited extension of her elbow joints, compatible with the rigid spine syndrome....