Reversible choreoathetosis as the early onset of HIV-encephalopathy.
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AIDS Dementia Complex↗
Biomedical subjects
M G Passarin
Publications and source records attributed to M G Passarin.
Dystonia in a patient with deletion of 18p.
18p- syndrome from chromosomal deletion of the short arm of chromosome 18 shows a wide range of clinical manifestations. Mental retardation is the most frequent neurological complication; other neurological deficits are more rarely reported. Only one 18p- patient with focal dystonia at the lower limbs has been reported, while there have been no reported cases of generalized dystonia. We report a 27-year-old male with 18p- de novo complete deletion (karyotype 46,XY,18p-) who was affected by severe generalized dystonia, hypokinesia, mental retardation and dysmorphic features. The 18p- syndrome should be added to the list of genetic causes of secondary dystonia. A karyotype analysis should be considered in secondary dystonias, particularly when there are associated dysmorphic features and mental retardation.
Adult↗
Familial cavernous hemangioma with atypical neuroimaging.
Three members of the same family were studied, all of whom had multiple intracerebral cavernous angiomas for which a dominant autosomal inheritance was hypothesised. The proband suffered from headaches, and physical examination revealed evident right hemiparesis. The second case started with a hemorrhagic cerebral stroke and the third was asymptomatic on neurological examination. Nuclear magnetic resonance (NMR), performed in two of the three cases, showed lesions whose number and extent were not radiologically characteristic of cavernous angioma. A cerebral biopsy of the proband enabled the diagnosis to be made. Despite the recent introduction of NMR, the nosological classification of familial forms can be difficult when the radiological lesions are atypical. In such cases, cerebral biopsy is not only a valid diagnostic aid, but is also indispensable for obtaining adequate genetic information.
Brain↗
Cytoskeletal changes in cultured human fibroblasts following exposure to 2,5-hexanedione.
In the present study, the effects of the 2,5-hexanedione (HD) on the various cytoskeletal components of human eukaryotic cells were investigated. Primary cultures of human fibroblasts from three healthy donors were exposed to 2.8 mM HD for 14 days; unexposed cultures were used as controls. At different time intervals, cells were counted and the growth curves compared. After 14 days of treatment, the cultures were processed for immunoblotting, immunocytochemistry and ultrastructural studies. As compared to controls, morphological abnormalities induced by HD consisted of modification of the cell shape, formation of tangles composed by 10 nm filaments and cytoplasmic segregation of microtubules and membrane-bound organelles. By immunocytochemistry, the tangles of cytoplasmic filaments were stained by an antibody specific for vimentin. By immunoblotting, the anti-vimentin antibody recognized only bands of 50-60 kDa. Comparison of growth curves between treated and control fibroblasts clearly revealed an interference of HD with the cell cycle. The present results demonstrate that the cytotoxicity of HD is not restricted to intermediate filaments, but affects other cytoskeletal components, such as microtubules, as suggested by the impairment of cell division cycle.
Cell Count↗
Brain metastases from post-radiation malignant peripheral nerve sheath tumour.
A 45-year-old female patient developed a malignant peripheral nerve sheath tumour (MPNST) arising from the left brachial plexus, ten years after regional radiation treatment for Hodgkin's disease. The clinical course was characterized by local recurrence, pulmonary and cerebral metastases with endocranic hypertension syndrome, and the death of the patient 18 months after the onset of symptoms. The tumour presented a histopathological picture of schwannoma with a high grade of malignancy. A particular feature of this case was the exceptional occurrence of the early and massive invasion of the brain.
Brain Neoplasms↗
Cytoskeletal changes induced by 2,5-hexanedione on developing human neurons in vitro.
Dissociated dorsal root ganglion cells from human fetuses were exposed to 2,5-hexanedione (2,5-HD) for 2 weeks. Morphological changes induced by 2,5-HD consisted in focal neurofilament (NF)-containing enlargements preferentially located in distal, preterminal regions of unmyelinated fibers. Tangles of NF were also observed in the perikarya of nerve cells. Morphometric analysis disclosed that the cross-sectional areas of the 2,5-HD treated axons were 30% smaller than those of control axons. This alteration was associated with reduction of number of NF per unit area. These findings demonstrate that 2,5-HD treatment induces a generalized disorganization of neuronal and axonal NF responsible for focal enlargements as well as atrophic changes of unmyelinated fibers.
Axons↗