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Biomedical subjects

E Faccio

Publications and source records attributed to E Faccio.

8 recordsLinked to original sources
PubMed1998

Akinetic mutism: a report of three cases.

OBJECTIVES: To report 3 new cases of akinetic mutism, a clinical syndrome defined by silent immobility with preserved visual alertness not accountable by lesion of the areas and/or effector pathways of speech and voluntary movements. MATERIAL AND METHODS: Anatomopathological studies were performed in Cases 1 and 2; clinical follow-up, EEG, angiography and CT scans in Case 3. RESULTS: Case 1: Bipallidal necrosis; Case 2: Left pallidal necrosis with right frontoparietal cortico-subcortical infarction; Case 3: Striato-capsular infarction on the left side, involving the caudate nucleus and the anterior arm of the internal capsule, together with obstructive hydrocephalus. CONCLUSION: The roles of both globus pallidus and prefrontostriatal circuits in the onset of voluntary movements are discussed.

Adult↗
PubMed1995

Early onset Alzheimer's disease in a South American pedigree from Argentina.

We report the clinical, SPET, immunohistochemical and DNA features of an early-onset familial Alzheimer's disease (FAD) in an Argentine pedigree of South American indian ethnic background. Pedigree spans 5 generations comprising more than 110 biological relatives. Clinical data supported the diagnosis of early onset FAD (mean age at onset 38.9 years) in 10 family members, including 3 with pathological confirmation (mean age at death 48.5). The pattern of transmission suggested autosomal dominant inheritance. Prominent features were mood changes, early language impairment, myoclonus, seizures and cerebellar signs. SPET displayed bilateral frontal, temporo-parietal and cerebellar hypoperfusion in early stages and in an asymptomatic member at risk, suggesting that SPET may have predictive value in this family. Immunohistochemistry showed beta amyloid deposits within neuritic plaques and vessel walls and no anti-PrP immunoreactivity. DNA analysis showed no abnormalities in the beta amyloid precursor protein gene. The identification of additional genetic defects in well characterized independent FAD pedigrees will contribute to the understanding of the pathogenesis of Alzheimer's disease.

Adult↗
PubMed1982

Autonomic neuropathy in the skin: a histological study of the sympathetic nerve fibres in diabetic anhidrosis.

In diabetics with the anhidrotic syndrome, autonomic nerve fibres were studied in skin biopsies using argentic techniques and light microscopy. The Minor test was used to differentiate normal from anhidrotic skin areas. In the anhidrotic areas, histology of the nerve fibres showed beading, spindle-shaped thickening and fragmentation adjacent to the sweat glands. These changes were similar to those observed in two patients who had previously undergone lumbar sympathectomy. No abnormalities of the sympathetic nerve endings could be found in biopsies taken from normal areas of the forearm of the same patients. We conclude that the diabetic anhidrotic syndrome, a form of diabetic autonomic neuropathy, is due to a lesion of the sympathetic nerve supply to the skin. It is suggested that the Minor test or a skin biopsy should be performed in diabetic patients who are being considered for surgical sympathectomy.

Adrenergic Fibers↗
PubMed1979

Prenylamine. Autoradiographic and neuropathological studies on myocardial mechanisms of action.

Myocardial localization of prenylamine (PNL), a well known antianginal drug, was studied by means of an autoradiographic technique to detect microscopical distribution of tritiated PNL (3H-PLN). Forty Wistar rats received 35 muCi/kg b. w. 3H-PNL i. p., the animals being killed 30 min after injection. Heart slices, 1 mm thick, were processed for both autoradiographic and conventional histological techniques. 3H-PNL was observed, mainly, as striae along sarcolemma; sarcolemmal/intramyocardial 3H-PNL distribution ratio was 6 : 1. Preferential membrane deposition of 3H-PNL is probably related to the calcium transport inhibiting action of the drug, previously described.

Animals↗
PubMed1977

Autonomic neuropathy and painless myocardial infarction in diabetic patients. Histologic evidence of their relationship.

Myocardial infarction is considered the prime cause of death among adult diabetic patients. In a great number of cases, during myocardial infarction the patients don't feel pain or it is atypical. Diagnosis can be neglected, and mortality increases. In search of an explanation for the absence of pain in these patients, the authors studied the autonomic nerve fibers of the heart muscle with argentic and combined techniques, looking for lesions in the sympathetic or parasympathetic nerve fibers that conduct pain. In the five cases of painless myocardial infarction studied, the nerve fibers showed typical lesions of diabetic neuropathy: beaded thickenings, spindle-shaped thickenings, fragmentation of fibers, and diminution of the number of fibers in the nerves. The patients in the control group (five diabetics with painful infarction, five diabetics with infarction, five nondiabetics with painful infarction, and five nondiabetics without infarction) had no lesions. These facts led us to assume that the absence of pain in diabetics with myocardial infarction could be due to a lesion of the afferent nerves that conduct pain.

Adult↗