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Biomedical subjects

F Pierelli

Publications and source records attributed to F Pierelli.

50 records · Page 3Linked to original sources

Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution.

Four cases (belonging to two different families) of Wolfram's syndrome (WS), a rare congenital disease characterized in its complete form by insulin-dependent diabetes mellitus, optic atrophy, diabetes insipidus, deafness, and dilation of the urinary tracts are presented, and a review of the literature is included. Three of four patients are characterized by HLA-DR2 haplotype, which is rare in IDDM. The neurodegenerative nature of some symptoms and the possible pathogenesis of diabetes mellitus connected with it are discussed.

Diabetes Mellitus, Type 1

[A case of central pontine myelinolysis: clinical and electrophysiologic findings].

We described a case of Central Pontine Myelinolysis, typical with regard to pathogenesis (excessive correction of hyponatremia), neuroanatomical damage revealed by imaging techniques (Magnetic Resonance Imaging) and clinical symptomatology. Serially performed BAEPs recordings during patient's hospitalization, showed interesting data on functional recovery which well correlate with the evolution of clinical symptomatology. These data strongly suggest the usefulness of such electrophysiological technique for a prognostic evaluation.

Brain Diseases

[Cluster headache: clinical and physiopathogenetic aspects].

The authors show the clinical characteristics of the cluster headache and consider the main physiopathogenetic hypothesis that could explain the polyhedric symptomatology of this kind of headache. They point out at first the hypothesis of an imbalance in the autonomic nervous system, sympathetic-parasympathetic, then they discuss about the theory of a disregulation of nociceptive system proposed by Sicuteri, at the end they hypothesize an alteration at the superior integrative level, probably the hypothalamic-limbic one.

Adult

Event-related potentials and autonomic functions.

The authors pointed out how some of the anatomic structures involved in the genesis of the event related potentials (ERPs) are also considered parts of the supranuclear regulation apparatus of the autonomic nervous system. Since there are evident functional similarities between some components of the ERPs and the orienting reflex--primitive form of attention--that is clearly associated with an autonomic activation, it could be interesting to evaluate the parameters of the ERPs in those experimental and clinical situations in which there is a functional involvement of the vegetative nervous system.

Autonomic Nervous System

Endogenous evoked potentials and vigilance levels variations.

The authors consider the possible relationship between the autonomic functions and the contingent Negative Variation (CNV). This relationship has been found both in psychopathological conditions and after the administration of psychotropic drugs. Some preliminary data are reported on the correlations observed between CNV and the autonomic activation (R-R interval) during a sodium lactate infusion.

Arousal

Electrophysiological (EEG, BAEP, VEP) study in patients with beta-thalassemia major.

Twenty-four patients affected by beta-thalassemia major were studied by means of combined EEG, VEP and BAEP recordings. All the subjects were treated with regular blood transfusions and chelating therapy (DFO). An elevated incidence of EEG abnormalities (70.8%) consisting of diffused slow waves and/or diffused small sharp spikes was seen. VEP P100 latency was abnormally prolonged in eight patients (33.3%). Furthermore, a voltage increase of N75-P100 (29%) and P100-N145 (33.3%) VEP components was observed. Mean latency and voltage values were significantly increased when compared with those of a control group. No BAEP alterations were observed. No correlations were found between electrophysiological data, serum ferritin levels and transfusional treatment duration. The possible mechanisms involved in provoking such electrophysiological abnormalities are discussed.

Adolescent

Electrophysiological study in patients with chronic hepatic insufficiency.

Twenty patients affected by chronic hepatic insufficiency were studied by means of combined EEG, VEP and BAEP recordings. Subjects were classified, according to Parsons-Smith criteria, in grade 0 (without any clinical sign) and grade I (with minimal mental disturbances). In group 0 patients an elevated incidence of VEP alterations (40%) was observed, while EEG and BAEP recordings were less frequently (10%) abnormal. In group I patients a high degree of EEG (60%), VEP (70%) and BAEP (70%) abnormalities was found. Mean latency and interpeak interval values in group I patients were significantly prolonged if compared with the grade 0 and control groups. No correlations were found between electrophysiological data and blood biochemical parameters examined (ammoniemia, aminoacidemic pattern).

Adult

Pattern visual evoked potentials in pseudotumor cerebri. A longitudinal study.

The prognosis of "benign" intracranial hypertension (Pseudotumor cerebri) is generally favorable. In fact, the resolution of the clinical picture is related to the disappearance of the increased intracranial pressure. However, sometimes an irreversible visual loss can occur. The authors studied, over a period of time, seven subjects suffering from pseudotumor cerebri utilizing pattern visual evoked potentials (VEPs). Five patients showed normal VEPs latencies that remained such in the successive controls. Two patients displayed pathological P100 VEPs latencies. Such findings tended towards a progressive transient improvement following decompressive lumbar puncture. The authors suggest that the VEPs alterations in these patients could be due to the association of general (increased CSF pressure) and local (malformations, scleral canalis constrictions) ocular factors. In these circumstances, the pattern VEPs recordings could be coupled with traditional methods of evaluation of visual pathway damage capable of provoking an irreversible compromission of the visual function.

Adolescent

Electrophysiological (BAEPs) changes in subacute sclerosing panencephalitis.

Over a period of time, the authors have studied a case of subacute sclerosing panencephalitis (SSPE), by means of brainstem auditory evoked potentials (BAEPs). The observed abnormalities of the conduction time along the early auditory pathways appeared to be related to the clinical picture; in fact, during periods of transitory clinical improvement these abnormalities were less evident. In addition, the encountered electrophysiological alterations consisted of a marked pathologic increase in the III-V interpeak latencies. The authors suggest that the BAEPs findings in their case could have been influenced by either unfavourable endogenous conditions (edema, electrolyte changes, etc.) or CNS segmental lesions due to focal viral distribution.

Adolescent

Pattern visual evoked potentials and brainstem auditory evoked responses in uremic patients.

With the improvement of dialysis therapy and subsequent increase in the average lifespan of uremic patients more interest has been directed towards neurological complications induced by chronic renal failure. Twelve uremic patients were selected on the basis of negative neurological and psychiatric examinations. Electroencephalogram, pattern visual evoked potentials (VEPs) and brainstem auditory evoked responses (BAERs) were recorded in all patients. Pathological latency increases of VEPs in six patients and of BAERs in three patients had been observed. These findings have been related by the authors to the action of toxic substances or to the presence of minimal demyelinating lesions of CNS. Since these pathological findings were observed in patients who were normal at the clinical examination, it has been suggested that the evoked potentials recording might be a sensitive index of initial early lesions of the CNS in uremic patients (Acta neurol. belg., 1982, 82, 72-79).

Adult