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Biomedical subjects

E Bottacchi

Publications and source records attributed to E Bottacchi.

48 records · Page 3Linked to original sources
PubMed1980

Friedreich's ataxia II. Biochemical studies in cultured cells.

Pyruvate and palmitate oxidations by cultured fibroblast suspensions were measured in optimized conditions and proved to be within normal range in the cells from Friedreich's patients. But when pyruvate oxidation was measured by direct assay of the pyruvate dehydrogenase complex, this enzyme activity proved to be significantly lower in Friedreich's than in controls' cells. These abnormalities were not observed when the cells were sonicated. Moreover, lipoamide dehydrogenase activity Km and Vmax were within the normal range in Friedreich's cells. These data suggest that the low activities of the PDH complex are not a primary defect in Friedreich's ataxia but are more likely to be related to membrane abnormalities in Friedreich's cells.

Adolescent↗
PubMedDate not supplied

Carbamazepine does not affect short-latency somatosensory evoked potentials: a longitudinal study in newly diagnosed epilepsy.

Somatosensory evoked potentials from median nerve stimulation were recorded in 12 patients with newly diagnosed epilepsy, before and after 1 year of treatment with carbamazepine. The plasma concentrations of the drug were consistently within therapeutic range. We assessed the latencies of the early components at the level of the cervical spine (N9 and N13) and on the parietal scalp (P14, N20, P25) and the interpeak latencies (N9-N13, N13-N20, P14-N20). None of the patients presented anomalies in any of the parameters, and there was no significant difference between the patient and control means or between the patient means before and after 1 year of treatment.

Adolescent↗
PubMedDate not supplied

[The diagnostic course in patients with hereditary ataxias and hereditary spastic paraparesis].

A postal questionnaire was sent to all patients affected by hereditary ataxias and hereditary spastic paraparesis resident in the province of Turin (Italy) to study their diagnostic process. A 61% response rate was obtained. The mean time interval between onset and diagnosis was 6 years (1 to 32 years). The percentage of late diagnoses dropped from 59% before 1959 to 19% after 1970, mostly because a reduction of the interval between symptom onset and the first contact with the general practitioner. The onset with dysarthria and ataxia led to earlier neurologic consultation, but the whole time requested for the diagnosis was not modified. A reduction of the time needed for the diagnostic process may be important to address the family to an early genetic counselling.

Age Factors↗
PubMedDate not supplied

Parasympathetic function in Huntington's disease.

Parasympathetic function in 7 Huntington's chorea patients with a duration of the disease ranging from 1 to 20 years, was evaluated by studying R-R intervals during quiet and deep breathing and Valsalva manoeuvre. All 7 patients were free of neuropathy, orthostatic hypotension, heart or lung disease and had had no medication for at least 15 days prior to hospitalization. Seven normal subjects served as controls. On the whole, the responses of the Huntington's chorea patients were not significantly different from those of the controls. Abnormal responses to all the tests were received in only one patient and a low R-R variability during deep breathing in the youngest patients. Unlike other Central Nervous System degenerative disorders, in Huntington's disease parasympathetic autonomy seems to be sufficiently preserved.

Adult↗
PubMedDate not supplied

Somatosensory evoked potentials and peripheral nerve conduction velocities in patients on long-term carbamazepine therapy.

The motor and sensory conduction velocities were measured, and the somatosensory evoked potentials were recorded on median nerve stimulation in 20 epileptics on long-term carbamazepine therapy. The plasma drug levels were monitored and found to be consistently within therapeutic range. The electrophysiological study showed that the motor and sensory conduction velocities in the lower limbs were significantly lower than in age-and sex-matched controls, while no significant variation was found in the somato-sensory evoked potentials. There was no correlation between the neurophysiological data and any of the pharmacological data, such as duration of treatment, plasma levels and dose of drug per Kg of bodyweight per day.

Adolescent↗
PubMedDate not supplied

[Evoked potentials in 3 cases of dystrophia myotonica with neuropathic variant].

3 patients with Myotonic Dystrophy (MD) and associated leg motor neuropathy, confirmed in two of them by biopsy of one branch of lateral popliteal nerve, were studied with Multimodality Evoked Potentials. Abnormalities of VEPs and BAEPs, in agreement with literature, were found in all patients. Median SEP peripheral conduction velocity, N9-N13 and N13-N20 conduction time were normal. On the contrary, all patients showed reduced lower limb SEP peripheral conduction velocity niloutstanding normal nerve biopsy. These results suggest in MD neurological abnormalities occur outside muscular system, too.

Adult↗