Biomedical subjects
Publications and source records attributed to F Baiocco.
We report on a favourable pregnancy in a woman affected by mut- methylmalonic acidaemia. Under vitamin B12 and carnitine therapy she remained symptom-free throughout pregnancy, labour, delivery and the postpartum period and gave birth to a term, healthy female newborn. At follow-up, the child shows normal somatic and neurocognitive development.
Auditory brainstem responses (ABR) have been obtained in 22 patients, 15 with familial and 7 with sporadic olivopontocerebellar atrophy; 8 of them were pairs of siblings. ABR abnormalities have been found in 72.7%, with a significant higher percentage in familial versus sporadic patients. Similar ABR patterns have been obtained in affected members of the same family. No correlations have been found between ABR results and the following parameters: age, gender, disease duration, degree of clinical involvement and fashion of inheritance. ABR pattern did not show any modification over a follow-up period of 15-24 months. Our findings suggest that the involvement of the auditory pathways may be under genetic control.
Brainstem auditory-evoked responses (BAER) and behavior audiometry were evaluated on 18 patients with Friedreich ataxia. Behavior audiometry showed a normal pure tone test, normal performance intensity and phonetically balanced functions in all patients. BAER were abnormal in all patients. The data obtained show a good correlation between BAER and clinical picture and suggest that BAER could be useful in monitoring the clinical condition of FA patients.
Two cases of hereditary motor sensory neuropathy type III (Déjérine-Sottas disease) examined by audiological, vestibular and electrophysiological methods are reported. In both cases there were signs of vestibular and acoustic central pathway involvement, shown by vestibular examination and by the study of auditory evoked potentials. The presence of central involvement in this hereditary neuropathy suggests central as well as peripheral myelin alteration.
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Spinal accessory nerve (SAN) function was evaluated by electromyography (EMG) and muscle testing in 36 patients who underwent neck dissection with SAN preservation. The results emphasized that SAN function was relatively good after conservative neck surgery. Muscle testing findings showed better function than did EMG findings. After surgery the trapezius muscle functioned more efficiently than the sternocleidomastoid (SCM) muscle probably because of the more traumatic surgical handling of both the SCM muscle and its SAN branch. In order to obtain the functional advantages of SAN preservation, the authors suggest that the conservative procedure in radical neck dissection be used whenever warranted by oncologic diagnosis.
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