Biomedical subjects

P Tonali

Publications and source records attributed to P Tonali.

At least 19 recordsLinked to original sources

PubMed1992

Effects of surgical treatment in thymoma with myasthenia gravis: our experience in 103 patients.

A retrospective study of 103 thymectomies examines the effects of the integration of surgical and medical therapy in patients affected by myasthenia gravis accompanied by thymoma. An extended thymectomy via a median longitudinal sternotomy was used in 102 patients. The operative mortality was 4.85% (5/103 patients), the 10-year survival rate was 78% with a recurrence rate of 3.06% (3/98). Neoplastic infiltration and postoperative radiotherapy did not influence the survival rate. There was no correlation between a preoperative Osserman's class better than III and postoperative outcome. The improvement of medical treatment, and anaesthesiological and intensive care techniques resulted in a decrease of the operative mortality and long-term death rate during the last 10 years of our 20-year series. Extended thymectomy via sternotomy is the best intervention in patients with myasthenia gravis associated with thymoma judged by the low operative mortality and the favorable 10-year survival rates.

Adolescent↗

PubMed1992

Postural axial tremor in a patient with cerebellar atrophy.

A patient affected by low-frequency postural tremor of the trunk and limbs is reported. Apart from mild dysarthria and gait ataxia, no other neurological abnormalities were present. Cerebellar atrophy was demonstrated by means of magnetic resonance imaging. The tremor was associated with alternating activity in antagonistic muscles; it was triggered whenever a contraction of lumbar back extensor muscles occurred. Electrical stimulation of the cerebellum did not produce the normal suppression phases of motor responses evoked by a magnetic stimulation of the cerebral cortex.

Aged↗

PubMed1992

Giant axonal neuropathy: report on a case with focal fiber loss.

We report on a 5 1/2 year-old boy with chronic progressive polyneuropathy, ataxia, and pyramidal signs. His hair was not curled. Sural nerve biopsy disclosed many axons enlarged by accumulation of 10-nm neurofilaments and a marked variability in the number of myelinated fibers as well as in the amount of axonal enlargements among different fascicles. These findings and the electrophysiological data were consistent with a giant axonal polyneuropathy with a multifocal fiber loss.

Axons↗

PubMed1992

Cisplatin neuropathy: clinical course and neurophysiological findings.

Sixteen patients treated with cisplatin (CDDP) 40 mg/m2 on days 1-5 every 4 weeks for three courses (cumulative dose 600 mg/m2) were clinically and neurophysiologically tested before, during and 1, 3, 6, 9 and 12 months after CDDP administration. The first symptoms of polyneuropathy occurred in 4 of 9 patients after the second course (cumulative dose 400 mg/m2). One month after treatment 1 of 9 patients was asymptomatic, 5 complained of symptoms and 3 showed clinical and neurophysiological signs of polyneuropathy. Three months after CDDP all patients were affected. Clinical and neurophysiological signs of severity progression were noted up to 6 months after treatment with CDDP.

Action Potentials↗

PubMed1992

Acute axonal idiopathic polyneuropathy: a Guillain-Barré syndrome variant?

We report 7 cases of acute polyneuropathy fitting the NINDS diagnostic criteria for GBS. Electrophysiological study and sural nerve biopsy revealed a picture of axonal polyneuropathy, without changes suggesting demyelination. We discuss whether the acute idiopathic axonal neuropathy belongs to the GBS spectrum or represents a separate clinico-pathological entity.

Adult↗

PubMed1992

Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle.

A sporadic case (female, aged 14 years) is reported who was affected by myopathy, restrictive cardiomyopathy and sensory motor polyneuropathy. A muscle biopsy showed accumulation of osmiophilic granular and filamentous material on electron microscopy, which stained positively in immunofluorescence for desmin. Increased desmin phosphorylated isoforms have been demonstrated by one- and two-dimensional electrophoresis. Sural nerve biopsy showed a peripheral neuropathy with giant axons, filled with closely packed neurofilaments. Clinical and morphological aspects of this new disease entity are discussed with regards to the classical form of giant axonal neuropathy and to other conditions of peripheral neuropathy with giant axons.

Adolescent↗

PubMed1992

Somatosensory and motor evoked potentials in the assessment of cerebrotendinous xanthomatosis before and after treatment with chenodeoxycholic acid: a preliminary study.

We studied two unrelated patients with cerebrotendinous xanthomatosis, in whom clinical examination revealed central nervous system long tract involvement. Brain and spinal cord magnetic resonance imaging showed no signs supporting the involvement of the long pathways. Somatosensory and motor evoked potentials demonstrated central sensory and motor conduction abnormalities, which suggested distal degeneration of longer fibers, rather than scattered focal lesions in the CNS. In one of the patients the neurophysiological study was repeated 6 and 12 months after the beginning of treatment with chenodeoxycholic acid, showing a progressive improvement. Therefore, our data suggest that central motor and sensory conduction studies may be useful in the assessment of the disease and in monitoring treatment.

Adult↗

PubMed1992

The contribution of magnetic stimulation of the motor cortex to the diagnosis of cervical spondylotic myelopathy. Correlation of central motor conduction to distal and proximal upper limb muscles with clinical and MRI findings.

Magnetic stimulation of the motor cortex and cervical spine was performed on 24 patients with cervical spondylotic myelopathy documented by MRI. Compound motor action potentials (CMAPs) were recorded from the biceps and thenar muscles to study the central motor pathways of two different myotomes, C5-C6 and C8-D1. Central motor conduction was abnormal in all 24 patients for thenar muscles and in 5 patients for biceps brachii. In patients with a single compression level, central motor conduction abnormalities were confined to the myotomes caudal to the site of compression documented by MRI, in both proximal and distal upper limb muscles in the patients with upper spondylotic compression, and in distal muscles only in the patients with lower compression. In the patients with multilevel compression, central motor conduction time was abnormal for thenar muscles and always normal for the biceps muscle, but its mean value was significantly greater than in the control subjects, suggesting a slight involvement of central motor pathways for proximal upper limb muscles and major damage of the lower cervical segments. Owing to their high degree of sensitivity, central motor conduction studies may be of considerable value in the functional assessment of central motor pathways in cervical spondylotic myelopathy.

Action Potentials↗

PubMed1992

Benign monomelic amyotrophy of lower limb: report of three cases.

Three patients with wasting confined to a single lower limb are reported. The characteristic features were: sporadic occurrence, insidious onset with slow progression and in 2 cases arrested course for at least 4 years, wasting out of proportion with disability, absence of sensory, pyramidal tract or bulbar signs. CK, motor and sensory conductions, and lumbar MRI were normal. Muscle CT showed selective loss of muscle tissue and fat replacement in posterior leg muscles. Quantitative electromyography and histologic findings revealed neurogenic features not only in the affected legs, but also in clinically uninvolved limbs. Monomelic amyotrophy of lower limb is a variant of spinal muscular atrophy with a benign course. However, as in the early stages of the disease there are no distinctive clinical or laboratory findings with other motor neuron diseases, the diagnosis of monomelic amyotrophy may be made only retrospectively after a prolonged observation.

Adult↗

PubMed1992

Disorders associated with depletion of mitochondrial DNA.

Quantitative defects of mtDNA have been recently described in patients with fatal mitochondrial disease of early infancy or mitochondrial myopathy of childhood. There was variable tissue expression and depletion of up to 98% of mtDNA in affected tissues. Pedigree analysis was compatible with mendelian inheritance, suggesting faulty communication between nuclear and mitochondrial genomes, but the primary molecular lesion is unknown. In muscle, morphological studies allowed to correlate mtDNA depletion, absence of mtDNA-encoded peptides, mitochondrial proliferation, and loss of cytochrome c oxidase (COX) activity in individual fibers.

Acquired Immunodeficiency Syndrome↗

PubMed1992

Long-term results of corticosteroid therapy in patients with myasthenia gravis.

We studied the long-term outcome of prednisone therapy in 104 patients with myasthenia gravis (MG). At the end of the follow-up period, good therapeutic results were recorded in 85 patients (81.7%), poor results in 13 (12.5%) and no significant change of MG status in 6 (5.8%). We found a correlation between the duration of treatment and the incidence of steroid side effects. The presence of thymoma and severe forms of MG were associated with relapsing disease requiring prolonged corticosteroid regimens. The age at the start of therapy did not influence significantly the response to treatment.

Adult↗

PubMed1992

Botulinum toxin as a treatment for blepharospasm, spasmodic torticollis and hemifacial spasm.

Fifty-two patients affected by focal dystonia or hemifacial spasm were treated with repeated injections of botulinum toxin. A clinical improvement was observed in all patients with blepharospasm; clinical benefit had a mean duration of 10 weeks. Clinical results were less impressive, but also favorable in patients affected by spasmodic torticollis and by hemifacial spasm. In the latter, the incidence of drug-induced paresis was much higher than that observed in patients with blepharospasm, even though the doses of toxin injected were significantly lower.

Adult↗

PubMed1992

Segmental dysfunction of the cervical cord revealed by abnormalities of the spinal N13 potential in cervical spondylotic myelopathy.

We studied somatosensory potentials (SEPs) evoked by stimulation of radial, median, and ulnar nerves in 11 patients with MRI evidence of cervical spondylosis. All patients presented with progressive spastic paraparesis that was either isolated or associated with lower motor neuron signs in the upper limbs, with preserved joint, touch, pain, and temperature sensations in the four limbs. In all patients, scalp SEPs reflecting the activity of the dorsal column system up to the parietal cortex were normal while segmental cervical cord dysfunction was manifested by an abnormal spinal N13 potential in 95% of radial, 90% of median, and 54% of ulnar nerve SEPs. These subclinical abnormalities of the spinal N13 SEP probably result from reduced blood supply due to compression of the anterior spinal artery in patients with cervical spondylotic myelopathy.

Adult↗

PubMed1991

The epidemiology of inflammatory polyradiculoneuropathy. A critical review of the distribution, characteristics and outcome of the disease. Plasmapheresis Study Group.

An outline of the principal reports dealing with the definition, distribution, course and treatment of the inflammatory polyradiculoneuropathies, including the Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP), is given. Current diagnostic criteria for GBS are reaffirmed while the diagnosis of CIDP lacks proper standardization. Then, the boundaries between the two disorders are ill-defined. While GBS is rare and homogeneously distributed across developed and developing countries, the prevalence rate of CIDP is unknown. Several antecedent events have been implicated in the pathogenesis of GBS; yet, except for the swine-flu vaccine, the relation between infectious or toxic agents and the occurrence of the disease is purely anecdotal. The only factors known to influence the outcome of GBS are age, severity of opening symptoms, abnormal electrophysiologic characteristics of peripheral nerve function, and plasmapheresis. However, responders and non-responders to current treatment are far from defined. Although similarities have been found between experimental allergic neuritis and experimental allergic encephalomyelitis, the degree of CNS impairment in patients with inflammatory polyradiculoneuropathies needs further refinement. To provide a tentative answer to some of the unsolved questions on inflammatory polyradiculoneuropathies, a multicenter cohort study on newly diagnosed patients submitted to standard clinical and laboratory evaluation, and given common therapeutic regimes, is awaited.

Central Nervous System↗

PubMed1991

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies.

We studied a large family with a dominantly inherited mitochondrial myopathy characterized by progressive external ophthalmoplegia, dysphagia, cataract, lactic acidosis, exercise intolerance, and early death. Morphologic studies of muscle biopsies suggested mitochondrial heteroplasmy and revealed ragged-red fibers and decreased histochemical reactions for cytochrome c oxidase and succinate dehydrogenase. Biochemistry showed a partial defect of cytochrome c oxidase and a mild generalized reduction of other mitochondrial enzymes requiring mitochondrial DNA-encoded subunits. Southern blot analysis and PCR amplification showed mitochondrial DNA deletions in muscle of all affected members, but not in lymphocytes or fibroblasts, suggesting a tissue-specific distribution. Deletions were multiple and seemed to increase with time and to correlate with the severity of the disease.

Adult↗

PubMed1990

A multicentre follow-up study of 1152 patients with myasthenia gravis in Italy.

A multicentre retrospective study was carried out on the characteristics and course of myasthenia gravis (MG) in Italy. Data from 1152 patients, fairly representative of the myasthenic population seeking medical advice, were analysed for diagnostic criteria, clinical aspects and therapeutic approaches. Mean follow-up was 4.9 years. The disease was correctly diagnosed within 2 years of the onset in 80% of cases. Onset of symptoms peaked in the second and third decade in females and fell between 20 and 59 years in males. At first observation 87% of the patients had generalized MG. Maximal worsening was observed within 3 years in 77% of patients. At the last follow-up, 35% of cases were symptom-free (pharmacological remission 24%, remission without treatment 11%). The more severe the disease at the first observation and at the maximal worsening of symptoms, the lower was the proportion of remissions. Steroids were given in 54% and immunosuppressants in 18%. Thymectomy was performed in 72%, mostly in women, younger than age 40, and with generalized MG. Thymectomy seemed to improve the course of the disease, mostly in patients operated on shortly after diagnosis and those with generalized mild-to-moderate disease and with a normally involuted thymus. MG was lethal in 4% of patients, principally men, older than 40, in grade 3 or worse at first observation, with a short history of disease, and with thymona.

Adolescent↗

PubMed1990

Early-onset myasthenia gravis: clinical characteristics and response to therapy.

We studied 59 children with myasthenia gravis (MG). Disease onset was pre-pubertal in 26 patients and post-pubertal in 33. The male to female ratio was 0.62 in the early- and 0.17 in the late-onset groups. The frequency of ocular MG was higher in patients with prepubertal onset. Patients with generalized MG generally showed a good response to thymectomy and corticosteroid therapy proved effective with no major side-effects. In our experience early-onset MG has the same course as in adult life. We recommend thymectomy for generalized disease in childhood, except in very young children on account of possible long-term effects on immunological development. Immunosuppressive therapy should be considered in severely affected patients who do not respond adequately to other therapies.

Adolescent↗

PubMed1990

Somatosensory evoked potentials in a case of neurosyphilis.

Here we report median and common peroneal nerve SEPs in a patient with tabes dorsalis. SEPs were within normal limits following median nerve stimulation, but of prolonged latency for common peroneal nerve. This was in keeping with clinical findings of posterior column involvement confined to the lumbosacral tract and with pathological features of tabetic neurosyphilis.

Adult↗