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Biomedical subjects

D A Restivo

Publications and source records attributed to D A Restivo.

18 recordsLinked to original sources
PubMed2002

Improvement of diabetic autonomic gustatory sweating by botulinum toxin type A.

Fourteen diabetic subjects with gustatory sweating were treated by intracutaneous injections of botulinum toxin type A into the affected facial skin areas. In all subjects, sweating (measured by Minor starch iodine test) ceased within 4 days, with the maximal follow-up time lasting 24 weeks. This therapeutic approach, which could be used to reduce the severity of diabetic gustatory sweating, appears to be long lasting, adverse effect free, and minimally invasive.

Aged↗
PubMed2000

Involvement of the noradrenergic system in modulating the blink reflex in humans.

Several researches have shown that the spinal reflex transmission in animals, as well as humans, was inhibited by alpha(2)-agonists, due to a disfacilitation of tonic noradrenergic control on motoneuronal output. To understand better the mechanisms regulating certain aspects of motor activity, here we reinvestigated the possible role of noradrenergic systems in modulating reflex activity of the brainstem in humans. To this aim, blink reflex responses (R1 and R2) evoked by electrical stimulation of the supraorbital nerve were electromyographically recorded in healthy volunteers. Both R1 and R2 areas were measured at 10-min intervals before and after i.v. injection of alpha(2)-agonist clonidine (0.5 microg/kg). The substance induced consistent depression of R1, which reached its maximum 40 min after drug administration (-43% of the control values). Ipsilateral R2 area resulted little affected by clonidine (-15% at 50 min), whereas no effects were observed in contralateral R2. Blood pressure values were never altered by drug injections. These results, taken together with previous observations, support the hypothesis that alpha(2)-agonist substances may cause a transient inactivation of noradrenergic neurons, thus releasing neurons involved in the circuitry of the blink reflex from a facilitatory drive. Since clonidine differentially modulated blink reflex responses, it is likely to assume that such a disfacilitation concerns mostly pontine units mediating the R1. However, the complexity of clonidine's effects at multiple pre- and postsynaptic sites does not allow us to exclude that other systems are involved in the alpha(2)-mediated control of facial motoneurons.

Adult↗
PubMed2000

Deafness: an unusual onset of genetic Creutzfeldt-Jakob disease.

We describe a case of genetic Creutzfeldt-Jakob disease (CJD) with deafness at the onset. We report clinical features, 14-3-3 protein positivity, electroencephalography and brain stem auditory evoked potential abnormalities, and high signal on magnetic resonance imaging in basal ganglia and temporal cortex. Similarities with CJD Heidenhain variant are discussed.

14-3-3 Proteins↗
PubMed2000

Diabetes insipidus in neurobrucellosis.

Brucellosis is an infection due to Brucella species and is characterized by acute febrile illness, chilly sensations, sweats, weakness, generalized malaise, body aches and headache. The involvement of the nervous system is rare. A few cases have been reported with symptoms and sign of optic neuritis, meningoencephalitis, meningomyelitis and cranial nerve palsy. We report a case with culture proven neurobrucellosis who presented with diabetes insipidus along with systemic signs. Neuroimaging revealed multiple lesions in brain parenchyma, including the suprasellar region. Both diabetes and suprasellar lesions improved markedly with specific antibiotic therapy.

Brain↗
PubMed2000

Central motor conduction to lower limb after transcranial magnetic stimulation in spinocerebellar ataxia type 2 (SCA2).

OBJECTIVES: To evaluate central motor conduction to lower limbs in spinocerebellar ataxia type 2 (SCA2). METHODS: Transcranial magnetic stimulation was performed to study the corticospinal tracts of 18 patients with SCA2. RESULTS: Central motor conduction time (CMCT) to lower limbs and thresholds were abnormal in 8 patients (44%); CMCT and thresholds were significantly correlated with disease duration and disability. CONCLUSIONS: Corticospinal tract involvement is more frequent than previously reported in SCA2. Prolonged CMCT and increased threshold should not be used to differentiate between various type of autosomal dominant cerebellar ataxia. Similar to that reported in Friedreich's ataxia, we suggest that examining central motor conduction to the lower limbs may assist in evaluating the progressive steps of neurodegeneration in SCA2.

Adult↗
PubMed2000

Isolated, unilateral, reversible palsy of the hypoglossal nerve.

We report three patients with isolated unilateral hypoglossal nerve palsy who experienced an excellent outcome. In two patients no cause was found. Our study seems to confirm that the occurrence of benign and idiopathic isolated unilateral palsy of the hypoglossal nerve is more frequent than previously reported. We would like to stress that neuroimaging studies remain mandatory in order to exclude other common causes, such as tumour and spontaneous or traumatic vascular lesions, in which a specific treatment is necessary.

Adolescent↗
PubMed1999

Supratentorial atrophy in spinocerebellar ataxia type 2: MRI study of 20 patients.

There have been only few studies of brain magnetic resonance imaging (MRI) in spinocerebellar ataxia (SCA) type 2. We investigated 20 SCA2 patients, from 11 Sicilian families, and 20 age-matched control subjects using MRI. Our data confirm that olivopontocerebellar atrophy (OPCA) is the typical pattern in SCA2. We found no significant correlation between infratentorial atrophy, disease duration, or the number of CAG repeats in our SCA2 patients, but there was supratentorial atrophy in 12 patients, with a significant correlation between supratentorial atrophy and disease duration. OPCA appears to represent the "core" of the SCA2: however, central nervous system involvement is not limited to pontocerebellar structures. We therefore consider central nervous system degeneration in SCA2 as a widespread atrophy. MRI is helpful in diagnosing SCA, but it is not diagnostic in the absence of clinical and molecular studies. We suggest that serial MRI may play a role in evaluating "in vivo" the progressive steps of neurodegeneration in SCA2, for a better comprehension of the pathophysiology of this disorder.

Adult↗
PubMed1999

Identification of SCA2 mutation in cases of spinocerebellar ataxia with no family history in mid-eastern Sicily.

Differential diagnosis between autosomal dominant cerebellar ataxia type I (ADCA I) and idiopathic cerebellar ataxia type P (IDCA-P) is very difficult given only clinical and neuroradiological data. The only certain distinctive characteristic is the presence or absence of family history. We observed 7 patients with late-onset cerebellar ataxia associated with other non-cerebellar signs and without a family history of the disease in which clinical signs were comparable to symptoms found in SCA2. The neuroradiological study showed olivopontocerebellar atrophy in all patients and the presence of hyperintensity of the transverse pontine fibers in 6 patients (85. 6%); molecular analysis showed SCA2 mutations in 2 patients. We also report the case of a patient who was initially considered as IDCA-P but who was later correctly identified as SCA2 with an atypical family history (false IDCA-P), after a genetic mutation was found and following an interview with the mother. Our data suggest that spinocerebellar ataxia syndrome should be defined as idiopathic not only after having excluded the possible symptomatic causes but also in the absence of family history, after having excluded the presence of genetic mutation. We believe that family history, in late-onset spinocerebellar ataxia, cannot be considered as the differential criterion among hereditary (ADCA-I) and non-hereditary (IDCA-P) forms; molecular analysis is required for a correct diagnosis.

Adult↗
PubMed1999

Clinical and molecular analysis of 11 Sicilian SCA2 families: influence of gender on age at onset.

Autosomal dominant cerebellar ataxias (ADCAs) are a complex group of slowly progressive neurodegenerative disorders characterized by gait and stance ataxia, dysarthria and other symptoms of nervous system involvement. ADCA type I is the commonest form and is genetically heterogeneous; several loci have been identified. Spinocerebellar ataxia type 2 (SCA2) has been mapped to chromosome 12, with expanded cytosine-adenine-guanine (CAG) repeats being identified as the mutational cause of the disease. We investigated 15 families, all originating from mid-eastern Sicily, with ADCA type I; molecular studies performed in 12 families showed the SCA2 mutation to be present in 11 of them (91.6%) - the highest occurrence so far reported in the literature. The CAG repeat of the affected alleles varied between 34 and 44 repeats. Age at onset and repeat length revealed an inverse correlation. Mean age at onset was 37.32 +/- 16. 74 years, and occurred earlier in males than in females. There were no differences in mean CAG repeat units between the sexes. However, a higher instability of CAG repeats was observed for paternal transmission than for maternal transmission. Age at onset and anticipation were not related to parental transmission. Our data suggest that in SCA2 an unknown sex-linked factor may play a role in the modulation of toxic effects of the polyglutamine tract.

Adolescent↗
PubMedDate not supplied

[Neurogenic dysphagia: physiology, physiopathology and rehabilitative treatment].

Swallowing is both a voluntary than a reflex function. It consist in transporting feeding from mouth to the stomach. Swallowing function occurs with very frequency during the day and needs complex neuromuscular coordination. Several neurologic diseases determine swallowing disorders. Dysphagia, is the difficulty in swallowing. In slight disorders, swallowing function is sufficiently compensated, symptoms are few or absent. Sometimes the patient is able to compensate and obtains a safe deglutition. Rehabilitation of swallowing disorders is based on the assessment of all symptoms and troubles causing dysphagia and on the improvement of the specific disabilities. Rehabilitation is aimed to make patient able for a safe oral feeding. We can use classic specific physiotherapy, compensatory movements of head and neck, electrostimulation, and the chemical myotomia by botulinum toxin injection.

Botulinum Toxins↗
PubMedDate not supplied

[Symptomatic management in multiple sclerosis].

Multiple sclerosis is an autoimmune disease, characyerized by demylinization of white matter of Central Nervous System (CNS). Its etiology is still unknown. In the world, about 2.000.000 of people are affected by MS, with higher prevalence in North-America and North-Europe. Two are the essential features of the therapeutical management in MS: 1) immunomodulating therapy, which consists of "disease modifing drugs"; 2) symptomatic treatment. Only some patients can benefit of immunomodulating therapy, whereas symptomatic treatment can be helpfull to everbody. In the following pages the authors will review the medical options used in the diagnostic, prognostic and therapeutic management of MS.

Deglutition Disorders↗