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A P Tormene

Publications and source records attributed to A P Tormene.

10 recordsLinked to original sources
PubMed2001

Ataxia and congenital muscular dystrophy: the follow-up of a new specific phenotype.

Cerebellar hypoplasia may, at neuroimaging studies, be found in association with congenital muscular dystrophy (CMD), although it is an extremely rare occurrence. We here report on three CMD patients who underwent a longitudinal evaluation of clinical and neuroimaging features for a mean period of 18 years. Case 1, a 22-year-old woman, and cases 2 and 3, brothers aged 26 and 20 years, respectively, had presented a mild to moderate muscular weakness and increased serum creatine kinase (CK) levels since birth. All cases were diagnosed in the first years of life, with identification of evident dystrophic changes at muscle biopsy and moderate to severe cerebellar hypoplasia at brain computed tomography (CT) scan. Subsequently, all the patients underwent a second muscle biopsy, with immunostaining and immunoblot analysis, which showed normal values for merosin, dystrophin and dystrophin-related proteins. During the longitudinal study, the patients underwent repeated neurological and psychiatric examinations, serum CK controls, intellectual ability assessments and neuroimaging evaluations (CT and/or magnetic resonance imaging (MRI)). In all cases, these investigations indicated a mild to moderate deficit in the proximal muscles and a clear-cut cerebellar syndrome which, it was assumed, had been present since the first years. The patients also presented some intellectual difficulties, with an IQ of 0.69 in case 1, 0.83 in case 2 and 0.61 in case 3. The clinical course of all the patients was static, and all symptoms of the combined muscle and brain involvement persisted. Nor were any changes in the cerebellar hypoplasia observed at repeat MRIs. Findings obtained by us on the longitudinal study and a review of the literature indicate that cerebellar hypoplasia and merosin-positive CMD constitute a particular clinical phenotype, mainly characterized by an ataxic syndrome associated with a non-severe muscular involvement and a possible mild intellectual impairment.

Adult↗
PubMed1999

Alterations of the retino-cortical conduction in patients affected by classical congenital muscular dystrophy (CI-CMD) with merosin deficiency.

Immunocytochemical analysis of the laminin alpha-2 (merosin) chain in the muscle of patients with Classic Congenital Muscular Dystrophy (Cl-CMD) differentiates the types of the disease associated with a merosin deficit from those that are merosin positive. Patients with Central Nervous System involvement in merosin negative Cl-CMD always present alterations of the white matter at RMI, but usually these are not clinically significant. While ocular malformations (microphthalmia, alterations of the anterior chamber, of the retina, or of the angle and cataract) and damage to the Central Nervous System are described in some subtypes of CMD (Muscle Eye Brain disease, Walker Warburg Syndrome), ocular involvement and retino-cortical conduction in merosin negative Cl-CMD are not well known. This study reports on four patients affected by merosin negative Cl-CMD. All these patients presented important alterations of the white matter associated with ventricular enlargement and, in one case, with pachygyria and micropolygyria. Refraction, visual acuity, ocular motility, anterior segment and fundus were examined. ERG Maximal, Cone and Rod response, VEP transient pattern reversal was carried out as well. Significant alterations at the standard ophthalmologic examination or of the electroretinogram responses were not registered while, in all cases, important modifications in retino cortical conduction (reduction in amplitude, increase in latency, reduction in amplitude on the lateral derivations) were observed, demonstrating involvement of the optic pathway at different levels during the course of this disease.

Adolescent↗
PubMed1990

Electrophysiology of the optic nerve: recent insights.

The introduction of automated recording and processing systems, the development of electro-optical technologies, and the numerous findings deriving from experimental electrophysiology have intensified the interest in electrofunctional non-invasive tests for optic pathways studies. Pattern ERG was demonstrated as the most efficacious stimulus to investigate the ganglion cell activity. The contrast sensitivity measurement by means of electrofunctional methods, contribute to obtain more information about the retinal and optic pathways functionality. The utility of electrofunctional and psychophysic methods in some pathologies of optic pathways (diabetes opticopathy, endocular hypertension, retrobulbar neuritis) is discussed.

Animals↗
PubMed1989

Electrophysiology in optic nerve development.

After an examination of the anatomical modifications of the retina and optic nerve during the early phases of development, the authors consider variations in some electrofunctional responses: PEV--PERG--ERG and retinocortical time.

Aging↗
PubMed1989

Electrophysiological findings in anterior ischemic optic neuropathy.

Electroretinograms (ERG), oscillatory potentials (OP) and pattern reversal visual evoked potentials (VEP) were performed in nine patients (mean age 66 years) with unilateral long-standing anterior ischemic optic neuropathy (AION) and in an age matched control group. Normal ERGs but bilateral impaired OPs were observed in virtually all AION affected patients. Regardless of visual acuity, VEP amplitude reduction was found in all eyes with AION and in controlateral eyes of patients with associated systemic conditions such as diabetes mellitus, arterial hypertension and atherosclerosis. A normal latency of VEP was found bilaterally in AION affected patients; however no correlation between VEP latency and visual acuity or fields could be established. Our results seem to indicate moderate ischemic damage to the retina and to the axons of the optic pathways in patients with AION.

Aged↗
PubMed1985

Correlation of ERG and pigment epithelium changes in external progressive ophthalmoplegia (EPO).

Six out of 17 patients with progressive external ophthalmoplegia (EPO) were found to have pigment anomalies with alterations in the electroretinographical (ERG) tracings. However, fluorangiography demonstrated alterations of the retinal pigment epithelium in patients with normal fundus and ERG examinations. We conclude that in our series there was no correlation between retinopathy and tapetoretinal degeneration.

Adolescent↗
PubMed1983

Opto-chiasmatic arachnoiditis in the young.

14 young patients, operated upon for opto-chiasmatic arachnoiditis by craniotomy are presented. 2 main etiopathogenetic forms (and their respective clinical equivalents) of the disease could be recognized. Only 1 postoperative death occurred, in a patient with a dominant clinical picture of intracranial hypertension. Results of surgery (craniotomy and lysis of adhesions) could be distinguished as positive (functional improvement) in 5 cases, indifferent or negative in the others, with a follow-up duration of up to 23 years. The role of the diagnostic value of the pneumoencephalogram as a basis for surgical indication is discussed: it is felt that this examination, when reported as negative, is not of sufficient value to rule out the diagnosis, which must essentially rely upon clinical data.

Adolescent↗
PubMedDate not supplied

Clinical-economic audit of electrophysiologic examinations in ophthalmology.

To assess the diagnostic efficiency and direct costs of electrophysiologic tests, times and clinical data (admittance, diagnosis, final diagnosis and clinical reports) of 144 patients were recorded and statistically analyzed. Capital outlay on equipment and personnel costs were also evaluated to determine the economic impact of the tests. Electrophysiologic tests were found to play an important role in diagnosis and choice of therapy. It is important to improve collaboration between the referring ophthalmologist and the electrophysiology staff to inform patients better and to optimize the cost-benefit standards of the service. The current reimbursement by the Regional Public Health Service underestimates the costs of electrophysiologic tests.

Cost-Benefit Analysis↗
PubMedDate not supplied

Electroretinogram and visual-evoked potentials in children with optic nerve coloboma.

The aim was to evaluate alterations in Visual-Evoked Potentials (VEP) and Electroretinogram (ERG) and discover whether these tests are useful for determining residual visual acuity in cases where a patient is unable to collaborate. Flash and, when possible, Transient Pattern Reversal Visual-Evoked Potentials and Maximal Response ERG were recorded in 8 children (under three years old) affected by different aspects of optic nerve coloboma. None of them had visual acuity evaluated because of poor collaboration. All examinations were carried out using skin electrodes. Amplitude of the a and b component of ERG, amplitude, morphology and latency of the major components of Flash VEP and amplitude and latency of P100 Pattern Reversal VEP were evaluated. Four of the patients were examined three years later and visual acuity was compared with the previous electrofunctional results. Alterations in ERG were found only in the case of significant retinal anomalies (great coloboma, retinal detachment), huge alterations were found in both Flash VEP and in Pattern Reversal VEP. The retrospective study of VEP traces and visual acuity showed a good correlation between electrofunctional data and visual capability. Electrofucntional examinations can identify important conductive retinocortical anomalies. The possibility of correlating electrophysiological results with residual visual acuity is important for rehabilitative management in such optic disc malformations.

Child, Preschool↗