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Biomedical subjects

F Carella

Publications and source records attributed to F Carella.

At least 37 records · Page 2Linked to original sources
PubMed1997

Virtual reality environments for psycho-neuro-physiological assessment and rehabilitation.

Virtual Reality Environments for Psychoneurophysiological Assessment and Rehabilitation-is an European Community funded project (Telematics for health-HC 1053 http:/(/)www.etho.be/ht_projects/vrepar/) whose aim is: to develop a PC based virtual reality system (PC-VRS) for the medical market that can be marketed at a price which is accessible to its possible end-users (hospitals, universities and research centres) and which would have the modular, connectability and interoperability characteristics that the existing systems lack; to develop three hardware/software modules for the application of the PC VRS in psychoneurophysiological assessment and rehabilitation. The chosen development areas are eating disorders (bulimia, anorexia and obesity), movement disorders (Parkinson's disease and torsion dystonia) and stroke disorders (unilateral neglect and hemiparesis). This paper presents the rationale of the different approaches and the methodology used.

Cerebrovascular Disorders↗
PubMed1995

Intrathecal immune activation in three patients with progressive myoclonic ataxia.

Three patients displaying a clinical picture of progressively evolving multifocal action myoclonus and cerebellar ataxia showed a marked intrathecal immune activation, which was persistent over a 2- to 5-year time span in the two serially investigated patients. A thorough search for metabolic, toxic, infectious, or degenerative causes of myoclonus was unsuccessful. The presence of intrathecal immune activation in at least a subgroup of patients with the clinical features of progressive myoclonic ataxia suggests the possibility of immune-mediated damage within the central nervous system in this condition.

Adult↗
PubMed1995

Magnetic resonance signal abnormalities along the pyramidal tracts in amyotrophic lateral sclerosis.

Magnetic resonance imaging (MRI) studies of the brain were reviewed in 16 patients with amyotrophic lateral sclerosis (ALS), representative of a large and homogeneously studied series, 11 of whom showed signal abnormalities along the pyramidal tracts. These were more frequent in patients with more severe upper motor neuron signs but did not correlate with disease severity. Our study suggests that MRI signal abnormalities along the pyramidal tracts are common in ALS and may reflect the severity of pyramidal tract degeneration.

Amyotrophic Lateral Sclerosis↗
PubMed1995

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

We report on a new maternally-inherited syndrome characterized by a combination of sensorineural hearing loss, ataxia and myoclonus in a large kindred from Sicily. Hearing loss was the most widespread and sometimes the only symptom found in family members. Sequence analysis of the mitochondrial DNA regions encompassing the tRNA genes revealed the presence of a heteroplasmic insertion at nucleotide position 7472. The insertion adds a seventh cytosine to a six-cytosine run that is part of the mitochondrial tRNASer(UCN) gene. Conformational analysis showed that this mutation is likely to alter the structure of the T psi C loop in the tRNASer(UCN) clover leaf secondary structure. Moreover, the degree of heteroplasmy in blood and muscle was correlated with the clinical phenotype, and homoplasmic mutant hybrids showed decreased complex I activity, low oxygen consumption and high lactic acid output, indicating faulty oxidative phosphorylation. Finally, mutation was absent in 381 unrelated maternal lineages, suggesting specific segregation with the disease. We propose that the C7472 insertion-mutation is pathogenic, and etiologically related to hearing loss and other symptoms that define a novel maternally-inherited clinical entity.

Ataxia↗
PubMed1994

Factors affecting course and survival in Alzheimer's disease. A 9-year longitudinal study.

OBJECTIVE: To evaluate mean survival and to identify prognostic factors in a cohort of patients with Alzheimer's disease (AD). DESIGN: Multicentric 9-year cohort analytic study. SETTING: Seven neurology departments throughout Italy between April 1982 and January 1984. PATIENTS: We recruited a consecutive sample of 145 patients affected by probable AD (Multicenter Italian Study on Dementia protocol, National Institute of Neurological Disorders and Stroke-Alzheimer's Disease and Related Disorders Association criteria). Five were misdiagnosed, and 21 could not participate in the longitudinal study. The clinicodemographic characteristics of the 119 enrolled patients (49 men, 70 women; mean age, 64.7 years; SD, 4.1 years; mean duration of disease, 3.1 years; SD, 1.8 years) did not differ from those of the 26 excluded patients. All underwent extensive cliniconeuropsychological testing every 6 months for at least 2 years until the patient died or our survey ended (April 30, 1991). Mean follow-up was 5.1 years (SD, 2.5 years). MAIN OUTCOME MEASURES: Death, severe functional impairment (a score > or = 17 on the Blessed Dementia Scale), and severe cognitive impairment (a score of < or = 7 on the Information-Memory-Concentration Test). RESULTS: Survival curves obtained by the Kaplan-Meier method indicated that (1) patients with early- and late-onset disease (ie, before or after age 65 years) showed no difference either in relative survival or in time to reach predetermined functional and cognitive end points; (2) severely aphasic patients became profoundly demented significantly sooner than those with mild to moderate aphasia (P < .0001). Among clinicodemographic variables analyzed by a Cox model, severe language disability and functional loss proved to be the best predictors of death independent of age at onset or degree of dementia. CONCLUSIONS: Age at onset did not influence course and survival in AD. Severe aphasia appears to be the best predictor of death and unfavorable course.

Aged↗
PubMed1994

Exteroceptive reflexes in dystonia: a study of the recovery cycle of the R2 component of the blink reflex and of the exteroceptive suppression of the contracting sternocleidomastoid muscle in blepharospasm and torticollis.

The recovery cycle of the R2 component of the blink reflex and the exteroceptive suppression of EMG activity in the contracting sternocleidomastoid muscle produced by electrical stimulation of the supraorbital nerve were studied in normal subjects and in patients with either blepharospasm or torticollis. The latencies of the reflexes were normal, suggesting that the neural structures that mediated them were intact. However, the recovery of the R2 component of the blink reflex was enhanced in patients with either blepharospasm or torticollis. Also, the size of the exteroceptive suppression of the sternocleidomastoid muscle was reduced in both groups of patients. Our results are indicative of abnormalities of interneurons mediating exteroceptive reflexes in patients with craniocervical dystonia that are not restricted to the systems controlling the muscle involved in the dystonia.

Adult↗
PubMed1994

Reliability among neurologists in the severity assessment of blepharospasm and oromandibular dystonia: a multicenter study.

The reliability of a scale of 0 to 4 (where 0 is normal) in rating the severity of blepharospasm (BS) and oromandibular dystonia (OMD) was evaluated by the concordance among six neurologists from different neurological institutions. As expressed by k index, interobserver agreement was moderate either for BS or for OMD according to the Landis classification. Neurologists showed different rating attitude toward BS and OMD. In fact, the category analysis showed that raters were inclined to overestimate BS and to underestimate OMD. The familiarity with dystonia influenced reliability more than the length of professional experience in neurology. In fact, when examiners were subdivided into subgroups (each of three raters) according to the former criteria, the level of interobserver agreement increased significantly. Almost perfect agreement was obtained in intrarater comparisons. These results may be of value with regard to the conduct of multicenter epidemiologic and clinical studies on focal dystonias.

Adult↗
PubMed1994

Sneddon's syndrome: clinical and immunohistochemical findings.

Results of immunological studies on skin biopsies of 5 patients with Sneddon's syndrome are reported. Also studied were coagulation factors and autoantibodies believed to play a role in this syndrome. Hemostasis was normal except for a mild increase of fibrinogen in one subject; lupus anticoagulant (LAC) and anticardiolipin antibodies were negative in all. The skin biopsies ruled out systemic vasculitis and vasculitis in association with connective tissue diseases. Sneddon's syndrome is a peculiar clinicopathological condition, probably with several etiologies, but is distinct from primary antiphospholipid syndrome.

Adult↗
PubMed1994

Loss of osmotic thirst in multiple system atrophy: association with sinoaortic baroreceptor deafferentation.

We evaluated plasma osmolality (pOsm), thirst, and vasopressin response to hypertonic saline infusion in 14 patients with multiple system atrophy (MSA). This disease is characterized by the degeneration of noradrenergic neurons in the central nervous system and severe orthostatic hypotension. Seven patients were also characterized by the lack of vasopressin response to hypotension (group B) and seven by a preserved response (group A). In group A pOsm rose from 290 +/- 2 to 312 +/- 6 mosmol/kgH2O, vasopressin from 0.9 +/- 0.3 to 5.7 +/- 0.5 pmol/l, and thirst from 1.1 +/- 0.1 to 8.7 +/- 1.1 cm on the visual analog scale. After saline, patients drank 1,215 +/- 150 ml of water (no different from healthy controls). In group B patients' pOsm rose from 296 +/- 3 to 325 +/- 6 mosmol/kgH2O and vasopressin from 1.2 +/- 0.1 to 19.6 +/- 0.4 pmol/l (P < 0.01 vs. group A and controls). Group B patients had no thirst during saline and drank little after the challenge (175 +/- 50 ml; P < 0.01 vs. group A and control). Forced drinking decreased vasopressin in patients before changes in pOsm, showing that inhibitory afferents from oropharyngeal mucosa were intact. In MSA patients with altered afferent control of vasopressin there is a dissociation between the osmotic control of thirst and the osmotic control of vasopressin.

Afferent Pathways↗
PubMed1993

Clinical and magnetic resonance features of the classic and akinetic-rigid variants of Huntington's disease.

We studied 32 patients with confirmed Huntington's disease (HD); six (mean age, 31.7 years) had the akinetic-rigid form and 26 (mean age, 46.1 years) had the classic hyperkinetic form. Clinical examination included a count of abnormal involuntary movements, motor self-sufficiency evaluation by the Physical Disability Rating Scale, cognitive function assessment by the Mini-Mental State examination, and a verbal fluency test. Magnetic resonance imaging permitted measurement of bicaudate diameter, a sensitive indicator of caudate atrophy in HD. Patients with the akinetic-rigid form of HD were younger and had earlier disease onset than those with the classic form of HD. All patients with akinetic-rigid HD (group 1) had striatal hyperintensity on T2-weighted magnetic resonance images; seven patients with classic HD (group 2) had a similar abnormality. Groups 1 and 2 were in fact similar in all other respects, except that the number of abnormal involuntary movements was greater in group 2. Groups 1 and 2 together had significantly younger age at onset, lower Mini-Mental State Examination score, more severe motor disability, worse verbal fluency test result, and greater bicaudate diameter than the 19 patients with classic HD without magnetic resonance signal abnormality (group 3) and appear to be a uniform population, distinct from group 3. The abnormalities on magnetic resonance images indicated greater striatal damage in groups 1 and 2, which could be the neuroanatomic substrate of their greater motor and cognitive compromise.

Adult↗
PubMed1993

Adult onset myoclonic Huntington's disease.

A patient with adult onset Huntington's disease (HD) and prominent action myoclonus is described. Neither epileptiform activity nor electroencephalography (EEG) correlates of the movements was found. Unlike the case with most (nonmyoclonic) HD patients, centro-parietal components of somatosensory evoked potentials (SEPs) were well defined and a clear V2 response was found. Treatment with valproic acid greatly reduced myoclonus suggesting that the gamma-aminobutyric acid (GABA) system might be involved in the pathophysiology of myoclonus in HD.

Adult↗
PubMed1993

Botulinum toxin treatment in patients with focal dystonia and hemifacial spasm. A multicenter study of the Italian Movement Disorder Group.

In six Centers belonging to the Italian Movement Disorder Study Group, the efficacy of botulinum toxin treatment was evaluated in an open collaborative study in 251 patients with focal dystonia and hemifacial spasm. The percentage of functional improvement ranged from 66% to 81% in patients with blepharospasm, from 40% to 51% in patients with spasmodic torticollis and from 73% to 81% in those with hemifacial spasm. Good results were also obtained in patients with oromandibular dystonia, laryngeal dystonia and writer's cramp. Side effects were mild and transient. Local botulinum toxin injection is the first choice symptomatic treatment in focal dystonia and hemifacial spasm.

Adult↗
PubMed1991

Interobserver reliability between neurologists in training of Parkinson's disease rating scales. A multicenter study.

A multicenter study has been conducted to determine the interobserver reproducibility of four of the most frequently used rating scales for Parkinson's disease: the Columbia University Rating Scale (CURS) and the Webster Rating Scale (WRS), both for assessing clinical signs; the Northwestern University Disability Scale (NUDS); and the Hoehn and Yahr staging. Four resident neurologists, inexperienced in the use of the four scales, independently examined 48 parkinsonian patients. The extent to which their assessments agreed was determined by calculating the Cohen k index after the scores had been recodified. The physicians' scores agreed substantially for the CURS and the Hoehn and Yahr scale, while those for the NUDS and the WRS agreed only moderately. Analysis of individual item scores within the scales suggests improvements that would offer greater interobserver consistency.

Disability Evaluation↗
PubMed1990

Italian Multicentre Study on Dementia (SMID): a neuropsychological test battery for assessing Alzheimer's disease.

For the Italian Multicentre Study on Dementia, a longitudinal survey on Alzheimer's disease (AD) initiated in 1982, we developed a neuropsychological test battery for screening, staging and monitoring cognitive impairment in AD patients and for delineating their pattern of cognitive decline. The tests measured higher cortical functions primarily involved in AD, such as short- and long-term memory, orientation, language, and praxis, and spanned a large enough range of difficulty to minimize ceiling and floor effects. We administered this battery to 143 clinically diagnosed AD patients and 146 hospital controls whose scores were corrected for age and educational level. Interrater and test-retest reliability were substantial, as were content and concurrent validity. Five of the battery's subtests proved capable of accurately screening early demented from non-demented elderly subjects and of staging mild, moderate, severe and very severe mental impairment. The mean performance of subjects classified into these categories differed significantly on all cognitive functions tested. Follow-up studies are in progress.

Aged↗