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R Mutani

Publications and source records attributed to R Mutani.

At least 19 recordsLinked to original sources
PubMed2006

The effect of gender on planning: An fMRI study using the Tower of London task.

Since the introduction of brain mapping, evidences of functional gender differences have been corroborating previous behavioral and neuropsychological results showing a sex-specific brain organization. We investigated gender differences in brain activation during the performance of the Tower of London (TOL) task which is a standardized test to assess executive functions. Eighteen healthy subjects (9 females and 9 males) underwent fMRI scanning while solving a series of TOL problems with different levels of difficulty. Data were analyzed by modeling both genders and difficulty task load. Task-elicited brain activations comprised a bilateral fronto-parietal network, common to both genders; within this network, females activated more than males in dorsolateral prefrontal cortex (DLPFC) and right parietal cortex, whereas males showed higher activity in precuneus. A prominent parietal activity was found at low level of difficulty while, with heavier task demand, several frontal regions and subcortical structures were recruited. Our results suggest peculiar gender strategies, with males relying more on visuospatial abilities and females on executive processing.

Adult↗
PubMed2006

Caregiver time use in ALS.

The authors evaluated the caregiver time for 70 patients with ALS. The mean number of caregivers per patient was 2.0 (SD 1.3). Caregiver time increased with worsening of disability (p = 0.0001). The most time-consuming duties were housekeeping, feeding, and toileting. With worsening of patients' disability, families relied increasingly on paid caregivers. Caregiver time is a hidden cost of ALS care and is a major burden for caregivers.

Aged↗
PubMed2006

Positive effects of tertiary centres for amyotrophic lateral sclerosis on outcome and use of hospital facilities.

OBJECTIVE: To evaluate the effects of tertiary centres for amyotrophic lateral sclerosis (ALS) on ALS outcome and the use of hospital facilities. METHODS: The study was based on the data of an epidemiological, prospective, population-based register on ALS (Piemonte and Valle d'Aosta Register for amyotrophic lateral sclerosis, PARALS). The 221 patients recruited between 1995 and 1996 were prospectively followed up for outcome and use of hospital-based services. RESULTS: In all, 97 patients were followed up by tertiary ALS centres and 124 by general neurological clinics. Patients followed up by tertiary ALS centres were found to be 4 years younger and underwent percutaneous endoscopic gastronomy and non-invasive positive-pressure ventilation more often. Patients followed up by tertiary ALS centres were found to have a considerably longer median survival time (1080 v 775 days), even when stratifying by age, site of onset and respiratory function at diagnosis. In Cox multivariate analysis, attending a tertiary ALS centre was observed to be an independent positive prognostic factor. Moreover, patients attending a tertiary ALS centre were admitted to hospital less often (1.2 v 3.3) and were more frequently admitted for planned interventions. Conversely, patients followed up by general neurological clinics were more frequently admitted for acute events. Also, the hospital stay was considerably shorter for patients attending tertiary ALS centres (5.8 v 12.4 days). CONCLUSIONS: Improved survival was seen in patients with ALS attending tertiary ALS centres, independently from all other known prognostic factors, possibly through a better implementation of supportive treatments. Moreover, because of these centres, the hospitalisation rate was markedly reduced, thus offering a cost-effective service to patients with ALS and to the community as a whole.

Aged↗
PubMed2006

Fertility in patients with multiple sclerosis: current knowledge and future perspectives.

The issue of fertility in patients with multiple sclerosis (MS) has not been exhaustively studied. Epidemiological data have suggested that spontaneous fecundity might be reduced; several endocrine and sexual disturbances potentially interfering with reproduction have been evidenced in MS patients of both sexes. Moreover, some medical treatments used in MS (e. g., mitoxantrone, cyclophosphamide) may exert detrimental effects on spermatozoa as well as on oocytes, leading to early impairment of fertility. This review illustrates the factors potentially interfering with fertility in MS and discusses the therapeutic tools that may be used to promote fertility in these patients. The safety of hormonal therapies in MS is also examined. The current applications of assisted reproductive technology (ART) are discussed, including in vitro fertilisation (IVF) techniques. Currently available methods to preserve fertility in patients that undergo cytotoxic treatments by means of sperm/oocyte cryostorage or by ovarian fragment cryopreservation and autografting are considered.

Antineoplastic Agents↗
PubMed2005

Caregiver burden and patients' perception of being a burden in ALS.

The determinants of ALS caregiver burden and the feeling of the patients as being a burden were assessed using the Caregiver Burden Inventory and the Self-Perceived Burden Scale in 60 caregiver-patient couples. Caregiver burden was correlated to their level of depression and quality of life and, differently from other chronic disorders, increased with the worsening of patients' disability. ALS patients have a good objective perception of their impact on caregivers.

Activities of Daily Living↗
PubMed2005

The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutation.

Amyotrophic lateral sclerosis (ALS) is caused by mutations in the gene for Cu/Zn superoxide dismutase (SOD1) in 10% of familial and sporadic cases. During the SOD1 analysis of 9 FALS and 121 SALS, in only one sporadic case we found the exonic mutation N19S; in 15 SALS patients we found a 319t>a variation in IVS1 sequence, at 108 bp upstream from exon 2. This variation has an unusually high frequency of 11% and is always in linkage disequilibrium with a described polymorphism in IVS3, +34a>c. The 319t>a variation is classified in two different public databases, HGMD and The ALS Online Database, as a splicing mutation and not as a polymorphism. The unusually high frequency of this mutation in our patients prompted us to determinate its frequency in 130 age- and gender- matched healthy controls and in 54 patients with Alzheimer's disease. We found again linkage disequilibrium with the polymorphism in intron 3, and the frequency of 11% and 7.8%, respectively. These results strongly support the idea that the IVS1 +319 t>a alone is not an ALS causing mutation, and that special care must be taken in the interpretation of data from mutations databases for correct genetic counselling.

Aged↗
PubMed2004

Percutaneous radiological gastrostomy: a safe and effective method of nutritional tube placement in advanced ALS.

BACKGROUND: Enteral nutrition may be required in amyotrophic lateral sclerosis (ALS), and is usually achieved by percutaneous endoscopic gastrostomy (PEG). As PEG is not indicated in patients with severe respiratory impairment, an alternative is percutaneous radiological gastrostomy (PRG), involving air insufflation into the stomach under fluoroscopic guidance for tube insertion. OBJECTIVE: To evaluate the safety of PRG and its effect on survival and respiratory function in ALS patients with respiratory failure. METHODS: 25 consecutive ALS patients with severe dysphagia and forced vital capacity (FVC) <50% underwent PRG after October 2000. They were compared with 25 consecutive ALS patients with FVC <50% who underwent PEG before October 2000. Respiratory function was evaluated before and after the procedure. RESULTS: The two groups were similar for all relevant characteristics. PRG was successful in all cases, PEG in 23/25. One patient in each group died after the procedure. The mean survival time after the procedure was 204 days in the PRG group and 85 days in the PEG group (p<0.004). Respiratory function decreased more in the PEG group than in the PRG group (p<0.02). CONCLUSIONS: PRG appears to be safer than PEG in ALS patients with moderate or severe respiratory impairment, and is followed by a longer survival.

Aged↗
PubMed2004

A cross sectional study on determinants of quality of life in ALS.

BACKGROUND: Understanding the determinants of quality of life (QoL) in amyotrophic lateral sclerosis (ALS) has become increasingly important with the recent emphasis on the comprehensive management of patients. OBJECTIVE: To evaluate the determinants of QoL in ALS using two scales with different theoretical constructs: the Schedule for the Evaluation of QoL-Direct Weighting (SEIQoL-DW), which evaluates subjective aspects of QoL, and the McGill QoL Questionnaire (MQOL), which evaluates both health related and non-health related factors of QoL. METHODS: Eighty consecutive patients with ALS underwent a battery of tests evaluating QoL and a series of physical, emotional, psychological, and socioeconomic predictor variables. A stepwise linear regression model was used to compare QoL scores and explicatory variables. RESULTS: SEIQoL-DW score was related to social support, depression, religiosity, and socioeconomic status. Total MQOL score was related to social support, socioeconomic status, and clinical status. MQOL single item score (MQOL-SIS) was related to social support, depression, social withdrawal, and socioeconomic status. SEIQoL-DW score was not related to total MQOL score. Conversely, a significant correlation was found between SEIQoL-DW and MQOL-SIS. CONCLUSIONS: With both QoL scales, the most important explicatory variable of QoL was the self perceived quality of social support. Physical status was not relevant in determining QoL. This study indicates that health related QoL measures are not adequate to assess QoL in patients with ALS, because their appreciation of QoL mainly relies on psychological, supportive, and spiritual factors. Therapeutic interventions should consider the psychological needs of patients and pay greater attention to caregivers' issues.

Adult↗
PubMed2003

Cesare Lombroso, cortical dysplasia, and epilepsy: keen findings and odd theories.

BACKGROUND: Cesare Lombroso supported a common origin of criminality, genius, and epilepsy as caused by factors impairing the embryonic development of the CNS, mainly affecting the hierarchically superior neural centers. OBJECTIVE: To describe the first observations of cortical dysplasia in patients with epilepsy by Cesare Lombroso and his coworkers in 1896. RESULTS: To confirm his theories, Lombroso emphasized the need for the direct observation of the patient, using anthropologic, social, neurophysiologic, economic, and pathologic data. With the collaboration of his pupil Luigi Roncoroni, Lombroso described a prevalence of large, giant pyramidal neurons and polymorphous cells through the gray matter of the frontal cortex in 13 patients with epilepsy. Most of the large pyramidal neurons were haphazardly arranged, presenting also an abnormal orientation of their apical dendrites. The number of nervous cells was noticeably reduced, with the presence of abundant gliosis. Moreover, the granular layers were dramatically reduced or absent in most patients, and numerous nervous cells were present in the subcortical white matter. This particular finding was never observed in specimens from criminal and healthy control subjects. Lombroso and Roncoroni explained their finding as evidence of an arrest of CNS development. CONCLUSIONS: More than one century ago, Cesare Lombroso and collaborators described developmental lesions in the frontal cortex of patients with epilepsy, which correspond to what currently is called Taylor's dysplasia. However, they used their observations to support their scientific misconception on the relationship between criminality, epilepsy, and genius.

Brain↗
PubMed2003

Guillain-Barré syndrome: a prospective, population-based incidence and outcome survey.

OBJECTIVE: The authors evaluated the incidence and long-term prognostic factors of Guillain-Barré syndrome (GBS) in a prospective, population-based study. METHODS: Patients with GBS diagnosed according to National Institute of Neurological and Communicative Disorders and Stroke criteria in the 2-year period 1995 to 1996 in two Italian regions were prospectively followed up for 2 years after onset of GBS. RESULTS: A total of 120 patients were found, corresponding to a crude annual incidence rate of 1.36/100,000 population (95% CI, 1.13 to 1.63). A total of 7 (5.8%) patients, all but one with axonal or mixed EMG pattern, died acutely within 30 days from the onset of the disease. Acute mortality was due to respiratory involvement and intensive care unit complications. In multivariate analysis, a worse 2-year outcome (Hughes score >or=2) was related to a higher Hughes grade at nadir, axonal or mixed EMG, age >or=50 years, and absence of respiratory infections preceding GBS. The persistence of disability 2 years after the acute phase was related to axonal involvement and a worse status at nadir. CONCLUSIONS: After adjustment to US population, the incidence rates for GBS from different countries showed no significant differences. Both acute mortality and long-term disability in GBS seem to be related to an axonal involvement and a Hughes grade >or=2 at nadir.

Adolescent↗
PubMed2003

The ideal characteristics of antiepileptic therapy: an overview of old and new AEDs.

New and improved anti-epileptic drugs (AEDs) have made the concept of choice, according to the individual prognosis and probable response to specific regimens, increasingly feasible. Inter-individual variability in syndrome severity and complexity make individualization necessary. We propose three categories of disorder control according to the individual objectives of the patient: (1) seizure control, (2) epilepsy control and ultimately, (3) "epilepsy cure"; the latter remaining a largely idealistic target today. An AED is likely to be successful if it exhibits "optimal" characteristics, such as drug efficacy, tolerability, pharmacokinetics, interactions and cost-effectiveness. This review discusses the "optimal" characteristics of add-on AEDs, which, in addition to seizure control, will contribute to the achievement of epilepsy control and therefore address the currently unmet clinical needs of epilepsy treatment.

Anticonvulsants↗
PubMed2003

Hypnic headache syndrome: association of the attacks with REM sleep.

We describe the polysomnographic data of two patients with nocturnal headache attacks fulfilling the clinical criteria for hypnic headache syndrome. Two overnight polysomnographic studies were performed in each patient. Four nocturnal headache attacks were captured, all emerging from the REM phase of sleep. Our findings suggest a close relationship between the REM phase of sleep and the appearance of hypnic headache attacks.

Female↗
PubMed2002

Early symptom progression rate is related to ALS outcome: a prospective population-based study.

OBJECTIVE: To define the factors related to ALS outcome in a population-based, prospective survey. METHODS: The 221 patients (120 men and 101 women) listed in the Piemonte and Valle d'Aosta ALS Register between 1995 and 1996 were enrolled in the study. The patients were prospectively monitored with a standard evaluation form after diagnosis. RESULTS: Mean age at onset was 62.8 (SD = 11.2) years. According to El Escorial diagnostic criteria (EEDC), 112 patients had definite ALS, 85 probable ALS, 18 possible ALS, and six suspected ALS. The median survival time from symptom onset was 915 days (95% CI = 790 to 1065). The median survival time from diagnosis was 580 days (95% CI = 490 to 670). In univariate analysis, outcome was significantly related to age, onset site, EEDC classification, and symptom progression rate (i.e., the rate of decline of muscle strength and bulbar and respiratory function in the 6 months after diagnosis). In the Cox multivariate model, age, progression rate of respiratory, bulbar, and lower limb symptoms, EEDC classification, percutaneous endoscopic gastrostomy, and treatment with riluzole were significantly related to outcome. CONCLUSIONS: The rate of progression of symptoms in early ALS is predictive of disease outcome.

Aged↗
PubMed2002

Risk factors for a first generalized tonic-clonic seizure in adult life.

To evaluate risk factors for a first generalized tonic-clonic seizure (GTCS) in adults (=15 years), we performed a multicenter, case-control study involving eleven first-referral neurological departments in north-western Italy. The study enrolled 278 patients with a first GTCS, and 556 age- and sex-matched hospital controls. Cases and controls were interviewed through a questionnaire (inter-rater and index-proxy agreement varied between 75% and 100% for the different questions). Risk factors significantly associated with a first GTCS were: severe head trauma (odds ratio 9.9; 95% confidence limits 2.0-67.1), siblings with seizures (5.7; 1.7-21.4), alcohol intake >50 grams/day (4.9; 3.1-7.9), history of stroke (3.8; 1.8-8.0), complications of delivery (2.7; 1.5-5.1), other relatives with seizures (2.4; 1.3-4.6), sleep deprivation (2.4; 1.4-4.1), low gestational age (1.9; 1.1-3.4), mild-moderate head trauma (1.8; 1.2-3.0), and low birth weight (1.6; 1.0-2.7). Genetic and late acquired factors and life habits are major risk factors for a first GTCS in adults, while pre- and perinatal events play only a minor role.

Adolescent↗
PubMed2002

Chronic alcohol use and first symptomatic epileptic seizures.

OBJECTIVE: To establish whether chronic alcoholism and alcohol consumption are risk factors for developing a first symptomatic epileptic seizure. METHODS: Multicentre case-control study of 293 patients (160 men, 133 women) with a first seizure symptomatic (either acute or remote) of head trauma, stroke, or brain tumour, matched to 444 hospital controls for centre, sex, age (+/-5 years), and underlying pathology. RESULTS: The risk of first seizure in alcoholics was no higher than in non-alcoholics for men (odds ratio 1.2, 95% confidence interval 0.4 to 3.2) or women (1.5, 0.1 to 54.4). The odds ratio (both sexes) was 1.2 (0.8 to 1.7) for an average intake of absolute alcohol of 1-25 g/day, 0.9 (0.5 to 1.5) for 26-50 g/day, 1.6 (0.8 to 3.0) for 51-100 g/day, and 1.4 (0.5 to 3.5) for >100 g/day. CONCLUSIONS: We found no evidence of an association between alcohol use or alcoholism and a first symptomatic seizure.

Adult↗