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Biomedical subjects

G Masè

Publications and source records attributed to G Masè.

9 recordsLinked to original sources
PubMed2001

ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene.

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a progressive neurological disorder. The mutations of Cu/Zn superoxide dismutase gene (SOD1) are responsible for familial ALS. We investigated a large family of Istro-Rumanian origin characterized by an autosomal dominant ALS occurring in 18 cases (three of which are still alive) throughout six generations. METHODS: Clinical data were available for nine patients from the 2nd generation onward, among which one contained the neuropathological details. The mean age at onset of the disease (+/-SD) was 57.3+/-8.9 years (range 49-72), while the duration of the disease spanned over a length of time equal to 4.9+/-1.96 years (range 1.5-7). The analysis of the coding region of SOD1 was done by PCR and direct sequencing. The SOD1 activity was measured by using the red and mononuclear cells belonging to three of the patients. RESULTS: The leu144phe mutation of SOD1 was identified in four patients while a normal sequence was found in five healthy related subjects. The molecular defect was responsible for a decrease in SOD1 activity. Most of patients in this family presented clinical manifestations of ALS (in particular, the lower limb onset variant) not as severe as typical ALS caused by other SOD1 mutations. However, one patient suffering from hyperthyroidism for 17 years, showed an early onset and a rapidly progressing ALS coupled with dementia. CONCLUSIONS: We described a large family with a relatively not severe phenotype of ALS (due to a leu144phe SOD1 mutation) that was compromised in one patient by a concomitant hyperthyroidism.

Age of Onset↗
PubMed1995

Immediate prognosis of primary intracerebral hemorrhage using an easy model for the prediction of survival.

We reviewed the medical records and CT scans of 138 patients hospitalized for spontaneous supratentorial hemorrhage and conservatively treated. Seventeen clinico-anamnestic variables and five CT desumed findings were collected. Using univariate analysis we found eight significant predictors of 30-day mortality: intraventricular spread (IVS) of blood, volume of the hemorrhage, Glasgow Coma Scale (GCS) score, midline shift, hyperglycemia, pupillary abnormalities, limb paresis and gaze deviation. With multivariate logistic regression analysis we found three independent predictors of 30-day mortality: IVS of blood, volume of the hemorrhage and GCS score. Using these three independent variables we developed an easy model which allows an immediate estimate of the probability of survival with a high degree of sensitivity and specificity.

Adult↗
PubMed1995

Transient global amnesia and transient ischemic attack. Natural history, vascular risk factors, and associated conditions.

BACKGROUND AND PURPOSE: The purpose of the present study was to make an attempt to ascertain the etiology of transient global amnesia (TGA), which is still disputed more than 30 years after the first description of this clinical entity. METHODS: In a case-control study, we compared the prevalence of vascular risk factors in 64 TGA patients with 64 first-ever transient ischemic attack (TIA) control subjects and 108 normal community-based control subjects matched for age and sex. We prospectively studied the vascular events and mortality rates of the TGA cases and of the TIA control subjects. Then we compared the outcome of the two groups using actuarial analysis based on survival curves. RESULTS: We did not find evidence of an increased risk of TGA associated with any vascular risk factor. In contrast to TIA control subjects, no TGA patient suffered stroke, myocardial infarction, or TIA during the follow-up period. Migraine was more common in TGA patients than in both normal and TIA control subjects. In three patients (4.5%), the TGA was eventually considered to be of epileptic origin. CONCLUSIONS: The results of our case-control and longitudinal studies point to the conclusion that TGA and TIA do not share the same etiology. Since half of our patients had a precipitating event in their history, it is reasonable to hypothesize that spreading depression may play a role in TGA. The significant positive association between migraine and TGA may support this hypothesis. Epilepsy may mimic TGA in a minority of cases.

Actuarial Analysis↗
PubMed1995

Acute encephalopathy and polyneuropathy after disulfiram intoxication.

A chronic alcoholic who had ingested a very high dose of disulfiram (29 g over a 1-week period) without simultaneous alcohol intake developed an acute encephalopathy and a severe flaccid tetraparesis that worsened over the course of several days, even after the intake of the drug had stopped. Recovery was both slow and incomplete. One year after intoxication, the patient still had distal weakness in the arms and legs, and hypesthesia in the hands and feet.

Adult↗
PubMed1993

Increased density in the middle cerebral artery by nonenhanced computed tomography. Prognostic value in acute cerebral infarction.

In order to consider the prognostic value of hyperdensity of the middle cerebral artery (MCA), we studied retrospectively the medical records of 80 consecutive patients with the diagnosis of ischemic stroke who underwent a non-enhanced computed tomography no longer than 24 h after the onset of the symptoms. To determine the mortality and disability, a follow-up of 30 days was obtained. Mortality does not differ significantly in acute ischemic stroke patients with and without increased density of MCA. When disability, calculated with the Rankin scale, is considered, the two groups are different since patients with hyperdensity of the middle cerebral artery (MCA) have a significantly worse outcome. The two groups do not differ for age, sex, the presence of atrial fibrillation, hypertension, diabetes, myocardial infarction and/or angina, and these factors do not influence the prognosis being equally present in the dead and in the survivors. In the multivariate discriminant analysis with stepwise variable selection, the dense MCA sign was significantly correlated either to mortality or to disability, along with atrial fibrillation, age and diabetes. We conclude that the dense MCA sign can be a useful prognostic factor in the early phase of ischemic stroke.

Aged↗
PubMed1991

Hyperglycemia at ischemic stroke onset as prognostic factor.

To find out whether the high blood glucose values sometimes found in the first stage of ischemic stroke have any prognostic value, we considered 76 patients hospitalized within 24 h of an acute cerebral infarction, documented by CT brain scan and/or necropsy, whose fasting blood glucose was recorded before any treatment was given. The patients were sorted into 3 groups: diabetics, normoglycemic non-diabetics and hyperglycemic nondiabetics. On the CT findings cases with large cortical and/or subcortical infarcts were analyzed separately from those with lacunar infarcts. The clinical symptoms on admission proved to be more severe (p less than 0.02) and 30-day mortality higher (p less than 0.02) among the hyperglycemic non-diabetics, who also showed a highly significant (p less than 0.00001) preponderance of large cortical and subcortical infarcts over lacunar infarcts. Multivariate analysis, which took account of variables of known relevance to the prognosis of cerebral infarction (age, sex, arterial hypertension, severity of the clinical pattern, type of brain lesion), confirmed the statistically discriminant power, in terms of mortality, of belonging to the hyperglycemic nondiabetic group. The results of the study confirm that hyperglycemia at stroke onset in nondiabetic patients is an adverse prognostic factor and suggest that it may be a reaction to stress, depending on the size of the infarcted area.

Adult↗
PubMedDate not supplied

[The electroencephalogram and lacunar infarcts].

The authors compare the conventional EEG of 16 patients with lacunar infarct, 18 patients suffering from subcortical infarct and 59 patients suffering from cortico-subcortical infarct, all confirmed by CT scan. They remark that while among patients with single or multiple lacunar infarct, 62% of the EEG turned out to be normal and 31% showed unilateral abnormalities, among those suffering from subcortical and cortico-subcortical infarct the EEG was normal only in 14% and showed unilateral abnormalities or focal alterations in 74% of the patients (chi square = p less than 0.01). According to these results the authors discuss the EEG's value in the differential diagnosis of lacunar infarcts and the influence on prognosis and on the therapeutical and diagnostic approach of these patients.

Aged↗
PubMedDate not supplied

[The hematocrit and atherothrombotic cerebral infarcts].

The authors compare the hematocrit values of 131 patients suffering from an acute cerebral atherothrombotic infarct, confirmed by CT scan, with those of 165 controls of the same age and sex. Both the analysis of the average by the Student's t test and the comparison between the distribution of frequencies by the chi square test, point out that hematocrit is significantly higher (p less than 0.001) in infarcts than in controls. Dividing patients according to CT scan (negative, lacunar infarct, cortical and/or subcortical infarct), no significant difference in hematocrit levels among the three groups is noticed. The authors confirm the positive association between hematocrit and atherothrombotic cerebral infarct and discuss the possible implications in the prevention and the therapy of cerebral ischemic stroke.

Blood Viscosity↗