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Biomedical subjects

R Mutani

Publications and source records attributed to R Mutani.

At least 37 records · Page 2Linked to original sources
PubMed2000

Interferon beta neutralizing antibodies in multiple sclerosis: neutralizing activity and cross-reactivity with three different preparations.

The presence and titer of neutralizing antibodies (NABs) was evaluated by an antiviral biological assay in 387 samples of 111 multiple sclerosis (MS) patients treated with one of the three commercial preparations of interferon beta (IFNbeta). Fifty NAB positive samples were found in 19 patients: 11 treated with IFNbeta-1b (Betaferon(R)) and eight with IFNbeta-1a (five with Avonex(R) and three with Rebif(R)). All the 38 NABs+ samples of patients treated with IFNbeta-1b cross-reacted with IFNbeta-1a of both commercial types. The median level of neutralizing units (NUs) of the sera was higher when tested against IFNbeta-1a than against IFNbeta-1b (p=0.000 vs. Avonexr(R) and p=0.003 vs. Rebif(R)). In line with these data, the NABs+ sera of patients treated with IFNbeta-1a cross-reacted with IFNbeta-1b and the level of NUs were lower when tested against IFNbeta-1b than against IFNbeta-1a (p=0.003). The different amount of NUs against IFNbeta types 1a and 1b could be due to the presence of aggregates in the IFNbeta-1b preparation. The different levels of cross-reactivity of NABs could reduce the bioavailability and therapeutic efficacy of IFNbeta in NABs+ patients switching from IFNbeta-1b to IFNbeta-1a.

Adjuvants, Immunologic↗
PubMed1999

Transforming growth factor beta1 (TGFbeta1) mRNA level correlates with magnetic resonance imaging disease activity in multiple sclerosis patients.

Eight relapsing-remitting multiple sclerosis (MS) patients were tested for the level of transforming growth factor beta1 (TGFbeta1) mRNA in peripheral blood mononuclear cells every 15 days for 6 months. Disease activity was evaluated every 4 weeks by magnetic resonance imaging (MRI) and neurological examination. An inverse correlation was found between the level of TGFbeta1 mRNA and MRI disease activity. The level of TGFbeta1 mRNA predicted the presence of disease activity in the scans performed 2-4 weeks later with high sensitivity (88%) and specificity (87.5%) suggesting that TGFbeta1 mRNA quantification could be an indicator of disease activity in MS.

Adult↗
PubMed1999

Quantitative PCR reveals increased levels of tumor necrosis factor-alpha mRNA in peripheral blood mononuclear cells of multiple sclerosis patients during relapses.

Quantification of tumor necrosis factor-alpha (TNF-alpha) mRNA in peripheral blood mononuclear cells (PBMC) could provide information about disease activity in multiple sclerosis (MS); however, specific competitive methods must be utilized. A competitor cDNA, having the same sequence of the target TNF-alpha cDNA, a part from an internal 49-bp deletion, was generated and used to set-up a quantitative polymerase chain reaction (PCR) to quantify mRNA of TNF-alpha. Competitor and target were co-amplified using the same primers. The rates of generation of competitor and target TNF-alpha conformed closely to the prediction of the mathematical model, and a high level of accuracy and reproducibility was achieved. The method was applied to quantify TNF-alpha mRNA in PBMC of normal subjects and multiple sclerosis (MS) patients both during clinical relapses and remissions. A statistically significant higher level of TNF-alpha mRNA was detected during relapses than during remissions. High levels of TNF-alpha mRNA were found in 44% of relapses and 12% of samples during remissions, suggesting that TNF-alpha mRNA synthesis is abnormal in MS.

Adult↗
PubMed1998

Chronic post-traumatic headache associated with minor cranial trauma: a description of cephalalgic patterns.

We studied a group of 93 patients who had not previously suffered headache and who were consecutively admitted to the Emergency Department of the hospitals of Novara and Borgomanero, Italy because of a cranial trauma definable as minor according to the current International Headache Society (IHS) criteria. Two weeks after admission, all patients underwent a semi-structured interview which revealed that 24 (25.8%) had headache; 21 of these (22.5% of the original 93 patients) also had headache when they underwent a second interview eight weeks after the traumatic event. These 21 patients were diagnosed as having chronic post-traumatic headache associated with minor cranial trauma (5.2.2 of the IHS classification), and the prevalent clinical pattern of headache presentation was examined with the aim of attributing the fourth IHS classification code number. Eighteen of the 21 patients were found to have a tension-type pattern (5.2.2.2), and the remaining three had migraine (5.2.2.1); none had cluster headache (5.2.2.3). These data demonstrate a large prevalence of tension-type headache in patients with class 5.2.2 post-traumatic headache, and confirm the results of previously published studies that were not based on the diagnostic criteria of the current classification.

Adult↗
PubMed1997

Focal subcortical reflex myoclonus. A clinical and neurophysiological study.

BACKGROUND: Patients with progressive myoclonus epilepsy or progressive myoclonus ataxia often show a focal myoclonus, both spontaneous and reflex to somatosensory stimuli. Myoclonus is time-locked to large ("giant") electroencephalographic potentials. Previous authors have classified it as a "cortical reflex myoclonus," with the assumption that it invariably arises from an abnormal corticifugal neuron discharge. OBJECTIVE: To identify the myoclonus source, using various neurophysiological techniques, in 5 patients with progressive myoclonus epilepsy/ataxia. METHODS: Extensive investigations were performed to ascertain the clinical diagnosis. Electrophysiologically, the main method was transcranial cortical stimulation and motor evoked potential measurement. The latency and amplitude of the spontaneous myoclonus and the premyoclonus cortical spike, the reflex myoclonus (C-reflex), and the giant somatosensory evoked potential were also analyzed. The behavior of giant somatosensory evoked potentials and C-reflexes were then studied on single, consecutive trials. Finally, the central motor pathway excitability and its changes attributable to a prior somatosensory input were determined. RESULTS: The motor evoked potential studies showed that the expected corticomuscular conduction time (23 milliseconds) of the myoclonic electromyographic potential was longer than that previously suspected. Considering this, the premyoclonus cortical spike and the giant somatosensory evoked potential were so close to the spontaneous/reflex jerks that they could not reflect a cortical myoclonus source. In 4 patients, the C-reflex latency (< 41.6 milliseconds) was shorter than that often reported in previous studies. The giant somatosensory evoked potential and the C-reflex showed no simple cause-effect link. Motor pathways were hyperexcitable only in response to somatosensory inputs. CONCLUSIONS: The data pointed to a cortical myoclonus origin only in the patient whose C-reflex had the longest latency (44 milliseconds). In the remaining patients, a subcortical source was far more likely. In this group of patients, cortical stimulation disclosed a new myoclonus variety, for which the term focal subcortical reflex myoclonus is proposed; it mimics cortical reflex myoclonus but has a shorter latency.

Action Potentials↗
PubMed1997

A case-control study on alcohol and seizures: study design, protocol, and data collection. The ALCE (Alcohol and Epilepsy) Study Group.

We designed a multicenter case control study to evaluate whether chronic alcoholism and alcohol are risk factors for developing a first generalized tonic-clonic epileptic seizure. Cases were 278 patients (92 women, 186 men), with a first generalized tonic-clonic seizure (either idiopathic or symptomatic), matched to 556 controls for center, sex, age, and weekday of the seizure. Information on risk factors was obtained through a questionnaire. This paper focuses on the study design (selection of cases and choice of controls), the validity of the instruments for data collection, and the strategies of study conduction (interviews, use of proxy respondents). Inter-rater agreement was excellent for drinking status, patterns of drinking, and broad indicators of consumption (yes/no). Agreement was variable for the number of servings/week, but was excellent (r = 0.91) for a summary of daily alcohol intake.

Adult↗
PubMed1997

Alcohol use is a risk factor for a first generalized tonic-clonic seizure. The ALC.E. (Alcohol and Epilepsy) Study Group.

We performed a multicenter case-control study to estimate whether chronic alcoholism and alcohol consumption are risk factors for developing a first generalized tonic-clonic seizure (GTCS). We studied 237 first-seizure patients (158 men, 79 women) matched to 474 hospital controls for center, sex, age (+/-5 years), and weekday of the seizure. The risk of first GTCS in alcoholics was greater than in non-alcoholics for men (odds ratio, 6.8; 95% confidence limits, 3.6-13.0) and women (6.8, 1.6-32.6). The odds ratio (both sexes) was 1.2 (0.8-1.8) for an average daily intake of absolute alcohol of 1 to 25 g/day and rose with the amount of alcohol consumed daily: 1.3 (0.8-2.1) for 26 to 50 g/day, 3.0 (1.7-5.4) for 51 to 100 g/day, 7.9 (2.9-21.9) for 101 to 200 g/day, and 16.6 (1.9-373.4) for >200 g/day. Our study provides evidence of a powerful association between alcohol use, alcoholism, and the first GTCS.

Alcohol Drinking↗
PubMed1996

Reassessment of the specificity of lens opacities in myotonic dystrophy.

Cataract has been considered for a long time one of the major indicators of the presence of the mutated myotonic dystrophy (DM) gene in asymptomatic relatives of DM patients. However, some recent studies show that not all cases of cataract typical of DM are associated with the disease even in members of DM families. In order to determine the frequency of lens opacities characteristic of DM in the general population and to evaluate the specificity of lens anomalies for detection of the DM premutation, we screened a sample of 1,400 random individuals for the presence of 'myotonic cataract'. Ten individuals were found with the typical lens opacities and no neuromuscular signs of DM; molecular analysis of the DM mutation showed that they all carried two normal alleles. Our data allow to conclude that bilateral cortical iridescent and posterior cortical lens opacities cannot be considered a marker of the presence of the DM premutation in the general population.

Adult↗
PubMed1995

Antiepileptic drugs and mechanisms of epileptogenesis. A review.

This paper analyzes the effect of conventional (phenobarbital, phenytoin, carbamazepine, ethosuximide, valproate) and some novel (vigabatrin, lamotrigine, felbamate) AEDs on some basic mechanisms involved in focal and/or generalized epileptogenesis (Na+ voltage-dependent channels and sustained repetitive firing, L-, N-, and T-type Ca2+ currents, GABA-mediated inhibition, Glu/Asp-mediated excitation, after-hyperpolarization). According to this analysis, AEDs can be divided into two main categories, those with only one specific action and those with multiple actions. A speculative correlation is proposed between AED effects on the mechanism of epileptogenesis and their known clinical effect on seizures.

Animals↗
PubMed1995

Parkinson's disease rigidity: EMG in a small hand muscle at "rest".

The presence of excessive EMG at "rest" might be an important factor in the genesis of Parkinson's disease (PD) rigidity, and we studied it in the first dorsal interosseous muscle (FDI) of 8 idiopathic PD patients. We had 8 age- and sex-matched normal controls. In the PD group, the average area of the surface EMG at "rest" correlated significantly with the clinical evaluation of rigidity and remained abnormally enhanced for 10-15 min after a command to "relax." Later, it tended to decline, but its entity was still much greater than in controls. The EMG "at rest" consisted of unwilled motor unit (MU) firing. A larger MU number was recruited in patients than in controls at "rest." MU rate coding was similar in both groups. Eventually, patients could get periods of EMG silence which, however, were interrupted by short EMG bursts, even if there was no muscle stretch. These bursts were interpreted as residual fragments of the original excessive EMG at "rest." MUs first recruited during such bursts showed high, but not total, overlapping with those first recruited by a gentle voluntary contraction or by a weak transcranial magnetic stimulus to motor cortex. We conclude that EMG activity at "rest" was made up of the discharge of low-threshold MUs, with a recruitment order similar to that resulting from descending cortico-spinal volleys. However, we cannot exclude other possible input sources to the alpha-motoneurones at "rest."

Aged↗
PubMed1995

Problems arising in correlating clinical and molecular data in myotonic dystrophy.

The number of copies of CTG trinucleotide repeats in the myotonic dystrophy gene correlates to a certain degree with the clinical symptoms in the patient. Routine molecular analysis of myotonic dystrophy is performed on peripheral blood cells detecting the size of the expansion in leukocytes. However, in some cases somatic mosaicism is responsible for the presence of differently sized myotonic dystrophy alleles in different tissues of the same affected individual, complicating diagnosis and prognosis. Here we report two cases in which the correlation between molecular and clinical analysis performed with standard procedures posed some interpretative problems. The first individual was affected by an atypical clinical picture of myotonic dystrophy, the severity of which was not correlated with the low number of triplet repeats detected in his leukocyte DNA. The second case illustrates a prognostic problem in the presence of a low degree expansion in leukocytes. These examples outline the limits of standard molecular and clinical analysis in myotonic dystrophy.

Adult↗
PubMed1994

Plasma amino acid alterations in idiopathic generalized epilepsy: an investigation in probands and their first-degree relatives.

Twenty-two plasma amino acids were determined by means of ion-exchange chromatography in 16 previously untreated patients with generalized idiopathic epilepsy and in some of their first-degree relatives (26 subjects), and the results were compared with those obtained from a group of 50 healthy controls. The patients were subsequently treated with valproic acid for one month and then reexamined. In the epileptic subjects, statistical analysis showed significant alterations in the plasma levels of a group of amino acids, including the four associated with neuro-transmission (aspartate, glutamate, glycine, taurine); aspartate, glutamate and glycine levels were also altered in the first-degree relatives. Valproic acid therapy did not affect amino acid levels. If further confirmed, these alterations might be considered possible neurochemical markers of epilepsy.

Adult↗
PubMed1994

Protirelin tartrate (TRH-T) in upper motoneuron syndrome: a controlled neurophysiological and clinical study.

This randomised, single-blind, placebo-controlled study involved 20 patients with chronic upper motoneuron syndrome due to ischemic cerebrovascular lesions, selected in order to ensure the greatest possible homogeneity in terms of the severity of the syndrome. All of them were treated with protirelin tartrate 4 mg/die i.m. The study included semiquantitative clinical evaluations of neurological examinations, with particular attention being paid to weakness and spasticity. These were accompanied by neurophysiological evaluations (F-waves, magnetic motor evoked potentials). Extended biohumoral investigations of possible side effects were also carried out. The results indicate a slight but statistically significant absolute improvement in spasticity and muscular strength following protirelin tartrate, especially in the lower limbs; at the same time, the drug also proved to be capable as favourably modifying the response of the biceps femoris muscle to transcranial magnetic stimulation (reappearance, increased amplitude and a reduction in the threshold of motor evoked potentials). The drug was generally well tolerated.

Aged↗
PubMed1994

Origin of a regressed myotonic dystrophy allele.

A new case of regression of the CTG copy number in the myotonic dystrophy allele was observed in a 7 year old boy. His affected father had an expanded allele of about 100 repeats in his lymphocyte DNA while the child showed a 60 repeat allele, of the same size as the present in the grandfather. Analysis of the father's sperm DNA allowed us to detect an expanded fragment of approximately the same size (62 repeats) as that present in the child's and grandfather's lymphocytes. This fragment was not detectable in the father's lymphocytes. Thus the regression is constitutive in the child, being already present in his father's germline. It is therefore likely that the regressed allele is present in all the tissues of the child, allowing a favourable prognosis.

Adult↗
PubMed1992

Neuroborreliosis: a Sardinian case with cerebellar symptoms.

We report the case of a patient long resident in Sardinia in whom the clinical history, neurological symptoms, serological and neuroradiological investigations pointed to the diagnosis of neuroborreliosis. We emphasize the rarity of cerebellar involvement in this disease.

Aged↗
PubMed1992

Menstrual migraine without aura: cortical excitability to magnetic stimulation.

The purpose of the present study was the evaluation of the excitability threshold and the central motor conduction time (CCT) studied by means of electromagnetic cortical stimulation in ten subjects affected by menstrual migraine without aura, both in the ictal and the interictal period. The patients were chosen from among a group of 254 outpatients affected by migraine, diagnosed according to the International Headache Society criteria. The control group consisted of ten healthy female subjects. As far as CCTs were concerned no differences emerged between patients and controls. However in the patient group we found a significant increase in the excitability threshold values, both in the ictal and the interictal period, and in both hemispheres. If confirmed, the increased excitability threshold may be a useful neurophysiological correlate of migraine without aura.

Adult↗