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Biomedical subjects

Mario Manfredi

Publications and source records attributed to Mario Manfredi.

At least 19 recordsLinked to original sources
PubMed2006

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

BACKGROUND: Muscle-eye-brain disease is a congenital muscular dystrophy with eye and brain involvement due to POMGnT1 mutations. OBJECTIVE: To describe the clinical and molecular features of 3 Italian patients with POMGnT1 mutations. DESIGN: Case reports. PATIENTS: One patient had muscle and brain abnormalities without eye involvement. Two patients had a classic muscle-eye-brain disease phenotype with different levels of clinical severity. RESULTS: Brain magnetic resonance imaging showed cortical malformation and posterior fossa involvement. Immunofluorescence for glycosylated alpha-dystroglycan performed on muscle biopsy specimens demonstrated an absent signal in 1 patient and reduced staining in 2 patients. Molecular analysis identified 5 mutations, 2 of which are novel. CONCLUSION: This article adds to what is known about the genotype-phenotype correlation and expands our awareness of the clinical spectrum associated with POMGnT1 mutations.

Adult↗
PubMed2006

Status epilepticus in a patient with fragile X syndrome: electro-clinical features and peri-ictal neuroimaging.

Fragile X syndrome (Fra-X) is a common cause of mental retardation that can be associated with partial epilepsy characterized by a variety of electro-clinical features. A wide spectrum of interictal activities are reported, although no data regarding ictal EEG activity have as yet been published. Drug-resistant seizures are uncommon, and the occurrence of clustering seizures or status epilepticus has only been reported anecdotally. We describe a Fra-X patient with refractory partial epilepsy related to a malformation of cortical development who experienced a partial status epilepticus that was well documented by video-EEG and MRI. We report the electro-clinical features and peri-ictal neuroimaging data.

Adolescent↗
PubMed2005

Symptoms in focal sensory seizures. Clinical and electroencephalographic features.

PURPOSE: Aura is a brief subjective symptom that may represent the initial manifestation of a partial epileptic seizure with objective signs or constitute the entire epileptic attack (focal sensory seizure (FSS)). We studied the electro-clinical features of FSSs recorded in 28 patients. METHODS: Using long-term surface video-EEG recordings, we examined 28 patients (from a consecutive series of 64) with stereotyped FSSs and complex partial seizures (CPS) preceded in at least one instance by identical subjective manifestations (overall 255 FSSs and 39 CPS were recorded). FSSs were subdivided according to the type of sensation into somatosensory, visual or oculosensory, viscerosensory, experiential, cephalic and diffuse warm sensations. The EEG discharges accompanying FSSs were examined by two of the authors either blinded as to the type and timing of the seizure, or unblinded, i.e. after receiving complete clinical information including timing of the patient's warning. RESULTS: The ictal pattern accompanying FSSs was identified blind in 13 patients and unblind in 8 patients. In seven patients, the ictal discharge remained undetected. In the cases with recognizable ictal abnormalities, two main patterns could be distinguished, static and dynamic. FSSs whose ictal discharge could be recognized by blind EEG examination more frequently consisted of somatosensory and visual or oculosensory manifestations, and the discharge generally involved the centro-parieto-occipital regions. The ictal discharge of viscerosensory and experiential FSSs more easily remained undetected; when identified, it generally involved the fronto-temporal regions. CONCLUSIONS: FSSs are often accompanied by ictal abnormalities recognizable on surface EEG. A thorough knowledge of their EEG accompaniments may be a useful diagnostic aid in patients with partial epilepsy.

Adult↗
PubMed2005

Genital and sexual manifestations in drug-resistant partial epilepsy.

Genital and sexual manifestations represent rare clinical phenomena during or after focal seizures. The semiology of these types of automatisms is controversial. In particular, it is unclear whether temporal or frontal structures are involved in their generation and whether these clinical manifestations have a potential lateralizing value. In this view, from a population of 212 consecutive patients with drug resistant focal epilepsy referred to us for presurgical assessment, we retrospectively identified 24 patients with genital ictal manifestations. We evaluated the incidence of these behaviours, the clinical semiology, the associated symptoms/signs with the corresponding ictal EEG findings and their potential role in lateralizing the epileptogenic zone. Our results indicate that ictal genital automatisms are possible in seizures originating from temporal lobe and they cannot be attributed exclusively to frontal lobe seizures. In particular, the most frequent genital automatisms consist in subtle phenomena while hypermotoric behaviour, such as pelvic rhythmic movements are quite rare. No lateralizing value for genital automatisms was disclosed.

Adolescent↗
PubMed2005

Clinical experience with levetiracetam in idiopathic generalized epilepsy according to different syndrome subtypes.

Clinical experience in open-label studies and anectodal reports suggest that levetiracetam is effective in generalized epilepsy. In this open-label prospective study, 19 patients (3 men, 16 women) affected by idiopathic generalized epilepsy were followed for at least 6 months following the introduction of levetiracetam. Patients were categorized according to syndrome subtype: juvenile myoclonic epilepsy (8), juvenile absence epilepsy (5), childhood absence epilepsy (4), and eyelid myoclonia with absences (2). Eleven patients received levetiracetam as monotherapy, eight as add-on therapy. Effectiveness was demonstrated in 18 patients: 13 became seizure-free (five juvenile myoclonic epilepsy, five juvenile absence epilepsy, three childhood absence epilepsy), and five achieved significant reductions in seizure frequency (three juvenile myoclonic epilepsy, one childhood absence epilepsy, one eyelid myoclonia with absences). Only one patient experienced no change in seizure frequency (eyelid myoclonia with absences). Clinical improvement was accompanied by EEG abnormality suppression or reduction. Levetiracetam was well tolerated; no patient reported side-effects.

Anticonvulsants↗
PubMed2004

Impairment of individual finger movements in patients with hand dystonia.

We investigated finger movements in patients with hand dystonia to compare the kinematics of repetitive individual and non-individual finger oppositions. We used an optoelectronic motion analysis system to record movements in 3-D space, and recorded three 5-second trials for each task, counting how many finger oppositions subjects carried out during each trial, and measured the duration and amplitude of flexions, extensions, and pauses. During tasks, normal subjects and patients carried out finger flexions faster than extensions, and invariably they paused longer before extension than before flexion. Patients were slower and paused longer than controls during both individual and non-individual oppositions. During individual finger movements, patients were disproportionately slow during extension and pause before extension. Patients with hand dystonia perform finger movements abnormally; they are affected predominantly during individual oppositions. This finding reflects the finer cortical control needed to promote and sustain this highly fractionated type of motor output, and points toward underactivity of the primary motor cortex in dystonia.

Adult↗
PubMed2004

Postoperative EEG and seizure outcome in temporal lobe epilepsy surgery.

OBJECTIVE: To assess the prognostic value of scalp electroencephalogram (EEG) after epilepsy surgery, we investigated whether postoperative EEG abnormalities (interictal epileptiform discharges, IED; interictal slow activity, ISA) were associated with seizure outcome and other patient characteristics after resective surgery in patients with temporal lobe epilepsy (TLE). METHODS: Sixty-two patients with medically refractory TLE who underwent surgery were studied. Patients were categorized according to etiology (mesiotemporal sclerosis vs. tumors/cortical dysplasias); extent of surgical resection (extensive vs. limited); and amount of preoperative IED on wake EEG (oligospikers, <1 IED/h, vs. spikers). Patients were also classified as seizure-free (SF) or having persistent seizures/auras (not-SF) during follow up visits 1 month and 1 year after surgery. Preoperative 60-min interictal EEGs were evaluated for IED and ISA, and compared to postoperative wake EEGs. RESULTS: Seizures/auras persisted in 16/62 (25.8%) patients at 1 month and in 8/62 (12.9%) at 1 year follow up. ISA was not significantly related to outcome. Of 42 patients with EEG negative for IED at 1 month, 4 were not-SF; at 1 year, one of 44 such patients was not-SF. IED was significantly associated with seizure/aura persistence in patients categorized as mesiotemporal sclerosis and with extensive surgery. Oligospikers and spikers on preoperative EEG showed no differences in the postoperative seizure outcome, excellent in both cases; moreover, the presence of postoperative IEDs indicated auras/seizures persistence apart from the preoperative EEG spike frequency. CONCLUSIONS: Our study showed that the presence of IED of postoperatve EEG strongly indicates seizure/aura persistence. Therefore, serial EEGs should be included in postoperative follow up schedules as a crucial tool in evaluating seizure outcome.

Adolescent↗
PubMed2004

Ictal heart rate increase precedes EEG discharge in drug-resistant mesial temporal lobe seizures.

OBJECTIVE: Heart rate (HR) changes, mainly tachycardia, are often observed during seizures originating from the temporal lobe. The aim of this study was to analyze the role of ictal HR changes in localizing both mesial and lateral temporal lobe epilepsy (TLE) in a group of 68 patients. The influence of the gender and the side of epilepsy on HR modulation was also evaluated. METHODS: Ictal HR was recorded during prolonged Video-EEG monitoring performed in 68 patients affected by drug-resistant TLE during a non-invasive pre-surgical protocol. According to the electro-clinical correlation, obtained by video-EEG monitoring, one hundred-thirteen seizures (n=113) and one hundred-forty-four auras (n=144) were identified and included in the study. Furthermore, the electro-clinical correlation allowed the classification of all the epileptic events (seizures and auras) as having mesial or lateral origin, based on the temporal lobe seizure onset zone. Ictal HR was calculated with respect to the R-R waves, and assessed from 15 sec (s) before (T(- 15)) to 15 s after (T(+15)) the time of EEG seizure onset (T(0)). RESULTS: We observed a high incidence (92%) of ictal HR increase in TLE seizures. When the ictal EEG indicated a seizure onset from the mesial temporal structures, the onset of ictal HR increase preceded by about 5 s the EEG ictal onset (SD+/-18.4), whereas the onset of HR increase coincided with the onset of EEG discharges (SD+/-14.8) when the ictal EEG indicated the onset of seizures from the lateral temporal structures. No significant differences were found between male and female patients; and between right and left TLE. CONCLUSIONS: Our findings show that ictal HR increase, preceding the onset of the EEG discharge, is associated with ictal EEG seizure pattern defining temporal lobe seizures originating from the mesial temporal lobe structures; this association suggests that the HR changes may be coupled to the functional impairment of neural circuits involved in sympathetic cardiovascular regulation, in the mesial temporal lobe structures. Further studies investigating the relationship between intracranial EEG monitoring and ECG recording are worthwhile, to confirm our results and to give further indications on the pathogenesis of ictal HR abnormalities.

Adolescent↗
PubMed2004

Scotopic threshold response changes after vigabatrin therapy in a child without visual field defects: a new electroretinographic marker of early damage?

Vigabatrin (VGB) has been widely used in patients affected by drug-resistant epilepsy and West syndrome. Following reports of visual field loss associated with vigabatrin therapy, some authors have investigated retinal electrophysiologic variables to identify early electrophysiologic markers and pathogenetic mechanisms of retinal damage. There are no previous reports of a scotopic threshold response (STR) reduction associated with vigabatrin therapy. A 13-year-old male child was submitted to a complete electroretinographic study before and after the start of vigabatrin therapy. Of the electroretinographic responses analyzed, only the scotopic threshold response was altered. The scotopic threshold response is a corneal-negative wave in the electroretinogram (ERG) of a fully dark-adapted eye. In cat, this response has been shown to be mediated by K+ spatial buffer currents that flow from proximal to distal retina in retinal glia as a result of elevated concentration of K+ in proximal retina following depolarization of local neurons in response to light onset. The prospective nature of the study in a previously untreated patient on vigabatrin monotherapy allows us to speculate on the underlying pathogenetic mechanisms and level of action of vigabatrin therapy-related retinal damage. If the predictive value of the scotopic threshold response changes is documented, this ERG response could be used to perform a preliminary evaluation of drugs, which modify gamma-aminobutyric acid (GABA) receptors and/or GABA levels.

Adolescent↗
PubMed2004

Dental arch analysis system.

The purpose of our research is to describe a computerized method, which enables orthodontists and researchers to analyze variation of dental arch form and dimension. The analysis system is composed of two independent parts: the database, where the images of scanned dental casts are stored, and the software. The operator uses the software to identify some landmarks on dental cast images. Corresponding distances are calculated (interincisive, intercanine and intermolar widths and the curve axis). Then the software algorithms calculate and draw the curves passing trough the selected landmarks (conics, catenary, cubic spline and polynomial curves). In the chosen curves the arch length is measured. The dental cast data, recorded at different times of the subject's life or in different steps of orthodontic treatment, are compared in order to evaluate the change in dimension (arch length and width) and form (shape). The statistical analysis of the data evaluates the variation in form and in dimension separately. The shape change is defined by Euclidean Distance Matrix Analysis (EDMA) and Bootstrap analysis. The computerized method allows orthodontists and researches to evaluate the variation in dimension and form of the dental arch in un-treated subjects and-or orthodontic patients over time. After the analysis of a large sample of patients or subjects, information concerning changes in dental arch dimension and form can be added to previous studies of other authors, distinguishing variation during and after orthodontic treatment, during growth or aging.

Cephalometry↗
PubMed2003

Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism.

Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a genetically heterogeneous disorder. Some patients exhibit mutations in the leucine-rich glioma inactivated (LGI1) gene. In an ADPEAF family, a novel mutation in the Lgi1 signal peptide is predicted to interfere with the protein cell sorting, resulting in altered processing. This finding suggests a loss-of-function mechanism for LGI1 gene mutations causing ADPEAF even if other mechanisms cannot be ruled out.

Acoustic Stimulation↗
PubMed2003

Impairment of individual finger movements in Parkinson's disease.

By analyzing the kinematics of repetitive, constant-amplitude, finger oppositions, we compared the impairment of individual and nonindividual finger movements in patients with Parkinson's disease. In one task, subjects tapped only the index finger against the thumb (individual oppositions); in the other task, they tapped all four fingers together against the thumb pad (nonindividual oppositions). We used an optoelectronic motion analysis system to record movements in three-dimensional space and recorded three 5-second trials for each task. We counted how many finger oppositions subjects performed during each trial and measured the duration and amplitude of the flexions and extensions. We also calculated the duration of the pauses after flexion and extension. We assessed the deterioration of motor performance in patients by investigating the changes in speed and amplitude with task completion. During both tasks, normal subjects and patients performed finger flexions faster than extensions, and they invariably paused longer after flexion than after extension. Patients performed individual and nonindividual finger movements slowly and with reduced amplitude. Patients were disproportionately slow during flexion and in switching from flexion to extension. Movement slowness increased as finger oppositions progressed but predominantly when patients had to move fingers individually. In conclusion, in patients with Parkinson's disease, the motor performance deteriorated with task completion more during individual than during nonindividual finger movements. Parkinson's disease, therefore, impairs individual finger movements more than gross hand movements. This distinction reflects the finer cortical control needed to promote and sustain this highly fractionated type of motor output.

Analysis of Variance↗
PubMed2003

Dual dopamine agonist treatment in Parkinson's disease.

We studied the effectiveness of cabergoline as an adjunct in patients with early Parkinson's disease receiving another dopamine agonist (pramipexole or ropinirole), at the maximal permitted dose. The study enrolled 47 patients: 35 had motor fluctuations and were receiving a dopamine agonist with levodopa; and 12, without motor fluctuations, were receiving a dopamine agonist without levodopa. These medications had in all cases failed to achieve adequate symptom control. In the 35 patients with motor fluctuations, when cabergoline was added to therapy, the time spent in the OFF period decreased by 65.6% (from 3.14+/-1.11 to 1.08+/-1.07 hours p<0.0001); and the Unified Parkinson's Disease Rating Scale (UPDRS) motor score decreased by 19.24% (from 41.68+/-12.6 to 33.66+/-10.22; (p<0.0001) during the OFF condition, and by 7.11% (from 17.01+/-6.63 to 15.8+/-7.22; p<0.001) during the ON condition. Nocturnal akinesia improved in all the patients except one. In the 12 patients without motor fluctuations, when cabergoline was added, the UPDRS score improved by 34.4% (from 23.5+/-5.3 to 15.5+/-4.7). This open study shows that dual dopamine agonist therapy can be useful in the symptomatic treatment of patients with early or more advanced Parkinson's disease receiving therapy with or without levodopa.

Adult↗
PubMed2003

Pathophysiology of tics and Tourette syndrome.

Tics are involuntary movements that can affect one or more muscles producing simple or complex movements. Blink reflex and startle reflex studies disclose an increased excitability of brainstem interneurons. Analysis of voluntary movement shows that when advance visual information is reduced, patients with tics and Tourette syndrome become progressively slower in completing motor sequences. Sensorimotor integration is abnormally processed. Studies of the contingent negative variation demonstrate abnormalities of movement preparation and the investigation of premotor potentials shows that in some patients tics are not preceded by a normal premotor potential. Magnetic stimulation studies demonstrate an increased excitability of cortical motor cortex. Functional MRI, PET and SPECT studies show abnormal activation of cortical and subcortical areas. Dysfunction of basal ganglia-thalamo-cortical projections affects sensorimotor, language and limbic cortical circuits, and may explain why patients with Tourette syndrome have difficulty in inhibiting unwanted behaviors and impulses.

Animals↗
PubMed2003

Psychomotor development and general movements in offspring of women with epilepsy and anticonvulsant therapy.

UNLABELLED: While the role of antiepileptic drug (AED) therapy in teratogenesis has widely been investigated, there are few prospective studies on later postnatal development in offspring of epileptic women in utero exposed. The aim of this study was a prospective investigation of the psychomotor development in a selected population of infant born to women with epilepsy on AED therapy during pregnancy. PATIENTS AND METHODS: Children were assessed at various times until 30 months of age by general movement (GMs) observation (at 7 days and 4 and 13 weeks), traditional neurologic examination (at 7 days and 4 and 13 weeks, 6, 9 and 12 months) and Brunet-Lezine (B-L) administration (at 30 months). We present the preliminary results of our study conducted on 11 children. RESULTS: Psychomotor delay in children was confirmed by traditional neurological examinations scores at 7 days, 4 weeks, 13 weeks and 6 months and by B-L score at 30 months. Between 9 and 12 months of age, traditional neurologic examination became "silent". GM assessment was found to be a better predictor of psychomotor development. In fact, GM analysis, particularly at 4 weeks, was strongly correlated with the Brunet-Lezine score at 30 months. In conclusion, on the basis of these data we suggest a psychomotor delay in the offspring of epileptic women and that GMs and neurologic evaluation provide complementary information concerning psychomotor development and later outcome of these children.

Adult↗