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Biomedical subjects

Roberto Floris

Publications and source records attributed to Roberto Floris.

11 recordsLinked to original sources

Clinical and genetic study of a large SPG4 Italian family.

A novel SPG4 906delT frame-shift mutation in exon 6 was identified in a large Italian family with an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Intrafamilial phenotypic variations observed in the pedigree included spasticity and additional clinical features, such as peripheral sensory-motor neuropathy, cognitive impairment, and urological dysfunction. Severe clinical features were found predominantly in the men who were affected, and there was no statistically significant correlation of disability and time since onset of symptoms, suggesting the existence of other genetic/nongenetic modifier(s), including gender.

Adenosine Triphosphatases↗

Diffusion-weighted MR of the brain: methodology and clinical application.

Clinical diffusion magnetic resonance (MR) imaging in humans started in the last decade with the demonstration of the capabilities of this technique of depicting the anatomy of the white matter fibre tracts in the brain. Two main approaches in terms of reconstruction and evaluation of the images obtained with application of diffusion sensitising gradients to an echo planar imaging sequence are possible. The first approach consists of reconstruction of images in which the effect of white matter anisotropy is averaged -- known as the isotropic or diffusion weighted images, which are usually evaluated subjectively for possible areas of increased or decreased signal, reflecting restricted and facilitated diffusion, respectively. The second approach implies reconstruction of image maps of the apparent diffusion coefficient (ADC), in which the T2 weighting of the echo planar diffusion sequence is cancelled out, and their objective, i.e. numerical, evaluation with regions of interest or histogram analysis. This second approach enables a quantitative and reproducible assessment of the diffusion changes not only in areas exhibiting signal abnormality in conventional MR images but also in areas of normal signal. A further level of image post-processing requires the acquisition of images after application of sensitising gradients along at least 6 different spatial orientations and consists of computation of the diffusion tensor and reconstruction of maps of the mean diffusivity (D) and of the white matter anisotropic properties, usually in terms of fractional anisotropy (FA). Diffusion-weighted imaging is complementary to conventional MR imaging in the evaluation of the acute ischaemic stroke. The combination of diffusion and perfusion MR imaging has the potential of providing all the information necessary for the diagnosis and management of the individual patient with acute ischaemic stroke. Diffusion-weighted MR, in particular quantitative evaluation based on the diffusion tensor, has a fundamental role in the assessment of brain maturation and of white matter diseases in the fetus, in the neonate and in the child. Diffusion MR imaging enables a better characterisation of the lesions demonstrated by conventional MR imaging, for instance in the hypoxic-ischaemic encephalopathy, in infections and in the inherited metabolic diseases, and is particularly important for the longitudinal evaluation of these conditions. Diffusion-weighted MR imaging has an established role in the differential diagnosis between brain abscess and cystic tumour and between epidermoid tumour and arachnoid cyst. On the other hand, the results obtained with diffusion MR in the characterisation of type and extension of glioma do not yet allow decision making in the individual patient. Diffusion is one of the most relevant MR techniques to have contributed to a better understanding of the pathophysiological mechanisms of multiple sclerosis (MS). In fact, it improves the specificity of MR in characterising the different pathological substrata underlying the rather uniform lesion appearance on the conventional images and enables detection of damage in the normal-appearing white and grey matter. In MS patients the ADC or D values in the normal-appearing white matter are increased as compared to control values, albeit to a lesser degree than in the lesions demonstrated by T2-weighted images. In addition, the D of the normal appearing grey matter is increased in MS patients and this change correlates with the cognitive deficit of these patients. Histogram analysis in MS patients shows that the peak of the brain D is decreased and right-shifted, reflecting an increase of its value, and the two features correlate with the patient's clinical disability. Ageing is associated to a mild but significant increase of the brain ADC or D which is predominantly due to changes in the white matter. Region of interest and histogram studies have demonstrated that D or ADC are increased in either the areas of leukoaraiosis or the normal-appearing white matter in patients with inherited cerebral autosomal dominant arteriopathy with subcortical infarcts and stroke or sporadic ischaemic leukoencephalopathy. Diffusion changes might be a more sensitive marker for progression of the disease than conventional imaging findings. In neurodegenerative diseases of the central nervous system such as Alzheimer's disease, Huntington's disease, hereditary ataxias and motor neuron disease, quantitative diffusion MR demonstrates the cortical and subcortical grey matter damage, which is reflected in a regional increase of D or ADC, but also reveals the concomitant white matter changes that are associated with an increase in D or ADC and decrease in FA. In all these diseases the diffusion changes are correlated to the clinical deficit and are potentially useful for early diagnosis and longitudinal evaluation, especially in the context of pharmacological trials.

Brain Diseases↗

Increased brain apparent diffusion coefficient in tuberous sclerosis.

PURPOSE: To evaluate the water diffusivity of normal-appearing white matter (NAWM) in patients with tuberous sclerosis complex compared with that in control subjects. MATERIALS AND METHODS: Diffusion and conventional magnetic resonance (MR) imaging examinations were performed in 18 patients with clinically established tuberous sclerosis complex (10 male and eight female patients; mean age, 20.1 years; range, 12-30 years), as well as in 18 age-matched control subjects (nine male and nine female; mean age, 20.2 years; range, 11-28 years). Apparent diffusion coefficients (ADCs) were generated, and small elliptic regions of interest were manually placed both in perilesional NAWM and in six anatomic locations of NAWM remote from hamartomatous lesions. Perilesional ADCs were compared with those at the same anatomic site on the contralateral side of the brain (generalized linear regression analysis). ADCs from the predetermined sites in patients were compared with those in control subjects (generalized linear regression analysis). RESULTS: Supratentorial ADCs were higher in patients with tuberous sclerosis complex than in control subjects, and statistically significant differences were observed in the occipital white matter, frontal white matter, centrum semiovale, parietal white matter, and corona radiata (for each location, P <.001). Significant increases were also seen in the perilesional NAWM compared with NAWM at the same anatomic locations on the contralateral side (P <.001). Infratentorial ADCs were normal. CONCLUSION: Significant ADC increases were measured in the supratentorial NAWM.

Adolescent↗

Evaluation of anterior pituitary gland volume in childhood using three-dimensional MRI.

BACKGROUND: Three-dimensional MRI (3D-MRI) is a reliable tool for the evaluation of anatomical volumes. Volumetric measurement of the normal anterior pituitary gland in childhood has been performed in the past by 2D-MRI calculations, but has inherent inaccuracies. OBJECTIVE: To obtain accurate normal anterior pituitary gland volume in childhood using 3D-MRI coronal sections. MATERIALS AND METHODS: The anterior pituitary gland was measured using coronal T1-weighted 3D-gradient-echo sequences (section thickness 0.75 mm). The study group was composed of 95 prepubertal children (age range 2 months-10 years) with clinically normal pituitary function and no pituitary or brain abnormalities. RESULTS: A measurement error of 0.2-0.4% was assessed by using a phantom study. Volumetric evaluation of the anterior pituitary gland showed progressive growth of the gland from a mean 131+/-24 mm(3) at 2-12 months, to 249+/-25 mm(3) at 1-4 years and 271+/-29 mm(3) at 5-10 years. CONCLUSIONS: These data may be useful for paediatricians in the evaluation of patients with neuroendocrine diseases, in particular growth hormone deficiency.

Analysis of Variance↗

Calcifying pseudo-tumor of the spine: description of a case and review of the literature.

A case of calcifying pseudo-tumor of the thoracic spine, a rare lesion with tumor-like behavior and a probable inflammatory-reactive origin, is described. The clinical-pathological and neuro-radiological aspects of this lesion are discussed in relation to surgical treatment. In accordance with the other cases reported in the literature, the case observed confirmed the benign behavior of the lesion and the effectiveness of surgical treatment for achieving complete resolution of clinical symptoms without any recurrences, even when removal is only subtotal.

Adult↗

Diffusion-weighted MR imaging in the early diagnosis of periventricular leukomalacia.

Diffusion-weighted imaging (DWI) has been shown to be highly sensitive in detecting acute cerebral infarction, but its use in detecting hypoxic-ischemic encephalopathy (HIE) in neonates is still controversial. Moreover, few reports concern pre-term infants with possible periventricular leukomalacia (PVL). We examined the ability of this technique to detect cerebral changes in the acute phase of PVL. Fifteen MR examinations were performed in 11 pre-term infants (mean age 3.4 days, range 2-6 days). Conventional DWI sequences, apparent diffusion coefficient (ADC) maps, and US obtained in the acute phase were compared. All the neonates underwent US follow-up up to 4 months after delivery; those with suspected PVL also underwent MRI follow-up for up to 2 months. Qualitative and quantitative evaluations were performed to assess the presence of DW changes compatible with PVL. Diffusion-weighted MRI showed signal hyperintensity associated with decreased ADC values in 3 subjects (27%). In these patients conventional MRI sequences were interpreted as normal and US (performed at the same time) as doubtful in 2 and compatible with PVL in 1 subject. The MRI and US follow-up confirmed severe damage in all these patients. In 1 neonate hemorrhages involving the germinative matrix were identified. In 8 neonates MRI was considered normal. In these subjects US follow-up (up to 4 months) confirmed no signs of PVL. Diffusion-weighted imaging may have a higher correlation with later evidence of PVL than does conventional MR imaging and US when performed in the acute phase of the disease.

Brain↗

Quantitative EEG and dynamic susceptibility contrast MRI in Alzheimer's disease: a correlative study.

OBJECTIVE: To investigate the relationship between the electroencephalographic (EEG) power spectra features obtained by quantitative EEG (qEEG) and the hemodynamic parameters detected by dynamic susceptibility contrast-enhanced MR imaging (DSC MRI) in patients with Alzheimer's disease (AD). METHODS: Fourteen patients with probable AD and 15 elderly healthy controls were included in the study. All subjects underwent both EEG recording in a rest condition and perfusion MRI. Three EEG scalp areas were defined (anterior, central and posterior) and power spectra values were obtained from each scalp area. Relative values of temporoparietal and sensorimotor regional cerebral blood volume (rCBV) were measured bilaterally and successively averaged to obtain a total perfusion index. The brain atrophy index was calculated and used as a covariate to rCBV. Correlation analysis was performed between EEG variables and hemodynamic-morphological parameters. RESULTS: qEEG power spectra of AD patients were characterized by an increase in mean relative power of theta (4-7.75 Hz) associated with a decrease in alpha (8-12.75 Hz) frequency bands with a topographic distribution over the central and posterior EEG scalp regions, when compared with controls; beta (13-31 Hz) frequency band also displayed a significant decrease over the anterior and posterior EEG scalp regions of AD patients with respect to controls. The DSC MRI revealed a bilateral reduction in the temporoparietal and sensorimotor rCBV with respect to controls. Correlation analysis showed that the total level of hypoperfusion selectively correlates with the EEG power spectra in theta and alpha frequency bands distributed over anterior/central and central region, respectively. Within AD patients, the lower the level of hypoperfusion, the higher the content of EEG power spectra in theta frequency band, and the lower the level of hypoperfusion, the lower the content of EEG power spectra in alpha band. CONCLUSIONS: The combined qEEG and DSC MRI technology unveiled a selective correlation between neurophysiological and hemodynamical patterns in AD patients. Further investigations will ascertain the relevance of this multi-modal approach in the heterogeneous clinical context of AD.

Aged↗

Cerebrospinal fluid changes after intravenous injection of gadolinium chelate: assessment by FLAIR MR imaging.

Fluid-attenuated inversion recovery (FLAIR) sequence is currently used in clinical practice. Some reports emphasize the possibility that, in pathologic conditions, intravenous injection of gadolinium chelates may lead to an increased signal inside the cerebrospinal fluid (CSF). The aim of this study was to evaluate the presence of CSF signal changes in pathologic conditions causing blood-brain barrier disruption or neovascularization when imaging is performed after intravenous injection of gadolinium. We obtained FLAIR sequences after gadolinium injection from 33 patients affected by different intracranial pathologies and 10 control subjects. Patients were affected by ischemic stroke in the subacute phase, from 2 to 7 days from onset of symptoms (12 patients), meningiomas (8 patients), high-grade gliomas (5 patients), previous surgical procedures for intra-axial neoplasms (5 patients), and multiple sclerosis with active plaques (3 patients). Magnetic resonance imaging was performed in patients and controls using a 1.5-T magnet, using T2- and T1-weighted FLAIR sequences. The FLAIR sequence was acquired before and 1-3 h after injection of a standard dose of gadolinium. In those patients affected by ischemic lesions, FLAIR sequences were repeated the next days and 3-4 days later. The CSF signal was visually evaluated by two readers and scored from 0 to 3 depending by the degree of enhancement. The location of CSF signal changes (close to the lesion, hemispheric, or diffuse) was also considered. The CSF signal was markedly increased after 3 h from intravenous injection of gadolinium in all the patients with stroke, in those with previous surgery, and in those with high-grade gliomas whose neoplasm's surface was in contact with the subarachnoid spaces (SAS) or ventricles; a strong enhancement was also evident inside the necrotic component of the tumor. The CSF changes were more evident close to the pathology and/or in the hemisphere involved by the pathology. Moderate CSF enhancement was observed in the SAS close to meningiomas. No signal changes were evident in all the others. In those patients with stroke imaged in the following days, CSF signal showed to be diffuse to both hemispheres the next day and returned to normal values within 2 days. In patients affected by pathologies with blood-brain barrier breakdown or neovascularization close the SAS or the ventricles, CSF changes, related to gadolinium leakage, are likely when FLAIR sequences are acquired 2-24 h after i.v. injection of the contrast. This pattern should be known in order to differentiate it from that of subarachnoid hemorrhage.

Aged↗

Dynamic susceptibility contrast (DSC) MRI and interictal epileptiform activity in cryptogenic partial epilepsy.

PURPOSE: To study the possible correlation between interictal EEG patterns and neuroradiologic data obtained by dynamic susceptibility contrast (DSC) magnetic resonance imaging (MRI) in patients with partial epilepsy. METHODS: Seventeen subjects with cryptogenic partial epilepsy underwent long-term video-EEG monitoring and DSC-MRI in the same session. Ten patients had temporal lobe epilepsy (TLE) and seven, epilepsy of extratemporal origin (ExTE). MRI data were compared with EEG findings, and the accuracy of DSC-MRI was analyzed considering spiking rate (number of interictal epileptiform abnormalities, IEA/min) and type of epilepsy. RESULTS: DSC-MRI showed a relevant asymmetry in the frontal, temporal, and occipital regions in eight (47%) of 17 patients, consisting of a relative regional cerebral blood volume (rCBV) increase in these areas. Because this region corresponded to the interictal EEG focus (IEF) or to the hemisphere involved in the genesis of epileptic discharges in most patients showing a higher spiking rate, patients were classified in two groups: patients with high spiking rate (HSR, n = 9) and with low spiking rate (LSR, n = 8); the cutoff corresponded to the median value of IEA/min. The rCBV increase corresponded to the IEF or to the hemisphere involved in the genesis of epileptic discharges in seven (77.7%) of nine HSR patients. No patients with LSR showed significant asymmetries in rCBV pattern. In five of six patients with TLE-HSR (83.3%), DSC-MRI showed a relative rCBV increase concordant with IEF or hemisphere involved in the genesis of epileptic discharges; in patients with ExTE-HSR, the concordance was 66%. CONCLUSIONS: DSC-MRI is a noninvasive procedure that may provide useful additional information to lateralize and/or localize the IEF when interictal epileptiform activity is sufficiently elevated.

Adolescent↗

Hemodynamic modifications in patients with symptomatic unilateral stenosis of the internal carotid artery: evaluation with MR imaging perfusion sequences.

BACKGROUND AND PURPOSE: Risk of developing ischemia is higher in patients with reduced cerebrovascular reactivity than in those with preserved cerebrovascular reactivity. Therefore, we assessed cerebral hemodynamic modifications in patients with unilateral stenosis of the internal carotid artery by using perfusion-weighted MR imaging to determine if these modifications underlie or anticipate ischemic signs and symptoms. METHODS: Fifteen patients with unilateral 70-90% carotid artery stenosis were studied with digital subtraction angiography and perfusion-weighted MR imaging. Their findings were compared with those of 15 age- and sex-matched control subjects. Regional cerebral blood volume (rCBV) and mean transit time (MTT) values were calculated in the middle cerebral artery and border zone territories. RESULTS: No significant difference was noted in rCBV and MTT values between the hemispheres in the symptomatic patients. There was a significant difference in MTT values in the border zones between patients and control subjects. MR images in patients and control subjects did not reveal large territorial infarcts and did reveal similar white matter lesion burdens. CONCLUSION: There is adequate compensation of unilateral stenosis when the stenosis is less than 90%. The risk of stroke is higher in patients with stenoses exceeding 70%, mostly because of decreased collateral reserve when confronted with emboli.

Aged↗

Diffusion-weighted MR Imaging: clinical applications in neuroradiology.

Among functional magnetic resonance imaging techniques, diffusion-weighted imaging (DWI) plays an important role in the assessment of a wide variety of brain diseases. DWI provides image contrast that depends on the molecular motion of water and it can be easily added to a standard cranial MR examination, with limited increase in time (imaging time ranges from a few seconds to 2 minutes). DWI is particularly sensitive in the detection of acute ischaemic stroke and in monitoring its evolution (also in the light of new therapeutic strategies for early treatment). Diffusion-weighted MR imaging also provides adjunctive information in the differential diagnosis of other brain diseases including neoplasms, intracranial infections, traumatic brain injury and demyelination some of which may manifest with sudden neurological deficits mimicking acute ischaemic stroke.

Acute Disease↗