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Biomedical subjects

E Tedeschi

Publications and source records attributed to E Tedeschi.

At least 19 recordsLinked to original sources
PubMed2006

Osteogenesis imperfecta: clinical, biochemical and molecular findings.

Mutations in COL1A1 and COL1A2 genes, encoding the alpha1 and alpha2 chain of type I collagen, respectively, are responsible for the vast majority of cases of osteogenesis imperfecta (OI) (95% of patients with a definite clinical diagnosis). We have investigated 22 OI patients, representing a heterogeneous phenotypic range, at the biochemical and molecular level. A causal mutation in either type I collagen gene was identified in 20 of them: no recurrent mutation was found in unrelated subjects; 15 out of 20 mutations had not been reported previously. In two patients, we could not find any causative mutation in either type I collagen gene, after extensive genomic DNA sequencing. Failure of COL1A1/COL1A2 mutation screening may be due, in a few cases, to further clinical heterogeneity, i.e. additional non-collagenous disease loci are presumably involved in OI types beyond the traditional Sillence's classification.

Adolescent↗
PubMed2006

Anti-GD2-like IgM autoreactivity in multiple sclerosis patients.

Seric IgM autoreactivity in 100 multiple sclerosis (MS) and 106 control (70 of whom had other neurological diseases) patients was assessed either by immunohistochemistry on normal human CNS tissue or to GD2, GD1a, GD3 by ELISA and thin layer chromatography (TLC) techniques. By double immunohistochemistry, we found that 44% of the total MS population showed seric IgM reactivity to oligodendrocytes and myelin, this finding being particularly frequent in patients with secondary progressive MS. In the non-MS cohort, positive signals were seen only in one patient. In all cases, extraction of lipids from CNS sections abolished the immunoreactivity. Among the gangliosides investigated by ELISA, anti-GD2-like IgM autoantibodies were detected in the serum of 30% of MS patients, a subgroup of whom (below 10%) reacted also with GD1a and/or GD3. More than 85% of MS cases with anti-GD2-like IgM immunoreactivity by ELISA showed also IgM antioligodendrocyte/myelin staining by immunohistochemistry. However, no immunostaining in MS sera was observed when gangliosides were resolved by TLC. A positive correlation with neurological disability was observed, as the Expanded Disability Status Scale of MS patients with anti-GD2-like IgM autoreactivity by ELISA was significantly worse than seronegative MS cases. The results of the present study enforce the role of glycolipids as potential autoantigens and of IgM autoantibodies in MS pathogenesis.

Adult↗
PubMed2002

Exclusively intracranial and cranial fasciitis of the adult age.

The unusual case of an exclusively intracranial localization of fasciitis (CF) in a man aged 47 is reported. The cystic lesion had been accidentally discovered 10 years before when the patient sustained a contralateral ischemic stroke; the cyst, being absolutely silent, was not operated on at that time. After 10 years, the patient complained of seizures and mild right-sided paresis. CT scan revealed a dramatic increase of the lesion whose mass effect caused an initial subfalcial herniation of the brain. The mass was grossly removed, the patient recovered and become seizure-free. CF, rare in childhood, is exceptional in the adult age. The importance of a correct histological diagnosis is hereby stressed, because CF is absolutely benign, self-limiting, and does not require further treatment, but may be misdiagnosed as sarcoma.

Bone Cysts↗
PubMed2000

Measurement of global brain atrophy in Alzheimer's disease with unsupervised segmentation of spin-echo MRI studies.

In 16 patients with probable Alzheimer's disease (AD; NINDS criteria, age range 56-78 years), gray matter (GM), white matter (WM), and cerebrospinal fluid (CSF) absolute and fractional volumes were measured with an unsupervised multiparametric post-processing segmentation method based on estimates of relaxation rates R1, R2 (R1 = 1/T1; R2 = 1/T2) and proton density [N(H)] from conventional spin-echo studies (Alfano et al. Magn. Reson. Med. 1997;37:84-93). Global brain atrophy, and GM and WM fractions significantly correlated with Mini-Mental Status Examination and Blessed Dementia Scale scores. Compared with normals, brain compartments in AD patients showed decreased GM (-6.84 +/- 1.58%) and WM fractions (-9.79 +/- 2.47%) and increased CSF fractions (+58.80 +/- 10.37%). Changes were more evident in early-onset AD patients. In AD, measurement of global brain atrophy obtained by a computerized procedure based on routine magnetic resonance studies could complement the information provided by neuropsychological tests for the assessment of disease severity.

Aged↗
PubMed2000

Automated segmentation and measurement of global white matter lesion volume in patients with multiple sclerosis.

A fully automated magnetic resonance (MR) segmentation method for identification and volume measurement of demyelinated white matter has been developed. Spin-echo MR brain scans were performed in 38 patients with multiple sclerosis (MS) and in 46 healthy subjects. Segmentation of normal tissues and white matter lesions (WML) was obtained, based on their relaxation rates and proton density maps. For WML identification, additional criteria included three-dimensional (3D) lesion shape and surrounding tissue composition. Segmented images were generated, and normal brain tissues and WML volumes were obtained. Sensitivity, specificity, and reproducibility of the method were calculated, using the WML identified by two neuroradiologists as the gold standard. The average volume of "abnormal" white matter in normal subjects (false positive) was 0.11 ml (range 0-0.59 ml). In MS patients the average WML volume was 31.0 ml (range 1.1-132.5 ml), with a sensitivity of 87.3%. In the reproducibility study, the mean SD of WML volumes was 2.9 ml. The procedure appears suitable for monitoring disease changes over time. J. Magn. Reson. Imaging 2000;12:799-807.

Adult↗
PubMed1999

Neurological deficit following spinal anaesthesia: MRI and CT evidence of spinal cord gas embolism.

A 62-year-old diabetic woman developed permanent neurological deficits in the legs following spinal anaesthesia. MRI showed oedema in the spinal cord and a small intramedullary focus of signal void at the T10 level, with negative density at CT. Intramedullary gas bubbles have not been reported previously among the possible neurological complications of spinal anaesthesia; a combined ischaemic/embolic mechanism is hypothesised.

Anesthesia, Spinal↗
PubMed1999

Frequency encoding for simultaneous display of multimodality images.

UNLABELLED: An original method for simultaneous display of functional and anatomic images, based on frequency encoding (FE), merges color PET with T1-weighted MR brain images, and grayscale PET with multispectral color MR images. A comparison with two other methods reported in the literature for image fusion (averaging and intensity modulation techniques) was performed. METHODS: For FE, the Fourier transform of the merged image was obtained summing the low frequencies of the PET image and the high frequencies of the MR image. For image averaging, the merged image was obtained as a weighted average of the intensities of the two images to be merged. For intensity modulation, the red, green and blue components of the color image were multiplied on a pixel-by-pixel basis by the grayscale image. A comparison of the performances of the three techniques was made by three independent observers assessing the conspicuity of specific MRI and PET information in the merged images. For evaluation purposes, images from seven patients and a computer-simulated MRI/PET phantom were used. Data were compared with a chi-square test applied to ranks. RESULTS: For the depiction of MRI and PET information when merging color PET and T1-weighted MR images, FE was rated superior to intensity modulation and averaging techniques in a significant number of comparisons. For merging grayscale PET with multispectral color MR images, FE and intensity modulation were rated superior to image averaging in terms of both MRI and PET information. CONCLUSION: The data suggest that improved simultaneous evaluation of MRI and PET information can be achieved with a method based on FE.

Brain↗
PubMed1998

Reproducibility of intracranial volume measurement by unsupervised multispectral brain segmentation.

To assess the inter-study variability of a recently published unsupervised segmentation method (Magn. Reson. Med. 1997;37:84-93), 14 brain MR studies were performed in five normal subjects. Standard deviations for absolute and fractional volumes of intracranial compartments, which reflect the experimental variability, were smaller than 16.5 ml and 1.1%, respectively. By comparing the experimental component of the variability with the variability observed in our reference database, an estimate of the biological variability of the intracranial fractional volumes in the database population was obtained.

Adolescent↗
PubMed1998

Atypical pleomorphic xanthoastrocytoma.

A 65-year-old man experienced an ictal episode. CT revealed a left capsulo-thalamic mass, and SPET showed hypoperfusion of the left cerebral emisphere. The lesion was subtotally removed, and postoperative radiotherapy was given. Pathological examination demonstrated an "atypical" pleomorphic xanthoastrocytoma. The patient died of massive regrowth of the tumor 22 months after surgery. This case is discussed in light of the pertinent literature.

Aged↗
PubMed1998

Technetium-99m-tetrofosmin uptake in brain tumors by SPECT: comparison with thallium-201 imaging.

UNLABELLED: Thallium-201 is clinically used for the assessment of primary and recurrent brain tumors. The biologic properties of 201Tl that allow it to accumulate within the tumor cells render 201Tl useful in evaluating tumor malignancy, but its physical characteristics and nonroutine availability limits its use in some institutions, as compared to 99mTc-labeled compounds. The aim of this study was to assess the feasibility of using 99mTc-tetrofosmin for imaging brain tumors and to compare its uptake with that of 201Tl. METHODS: Twenty-six patients with 27 intracranial masses were studied with SPECT. In the first group of seven patients (Group A), the timing for optimal acquisition of the 99mTc-tetrofosmin scan was assessed. In the second group of 19 patients (Group B), two sequential 201Tl (74-148 MBq intravenous) and 99mTc-tetrofosmin (740-925 MBq intravenous) studies were performed 20 min after tracer injection and compared. RESULTS: In Group A, no significant difference in the tumor-to-background (T/B) ratio among the 20-, 40- and 120-min postinjection studies was observed. In Group B, the quality of reconstructed images with 99mTc-tetrofosmin, judged visually, was superior to that of 201Tl in 47% of all studies and was comparable in the remaining 53%. A significant relationship between 201Tl and 99mTc-tetrofosmin T/B ratio (r = 0.75, p < 0.01) was found. The T/B ratio of 99mTc-tetrofosmin was significantly higher than that of 201Tl (23.3 +/- 21.5 compared to 6.1 +/- 2.9, p < 0.005). CONCLUSION: Technetium-99m-tetrofosmin is a suitable radiotracer for the imaging of intracranial lesions with SPECT. Moreover, a better definition of tumor margins and a higher contrast between neoplastic and normal brain tissue can be achieved.

Brain Neoplasms↗
PubMed1997

Pleomorphic xanthoastrocytoma: clinical, imaging and pathological features of four cases.

Four cases of pleomorphic xanthoastrocytoma (PXA) were collected from among 688 glioma patients who underwent operation at the Institute of Neurosurgery, University of Naples "Federico II" between January 1973 and December 1994. Three were females and one male, ranging in age from 10 months to 65 years. Three tumors were superficial in location, appearing as a meningo-cerebral mass in the temporo-parietal region. In one case, the tumor was situated deep within the brain (capsulo-thalamic region), without contact with leptomeninges. Three patients had experienced epileptic seizures, whereas one patient presented with an ictal episode. Tumor excision was grossly total in two cases, and subtotal in the remaining two. In three cases, histological examination demonstrated a "typical" PXA; conversely one tumor (subtotal excised) was an "atypical" PXA. The two patients with incomplete surgical resection were postoperatively treated with fractionated brain radiation therapy. Of the two patients who had grossly total removals, one showed tumor recurrence 6 years after surgery, and underwent operation (the recurrent neoplasm did not exhibit malignant transformation); the second patient was free of tumor at 14 months following craniotomy. Of the two patients who had undergone subtotal removals, one died because of massive regrowth of the lesion 22 months after surgery, whereas the second patient was asymptomatic at 1 year follow up.

Adolescent↗
PubMed1996

Different thallium-201 single-photon emission tomographic patterns in benign and aggressive meningiomas.

To evaluate the possibility of preoperatively obtaining an index of aggressiveness for intracranial meningiomas, we prospectively studied 22 patients with computed tomographic or magnetic resonance imaging evidence of meningeal tumour, using single-photon emission tomography (SPET) of the brain and thallium-201 (201Tl). On a brain-dedicated SPET scanner, a rapid acquisition protocol with early, short scans was started simultaneously with the intravenous administration of 111 MBq 201Tl, covering the initial intratumoral distribution of the tracer. Twenty minutes post injection, a delayed SPET scan was also obtained. On the reconstructed and attenuation-corrected images we calculated the 201Tl concentration in tumour and normal contralateral brain tissue, and compared intratumoral tracer concentration in the initial and the final part of the rapid acquisition protocol. Benign and malignant meningiomas were classified as such based on histological examination. In malignant lesions, the ratio of the 201Tl concentration at 2-4 min post injection to that at 14-16 min was found to be significantly higher than in non-aggressive neoplasms (mean+/-1 SD: 1.14+/-0.31 and 0.56+/-0.13, respectively, P <0.01). Conversely, in the delayed scan, most lesions showed high tracer concentration, and the two groups could not be distinguished. In addition, three recurrent meningiomas displayed the same imaging behaviour as the malignant group, i.e. had similar 201Tl concentration values at 2-4 and at 14-16 min. Our findings suggest that the comparative assessment of intratumoral 201Tl concentration at 2-4 and at 14-16 min post injection could provide a fast, simple method to differentiate preoperatively intracranial meningiomas with different biological behaviour.

Female↗
PubMed1996

Functional characterization of brain tumors: an overview of the potential clinical value.

Early detection and characterization are still challenging issues in the diagnostic approach to brain tumors. Among functional imaging techniques, a clinical role for positron emission tomography studies with [18F]-fluorodeoxyglucose and for single photon emission computed tomography studies with [201Tl]-thallium-chloride has emerged. The clinical role of magnetic resonance spectroscopy is still being defined, whereas functional magnetic resonance imaging seems able to provide useful data for presurgical localization of critical cortical areas. Integration of morphostructural information provided by computed tomography and magnetic resonance imaging, with functional characterization and cyto-histologic evaluation of biologic markers, may assist in answering the open diagnostic questions concerning brain tumors.

Brain Neoplasms↗
PubMed1996

Cerebral glucose metabolism is decreased in white matter changes in patients with phenylketonuria.

Cerebral magnetic resonance imaging (MRI) has revealed white matter changes in patients with phenylketonuria (PKU), an inborn error of metabolism with increased plasma phenylalanine level. Because the significance of these lesions is unknown, this study was undertaken to determine whether glucose metabolism was depressed in cerebral white matter MRI changes in patients with PKU. Four patients with PKU and nine healthy volunteers with an average age of 23 y (range 19-26 y) and 23 y (range 20-27 y), respectively, were studied. The IQ of patients with PKU was between 58 and 97. Cerebral MRI and positron emission tomography images with 18F-deoxyglucose were obtained, and arteriovenous differences for oxygen and glucose as well as cerebral blood flow was measured simultaneously to determine global cerebral oxygen and glucose metabolism. Cerebral MRI revealed that all patients with PKU had white matter changes with characteristic localization. In patients with PKU, regional glucose metabolism was 36% lower in the anterior periventricular areas, 0.14 +/- 0.06 compared with 0.22 +/- 0.04 mumol.g-1.min-1 in controls (mean +/- SD, p < 0.05, Mann-Whitney). Further, the ratio between glucose metabolism in the affected white matter and the cortex was 14% lower in the patients, decreasing from 0.57 +/- 0.05 to 0.48 +/- 0.06 (p < 0.05). Global cerebral blood flow, oxygen and glucose consumption were similar in the two groups. In conclusion, regional glucose metabolism is lower in MRI-demonstrated white matter changes. In mildly intellectually impaired patients with PKU, global cerebral glucose and oxygen metabolism remain intact.

Adult↗