The Italian Journal of Neurological Sciences included in the Cochrane Master List.
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Biomedical subjects
Publications and source records attributed to C Colosimo.
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Although histologically benign, craniopharyngioma can regrow either from macroscopic remnants of the tumour left behind at operation, or even after an apparently gross total removal. Recurrence rates vary significantly in the literature, depending on the efficacy of surgical treatment and also on the growth potential of the tumour itself. The main factor influencing tumour regrowth is obviously the extent of surgical resection, as total removal carries a much lesser risk of recurrence compared to subtotal or partial resections (although in such cases radiation therapy can lower this risk significantly). Other factors involved are the duration of follow-up and patient's age at operation, as children tend to relapse more frequently than adults. Even in the "microsurgery" era, characterized by high percentages of total resections, recurrences remain high and continue to represent a major problem of craniopharyngioma treatment. Twenty-seven children and adolescents were operated on for craniopharyngioma at the Department of Neurosurgery, Section of Pediatric Neurosurgery, Catholic University Medical School, Rome between June 1985 and June 1997. Total tumour resection was achieved in 18 cases, subtotal in 7 and partial in 2 instances. One patient died post-operatively. Post-operative neuroradiological investigations confirmed the operative findings, although 3 children with an apparently gross total removal showed a residual non-enhancing calcium fleck adherent to the hypothalamus (which remained stable at the following examinations). Three of the 9 patients with less than total removal underwent post-operative radiation therapy. Out of the 26 surviving patients 6 presented a recurrence of their craniopharyngioma, 2 after an apparently gross total removal and 4 after a subtotal or partial resection (one of them had received radiation therapy). The diagnosis was merely neuroradiological in 5 cases, as only one child presented a clinical picture suggestive of tumour regrowth. Surgery was the first therapeutic option in all the cases. Total tumour resection was accomplished in 3 cases, subtotal in 2 and partial in the last one. One child died post-operatively. Four of the 5 survivors received radiation therapy. All the patients are presently alive and stable (mean follow-up: 5.6 yrs). The authors conclude that surgery should be the first therapeutic option in case of recurrent craniopharyngioma and that radiation therapy should also be considered but only as adjuvant therapy.
We report a peculiar case of congenitally restricted sursumduction caused by an anomalous band-like structure within the right orbit which was completely distinct from the extraocular muscles. Imaging (static and dynamic ultrasound studies of the orbit and globe, CT and MRI) revealed the origin of the anomalous structure in Zinn's ring, its intraconal course and bulbar insertion. The ultrasound characteristics were similar to those of the extraocular muscles and optic nerve, and contractile activity appeared to occur during eye movements. The seemingly muscular nature of this structure and its total autonomy with respect to the normal extraocular muscles distinguish this case from previously reported cases of congenital restrictive strabismus.
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OBJECTIVE: To confirm whether a dinucleotide repeat sequence in an intron of the microtubule-associated protein tau is associated with progressive supranuclear palsy (PSP) in an independent study population and to establish an improved methodology for allelotyping. BACKGROUND: It has recently been reported that a genetic variant of tau, known as the A0 allele, was represented excessively in PSP patients when compared with control subjects. METHODS: In a multicenter study, the authors examined the allelic distribution of this dinucleotide repeat marker in a set of clinically ascertained PSP patients (n = 30), multiple system atrophy (MSA) patients (n = 35), and matched control subjects (n = 70). Individuals were allelotyped using automated analysis of fluorescently labeled PCR products. RESULTS: The A0 allele was significantly overrepresented in the PSP patients (93.3% versus 76.4%; p = 0.0067; odds ratio [OR] = 4.33; 95% confidence interval [CI], 1.36 to 13.60), but not in the MSA patients. Likewise, A0 homozygotes were overrepresented in the PSP group (86.7% versus 61.1%; p = 0.02; OR = 4.14; 95% CI, 1.19 to 14.48) compared with control subjects. CONCLUSIONS: The findings of this study, which is the largest to date, support those of a previous investigation that used pathologically confirmed PSP patients. These data provide additional strong evidence that genetic variation at or near the tau gene plays an important role in the pathogenesis of PSP.
We describe a child with trigonocephaly, strabismus, upslanting palpebral fissures, nasal bridge hypoplasia, hypertrophic alveolar ridges and large gingivo-labial frenula, short neck, hip "dysplasia," equinovarus deformities, cryptorchidism, atrial septal defect ostium secundum, and severe mental retardation, findings consistent with C syndrome. The patient also had a Dandy-Walker malformation, complete callosal agenesis, and occipital meningocele. These structural defects are independent of the premature closure of the metopic suture, and confirm that midline brain anomalies are part of C syndrome. The hypothesis that the basic developmental defect in this syndrome primarily affects the midline field is supported by the concomitance of other anomalies, such as conotruncal heart defects, omphalocele, and genital anomalies.
Sleep benefit (SB) In Parkinson's disease (PD) is not well characterized. To determine SB frequency, as well as to characterize and correlate it with other disease variables, we evaluated prospectively a consecutive series of 312 PD patients by means of a structured questionnaire: 55% reported having SB and 35% reported that awakening was their best time of the day. Because of SB, 21% of the entire population were able to skip or delay medication. The mean duration of the phenomenon was 85.4 +/- 67 min. Patients with SB were significantly older (p < 0.0002), had disease longer (p < 0.05), and were often men (chi 2 = 3.5, df 1, p = 0.05). Patients with SB took sleep medication with similar frequency as those without SB. There were no differences in hours of sleep or sleep latency. Sleep problems such as nightmares or somnambulism, but not the number of sleep awakenings, were similar in both groups. In conclusion, SB is a frequent phenomenon, especially in men, elderly patients, and patients with longer disease duration. SB enables the morning L-dopa dose to be postponed in approximately 50% of patients.
Because of its high intrinsic contrast resolution, magnetic resonance imaging (MRI) has largely replaced computed tomography (CT) in the diagnosis of central nervous system (CNS) diseases, and the use of contrast media in MRI of the CNS has increased progressively, gadolinium chelates being, by far, the most used ones. Our paper will focus on the current indications for contrast-enhanced MR imaging of the CNS and will outline the current role and the future trends in contrast medium (CM) administration in the diagnosis of CNS disease. Gadolinium chelates are now routinely employed in MRI of the brain and spine and have been shown to be relatively safe and well tolerated at standard doses of 0.1 mmol/kg b. w. Although there is general consensus on the usefulness of CM administration in MRI of the CNS, some controversy still persists on the type of CM to be used, on the administration scheme, and on the imaging protocol. The current trend is toward selective employment of CM, the effect of which can be enhanced by Magnetization Transfer (MT) techniques, to increase the sensitivity of the procedure. Double or triple doses of CM can be useful in the detection of small parenchymal lesions with faint enhancement, in functional/dynamic studies of the brain parenchyma and in MR angiography. Gadoteridol (ProHance(R)) closely resembles the features of an optimal CM, because it is non-ionic, has a low osmolality and a low viscosity, and may be particularly efficacious when high doses are required.
We studied 19 women, heterozygous for adrenoleukodystrophy (ALD) in whom the carrier status was demonstrated by abnormally high plasma levels of very-long-chain fatty acids. Clinical examination revealed slight neurological signs in two patients. Clear-cut neurological deficits in three, and it was fully normal in the remaining 14. All subjects underwent motor evoked potential (MEP) and somatosensory evoked potential (SEP) studies. Seventeen out of 19 subjects underwent brain MRI which demonstrated various degrees of abnormality in one asymptomatic and five symptomatic subjects; SEPs and MEPs revealed CNS involvement in 12 and 8 out of the 19 subjects, respectively. Symptomatic patients showed severe neurophysiological abnormalities, whereas milder but unequivocal EP abnormalities were found in seven of the 14 patients with normal clinical examination. Our data thus suggest CNS involvement in the majority of the ALD carriers, evident also in preclinical stages and progressively severe. The possibility of assessing different degrees of neurological involvement could be relevant for therapeutical purposes. Moreover, neurophysiological studies could provide the only objective marker of functional nervous system involvement, e.g. in order to monitor the efficacy of treatment, and in clinically and radiologically silent cases.
OBJECTIVES: The present investigation was aimed at establishing whether interferon (IFN)-beta would induce the synthesis of autoantibodies in patients affected by multiple sclerosis (MS). MATERIALS AND METHODS: The titres of different autoantibodies were measured in a group of 68 relapsing-remitting MS patients before and during treatment with human recombinant IFN-beta1a (3 MIU or 9 MIU subcutaneously 3x a week). ANA, anti-thyroid, anticardiolipin serum autoantibodies were assayed in all cases: when patients were found positive to ANA > 1 : 40, they were also tested for anti-DNA and anti-ENA antibodies. RESULTS: No increase was found in autoantibodies synthesis during 6 months of r-hIFNbeta1a therapy, either at low or high dosages. The percentage of patients positive to different types of autoantibodies varied between 0 and 29%, which are values similar to those already reported in untreated MS patients. CONCLUSION: Our data indicate that the short-term use of IFN-beta1a in MS is safe in terms of the induction of humoral autoimmune responses: however, further follow-up is needed to confirm these findings during long-term treatments.
Two patients with spinal infarction and one patient with the previously unreported complication of spinal transient ischaemic attack associated with cocaine misuse are reported. Spinal MRI documented an infarction in the territory of the anterior spinal artery in the first two patients and was completely normal in the patient with a transient ischaemic attack. Motor evoked potentials were abnormal in all three patients.
We report a case of a 52-year-old woman presenting with a recurrence of a large pituitary adenoma with suprasellar extension and an overt Cushing's clinical picture, five years after successful transsphenoidal treatment. After transfrontal ablation of the tumour, followed by external radiotherapy, she was asymptomatic for six years before she exhibited epileptic seizures. A left frontal intracranial neoplasm was diagnosed and removed, and at histological examination it was found to be constituted by a localization of the pituitary ACTH secreting neoplasia. One month later she exhibited spinal dissemination of the ACTH secreting neoplasia which was only partially removed. After four months a Magnetic Resonance Image (MRI) revealed recurrence of the intracranial localization and further spinal dissemination. Because of compressive symptoms, spinal masses with the same histologic features, were partially removed again in three successive surgical operations. Several medical treatments for obtaining the control of corticoid excess, caused by the ACTH overproduction, were tried, but none were satisfactory. Finally a bilateral adrenal venous embolization was performed thus obtaining a critical transient fall of serum cortisol. Five months later the patient died. At necroscopy bilateral adrenal enlargement was found, spinal disseminations were confirmed, and no metastatic lesions were discovered.
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Only a few cases reported in the literature fulfil the currently established criteria for accepting the traumatic origin of some intracranial tumors. A case of post-traumatic glioma is presented. Several years after sustaining a commotive left parietal trauma, our patient developed symptoms of intracranial tumor. Neuroimaging (CT and MRI) showed a large neoplasia in the left temporo-parietal-occipital region, and stereotactic biopsy revealed a mixed glioma in continuity with the scar resulting from the trauma.
BACKGROUND: Subdural hematoma is a well-known complication of hydrocephalus shunting procedures. Since the advent of modern neuroimaging techniques, a more realistic incidence of subdural hematomas in shunted patients has been recognized. The description of several asymptomatic cases raises the problem of choosing the most appropriate therapeutic policy for such a condition. METHODS: We report two cases with long standing hydrocephalus and macrocrania in which bilateral huge acute and subacute postshunting subdural hematoma developed and remained asymptomatic. RESULTS: The first patient was treated initially by surgery. Subsequently, despite the persistence of the subdural collections, a nonsurgical policy was chosen. The second patient was deliberately nonsurgically treated. CONCLUSIONS: On the basis of our experience, we conclude that a nonsurgical policy should be followed in patients with long standing hydrocephalus and macrocrania, if they develop postshunting large hemorrhagic subdural collections and remain asymptomatic.
Pott's disease of the cervical spine is relatively rare despite the fact that tuberculous spondylitis is still the most common manifestation of bone and joint infection. We describe a case, the first to our knowledge, of sub-occipital Pott's disease associated with a retropharyngeal abscess in an acquired immune deficiency syndrome (AIDS) patient. Neurological signs were the main clinical findings. The patient was successfully treated with anti-tuberculosis drugs combined with external stabilization of the spine.