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981.
982.
Vigliani MC Honnorat J Antoine JC Vitaliani R Giometto B Psimaras D Franchino F Rossi C Graus F;PNS EuroNetwork 《Journal of neurology》2011,258(11):2058-2068
Chorea and other movement disorders are rarely described as paraneoplastic. The aim of this study was to describe 13 patients
with paraneoplastic chorea and dystonia collected by the members of the paraneoplastic neurological syndrome (PNS) EuroNetwork
and to review 29 cases from the literature. We analyzed neurological symptoms, severity of the neurological syndrome, delay
in neurological diagnosis, associated cancer, oncological and neurological treatments received, and outcome. Eleven (1.2%)
out of 913 patients with PNS were identified in the EuroNetwork register. Two more patients not included in the register were
added. The overall population consisted of 13 patients with a median age of 75 years (range 49–82 years). In most patients,
the movement disorder was classical choreoathetosis with symmetric involvement of the trunk, neck, and limbs. A minority of
patients presented unilateral chorea, dystonia, and orobuccal dyskinesia. Associated symptoms, as polyneuropathy, encephalitis,
psychiatric disturbances, or visual defects, were often present. The movement disorder usually had a subacute course. The
most frequently associated cancer was small cell lung cancer (SCLC). Lymphoma, bowel, or kidney cancers were also reported.
CV2/CRMP5 was the most frequently associated antibody, followed by Hu. Hyperintense lesions of the basal ganglia on T2-weighted
images were seldom observed. Response to cancer therapy was observed in a minority of patients, but survival was short (17 months).
As in other neurological diseases, movement disorders should also be suspected as paraneoplastic when they develop subacutely
in older patients (usually over 50) and often in the presence of other ancillary neurological symptoms. 相似文献
983.
984.
985.
Margherita Fabbri Fabio Pizza Elisa Magosso Mauro Ursino Sara Contardi Fabio Cirignotta Federica Provini Pasquale Montagna 《Sleep medicine》2010,11(3):253-257
ObjectiveTo determine whether automatic slow eye movement (SEM) analysis performs comparably to standard sleep onset criteria at the multiple sleep latency test (MSLT) and at the maintenance of wakefulness test (MWT) in patients with obstructive sleep apnea syndrome (OSAS).MethodsWe compared sleep latencies obtained upon standard analysis of MSLT and MWT recordings with automatically detected SEM latencies in a population of 20 severe OSAS patients that randomly underwent the two tests 1 week apart.ResultsEight of 20 OSAS patients had EDS as answered by the Epworth Sleepiness Scale (ESS). Mean SEM latency performed comparably to standard sleep onset in both the MSLT (6.4 ± 5.5 min versus 7.4 ± 5.1 min, p = 0.25) and the MWT (25.2 ± 14.5 min versus 24.4 ± 14.0 min, p = 0.45) settings. Mean SEM latency significantly correlated with the sleep latency at the MSLT (r = 0.52, p < 0.05) and at the MWT (r = 0.74, p < 0.001). Finally, the Epworth Sleepiness Scale score correlated with SEM latency at the MWT (r = ?0.62, p < 0.01), but not at the MSLT.ConclusionsAutomatic SEM detection performed comparably to standard polysomnographic assessment of sleep onset, thus providing a simplified technical requirement for the MSLT and the MWT. Further studies are warranted to evaluate SEM detection of sleep onset in other sleep disorders with excessive daytime sleepiness. 相似文献
986.
987.
Francesca Ragona Daniela Brazzo Ilaria De Giorgi Monica Morbi Elena Freri Federica Teutonico Elena Gennaro Federico Zara Simona Binelli Pierangelo Veggiotti Tiziana Granata 《Brain & development》2010
Aims of our study were to describe the early clinical features of Dravet syndrome (SMEI) and the neurological, cognitive and behavioral outcome. The clinical history of 37 patients with clinical diagnosis of SMEI, associated with a point mutation of SCN1A gene in 84% of cases, were reviewed with particular attention to the symptoms of onset. All the patients received at least one formal cognitive and behavior evaluation. Epilepsy started at a mean age of 5.7 months; the onset was marked by isolated seizure in 25 infants, and by status epilepticus in 12; the first seizure had been triggered by fever, mostly of low degree in 22 infants; the first EEG was normal in all cases. During the second year of life difficult-to-treat seizures recurred, mostly triggered by fever, hot bath, and intermittent lights and delay in psychomotor development became evident. At the last evaluation, performed at a mean age of 16 ± 6.9 years, mental retardation was present in 33 patients, associated with behavior disorders in 21. Our data indicate that the most striking features of SMEI are: the early onset of seizures in a previously healthy child, the long duration of the first seizure, the presence of focal ictal symptoms, and sensitivity to low-grade fever. Diagnosis of SMEI may be proposed by the end of the first year of life, and a definite diagnosis can be established during the second year based on the peculiar seizure-favoring factors, EEG photosensitivity and psychomotor slowing. The temporal correlation between high seizure frequency and cognitive impairment support the role of epilepsy in the clinical outcome, even if a role of channelopathy cannot be ruled out. 相似文献
988.
989.
Giuseppina Nicotra Federica Manfroi Carlo Follo Roberta Castino Nicola Fusco Claudia Peracchio Simonetta Kerim Guido Valente Ciro Isidoro 《Disease markers》2010,28(3):167-183
The lysosomal protease Cathepsin D (CD) has been implicated in the homeostasis of lymphatic tissues. We investigated
whether the level of CD expression influences the progression and the clinical outcome in Non-Hodgkin’s Lymphomas (NHLs).
The expression of CD was assessed by immunohistochemistry and immunofluorescence in biopsies of Diffuse Large B Cell
Lymphomas (DLBCL, 35 cases), Follicular Lymphomas (FL, 9 cases of grade I-II plus 14 cases of grade IIIB), Chronic
Lymphocytic Leukaemias (CLL, 17 cases) and Peripheral T-cell Lymphomas (PTCL, 5 cases). CD staining showed a cytoplasmic
punctate pattern compatible with its lysosomal localization. Based on the level of CD expression and the proportion of positive
cells, lymphomas were classified as ‘low expressing’ (< 20% of tumor cells) or ‘highly expressing’ (≥ 20% of tumor cells).
Lymphomas highly expressing CD were associated with a worse stage (III-IV) at diagnosis (31/34 cases; p = 0.002) and with
a poor clinical outcome (i.e., partial remission and death; 28/34 cases; p = 0.03). In the subgroup of aggressive/high grade
of malignancy lymphomas (i.e., DLBCL, FL IIIB and PTCL), the Kaplan-Meier curve revealed a very low cumulative overall
survival probability (~20% at 5 year) for patients bearing a NHL with > 40% CD-positive cells compared to that of patients
bearing a NHL with < 20% CD-positive cells (~70% at 5 year). This correlation was statistically significant (log-rank test, p =
0.01). In Cox multivariate analysis CD failed to be a prognosticator independent of pathologic stage, though the hazard ratio
confirmed the association of low expression with a better survival probability. These data indicate that the presence of a high
percentage of CD-positive tumor cells negatively reflects on the progression of NHLs. 相似文献
990.
Antonella Coli Andrea Di Giorgio Federica Castri Carmelo Destito Alfredo Wiel Marin Giulio Bigotti 《Pathology, research and practice》2010
Reports about adrenocortical carcinomas (AC) mixed with sarcomatous areas are very rare. The terminology and pathogenesis of such biphasic tumors remain controversial. Herein, we report a case of sarcomatoid carcinoma of the adrenal gland in a 75-year-old woman who presented with left abdominal pain of one month's standing. The results of abdominal ultrasonography and computed tomography (CT) showed the presence of a large heterogeneous adrenal mass. A left adrenalectomy and complete splenectomy were performed. Histologically, the neoplasm showed areas of adrenocortical carcinoma and areas of sarcomatoid spindle cell proliferation. When examined immunohistochemically, the carcinomatous cells stained positively for S-100 protein, Melan-A protein, and neuron-specific enolase (NSE), and focally for vimentin and the cytokeratin marker MNF 116. Also, the carcinomatous cells were immunoreactive to the monoclonal antibody HMB-45. The sarcomatous component expressed vimentin, as well as other smooth and skeletal muscle markers. Liver metastases appeared 3 months postoperatively. Twelve months after removal of the primary tumor, the patient died of her disease. To the best of our knowledge, only seven cases of adrenal sarcomatoid carcinoma have been reported in the medical literature. We review the reported cases according to the 2004 classification of the World Health Organization (WHO) of lung tumors, and highlight the histogenesis, diagnosis, and clinical course of this very aggressive tumor. 相似文献