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排序方式: 共有165条查询结果,搜索用时 969 毫秒
1.
Maria Stella Aniello Davide Martino Gianluca Masi Paolo Livrea Giovanni Defazio 《Movement disorders》2006,21(4):571-575
We developed a self-administered questionnaire for screening the most common adult-onset dystonias. It was tested in 90 first-degree relatives of 22 adult-onset dystonia patients, yielding 79% sensitivity and 94% specificity. Simulation of a case-finding procedure based on serial application of the questionnaire and clinical examination of both subjects screening positive and subjects screening negative who had < 8 years of schooling increased sensitivity to 95% and specificity to 100%. This questionnaire may be an important screening resource for familial aggregation studies to be used in the context of a complex case-finding procedure. 相似文献
2.
Defazio G Livrea P Giorelli M Martino D Roselli F Ricchiuti F Trojano M 《Brain research》2000,881(2):227-230
TNFalpha (100 U/ml, 24 h) upregulated intercellular adhesion molecule 1 (ICAM1) expression on brain microvascular endothelial cell (BMEC) culture. The tyrosine kinase (TK) inhibitor genestein (100 microgram/ml), the protein kinase C (PKC) inhibitor staurosporin (1 nM), and interferon (IF) beta-1a (1000 U/ml) antagonized TNFalpha effect. When an ineffective dose of IFbeta-1a (100 U/ml) was challenged with ineffective doses of either genestein (10 microgram/ml) or staurosporin (0.1 nM), the combination IFbeta-1a-genestein significantly reduced TNFalpha-induced ICAM1 expression whereas IFbeta-1a-staurosporin did not. These findings indicate that a TK- rather than a PKC-dependent mechanism is involved in the modulation of TNFalpha response by IFbeta-1a on BMECs. 相似文献
3.
Solla P. Masala C. Liscia A. Piras R. Ercoli T. Fadda L. Hummel T. Haenher A. Defazio G. 《Journal of neurology》2020,267(1):57-63
Journal of Neurology - The role of specific sex-related patterns in olfactory dysfunctions of Parkinson’s disease (PD) patients is unclear. The aim of this study was to assess the presence of... 相似文献
4.
Ercoli Tommaso Masala Carla Pinna Ilenia Orofino Gianni Solla Paolo Rocchi Lorenzo Defazio Giovanni 《Neurological sciences》2021,42(12):4921-4926
Neurological Sciences - Qualitative smell/taste disorders (such as phantosmia, parosmia, phantogeusia, and parageusia) have not yet been fully characterized in patients who had COVID-19, whereas... 相似文献
5.
In recent years, increasing attention has centred on pain in Parkinson's disease (PD). Pain in PD is heterogeneous in quality and body distribution. To clarify how the various pain types relate to PD and to propose plausible treatment strategies, in this paper we reviewed psychophysical, neurophysiological and imaging data reported in parkinsonian patients with and without pain. Most available evidence supports abnormal central nociceptive input processing that probably reflects an impairment in the lateral and medial pain pathways. Changes in central pain processing probably underlie all the different pain types and also intervene in patients with PD without pain. Thus, altered pain processing might predispose patients with PD to spontaneous pain that is variable in quality. These background pain‐processing abnormalities may interact with additional factors (such as contractures secondary to marked rigidity/bradykinesia, dystonia and medical conditions associated with painful symptoms), thus causing pain to manifest itself clinically in various ways and providing candidate targets for pain treatment in PD. 相似文献
6.
Miryam Carecchio MD Monia Magliozzi BSc Massimiliano Copetti PhD Alessandro Ferraris MD PhD Laura Bernardini PhD Monica Bonetti BSc Giovanni Defazio MD Mark J. Edwards PhD Isabella Torrente BSc Fabio Pellegrini MSc Cristoforo Comi MD PhD Kailash P. Bhatia MD FRCP Enza Maria Valente MD PhD 《Movement disorders》2013,28(6):787-794
Mutations or exon deletions of the epsilon‐sarcoglycan (SGCE) gene cause myoclonus‐dystonia (M‐D), but a subset of M‐D patients are mutation‐negative and the sensitivity and specificity of current genetic testing criteria are unknown. We screened 46 newly enrolled M‐D patients for SGCE mutations and deletions; moreover, 24 subjects previously testing negative for SGCE mutations underwent gene dosage analysis. In our combined cohorts, we calculated sensitivity, specificity, positive and negative predictive values, and area under the curve of 2 published sets of M‐D diagnostic criteria. A stepwise logistic regression was used to assess which patients' characteristics best discriminated mutation carriers and to calculate a new mutation predictive score (“new score”), which we validated in previously published cohorts. Nine of 46 (19.5%) patients of the new cohort carried SCGE mutations, including 5 novel point mutations and 1 whole‐gene deletion; in the old cohort, 1 patient with a complex phenotype carried a 5.9‐Mb deletion encompassing SGCE. Current diagnostic criteria had a poor ability to discriminate SGCE‐positive from SGCE‐negative patients in our cohort; conversely, age of onset, especially if associated with psychiatric features (as included in the new score), showed the best discriminatory power to individuate SGCE mutation carriers, both in our cohort and in the validation cohort. Our results suggest that young age at onset of motor symptoms, especially in association with psychiatric disturbance, are strongly predictive for SGCE positivity. We suggest performing gene dosage analysis by multiple ligation‐dependent probe amplification (MLPA) to individuate large SGCE deletions that can be responsible for complex phenotypes. © 2013 Movement Disorder Society 相似文献
7.
Pierri Vincenzo Dagostino Sabino Vasta Rosario Ercoli Tommaso Piga Giuseppe Melas Valerio Bruder Francesca Conti Carlo Cappai Pier Francesco Manieli Cristina Melis Maurizio Floris Gianluca Melis Marta Muroni Antonella Maleci Alberto Defazio Giovanni 《Neurological sciences》2022,43(1):419-425
Neurological Sciences - To study for the first time the incidence of adult-onset CNS tumors in Southern Sardinia, Italy. Clinical records of patients > 18 years old who... 相似文献
8.
Ischemic preconditioning via epsilon protein kinase C activation requires cyclooxygenase-2 activation in vitro 总被引:2,自引:0,他引:2
The signaling pathway of cyclooxygenase-2 (COX-2) induction following ischemic preconditioning (IPC) in brain remains undefined. To determine role of COX-2 in ischemic preconditioning, we used two in vitro models: mixed cortical neuron/astrocyte cell cultures and organotypic hippocampal slice cultures. We simulated IPC by exposing cell or slice cultures to 1 h or 15 min of oxygen/glucose deprivation (OGD), respectively, 48 h prior to ischemia. To mimic ischemia in vitro, we exposed cell or slice cultures to OGD of 4 h or 40 min, respectively. In cell cultures, these experiments revealed that COX-2 induction peaked at 24 h following IPC in cell culture. Inhibition of COX-2 activation with 50 microM NS-398 (a COX-2 selective inhibitor) abolished IPC-mediated neuroprotection in both in vitro models. Next, we tested whether epsilon protein kinase C (epsilonPKC) and extracellular signal regulated kinase 1/2 (ERK1/2) activation was involved in IPC-mediated neuroprotection and COX-2 expression in cell culture. Cell cultures were treated with an epsilonPKC-specific activating peptide (psiepsilonRACK, 100 nM) for 1 h, and 48 h later were exposed to OGD. epsilonPKC activation increased ERK1/2 phosphorylation and COX-2 induction and conferred neuroprotection similar to IPC. Additionally, inhibition of either epsilonPKC or ERK1/2 activation abolished COX-2 expression and neuroprotection due to ischemic preconditioning. These results demonstrate a crucial role for the epsilonPKC-->ERK1/2-->COX-2 pathway in the induction of neuroprotection via ischemic preconditioning. 相似文献
9.
We studied the relationships between blepharospasm (BSP) and menopause/menarche in female patients with primary BSP (n = 83) and age-matched healthy (n = 83) and disease controls (n = 83). BSP patients and matched controls had comparable age at menopause, and there was no correlation between age at menopause and age at BSP onset. Thus, menopause probably exerts no significant influence on the age-dependent development of BSP. BSP cases tended to have a later menarche than either group of controls. The association was independent of age, disease duration and education level. Because the higher the age at menarche, the higher the age at BSP onset, later menarche was unlikely to be a risk factor for BSP. Rather, the two conditions may share pathophysiologic mechanisms, for example minor abnormality of neurotransmitter systems controlling both the motor system and the maturation of the hypothalamic-pituitary-gonadal axis responsible for the onset of puberty. 相似文献
10.
Possible risk factors for primary adult onset dystonia: a
case-control investigation by the Italian Movement Disorders Study
Group 总被引:2,自引:1,他引:1 下载免费PDF全文
G. Defazio A. Berardelli G. Abbruzzese V. Lepore V. Coviello D. Acquistapace L. Capus F. Carella M. T. De Berardinis G. Galardi P. Girlanda S. Maurri A. Albanese L. Bertolasi R. Liguori A. Rossi L. Santoro G. Tognoni P. Livrea 《Journal of neurology, neurosurgery, and psychiatry》1998,64(1):25-32
OBJECTIVES—Little is known about the aetiology ofidiopathic adult onset dystonia. The Italian Movement Disorders StudyGroup promoted a case-control study on some hypothetical risk factorsincluding past medical events, life events, life habits, occupationalhazards, and family hystory of dystonia, parkinsonism, and tremor.
METHODS—Cases affected by idiopathic adult onsetdystonia (age at symptom onset >20 years, duration of disease >oneyear and <five years) were selected among consecutive outpatientsattending 14Italian centres. Control outpatients matched for age(±5 years), sex, and referral centre were identified amongdiagnostic categories thought to be unassociated with studyexposures. Information was obtained by a standardised questionnaireadministered by medical interviewers. Conditional logistic univariateand multivariate regression analyses were performed by a standardstatistical package.
RESULTS—Multivariate analysis on 202 cases and 202 age and sex matched control outpatients indicated that head or facialtrauma with loss of consciousness, family history of dystonia, andfamily history of postural tremor independently increased the risk of developing adult onset dystonia, whereas hypertension and cigarette smoking exerted a protective effect. The findings also suggested apositive association between local body injury—for example, previousocular diseases and neck or trunk trauma—and dystonia of the same body part.
CONCLUSIONS—The results support the idea thatenvironmental and genetic factors may both be important in theaetiology of adult onset dystonia, and suggest aetiological cluesworthy of further analytical investigation.
相似文献
METHODS—Cases affected by idiopathic adult onsetdystonia (age at symptom onset >20 years, duration of disease >oneyear and <five years) were selected among consecutive outpatientsattending 14Italian centres. Control outpatients matched for age(±5 years), sex, and referral centre were identified amongdiagnostic categories thought to be unassociated with studyexposures. Information was obtained by a standardised questionnaireadministered by medical interviewers. Conditional logistic univariateand multivariate regression analyses were performed by a standardstatistical package.
RESULTS—Multivariate analysis on 202 cases and 202 age and sex matched control outpatients indicated that head or facialtrauma with loss of consciousness, family history of dystonia, andfamily history of postural tremor independently increased the risk of developing adult onset dystonia, whereas hypertension and cigarette smoking exerted a protective effect. The findings also suggested apositive association between local body injury—for example, previousocular diseases and neck or trunk trauma—and dystonia of the same body part.
CONCLUSIONS—The results support the idea thatenvironmental and genetic factors may both be important in theaetiology of adult onset dystonia, and suggest aetiological cluesworthy of further analytical investigation.
相似文献