Italian journal of neurological sciences最新文献

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Functional roles of dystrophin and of associated proteins. New insights for the sarcoglycans. 肌营养不良蛋白及相关蛋白的功能作用。对肌聚糖的新认识。
Italian journal of neurological sciences Pub Date : 1999-12-01 DOI: 10.1007/s100720050054
R Betto, D Biral, D Sandonà
{"title":"Functional roles of dystrophin and of associated proteins. New insights for the sarcoglycans.","authors":"R Betto, D Biral, D Sandonà","doi":"10.1007/s100720050054","DOIUrl":"10.1007/s100720050054","url":null,"abstract":"<p><p>The discovery of the dystrophin gene, whose mutations lead to Duchenne's and Becker's muscular dystrophy (DMD and BMD), represents the first important landmark by which, in the last ten years, molecular biology and genetic studies have revealed many of the molecular defects of the major muscular dystrophies. Very rapidly, several studies revealed the presence at skeletal and cardiac muscle sarcolemma of a group of proteins associated to dystrophin. This includes a set of five transmembrane glycoproteins, the sarcoglycans, whose physiological role, however, is still poorly understood. Dystrophin and the associated proteins are believed to play an important role in membrane stability and maintenance during muscle contraction and relaxation. However, the absence of sarcoglycans from sarcolemma does not appear to affect membrane integrity suggesting that these components of the dystrophin complex are recipients of other important functions. This review deals with recent advances in the knowledge of sarcoglycan function and organization that may give important insights into the pathogenetic mechanisms of muscular dystrophies.</p>","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 6","pages":"371-9"},"PeriodicalIF":0.0,"publicationDate":"1999-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21775631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Familiar protein C deficiency and cerebral vein thrombosis in a young adult patient. 常见蛋白C缺乏与年轻成人脑静脉血栓的关系。
Italian journal of neurological sciences Pub Date : 1999-10-01 DOI: 10.1007/s100720050050
F Villani, L Chiapparini, D Croci
{"title":"Familiar protein C deficiency and cerebral vein thrombosis in a young adult patient.","authors":"F Villani,&nbsp;L Chiapparini,&nbsp;D Croci","doi":"10.1007/s100720050050","DOIUrl":"https://doi.org/10.1007/s100720050050","url":null,"abstract":"","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 5","pages":"333-4"},"PeriodicalIF":0.0,"publicationDate":"1999-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s100720050050","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21772247","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Interferon beta treatment in relapsing-remitting multiple sclerosis: a post-marketing study in Lombardia, Italy. Multiple Sclerosis Centers of Lombardia, Italy. 干扰素治疗复发缓解型多发性硬化症:意大利伦巴第的上市后研究意大利伦巴第多发性硬化症中心。
Italian journal of neurological sciences Pub Date : 1999-10-01 DOI: 10.1007/s100720050044
C Milanese, L La Mantia, R Palumbo
{"title":"Interferon beta treatment in relapsing-remitting multiple sclerosis: a post-marketing study in Lombardia, Italy. Multiple Sclerosis Centers of Lombardia, Italy.","authors":"C Milanese,&nbsp;L La Mantia,&nbsp;R Palumbo","doi":"10.1007/s100720050044","DOIUrl":"https://doi.org/10.1007/s100720050044","url":null,"abstract":"<p><p>The aim of the study was to evaluate the efficacy of interferon beta-1a (IFN-beta-1a) and beta-1b (IFN-beta-1b) in clinical practice for the treatment of relapsing-remitting multiple sclerosis (RR MS). Patients were selected and prospectively monitored according to a predefined protocol. An appropriate form was prepared to collect clinical data of multiple sclerosis patients attending the MS Centers of Lombardia, Italy. On 30 June 1998, 317 patients were treated with IFN-beta-1b and 156 with IFN-beta-1a. Basal expanded disability status scale (EDSS) and relapse frequency were similar in both groups of patients. The annual relapse rate consistently decreased from 1.76 to 0.63 at 1 year and to 0.51 at 2 years for the IFN-beta-1b group and from 1.6 to 1.0 at 1 year for the IFN-beta-1a group. Disability remained stable in most patients. Dropouts (20.5%) were affected by more active disease compared to patients who continued to be treated. This study confirms the efficacy of both treatments, showing a more marked effect than expected from the clinical trials' results, probably due to differences in selection criteria and exclusion of dropouts.</p>","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 5","pages":"297-302"},"PeriodicalIF":0.0,"publicationDate":"1999-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s100720050044","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21772342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Chronic neuroborreliosis in infancy. 婴儿期慢性神经螺旋体病。
Italian journal of neurological sciences Pub Date : 1999-10-01 DOI: 10.1007/s100720050045
N Zamponi, C Cardinali, M A Tavoni, L Porfiri, R Rossi, A Manca
{"title":"Chronic neuroborreliosis in infancy.","authors":"N Zamponi,&nbsp;C Cardinali,&nbsp;M A Tavoni,&nbsp;L Porfiri,&nbsp;R Rossi,&nbsp;A Manca","doi":"10.1007/s100720050045","DOIUrl":"https://doi.org/10.1007/s100720050045","url":null,"abstract":"<p><p>Lyme disease is a polymorphic and multisystemic disease caused by Borrelia burgdorferi. Neurological manifestations are found in 10%-50% of cases. We present 2 cases followed for 5 and 6 years of chronic relapsing-remitting neuroborreliosis. Diagnosis of neuroborreliosis in these cases was based on serum and cerebrospinal fluid findings. We discuss clinical, neurophysiological, laboratory and instrumental aspects regarding the difficulties of reaching a correct diagnosis. Further studies, especially in the field of immunology, should help identify the mechanisms responsible for the disease becoming chronic. With this knowledge, it may be possible to design immunological therapies for relapses, and to prevent the evolution of the disease.</p>","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 5","pages":"303-7"},"PeriodicalIF":0.0,"publicationDate":"1999-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s100720050045","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21772343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Transitory and permanent visual field defects induced by occipital lobe seizures. 枕叶癫痫引起的暂时性和永久性视野缺损。
Italian journal of neurological sciences Pub Date : 1999-10-01 DOI: 10.1007/s100720050048
G Valli, S Zago, A Cappellari, A Bersano
{"title":"Transitory and permanent visual field defects induced by occipital lobe seizures.","authors":"G Valli,&nbsp;S Zago,&nbsp;A Cappellari,&nbsp;A Bersano","doi":"10.1007/s100720050048","DOIUrl":"https://doi.org/10.1007/s100720050048","url":null,"abstract":"<p><p>Visual field defects are rarely associated with epilepsy. We report two patients with a long history of cryptogenetic occipital epilepsy. Both patients suffer complex partial crises accompanied by concentric reduction of the visual field followed, in the first one, by a prolonged left homonymous hemianopsia, and in the second one, by a permanent right inferior quadrantopsia. Occipital and occipito-temporal epileptic activity has been registered between seizures in both patients, and in one patient also during the seizure itself. Differential diagnosis has been considered, especially with migraine.</p>","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 5","pages":"321-5"},"PeriodicalIF":0.0,"publicationDate":"1999-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s100720050048","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21772245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
Usefulness of segmental and comparative tests in the electrodiagnosis of carpal tunnel syndrome: the Italian multicenter study. Italian CTS Study Group. 节段性和比较性试验在腕管综合征电诊断中的有效性:意大利多中心研究。意大利语CTS学习小组。
Italian journal of neurological sciences Pub Date : 1999-10-01 DOI: 10.1007/s100720050047
L Padua, F Giannini, P Girlanda, A Insola, R Luchetti, M Lo Monaco, R Padua, A Uncini, P Tonali
{"title":"Usefulness of segmental and comparative tests in the electrodiagnosis of carpal tunnel syndrome: the Italian multicenter study. Italian CTS Study Group.","authors":"L Padua,&nbsp;F Giannini,&nbsp;P Girlanda,&nbsp;A Insola,&nbsp;R Luchetti,&nbsp;M Lo Monaco,&nbsp;R Padua,&nbsp;A Uncini,&nbsp;P Tonali","doi":"10.1007/s100720050047","DOIUrl":"https://doi.org/10.1007/s100720050047","url":null,"abstract":"<p><p>The Italian CTS Study Group performed a wide multicentric and multiparametric study to quantify the increase of electrodiagnostic sensitivity using an extended neurophysiological protocol and particularly segmental and comparative tests. The study also evaluated the clinical features of carpal tunnel syndrome (CTS) diagnosed by these tests, using validated physician- and patient-oriented measurements. The study group was composed of 740 patients for a total of 1123 idiopathic CTS hands. Overall, the sensitivity of standard tests (median digit-wrist sensory conduction velocity and wrist-thenar distal motor latency) was 83.5%. Comparative/segmental tests disclosed abnormal findings in a further 11.4% of cases, providing CTS electrodiagnosis in about 7 of 10 \"standard negative\" cases. The overall sensitivity of the electrodiagnostic protocol was 94.9%. The CTS population diagnosed by segmental/comparative tests had a clinical picture characterized by a high percentage of pain, and severe discomfort but no limitation in functional daily activity. Our data confirm the usefulness of a complete neurophysiological assessment by using segmental/comparative tests when standard tests yield normal results.</p>","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 5","pages":"315-20"},"PeriodicalIF":0.0,"publicationDate":"1999-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s100720050047","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21772244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 26
Italian multicentre study of carpal tunnel syndrome: clinical-neurophysiological picture and diagnostic pathway in 461 patients and differences between the populations enrolled in the northern, central and southern centres. Italian CTS Study Group. 意大利腕管综合征的多中心研究:461例患者的临床神经生理学图像和诊断途径,以及在北部、中部和南部中心登记的人群之间的差异。意大利语CTS学习小组。
Italian journal of neurological sciences Pub Date : 1999-10-01 DOI: 10.1007/s100720050046
L Padua, I Aprile, M Lo Monaco, R Padua, P Pasqualetti, M Nazzaro, P Tonali
{"title":"Italian multicentre study of carpal tunnel syndrome: clinical-neurophysiological picture and diagnostic pathway in 461 patients and differences between the populations enrolled in the northern, central and southern centres. Italian CTS Study Group.","authors":"L Padua,&nbsp;I Aprile,&nbsp;M Lo Monaco,&nbsp;R Padua,&nbsp;P Pasqualetti,&nbsp;M Nazzaro,&nbsp;P Tonali","doi":"10.1007/s100720050046","DOIUrl":"https://doi.org/10.1007/s100720050046","url":null,"abstract":"<p><p>The economic trend in our country, as in other countries, now requires us to pay more attention to the social and economic aspects of health. Therefore, it is important to evaluate the diagnostic pathway and the socioeconomic aspects of pathologies. The Italian CTS Study Group performed a wide multicentre and multidimensional study (through a patient-, physician- and neurophysiologically oriented evaluation) on 461 idiopathic CTS patients to evaluate the clinical-neurophysiological picture and the diagnostic pathway. The whole population and the differences between the populations enrolled in the neurophysiological centres of the northern, central and southern parts of Italy were analysed. This study provided new and interesting information. As concerns the whole population, we observed different diagnostic pathways in relation to the level of schooling. As concerns the comparison of the populations, the southern centres have a population of CTS patients with higher frequency of hand stress and more severe nerve impairment.</p>","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 5","pages":"309-13"},"PeriodicalIF":0.0,"publicationDate":"1999-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s100720050046","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21772243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 14
LICE (Italian League against epilepsy) National Congress in collaboration with the Italian Society of Clinical Neurophysiology. 23-26 June 1999, Roma, Italy. Abstracts. 意大利抗癫痫联盟与意大利临床神经生理学学会合作召开的全国大会,1999年6月23日至26日,意大利罗马。摘要。
{"title":"LICE (Italian League against epilepsy) National Congress in collaboration with the Italian Society of Clinical Neurophysiology. 23-26 June 1999, Roma, Italy. Abstracts.","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 5","pages":"337-61"},"PeriodicalIF":0.0,"publicationDate":"1999-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21804778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A case of segmental myoclonus in amputation stump: evidence for spinal generator and physiopathogenetic hypothesis. 断肢残端节段性肌阵挛1例:脊髓发生及生理病理假说的证据。
Italian journal of neurological sciences Pub Date : 1999-10-01 DOI: 10.1007/s100720050049
F Devetag Chalaupka, M Bernardi
{"title":"A case of segmental myoclonus in amputation stump: evidence for spinal generator and physiopathogenetic hypothesis.","authors":"F Devetag Chalaupka,&nbsp;M Bernardi","doi":"10.1007/s100720050049","DOIUrl":"https://doi.org/10.1007/s100720050049","url":null,"abstract":"<p><p>We describe a 68-year-old woman who experienced pain and phantom limb sensation following an above-the-knee amputation of the right leg. A month later, the patient had myoclonic jerks of the stump. Polymyo-graphic recordings showed synchronous jerks in the vastus medialis and adductors of the thigh on the right side. The patient responded to clonazepam. We conclude that the myoclonic jerks were of spinal cord origin.</p>","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 5","pages":"327-31"},"PeriodicalIF":0.0,"publicationDate":"1999-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s100720050049","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21772246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 12
Assessing olfaction in the Italian population: methodology and clinical application. 评估嗅觉在意大利人口:方法和临床应用。
Italian journal of neurological sciences Pub Date : 1999-10-01 DOI: 10.1007/s100720050043
S Parola, P Liberini
{"title":"Assessing olfaction in the Italian population: methodology and clinical application.","authors":"S Parola,&nbsp;P Liberini","doi":"10.1007/s100720050043","DOIUrl":"https://doi.org/10.1007/s100720050043","url":null,"abstract":"<p><p>Disorders of the sense of smell are receiving growing clinical as well as experimental attention. Indeed, several neurological conditions have been associated with peripheral or central deficits of the olfactory system. In recent years, particular emphasis has been attributed to the early and severe olfactory impairment in neurodegenerative diseases, such as Alzheimer's dementia and Parkinson's disease. Olfactory assessment has also been included in comprehensive pre- and post-surgical evaluations of temporal lobe epilepsy. Moreover, the request for standardized methods of olfactory evaluation by forensic and occupational medicine is greatly increasing. Despite this requirement, there is no agreement in the Italian neurological community on olfactory assessment. This lack prompted us to generate a battery of standardized tests capable of bypassing cross-cultural differences in olfactory assessment and to be potentially useful in the clinical as well as experimental settings. Procedures of assessment of olfactory acuity (detection threshold), identification (multiple choice odor naming), discrimination (differentiation between similar/dissimilar odorants) and memory (recognition of a substance previously smelled) are fully described. In order to control bias factors depending upon the nature of the investigated disorder and the applied olfactory tasks, a minimal complementary neuropsychological assessment is recommended.</p>","PeriodicalId":73522,"journal":{"name":"Italian journal of neurological sciences","volume":"20 5","pages":"287-96"},"PeriodicalIF":0.0,"publicationDate":"1999-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s100720050043","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21772341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 30
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