Acta neurologica最新文献_第7页

Multiple cerebral infarctions in a young patient with secondary thrombocythemia due to iron deficiency anemia. 缺铁性贫血导致继发性血小板增多症的年轻患者多发脑梗死。

Acta neurologica Pub Date : 1993-08-01

V K Saxena, C Brands, R Crols, E Moens, P Marien, P P de Deyn

引用次数: 0

Acid maltase deficiency in childhood. Early diagnosis and clinical follow-up of late-onset glycogen storage disease type II. 儿童期酸性麦芽糖酶缺乏。迟发性糖原储存病II型的早期诊断与临床随访。

Acta neurologica Pub Date : 1993-08-01

M T di Fiore, R Manfredi, L Marri, A Zucchini, L Azzaroli, G Manfredi

{"title":"Acid maltase deficiency in childhood. Early diagnosis and clinical follow-up of late-onset glycogen storage disease type II.","authors":"M T di Fiore, R Manfredi, L Marri, A Zucchini, L Azzaroli, G Manfredi","doi":"","DOIUrl":"","url":null,"abstract":"A case is described of late-onset glycogenosis type II presenting with an isolated rise in serum transaminase levels. Histological, histochemical, ultrastructural and biochemical examinations performed on muscle biopsy showed the typical laboratory features of late-onset glycogenosis type II, which was diagnosed more than four years before the first appearance of disease-related signs and symptoms. A heterozygote status for the same defect was also demonstrated by enzyme assays in both parents, thus confirming the autosomal recessive mode of inheritance of the disorder. Even though an elevation in transaminases and other serum enzymes of possible muscle origin has been previously described as a diagnostic clue in some unsuspected muscular diseases in childhood, as far as we know no other patient with a sporadic form of glycogenosis type II has been identified when still completely asymptomatic. The possibility of silent primary metabolic diseases and myopathies should be carefully considered when evaluating children with persistently elevated serum transaminases, even in the absence of suggestive anamnestic, familial and physical findings, in order to obtain an early diagnosis and to provide an appropriate genetic counselling.","PeriodicalId":6970,"journal":{"name":"Acta neurologica","volume":"15 4","pages":"258-67"},"PeriodicalIF":0.0,"publicationDate":"1993-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19239151","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

Patterns of line bisection in patients suffering from unilateral spatial neglect. 单侧空间忽视患者的线平分模式。

Acta neurologica Pub Date : 1993-08-01

S Carlomagno, V Parlato, A Belfiore, A Silvano, M Vanderlinden, X Seron

引用次数: 0

Transient "cerebellar" mutism in lesions of the mesencephalic-cerebellar region. 中脑-小脑区病变中一过性“小脑性”缄默症。

Acta neurologica Pub Date : 1993-08-01

R D'Avanzo, A Scuotto, M Natale, P Scotto, F A Cioffi

引用次数: 0

Antiphospholipid antibodies and cerebrovascular disease. 抗磷脂抗体与脑血管疾病。

Acta neurologica Pub Date : 1993-08-01

G Orefice, P R Ames, M Coppola, G Campanella

引用次数: 0

Paroxystic neuropsychological symptoms as the early expression of hepatic encephalopathy. A case report. 发作性神经心理症状作为肝性脑病的早期表现。一份病例报告。

Acta neurologica Pub Date : 1993-08-01

H Abts, R Crols, P Mariën, J Saerens, J Holvoet, P de Deyn

引用次数: 0

Thymectomy for myasthenia gravis: predictive factors and long term evolution. A retrospective study on 46 patients. 胸腺切除术治疗重症肌无力:预测因素和长期演变。对46例患者进行回顾性研究。

Acta neurologica Pub Date : 1993-08-01

E Marano, G Pagano, G Persico, S Striano, G A Buscaino, G Campanella

引用次数: 0

[Heparin and ischemic stroke]. [肝素与缺血性中风]。

Acta neurologica Pub Date : 1993-06-01

A Tessitore, O Di Marco, A M Mugnano

引用次数: 0

Mortality study on multiple sclerosis in the province of Ferrara, northern Italy, 1968 through 1989. 1968 - 1989年意大利北部费拉拉省多发性硬化症死亡率研究

Acta neurologica Pub Date : 1993-06-01

V Govoni, I Casetta, E Granieri, V Vernonesi, S Malagù, M R Tola, E Paolino, E Fainardi, V C Monetti, I Aiello

{"title":"Mortality study on multiple sclerosis in the province of Ferrara, northern Italy, 1968 through 1989.","authors":"V Govoni, I Casetta, E Granieri, V Vernonesi, S Malagù, M R Tola, E Paolino, E Fainardi, V C Monetti, I Aiello","doi":"","DOIUrl":"","url":null,"abstract":"A mortality study on Multiple Sclerosis (MS) was carried out in the province of Ferrara, Northern Italy, over the years from 1968 to 1989 (mean population 382,379 inhabitants) to outline the temporal trend of the disease in the residing population that can be regarded as a representative sample of the caucasians of Northern Italy. Given the difficulties in performing retrospective incidence studies over long time periods, the mortality rate was used as an indirect indicator of MS occurrence. Through a review of mortality tabulations with 340-345 ICD code and an intensive survey of all the MS cases, with successive check of the deceased ones at the general register offices of the study area communes, 56 MS patients who had lived and died in the province of Ferrara in the period 1968-1989 were selected with an average crude death rate of 0.67 per 100,000 per year (95% confidence interval: 0.51-0.87), 0.55 per 100,000 if adjusted to the Italian population. The death rate was stable over the considered time period with only a slight but insignificant increase in the last years of the survey. No differences were found among the rates from the 5 Local Health Units (USLs) in which the study territory is subdivided. The highest age-specific death rates were in the fifth and sixth decade of life and the average duration was 21.17 +/- 11.05 years. The results are consistent with a relatively stable MS risk in the population of the province of Ferrara and a homogeneous occurrence of the disease in the study territory.","PeriodicalId":6970,"journal":{"name":"Acta neurologica","volume":"15 3","pages":"161-76"},"PeriodicalIF":0.0,"publicationDate":"1993-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19226209","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

Urticarioid manifestation in course of cerebral imported malaria. 脑型输入性疟疾病程中的荨麻疹表现。

Acta neurologica Pub Date : 1993-06-01

F Loschiavo, T Ventura-Spagnolo, P Di Bella, P Bramanti

引用次数: 0