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第四纪研究 1991年第2期11卷 178-189页

作者： William r.Farrand 何皎密歇根大学地质科学系

本文详尽地考证了第四纪、更新世和全新世等几个地层术语的来历及这些术语在使用过程中的词义演变,并讨论了相关的问题。通过这些历史的回顾和问题的讨论,可概括地了解150多年来的地质思想的演变。

关键词：第四纪更新世全新世地层术语

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668例剖宫产指征的分析

同济医科大学学报 1995年第4期24卷 308-310页

作者：王松青深圳市福田人民医院妇产科

对深圳市福田人民医院１９９１年３月至１９９４年３月６６８例剖宫产产妇进行回顾性分析。结果显示：剖宫产率为９．９５％，手术主要指征为头盆不称、胎儿窘迫和胎位异常，分别占３１．２９％、２８．８９％和８．９８％。剖宫产并发... 详细信息

对深圳市福田人民医院１９９１年３月至１９９４年３月６６８例剖宫产产妇进行回顾性分析。结果显示：剖宫产率为９．９５％，手术主要指征为头盆不称、胎儿窘迫和胎位异常，分别占３１．２９％、２８．８９％和８．９８％。剖宫产并发症为９．２８％，围产儿死亡率为３．０％。剖宫产率、并发症率和围产儿死亡率均低于文献报道。提示，正确掌握剖宫产指征，严密观察下试产，可控制剖宫产率及降低母儿并发症。

关键词：剖腹胎儿窘迫症头盆不称

通过纯合子定位法确定的新的临床和分子类型的Unverricht-Lundborg病

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世界核心医学期刊文摘（神经病学分册） 2005年第8期1卷 16-16页

作者： Berkovic s.F. Mazarib A. Walid s. 郭俊 Epilepsy research Centre Neurosciences Building Repatriation Campus Heidelberg West Vic. 3081 Australia Dr.

Progressive myoclonus epilepsy (PME) has a number of causes,of which Unverrich t-Lundborg disease (ULD) is the most common. ULD has previously been mapped to a locus on chromosome 21 (EPM1). subsequently, mutations in the cystatin B gene have been found in most cases. In the present work we identified an inbred Arab family with a clinical pattern compatible with ULD, but mutations in the cystati n B gene were absent. We sought to characterize the clinical and molecular featu res of the disorder. The family was studied by multiple field trips to their tow n to clarify details of the complex consanguineous relationships and to personal ly examine the *** was collected for subsequent molecular analyses from 2 1 individuals. A genome-wide screen was performed using 811 microsatellite mark ers. Homozygosity mapping was used to identify loci of interest. There were eigh t affected *** onset was at 7.3 ±1.5 years with myoclonic or t onic-clonic seizures. All had myoclonus that progressed in severity over time a nd seven had tonic-clonic seizures. Ataxia, in addition to myoclonus, occurred in all. Detailed cognitive assessment was not possible, but there was no signifi cant progressive dementia. There was intrafamily variation in severity; three re quired wheelchairs in adult life; the others could walk unaided. MrI, muscle and skin biopsies on one individual were unremarkable. We mapped the family to a 15 -megabase region at the pericentromeric region of chromosome 12 with a maximum lod score of 6.32. Although the phenotype of individual subjects was typical of ULD, the mean age of onset (7.3 years versus 11 years for ULD) was younger. The locus on chromosome 12 does not contain genes for any other form of PME, nor doe s it have genes known to be related to cystatin *** represents a new form of PME and we have designated the locus as EPM1B.

关键词：纯合子定位法肌阵挛性癫痫蛋白酶抑制剂基因突变分子学皮肤活组织检查进行性痴呆基因座着丝粒共济失调

幼年发病的癫痫患者获得驾照与癫痫复发关系的研究

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世界核心医学期刊文摘（神经病学分册） 2005年第7期1卷 49-49页

作者： sillanpM. shinnar s. 邓剑平 Department of Public Health Turku University 20014 Turku Finland Dr.

Objective: To examine factors influencing obtaining a driver’s license and su bsequent prognosis among people with epilepsy vs control subjects. Methods: eigh ty-one patients from a population-based cohort with childhood-onset epilepsy, followed prospectively for 45 years, and 96 general population control subjects were compared with regard to driving licensing, seizure relapses, and accidents . results: By the end of the follow-up period, all 81 subjects had achieved at least one 2-year seizurefree interval in adulthood and were eligible for a driv er’s *** these, 64 vs 90%of control subjects had obtained a license (priable analysis, factors associated with not obtaining a dri ver’s license among subjects were female gender (relative risk [rr] 2.4, 95%CI 1.0 to 5.5, p = 0.02),nonidiopathic etiology (rr 2.0, 95%CI 1.1 to 3.8, p = 0. 02),and presence of learning disabilities (rr 2.0, 95%CI 1.2 to 3.2, p = 0.02). Having a driver’s license was associated with a higher rate of employment (rr 1.9, 95%CI 1.2 to 3.0, p =0.0002). relapses of seizures had occurred in 37%of the 81 patients theoretically eligible for a license but only in 25%of the 52 s ubjects who actually obtained one (P = 0.003). shortening the eligibility period from 2 to 1 year would not significantly alter the relapse rate in this populat ion. The accident rate was not increased among patients vs control subjects. Con clusions:During a long-term follow-up, differences in driving licensing betwee n patients with uncomplicated epilepsy and healthy control subjects persist desp ite legal eligibility. The lower actual relapse rates among those with epilepsy who obtain a license than in those who are eligible suggest that those at higher risk of relapse are less likely to obtain a license.

关键词： epilepsy seizure license childhood 学习障碍 persist 复发率 likely relapse actually

细胞色素C氧化酶缺乏的Leigh综合征伴sUrF1基因纯合突变

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世界核心医学期刊文摘（儿科学分册） 2005年第10期1卷 39-39页

作者： Monnot s. Chabrol B. Cano A. V. Paquis-Flucklinger 郭战宏 serv. de Genet. M ed. Hpital Archet 2 151 Rte. de S.-A.-de-Ginestiere 06202 Nice Cedex 03 France

Leigh syndrome is a heterogeneous disorder, usually due to a defect in oxidati ve metabolism. Mutations in sUrF1 gene have been identified in patients with cyt ochrome c oxidase deficiency. We report a homozygous splice site deletion [516- 2 516-1delAG] in a young girl presenting with cytochrome c oxidase-deficient L eigh syndrome. Identification of molecular defect is indispensable for genetic c ounselling and prenatal diagnosis.

关键词：纯合突变 Leigh sUrF1 细胞色素基因突变产前诊断遗传咨询剪接位点氧化代谢