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首页 > 医学词汇大全 > Galactosemia
Galactosemia

内分泌

关键词内分泌 疾病 遗传代谢疾病

词汇介绍

拓展阅读

解析

Galactosemia   英/ɡə'læktə'sɪmɪə/   美/ɡə,læktə'simiə/

释    义   n. [遗] 半乳糖血(症)

例    句   The classical form of galactosemia is characterized by vomiting, diarrhea, jaundice and failure to thrive within a few days after birth. 半乳糖血症的典型症状是婴儿出生几天后出现呕吐,腹泻,黄疸和营养不能被吸收。

概述

半乳糖血症是一种罕见的遗传代谢疾病,会影响个体正常代谢半乳糖的能力。半乳糖血症遵循常染色体隐性遗传方式,该方式使得负责半乳糖降解的酶缺乏。半乳糖血症以常染色体隐性方式遗传,这意味着孩子必须从每个父母那里遗传一个有缺陷的基因才能显示出这种疾病。杂合子是载体,因为它们继承一个正常基因和一个缺陷基因,携带者没有半乳糖血症的症状。诊断方法新生儿筛查(NBS)(如果可用)能够诊断大多数受影响的婴儿。如果婴儿一家有半乳糖血症的病史,医生可以在出生前通过从胎儿周围(羊膜腔穿刺术)或胎盘(绒毛膜绒毛取样或C

Cognitive functioning in patients with classical galactosemia: a systematic review复制标题

经典半乳糖血症患者认知功能的系统评价

发表时间:2019-10-18

影响因子:3.7

作者: Merel E Hermans

期刊:Orphanet J Rare Dis

The current systematic review examined the incidence of cognitive impairment in patients with CG and reviewed the impairment in specific cognitive domains. Eleven studies were identified, including three case reports and one case-series. Of the eight studies investigating multiple patients, the quality was in seven studies moderate to low. Moreover, the number of studies per cognitive domain was low. The review revealed that large differences exist amongst patients with CG. The averaged performance of the patients reported in each group study was often on a below average to low level, while a proportion of the patients performed on an impaired level. Twenty to 40 % of the patients performed on an impaired level on attention and memory, and, according to one study, on working memory. The range of vocabulary performances of the individual patients also exceeded the level of impairment, however specific percentages of the proportion of patients performing on an impaired level remained unknown. Evidence for impairments in other aspects of language functioning was mainly limited to case studies. The average level of performance did reach an impaired level for information processing speed, space perception, cognitive flexibility and cognitive inhibition, but the evidence was based on only a small number of studies. There is some indication that abstract thinking and visuoconstruction are relatively spared. Social cognition was not investigated at all. These results suggest that specific cognitive impairments indeed underlie the lower level of intellectual functioning. However, a specific cognitive profile cannot be determined due to individual differences between patients and limited number of merely small studies. A large number of studies investigating cognition in CG was excluded in this review since they only utilized developmental screening- or intelligence batteries. This represents the initial main focus on clinically assessing developmental delay and intelligence only in patients with CG.

译文

当前的系统评价检查了CG患者认知障碍的发生率,并回顾了特定认知领域的障碍。确定了11项研究,包括3例病例报告和一个病例系列。在研究多名患者的八项研究中,七项研究的质量为中到低。此外,每个认知领域的研究数量很少。审查显示,CG患者之间存在很大差异。每个组研究中报告的患者平均表现通常低于平均水平或较低水平,而一部分患者的表现却较弱。一项研究表明,有20%到40%的患者在注意力和记忆力以及工作记忆方面表现不佳。个别患者的词汇表现范围也超过了障碍水平,但是在障碍水平上表现的患者比例的特定百分比仍然未知。语言功能其他方面存在障碍的证据主要限于案例研究。信息处理速度,空间知觉,认知灵活性和认知抑制的平均水平确实达到了受损的水平,但是证据仅基于少量的研究。有迹象表明,抽象思维和视觉建构是相对幸免的。根本没有调查社会认知。这些结果表明,特定的认知障碍确实是较低的智力功能的基础。但是,由于患者之间的个体差异以及数量有限的小规模研究,无法确定具体的认知特征。本研究不包括大量研究CG认知的研究,因为它们仅使用发育筛查或智力电池。这代表了最初的主要重点是仅在CG患者中临床评估发育延迟和智力。