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Developmental medicine and child neurology Aicardi-gouti è res综合征的治疗。

影响因子：4.864 DOI：10.1111/dmcn.14268

作者： Crow YJ,Shetty J,Livingston JH 发表时间：2020-07-10 14:05:35

from：《DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY》

keywords： Crow YJShetty JLivingston JH

关键词：

Abstract

:Comprehensive reviews of the clinical characteristics and pathogenesis of Aicardi-Goutières syndrome (AGS), particularly its contextualization within a putative type I interferonopathy framework, already exist. However, recent reports of attempts at treatment suggest that an assessment of the field from a therapeutic perspective is warranted at this time. Here, we briefly summarize the neurological phenotypes associated with mutations in the seven genes so far associated with AGS, rehearse current knowledge of the pathology as it relates to possible treatment approaches, critically appraise the potential utility of therapies, and discuss the challenges in assessing clinical efficacy. WHAT THIS PAPER ADDS: Progress in understanding AGS disease pathogenesis has led to the first attempts at targeted treatment. Further rational therapies are expected to become available in the short- to medium-term.

摘要

: 对Aicardi-gouti è res综合征 (AGS) 的临床特征和发病机制的全面综述，特别是其在推定的I型干扰素病框架内的语境化，已经存在。然而，最近尝试治疗的报告表明，此时需要从治疗角度对该领域进行评估。在这里，我们简要总结了到目前为止与AGS相关的七个基因突变相关的神经表型，排练了目前与可能的治疗方法相关的病理学知识，批判性地评估治疗的潜在效用，并讨论评估临床疗效的挑战。本文补充道: 理解AGS疾病发病机制的进展导致了靶向治疗的首次尝试。进一步的合理疗法有望在中短期内问世。

期刊介绍

《DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY》 (点击进入期刊详情)

英文简介 : Developmental Medicine & Child Neurology (DMCN) is a multidisciplinary journal that has defined the fields of paediatric neurology and childhood-onset neurodisability for over 60 years. DMCN disseminates the latest clinical research results globally to enhance the care and improve the lives of disabled children and their families. DMCN is a Mac Keith Press publication and is the official journal of the AACPDM, AusACPDM, BACD, BPNA, EACD, and Mexican Academy for Cerebral Palsy and Neurodevelopmental Disorders.

中文简介 : （来自Google、百度翻译）《发育医学与儿童神经病学》(DMCN)是一份多学科期刊，定义了儿科神经病学和儿童起病神经功能障碍的领域超过60年。DMCN在全球传播最新的临床研究成果，以加强对残疾儿童及其家庭的护理和改善其生活。DMCN是Mac Keith的新闻出版物，是AACPDM、AusACPDM、BACD、BPNA、EACD和墨西哥脑瘫和神经发育障碍学会的官方期刊。

CIRCULATION RESEARCH 期刊中科院评价数据

新中科院分区

大类(学科)	小类(学科)	学科排名
医学	PEDIATRICS (儿科) CLINICAL NEUROLOGY (临床神经病学)	65/197 11/124

大类(学科)

小类(学科)

学科排名

医学

PEDIATRICS (儿科)

CLINICAL NEUROLOGY (临床神经病学)

65/197
11/124

新发布的期刊年发文量

年度总发文量	年度论文发表量	年度综述发表量
159	124	35

总被引频次 :12256

特征因子 : 0.013840

影响因子趋势图

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