|||
罕见病是一类慢性严重性疾病,半数罕见病患者在出生时或者儿童期即可发病,病情通常进展迅速,死亡率高。目前我国对罕见病认知严重不足,易误诊漏诊,部分罕见病无药可医,给患者诊治带来巨大阻碍。
推进儿童罕见病诊疗研究的发展,是儿童健康事业发展的重要内容之一,对于保障和改善民生、提高全民健康素质、实现中华民族伟大复兴的中国梦具有重要意义。为此,Science China Life Sciences(《中国科学:生命科学》英文版)特邀相关领域专家撰文,共同聚焦儿童罕见病,深入思考、探讨儿童罕见病的发生发展、诊断、治疗等疑难问题,为攻破儿童罕见病进行有益的探索。文章集成“Frontiers in rare diseases”专刊(“儿童罕见病专刊”),于2017年7月正式出版。
篇目如下,敬请关注
EDITORIAL
The challenge and promise of rare disease diagnosis in China
REVIEW
Towards efficiency in rare disease research: what is distinctive and important?
RESEARCH PAPER
►Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome
►AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade0–3)
►Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations
►DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma
►Detection of FOXO1 break-apart status byfluorescence in situ hybridization in atypical alveolar rhabdomyosarcoma
►Correlation between BRAFV600E mutation and clinicopathological features in pediatric papillary thyroid carcinoma
►Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome
►The clinical and genetic characteristics in children with mitochondrial disease in China
►Gene mutations and clinical phenotypes in Chinese children with Blau syndrome
►Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex
LETTER TO THE EDITOR
►Berry syndrome: a rare cardiac malformation with extra-cardiac findings
►Detection of mycobacterial and viral DNA in Kikuchi-Fujimoto disease: an analysis of 153 Chinese pediatric cases
►Analysis of diagnosis and treatment of lipoblastomatosis
欢迎免费下载阅读:
http://engine.scichina.com/publisher/scp/journal/SCLS/60/7?slug=Browse
Archiver|手机版|科学网 ( 京ICP备07017567号-12 )
GMT+8, 2024-8-22 11:21
Powered by ScienceNet.cn
Copyright © 2007- 中国科学报社