在综合症罗宾序列中追赶增长:系统性审查
Sogand Schafer1, Jason Yu2,3, John Mulliken4
1Division of Plastic and Reconstructive Surgery, Department of Surgery, Center for Craniofacial Innovation, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
概括
在综合征罗宾序列 (RS) 中下的追赶增长不清楚. 一些RS综合征病例可能会显示自发的下生长,可能减少手术干预的需要.
科学领域:
- 面外科手术 面外科手术
- 儿科遗传学 儿科遗传学
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
背景情况:
- 罗宾序列 (RS) 的特征是微,光和呼吸道阻塞.
- 综合性RS包括大约60%的病例,下的生长模式不确定.
研究的目的:
- 系统地审查文献,以证实下下的追赶增长在综合征罗宾序列.
- 根据生长模式,评估RS综合征中保守管理的潜力.
主要方法:
- 进行了以PRISMA为指导的系统文献审查.
- 在PubMed数据库中搜索了保守管理的RS综合征研究.
- 包括病例报告,系列和图表审查与相关综合征和足够的后续.
主要成果:
- 包括34项研究,包括20个综合征中的202例病例.
- 斯蒂克勒综合征和22q11.2删除综合征是最常见的.
- 有证据表明,有可能实现平衡增长或追赶增长,但存在局限性.
结论:
- 现有的文献表明,在某些RS综合征群体中,可能出现自发下生长.
- 这可能会减少对外科手术的需要,例如分心骨质生成.
- 需要对标准化措施进行进一步的前性研究,以指导管理决策.
相关概念视频
Single Nucleotide Polymorphisms-SNPs
17.9K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
17.9K
Principles of Disease Surveillance
444
Disease surveillance is the systematic collection, analysis, and interpretation of health data essential to the planning, implementation, and evaluation of public health practice. This process integrates data dissemination to entities responsible for preventing and controlling disease, injury, and disability. Surveillance systems provide crucial information for action, helping public health authorities make informed decisions to manage and prevent outbreaks, ensure public safety, optimize...
444


