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相关概念视频

Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Autism Spectrum Disorder01:19

Autism Spectrum Disorder

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Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
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Intellectual Disability01:29

Intellectual Disability

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Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
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相关实验视频

Updated: Jul 6, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

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屏幕Plus:一个全面的,多种疾病新生儿查计划.

Nicole R Kelly1, Joseph J Orsini2, Aaron J Goldenberg3

  • 1Department of Pediatrics, Albert Einstein College of Medicine and Children's Hospital at Montefiore, Bronx, NY 10467, USA.

Molecular genetics and metabolism reports
|January 4, 2024
PubMed
概括
此摘要是机器生成的。

屏幕Plus是纽约市的一个试点新生儿查 (NBS) 计划,为14种罕见的遗传疾病注册了超过10万名婴儿. 这项研究评估了查准确性,可行性和NBS扩展的伦理考虑.

关键词:
埃尔西·埃尔西是什么意思伦理学 伦理学 伦理学扩展条件 扩展条件新生儿查 新生儿查试点研究试点研究.研究研究研究研究研究研究.

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Universal Screening for Prevention of Reading, Writing, and Math Disabilities in Spanish
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Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
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Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis

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科学领域:

  • 医学遗传学 医学遗传学
  • 公共卫生 公共卫生
  • 生物伦理学生物伦理学

背景情况:

  • 新型疗法需要通过新生儿查 (NBS) 早期检测罕见的遗传疾病.
  • 试点NBS研究对于评估查可行性,准确性,疾病发病率以及伦理,法律和社会影响 (ELSI) 至关重要.

研究的目的:

  • 为了评估一个同意的NBS试点计划,ScreenPlus,在纽约市招收超过10万名婴儿.
  • 评估基于分析物的多层查平台,以提高检测14种罕见遗传疾病的准确性.
  • 收集有关ELSI与NBS扩张相关的主题的家长和利益相关者的意见.

主要方法:

  • 屏幕Plus使用了一种同意的,多层次的查平台,针对超过10万名婴儿的14种疾病.
  • 异常结果引发了确认性测试,管理和纵向结果数据收集.
  • 父母的同意是积极和被动地获得的,用于不同人群的翻译材料.
  • 在线调查捕捉了家长对NBS政策,血液斑点保留和疾病纳入的意见.

主要成果:

  • 屏幕Plus计划旨在招收超过10万名婴儿,提供关于查可行性和准确性的数据.
  • 基于利益相关方的多方赞助的融资模式支持试点项目.
  • 该研究将为广泛的疾病提供NBS的关键数据,并为道德敏感的决策提供信息.

结论:

  • 屏幕Plus作为多个赞助的NBS试点计划的模型.
  • 该计划将产生NBS扩张的基本数据,考虑技术和道德方面的因素.
  • 结果将指导政策制定用于新生儿罕见遗传疾病查.