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相关概念视频

Vascular Spasm01:16

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The vascular phase, also known as vasospasm, is the initial stage of hemostasis, crucial for preventing excessive bleeding when a blood vessel is injured. After a vessel is cut, nerves in the damaged area trigger pain and other sensory impulses. Simultaneously, the smooth muscles in the vessel wall contract, resulting in a vascular spasm. This contraction reduces the vessel's diameter at the injury site, slowing or stopping blood loss through the vessel wall. Vascular spasms typically last...
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Introduction to Developmental Psychology01:27

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Developmental psychology explores the changes and continuities in human abilities throughout life, encompassing physical, cognitive, linguistic, and social dimensions. Human development is not restricted to growth, but includes aspects of decline, particularly in physical abilities as individuals age. Developmental psychologists seek to understand how people change as they age and how their mental and social skills evolve.Developmental MilestonesA key concept in developmental psychology is...
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Human development is typically examined across three main domains: physical, cognitive, and socio-emotional. These domains represent the significant areas of change and continuity throughout the lifespan, from infancy to late adulthood.
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Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
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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,...
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Polymorphism refers to the existence of a drug substance in multiple crystalline forms, known as polymorphs. Recently, this term has been expanded to include solvates (forms containing a solvent), amorphous forms (non-crystalline forms), and desolvated solvates (forms from which the solvent has been removed).
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Electrophoretic Delivery of γ-aminobutyric Acid GABA into Epileptic Focus Prevents Seizures in Mice
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GRIN2D相关的发育和脑病变与多态发作相关,包括性.

L R Obregón Gómez1, M Juanes2, M S Touzon2

  • 1Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
|February 12, 2026
PubMed
概括

在GRIN2D基因中的遗传变异导致婴儿严重的神经发育障碍. 这个案例突出了与GRIN2D相关的发育性和性脑病变 (DEE) 以及它对大脑功能的影响.

关键词:
格林2D是什么意思?格林2D是什么意思婴儿发作的发作精准医学是一门精准医学.治疗抵抗性的治疗.

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科学领域:

  • 神经科学是一个神经科学.
  • 遗传学 遗传学 是一个
  • 儿科神经学 儿科神经学

背景情况:

  • 发育性和性脑病变 (DEE) 是一种严重的神经疾病,通常与遗传突变有关.
  • 谷氨酸性神经传递,特别是通过N-甲基-D-酸盐受体 (NMDAR),对于大脑发育和功能至关重要.
  • 在NMDAR子单元的突变越来越多地被认为是DEE的原因.

研究的目的:

  • 报告一种由新型GRIN2D基因变异引起的DEE病例.
  • 为GRIN2D相关DEE的表型特征作出贡献.
  • 强调NMDAR功能在早期和发育迟缓中的作用.

主要方法:

  • 一个患有DEE的11个月大的男孩的临床病例介绍.
  • 电脑电图 (EEG) 用于和大脑活动监测.
  • 整体外体测序 (WES) 用于遗传变异识别.

主要成果:

  • 该患者出现了早期发作的发作,发育迟缓和耐药性.
  • WES 发现了 GRIN2D 基因中的 de novo 可能的致病变体,影响关键的跨膜域 (M3).
  • 这是GRIN2D相关DEE的第14个报告病例,扩大了对其临床谱的理解.

结论:

  • GRIN2D基因变异是具有明显表型的DEE的重要原因.
  • 鉴定的M3域变异影响NMDAR功能,导致严重的神经功能损害.
  • 对GRIN2D相关疾病的进一步研究对于改善诊断和治疗策略至关重要.