与PIK3CA相关的过度生长谱:探索从胎儿到婴儿的大脑生长
Beatriz Parreira Andrade1, Fátima Hierro2, Jorge Castro3
1Department of Pediatrics, Unidade Local de Saúde Médio Ave, Vila Nova de Famalicão, Portugal; Department of Neonatology, Unidade Local de Saúde de Vila Nova de Gaia, Vila Nova de Gaia, Portugal.
Pediatric neurology
|December 4, 2024
概括
大脑膜毛细膜形多微症综合征 (MCAP) 是一种罕见的遗传性疾病. 早期干预至关重要,但进展性并发症需要持续的多学科护理和神经成像监测PIK3CA相关的过度生长谱系障碍.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
背景情况:
- 大脑膜毛细细胞形多微症综合征 (MCAP) 是一种罕见的神经疾病.
- MCAP的特点是大脑异常大小,血管形和过度生长.
- 它源自PIK3CA基因的体质马赛克,是PIK3CA相关的过度生长谱的一部分.
相关概念视频
Three Developmental Domains
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.
Physical Development
Physical processes, also known as maturation, encompass the biological changes that occur across an individual's life. These changes begin with genetic inheritance and continue through various stages, including growth in height and weight,...
Physical Development
Physical processes, also known as maturation, encompass the biological changes that occur across an individual's life. These changes begin with genetic inheritance and continue through various stages, including growth in height and weight,...
Piaget's Stage 1 of Cognitive Development
The sensorimotor stage, the initial phase of Jean Piaget's theory of cognitive development, spans the first two years of a child's life. During this period, infants actively engage with their surroundings, building cognitive awareness through direct interaction with the world. This interaction is primarily based on sensory perception and motor actions, allowing infants to gradually understand basic physical properties and predict how objects interact within their environment.
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