在特纳综合征中平衡异常的高频率
Vanessa Brito Campoy Rocha1, Raquel Mezzalira2, Guita Stoler2
1Universidade Estadual de Campinas (Unicamp), Faculdade de Ciências Médicas (FCM), Programa de Pós-Graduação em Ciências Médicas, Campinas, SP, Brazil; Universidade Estadual de Campinas (Unicamp), Faculdade de Ciências Médicas (FCM), Departamento de Otorrinolaringologia, Cirurgia de Cabeça e Pescoço, Campinas, SP, Brazil.
Brazilian journal of otorhinolaryngology
|September 11, 2025
概括
患有特纳综合征 (TS) 的女性经常经历影响平衡和听力的内耳问题,即使没有明显的症状. 早期查和诸如前体康复等干预措施对于管理这些平衡异常至关重要.
科学领域:
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
- 神经学 神经学
- 遗传学 是一个遗传学.
背景情况:
- 特纳综合征 (TS) 与各种健康问题有关,但对迷宫功能和身体平衡的数据有限.
- 了解TS中前庭和听觉通路的参与对于全面的患者护理至关重要.
研究的目的:
- 彻底评估与特纳综合征的青少年和成年女性的身体平衡.
- 为了增加有关TS患者迷宫损伤的证据.
主要方法:
- 评估了27名TS患者和20名健康妇女,使用耳鼻喉学,听力学和前庭检测.
- 包括电子隐形影像,热量和旋转测试,前置体唤起的肌性潜能,和静脉影像.
主要成果:
- 78%的TS患者 (21/27) 有平衡异常,明显高于对照组 (25%,p < 0.001).
- 19名TS患者患有前体病变 (12个外围病变,4个联合病变,3个中心病变);6人患有非前体缺陷.
- 平衡问题与型或听力损伤无关.
结论:
- 转移性耳道症患者表现出高比例的内耳透,影响听觉和前庭通路,通常是亚临床的.
- 综合性查和干预措施,如前庭康复,建议用于TS临床后续.
相关概念视频
Meiosis vs. Mitosis
69.4K
Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
69.4K
Nondisjunction
81.8K
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
81.8K
Nondisjunction
4.8K
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
4.8K
Meiosis I
218.0K
Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...
218.0K
Autism Spectrum Disorder
994
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.
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.
994


