相关实验视频
Updated: Jan 20, 2026
01:28
Report Preparation & Presentation
604
病例报告:Loeys-Dietz综合征I型患者罕见出现牙异常
Priyam Jani1, Olivier Duverger1, Rashmi Mishra1,2
1Craniofacial Anomalies and Regeneration Section, National Institute of Craniofacial and Dental Research, National Institutes of Health, Bethesda, MD, United States.
Frontiers in dental medicine
|January 19, 2026
概括
由TGFBR1突变引起的Loeys-Dietz综合征1型 (LDS1),可以表现为牙异常,如牙生殖不完美. 这些罕见的牙科发现凸显了该综合征的可变表现和潜在的早期症状.
科学领域:
- 遗传学 是一个遗传学.
- 牙科 牙科是指牙科的专业.
- 罕见疾病 罕见疾病
背景情况:
- 洛伊斯-迪茨综合征1型 (LDS1) 与转化生长因子-β受体1 (TGFBR1) 基因的突变有关.
- 以前的研究表明,LDS1患者经常出现口腔表现和牙缺陷,但牙异常并不常见.
- TGFBR1对牙细胞功能和牙发育至关重要,这在小鼠模型中得到证实.
研究的目的:
- 报告和确认两个LDS1.1个体的牙异常.
- 描述这些罕见的牙科症状的临床和放射性发现.
- 强调LDS1的可变表型效应和牙异常的可能性作为早期指标.
主要方法:
- 对患有LDS的受影响个体进行临床检查1.1.
- 牙结构的放射性评估,包括脉通道和牙形态.
- 基因分析证实存在一个特定的TGFBR1突变 (c.1459C>T,p.Arg487Trp).
主要成果:
- 带有LDS1的探针表现出牙生殖不完美 (DI) 的特征灰色棕色牙变色.
- 放射图显示了消灭或狭窄的脉通道,偏爱的是上前牙.
- 试验者的儿子携带同样的突变,在母牙中有DI的病史,观察到正常的永久牙.
结论:
- 本报告介绍了LDS1个体中异常牙的罕见发生情况,具体与TGFBR1突变有关.
- 牙异常,如DI,可以是LDS1的显著表现,强调该综合征的多器官效应.
- 这些发现强调了认识到牙异常是这种危及生命的全身性疾病的潜在早期迹象的重要性.
相关概念视频
Report Preparation & Presentation
604
In marketing research, effectively conveying findings and recommendations to stakeholders is crucial. The process involves several key steps, such as organizing the data, designing the document, and delivering the information clearly and impactfully.
Report Preparation
The preparation phase starts with organizing the data collected during the research. This data must be categorized and analyzed to ensure the report is based on accurate and relevant information. The next step is determining the...
Report Preparation
The preparation phase starts with organizing the data collected during the research. This data must be categorized and analyzed to ensure the report is based on accurate and relevant information. The next step is determining the...
604
Types of Reports I: Hands-off Report
1.5K
A hand-off report, also known as a change-of-shift report, is a crucial nursing process that ensures the smooth transition of patient care responsibilities between nursing staff.
Following are the key components and categories of hand-off reports:
Purpose and Process:
Following are the key components and categories of hand-off reports:
Purpose and Process:
1.5K
Types of Reports II: Incident or Occurrence Report
1.2K
An Incident or Occurrence Report in a healthcare setting is a crucial document used to record any unexpected occurrence that may or may not have affected a patient, employee, or visitor. Such reports are critical to improving patient safety and include all details leading up to and including the event.
Purposes:
In the healthcare industry, reports play a crucial role in documenting incidents within an agency. The primary objective of these reports is to ensure patient safety, uphold the...
Purposes:
In the healthcare industry, reports play a crucial role in documenting incidents within an agency. The primary objective of these reports is to ensure patient safety, uphold the...
1.2K
Types of Reports III: Telephone and Verbal Reports
990
Telephone and Verbal Reports in healthcare settings are two communication methods for conveying therapeutic instructions from healthcare providers to nurses or other healthcare staff.
Here's an overview of each type:
Telephone Orders
Here's an overview of each type:
Telephone Orders
990
Self-Presentation
288
Self-presentation is a fundamental aspect of social interaction, shaping both how others perceive individuals and how they view themselves. This dynamic process influences behaviors in various social settings, often leading people to adjust their appearance, speech, and demeanor to align with their desired identity. While self-presentation can be deliberate or unconscious, it plays a critical role in interpersonal relationships and self-perception.Forms of Self-PresentationSelf-presentation can...
288
09:49Quantitative Measurement of Relative Retinoic Acid Levels in E8.5 Embryos and Neurosphere Cultures Using the F9 RARE-Lacz Cell-based Reporter Assay
8.2K
Methods to accurately measure retinoic acid (RA) levels in small amounts of tissue do not exist. This protocol describes the easy, quantitative measurement of relative RA levels in E8.5 embryos and neurospheres using an RA reporter cell line.
8.2K
