罕见疾病:儿童牙科的挑战
1Director of the Postgraduate School of Paediatric Dentistry, University of Pisa.
European journal of paediatric dentistry
|August 30, 2024
概括
儿科牙医在识别罕见的遗传性疾病中发挥着至关重要的作用,如X链接的低血症 (XLH),低血症 (HPP) 和骨质变异不完美症 (OI) 通过他们的牙表现,使早期诊断和多学科护理成为可能.
科学领域:
- 儿科牙科 儿科牙科
- 医学遗传学 医学遗传学
- 罕见疾病 罕见疾病
背景情况:
- 由于复杂的表现和需要专业护理,罕见疾病在儿科牙科中带来了重大挑战.
- 诸如X链接的低酸性精神病 (XLH),低酸性精神病 (HPP) 和骨质生成不完善 (OI) 等疾病突出显示了全身和口腔健康的交叉关系.
- 牙医通常是第一个通过口腔症状识别遗传疾病的人,这有助于早期转诊诊断.
研究的目的:
- 强调儿科牙医在早期识别和治疗罕见遗传疾病方面的关键作用.
- 突出与XLH,HPP和OI相关的特定牙科表现.
- 强调涉及牙医,遗传学家和其他专家的多学科方法的重要性,以获得最佳的患者结果.
主要方法:
- 对XLH,HPP和OI的临床和放射特征的审查.
- 对这些疾病的遗传基础和病原体机制的分析.
- 对牙科专业人员的诊断和治疗影响的讨论.
主要成果:
- XLH呈现出牙下矿化,扩大的脉腔,短根和牛牙.
- HPP的特点是牙早期损失,移动性,大脉腔和减少牙质厚度.
- OI可能涉及不完美的牙发育,导致变色和削弱的牙.
结论:
- 及时识别牙表现,可以早期诊断罕见遗传疾病,可能在系统性并发症出现之前.
- 儿科牙医在识别这些疾病和启动转诊进行遗传评估和多学科管理方面发挥着关键作用.
- 牙科专业人员的作用扩展到量身定制的治疗,预防性护理和患者教育,以促进整体福祉.
相关概念视频
01:15Teeth
361
The formation of teeth, also known as odontogenesis, is a complex process that begins in utero, around the sixth week of embryonic development. There are three stages to this process: the bud stage, the cap stage, and the bell stage.
In the bud stage, the tooth germ (an aggregation of cells) starts to form in the developing jawbone. During the cap stage, the tooth germ differentiates into enamel organ, dental papilla, and dental sac, which will later develop into the tooth's enamel, dentin...
In the bud stage, the tooth germ (an aggregation of cells) starts to form in the developing jawbone. During the cap stage, the tooth germ differentiates into enamel organ, dental papilla, and dental sac, which will later develop into the tooth's enamel, dentin...
361
01:17Ethical Dilemmas I
863
Ethical dilemmas in nursing are of utmost importance, as they often arise from the tension between adhering to core ethical principles and the practical realities of healthcare delivery. These dilemmas require nurses to navigate complex situations where competing ethical considerations pull them in different directions.
Let us explore some examples to understand the potentially complex moral decisions nurses face.
Take the case of caring for minors, particularly in areas related to reproductive...
Let us explore some examples to understand the potentially complex moral decisions nurses face.
Take the case of caring for minors, particularly in areas related to reproductive...
863
01:21Tooth Anatomy
400
The human tooth enables us to eat a variety of foods, speak clearly, and even aid in shaping our faces. Teeth are composed of various elements that work together. Here's a detailed look at the anatomy of a human tooth.
The Crown, Neck, and Root
The visible part of the tooth is referred to as the crown. It's covered by enamel, the hardest substance in the human body. The crown is uniquely shaped for each type of tooth, allowing for different functions such as cutting, tearing, or...
The Crown, Neck, and Root
The visible part of the tooth is referred to as the crown. It's covered by enamel, the hardest substance in the human body. The crown is uniquely shaped for each type of tooth, allowing for different functions such as cutting, tearing, or...
400
01:21Barriers to Effective Communication II
3.6K
The barriers to effective communication also include cultural barriers, semantic barriers, gender barriers, and time constraints.
Cultural barriers:
Differences in values, beliefs, religion, knowledge, and tradition can significantly impact communication. Awareness of nonverbal cues is critical, especially when conversing with a patient from a different culture. What appears appropriate in one culture may be inappropriate in another.
Semantic barriers:
As a result of their tendency to use...
Cultural barriers:
Differences in values, beliefs, religion, knowledge, and tradition can significantly impact communication. Awareness of nonverbal cues is critical, especially when conversing with a patient from a different culture. What appears appropriate in one culture may be inappropriate in another.
Semantic barriers:
As a result of their tendency to use...
3.6K
01:26Assessment of the Mouth
151
A thorough mouth assessment, including inspection and palpation of the lips, gums, tongue, tonsils, uvula, and pharynx, is crucial in detecting potential health issues. Diseases ranging from oral cancer to systemic conditions like diabetes could be identified early through careful oral examination. This article provides a detailed guide on conducting a comprehensive mouth assessment.
Mouth Inspection
The inspection begins with visually examining the mouth for symmetry, color, and size.
Mouth Inspection
The inspection begins with visually examining the mouth for symmetry, color, and size.
151
01:05Breathing
58.9K
The process of breathing, inhaling and exhaling, involves the coordinated movement of the chest wall, the lungs, and the muscles that move them. Two muscle groups with important roles in breathing are the diaphragm, located directly below the lungs, and the intercostal muscles, which lie between the ribs. When the diaphragm contracts, it moves downward, increasing the volume of the thoracic cavity and creating more room for the lungs to expand. When the intercostal muscles contract, the ribs...
58.9K