[翻译文章]先天性和遗传性指甲疾病
L Bernal Masferrer1, M C Matei1, Y Gilaberte Calzada1
1Departamento de Dermatología, Hospital Miguel Servet, Zaragoza, España.
Actas dermo-sifiliograficas
|July 7, 2024
概括
新生儿的指甲疾病虽然复杂,但为潜在的健康状况提供了重要的线索. 早期识别生理和先天性指甲异常有助于诊断遗传疾病和系统性疾病.
科学领域:
- 儿科 儿科 儿科
- 皮肤病学 皮肤病学
- 遗传学 遗传学 是一个
背景情况:
- 新生儿的指甲异常可以独立表现出来,也可以表现为系统性疾病或基因皮肤病的指标.
- 诊断这些指甲疾病具有挑战性,但对于识别潜在的潜在健康问题至关重要.
研究的目的:
- 审查婴儿的生理指甲变化.
- 讨论相关的先天性指甲疾病和差异诊断策略.
- 突出遗传性疾病,其中指甲参与是诊断的关键.
主要方法:
- 对新生儿生理和先天性指甲疾病的文献综述.
- 对诊断方法进行分析,以区分指甲异常.
- 鉴定具有显著指甲表现的遗传性疾病.
主要成果:
- 常见的生理性指甲变化包括Beau的线条,阴症,koilonychia,先天性指甲折叠增大和阴密码症.
- 介绍了关键的先天性疾病和差异性诊断标准.
- 遗传性疾病,如指甲骨综合征,先天性帕奇尼奇症和先天性肌病,都被强调为其诊断指甲的发现.
结论:
- 熟悉新生儿指甲疾病对于早期发现系统性和遗传性疾病至关重要.
- 对指甲异常的系统检查和差异诊断可以显著改善患者的治疗结果.
相关概念视频
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01:29Non-nuclear Inheritance
Most DNA resides in the nucleus of a cell. However, some organelles in the cell cytoplasm—such as chloroplasts and mitochondria—also have their own DNA. These organelles replicate their DNA independently of the nuclear DNA of the cell in which they reside. Non-nuclear inheritance describes the inheritance of genes from structures other than the nucleus.
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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