Search research articles

关于 JoVE

概览领导团队博客 JoVE 帮助中心

作者

出版流程编辑委员会范围与政策同行评审常见问题投稿

图书馆员

用户评价订阅访问资源图书馆顾问委员会常见问题

研究

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments 存档

教育

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual 教师资源中心教师网站

使用条款与条件

相关概念视频

Myasthenia Gravis: Diagnostic Tests

Myasthenia Gravis: Diagnostic Tests

Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...

您也可能阅读

相关文章

通过共同作者、期刊和引用图与本文相关的文章。

排序

Same author

Clomiphene Citrate in off-Label Post-Cycle Therapy: Mechanisms, Efficacy and Diagnostic Challenges in Endocrine Recovery Following Anabolic Steroid Use.

Andrology·2026

Same author

Genotyping of suspected partial hydatidiform moles - our experiences and future directions.

Pathology oncology research : POR·2026

Same author

False negativity for trisomy 18 in non-invasive prenatal testing: A case report.

Case reports in women's health·2026

Same author

Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approaches.

Neurogenetics·2026

Same author

Eclampsia Incidence, Management and Outcomes Across Multi-Country Surveillance Cohorts: Individual Participant Data Meta-Analysis.

BJOG : an international journal of obstetrics and gynaecology·2026

Same author

Outlook on ACADSB variants shaping metabolomic patterns and clinical outcomes - experience from a Central European country.

Clinical biochemistry·2026

Search research articles

相关实验视频

Updated: Jun 30, 2026

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

尸检后快速形体检测全神经大脑衰竭的测试.

Lajos Gergely¹, Vanda Repiská¹, Daniel Böhmer¹

¹Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovakia.

Birth defects research

|April 18, 2024

概括

定量光聚合酶连锁反应 (QF-PCR) 与传统的型定型相比,提供了一种优越且高效的方法,用于对全脑发育病例的死后遗传评估.

关键词:

在DNA分析中,分析DNA.在QF-PCR中.堕胎堕胎堕胎堕胎堕胎堕胎堕胎堕胎没有积症.一个全透脑性脑病 (holoprosencephaly).在子宫内胎儿死亡.

更多相关视频

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

相关实验视频

Last Updated: Jun 30, 2026

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

科学领域:

医学遗传学医学遗传学
发展生物学发展生物学
生殖医学生殖医学

背景情况:

整体大脑缺陷经常导致胎儿死亡,需要进行死后遗传分析.
传统的纤维细胞核型定型由于这些情况下的培养失败而取得了有限的成功.
存档的冷样本为遗传评估提供了一个替代方案.

研究的目的:

用定量光聚合酶连锁反应 (QF-PCR) 重新评估已存档的全脑大脑病例.
评估QF-PCR用于死后遗传分析的效率和诊断产量.
在这种情况下,要比较QF-PCR与传统的型定型.

主要方法:

在七个全脑脑病例中,DNA从存档的冷胆小中分离出来.
量化光聚合酶连锁反应 (QF-PCR) 用于检测染色体13,15,16,18,21,22,X和Y的阳性积分.
结果与传统的型结局结果进行了比较.

主要成果:

在所有七个案例中,QF-PCR成功 (100%的成功率).
实现了71%的诊断产量,识别了三症13 (2例),三症 (2例) 和三症18 (1例).
在QF-PCR检测中,成功率显著更高 (100%),相比传统的型定型 (43%).

结论:

通过QF-PCR快速形体检测是一种简单可靠的方法,用于死后遗传调查.
QF-PCR具有时间和成本效益,在大多数全脑发育病例中提供足够的诊断信息.
这种技术克服了在具有挑战性的死后样本中常规型的局限性.