Jove
Visualize
联系我们
JoVE
x logofacebook logolinkedin logoyoutube logo
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 JournalMethods CollectionsJoVE Encyclopedia of Experiments存档
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教师资源中心教师网站
使用条款与条件
隐私政策
政策

相关概念视频

Meiosis I01:49

Meiosis I

193.5K
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...
193.5K
Pleiotropy01:33

Pleiotropy

40.4K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.4K

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

Endoscopic Retrieval of a Migrated Plastic Pigtail Stent in a Patient With Gastric Bypass Surgery Using Novel Endoscopic Cutting Device.

ACG case reports journal·2026
Same author

Female Sex is Associated with Adverse Cardiac Remodeling and Increased Antihypertensive Requirements After Thoracic Endovascular Aortic Repair.

Annals of vascular surgery·2026
Same author

An Endoscopic Approach to a Pouch Stricture After Failed Needle Knife Stricturotomy.

ACG case reports journal·2026
Same author

United States Experience With Terlipressin in Hepatorenal Syndrome: Response, Mortality, and Transplant Outcomes - Results From the HRS Harmony Consortium.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association·2026
Same author

Case 28-2025: A Man with Abdominal Pain, Fever, and Hypoxemia.

The New England journal of medicine·2026
Same author

A Century of Progress Toward Gut Barrier Targeting Therapies in Inflammatory Diseases.

The American journal of pathology·2026

相关实验视频

Updated: Jul 1, 2025

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

36.8K

在马赛克三胞胎症14中输卵性受精.

Jeremy Skvarce1, Arjun Chatterjee1, Giselle Velez2

  • 1Department of Internal Medicine, Cleveland Clinic Foundation, Cleveland, OH.

ACG case reports journal
|March 6, 2024
PubMed
概括

马赛克三症14是一种罕见的遗传疾病. 本案例研究突出了一个成年患者的严重局限性,呈现出肠和慢性便秘,成功地进行了保守的管理.

关键词:
三胞胎症 14 的三胞胎症.腹部疼痛 腹部疼痛便秘 便秘 便秘 便秘输入 输入 输入 输入

更多相关视频

Transuterine Fetal Tracheal Occlusion Model in Mice
06:31

Transuterine Fetal Tracheal Occlusion Model in Mice

Published on: February 5, 2021

3.1K
Mosaic Zebrafish Transgenesis for Functional Genomic Analysis of Candidate Cooperative Genes in Tumor Pathogenesis
09:45

Mosaic Zebrafish Transgenesis for Functional Genomic Analysis of Candidate Cooperative Genes in Tumor Pathogenesis

Published on: March 31, 2015

11.2K

相关实验视频

Last Updated: Jul 1, 2025

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

36.8K
Transuterine Fetal Tracheal Occlusion Model in Mice
06:31

Transuterine Fetal Tracheal Occlusion Model in Mice

Published on: February 5, 2021

3.1K
Mosaic Zebrafish Transgenesis for Functional Genomic Analysis of Candidate Cooperative Genes in Tumor Pathogenesis
09:45

Mosaic Zebrafish Transgenesis for Functional Genomic Analysis of Candidate Cooperative Genes in Tumor Pathogenesis

Published on: March 31, 2015

11.2K

科学领域:

  • 遗传学 是一个遗传学.
  • 罕见疾病 罕见疾病
  • 儿科 儿科 儿科

背景情况:

  • 马赛克三症14是一种非常罕见的染色体异常,首次在20世纪70年代被发现.
  • 记录有不到100个活生生的患有这种疾病的个体.
  • 关于长期并发症和自然史的数据有限,特别是在成年患者中.

研究的目的:

  • 描述一名成年人罕见的14型马赛克三症病例的临床表现和治疗方法.
  • 要突出诊断挑战和治疗方法对于胃肠道并发症在这个人群.

主要方法:

  • 一个成年患者的病例报告,患有 mozaic trisomy 14.
  • 临床评估,包括评估腹痛和发育不良.
  • 对胃肠道问题的诊断工作.
  • 保守的管理策略.

主要成果:

  • 患者出现了严重的功能限制,腹部疼痛和发育不良.
  • 诊断出输血阻塞和严重的慢性便秘.
  • 保守的管理导致了成功的临床结果.

结论:

  • 这一案例强调了在成年人中考虑胃肠道并发症的重要性.
  • 在这种罕见的遗传性疾病中,保守的治疗可以有效治疗诸如肠和慢性便秘等疾病.
  • 需要进一步的研究,以了解患有14型马赛克三症的成年人的长期健康发展轨迹.