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

Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

3
Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
3
Primary Healthcare Services01:30

Primary Healthcare Services

1.3K
Primary care promotes wellness and prevents disease. This care includes health promotion, education, protection (such as immunizations), early disease screening, and environmental considerations. Settings providing this type of healthcare include physician offices, public health clinics, school nursing, and community health nursing.
In 1978, international leaders convened in Alma-Ata, Kazakhstan, for what would be a pivotal event in global health. The Alma-Ata Declaration was the first to call...
1.3K
GPCR Desensitization01:12

GPCR Desensitization

5.8K
G protein-coupled receptor (GPCR) signaling plays a crucial role in cell functioning. GPCR desensitization is an equally essential process. It allows cells to respond to changing environments and regain sensitivity to new stimuli while preventing unnecessary stimulation when no longer needed. Prolonged exposure to stimuli leads to GPCR desensitization. It involves blocking the receptors from binding and activating additional G proteins. This inhibits activation of downstream effectors, thereby...
5.8K
Pulmonary Hypertension: Classification and Pathogenesis01:30

Pulmonary Hypertension: Classification and Pathogenesis

150
Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
150
COPD: Pathogenesis and Clinical Features01:20

COPD: Pathogenesis and Clinical Features

235
Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
235
Pathophysiology of Heart Failure01:17

Pathophysiology of Heart Failure

1.5K
Heart failure (HF) is a progressive syndrome involving ventricles that leads to inadequate cardiac output. It can be classified based on location and output or ejection fraction. Ejection fraction (EF) is an essential measurement in the diagnosis and surveillance of HF. Reduced EF corresponds to systolic heart failure (HFrEF). However, HF with preserved ejection fraction (HFpEF) is becoming increasingly prevalent. Also known as diastolic HF, this form of HF is related to aging. The...
1.5K

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

Clinical efficacy and safety of pembrolizumab and nivolumab in frontline treatment for classical Hodgkin lymphoma: systematic review and meta-analysis of clinical trials.

Frontiers in oncology·2026
Same author

Variant Curation of the Largest Compendium of <i>FOXL2</i> Coding and Noncoding Sequence and Structural Variants in BPES.

Human mutation·2026
Same author

Real-world effectiveness and antibody responses of BNT162b2 vaccination in long-term care residents: A retrospective case-control study.

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases·2026
Same author

Evolutionary trajectories, early diversification, and species-specific amplification of the metazoan inhibitor of apoptosis (IAP) repertoire.

Molecular biology and evolution·2026
Same author

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.

Brain sciences·2026
Same author

A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study.

Clinical epigenetics·2025

相关实验视频

Updated: Jun 8, 2025

A Novel Method: Super-selective Adrenal Venous Sampling
06:08

A Novel Method: Super-selective Adrenal Venous Sampling

Published on: September 15, 2017

23.3K

帕克综合征:一个概述

Lusine Harutyunyan1,2,3, Patrick Callaerts1, Sascha Vermeer4

  • 1Laboratory for Behavioral and Developmental Genetics, Department of Human Genetics, KU Leuven, Louvain, Belgium.

Orphanet journal of rare diseases
|November 5, 2024
PubMed
概括
此摘要是机器生成的。

多发性神经病,听力损失,小脑动力不良,视网膜色素炎和白内障 (PHARC) 是一种罕见的遗传疾病,症状各不相同. 早期诊断和多学科护理对于管理PHARC患者至关重要.

关键词:
白内障是什么?白内障是什么?白内障是什么?大脑小脑动症 脑小脑动症听力损失 听力损失在法尔克 (PHARC) 联盟中,多性神经病变 (Polyneuropathy) 是一种多性神经病变.视网膜炎的颜色素系统性审查 系统性审查

更多相关视频

Author Spotlight: Developing Parmodulins to Target Protease-Activated Receptors for Inflammation Control
07:13

Author Spotlight: Developing Parmodulins to Target Protease-Activated Receptors for Inflammation Control

Published on: May 24, 2024

420
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.6K

相关实验视频

Last Updated: Jun 8, 2025

A Novel Method: Super-selective Adrenal Venous Sampling
06:08

A Novel Method: Super-selective Adrenal Venous Sampling

Published on: September 15, 2017

23.3K
Author Spotlight: Developing Parmodulins to Target Protease-Activated Receptors for Inflammation Control
07:13

Author Spotlight: Developing Parmodulins to Target Protease-Activated Receptors for Inflammation Control

Published on: May 24, 2024

420
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.6K

科学领域:

  • 遗传学和罕见疾病.
  • 神经退行性疾病 神经退行性疾病
  • 眼科和听力学 眼科和听力学

背景情况:

  • PHARC是一种罕见的,渐进的,自体相逆性神经退行性疾病.
  • 它是由ABHD12基因突变引起的,呈现异质,使诊断复杂化.
  • 病理生理学和生物化学仍然不完全理解.

研究的目的:

  • 提供PHARC患者及其突变的临床概述.
  • 概述最近关于PHARC病理生理学的研究.
  • 提高人们对PHARC异质性的认识,改善诊断.

主要方法:

  • 关于PHARC患者和ABHD12突变的文献综述.
  • 来自37个家庭的58名患者的临床数据汇编.
  • 分析症状变异性,症状发病年龄和诊断挑战.

主要成果:

  • 脱线性多神经病 (91%),听力损失 (86%),小脑动力衰竭 (74%),视网膜色素炎 (82%) 和白内障 (86%) 是常见的.
  • 观察到症状发作和严重程度的显著变化.
  • 由于罕见性和异质呈现,诊断往往会延迟.

结论:

  • 建议将ABHD12添加到相关症状的基因组.
  • 强调全面的临床,神经学,眼科和听力学评估.
  • 倡导为PHARC患者提供多学科护理.