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

Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

520
Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
520
Coronary Artery Disease III: Clinical Manifestations01:30

Coronary Artery Disease III: Clinical Manifestations

299
Coronary Artery Disease (CAD) is a primary health risk worldwide, leading to significant morbidity and mortality. The condition arises from the buildup of atherosclerotic plaques within the coronary arteries, resulting in diminished blood supply to the heart muscle.The clinical manifestations of CAD vary widely, from asymptomatic stages to severe, life-threatening conditions. Understanding these manifestations is crucial for early diagnosis and effective management.Angina Pectoris: The Warning...
299
Endocarditis II: Clinical Features of Infective Endocarditis01:25

Endocarditis II: Clinical Features of Infective Endocarditis

364
Endocarditis can present various clinical features depending on the causative organism and the patient's underlying health conditions. Initially, the clinical features of infective endocarditis develop gradually, presenting with nonspecific symptoms that can be easily mistaken for other illnesses.General SymptomsEarly symptoms of infective endocarditis are fever, chills, weakness, malaise, fatigue, and weight loss. These symptoms reflect the systemic nature of the infection and the body's...
364
Heart Failure III: Clinical Manifestations01:26

Heart Failure III: Clinical Manifestations

436
Heart failure (HF) manifests primarily as dyspnea, fatigue, and fluid retention, resulting in peripheral and pulmonary edema. Symptoms may vary depending on which ventricle is more affected, left or right.Left-Sided Heart FailureAlso known as left ventricular failure, this condition results from the left ventricle's inability to fill or eject sufficient blood into the systemic circulation. It leads to pulmonary congestion, which occurs when the left ventricle fails to eject blood effectively...
436
Gastroesophageal Reflux Disease II: Clinical Features and Management01:29

Gastroesophageal Reflux Disease II: Clinical Features and Management

652
Gastroesophageal reflux disease, or GERD, is a persistent medical condition that affects many individuals worldwide. Its clinical manifestations can vary greatly, making diagnosis and management challenging for healthcare professionals. The following is a comprehensive overview of the clinical manifestations, assessment, and management strategies for GERD.
Clinical Manifestations
GERD presents itself in a multitude of ways, with symptoms varying from person to person. The hallmark symptoms are...
652
Hypertension III: Clinical Manifestations and Diagnostic Studies01:30

Hypertension III: Clinical Manifestations and Diagnostic Studies

437
Hypertension is asymptomatic and also referred to as the "silent killer" until it progresses to a severe stage or causes target organ disease. Patients may experience symptoms stemming from the strain on blood vessels and tissues in various organs or the heart's increased workload.Physical exams might show no abnormalities other than high blood pressure. Signs of vascular damage, when present, correspond to the organs supplied by the affected vessels, leading to target organ damage. For...
437

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

Considerations for the selection and phenotyping of mouse models for the study of Alzheimer's disease.

STAR protocols·2026
Same author

Mechanisms of increased Alzheimer's disease pathology with R47H and R62H TREM2 variants.

Acta neuropathologica·2026
Same author

Promoting Research Excellence in Down Syndrome: Proceedings of the 5th International Conference of the Trisomy 21 Research Society.

Neuromolecular medicine·2026
Same author

Identification of genetic modifiers of autosomal dominant Alzheimer's disease: a genome-wide association study.

The Lancet. Neurology·2026
Same author

The Dementias Platform UK PET/MR harmonisation and test-retest study: assessment of PET repeatability and reproducibility across the national network.

European journal of nuclear medicine and molecular imaging·2026
Same author

Use of anti-amyloid-β monoclonal antibodies in persons with Down syndrome Alzheimer's disease.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same journal

Patient-derived forebrain cortical organoids reveal biphasic tau-MAP6-microtubule axis dysfunction in tauopathy.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same journal

Genetic architecture of the limbic white matter microstructure in aging and Alzheimer's Disease.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same journal

Greater choroid plexus volume is linked to poor sleep, neurodegeneration, and cognitive deficits in older adults: Evidence from the IGNITE Study.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same journal

Plasma-based neurobiological protein biomarkers as predictors of dementia progression: Insights from longitudinal aging study in India - Diagnostic assessment of dementia.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same journal

Neuropathology-specific language features in primary progressive aphasia.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
Same journal

Dementia blood biomarkers in the context of post-stroke cognitive outcomes: Systematic review and evidence synthesis.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026
查看所有相关文章

相关实验视频

Updated: Jan 7, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

16.4K

临床表现 临床表现

Natalie S Ryan1,2, Clíona Farrell2,3, Nanet Willumsen3

  • 1Dementia Research Centre, UCL Queen Square Institute of Neurology, London, United Kingdom.

Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 24, 2025
PubMed
概括
此摘要是机器生成的。

自体主导性阿尔茨海默病 (ADAD) 根据特定的基因突变显示出不同的临床和脑病理. 了解这些差异,包括粉样β模式,可以帮助个性化ADAD治疗.

更多相关视频

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
04:44

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

20.7K
Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling
09:08

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Published on: October 14, 2021

6.1K

相关实验视频

Last Updated: Jan 7, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

16.4K
Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
04:44

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease

Published on: June 16, 2020

20.7K
Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling
09:08

Isolating Human Peripheral Blood Mononuclear Cells and CD4+ T cells from Sézary Syndrome Patients for Transcriptomic Profiling

Published on: October 14, 2021

6.1K

科学领域:

  • 神经科学是一个神经科学.
  • 遗传学 是一个遗传学.
  • 病理学 病理学 病理学

背景情况:

  • 自体主导性阿尔茨海默氏症 (ADAD) 与零星性阿尔茨海默氏症有相似之处,但在临床表现和神经病理学上表现异质.
  • 在粉样蛋白β (Aβ) 斑块和脑粉样蛋白血管病变 (CAA) 沉积中存在变异性,影响疾病进展.
  • 研究ADAD异质性可以揭示潜在的机制,并为治疗策略提供信息.

研究的目的:

  • 探索ADAD中遗传突变 (APP,PSEN1) 和临床/神经病理异质性之间的关系.
  • 分析特定突变对Aβ沉积模式 (包括Aβ43) 和CAA严重性的影响.
  • 为开发ADAD个性化治疗方法提供见解.

主要方法:

  • 分析了来自ADAD突变的250多名患者的临床表型数据.
  • 来自50名个体的死后脑组织 (37个PSEN1,13个APP突变) 被检查了Aβ病理和CAA.
  • 进行了用泛粉样β抗体的免疫组织化学和对Aβ40,Aβ42和Aβ43结合模式的分析.

主要成果:

  • 发病时的年龄强烈依赖于突变,而存活率的影响较小.
  • 非典型的临床表现 (非记忆) 和特征在PSEN1突变中更为常见,特别是在codon 200后.
  • CAA的频率和严重程度有显著的变化;在PSEN1中观察到Aβ43沉积,但在APP突变病例中没有.

结论:

  • 在ADAD中,表型异质性受到致病基因和特定突变的显著影响.
  • 突变特异的Aβ沉积模式与CAA变异性和临床表现相关.
  • 了解这些基因型-表型-神经病理学联系对于个性化的ADAD疗法至关重要.