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Related Concept Videos

Aneurysm II: Clinical Manifestations and Diagnostic Studies01:21

Aneurysm II: Clinical Manifestations and Diagnostic Studies

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Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
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Radiological Investigation III: Pulmonary Angiogram and PET Scan01:13

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Radiological investigations are paramount in the diagnosis and management of various pulmonary diseases. Two essential investigations are the Pulmonary Angiogram and the Positron Emission Tomography (PET) Scan.
Pulmonary Angiogram
A Pulmonary Angiogram is an invasive procedure involving injecting a contrast medium through a catheter threaded into the pulmonary artery or the right side of the heart to visualize the pulmonary vasculature. Computed Tomography (CT) scans have mainly replaced this...
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Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

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Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
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Magnetic Resonance Imaging01:24

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Magnetic resonance imaging (MRI) is a noninvasive medical imaging technique based on a phenomenon of nuclear physics discovered in the 1930s, in which matter exposed to magnetic fields and radio waves was found to emit radio signals. In 1970, a physician and researcher named Raymond Damadian noticed that malignant (cancerous) tissue gave off different signals than normal body tissue. He applied for a patent for the first MRI scanning device in clinical use by the early 1980s. The early MRI...
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Related Experiment Video

Updated: Mar 21, 2026

Hybrid PET/MRI Imaging of Alzheimer's Disease Based on 18F-AV-1451
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Danon Disease Diagnosed by Multimodal Imaging.

Xuanxuan Li1, Wenxue Yang1, Xin Zhang1

  • 1Department of Cardiology, Shijiazhuang Great Wall Hospital of Integrated Traditional Chinese and Western Medicine, Shijiazhuang, Hebei, China.

JACC. Case Reports
|March 19, 2026
PubMed
Summary

Danon disease, a genetic disorder affecting lysosome-associated membrane protein-2 (LAMP2), primarily causes cardiac issues. Early diagnosis through imaging and genetic testing is vital for affected individuals and families.

Area of Science:

  • Cardiology
  • Genetics
  • Rare Diseases

Background:

  • Danon disease is a rare X-linked dominant disorder.
  • It stems from loss-of-function mutations in the lysosome-associated membrane protein-2 (LAMP2) gene.
Keywords:
Danon diseaseLAMP2 geneWPW syndrome

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