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Related Concept Videos

Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

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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...
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Hypersensitivity Reactions: Immune-Complex Reactions01:19

Hypersensitivity Reactions: Immune-Complex Reactions

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Type III hypersensitivity reactions occur when antigen–antibody complexes form and activate the complement system. Normally, these complexes help the clearance of antigens by phagocytes and red blood cells. However, when large numbers of immune complexes are present, they can deposit in tissues—particularly in the walls of blood vessels—leading to inflammation and tissue injury. These deposits trigger complement activation and neutrophil recruitment, resulting in serum...
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Endocarditis II: Clinical Features of Infective Endocarditis01:25

Endocarditis II: Clinical Features of Infective Endocarditis

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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...
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Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

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The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
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Hypersensitivity Reactions: Delayed Hypersensitivity Reactions01:29

Hypersensitivity Reactions: Delayed Hypersensitivity Reactions

346
Delayed-Type Hypersensitivity (DTH), or Type IV hypersensitivity, is a cell-mediated immune response. It occurs when T cells, rather than antibodies, mediate a reaction to specific antigens. It is characterized by a delayed onset (1-2 days) and involves the recruitment of macrophages to the inflammation site.The initiation of a DTH response begins with the sensitization of T cells. During this phase, which lasts at least 1-2 weeks, antigen-specific T cells are activated, clonally expanded, and...
346
Skin Diseases and Disorders01:23

Skin Diseases and Disorders

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Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
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Updated: Apr 24, 2026

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
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[Erdheim-Chester disease].

Roei D Mazor, Yehuda Shoenfeld

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    |September 6, 2014
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    Summary
    This summary is machine-generated.

    Erdheim-Chester disease is a rare histiocytic disorder causing organ damage. Targeting the BRAF V600E mutation with vemurafenib shows promising clinical responses in affected patients.

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    Area of Science:

    • Rare diseases
    • Histiocytosis
    • Oncology

    Background:

    • Erdheim-Chester disease (ECD) is a rare orphan condition characterized by histiocyte proliferation and infiltration, leading to end-organ damage.
    • Clinical presentation often includes diabetes insipidus, bone pain (femurs, tibiae), or cerebellar dysfunction, necessitating high clinical suspicion.
    • Symmetric bone scintigraphy findings are suggestive of ECD.

    Discussion:

    • Interferon-alpha is a traditional first-line treatment for ECD.
    • Emerging data highlights the Ras/Raf/MEK/ERK pathway's role in ECD pathogenesis.
    • Targeting the BRAF V600E mutation with vemurafenib has demonstrated significant clinical responses.

    Key Insights:

    • ECD involves abnormal proliferation and infiltration of CD68(+), CD1a(-) histiocytes.
    • Longstanding diabetes insipidus combined with bone pain or cerebellar issues are key diagnostic indicators.
    • 99mTc bone scintigraphy showing symmetric uptake in femurs and tibiae strongly suggests ECD.

    Outlook:

    • Further research into the Ras/Raf/MEK/ERK pathway in ECD is warranted.
    • Vemurafenib offers a targeted therapy option for ECD patients with BRAF V600E mutations.
    • Investigating novel therapeutic strategies based on molecular pathways is crucial for improving ECD outcomes.