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Related Concept Videos

Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

1.0K
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

266
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...
266
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...
923
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

1.3K
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...
1.3K
Hypersensitivity Reactions: Delayed Hypersensitivity Reactions01:29

Hypersensitivity Reactions: Delayed Hypersensitivity Reactions

353
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...
353
Skin Diseases and Disorders01:23

Skin Diseases and Disorders

5.1K
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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Related Experiment Video

Updated: Apr 28, 2026

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
10:27

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].

J Haroche1, F Cohen-Aubart1, L Arnaud1

  • 1Service de médecine interne 2, Centre national de référence maladies systémiques rares, groupe hospitalier Pitié-Salpêtrière, AP-HP, UPMC, université Paris-6, 47-83, boulevard de l'Hôpital, 75651 Paris, France.

La Revue De Medecine Interne
|June 1, 2014
PubMed
Summary
This summary is machine-generated.

Erdheim-Chester disease, a rare condition, is increasingly diagnosed due to better awareness. BRAF inhibition shows dramatic efficacy in severe cases with BRAF(V600E) mutations.

Keywords:
BRAFErdheim-Chester diseaseHistiocytoseHistiocytosisInterferon-αInterféron-αMaladie d’Erdheim-Chester

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Area of Science:

  • Rare diseases
  • Oncology
  • Pathology

Context:

  • Erdheim-Chester disease (ECD) is a rare, orphan histiocytic disorder.
  • Recent years have seen a substantial increase in reported ECD cases (over 300 in the past decade).
  • Improved awareness among pathologists, radiologists, and clinicians contributes to increased diagnoses.

Purpose:

  • To highlight recent advancements in understanding and treating Erdheim-Chester disease.
  • To underscore the significance of emerging therapeutic strategies.
  • To emphasize the role of genetic mutations in disease pathogenesis.

Summary:

  • Recent research indicates increased diagnosis of Erdheim-Chester disease, driven by enhanced medical awareness.
  • Evidence supports the efficacy of interferon-alfa and highlights a pro-inflammatory cytokine signature.
  • BRAF inhibition has demonstrated dramatic efficacy in severe ECD cases associated with BRAF(V600E) mutations, found in over half of tested patients.

Impact:

  • Elucidating ECD pathogenesis is crucial for developing more targeted and effective therapies.
  • Advances in understanding BRAF mutations open new avenues for personalized treatment.
  • Increased diagnostic rates and therapeutic options offer improved outcomes for ECD patients.