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Related Concept Videos

Autoimmune Disorders01:29

Autoimmune Disorders

Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune system...
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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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Chronic Bowel Disorders: Introduction

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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
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Ankylosing spondylitis and systemic sclerosis: a rare combination.

Dieu-Donné Ouédraogo1, Elisabeth Palazzo, Mireille Nlomé-Nzé

  • 1Service de Rhumatologie, CHU Bichat-Claude Bernard, 46 rue Henri Huchard, 75877 Paris Cedex 18, France.

Joint Bone Spine
|April 18, 2009
PubMed
Summary

This case report highlights the coexistence of diffuse systemic sclerosis and ankylosing spondylitis in a single patient. Genetic predisposition, indicated by specific HLA alleles, may increase the risk of developing both inflammatory joint diseases simultaneously.

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Area of Science:

  • Rheumatology
  • Immunogenetics

Background:

  • Ankylosing spondylitis (AS) is a chronic inflammatory arthritis primarily affecting the axial skeleton.
  • Systemic sclerosis (SSc) is a multisystem autoimmune disease characterized by fibrosis of the skin and internal organs.
  • Co-occurrence of distinct autoimmune or inflammatory conditions can present diagnostic and therapeutic challenges.

Observation:

  • A 41-year-old Caucasian male with a 15-year history of AS and prior myocarditis developed diffuse SSc (skin, joints, esophagus, Raynaud's phenomenon).
  • The patient's HLA type revealed alleles associated with AS (B27) and SSc (B35, DRB1 11, DQB1 03).

Findings:

  • This case demonstrates the simultaneous presence of two distinct inflammatory joint diseases, AS and SSc, in one individual.
  • The identified HLA alleles suggest a potential genetic predisposition contributing to the development of both conditions.

Implications:

  • Confirms that patients can have coexisting inflammatory joint diseases, particularly those with genetic susceptibility to both.
  • Highlights the importance of considering multiple autoimmune conditions in patients with complex inflammatory presentations.
  • Suggests a potential role for immunogenetic profiling in understanding the pathogenesis of co-occurring rheumatic diseases.