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Related Concept Videos

Autoimmune Disorders01:29

Autoimmune Disorders

390
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...
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Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
192
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

139
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Pedigree Analysis01:35

Pedigree Analysis

84.0K
Overview
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Translation01:31

Translation

14.6K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
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Related Experiment Video

Updated: Jun 9, 2025

Chronic Salmonella Infection Induced Intestinal Fibrosis
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Familial Mediterranean Fever: An Autoinflammatory Genetic Disorder.

Rafaela Lopes Freitas1, Nídia Pereira1, Adelina Pereira1

  • 1Internal Medicine Service, Pedro Hispano Hospital, Matosinhos Local Health Unit, Matosinhos, PRT.

Cureus
|October 22, 2024
PubMed
Summary

Familial Mediterranean fever, a rare autoinflammatory syndrome, can present with diverse symptoms including fever and neurological issues. Early diagnosis and treatment with colchicine are crucial for preventing complications.

Area of Science:

  • Internal Medicine
  • Genetics
  • Rheumatology

Background:

  • A 30-year-old male presented with recurrent fever, abdominal/chest pain, arthralgias, and aseptic meningitis.
  • He developed new symptoms including tinnitus, facial paresis, and sensorineural deafness.
Keywords:
auto-imune diseasesautoinflammatory diseasesfamilial mediterranean fevermonogenic syndromesrare genetic diseases

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