Genetic and Pediatric Diseases Chapter 6 Diseases Caused
- Slides: 37
Genetic and Pediatric Diseases Chapter 6
Diseases Caused by Mutations in Genes Encoding Structural Proteins Marfan Syndrome Ehlers-Danlos Syndromes
Marfan Syndrome: patient’s long fingers will show significant overlap
Normally, your thumb won’t stick out the end of your fist – but check out how far patient’s sticks out
Ehlers-Danlos Syndromes
Ehlers-Danlos Syndromes
Ehlers-Danlos Syndromes
Diseases Caused by Mutations in Genes Encoding Receptor Proteins or Channels Familial Hypercholesterolemia Cystic Fibrosis
Familial Hypercholesterolemia • Skin xanthomas • premature atherosclerosis
Skin xanthoma
atherosclerosis
Cystic Fibrosis • Mild to moderate changes of cystic fibrosis in the pancreas. • The ducts are dilated and plugged with eosinophilic mucin, and the parenchymal glands are atrophic and replaced by fibrous tissue
Lungs of a patient who died of cystic fibrosis • Extensive mucous plugging and dilation of the tracheobronchial tree are apparent. • The pulmonary parenchyma is consolidated by a combination of both secretions and pneumonia • the greenish discoloration is the product of Pseudomonas infections.
Pancreas in cystic fibrosis, severe degree: Interstitial fibrosis sparing islets
Lysosomal Storage Diseases Tay-Sachs Disease Niemann-Pick Disease Gaucher Disease
Tay-Sachs disease a large neuron has obvious lipid vacuolation
Tay-Sachs disease electron microscope A portion of a neuron shows prominent lysosomes with whorled configurations
Niemann-Pick disease in liver.
• The hepatocytes and Kupffer cells have a foamy, vacuolated appearance resulting from deposition of lipids.
Gaucher disease involving the bone marrow: . abundant lipid-laden granular cytoplasm
Electron micrograph of Gaucher cells with elongated distended lysosomes.
- Section 19-3 diseases caused by bacteria and viruses
- Diseases caused by bacteria
- Diseases caused by dust
- What causes genetic diseases
- Founder's effect
- Genetic programming vs genetic algorithm
- Genetic programming vs genetic algorithm
- Gene flow vs genetic drift
- Gene flow vs genetic drift
- Chapter 8 skin disorders and diseases
- Chapter 6 musculoskeletal system diseases and disorders
- Chapter 24 sexually transmitted diseases and hiv/aids
- Chapter 22 genetics and genetically linked diseases
- Chapter 21 mental health diseases and disorders
- Chapter 17 reproductive system diseases and disorders
- Chapter 15 nervous system diseases and disorders
- Chapter 8 skin disorders and diseases
- What conditions do fungal organisms favor for growth
- Onychomycosis milady
- Chapter 8 cardiovascular system
- Milady chapter 8 skin disorders and diseases
- "kawasaki disease"
- Chapter 57 pediatric dentistry recall
- Chapter 24 lesson 1 sexually transmitted diseases
- Chapter 32 childhood communicable diseases bioterrorism
- Sarophyte
- Chapter 23 lesson 1 understanding communicable diseases
- Chapter 12 section 1 dna the genetic material
- Chorionic villus
- Chapter 12 section 1: dna: the genetic material
- Chapter 12 section 1 dna the genetic material
- Molecular genetics chapter 12
- On and off
- Chapter 12 section 1 dna the genetic material
- What are tides and how are they caused
- During which phase of the moon do neap tides occur?
- What sight made brian scream in horror
- Sea and land breezes are caused because ____.