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15 Cards in this Set

  • Front
  • Back
What type of genetic disorder is achondroplasia? what is pathogenesis?
1) Autosomal dominant
2) Mutation in fibroblast growth factor receptor gene
a. Gene mutations increase with paternal age
3. Impaired proliferation of cartilage at the growth plate
Clinically how does achondroplasia present? How are GH and IGF-1
1. Normal-sized head and vertebral column
2. Shortened arms and legs
3. Normal growth hormone and insulin growth factor-1 levels
"marble bone" disease is also known as? What are genetics?
1) Osteopetrosis
2) Autosomal recessive (severe)
a. Autosomal dominant (less severe)
Pathologically what is occurring in osteopetrosis?
1. Deficiency osteoclasts
2. Normal balance of osteoblasts making bone and osteoclasts breaking down bone is disrupted favoring increased bone formation.
3. Overgrowth and sclerosis of cortical bone ("too much bone")
Clinically how does osteopetrosis present?
1. Pathologic fractures
2. Anemia
a. Replacement of marrow cavity
3. Cranial nerve compression
a. Visual and hearing loss
How does osteomyelitis occur? where is the most common site?
1) Most commonly due to sepsis with subsequent spread to bone
2) Metaphysis is the most common site.
a. Favors the tibia and fibula in children
What is the most common pathogen causing osteomyelitis?
1) S aureus (most common)
2) Streptococcus pyogenes
3) Haemophilus influenzae
osteomyelitis in sickle cell disease is caused by?
Salmonella paratyphi
Tuberculous osteomyelitis commonly occurs where? How does it get there?
1) commonly involves vertebral column (Pott's disease)
2) Hematogenous spread from a primary lung focus
Cause of osteomyelitis Most often due to puncture of foot through rubber footwear?
Pseudomonas aeruginosa osteomyelitis
Pathologically what is occurring in osteomyelitis? What is devitalized bone and reactive bone called?
1) Neutrophils enzymatically destroy bone
2) Devitalized bone is called sequestra.
3) Chronic disease produces reactive bone formation in periosteum.
a. Called involucrum
4) Draining sinus tracts to the skin surface often occur
What is the risk with a sinus tract opening onto the skin from osteomyelitis?
Danger of squamous cell carcinoma developing at orifice of sinus tract
How does osteomyelitis typically present?
Fever, bone pain
How is osteomyelitis caused by staph and salmonella treated?
1. Surgical débridement
2. Staphylococcus aureus: vancomycin + ceftazidime
3. Salmonella paratyphi (sickle cell): ciprofloxacin
What is the most common metabolic abnormality of bone?
osteoporosis