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Pathoma > 18.1 - Skeletal system > Flashcards

18.1 - Skeletal system Flashcards

1
Q

achondroplasia is due to impaired cartilage proliferation in the _______________

A

growth plate

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2
Q

achondroplasia is due to a mutation of what gene? what type of mutation is it?

A
  • FGFR3

- activating mutation

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3
Q

what is the inheritance of achondroplasia?

A

AD

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4
Q

is achondroplasia a defect in endochondral or intramembranous bone formation?

A

endochondral

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5
Q

what is the inheritance of osteogenesis imperfecta?

A

AD

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6
Q

osteogenesis imperfecta is a defect in type ____ collagen synthesis

A

1

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7
Q

why are blue sclerae seen in osteogenesis imperfecta?

A

thinning of scleral collagen reveals underlying choroidal veins

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8
Q

osteopetrosis is due to poor function of what cell type?

A

osteoclast

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9
Q

what is the most common gene mutation variant leading to osteopetrosis? what is the result?

A

carbonic anhydrase II - loss of acidic microenvironment required for bone resorption

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10
Q

what are the hematologic manifestations of osteopetrosis? what is the mechanism?

A
  • anemia
  • thrombocytopenia
  • leukopenia
  • extramedullary hematopoiesis
  • due to bony replacement of marrow (myelophthisic process)
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11
Q

what is the treatment for osteopetrosis?

A

bone marrow transplant

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12
Q

rickets / osteomalacia is due to what process?

A

defective mineralization of osteoid

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13
Q
  • pigeon breast deformity
  • frontal bossing
  • rachitic rosary
  • bowing of the legs
A

rickets

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14
Q

what are the serum levels of

  • calcium
  • phosphate
  • PTH
  • alk phos

in osteomalacia?

A
  • low calcium
  • low phosphate
  • high PTH
  • high alk phos
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15
Q

when osteoblasts are activated, what does that do to alk phos levels?

A

increase

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16
Q

osteoporosis is a reduction in bone mass of what type of bone?

A

trabecular

17
Q

what are the serum levels of

  • calcium
  • phosphate
  • PTH
  • alk phos

in osteoporosis?

A
  • NORMAL calcium
  • NORMAL phospate
  • NORMAL PTH
  • NORMAL alk phos
18
Q

what are the treatments for osteoporosis?

A
  • exercise, vitamin D, calcium

- bisphosphonates: induce apoptosis of osteoclasts

19
Q

what is the pathophysiology of paget disease of bone?

A
  • imbalance between osteoclast and osteoblast function that is divided into three stages:
  • osteoclastic: heavy resorption
  • mixed osteoblastic-osteoclastic: osteoclast activity is eventually extinguished
  • osteoblastic: work overtime in a haphazard way in an attempt to repair
20
Q

biopsy of paget disease of bone reveals what morphology?

A

mosaic pattern of lamellar bone

21
Q

what are the lab findings in paget disease of bone?

A

isolated elevated alk phos

22
Q

what are the treatments for paget disease of bone?

A
  • calcitonin

- bisphosphonates

23
Q

what are the complications of paget disease of bone?

A
  • high output cardiac failure (due to AV shunts in bone)

- osteosarcoma

24
Q

in children, osteomyelitis usually seeds what part of the bone?

A

metaphysis

25
Q

in adults, osteomyelitis usually seeds what part of the bone?

A

epiphysis

26
Q

what is the most common organism responsible for osteomyelitis in sexually active young adults?

A

n. gonorrhoeae

27
Q

what is the most common organism responsible for osteomyelitis in sickle cell patients?

A

salmonella

28
Q

what is the most common organism responsible for osteomyelitis in diabetics and IV drug users?

A

pseudomonas

29
Q

what is the most common organism responsible for osteomyelitis in cat / dog bites?

A

pasteurella

30
Q

what is the most common organism responsible for osteomyelitis in vertebrae?

A

m. TB

31
Q

what is the most common organism responsible for osteomyelitis overall?

A

s. aureus

32
Q

in osteomyelitis, the lytic focus is called the ___________ and the surrounding sclerosis is called the ____________

A
  • sequestrum

- involucrum

Pathoma (120 decks)

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