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All the things > 18.1 Skeletal System > Flashcards

18.1 Skeletal System Flashcards

1
Q

What, generally, is achondroplasia?

A

Impaired cartilage proliferation in the growth plate

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2
Q

What is the genetic cause of achondroplasia?

A

Activating mutation in FGFR3, causing inhibition of cartilage growth

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3
Q

What is the inheritance pattern of achondroplasia?

A

Most are sporadic, but if inherited, AD

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4
Q

What are the morphological characteristics of achondroplasia? What causes this phenotype?

A

Short extremities with a normal sized head and chest

  • Long bones undergo endochondral bone formation
  • Truncal bones undergo intramembranous bone formation
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5
Q

What happens to mental function, lifespan, and fertility with achondroplasia?

A

Not affected

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6
Q

What is the intramembranous form of bone creation? What type of bones undergo this?

A

Bone is produced from a CT matrix

Bones of the skull, chest

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7
Q

What is the endochondral form of bone creation? What type of bones undergo this?

A

Cartilage produced, dies, and calcifies

Long bones

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8
Q

What is the defect in osteogenesis imperfecta?

A

AD defect in collagen type I synthesis

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9
Q

What are the clinical features of osteogenesis imperfecta? (3)

A
  • Multiple fractures
  • Blue sclera
  • Hearing loss
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10
Q

Why are the sclera blue with osteogenesis imperfecta?

A

Exposure of the choroidal veins

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11
Q

What is osteopetrosis?

A

Inherited defect of bone resorption, resulting in abnormally thick, heavy bone that fractures easily

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12
Q

What is the pathogenesis of osteopetrosis?

A

Carbonic anhydrase II mutation results in lack of acidic environment required for resorption of bone

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13
Q

What is rxn that carbonic anhydrase catalyzes?

A

H2O + CO2 = H2CO3

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14
Q

What are the radiological characteristics of osteopetrosis?

A

Abnormally white and dense bones

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15
Q

What is Winter’s formula? (from sitting in lecture) What is it for?

A

pCO2 = 1.5(HCO3)+8 +/- 2

Measures compensation

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16
Q

What causes the anemia/ thrombocytopenia, and leukopenia with osteopetrosis?

A

Encroachment of bone on medulla of the bone

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17
Q

What causes the vision and hearing impairment of osteopetrosis?

A

CN impingement 2/2 ossification

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18
Q

What causes the hydrocephalus with osteopetrosis?

A

Ossification of the foramen magnum

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19
Q

What causes the acidosis with osteopetrosis?

A

Carbonic anhydrase deficiency results in a loss of bicarb in the blood, and an inability to excrete acid into the urine

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20
Q

What is the treatment for osteopetrosis?

A

Bone marrow transplant, which causes new and better osteocyte formation

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21
Q

What is the defect in rickets/osteomalacia?

A

Defective mineralization of osteoid 2/2 low levels of vit D

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22
Q

What are the four main causes of Vit D deficiency?

A
  • Decreased sun exposure
  • Poor diet
  • Malabsorption
  • Liver failure and renal failure
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23
Q

When does rickets usually present?

A

Less than 1 year old

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24
Q

What are the clinical features of rickets? (4)

A
  • Pigeon breast deformity
  • Frontal bossing
  • Rachitic rosary
  • Bowing of legs
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25
Q

What is depositied in abnormal places with rickets?

A

Osteoid

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26
Q

What is osteomalacia?

A

Low vit D in adults results in weak bone with an increased risk for fractures

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27
Q

What happen to serum Ca levels with osteomalacia?

A

Decreased

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28
Q

What happen to serum phosphate levels with osteomalacia?

A

Decreased

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29
Q

What happen to serum PTH levels with osteomalacia?

A

Increased

30
Q

What happen to serum alk phos levels with osteomalacia?

A

Increased

31
Q

What is the role of alk phos?

A

Used by osteoblasts to create an alkaline environment for bone to be laid down

32
Q

What diseases is characterized by a loss of trabecular bone mass?

A

Osteoporosis

33
Q

What are the three factors that determine the peak bone mass?

A
  1. diet
  2. exercise
  3. Vit D receptor inheritance
34
Q

What is the age that bone mass peaks?

A

30 years old

35
Q

The risk of osteoporosis is based on what two factors?

A

Peak bone mass and rate of bone loss thereafter

36
Q

What are the two most common form of osteoporosis?

A

Senile

Postmenopausal

37
Q

What are the clinical features of osteoporosis?

A

Bone pain and fractures in weight bearing areas

38
Q

What happens to serum Ca with osteoporosis?

A

Normal

39
Q

What happens to serum PTH with osteoporosis?

A

Normal

40
Q

What happens to serum phosphate with osteoporosis?

A

Normal

41
Q

What happens to serum alk phos with osteoporosis?

A

Normal

42
Q

How is bone density measured?

A

DXA scan

43
Q

True or false: there are no abnormal labs with osteoporosis

A

True

44
Q

What defines osteoporosis vs osteopenia?

A

Osteopenia = -1 to -2.4 SDs

Osteoporosis = -2.5 and lower

45
Q

What is the treatment for osteoporosis?

A

Exercise
Vit D
Calcium

46
Q

What is the MOA of bisphosphonates in treating osteoporosis?

A

Binds to phosphate in bone, and inhibits osteoclastic action (causes apoptosis of osteoclasts)

47
Q

What is the general pathophysiology of Paget’s disease of bone?

A

Imbalance between osteoclast and osteoblast action–first over osteoclast action, followed by osteoblast action that produce crappy bone

48
Q

When does Paget’s disease of bone usually present?

A

Late adulthood (60s)

49
Q

True or false: Paget’s disease of bone usually involves the entire skeleton

A

False–usually one or more, but not entire skeleton

50
Q

What are the three general stages of Paget’s disease of bone?

A
  1. Osteoclastic
  2. Mixed
    3 .Osteoblastic
51
Q

What is the end result of Paget’s disease of bone?

A

Thick, sclerotic bone that fractures easily

52
Q

What are the histological characteristics of Paget’s disease of bone?

A

Tons of eosinophilic bone, with lines that have not been sealed

(“Jigsaw puzzle” pattern)

53
Q

Jigsaw puzzle bone = ?

A

Paget’s disease of bone

54
Q

What are the classic features of Paget’s disease of bone?

A
  • Increased hat size
  • Hearing loss
  • Lion-like facies 2/2 bone malformation
55
Q

What lab is classically elevated in Paget’s disease of bone?

A

Alk phos

56
Q

What are the two major drugs that are used to treat Paget’s disease of bone?

A

Calcitonin

Bisphosphonates

57
Q

What causes the high output cardiac failure with Paget’s disease of the bone?

A

Proliferation of AV shunts in bones increases CO

58
Q

What cancer are patients with Paget’s disease at increased risk for?

A

Osteosarcoma (malignant proliferation of osteoblasts)

59
Q

Where does osteomyelitis usually come from?

A

Hematogenous spread to bone

60
Q

Where in the bone is osteomyelitis usually seen? (kids, adults)

A

Metaphysis in kids

Epiphysis in adults

61
Q

Is osteomyelitis usually bacterial, fungal, or viral?

A

Bacterial

62
Q

What is the most common bacteria that causes osteomyelitis?

A

Staph Aureus

63
Q

What is the most common bacteria that causes osteomyelitis in sickle cell patients?

A

Salmonella

64
Q

What are the patients that get osteomyelitis 2/2 pseudomonas?

A

DM and drug abusers

65
Q

What bone does TB classically infect?

A

Vertebral bodies

66
Q

What are the clinical features of osteomyelitis?

A

Bone pain with leukocytosis and fever

67
Q

What are the radiological findings of osteomyelitis?

A

Lytic focus surrounded by sclerosis

68
Q

How can you diagnose osteomyelitis?

A

Blood cultures

69
Q

What, generally, is avascular (aseptic) necrosis?

A

ischemic necrosis of the bone and bone marrow

70
Q

What are the causes of avascular (aseptic) necrosis?

A
  • Trauma/fracture
  • Steroids
  • Sickle cell
  • Caisson’s disease
71
Q

What are the major complications of avascular necrosis?

A

Osteoarthritis

Fractures

72
Q

What is Caisson’s disease?

A

“The bends” 2/2 to a reduction in ambient pressure, resulting in the formation of inert gas bubble in tissues, such as the joints, lungs, or brain

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