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Systems Path I > Ch 20 Part 1 > Flashcards

Ch 20 Part 1 Flashcards

1
Q

Osteonecrosis

A

bone death; avascular necrosis due to trauma

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2
Q

Osteomyelitis

A

bone marrow infection

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3
Q

Dysostosis

A

developmental anomaly of bone

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4
Q

Homeobox gene

A

structural development during embryonic development (tends to be regionalized)

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5
Q

Klippel-Feil Syndrome

A

Failure of cervical vertebrae to develop into 7 vertebrae

idiopathic congential fusion of any two cervical vertebrae

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6
Q

What is the name of the deformity that is often associated with Klippel-Feil Syndrome?

A

Sprengel’s deformtity

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7
Q

What is sprengel’s deformity?

A

fusion of scapula to the transverse process

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8
Q

What are some other associated findings with dysostosis?

A

Aplasia, supernumerary digits, and abnormal fusion of bones

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9
Q

What is aplasia?

A

absent or incomplete development with abnormal function

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10
Q

In association with dysostosis, where does abnormal fusion of bones usually occur?

A

usually in the digits

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11
Q

Dysplasia

A

mutations interfere with growth or homestasis (dwarfism)

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12
Q

Dysplasia of bone is termed?

A

osteodysplasia

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13
Q

Dysplasia of cartilage is termed?

A

chondrodysplasia

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14
Q

Osteogenesis Imperfecta is also called

A

Brittle bone disease

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15
Q

What type of collagen is mutated by Osteogenesis Imperfecta?

A

Type I

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16
Q

What chains of type I collagen are mutated in Osteogenesis Imperfecta?

A

Alpha 1 and Alpha 2 chains

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17
Q

What happens to the abnormal collagen suffering from Osteogensis Imperfecta?

A

it leads to premature breakdown

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18
Q

Is Osteogenesis Imperfecta autosomal recessive or dominant?

A

autosomal dominant

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19
Q

What structres are typically affected by Osteogenesis Imperfecta?

A

bones, eyes, teeth, inner ear bones (often leads to deafness), skin, and joints

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20
Q

What type of Osetogenesis Imperfecta is lethal in utero?

A

Type II

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21
Q

When is Type I Osteogenesis Imperfecta diagnosed?

A

in childhood

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22
Q

What are some common features associated with Type I O.I.?

A

fractures, etremeity bowing, scoliosis, ligamentous laxity, hearing loss, short stature

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23
Q

What is Zebra Stripe Sign?

A

it is associated with children who have Type I O.I. who have been treated with bisphosphonates and appears on X-ray in a zebra stripe fashion

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24
Q

What is the most common form of dwarfism?

A

Achondroplasia

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25
Q

A decrease in growth plate expansion is referred to as

A

Achondroplasia

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26
Q

What mutation leads to achondroplasia?

A

Fibroblast growth factor receptor (FGFR3)

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27
Q

What does the mutation of FGFR3 cause?

A

decreased cartilage synthesis and inhibited epiphyseal chondrocytes

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28
Q

About what percentage of Achondroplasia is caused by an autosomal dominant mutation of FGFR3?

A

25%

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29
Q

List some physical features associated with achondroplasia

A

short proxial extremities, lower extremity bowing, frontal bossing, midface hypoplasia

30
Q

To be considered a dwarf, you must be this height or shorter?

A

4’10” (147cm)

31
Q

Describe the spinal features of Achondroplasia

A

bullet vertebrae, hyperlordosis or kyphosis at birth, scoliosis, and spinal stenosis

32
Q

What parts of the vertebral column become stenotic with achondroplasia?

A

foramen magnum and spinal canal

33
Q

What can spinal stenosis of achondroplasia lead to?

A

possible brain compression or cardiovascular abnormalities (may be lethal)

34
Q

Describe Thanatophoric dwarfism?

A

Fatal: extremely small thorax and short long bones

perinatal respiratory failure

35
Q

What else can OsteoPETROSIS be called?

A

marble bone disease or Albers-Schonberg disease

36
Q

What is the main identifier of Osteopetrosis?

A

decreased osteoclast-mediated bone resoprtion

In other words, excessive over-mineralization of bone leads to brittleness

37
Q

What is the other main feature of osteopetrosis?

A

skeletal sclerosis (“stone-like” bone) which leads to increases in fractures

38
Q

Foraminal stenosis of ostepetrosis can lead to?

A

cranial nerve palsies

39
Q

What does the medullary cavity fill with in osteopetrosis?

A

deranged hematopoiesis

40
Q

What can deranged hematopoiesis of osteopetrosis lead to?

A

hepatosplenomegaly, recurrent infections, and anemia

41
Q

What is the treatment for osteopetrosis?

A

stem cell replacement

42
Q

List some typical X-ray features associated with osteopetrosis?

A

bright white appearance due to overly dense bone, lacking medulla in long bones, and Erlenmeyer flask deformity

43
Q

What do fractures of osteopetrosis look like on X-ray?

A

“chalk-stick fracture”

44
Q

What type of bone is most impacted by osteoporosis?

A

trabecular bone (cancelous spongy)

45
Q

What are some common bones affected by osteoporosis?

A

vertebral bodies, femoral neck, calcaneus

46
Q

A decrease in bone density leads to an increase in

A

porosity

47
Q

What T-score determines a major fracture risk?

A

2.5 SD and above

48
Q

What is primary Senile osteoporosis?

A

age-related osteoporosis

49
Q

What is the other form of primary osteoporsis?

A

Postmenopausal

50
Q

A decrease in growth factor equals a decrease in osteoblast ativity, with normal osteoclast activity describes what?

A

Senile osteoporosis

51
Q

Around what age does bone loss of .5% each year begin?

A

mid 20’s

52
Q

A decrease in estrogens accelerating bone loss describes

A

Postmenopausal osteoporosis

53
Q

What are the three factors that determine peak bone mass?

A

physical activity, genetic factors, and nutrition

54
Q

Describe how one may maximize bone desnity in young adulthood.

A

Diet, regular exercise (resistance training, athletics), Ca+ and Vit. D supplementation

55
Q

List some common risk factors for osteoporosis

A

Increased age, sedentary lifestyle, family history, malnutrition, and malsbsorption

56
Q

What are some common fractures typically associated with osteoporosis?

A

vertebral compression fractures,and femoral neck fractures

57
Q

A vertebral compression fracture as a result from osteoporosis in the thoracolumbar region leaves one at risk for

A

pneumonia

58
Q

A femoral neck fracture as a result of osteoporosis leaves one at risk for

A

pulmonary emboli

59
Q

What is the preferred method for diagnosing osteoporosis?

A

DEXA scan, or bone density scan

60
Q

What is the required bone percentage loss to have osteoporosis?

A

30-40% bone loss

61
Q

List some ways one can prevent osteoporosis

A

physical activity prior to age 30, Ca+ and Vit. D supplementation, and pharmacological agents

62
Q

Bone in Paget’s Disease appears to have a _____ appearance

A

“shaggy”

63
Q

In short, describe how Paget’s disease affects bone

A

regional osteoclast activity

excessive bone formation which leads to disorganized lamellar bone with greater bone mass, but is weakened

64
Q

How is Paget’s disease diagnosed?

A

serum testing to determine if alkaline phosphatase levels are eleavted (byproduct of osteoblast activity)

65
Q

Bone in Paget’s disease is said to be in this pattern

A

mosaic or “jigsaw” pattern

66
Q

In Idiopathic Paget’s disease, what antigens are attached on osteoclasts?

A

Paramyxoviridae

67
Q

What percentage of Idiopathic Paget’s diease is asymptomatic?

A

70-90%

68
Q

How is Idiopathic Paget’s Disease diagnosed?

A

through incidental X-ray findings

69
Q

What is the MC (most common) feature of Idiotpathic Paget’s disease?

A

neck and back pain

70
Q

What is an “ivory vertebra sign”?

A

On x-ray findings a vertebral body appears very white in comparison to the others

71
Q

What three ailments is an “ivory vertebra sign” indicative of?

A

Paget’s disease, metastatic cancer, and lymphoma

Systems Path I (1 decks)

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