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Systems Pathology Exam One > Musculoskeletal Disorders Part 1 > Flashcards

Musculoskeletal Disorders Part 1 Flashcards

0
Q

What is mutated in osteogenesis imperfecta?

A

Type 1 collagen (alpha 1 or alpha 2 chains)

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1
Q

What is another name for osteogenesis imperfecta?

A

Brittle bone disease

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2
Q

What is the frequency of osteogenesis imperfecta?

A

1:20,000 live births

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3
Q

How is type I collagen affected by osteogenesis imperfecta?

A

Premature breakdown of collagen

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4
Q

Osteogenesis imperfecta follows what type of genetic pattern?

A

Autosomal dominant

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5
Q

What is the main location affected by osteogenesis imperfecta?

A

Extracellular matrix (ECM)

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6
Q

What are the specific areas affected by osteogenesis imperfecta?

A

Eyes, inner ear bones, skin, joints, teeth

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7
Q

Osteogenesis imperfecta affecting the inner ear bones can lead to what issue?

A

Deafness

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8
Q

What type of osteogenesis imperfecta results in a normal lifespan nonetheless?

A

Type I

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9
Q

Which type of osteogenesis imperfecta is lethal in utero?

A

Type II

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10
Q

What are the two extreme issues with type II osteogenesis imperfecta?

A

Cerebral hemorrhage and respiratory failure

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11
Q

Why is cerebral hemorrhage common with type II osteogenesis imperfecta?

A

Weak skull

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12
Q

What is the unique effect of osteogenesis imperfecta on the eye?

A

Abnormal collagen of the sclera (choroid) giving a bluish appearance instead of white

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13
Q

With what type of osteogenesis imperfecta does abnormal collagen of the sclera occur?

A

Type I

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14
Q

Multiple fractures, extremity bowing, scoliosis, ligamentous laxity (dislocations), and hearing loss are associated with what musculoskeletal congenital disorder?

A

Osteogenesis imperfecta

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15
Q

What is an important chiropractic note to remember with those with osteogenesis imperfecta?

A

Their bones are extremely fragile (low force adjustments)

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16
Q

The fragility of the bones of patients with osteogenesis imperfecta is a contraindication to what type of adjustments?

A

Extremity adjustments

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17
Q

The zebra stripe sign is associated with what musculoskeletal congenital disorder?

A

Osteogenesis imperfecta

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18
Q

What is the treatment used for children with osteogenesis imperfecta?

A

Bisphosphonates

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19
Q

What is the most common form of dwarfism?

A

Achondroplasia

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20
Q

What are the results of achondroplasia?

A

Decreased cartilage synthesis and decreased growth plate expansion

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21
Q

What location is specifically affected by the decreased cartilage synthesis with achondroplasia?

A

Growth plate

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22
Q

What is the genetic mutation with achondroplasia?

A

Fibroblast growth factor receptor (FGFR3) mutation

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23
Q

What is the result of a FGFR3 mutation in achondroplasia?

A

Inhibition of epiphyseal (growth plate) chondrocytes

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24
Q

Is achondroplasia usually sporadic or inherited?

A

Sporadic (75%)

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25
Q

What is the genetic pattern of achondroplasia?

A

Autosomal dominant

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26
Q

What musculoskeletal congenital condition is accompanied by short proximal extremities, lower extremity bowing, frontal bossing, and mid face hypoplasia (low nasal bridge)?

A

Achondroplasia

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27
Q

What percentage of achondroplasia diagnoses are inherited?

A

25%

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28
Q

What is frontal bossing (as seen in achondroplasia)?

A

Rounding of the frontal bone

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29
Q

What type of dwarfism is primarily endocrine oriented and is more rare than achondroplasia?

A

Hypopituitary dwarfism

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30
Q

What is the frequency of achondroplasia?

A

1:10,000

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31
Q

Spinal issues including hyperlordosis and hyperkyphosis at birth, bullet vertebrae, scoliosis, and spinal stenosis are common among which musculoskeletal genetic disorder?

A

Achondroplasia

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32
Q

What two specific types of spinal stenosis are common among achondroplasia patients?

A

Foramen magnum stenosis and spinal canal stenosis

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33
Q

What is usually the death of those with achondroplasia?

A

Brain stem compression

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34
Q

What is the result with brain stem compression with achondroplasia?

A

Cardiovascular abnormalities (may be lethal)

35
Q

What type of dwarfism is completely fatal?

A

Thanatophoric dwarfism

36
Q

What is the frequency of thanatophoric dwarfism?

A

1:20,000 births

37
Q

Extremely small thorax with shortened long bones leading to perinatal respiratory failure occurs with which musculoskeletal congenital disorder?

A

Thanatophoric dwarfism

38
Q

What is the unique appearance of the vertebrae in patients who have achondroplasia?

A

Bullet-shaped

39
Q

What is trident hand that is associated with achondroplasia?

A

Underdevelopment of the bones in the hands

40
Q

What rare genetic disorder is a result of decreased osteoclast-mediated bone resorption?

A

Osteopetrosis

41
Q

What type of bone cell is inhibited in osteopetrosis & what is the result of that?

A

Osteoclasts; osteoblasts therefore overwork and build up extreme bone density leading to increased fractures

42
Q

Why are cranial nerve palsies associated with osteopetrosis?

A

Foraminal stenosis occurs narrowing the bony canals for the nerves

43
Q

Why is deranged hematopoiesis common with osteopetrosis?

A

The medullary cavity fills with extra bone due to the decreased osteoclast activity

44
Q

What are some issues that occur when the medullary cavity fills with excess bone in osteopetrosis?

A

Hepatosplenomegaly, recurrent infections, anemia

45
Q

Why does hepatosplenomegaly occur with osteopetrosis?

A

The liver and spleen attempt to take over the function of the bone marrow that has been compressed and therefore hypertrophy

46
Q

What is the treatment for osteopetrosis?

A

Stem cell replacement

47
Q

Erlenmeyer flask deformity is present among which musculoskeletal disorder?

A

Osteopetrosis

48
Q

What is the most important form of osteopenia?

A

Osteoporosis

49
Q

What is the general definition of osteoporosis?

A

Loss of bone mass and increased porosity

50
Q

What is osteopenia?

A

Reduced bone mineralization

51
Q

At what point does osteopenia become the severe form of osteoporosis?

A

T score of 2.5 standard deviation (threshold from the norm)

52
Q

What is usually the cause of localized osteoporosis?

A

Disuse/isolation (example = arm in a cast)

53
Q

What is the most common type of osteoporosis?

A

Primary

54
Q

When does primary osteoporosis occur?

A

Postmenopausal, senile (age-related)

55
Q

Neoplasia, hyperparathyroidism, nutrient deficiency, and drug exposure are causes of what which type of osteoporosis?

A

Secondary

56
Q

Enlargement of what organ is a cause of secondary osteoporosis?

A

Parathyroid

57
Q

What types of drugs can be a cause of secondary osteoporosis?

A

Alcohol, smoking, long term corticosteroids

58
Q

Osteoporosis is more likely to affect what kind of bone?

A

Trabecular (cancellous/spongy) bone

59
Q

How is the cortex of the bone affected by osteoporosis?

A

Thinned (not completely destroyed)

60
Q

What are specific common locations of fractures as a result of osteoporosis due to these areas possessing increased amounts of trabecular bone?

A

Vertebral bodies, femoral neck, calcaneus

61
Q

What type of bone cell is less impacted by aging and therefore retains normal activity?

A

Osteoclasts

62
Q

Beginning in mid-20s, bone loss occurs at what rate?

A

.5% per year

63
Q

What percentage of postmenopausal women experience an osteoporosis related fracture?

A

50%

64
Q

What percentage of males (of the same age as postmenopausal women) experience an osteoporosis related fracture?

A

3%

65
Q

Reduction in what hormone accelerates bone loss as seen in postmenopausal women with osteoporosis?

A

Estrogens

66
Q

Activity of what substances are decreased in senile osteoporosis?

A

Growth factors and osteoblasts

67
Q

What is the age of maximum bone density?

A

Mid adulthood (25 years of age)

68
Q

How can osteoporosis be prevented?

A

Diet and exercise

69
Q

What types of exercise can help prevent osteoporosis?

A

Resistance training, athletics, increasing weight load more than overall cycles

70
Q

What supplements may benefit those with or prevent osteoporosis?

A

Calcium and vitamin D

71
Q

Calcium and vitamin D deficiency are most common among what gender?

A

Females

72
Q

Who are at risk for osteoporosis?

A

Older people of both ages, postmenopausal women

73
Q

Osteoporosis is usually asymptomatic, true or false?

A

True

74
Q

When does osteoporosis become symptomatic?

A

With skeletal fragility

75
Q

What is the exaggerated forward hunching of those with osteoporosis called that is due to multiple compression fractures?

A

Dowager’s hump

76
Q

What are some concerns following surgery for a femoral neck (hip) fracture?

A

Pneumonia, deep vein thrombosis, pulmonary embolism (result of disablement)

77
Q

What type of bone cells is affected by the menopausal cause of osteoporosis?

A

Osteoclasts (increased)

78
Q

What type of bone cells is affected by the aging cause of osteoporosis?

A

Osteoblasts (decreased synthesis)

79
Q

What hormone is decreased with the menopausal cause of osteoporosis?

A

Estrogen

80
Q

What is another feature important to consider with the aging cause of osteoporosis besides the reduction in osteoblast synthesis?

A

General sedentary lifestyle

81
Q

What is the treatment for osteoporosis in females?

A

Estrogen therapy

82
Q

What are some risk factors with estrogen treatment for osteoporosis?

A

Deep vein thrombosis (increased blood clots), endometrial cancer, and breast cancer

83
Q

What is the appropriate way of determining osteoporosis?

A

DEXA scan

84
Q

What are preventative mechanisms for osteoporosis?

A

Activity, supplements, bisphosphonates

Systems Pathology Exam One (7 decks)

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