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gen path final > Musculoskeletal > Flashcards

Musculoskeletal Flashcards

1
Q

Osteogenesis Imperfecta is a group of hereditary bone disorders with abnormal synthesis of ___________

A

type I collagen

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2
Q

T/F: Most forms of OI are autosomal dominant

A

true

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3
Q

what are the 2 hallmark signs of Osteogenesis Imperfecta?

A

1) Blue sclera

2) opalescent teeth

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4
Q

T/F: the opalescent teeth of Osteogenesis imperfecta are indistinguishable from dentinogenesis imperfecta

A

True

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5
Q

what does the PROGNOSIS of Osteogenesis imperfecta depend on?

A

depends on:

1) type of OI
2) expression of the gene

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6
Q

Osteopetrosis is a goup of rare hereditary bone disorders with defective _______________

A

bone remodeling (osteoclast dysfunction)

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7
Q

what are the characteristics of bone affected with Osteopetrosis ?

A

Affected bone is dense, but structurally unsound and weak

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8
Q

Patients with Osteopetrosis are susceptible to what complications?

A

Prone to:

1) fractures
2) cranial nerve compression
3) infections

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9
Q

why can bone marrow transplants help people with Osteopetrosis?

A

transplantation may re-populate functional osteoclasts (derived from monocyte precursors)

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10
Q

_____________ is defined as “Increased porosity of the skeleton resulting from reduced bone mass”

A

osteoporosis

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11
Q

what conditions will increase the risk for osteoporosis?

A

** reduced estrogen in women

  • lower androgens in males
  • low physical activity
  • old age (causes drop in hormone levels)
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12
Q

half of women will sustain a bone fracture by what age?

A

90

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13
Q

what are the most common sites for bone fractures as a result of osteoporosis?

A

A) vertebral bodies
B) pelvis
C) femoral neck

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14
Q

what are the 3 types of PRIMARY osteoporosis?

A

1) Postmenopausal
2) Senile
3) idiopathic

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15
Q

the primary treatment for osteoporosis includes:

A
  • adequate dietary calcium intake
  • vitamin D supplementation
  • regular weight-bearing exercise
  • hormone therapy (estrogen)
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16
Q

Paget disease (osteitis deformans) is characterized as:

A

Abnormal, dense bone formation which is structurally weak and prone to fracture

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17
Q

T/F: Pagets disease often affects multiple bones

A

TRUE

85% of cases are “polyostotic “

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18
Q

most cases of Pagets disease show what clinical signs?

A

NONE

  • most are asymptomatic, only detected on radiographs
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19
Q

what is the osteolytic stage of Pagets disease?

A

frenzied, regional osteoclastic activity and bone resorption

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20
Q

what is the mixed osteoclastic-osteoblastic stage of Pagets disease?

A

exuberant osteoblastic activity and bone formation

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21
Q

what is the osteosclerotic stage of Pagets disease?

A

apparent exhaustion of cellular activity

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22
Q

name the 3 “stages” of Pagets disease:

A

1) osteolytic stage
2) mixed osteoclastic-osteoblastic stage
3) osteosclerotic stage

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23
Q

what is the net clinical result of the abnormal/dysfunctional bone mass created during Pagets disease?

A

skeletal deformation caused by accumulation of excessive amounts of abnormal, unstable bone

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24
Q

___________ lesions are those involving only one bone. What percent of Pagets disease cases show this pattern?

A
  • monostotic

- accounts for 15% of pagets disease cases

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25
Q

polyostotic lesions (those involving more than 1 bone) account for ____% of paget’s disease

A

85%

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26
Q

_______ bone is the HISTOLOGICAL pattern of bone found in paget’s disease?

this is one of the “hallmarks” of Paget’s

A

mosaic

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27
Q

In Paget’s disease, the RADIOGRAPHIC features form a _____ pattern of bone

A

cotton-wool pattern

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28
Q

what is leontiasis ossea?

A
  • complication of Paget’s disease
  • “lion face”
  • characterized by an overgrowth of the facial and cranial bones
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29
Q

what % of Paget’s disease patients are asymptomatic? how is Paget’s diagnosed?

A
  • 80-90% are asymptomatic

- The diagnosis is made secondary to the radiographic and microscopicappearances

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30
Q

what substance is elevated in the urine of people with Page’ts disease? what is elevated in the serum?

A
  • URINARY hydroxyproline (⇑bone resorption)

- SERUM alkaline phosphatase (⇑bone apposition)

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31
Q

Patients with Paget’s disease are at a higher risk to develop what form of cancer?

A

osteosarcoma

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32
Q

how does PTH effect calcium homeostasis?

A

1) osteoclast activation
2) increased calcium resorption by the kidneys
3) increased synthesis of vitamin D (kidneys) resulting in increased calcium absorption from the gut.

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33
Q

patients with Hyperparathyroidism often develop skeletal changes (bone appears ground glass and osteoporotic) due to _____________

A

activation of osteoclasts

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34
Q

Primary hyperparathyroidism is an important cause of ____________

A

hypercalcemia

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35
Q

In more than 95% of cases, primary hyperparathyroidism is caused by what?

A

parathyroid adenomas

or

hyperplasia (less commonly by parathyroid carcinoma)

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36
Q

** what is the most common manifestation of PRIMARY hyperparathyroidism? **

A

an increase in serum calcium due to an increased level of PTH.

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37
Q

what symptoms are associated with primary hyperparathyroidism?

A

painful bones, renal stones, abdominal groans, and psychic moans

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38
Q

Secondary Hyperparathyroidism is caused by what?

A

any condition associated with a chronic depression in the serum calcium level

39
Q

in secondary Hyperparathyroidism, low serum calcium leads to compensatory over-activity of ___________

A

the parathyroid glands

40
Q

____________ is by far the most common cause of secondary hyperparathyroidism

A

renal failure

41
Q

decreased phosphate excretion (during kidney failure) will lead to what

A

hyperphosphatemia

42
Q

which has more severe clinical manifestations: Primary, or secondary, hyperparathyroidism?

A

Primary

43
Q

__________ refers to an infection spreading through the medullary spaces of a bone

A

Osteomyelitis

44
Q

what are the 3 ways in which bacteria can invade the bone?

3 causes of osteomyelitis

A
  1. Hematogenous spread
  2. Contiguous infection (i.e. odontogenic infections)
  3. Direct traumatic introduction (i.e. compound fractures, surgical procedures)
45
Q

Hematogenous osteomyelitis is caused mostly by what bacteria?

A

Staphylococcus aureus

46
Q

With progression of osteomyelitis, ill-defined areas of radiolucency develop and may be intermixed with radiopaque ________

A

sequestra

47
Q

__________ is a disorder characterized by progressive replacement of bone by a proliferation of fibrous tissue intermixed with unorganized, woven bone

A

Fibrous Dysplasia

48
Q

name the 3 types of fibrous dysplasia:

A
  1. Monostotic fibrous dysplasia (one bone)
  2. Polyostotic fibrous dysplasia without endocrine involvement
  3. Polyostotic fibrous dysplasia in association with endocrinopathies
49
Q

Polyostotic fibrous dysplasias are often associated with what 2 characteristics?

A

café-au-lait spots*

occasionally with endocrine disorders

50
Q

Jaffe-Lichtenstein Syndrome is what form of fibrous dysplasia?

A

Polyostotic fibrous dysplasia WITHOUT endocrine involvement

  • arises in early childhood, can continue into adulthood
  • NO endocrine involvement/disorder
51
Q

what are Cafe-au-lait spots?

A

= melanin pigmentation spots of the skin

  • found in POLYostotic Fibrous dysplasias

(both Jaffe-lichtenstein and McJune-Albright)

52
Q

which form of Fibrous dysplasia effects more females than males?

A

Polyostotic fibrous dysplasia in association WITH endocrinopathies

= McCune-Albright syndrome

53
Q

Histopathological, AND radiographic features of Fibrous dysplasia:

A

*** Radiograph: “Ground Glass” looking areas of increased radiopacity

Histopath: Chinese characters

54
Q

Outside of lymphoproliferataive diseases, __________ is the most common primary malignant tumor of bone

A

osteosarcoma

55
Q

who is at higher risk for osteosarcomas? what region of bones are most at risk?

A
  • patients are younger than age 20 (mean age 18yrs)

- metaphyseal region of long bones in the extremities is the most frequent site
60% occur in the knee

56
Q

___________ is a bone producing malignancy. what is the 5-year survival rate of these disorders?

A

Osteosarcoma

  • 5 yr = 60% survival
57
Q

what is the most common clinical presentation for osteosarcomas? what are the radiographic characteristics?

A
  • clinical: A painful enlarging mass

- radiograph: radiolucent-radiopaque lesion that may present with a “sunburst” appearance

58
Q

the _____________ is a characteristic feature of osteosarcomas, and is the formation of an acute angle between the neoplastic bone and the cortex

A

Codman’s triangle

59
Q

T/F: osteosarcomas are associated with “sunburst” radiographs, and the formation of Codman’s triangle

A

true

60
Q

_____________ (degenerative joint disease) is the most common disorder of the joints and is a very frequent, if not inevitable, part of aging.

A

Osteoarthritis

61
Q

The fundamental feature of osteoarthritis is:

A

degeneration of the articular cartilage

62
Q

T/F: unlike rheumatoid arthritis, osteoarthritis is not primarily an inflammation of the joint

A

true

63
Q

what are the most important factors for osteoarthritis?

A

aging and mechanical effects

  • mechanical stress = major role in development
64
Q

T/F: a PRIMARY feature of osteoarthritis is a structural change in the underlying bone of effected joints

A

FALSE

  • bone changes are secondary to degeneration of articular cartilage
65
Q

what are the steps in the progression of osteoarthritis?

A
  • the cartilage cap develops vertical fissures
  • With time, these fissures extend through the full thickness to the subchondral bone
  • portions of the cartilage are eroded completely with exposure of the underlying bone
66
Q

what are the symptoms of osteoarthritis?

A
  • after age 50
  • crepitus (grating or popping sensation) & joint stiffness
  • deep, aching pain
  • pain, deformity, and limitation of motion develop late
67
Q

during osteoarthritis: At the margins of the joint, small bony outgrowths termed _________ arise and help to further inflame the surrounding synovial membrane

A

osteophytes

68
Q

In contrast to rheumatoid arthritis, ___________ of the joints does not occur in osteoarthritis

A

fusion

69
Q

Gout is a disorder caused by tissue accumulation of excessive amounts of _______

A

uric acid

70
Q

in patients with Gout, crystallization of the uric acid can cause recurrent bouts of _______

A

arthritis

71
Q

high uric acid in body fluids leads to precipitation of __________ that trigger a chain of events that culminate in joint injury

A

sodium URATE crystals

72
Q

Gout can result in what 3 things?

A

1) episodic, acute arthritis
2) tophus (tophi) formation
3) kidney damage

73
Q

what joint is effected in 90% of gout patients? are men or women more likely to suffer from gout?

A
  • great toe
  • more common in males

(Peripheral joints like the hands and feet are affected more frequently)

74
Q

what is a “tophus”?

A
  • feature of Gout
  • Tophus = a layer/deposit of crystals
  • Urate Crystals become encrusted on the articular surface and even penetrate deeply into surrounding bone and soft tissue
75
Q

During CHRONIC arthritis from gout, erosion and progressive destruction of the joint occurs secondary to tophi (mult tophus) and resembles _____________

A

advanced osteoarthritis

76
Q

Sodium Urate crystals in the joints of Gout sufferers will trigger the chemotaxis of what cell type? what does this cause?

A

neutrophils & monocytes

  • neutrophils release inflammatory signaling molecules
77
Q

treatments for gout:

A

1) Diet modification
2) Colchicine, allopurinol
3) NSAIDs for pain

78
Q

what disease constitute a group of inherited abnormalities of muscle which vary from mild motor weaknesses to severe life-threatening alterations

A

muscular dystrophies

79
Q

what is the most common (and devastating) form of muscular dystrophy?

A

Duchenne muscular dystrophy

80
Q

characteristics of Duchenne muscular dystrophy:

A
  • X-linked recessive disorder
    a) predominantly in the male offspring
  • caused by the absence of a structural protein
  • The initial signs appear in childhood
  • death usually ensues before age 30 due to cardiac/respiratory involvement
81
Q

what protein is missing in patients with Duchenne dystrophy? what is the function of this protein:

A

dystrophin

  • Dystrophin attaches portions of the muscle fibers to the cell membrane
82
Q

clinical progression of Duchenne muscular dystrophy:

A
  • affected muscles undergo progressive degeneration
  • process begins in the pelvis and shoulder girdles
    a) eventually spreads to extremities
83
Q

why are the leg muscles are often enlarged in patients with Duchenne?

A

enlarged secondary to pseudohypertrophy

replacement of lost muscle with fibrofatty tissue

84
Q

what is Myasthenia gravis?

A
  • autoimmune disease

- results in destruction of acetylcholine receptors in the neuromuscular junction

85
Q

manifestation of myasthenia gravis:

A

weakness and prominent fatigability of voluntary muscles

  • most active muscles generally are the most severely affected (eyes, face, chewing, swallowing, breathing)
86
Q

are males or females more likely to have myasthenia gravis?

A

FEMALES

ANY AGE

inset often insidious

87
Q

many sufferers of myasthenia gravis are also likely to have abnormalities of what organ?

A

thymus abnormalities

88
Q

common clinical signs of Myasthenia Gravis:

A

A) ptosis: drooping of eyelids

B) diplopia: double vision

89
Q

Treatment and prognosis for Myasthenia Gravis:

A

TREATMENTS
A) Cholinesterase inhibitors, immunosuppression, thymectomy may induce remission

B) sometimes disease spontaneously stops

PROGNOSIS
- 5-year survival is 95%

90
Q

what are the available for treatments for Paget’s disease of bone?

A
  • bisphosphonates
  • calcitonin

**no permanent solution exists

91
Q

Osteitis Fibrosa Cystica (a condition caused by hyperparathyroidism), is characterized as:

formation ofcyst-like ___________ of bone

A

brown tumors

92
Q

what is a “involucrum “? what disease is it associated with?

A
  • rim of new bone growth around “sequestrum” (dead bone)

- found in osteomyelitis

93
Q

Problems with eye muscles and muscles of mastication may be initial presentation for what disease?

A

Myasthenia Gravis

muscles that get worked more will show symptoms sooner

gen path final (8 decks)

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