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Musculoskeletal and Connective Tissue > Bone tissue pathology > Flashcards

Bone tissue pathology Flashcards

1
Q

Achondroplasia –> problem

A

failure of longitudinal bone growth (endochondral ossification) –> short limbs

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2
Q

Achondroplasia –> appearance

A

short extremities with normal sizes head and chest

large head RELATIVE to limbs

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3
Q

Achondroplasia –> membranous ossification

A

not affected (normal head and chest)

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4
Q

Achondroplasia –> pathophysiology

A

constitutive activation of FGFR3 –> inhibits chondrocyte proliferation –> impaired cartilage proliferation in growth plate –> impaired endochondral ossification

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5
Q

mutation in achondroplasia

A

FGFR3 (activation)

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6
Q

Achondroplasia –> sporadic vs inherited mutation

A

> 85% sporadic

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7
Q

Achondroplasia –> inherited type - mode of inheritance

A

AD (if homozygosity –> lethal)

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8
Q

homozygotic achondroplasia

A

lethal

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9
Q

Achondroplasia is the MCC of

A

dwarfism

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10
Q

Dwarfism is

A

a condition of short stature

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11
Q

MCC of Dwarfism

A

achondroplasia

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12
Q

achondroplasia - mental function

A

normal

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13
Q

achondroplasia - life span

A

normal

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14
Q

achondroplasia - fertility

A

normal

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15
Q

achondroplasia - sporadic mutation frequency is increased with

A

paternal age

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16
Q

osteopetrosis is also called

A

marble bone disease

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17
Q

osteopetrosis (marble bone disease) - pathophysiology

A

Carbonic anhydrase –> impair ability of osteoclast to generate acidic environment (necessary for bone resorption) –> thickened, dense bones

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18
Q

thickened, dense bones of osteopetrosis prone to

A

fractures

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19
Q

osteopetrosis - clinical manifestations (why)

A
  1. pancytopenia (bone fills marrow space)
  2. extramedullary hematopoiesis (bone fills marrow)
  3. cranial nerve inmpingement and palsies (narrowed foramina)
  4. hydrocephalus (narrowing of the foramen magnum)
  5. bone fractures
  6. Renal tubular acidosis (carb anhydr II mut)
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20
Q

foramen magnum?

A

the hole in the base of the skull through which the spinal cord passes.

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21
Q

osteopetrosis - nerve inpingemeted and palsies can cause

A

vision and hearing impairment

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22
Q

osteopetrosis - renal involvement

A

renal tubular acidosis (carb anhydr II mut) –> decreased tubular reabsorption of HCO3- –> metabolic acidosis

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23
Q

osteopetrosis - X-RAY appearance

A

bone - in - bone appearance

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24
Q

osteopetrosis - cranial nerve inmpingement and palsies due to

A

narrowed foramina

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25
Q

osteopetrosis - hydrocephalus due to

A

narrowing of the foramen magnum

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26
Q

treatment of osteopetrosis (why)

A

Bone marrow transplant is potentially curative as osteoclasts are derived from monocytes

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27
Q

types of osseous tissue

A
  1. cortical bone

2. trabecular bone

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28
Q

trabecular bone is also called

A

spongy bone

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29
Q

Primary osteoporosis?

A

trabecular (spongy) bone loses mass an interconnections despite normal bone mineralization and lab values

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30
Q

primary osteoporosis - Ca2+ leves

A

normal

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31
Q

primary osteoporosis - Pi leves

A

normal

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32
Q

primary osteoporosis - diagnosis by

A
  1. bone mineral density test (DEXA)

2. fragility fracture of hip or vertebra

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33
Q

DEXA - osteoporosis if

A

T-score less than -2.5

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34
Q

2ry osteoporosis can be caused by

A

A. DRUGS (1. long term exogenous steroid use 2. anticonvulsants 3. anticoagulants 4. thyroid replacement therapy 5. alcohol)
B. OTHER medical conditions (1. hyperparathyroidism 2. hyperthyroidism 3. MM 4. malabsorption syndromes)

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35
Q

primary osteoporosis can lead to

A
  1. vertebral compression fractures
  2. fractures of femoral neck
  3. distal radius fracture
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36
Q

distal radius fracture is also called

A

Colles fracture

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37
Q

vertebral compression fractures - presentation

A
  1. acute back pain
  2. loss of height
  3. kyphosis
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38
Q

Colles fracture is

A

distal radius fracture

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39
Q

primary osteoporosis types

A 
type 1 (post-menopausal)
type 2 (senile)
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40
Q

type 1 (post-menopausal) osteoporosis - mechanism

A

decreased estrogen levels –> increased bone resorption

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41
Q

osteoporosis - alkanine phosphate levels

A

normal

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42
Q

type 2 (senile) affects

A

men and women >70 years old

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43
Q

primary osteoporosis - prophylaxis

A
  • regular weight bearing exercise

- Ca2+ and vitamin D intake throughout adulthood

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44
Q

primary osteoporosis - treatment

A
  • biphosponates
  • PTH analogs
  • SERMs
  • calcitonin
  • denosumab
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45
Q

primary osteoporosis - treatment - mechanism of biphosponates

A

induce apoptosis of osteoclasts

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46
Q

denosumab - mechanism of action

A

monoclonal antibody against RANKL

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47
Q

Vitamin D deficiency can cause

A

adults –> osteomalacia (defective mineralization of osteoid)
children –> rickets (defective mineralization of cartilaginous growth plates)

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48
Q

Vitamin D deficiency –> condition of bones (mechanism)

A

Vitamin D deficiency –> defective mineralization/calcification of osteoid –> soft bones that bow out

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49
Q

Vitamin D deficiency - serum P level(mechanims)

A

decreased vitamin D –> decreased serum Ca2+ –> increased PTH secretion –> DECREASED SERUM Pi

50
Q

Vitamin D deficiency - Ca2+

51
Q

Vitamin D deficiency - ALP level (why)

A

increased ALP (because of osteoblast hyperactivity - osteoblasts require alkaline environment)

52
Q

Osteonecrosis is AKA

A

avascular necrosis

53
Q

osteonecrosis (avascular necrosis) - pathology

A

infraction of bone and marrow

54
Q

osteonecrosis (avascular necrosis) - clinical presentation

55
Q

osteonecrosis (avascular necrosis) - MC site

A

femoral head

56
Q

osteonecrosis (avascular necrosis) - MC site and why

A

femoral head

due to insufficiency of medial circumflex femoral artery

57
Q

causes of osteonecrosis (avascular necrosis)

A 
mnemonic ASSEPTIC + slipped capital femoral epiphysis
Alcoholism 
Sickle cell anemia 
Storage (Gaucher disease) 
Exogenous/Endogenous steroids 
Pancreatitis 
Trauma
Idiopathic (Legg-Calve-Perthes disease)
Caisson ("the bends")
slipped capital femoral epiphysis
58
Q

Caisson disease is also called (why)

A

“bends” for joint or skeletal pain

59
Q

idiopathic osteonecrosis (avascular necrosis) is AKA

A

Legg-Calve-Perthes disease

60
Q

Legg-Calve-Perthes disease?

A

idiopathic osteonecrosis (avascular necrosis)

61
Q

X-ray of femoral head osteonecrosis (avascular necrosis)

A

irregular lucencies in femoral heads with adjacent sclerosis

62
Q

MRI of femoral head osteonecrosis (avascular necrosis)

A

dark serpiginous necrotic bone

63
Q

Paget disease of bone is also called

A

osteitis deformans

64
Q

Paget disease of bone (osteitis deformans) - frequency

65
Q

Paget disease of bone (osteitis deformans) - localized or general

66
Q

Paget disease of bone (osteitis deformans) - pathophysiology

A

LOCALIZED disorder of bone remodeling caused by increased in both osteoblastic and osteoclastic activity

67
Q

Paget disease of bone (osteitis deformans) - Ca2+ levels

68
Q

Paget disease of bone (osteitis deformans) - Pi levels

69
Q

Paget disease of bone (osteitis deformans) - PTH levels

70
Q

Paget disease of bone (osteitis deformans) - ALP levels

71
Q

Paget disease of bone (osteitis deformans) - increased risk of

A

osteogenic sarcoma

72
Q

vitamin D deficiency in seen with

A
  1. decreased sun exposure 2. liver failure 3. malabsorption 4. poor diet 5. renal failure
73
Q

Paget disease of bone (osteitis deformans) - etiology

A

unknown

probably viral

74
Q

Paget disease of bone (osteitis deformans) - increased risk for

A

osteogenic sarcoma

75
Q

Paget disease of bone (osteitis deformans) - clinical presentation

A
  1. increased hat size
  2. hearing loss
  3. hight output cardiac failure
  4. long bone chalk-stick fractures
76
Q

Paget disease of bone (osteitis deformans) - mechanism of hearing loss

A

auditory foramen narrowing

77
Q

Paget disease of bone (osteitis deformans) - mechanism cardiac failure

A

increased formation of arteriovenous shunts

78
Q

Paget disease of bone (osteitis deformans) - architecture

A

Mosaic pattern of woven and lamellar bone pp> osteocytes with lacunae in chaoitic juxtapositions

79
Q

Paget disease of bone (osteitis deformans) - stages (and process)

A
  1. Lytic - osteoclasts
  2. Mixed - osteoclasts and osteoblasts
  3. Sclerotic - osteoblasts
  4. Quiescent - minimal osteoclast/osteoblast activity
80
Q

osteoporosis - serum Ca2+

81
Q

osteoporosis - Pi

82
Q

osteoporosis - ALP

83
Q

osteoporosis - PTH

84
Q

Osteopetrosis - PTH

85
Q

osteopetrosis - ALP

86
Q

osteopetrosis - Pi

87
Q

osteopetrosis - serum Ca2+

A

normal/decreased

88
Q

osteopetrosis - serum Ca2+ - when is decreased

A

in severe malignant disease

89
Q

Paget disease of bone (osteitis deformans) - serum Ca2+

90
Q

Paget disease of bone (osteitis deformans) - Pi

91
Q

Paget disease of bone (osteitis deformans) - ALP

92
Q

Paget disease of bone (osteitis deformans) - PTH

93
Q

osteomalacia/rickets - serum Ca2+

94
Q

osteomalacia/rickets - Pi

95
Q

osteomalacia/rickets - ALP

96
Q

osteomalacia/rickets - PTH

97
Q

causes of hypervitaminosis D

A
  1. oversupplementation

2. granoulomatous disease

98
Q

hypervitaminosis D - serum Ca2+

99
Q

hypervitaminosis D - Pi

100
Q

hypervitaminosis D - ALP

101
Q

hypervitaminosis D - PTH

102
Q

primary hyperparathyroidism causes

A

osteitis fibrosa cystica

103
Q

primary hyperparathyroidism is caused by

A
  1. idiopathic
  2. parathyroid hyperplasia
  3. parathyroid adenoma
  4. parathyroid carcinoma
104
Q

osteitis fibrosa cystica is also called (why)

A

brown tumor

because its is filled with brown

105
Q

osteitis fibrosa cystica causes (appearance)

A

subperiosteal thinning

106
Q

primary hyperparathyroidism - serum Ca2+

107
Q

primary hyperparathyroidism - Pi

108
Q

primary hyperparathyroidism - ALP

109
Q

primary hyperparathyroidism - PTH

110
Q

secondary hyperparathyroidism - serum Ca2+

111
Q

secondary hyperparathyroidism - Pi

112
Q

secondary hyperparathyroidism - ALP

113
Q

secondary hyperparathyroidism - PTH

114
Q

secondary hyperparathyroidism - is often due to

A

chronic rena disease

115
Q

denosumab?

A

monoclonal antibody against RANKL

116
Q

osteomalacia - x rays

A

osteopenia and Looser zones (pseudofractures)

117
Q

rickets - x-rays

A

epiphyseal widening and metaphyseal cupping/fraying

118
Q

children with rickets - presentation

A

bow legs. bead-like costochondral junctions (rachitic rosary), craniotabes (soft skull)

119
Q

storage disease that causes osteonecrosis

A

Gausher disease

120
Q

artery of the femoral head

A
  • branch of obturator artery

medial and lateral femoral arteries

Musculoskeletal and Connective Tissue (19 decks)

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