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Flashcards in Musculoskeletal Deck (176)
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1
Q

What type of mutation causes Achondroplasia?

A

activating mutation

2
Q

What gene is implicated during Achondroplasia?

A

FGFR3

3
Q

What is the mode of inheritance for Achondroplasia?

A

Autosomal Dominant

4
Q

How do most mutations resulting in Achondroplasia arise?

A

sporadically

5
Q

What does Endochondral bone formation mean?

A

bone is laid down on pre-existing cartilage

6
Q

Which type of bones use Endochondral Ossification to grow?

A

Long bones

7
Q

What is Intramembranous bone formation?

A

formation of bone w/o pre-existing collagen

8
Q

Which type of bones use Intramembranous Ossification?

A

flat bones

9
Q

What is the mode of inheritance for Osteogenesis Imperfecta?

A

autosomal dominant

10
Q

What type of collagen is affected during Osteogenesis Imperfecta?

A

Type One

11
Q

What cause the eyes to be blue during Osteogenesis Imperfecta?

A

underlying choroidal veins

12
Q

What are the three common presenting symptoms of Osteogenesis Imperfecta?

A

Bone fractures

blue sclera

hearing loss

13
Q

What process is defective during osteopetrosis?

A

Bone resorption

14
Q

What cell is defective during Osteopetrosis?

A

osteoclast

15
Q

What enzyme is deficient during Osteopetrosis? Leading to loss of what?

A

Carbonic Anhydrase II

acidic environment for bone resorption

16
Q

Are bones brittle or strong during Osteopetrosis?

A

brittle

17
Q

What are the hematological abnormalities seen during osteopetrosis?

A

anemia

thrombocytopenia

leukopenia

18
Q

Why would osteopetrosis result in vision and hearing loss?

A

impingement of cranial nerves

19
Q

Why could osteopetrosis present with hydrocephalus?

A

closure of foramen magnum

20
Q

What acid/base disorder would osteopetrosis present with? Why?

A

metabolic acidosis

cant reabsorb bicarb out of renal tubules due to defective carbonic anhydrase

21
Q

What cells are osteoclasts derived from?

A

monocytes

22
Q

What is the definition of Rickets/Osteomalacia?

A

defective mineralization of osteoid

23
Q

What cells produce osteoid?

A

osteoblasts

24
Q

What are the levels of calcium during osteoporosis?

A

normal

25
Q

What are the levels of phosphate during osteoporosis?

A

normal

26
Q

What are the levels of ALP during osteoporosis?

A

normal

27
Q

What are the levels of PTH during osteoporosis?

A

normal

28
Q

What is the MOA of bisphosphonates?

A

induce apoptosis of osteoclasts

29
Q

Does the osteoblast or osteoclast have the PTH receptor?

A

osteoblast

30
Q

Does Pagets disease effect the entire skeleton?

A

no

31
Q

What is the end result of Pagets disease of the bone?

A

thick sclerotic bone that fractures easily

32
Q

What is the only abnormal lab during Pagets disease of bone?

A

increased alkaline phosphatase

33
Q

What two drugs are used to treat Pagets Disease of Bone?

A

calcitonin and bisphosphonates

34
Q

Increasing hat size is indicative of what disease?

A

PDOB

35
Q

What are the two complications of Pagets Disease of Bone?

A

High output heart failure

Osteosarcoma

36
Q

Where does osteomyelitis usually occur in children?

A

metaphysis

37
Q

Where does osteomyelitis usually occur in adults?

A

epiphysis

38
Q

What bacteria is the most common cause of osteomyelitis?

A

S. aureus

39
Q

What bacteria is the most common cause of osteomyelitis in sexually active young adults?

A

N. gonorrhoeae

40
Q

What bacteria is the most common cause of sickle cell disease?

A

Salmonella

41
Q

What bacteria is the most common cause of IV drug users?

A

Pseudomonas

42
Q

What bacteria is the most common cause of osteomyelitis due to dog bites?

A

Pasteurella

43
Q

What disease are Osteomas associated with?

A

Gardner

44
Q

What does an osteoid osteoma respond to?

A

Aspirin

45
Q

Where does an osteoblastoma arise from?

A

vertebrae

46
Q

How does an osteochondroma arise?

A

lateral projection of growth plate (metaphysis)

47
Q

What is an osteoblastoma?

A

malignant proliferation of osteoblasts

48
Q

What are the three risk factors for an Osteoblastoma?

A

Rb

Pagets

Radiation

49
Q

Where does an osteosarcoma most often arise?

A

metaphysis

50
Q

What are the two most common locations for an osteosarcoma to arise?

A

distal femur or proximal tibia

51
Q

“Lifting of periosteum” is indicative of what bone cancer?

A

Osteosarcoma

52
Q

Which bone tumor produces osteoid?

A

osteosarcoma

53
Q

‘Soap bubble’ refers to what kind of bone tumor?

A

Giant cell tumor

54
Q

Where in a bone does a giant cell tumor most often occur?

A

epiphysis

55
Q

What two bones does a giant cell tumor most often occur?

A

distal femur or proximal tibia

56
Q

What bone cancer is derived from neuroectoderm?

A

Ewing

57
Q

Where in the bone do Ewing Sarcoma arise?

A

Diaphysis

58
Q

‘Onion skin’ is indicative of what bone tumor?

A

Ewing

59
Q

Small round blue cells are indicative of what type of tumor?

A

Ewing

60
Q

What is the translocation of Ewing Sarcoma?

A

t(11:22)

61
Q

Where do both chondroma and chondrosarcomas arise?

A

medulla of bone

62
Q

In what two locations do chondromas usually arise?

A

hands and feet

63
Q

In what two locations do chondrosarcomas usually arise?

A

pelvis and central skeleton

64
Q

What is the only cancer that produces osteoblastic metastasis?

A

Prostate

65
Q

The fluid lubricating joints is rich in what acid?

A

Hyaluronic acid

66
Q

Does osteoarthritis effect DIP joints?

A

yes

67
Q

Does rheumatoid effect DIP joints?

A

no

68
Q

Which type of arthritis gets worse during the day?

A

Osteoarthritis

69
Q

Which nodes are in the DIP joint?

A

Heberden

70
Q

Which nodes are in the PIP joint?

A

Bouchard

71
Q

Which HLA haplotype is associated with Rheumatoid Arthritis?

A

DR4

72
Q

What type of arthritis features Pannus?

A

Rheumatoid

73
Q

What is Pannus?

A

inflammed Granulation tissue

74
Q

What is ankylosis of a joint?

A

fusion of joint

75
Q

What are Rheumatoid Nodules composed of?

A

central necrosis surrounded by activated histiocytes

76
Q

Can rheumatoid or osteoarthritis cause vascultiis?

A

rheumatoid

77
Q

What is a Baker Cyst?

A

swelling of bursa behind the knee

78
Q

In what disease is a Baker Cyst found?

A

rheumatoid

79
Q

What is rheumatoid factor?

A

IgM against the Fc of IgG

80
Q

What are the two components of synovial fluid during Rheumatoid Arthritis?

A

neutrophils and high protein

81
Q

What are the two systemic complications of Rheumatoid Arthritis?

A

anemia of chronic disease

secondary amyloidosis

82
Q

What are the four conditions of PAIR?

A

psoriasis

Ankylosing spondylitis

IBS

Reiter

83
Q

Does ankylosing spondyloarthritis more often arise in men or women?

A

men

84
Q

What happens to the vertebrae during ankylosing spondyloarthritis?

A

fusion

85
Q

What are the two extra-articular manifestations of ankylosing spondyloarthritis?

A

uveitis

aortitis

86
Q

What bug causes Reactive Arthritis?

A

chlamydia trachomatis

87
Q

Infection of which organ system can lead to reactive arthritis?

A

GI

88
Q

Which joints does psoriatic arthritis effect?

A

DIP of hand and foot

89
Q

Which joint is most often affected during Infectious Arthritis?

A

Knee

90
Q

Which two bugs are known to cause infectious arthritis?

A

Neisseria Gonorrhoeae

S. aureus

91
Q

What is the mode of inheritance of Lesch-Nyhan?

A

X-linked recessive

92
Q

What are two common causes that may precipitate a gout flare?

A

alcohol or meat

93
Q

What is the shape of gout needles in joints?

A

needle

94
Q

Are gout crystals negative of positively birefringent under polarized light?

A

negatively

95
Q

What composes the crystals seen during Pseudogout?

A

Calcium PyroPhosphate Dihydrate

96
Q

What is the shape of Calcium PyroPhosphate Dihydrate?

A

rhomboid

97
Q

Are CalciumPyroPhosphate Dihydrate Crystals birefringent?

A

yes

98
Q

A carcinoma cancer can be associated with what skin and muscle disorder? Especially where?

A

Dermatomyositis

stomach

99
Q

In what two locations could a patient develop a rash during Dermatomyositis?

A

upper eyelid and malar rash

100
Q

What are the three locations of papules during dermatomyositis?

A

elbows

knees

knuckles

101
Q

Which protein marker is present during dermatomyositis?

A

increased creatine kinase

102
Q

Which two antibodies are present during dermatomyositis?

A

ANA and anti-Jo1

103
Q

What is inflammed during dermatomyositis?

A

perimysium

104
Q

What cell invades the perimysium during dermatomyositis?

A

CD4

105
Q

What is the difference between polymyositis and dermatomyositis?

A

polymyositis doesnt involve skin

106
Q

What is inflammed during polymyositis?

A

endomysium

107
Q

Which cell invades the endomysium during Polymyositis?

A

CD8

108
Q

What is the function of dystrophin?

A

Anchoring the muscle fiber to extracellular cytoskeleton

109
Q

What happens to dystrophin during DMD?

A

deletion

110
Q

Is creatine kinase elevated or decreased during DMD?

A

elevated

111
Q

What are the two most common causes of death during DMD?

A

cardiac or respiratory failure

112
Q

Are antibodies directed at the pre or post synaptic acetylcholine receptor durign Myasthenia Gravis?

A

post

113
Q

When does myasthenia gravis get worse?

A

with use of muscles

114
Q

When does myasthenia gravis get better?

A

with rest

115
Q

What growth can lead to Myasthenia Gravis?

A

Thymoma

116
Q

Are Lambert-Eaton antibodies against the pre or post synaptic calcium channel?

A

pre

117
Q

Which groups of muscles are weakened during dermatomyositis?

A

bilateral proximal muscle weakness

118
Q

What is the firing of the presynaptic calcium channel required for during Lambert-Eaton Syndrome?

A

acetylcholine release

119
Q

Which muscle group is most often effected during MG? Manifests as?

A

eye

diplopia or ptosis

120
Q

Are the eyes effected during Lambert-Eaton Syndrome?

A

no

121
Q

Which muscles are usually effected during Lambert-Eaton Myasthenia Gravis?

A

proximal

122
Q

What disease are rhabdomyomas associated with?

A

Tuberous Sclerosis

123
Q

What organ is effected by Rhabdomyomas?

A

heart

124
Q

Rhabdomyosarcoma stains positive for which protein marker?

A

Desmin

125
Q

Why could osteopetrosis result in hydrocephalus?

A

thickening of foramen magnum

126
Q

What is the treatment for osteopetrosis?

A

bone marrow transplant

127
Q

What is rachitic rosary?

A

deposition of osteoid at costochondral junction

128
Q

In what situations is rachitic rosary present?

A

Rickets

129
Q

What are the levels of phosphate during osteomalacia?

A

decreased

130
Q

What are the levels of calcium during osteomalacia?

A

decreased

131
Q

What are the levels of PTH during osteomalacia?

A

increased

132
Q

What are the levels of ALP during osteomalacia?

A

increased

133
Q

Will osteoblast or osteoclast activity result in increased levels of ALP?

A

osteoblast

134
Q

Which class of drugs promote osteoporosis?

A

glucocorticoids

135
Q

Is the PTH receptor on the osteoblast or osteoclast?

A

osteoblast

136
Q

What type of bone pattern is seen during Pagets Disease?

A

mosaic

137
Q

What type of bone is laid down during Pagets?

A

lamellar

138
Q

Why could Pagets DIsease of bone result in hearing loss?

A

impingement of cranial nerves

139
Q

What are the two complications of Pagets Disease of Bone?

A

high output cardiac failure

Osteosarcoma

140
Q

What is osteosarcoma?

A

malignant proliferation of osteoblasts

141
Q

What is dactylitis?

A

vaso-occlusive crisis within the bones of the hands and feet

142
Q

What class of drugs can cause Aseptic Necrosis of bones?

A

steroids

143
Q

Where would Caisson Disease produce aseptic necrosis?

A

bones

144
Q

Where does an osteoma most often arise?

A

surface of facial bones

145
Q

What population does an osteoid osteoma arise in? Males or females?

A

young (under 25)

males

146
Q

Where does an osteoid osteoma often arise?

A

diaphysis of long bone

147
Q

What is the difference in size between an osteoid osteoma and an osteoblastoma?

A

osteoid osteoma = 2cm

148
Q

Does an osteoblastoma respond to aspirin?

A

no

149
Q

Is an osteochondroma continuous with the marrow space?

A

yes

150
Q

What can the overlying cartilage of an osteochondroma transform into?

A

osteosarcoma

151
Q

In what two populations does an osteosarcoma most often arise?

A

teenagers and elderly

152
Q

Radiation exposure increases the liklihood of what bone cancer?

A

osteosarcoma

153
Q

What is the risk factor for osteosarcoma in the elderly?

A

Pagets disease of bone

154
Q

What is the histological appearance of osteosarcoma?

A

pleomorphic cells that produce osteoid

155
Q

Which bone tumor can present with fever?

A

Ewing’s

156
Q

What specific structure becomes inflammed during Rheumatoid arthritis?

A

synovium

157
Q

What are two things rheumatoid factor is a marker for?

A

tissue damage and disease activity

158
Q

What does seronegative spondyloarthritis mean?

A

seronegative = lacks rheumatoid factor

159
Q

What two joints can be involved during Ankylosing Spondylitis?

A

SI joints and vertebrae

160
Q

What is AMP broken down into?

A

hypoxanthine

161
Q

What is GMP broken down into?

A

guanine

162
Q

Deposition of uric acid crystals in a joint triggers which immune cells activity?

A

neutrophils

163
Q

What color are uric acid crystals under nonpolarized light?

A

yellow

164
Q

What atrophies during Dermatomyositis?

A

perifasicular atrophy

165
Q

What is the treatment of dermatomyositis?

A

corticosteroids

166
Q

What weakens first during DMD, proximal or distal muscles?

A

proximal

167
Q

Does Eaton Lambert get better with use?

A

yes

168
Q

Lipoblast belongs to what cancer?

A

Liposarcoma

169
Q

What is the definition for an osteoid osteoma?

A

benign tumor of osteoblasts surrounded by rim of reactive bone

170
Q

What can an osteochondroma sometimes transform into?

A

chondrosarcoma

171
Q

What type of bone formation is impaired during Achondroplasia?

A

endochondral

172
Q

What bug causes osteomyelitis in diabetics?

A

Pseudomonas

173
Q

What is an Osteosarcoma?

A

malignant proliferation of osteoblasts

174
Q

Does osteoarthritis affect the PIP?

A

yes

175
Q

What type of necrosis during osteomyelitis?

A

liquefactive

176
Q

What surrounds the tophi of chronic gout?

A

fibrosis