Musculoskeletal Flashcards
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
What are the levels of phosphate during osteoporosis?
normal
26
What are the levels of ALP during osteoporosis?
normal
27
What are the levels of PTH during osteoporosis?
normal
28
What is the MOA of bisphosphonates?
induce apoptosis of osteoclasts
29
Does the osteoblast or osteoclast have the PTH receptor?
osteoblast
30
Does Pagets disease effect the entire skeleton?
no
31
What is the end result of Pagets disease of the bone?
thick sclerotic bone that fractures easily
32
What is the only abnormal lab during Pagets disease of bone?
increased alkaline phosphatase
33
What two drugs are used to treat Pagets Disease of Bone?
calcitonin and bisphosphonates
34
Increasing hat size is indicative of what disease?
PDOB
35
What are the two complications of Pagets Disease of Bone?
High output heart failure
Osteosarcoma
36
Where does osteomyelitis usually occur in children?
metaphysis
37
Where does osteomyelitis usually occur in adults?
epiphysis
38
What bacteria is the most common cause of osteomyelitis?
S. aureus
39
What bacteria is the most common cause of osteomyelitis in sexually active young adults?
N. gonorrhoeae
40
What bacteria is the most common cause of sickle cell disease?
Salmonella
41
What bacteria is the most common cause of IV drug users?
Pseudomonas
42
What bacteria is the most common cause of osteomyelitis due to dog bites?
Pasteurella
43
What disease are Osteomas associated with?
Gardner
44
What does an osteoid osteoma respond to?
Aspirin
45
Where does an osteoblastoma arise from?
vertebrae
46
How does an osteochondroma arise?
lateral projection of growth plate (metaphysis)
47
What is an osteoblastoma?
malignant proliferation of osteoblasts
48
What are the three risk factors for an Osteoblastoma?
Rb
Pagets
Radiation
49
Where does an osteosarcoma most often arise?
metaphysis
50
What are the two most common locations for an osteosarcoma to arise?
distal femur or proximal tibia
51
"Lifting of periosteum" is indicative of what bone cancer?
Osteosarcoma
52
Which bone tumor produces osteoid?
osteosarcoma
53
'Soap bubble' refers to what kind of bone tumor?
Giant cell tumor
54
Where in a bone does a giant cell tumor most often occur?
epiphysis
55
What two bones does a giant cell tumor most often occur?
distal femur or proximal tibia
56
What bone cancer is derived from neuroectoderm?
Ewing
57
Where in the bone do Ewing Sarcoma arise?
Diaphysis
58
'Onion skin' is indicative of what bone tumor?
Ewing
59
Small round blue cells are indicative of what type of tumor?
Ewing
60
What is the translocation of Ewing Sarcoma?
t(11:22)
61
Where do both chondroma and chondrosarcomas arise?
medulla of bone
62
In what two locations do chondromas usually arise?
hands and feet
63
In what two locations do chondrosarcomas usually arise?
pelvis and central skeleton
64
What is the only cancer that produces osteoblastic metastasis?
Prostate
65
The fluid lubricating joints is rich in what acid?
Hyaluronic acid
66
Does osteoarthritis effect DIP joints?
yes
67
Does rheumatoid effect DIP joints?
no
68
Which type of arthritis gets worse during the day?
Osteoarthritis
69
Which nodes are in the DIP joint?
Heberden
70
Which nodes are in the PIP joint?
Bouchard
71
Which HLA haplotype is associated with Rheumatoid Arthritis?
DR4
72
What type of arthritis features Pannus?
Rheumatoid
73
What is Pannus?
inflammed Granulation tissue
74
What is ankylosis of a joint?
fusion of joint
75
What are Rheumatoid Nodules composed of?
central necrosis surrounded by activated histiocytes
76
Can rheumatoid or osteoarthritis cause vascultiis?
rheumatoid
77
What is a Baker Cyst?
swelling of bursa behind the knee
78
In what disease is a Baker Cyst found?
rheumatoid
79
What is rheumatoid factor?
IgM against the Fc of IgG
80
What are the two components of synovial fluid during Rheumatoid Arthritis?
neutrophils and high protein
81
What are the two systemic complications of Rheumatoid Arthritis?
anemia of chronic disease
secondary amyloidosis
82
What are the four conditions of PAIR?
psoriasis
Ankylosing spondylitis
IBS
Reiter
83
Does ankylosing spondyloarthritis more often arise in men or women?
men
84
What happens to the vertebrae during ankylosing spondyloarthritis?
fusion
85
What are the two extra-articular manifestations of ankylosing spondyloarthritis?
uveitis
aortitis
86
What bug causes Reactive Arthritis?
chlamydia trachomatis
87
Infection of which organ system can lead to reactive arthritis?
GI
88
Which joints does psoriatic arthritis effect?
DIP of hand and foot
89
Which joint is most often affected during Infectious Arthritis?
Knee
90
Which two bugs are known to cause infectious arthritis?
Neisseria Gonorrhoeae
S. aureus
91
What is the mode of inheritance of Lesch-Nyhan?
X-linked recessive
92
What are two common causes that may precipitate a gout flare?
alcohol or meat
93
What is the shape of gout needles in joints?
needle
94
Are gout crystals negative of positively birefringent under polarized light?
negatively
95
What composes the crystals seen during Pseudogout?
Calcium PyroPhosphate Dihydrate
96
What is the shape of Calcium PyroPhosphate Dihydrate?
rhomboid
97
Are CalciumPyroPhosphate Dihydrate Crystals birefringent?
yes
98
A carcinoma cancer can be associated with what skin and muscle disorder? Especially where?
Dermatomyositis
stomach
99
In what two locations could a patient develop a rash during Dermatomyositis?
upper eyelid and malar rash
100
What are the three locations of papules during dermatomyositis?
elbows
knees
knuckles
101
Which protein marker is present during dermatomyositis?
increased creatine kinase
102
Which two antibodies are present during dermatomyositis?
ANA and anti-Jo1
103
What is inflammed during dermatomyositis?
perimysium
104
What cell invades the perimysium during dermatomyositis?
CD4
105
What is the difference between polymyositis and dermatomyositis?
polymyositis doesnt involve skin
106
What is inflammed during polymyositis?
endomysium
107
Which cell invades the endomysium during Polymyositis?
CD8
108
What is the function of dystrophin?
Anchoring the muscle fiber to extracellular cytoskeleton
109
What happens to dystrophin during DMD?
deletion
110
Is creatine kinase elevated or decreased during DMD?
elevated
111
What are the two most common causes of death during DMD?
cardiac or respiratory failure
112
Are antibodies directed at the pre or post synaptic acetylcholine receptor durign Myasthenia Gravis?
post
113
When does myasthenia gravis get worse?
with use of muscles
114
When does myasthenia gravis get better?
with rest
115
What growth can lead to Myasthenia Gravis?
Thymoma
116
Are Lambert-Eaton antibodies against the pre or post synaptic calcium channel?
pre
117
Which groups of muscles are weakened during dermatomyositis?
bilateral proximal muscle weakness
118
What is the firing of the presynaptic calcium channel required for during Lambert-Eaton Syndrome?
acetylcholine release
119
Which muscle group is most often effected during MG? Manifests as?
eye
diplopia or ptosis
120
Are the eyes effected during Lambert-Eaton Syndrome?
no
121
Which muscles are usually effected during Lambert-Eaton Myasthenia Gravis?
proximal
122
What disease are rhabdomyomas associated with?
Tuberous Sclerosis
123
What organ is effected by Rhabdomyomas?
heart
124
Rhabdomyosarcoma stains positive for which protein marker?
Desmin
125
Why could osteopetrosis result in hydrocephalus?
thickening of foramen magnum
126
What is the treatment for osteopetrosis?
bone marrow transplant
127
What is rachitic rosary?
deposition of osteoid at costochondral junction
128
In what situations is rachitic rosary present?
Rickets
129
What are the levels of phosphate during osteomalacia?
decreased
130
What are the levels of calcium during osteomalacia?
decreased
131
What are the levels of PTH during osteomalacia?
increased
132
What are the levels of ALP during osteomalacia?
increased
133
Will osteoblast or osteoclast activity result in increased levels of ALP?
osteoblast
134
Which class of drugs promote osteoporosis?
glucocorticoids
135
Is the PTH receptor on the osteoblast or osteoclast?
osteoblast
136
What type of bone pattern is seen during Pagets Disease?
mosaic
137
What type of bone is laid down during Pagets?
lamellar
138
Why could Pagets DIsease of bone result in hearing loss?
impingement of cranial nerves
139
What are the two complications of Pagets Disease of Bone?
high output cardiac failure
Osteosarcoma
140
What is osteosarcoma?
malignant proliferation of osteoblasts
141
What is dactylitis?
vaso-occlusive crisis within the bones of the hands and feet
142
What class of drugs can cause Aseptic Necrosis of bones?
steroids
143
Where would Caisson Disease produce aseptic necrosis?
bones
144
Where does an osteoma most often arise?
surface of facial bones
145
What population does an osteoid osteoma arise in? Males or females?
young (under 25)
males
146
Where does an osteoid osteoma often arise?
diaphysis of long bone
147
What is the difference in size between an osteoid osteoma and an osteoblastoma?
osteoid osteoma = 2cm
148
Does an osteoblastoma respond to aspirin?
no
149
Is an osteochondroma continuous with the marrow space?
yes
150
What can the overlying cartilage of an osteochondroma transform into?
osteosarcoma
151
In what two populations does an osteosarcoma most often arise?
teenagers and elderly
152
Radiation exposure increases the liklihood of what bone cancer?
osteosarcoma
153
What is the risk factor for osteosarcoma in the elderly?
Pagets disease of bone
154
What is the histological appearance of osteosarcoma?
pleomorphic cells that produce osteoid
155
Which bone tumor can present with fever?
Ewing's
156
What specific structure becomes inflammed during Rheumatoid arthritis?
synovium
157
What are two things rheumatoid factor is a marker for?
tissue damage and disease activity
158
What does seronegative spondyloarthritis mean?
seronegative = lacks rheumatoid factor
159
What two joints can be involved during Ankylosing Spondylitis?
SI joints and vertebrae
160
What is AMP broken down into?
hypoxanthine
161
What is GMP broken down into?
guanine
162
Deposition of uric acid crystals in a joint triggers which immune cells activity?
neutrophils
163
What color are uric acid crystals under nonpolarized light?
yellow
164
What atrophies during Dermatomyositis?
perifasicular atrophy
165
What is the treatment of dermatomyositis?
corticosteroids
166
What weakens first during DMD, proximal or distal muscles?
proximal
167
Does Eaton Lambert get better with use?
yes
168
Lipoblast belongs to what cancer?
Liposarcoma
169
What is the definition for an osteoid osteoma?
benign tumor of osteoblasts surrounded by rim of reactive bone
170
What can an osteochondroma sometimes transform into?
chondrosarcoma
171
What type of bone formation is impaired during Achondroplasia?
endochondral
172
What bug causes osteomyelitis in diabetics?
Pseudomonas
173
What is an Osteosarcoma?
malignant proliferation of osteoblasts
174
Does osteoarthritis affect the PIP?
yes
175
What type of necrosis during osteomyelitis?
liquefactive
176
What surrounds the tophi of chronic gout?
fibrosis
