Musculoskeletal Flashcards
What type of mutation causes Achondroplasia?
activating mutation
What gene is implicated during Achondroplasia?
FGFR3
What is the mode of inheritance for Achondroplasia?
Autosomal Dominant
How do most mutations resulting in Achondroplasia arise?
sporadically
What does Endochondral bone formation mean?
bone is laid down on pre-existing cartilage
Which type of bones use Endochondral Ossification to grow?
Long bones
What is Intramembranous bone formation?
formation of bone w/o pre-existing collagen
Which type of bones use Intramembranous Ossification?
flat bones
What is the mode of inheritance for Osteogenesis Imperfecta?
autosomal dominant
What type of collagen is affected during Osteogenesis Imperfecta?
Type One
What cause the eyes to be blue during Osteogenesis Imperfecta?
underlying choroidal veins
What are the three common presenting symptoms of Osteogenesis Imperfecta?
Bone fractures
blue sclera
hearing loss
What process is defective during osteopetrosis?
Bone resorption
What cell is defective during Osteopetrosis?
osteoclast
What enzyme is deficient during Osteopetrosis? Leading to loss of what?
Carbonic Anhydrase II
acidic environment for bone resorption
Are bones brittle or strong during Osteopetrosis?
brittle
What are the hematological abnormalities seen during osteopetrosis?
anemia
thrombocytopenia
leukopenia
Why would osteopetrosis result in vision and hearing loss?
impingement of cranial nerves
Why could osteopetrosis present with hydrocephalus?
closure of foramen magnum
What acid/base disorder would osteopetrosis present with? Why?
metabolic acidosis
cant reabsorb bicarb out of renal tubules due to defective carbonic anhydrase
What cells are osteoclasts derived from?
monocytes
What is the definition of Rickets/Osteomalacia?
defective mineralization of osteoid
What cells produce osteoid?
osteoblasts
What are the levels of calcium during osteoporosis?
normal
What are the levels of phosphate during osteoporosis?
normal
What are the levels of ALP during osteoporosis?
normal
What are the levels of PTH during osteoporosis?
normal
What is the MOA of bisphosphonates?
induce apoptosis of osteoclasts
Does the osteoblast or osteoclast have the PTH receptor?
osteoblast
Does Pagets disease effect the entire skeleton?
no
What is the end result of Pagets disease of the bone?
thick sclerotic bone that fractures easily
What is the only abnormal lab during Pagets disease of bone?
increased alkaline phosphatase
What two drugs are used to treat Pagets Disease of Bone?
calcitonin and bisphosphonates
Increasing hat size is indicative of what disease?
PDOB
What are the two complications of Pagets Disease of Bone?
High output heart failure
Osteosarcoma
Where does osteomyelitis usually occur in children?
metaphysis
Where does osteomyelitis usually occur in adults?
epiphysis
What bacteria is the most common cause of osteomyelitis?
S. aureus
What bacteria is the most common cause of osteomyelitis in sexually active young adults?
N. gonorrhoeae
What bacteria is the most common cause of sickle cell disease?
Salmonella
What bacteria is the most common cause of IV drug users?
Pseudomonas
What bacteria is the most common cause of osteomyelitis due to dog bites?
Pasteurella
What disease are Osteomas associated with?
Gardner
What does an osteoid osteoma respond to?
Aspirin
Where does an osteoblastoma arise from?
vertebrae
How does an osteochondroma arise?
lateral projection of growth plate (metaphysis)
What is an osteoblastoma?
malignant proliferation of osteoblasts
What are the three risk factors for an Osteoblastoma?
Rb
Pagets
Radiation
Where does an osteosarcoma most often arise?
metaphysis
What are the two most common locations for an osteosarcoma to arise?
distal femur or proximal tibia
“Lifting of periosteum” is indicative of what bone cancer?
Osteosarcoma
Which bone tumor produces osteoid?
osteosarcoma
‘Soap bubble’ refers to what kind of bone tumor?
Giant cell tumor
Where in a bone does a giant cell tumor most often occur?
epiphysis
What two bones does a giant cell tumor most often occur?
distal femur or proximal tibia
What bone cancer is derived from neuroectoderm?
Ewing
Where in the bone do Ewing Sarcoma arise?
Diaphysis
‘Onion skin’ is indicative of what bone tumor?
Ewing
Small round blue cells are indicative of what type of tumor?
Ewing
What is the translocation of Ewing Sarcoma?
t(11:22)
Where do both chondroma and chondrosarcomas arise?
medulla of bone
In what two locations do chondromas usually arise?
hands and feet
In what two locations do chondrosarcomas usually arise?
pelvis and central skeleton
What is the only cancer that produces osteoblastic metastasis?
Prostate
The fluid lubricating joints is rich in what acid?
Hyaluronic acid
Does osteoarthritis effect DIP joints?
yes
Does rheumatoid effect DIP joints?
no
Which type of arthritis gets worse during the day?
Osteoarthritis
Which nodes are in the DIP joint?
Heberden
Which nodes are in the PIP joint?
Bouchard