[PATH] Bones, Joints and Soft Tissue (Part 1 BONE) [Martin] Flashcards
This image depicts what type of process?
Endochondral ossification
(in a calcaneus)
Root word association:
Osteoporosis =
Osteomalacia =
Osteopetrosis =
Osteogenesis imperfecta =
Osteitis deformans =
Osteodystrophy =
Osteoporosis = Porous; thinned out bone
Osteomalacia = Weakened, soft bone
Osteopetrosis = Peter=rock, stone bone
Osteogenesis imperfecta = Imperfect origin of bone
Osteitis deformans = Deforming bone-itis
Osteodystrophy = Bad growing bone
What are the (3) components of bone matrix?
Type I collagen
Osteoid
Mineral component
Hardness of bones is due to?
Hydroxyapatite
What are the (2) histologic forms of bone?
Woven
Lamellar
Characteristics of woven bone?
Disorganized
Produced rapidly ; fetal development and fracture repair
Characteristics of lamellar bone?
Slow production
Parallel collagen
Strong
Function of osteoblasts
Synthesize, transport and assemble matrix
*Regulates mineralization
Function of osteocytes?
Inactivate osteoblasts
Control calcium and phosphate levels
What are osteoclasts?
Function?
Multinucleated macrophages derived from circulating monocytes
Bone resorption
What type of bone is associated with:
Endochondral ossification?
Intramembranous ossification?
Endochondral ossification = Long bones
Intramembranous ossification = Flat bones
When is peak bone mass achieved?
Early adulthood
RANK
Where is it expressed?
Function?
Where is it expressed = Osteoclast precursors
Function = Breakdown
RANK-L
Where is it expressed?
Function?
Where is it expressed = Osteoblasts and marrow stromal cells
Function = Breakdown
OPG
Where is it expressed?
Function?
Where is it expressed = “Decoy” receptor made by osteoblasts that can bind RANKL and prevent it’s interaction with RANK
Function = Build
A product produced by osteocyte inhibits the WNT/Beta-catenin pathway. What is it?
Sclerostin
What are the common building circulating hormones/factors?
Estrogen
Testosterone
Vit D
What are the common breakdown circulating hormones/factors?
PTH
IL-1
Glucocorticoids
What is M-CSF?
Monocyte colony stimulating factor
Function of M-CSF?
M-CSF receptor on osteoclast precursors STIMULATES tyrosine kinase cascade that is crucial for generation of osteoclasts
What are the (3) primary developmental disorders of bone?
Osteogenesis imperfecta
Osteopetrosis
Mucopolysaccharidoses
What is commonly associated with developmental disorders of bone?
Transcription factor defects: specifically homeobox genes
Define:
Dysplasia
Global disorganization of bone &/or cartilage
Define:
Syndactyly/Craniosynostosis
Abnormal fusion of bones
What are wormian bones?
Extra bones within cranial sutures
What is an excellent way to determine the origin of a dwarfism pathology?
Can you give examples?
Look at the chest cavity!
Normal trunk length with achondroplasia
Small chest cavity with thanatophoric dysplasia
Achondroplasia
Gene mutation?
Presentation?
Mortality?
Gene mutation = Autosomal dominant FGFR3 gain of function
Presentation = Short extremities, normal trunk length, enlarged head, bluging forehead, depression root of nose
Mortality = NO change in longevity, intelligence or reproductive status
Thanatophoric dysplasia
Gene mutation?
Presentation?
Mortality?
Gene mutation = FGFR3 gain of function
Presentation = Small chest cavity, bell-shaped abdomen, micromelic shortening of limbs
Mortality = Die at birth or soon after
Osteogenesis imperfecta:
Which type has the best prognosis?
Worst?
Best = Type I
Worst = Type 2
Prognosis of Type II osteogenesis imperfecta?
Uniformly fatal in utero
Buzz word association for osteogenesis imperfecta type 2?
“Accordion-like” shortening of the limbs
What are the major clinical features of osteogenesis imperfecta?
Blue sclera
Skeletal fragility
Dentinogenesis imperfecta (small fucked teeth)
Hearing impairment
Joint laxity