bone soft tissue

Question 1

achondroplasia hot terms

Answer 1

activating mutation of FGFR3 constituitively inhibiting chondrocyte differentiation. dwarfism with macrocephaly. failure of epiphysial cartilage formation. most common form of dwarfism. AD trait.

Question 2

what is the mental status and life span of achondroplasia?

Answer 2

normal.

Question 3

what does Vit C deficiency cause? how does this affect the bones?

Answer 3

scurvy. it inhibits the function of osteoblasts and causes abnormal collagen formation. wound healing and bone growth are impaired. there is also widespread capillary bleeding.

Question 4

scoliosis?

Answer 4

abnormal lateral curvature of the spine that usually affects adolescent girls.

Question 5

kyphosis

Answer 5

abnormal anteroposterior curvature of the spine.

Question 6

how to treat scoliosis

Answer 6

putting braces on the back to appropriately apply pressure to the spine, moving it back into proper alignment.

Question 7

osteochondroma hot terms

Answer 7

defect of skeletal growth from the ring of ranvier in the growth plate. cartilage-capped, bony, stalked osteochondroma. surrounded by a fibrous perichondrial membrane.

Question 8

hereditary multiple osteochondromatosis

Answer 8

most common inherited AD trait MSK disorder. loss of EXT1/2 gene function. dwarfism can result in severe cases.

Question 9

hemihypertrophy etiology and risks

Answer 9

where one growth plate is stimulated excessively. one limb will become longer than the other. children are at increased risk for neoplasm.

Question 10

osteoporosis hot terms

Answer 10

abnormally dense bone. chalk-like and brittle. marble bone or albers-schonberg is rare inherited disease of abnormally dense bone. block-like, radio dense bone.

Question 11

who gets the autosomal dominant form of osteopetrosis and who gets the AR? what is the difference in severity?

Answer 11

adults get the AD, children get the recessive. the childhood form is more severe.

Question 12

what is the function of the gene for the AD osteopetrosis and the AR?

Answer 12

AD: osteoclast proton pump.
AR: carbonic anhydrase II.

Question 13

why is carbonic anhydrase needed to lay down bone?

Answer 13

it isn’t. but it is required for osteoclasts to remodel bone. they need an acidic environment to elevate the calcium/

Question 14

what happens to hematopoiesis in osteopetrosis?

Answer 14

there is replacement of the marrow cavity with osteoclasts and extensive fibrosis. can cause anemia or pancytopenia. there will be extra medullary hematopoiesis

Question 15

osteogenesis imperfect hot terms

Answer 15

defect in collagen type I. type I OI is the less severe type. AD trait multiple fractures, blue sclera, hearing abnormalities. thin, delicate, abnormally curved bones. decreased cortical thickness and trabecular bone. misshapen blueish-yellow teeth.

Question 16

stature in OI

Answer 16

unaffected.

Question 17

what happens as a child with OI gets older.

Answer 17

the fractures become farther apart and less severe.

Question 18

what causes the blue sclera in OI

Answer 18

the underlying choroidal veins are apparent.

Question 19

type II OI

Answer 19

lethal. perinatal, AD inheritance.

Question 20

type III OI

Answer 20

one of the most devesatiting, with growth abnormalities deformation, AD. blue sclera at birth, but white shorty after.

Question 21

type IV OI

Answer 21

same as I, but with white sclera.

Question 22

collier disease ( multiple endochondromatosis)

Answer 22

asymmetric, multiple cartilaginous tumors that lead to bony deformities. tumor-like masses of abnormally arranged cartilage. tumors present in the metaphyses. as growth continues the tumors settle in the diaphysis. PTHR1 gene. PTH is involved in this syndrome.

Question 23

what are the phases of bone reparation?

Answer 23

inflammatory, reparative and remodeling

Question 24

characteristics of reactive bone formation?

Answer 24

suburst pattern or onion-skin patterning. can be either woven or lamellar. this is intramembranous bone because it is derived from the periosteum or the endosteal tissue.

Question 25

heterotropic ossification

Answer 25

bone formation in extraskelatal sites. not associated with any metabolic disorder. genetic, post traumatic, neurogenetic, and as distinct reactive lesions (myositis ossificans.

Question 26

metastatic calcification

Answer 26

occurs with hypercalcemia or hyperphosphatemia and predisposes other tissues to deposition.

Question 27

dystrophic calcification

Answer 27

abnormal or damaged tissues

Question 28

myositis ossificans

Answer 28

dystophic calcification of muscle due to trauma, occurs in young persons and often mimics cancer. usually of the lower limbs. exhibits the zonation effect, in which there is peripheral maturity but central immaturity of the formed bone. this clearly indicates a reactive process

Question 29

langerhans cell histiocytosis

Answer 29

general term for three distinct disorders 1.) eosinophilic granuloma, 2.) hand-schuller christianson disease. 3.) letterer-siwe disease. the histological appearance of all three is identical. collections of large, eosiniophilic phagocytes with convoluted or grooved nuclei. there are birbeck granules. punched out lytic bone lesions within the flat bones (skull) and there are lesions within the metaphyses and diaphysis, periosteal callus with no reactive bone/

Question 30

triad of hand-schuller christianson

Answer 30

lytic bone lesions (skull, etc), diabetes insipidus, exophthalmos. floating teeth on XR due to granulomatous inflammation and resorption of the jaw bone.

Question 31

letterer-siwe

Answer 31

fail to thrive in children, cachetic, hepatosplenomegaly, LAD, anemia, leukopenia and thrombocytopenia. scattered seborrheic skin lesions.

Question 32

what is the main characteristic that distinguishes osteomalacia from osteoporosis

Answer 32

milkman looser syndrome or pseudofractures. they are exaggerations of osteoid seams.

Question 33

clinical features of osteomalacia

Answer 33

nonspecific muscle aches and pains, diffuse. poorly localized bone pain and tenderness. spine, pelvis and proximal extremities.

Question 34

rickets clinical features

Answer 34

apathetic, irritable, short-attention spans, buddha posture, flat skull with prominent frontal bones. rachitic rosary chest. is a grossly beaded appearance of the costral chondral junctions. outward curvature of the sternum. overall musculature is weak and represents a potbelly. short limbs, bowing of the legs and forearms. 1

Question 35

osteitis fibrosa

Answer 35

histological changes of hyperparathyroidism, pagets disease, and even accelerated osteoporosis.

Question 36

renal osteodystrophy

Answer 36

in chronic renal failure there is a decreased GFR, decreased clearance of phosphate. this drives the calcium concentration down. combined with tubular injury there is a decreased Vit D output and thus decreased calcium further. thus the PT undergoes secondary hyperPTism and can even undergo tertiary.