Bone maturation

Question 1

process issues lead to disease

Answer 1

recipe, ingredient, oven, cleanip

Question 2

recipe

Answer 2

correct ingredients, assembly issue

Question 3

ingredient

Answer 3

not available, poor quality, wrong quanitity

Question 4

oven

Answer 4

environment not ideal for formation

Question 5

cleanup

Answer 5

disposal or remodel issue

Question 6

recipe disease

Answer 6

acondroplasia

Question 7

acondroplasia path

Answer 7

most common dwarfism, AD, FGFR3 point mutation, chrome 4 (guan>adenosine), 90% new, paternal age

Question 8

acondroplasia clincal

Answer 8

midface hypoplasia, frontal bossing, rizoment limb shortening, normal torso, hypotonia, hydrocephalus, resp problems, genu varum

Question 9

FGFR3 mutation

Answer 9

normal gene is growth break in cartilage, mutation is MORE active, less growth where cartilage is- long bone, pedicles, skull

Question 10

ingredient disease

Answer 10

osteogenic imperfecta

Question 11

OI path

Answer 11

many Dif point mutations in T1 collagen> Dif clinical presentations, bone fragility. Mutation at amino end is less severe

Question 12

collagen

Answer 12

CT, 3 chain bread, 1 is skin and bone, combine at carboxyl end

Question 13

mildest OI

Answer 13

no type 1 gene- 50% less but all normal

Question 14

OI clinical

Answer 14

blue sclera, dental, hearing, short, fractures (less after puberty)

Question 15

treat OI

Answer 15

brace, surgery, bisphosphonates, GH, BMT, gene therapy

Question 16

oven issue disease

Answer 16

blounts (genu varun)

Question 17

blounts path

Answer 17

decreased ossification on medial tibial physics, decreased growth, internal tibial rotation, Increased pressure, decreased growth, only occurs with weight bearing

Question 18

blounts EPI

Answer 18

obese, male, AA

Question 19

blounts histo

Answer 19

zone of resting cartilage is hypertrophic, acellular fibrocartilage, abnormal capillaries

Question 20

blounts treatment

Answer 20

osteotomy- early is cure

Question 21

clean[ disease

Answer 21

morquios- mocropolysaccharidoses

Question 22

micropolysach.

Answer 22

no lysosomal enzymes to breakdown GAGs, buildup in skin and urine. tissue thickening, decreased cell/organ function

Question 23

morquios path

Answer 23

keratin sulfate buildup in cornea/cartilage, two enzymes (IVA/IVB galact., A is worse

Question 24

morquios clinical

Answer 24

skeletal dysplasia, normal face, pulm issues, genu valium, arthritis

Question 25

morq. treat

Answer 25

cervivcal surgery, osteotomy, joint replacement