session 7-ossification and bone disease Flashcards

1
Q

where does bone length growth occur?

A

epiphyseal (growth) plates

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2
Q

what are the differences between osteomalacia and rickets?

A

same disease but named rickets in kids and osteomalacia in adults

Children: growing bones, bone osteoid fails to calcify normally, epiphyseal plate becomes distorted due to body weight, bones deformed and fractured (vit D deficiency)

adults: bone remodelling, deficient calcification of recently formed bone, bone softens (Ca2+ or lack of vit D)

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3
Q

how is osteogenesis imperfecta caused?

A

-abnormal collagen (type 1) synthesis by osteoblasts and fibroblasts

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4
Q

what is osteogenesis imperfecta (OI)? Autosomal dominant

A

-disease characterised by bone fragility which increases the risk of fracture and deformity
-bowed bones and blue sclera
(FUN FACT: legally important-possible confusion between disease and deliberate injury)

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5
Q

what is the role of vitamin D?

A

involved in absorption of calcium and phosphate in the small intestine

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6
Q

osteomalacia is a consequence of inadequate intake of what 3 things?

A

calcium, phosphate and vit D

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7
Q

what kind of growth does achondroplasia impair?

A

endochondral bone formation=impairment of longitudinal growth
-epiphyseal growth plates are thin

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8
Q

what does lack of growth hormone cause?

A

pituitary dwarfism

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9
Q

BEFORE PUBERTY ONLY, excessive growth hormone causes what?

A

gigantism

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10
Q

in an adult why does excessive GH not cause gigantism?

A

no longer any epiphyseal plates

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11
Q

what does excessive GH cause in adults?

A

acromegaly- increase in bone width and thus thickness

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12
Q

what 2 sex hormones give rise to the pubertal growth spurt?

A

oestrogen and androgen

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13
Q

what does precocious sexual maturity do in terms of bone growth?

A

-premature closure of epiphyses and retards bone growth

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14
Q

what happens in terms of bone growth if sex hormone is deficient?

A

prolonged bone growth and tall stature

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15
Q

what can neonatal (referring to newborn) hypothyroidism cause?

A

cretinism-neurological,intellectual damage, short stature and other abnormalities

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16
Q

What is type 1 and type 2 osteoporosis?

A

Type 1-after menopause…less oestrogen so inc osteoclasts function
Type 2-both sexes after 70..Dec osteoblasts function

17
Q

What type of inheritance is achondroplasia caused by, what kind of mutation is it and what does it affect?

A
  • autosomal dominant
  • point mutation
  • FGFR3 (fibroblast growth factor receptor 3
18
Q

In achondroplasia, what is a result of a gain of function in the FGFR 3 gene?

A
  • Dec endochondral ossification
  • inhibited proliferation of chondrocytes in growth plate cartilage
  • Dec hyper trophy
  • Dec cartilage matrix production
19
Q

Describe what a person who has achondroplasia would look like.

A
  • short limbs
  • enlarged skull
  • small face and flat nose
20
Q

On an image of osteomalacia/rickets and osteoporosis, what difference would you see?

A

Osteomalacia/rickets-normal amount of bone matrix but decreased mineralisation
Osteoporosis-decreased amount of bone matrix and mineral