Exam 1 Flashcards

1
Q

What is Dysostosis?

A

Developmental anomaly of bone

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2
Q

What are homeobox genes?

A

Groups of genes, encode for structural development during embryogenesis

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3
Q

What is dysplasia

A

Mutations interfere with growth or homeostasis (dwarfism)

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4
Q

What is syndactyly

A

The fusion of digits from malformation

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5
Q

What is osteogenesis

A

Bone disorder with mutations to type 1 collagen

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6
Q

Osteogenesis imperfecta what does it do?

A

Premature bone breakdown, Alpha 1,2 chains are messed up. Autosomal dominant

Bones, eyes, teeth, inner ear bones, skin joints

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7
Q

Which type of osteogenesis imperfecta kills in utero

A

Type 2

Type 1- normal lifespan

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8
Q

Symptoms of osteogenesis imperfecta

A

Extremity bowing, scoliosis, dislocations, ligamentous laxity, hearing loss, short stature,

BLUE SCLERA

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9
Q

What disease is associated with Zebra Stripe Sign

A

Osteogenesis imperfecta

Children with it have be treated with supplements which give the appearance of zebra stripes in the bones

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10
Q

What are the 3 most common forms of dwarfism?

A

Achondroplasia
Osteogenesis imperfecta
Turner Syndrome

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11
Q

What disease is associated with FGFR3

A

Achondroplasia

Mutated Fibroblast Growth Factor Receptor

75% are spontaneous

Rest are inherited, autosomal dominant

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12
Q

Symptoms of achondroplasia

A

Frontal bossing of the skull

Bullet shaped vertebral bodies

Brain stem compression from small foramen magnum

Spinal canal raduclopathy in lumbars

Trident hand

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13
Q

What is thanatophoric dwarfism

A

Extremely small thorax, and short long bones

Rare

Fatal results in still births

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14
Q

Osteopetrosis is known as

A

Marble bone disease

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15
Q

What is osteopetrosis

A

Osteoclasts- are downregulated

Results in stone like bone increase in fractures

Recurrent infections

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16
Q

What is the treatment of osteopetrosis

A

Decrease calcium intake

Stem cell replacement

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17
Q

What is osteoporosis

A

Impacts trabecular bone

Can thin the cortex in advanced cases

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18
Q

Osteoporosis is a severe form of???

A

Osteopenia

Decrease in bone mass and increase in porosity

T-score must be 2.5 SD away from normal

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19
Q

What is pager disease

A

Excessive bone formation
Greater bone mass but its weak
Sclerotic (burnout) phase
Leaves a “shaggy” appearance

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20
Q

How to diagnose pages disease?

A

Increase in alkaline phosphates in serum which is a by product of osteoblast activity

Can have a mosaic pattern aka “jigsaw puzzle” look

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21
Q

What causes pagets?

A

Its idiopathic, some PARAMYXOVIRIDAE antigens

80% of cases are asymptomatic

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22
Q

Where is pagets disease most common symptom?

A

Neck and back pain

23
Q

What is the ivory vertebra sign

A

Indication of

  1. Paget disease
  2. Metastatic cancer (prostate)
  3. Lymphoma
24
Q

Where is mc site of paget disease

A

Axial skeleton/femur 80%

Most commonly diagnosed at 70yrs old

Males 2x more likely

25
Q

What is treatment of paget disease

A

Biphosphates

Which are intended to slow lyric phase

26
Q

What is a result of vitamin D deficiency

A

Undermineralized bony matrix

27
Q

What are the two most common forms of vitamin D deficiency

A

Rickets- found in children, severe form

Osteomalacia- found in adults, normally mild form, can mimic osteoporosis

Get 90% of vitamin D from sun

28
Q

What is primary hyperparathryoidism

A

MC from an adenoma
Increase in osteoblast activity
Renal tube of resorption of Ca

29
Q

What is secondary hyperparathryoidism

A

Results in renal failure, hypocalcemia, and increase in PTH

30
Q

What is the most common nonmalignant cause of hypercalcemia

A

Secondary hyperparathryoidism

31
Q

Hyperparathryoidism mc affects ______________

A

Women, 50% are asymptomatic

32
Q

What can cause a “brown tumor”

A

Hyperparathryoidism , bone is replaced by loose connective tissue

33
Q

Symptoms of hyperparathryoidism

A

Kidney stone MC, peptic ulcers, depression, long bone bowing,brain fog, short term memory loss

34
Q

What is the treatment of hyperparathryoidism

A

Drinking water and physic activity

Avoidance of diuretics

Is reversible with normalization of PTH levels

35
Q

Osteitis fibrosis cystica is a symptom of advanced stages of ___________________

A

Hyperparathryoidism , skeleton takes on a cystic appearance

36
Q

What is a closed fracture

A

Intact overlying tissue

37
Q

Compound fracture

A

Skin is ruptured, INFECTION risk

38
Q

Comminuted fracture

A

Fragmented/splintered break

39
Q

Displaced fracture

A

Distal segment is malaligned

40
Q

What is a pathological fracture

A

Is at the site of any disease

Ex. Osteogenesis imperfecta , osteoporosis, tumor

41
Q

What’s a stress fracture

A

Microfractures, develop slowly over time from repetitive use

42
Q

What is woven bone?

A

Fracture healing using chondroblasts 2-3 weeks after break

43
Q

What is endochondral ossification

A

Have a bony callus 6-8 weeks after break, continual remodeling

44
Q

What delays healing of fractures

A
Nonunion- due to large callus
Communition- resort fragments
Inadequate immobilization- disrupts callus
Infection-MC with compound
Nutrition deficiencies
Advanced age
45
Q

Osteonecrosis occurs MC where?

A

Hip, knee, shoulder, wrist, ankle

46
Q

Osteonecrosis occurs from?

A

MC fractures

Corticosteroids, vasculitis, embolism (sickle cell)

47
Q

What is osteomyelitis

A

Bone marrow inflammation- occurs from WBC destroy bone. ACUTE IS MC

48
Q

Modes of infection of osteomyelitis

A
  1. Hematogenous (MC)
  2. Adjacent infection from soft tissue/joint
  3. traumatic implantation, aka surgery
49
Q

Symptoms of osteomyelitis

A

Throbbing pain
Acute fever
Malaise

Unable to identify microbe in 1/2 of all cases

50
Q

Most common bacterial cause of osteomyelitis

A

Staphylococcus aureus***

In neonates- E. coli, Group B streptococci

Sickle cell disease

51
Q

Pyogenic Osteomyelitis

A

Involucrum- surrounds infected bone

Sequestrum- entrapped necrotic bone

Draining Sinus- pus (abscess) drains into the surrounding soft tissues

52
Q

Tuberculous Osteomyelitis

A

Potts disease of the spine

Only occurs in 3% of TB cases

53
Q

What is the difference between Congenital kyphosis type 1 and type 2

A

Type 1- failed development

Type 2- failed segmentation