Exam 1 Flashcards

(53 cards)

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
What is treatment of paget disease
Biphosphates Which are intended to slow lyric phase
26
What is a result of vitamin D deficiency
Undermineralized bony matrix
27
What are the two most common forms of vitamin D deficiency
Rickets- found in children, severe form Osteomalacia- found in adults, normally mild form, can mimic osteoporosis Get 90% of vitamin D from sun
28
What is primary hyperparathryoidism
MC from an adenoma Increase in osteoblast activity Renal tube of resorption of Ca
29
What is secondary hyperparathryoidism
Results in renal failure, hypocalcemia, and increase in PTH
30
What is the most common nonmalignant cause of hypercalcemia
Secondary hyperparathryoidism
31
Hyperparathryoidism mc affects ______________
Women, 50% are asymptomatic
32
What can cause a "brown tumor"
Hyperparathryoidism , bone is replaced by loose connective tissue
33
Symptoms of hyperparathryoidism
Kidney stone MC, peptic ulcers, depression, long bone bowing,brain fog, short term memory loss
34
What is the treatment of hyperparathryoidism
Drinking water and physic activity Avoidance of diuretics Is reversible with normalization of PTH levels
35
Osteitis fibrosis cystica is a symptom of advanced stages of ___________________
Hyperparathryoidism , skeleton takes on a cystic appearance
36
What is a closed fracture
Intact overlying tissue
37
Compound fracture
Skin is ruptured, INFECTION risk
38
Comminuted fracture
Fragmented/splintered break
39
Displaced fracture
Distal segment is malaligned
40
What is a pathological fracture
Is at the site of any disease Ex. Osteogenesis imperfecta , osteoporosis, tumor
41
What's a stress fracture
Microfractures, develop slowly over time from repetitive use
42
What is woven bone?
Fracture healing using chondroblasts 2-3 weeks after break
43
What is endochondral ossification
Have a bony callus 6-8 weeks after break, continual remodeling
44
What delays healing of fractures
``` Nonunion- due to large callus Communition- resort fragments Inadequate immobilization- disrupts callus Infection-MC with compound Nutrition deficiencies Advanced age ```
45
Osteonecrosis occurs MC where?
Hip, knee, shoulder, wrist, ankle
46
Osteonecrosis occurs from?
MC fractures Corticosteroids, vasculitis, embolism (sickle cell)
47
What is osteomyelitis
Bone marrow inflammation- occurs from WBC destroy bone. ACUTE IS MC
48
Modes of infection of osteomyelitis
1. Hematogenous (MC) 2. Adjacent infection from soft tissue/joint 3. traumatic implantation, aka surgery
49
Symptoms of osteomyelitis
Throbbing pain Acute fever Malaise Unable to identify microbe in 1/2 of all cases
50
Most common bacterial cause of osteomyelitis
Staphylococcus aureus*** In neonates- E. coli, Group B streptococci Sickle cell disease
51
Pyogenic Osteomyelitis
Involucrum- surrounds infected bone Sequestrum- entrapped necrotic bone Draining Sinus- pus (abscess) drains into the surrounding soft tissues
52
Tuberculous Osteomyelitis
Potts disease of the spine Only occurs in 3% of TB cases
53
What is the difference between Congenital kyphosis type 1 and type 2
Type 1- failed development Type 2- failed segmentation