Exam 1 Flashcards

1
Q

What is Dysostosis?

A

Developmental anomaly of bone or cartilage

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2
Q

How does dysostosis occur?

A

Abnormal mesenchymal migration

Abnormal ossification of fetal cartilage

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3
Q

What is aplasia?

A

Absence of normal tissue or growth

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4
Q

What are two things associated with dysostosis?

A
Supernumerary digit
Cleidocranial dysplasia (no presence of clavicles)
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5
Q

When it comes to dysostosis, what are some examples of supernumerary digits?

A

Things like Syndactyly or polydactyly

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6
Q

This condition can happen in patients with dysostosis where there is congenital fusion of at least 2 or more cervical vertebrae

A

Klippel-Feil Syndrome

Occurs 1 in 2,000

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7
Q

This condition in people with dysostosis is when the scapula attaches directly to the lower cervical or upper thoracic vertebrae

A

Sprengel’s Deformity

Can also result in renal, cardiac, and hearting malformations

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8
Q

What is dysplasia?

A

Mutations that interfere with growth of entire skeleton

(In this context, NOT pre-cancerous)

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9
Q

What are some examples of dysplasia?

A

Osteodysplasia - type 1 spondylolisthesis (“dysplastic type”)

Achondroplasia (M.C.)

Osteopetrosis

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10
Q

What is osteopetrosis

A

Skeleton is overly dense, but still shatters easily

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11
Q

What is another name for osteogenesis imperfecta

A

Brittle bone disease

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12
Q

Osteogenesis imperfecta is mainly caused by a…..

A

Mutated type 1 collagen defect

Alpha 1 or alpha 2 chains

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13
Q

How is osteogenesis imperfecta acquired? (Dominant/recessive)

A

Autosomal dominant

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14
Q

What body parts are affected in osteogenesis imperfecta?

A

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

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15
Q

What are the two types of osteogenesis imperfecta and their outcomes?

A

Type 1 - normal lifespan

Type 2 - lethal in utero

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16
Q

What is the consensus with chiropractic and osteogenesis imperfecta?

A

Adjusting is contraindicated

Don’t do it

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17
Q

How do people with osteogenesis imperfecta obtain Zebra Stripe Sign?

A

The children are being treated with bisphosphonates (cyclical)
Trying to lay down more bone

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18
Q

When adults are at or below the height of 4’10” (147 cm), what is the name of that condition

A

Dwarfism

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19
Q

What is the MC form of dwarfism

A

Achondroplasia

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20
Q

What are the effects of Achondroplasia

A

Lower cartilage synthesis
Short/bowed long bones
Frontal bossing & midface hypoplasia

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21
Q

What is the specific gene that causes Achondroplasia

A

Mutated FGFR3 gene
75% spontaneous
25% are autosomal dominant
1 in 10,0000

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22
Q

What is claudication?

A

Cramping

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23
Q

What are some conditions that can happen to the spine in patients with Achondroplasia

A

Bullet Vertebrae

Spinal Stenosis

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24
Q

What are some characteristics of bullet vertebrae

A

Hyperlordosis & kyphosis (at birth)

Scoliosis

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25
Q

What are some characteristics of Spinal Stenosis

A

Foramen Magnum - brain stem compression, may be lethal

Spinal Canal - radiculopathy (pinched nerve)

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26
Q

What is the condition in patients with achondroplasia where their hands are very large and the bones are very far spread out.

A

Trident Hand

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27
Q

What are some treatments available for patients who have achondroplasia?

A
Growth Hormone (somatotropin)
 - initiated between ages 1-6

Limb-lengthening surgery
-controversial, experimental, takes years, may add about 1 foot to height.

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28
Q

What is the worst case scenario for dwarfism

A

Thanatophoric dwarfism

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29
Q

What are some characteristics of thanatophoric dwarfism

A
Extremely small thorax and short long bones
Rare
Fatal
 -stillbirth
 -Perinatal respiratory failure
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30
Q

What are other conditions that can cause dwarfism?

A

Turner syndrome, Hypothyroidism, malnutrition, osteogenesis imperfecta, hypopituitary dwarfism, etc…

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31
Q

What are other names for osteopetrosis?

A

Marble bone disease

Albers-Schonberg disease

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32
Q

In osteopetrosis, what is the activity of osteoclasts?

A

Lower osteoclast activity

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33
Q

In osteopetrosis, there is skeletal sclerosis. What does this mean?

A

Skeletal hardening

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34
Q

With osteopetrosis, what is the condition in which bone marrow is being compressed and dies? What does this lead to?

A

Condition is deranged hematopoiesis

Leads to fatigue and infections due to lack of RBC/WBC

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35
Q

What is foraminal stenosis that can happen in patients with osteopetrosis?

A

Cranial nerve palsies

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36
Q

What is a treatment for osteopetrosis?

A

Lower calcium intake or a serious procedure of stem cell donations

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37
Q

Osteopetrosis with no medulla can develop Erlenmeyer flask deformity, what is another condition that can cause this?

A

Gaucher disease

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38
Q

With osteoporosis, what is the main structure being stressed?

A

Trabecular bone (cancellous, spongy)

39
Q

What are some examples of bones that are affected in patients with osteoporosis

A

Vertebral bodies, femoral neck, calcaneus

May thin cortex, when advanced

40
Q

What is the condition when osteoporosis has not fully settled in? Not within that 2.5 SD away from normal

A

Osteopenia

41
Q

What is osteopenia?

A

Lower bone mass and more porosity

Asymptomatic, until skeletal fragility

42
Q

How does one diagnose osteoporisis/osteopenia

A

T-score that is 2.5 SD away from normal is osteoporisis, anything less than that is osteopenia

43
Q

What are the two types of osteoporisis?

A

Primary and Secondary

44
Q

What are the characteristics of primary osteoporosis

A

Senile (age-related)

Postmenopausal

45
Q

What are characteristics of Secondary osteoporisis

A

Neoplasia, body-wide immobilization
Hyperparathyroidism, nutrient deficiencies
Corticosteroids, alcohol, smoking

46
Q

What are some more characteristics of senile in primary osteoporisis

A

Age-related, normal phenomenon
Lower growth factors and lower osteoblast activity
Begins as soon as mid-20s
-0.5% bone mass is lost each year

47
Q

What are some characteristics of postmenopausal conditions in primary osteoporosis

A

Lower estrogens = increased osteoclast activity

50% of PM females (3% of age-matched males)

48
Q

What are some treatments for osteoporosis in menopausal women and what are some side effects from this?

A

Estrogen therapy

Some side effects are increased DVT, endometrial CA and breast CA

49
Q

What are some risk factors for osteoporosis

A
Older age
Females
Sedentary lifestyle
Family history
Disordered eating, malnutrition, malabsorption
50
Q

Osteoporosis can lead to two different kinds of consequences, what are these two?

A

Vertebral body compression fracture

Femoral neck fracture

51
Q

With vertebral body compression fracture, what are two conditions and their names for them

A

Dowager’s Hump
kyphoscoliosis
(Reduced height, risk for pneumonia)

52
Q

What are some conditions with femoral neck fractures?

A

Disabling and risk for pulmonary emboli

53
Q

Are x-rays diagnostic or non-diagnostic for patients with osteoporosis

A

Non-diagnostic
(Not sensitive enough)
Loss of ~30-40% of bone mass

54
Q

What are three preventions for osteoporosis

A
  1. ) Physical activity - regular exercise
    - best prior to age 30
  2. ) Dietary calcium & vitamin D
  3. ) Antiresorptive pharmacological agents
    - bisphosphonates
55
Q

When people talk about Paget Disease, what is the general term

A

Paget Disease is of Bone

56
Q

What is another name for Paget disease of bone?

A

Osteitis deformans

57
Q

What are the three stages of Paget disease

A
  1. Regional osteoclastic activity
  2. Osteoblastic activity = excessive bone
    • disorganized, greater mass, poor quality
  3. Sclerotic phase
58
Q

What is the appearance in x-rays for patients with Paget disease

A

Weak bone, “shaggy” appearance

59
Q

What is a Dx for Paget disease

A

Increased alkaline phosphatase in serum

60
Q

What kind of bone pattern can you see in patients with Paget disease

A

A mosaic appearance (jigsaw puzzle)

Instead of a round circular pattern

61
Q

Is there a known cause for Paget disease

A

No, idiopathic

Maybe genetic, geographic, infective (paramyxoviridae)

62
Q

Is Paget disease common? If so what are some characteristics? Numbers?

A

Yes very common
~2% in more than 50 year olds
~10% in more than 80 year olds

63
Q

Do patients normally have symptoms for Paget disease?

A

No, generally asymptomatic (80%)
- incidental findings
If it is symptomatic, MC neck and back pain
-bony deformation (bowing) or fracture
-nerve compression: headache, visual/auditory

64
Q

What percentage of Paget disease can be a sarcoma?

A

1% and very poor prognosis

65
Q

On X-ray for patients with Paget Disease, what is the name given to the object being seen for bones?

A

Ivory Vertebra Sign
Paget disease
Metastatic cancer (prostate)
Lymphoma

66
Q

What is the percentage of Paget disease being in multiple sites and where are some areas?

A

Most 85% have multiple sites
MC is the axial skeleton/femur
Others are pelvis, sacrum, skull

67
Q

What is the MC Dx at age 70 for patients with Paget disease

A

Males are 2X more likely

Europe, New Zealand, Australia

68
Q

What is a treatment for patients with Paget’s diease

A

Bisphosphonates

-intended to slow lytic phase

69
Q

With people who have vitamin D deficiency, what is the general malformation?

A

Failed osseoid formation

-undermineralized bone

70
Q

What are some things that cause failed osteoid formation

A

Deficiency - dietary or UV
Malabsorption
Chronic renal disorders

71
Q

What is the condition called in kids with vitamin D deficiency and some effects from it

A

Rickets = children, severe

-poor growth plate mineralization

72
Q

What is the condition called in adults with vitamin D deficiency and some effects of it

A

Osteomalacia = adults, mild
Remodeled bone is undermineralized
Mimics osteoporosis

73
Q

What does the parathyroid gland do?

A

Secretes parathyroid hormone & maintain serum Ca ++

74
Q

What are two conditions of hyperparathyroidism called?

A

Primary and secondary hyperparathyroidism

75
Q

How does parathyroid hormone and calcium correlate to one another?

A

Directly proportional to each other

PTH goes up, Ca goes up

76
Q

What are some characteristics for primary hyperparathyroidism

A

Autonomous PTH production
-MC from an adenoma
Increased osteoclast activity
Increased renal tubule resorption of Ca++

77
Q

What are some characteristics of secondary hyperparathyroidism

A

Renal failure > hypocalcemia > increased PTH

78
Q

Is hyperparathyroidism symptomatic or asymptomatic

A

Most are asymptomatic

79
Q

Who is mainly affected by hyperparathyroidism

A

MC affects post-menopausal females

80
Q

What happens to patients with hyperparathyroidism

A

Resorption of cortical & trabecular bone
-replaced by loose connective tissue
-possible “brown tumor”
Brown tumor - fracture -> hemorrhage -> macrophages -> fibrosis
-not a true neoplasm/tumor

81
Q

What are some diseases or problems that can happen to patients with hyperparathyroidism

A
Kidney stones (MC), peptic ulcers, depression, demineralization/pathologic fractures
   -variety of unique skeletal changes
82
Q

On X-ray a salt and pepper skull would indicate what? What would help with diagnosis?

A

MC nonmalignant cause of hypercalcemia

Dx = hypercalcemia + parathyroid immunoassay

83
Q

What is a condition seen on x-ray where the middle of the vertebrae are thinner and show up less?

A

Rugged-jersey Spine related to hyperparathyroidism

84
Q

What is shown on x-ray with resorption of one side of fingers and another with one side of radial,middle phalanges due to hyperparathyroidism?

A

First one is spiculated Cortex

Second one is subperiosteal Resorption

85
Q

What are some widespread features of hyperparathyroidism

A

Bone pain, fractures, deformation, kidney stones, nausea, anorexia, fatigue, lower cognition

86
Q

What is the treatment for parathyroidism

A

Depends on cause (primary or secondary)
Drinking water and physical activity
Avoid diuretics

Reversible with normalization of PTH levels

87
Q

What is the mnemonic for hyperparathyroidism

A

Painful bones, renal stones, abdominal groans, & psychic moans

88
Q

What is a classic feature of advanced hyperparathyroidism that takes on a cystic appearance on x-ray?

A

Osteitis Fibrosa Cystica

89
Q

What are some classifications of fractures?

A
Complete vs incomplete (children)
Closed
Compound
Comminuted
Displaced
90
Q

What is a closed fracture?

A

Intact overlying tissue

91
Q

What is a compound fracture

A

Skin is ruptured

-infection risk

92
Q

What is a comminuted fracture?

A

Fragmented/splintered

93
Q

What is a displaced fracture

A

Distal segment is malaligned