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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
What are some characteristics of Spinal Stenosis
Foramen Magnum - brain stem compression, may be lethal Spinal Canal - radiculopathy (pinched nerve)
26
What is the condition in patients with achondroplasia where their hands are very large and the bones are very far spread out.
Trident Hand
27
What are some treatments available for patients who have achondroplasia?
``` Growth Hormone (somatotropin) - initiated between ages 1-6 ``` Limb-lengthening surgery -controversial, experimental, takes years, may add about 1 foot to height.
28
What is the worst case scenario for dwarfism
Thanatophoric dwarfism
29
What are some characteristics of thanatophoric dwarfism
``` Extremely small thorax and short long bones Rare Fatal -stillbirth -Perinatal respiratory failure ```
30
What are other conditions that can cause dwarfism?
Turner syndrome, Hypothyroidism, malnutrition, osteogenesis imperfecta, hypopituitary dwarfism, etc...
31
What are other names for osteopetrosis?
Marble bone disease | Albers-Schonberg disease
32
In osteopetrosis, what is the activity of osteoclasts?
Lower osteoclast activity
33
In osteopetrosis, there is skeletal sclerosis. What does this mean?
Skeletal hardening
34
With osteopetrosis, what is the condition in which bone marrow is being compressed and dies? What does this lead to?
Condition is deranged hematopoiesis | Leads to fatigue and infections due to lack of RBC/WBC
35
What is foraminal stenosis that can happen in patients with osteopetrosis?
Cranial nerve palsies
36
What is a treatment for osteopetrosis?
Lower calcium intake or a serious procedure of stem cell donations
37
Osteopetrosis with no medulla can develop Erlenmeyer flask deformity, what is another condition that can cause this?
Gaucher disease
38
With osteoporosis, what is the main structure being stressed?
Trabecular bone (cancellous, spongy)
39
What are some examples of bones that are affected in patients with osteoporosis
Vertebral bodies, femoral neck, calcaneus | May thin cortex, when advanced
40
What is the condition when osteoporosis has not fully settled in? Not within that 2.5 SD away from normal
Osteopenia
41
What is osteopenia?
Lower bone mass and more porosity | Asymptomatic, until skeletal fragility
42
How does one diagnose osteoporisis/osteopenia
T-score that is 2.5 SD away from normal is osteoporisis, anything less than that is osteopenia
43
What are the two types of osteoporisis?
Primary and Secondary
44
What are the characteristics of primary osteoporosis
Senile (age-related) | Postmenopausal
45
What are characteristics of Secondary osteoporisis
Neoplasia, body-wide immobilization Hyperparathyroidism, nutrient deficiencies Corticosteroids, alcohol, smoking
46
What are some more characteristics of senile in primary osteoporisis
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
What are some characteristics of postmenopausal conditions in primary osteoporosis
Lower estrogens = increased osteoclast activity | 50% of PM females (3% of age-matched males)
48
What are some treatments for osteoporosis in menopausal women and what are some side effects from this?
Estrogen therapy | Some side effects are increased DVT, endometrial CA and breast CA
49
What are some risk factors for osteoporosis
``` Older age Females Sedentary lifestyle Family history Disordered eating, malnutrition, malabsorption ```
50
Osteoporosis can lead to two different kinds of consequences, what are these two?
Vertebral body compression fracture | Femoral neck fracture
51
With vertebral body compression fracture, what are two conditions and their names for them
Dowager’s Hump kyphoscoliosis (Reduced height, risk for pneumonia)
52
What are some conditions with femoral neck fractures?
Disabling and risk for pulmonary emboli
53
Are x-rays diagnostic or non-diagnostic for patients with osteoporosis
Non-diagnostic (Not sensitive enough) Loss of ~30-40% of bone mass
54
What are three preventions for osteoporosis
1. ) Physical activity - regular exercise - best prior to age 30 2. ) Dietary calcium & vitamin D 3. ) Antiresorptive pharmacological agents - bisphosphonates
55
When people talk about Paget Disease, what is the general term
Paget Disease is of Bone
56
What is another name for Paget disease of bone?
Osteitis deformans
57
What are the three stages of Paget disease
1. Regional osteoclastic activity 2. Osteoblastic activity = excessive bone - disorganized, greater mass, poor quality 3. Sclerotic phase
58
What is the appearance in x-rays for patients with Paget disease
Weak bone, “shaggy” appearance
59
What is a Dx for Paget disease
Increased alkaline phosphatase in serum
60
What kind of bone pattern can you see in patients with Paget disease
A mosaic appearance (jigsaw puzzle) | Instead of a round circular pattern
61
Is there a known cause for Paget disease
No, idiopathic | Maybe genetic, geographic, infective (paramyxoviridae)
62
Is Paget disease common? If so what are some characteristics? Numbers?
Yes very common ~2% in more than 50 year olds ~10% in more than 80 year olds
63
Do patients normally have symptoms for Paget disease?
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
What percentage of Paget disease can be a sarcoma?
1% and very poor prognosis
65
On X-ray for patients with Paget Disease, what is the name given to the object being seen for bones?
Ivory Vertebra Sign Paget disease Metastatic cancer (prostate) Lymphoma
66
What is the percentage of Paget disease being in multiple sites and where are some areas?
Most 85% have multiple sites MC is the axial skeleton/femur Others are pelvis, sacrum, skull
67
What is the MC Dx at age 70 for patients with Paget disease
Males are 2X more likely | Europe, New Zealand, Australia
68
What is a treatment for patients with Paget’s diease
Bisphosphonates | -intended to slow lytic phase
69
With people who have vitamin D deficiency, what is the general malformation?
Failed osseoid formation | -undermineralized bone
70
What are some things that cause failed osteoid formation
Deficiency - dietary or UV Malabsorption Chronic renal disorders
71
What is the condition called in kids with vitamin D deficiency and some effects from it
Rickets = children, severe | -poor growth plate mineralization
72
What is the condition called in adults with vitamin D deficiency and some effects of it
Osteomalacia = adults, mild Remodeled bone is undermineralized Mimics osteoporosis
73
What does the parathyroid gland do?
Secretes parathyroid hormone & maintain serum Ca ++
74
What are two conditions of hyperparathyroidism called?
Primary and secondary hyperparathyroidism
75
How does parathyroid hormone and calcium correlate to one another?
Directly proportional to each other | PTH goes up, Ca goes up
76
What are some characteristics for primary hyperparathyroidism
Autonomous PTH production -MC from an adenoma Increased osteoclast activity Increased renal tubule resorption of Ca++
77
What are some characteristics of secondary hyperparathyroidism
Renal failure > hypocalcemia > increased PTH
78
Is hyperparathyroidism symptomatic or asymptomatic
Most are asymptomatic
79
Who is mainly affected by hyperparathyroidism
MC affects post-menopausal females
80
What happens to patients with hyperparathyroidism
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
What are some diseases or problems that can happen to patients with hyperparathyroidism
``` Kidney stones (MC), peptic ulcers, depression, demineralization/pathologic fractures -variety of unique skeletal changes ```
82
On X-ray a salt and pepper skull would indicate what? What would help with diagnosis?
MC nonmalignant cause of hypercalcemia Dx = hypercalcemia + parathyroid immunoassay
83
What is a condition seen on x-ray where the middle of the vertebrae are thinner and show up less?
Rugged-jersey Spine related to hyperparathyroidism
84
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?
First one is spiculated Cortex | Second one is subperiosteal Resorption
85
What are some widespread features of hyperparathyroidism
Bone pain, fractures, deformation, kidney stones, nausea, anorexia, fatigue, lower cognition
86
What is the treatment for parathyroidism
Depends on cause (primary or secondary) Drinking water and physical activity Avoid diuretics Reversible with normalization of PTH levels
87
What is the mnemonic for hyperparathyroidism
Painful bones, renal stones, abdominal groans, & psychic moans
88
What is a classic feature of advanced hyperparathyroidism that takes on a cystic appearance on x-ray?
Osteitis Fibrosa Cystica
89
What are some classifications of fractures?
``` Complete vs incomplete (children) Closed Compound Comminuted Displaced ```
90
What is a closed fracture?
Intact overlying tissue
91
What is a compound fracture
Skin is ruptured | -infection risk
92
What is a comminuted fracture?
Fragmented/splintered
93
What is a displaced fracture
Distal segment is malaligned

Systems Path 1 (1 decks)

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